CGT:
Tests list
Select your test and find the gene, mutations and diseases related to them.
- CGT 600/250
- CGT Basic
- CGT Essential
CGT 600/250
- CGT 600
- CGT 250
Search among the genes analyzed by CGT 600/250
| Gene | Disease | Transcript | Mutations |
|---|---|---|---|
| ABCA4 | Cone-rod dystrophy type 3 | NM_000350.2 | NM_000350.2:c.3540_3555delGTCTAAGGGTTTCTCC, NM_000350.2:c.2616_2617delCT, NM_000350.2:c.4793C>A, NM_000350.2:c.6179T>G, NM_000350.2:c.1222C>T, NM_000350.2:c.763C>T |
| ABCA4 | Retinitis pigmentosa type 19 | NM_000350.2 | NM_000350.2:c.1848delA |
| ABCA4 | Stargardt disease type 1 | NM_000350.2 | NM_000350.2:c.1018T>G, NM_000350.2:c.4457C>T, NM_000350.2:c.1225delA, NM_000350.2:c.1622T>C, NM_000350.2:c.1715G>A, NM_000350.2:c.1755delA, NM_000350.2:c.1771delT, NM_000350.2:c.1804C>T, NM_000350.2:c.6449G>A, NM_000350.2:c.1938-1G>A, NM_000350.2:c.1964T>G, NM_000350.2:c.2160+1G>T, NM_000350.2:c.2588G>C, NM_000350.2:c.4469G>A, NM_000350.2:c.2690C>T, NM_000350.2:c.2791G>A, NM_000350.2:c.286A>G, NM_000350.2:c.2971G>C, NM_000350.2:c.3083C>T, NM_000350.2:c.3106G>A, NM_000350.2:c.3210_3211dupGT, NM_000350.2:c.3364G>A, NM_000350.2:c.6320G>A, NM_000350.2:c.3970delG, NM_000350.2:c.4139C>T, NM_000350.2:c.4429C>T, NM_000350.2:c.2300T>A, NM_000350.2:c.3322C>T, NM_000350.2:c.52C>T, NM_000350.2:c.5512delC, NM_000350.2:c.5819T>C, NM_000350.2:c.5881G>A, NM_000350.2:c.5882G>A, NM_000350.2:c.5912T>G, NM_000350.2:c.634C>T, NM_000350.2:c.5714+5G>A, NM_000350.2:c.6394G>T, NM_000350.2:c.67-2A>G, NM_000350.2:c.5461-10T>C, NM_000350.2:c.6089G>A, NM_000350.2:c.6118C>T, NM_000350.2:c.6148G>C, NM_000350.2:c.661G>A, NM_000350.2:c.5338C>G |
| ABCB7 | Sideroblastic anemia and ataxia, X-linked | NM_004299.4 | NM_004299.4:c.1203T>G, NM_004299.4:c.1234G>C, NM_004299.4:c.1300G>A |
| ACAD9 | Acyl-CoA dehydrogenase type 9 deficiency | NM_014049.4 | NM_014049.4:c.1240C>T, NM_014049.4:c.1249C>T, NM_014049.4:c.130T>A, NM_014049.4:c.1594C>T, NM_014049.4:c.23delT, NM_014049.4:c.358delT, NM_014049.4:c.797G>A, NM_014049.4:c.976G>C, NM_014049.4:c.453+1G>A |
| ACADM | Acyl-CoA dehydrogenase deficiency, medium-chain | NM_000016.5 | NM_000016.5:c.1102_1105delTTAG, NM_000016.5:c.1232_1233delAA, NM_000016.5:c.287-2A>G, NM_000016.5:c.362C>T, NM_000016.5:c.447G>A, NM_000016.5:c.447G>T, NM_000016.5:c.449_452delCTGA, NM_000016.5:c.616C>T, NM_000016.5:c.617G>A, NM_000016.5:c.683C>A, NM_000016.5:c.797A>G, NM_000016.5:c.799G>A, NM_000016.5:c.815_827delTTGCAATGGGAGC, NM_000016.5:c.890A>G, NM_000016.5:c.984delG, NM_000016.5:c.985A>G, NM_000016.5:c.127G>A, NM_000016.5:c.734C>T, NM_000016.5:c.250C>T |
| ACADS | Acyl-CoA dehydrogenase deficiency, short-chain | NM_000017.2 | NM_000017.2:c.1095G>T, NM_000017.2:c.1108A>G, NM_000017.2:c.1147C>T, NM_000017.2:c.136C>T, NM_000017.2:c.319C>T, NM_000017.2:c.417G>C, NM_000017.2:c.529T>C, NM_000017.2:c.561_568delCAATGCCT, NM_000017.2:c.826G>A, NM_000017.2:c.314T>A |
| ACADSB | 2-Methylbutyryl-CoA dehydrogenase deficiency | NM_001609.3 | NM_001609.3:c.1159G>A, NM_001609.3:c.443C>T, NM_001609.3:c.763C>T, NM_001609.3:c.621G>A, NM_001609.3:c.303+1G>A |
| ACADVL | Very long chain acyl-CoA dehydrogenase deficiency | NM_000018.3 | NM_000018.3:c.1096C>T, NM_000018.3:c.1097G>A, NM_000018.3:c.1106T>C, NM_000018.3:c.1141_1143delGAG, NM_000018.3:c.1182+1G>A, NM_000018.3:c.1357C>T, NM_000018.3:c.1360G>A, NM_000018.3:c.1375dupC, NM_000018.3:c.1389dupG, NM_000018.3:c.1406G>A, NM_000018.3:c.1468G>C, NM_000018.3:c.1532+1G>A, NM_000018.3:c.1837C>T, NM_000018.3:c.1843C>T, NM_000018.3:c.1882delC, NM_000018.3:c.278-1G>A, NM_000018.3:c.298_299delCA, NM_000018.3:c.343delG, NM_000018.3:c.400C>T, NM_000018.3:c.477+1G>C, NM_000018.3:c.520G>A, NM_000018.3:c.685C>T, NM_000018.3:c.739A>C, NM_000018.3:c.753-2A>C, NM_000018.3:c.896_898delAGA, NM_000018.3:c.917T>C, NM_000018.3:c.1844G>A, NM_000018.3:c.848T>C |
| ACAT1 | Beta-ketothiolase deficiency | NM_000019.3 | NM_000019.3:c.1035_1037delAGA, NM_000019.3:c.1083dupA, NM_000019.3:c.1136G>T, NM_000019.3:c.1138G>A, NM_000019.3:c.2T>A, NM_000019.3:c.410_417delCTCAAAGT, NM_000019.3:c.547G>A, NM_000019.3:c.622C>T, NM_000019.3:c.905delA |
| ACE | Renal tubular dysgenesis | NM_000789.3 | NM_000789.3:c.1319_1322delTGGA, NM_000789.3:c.1510delC, NM_000789.3:c.3381-4C>T, NM_000789.3:c.798C>G, NM_000789.3:c.1486C>T, NM_000789.3:c.2371C>T, NM_000789.3:c.1587-2A>G |
| ACOX1 | Peroxisomal acyl-CoA oxidase deficiency | NM_004035.6 | NM_004035.6:c.832A>G, NM_004035.6:c.532G>T, NM_004035.6:c.591delG |
| ACTN4 | Glomerulosclerosis, focal segmental, type 1 | NM_004924.4 | NM_004924.4:c.763A>G, NM_004924.4:c.2619_2620insC, NM_004924.4:c.776C>T, NM_004924.4:c.784T>C |
| ADA | Adenosine deaminase deficiency | NM_000022.2 | NM_000022.2:c.226C>T, NM_000022.2:c.632G>A, NM_000022.2:c.890C>A, NM_000022.2:c.247G>A, NM_000022.2:c.320T>C, NM_000022.2:c.872C>T, NM_000022.2:c.956_960delAAGAG, NM_000022.2:c.986C>T |
| ADAMTS2 | Ehlers-Danlos syndrome type 7C | NM_014244.4 | NM_014244.4:c.2384G>A |
| ADAMTSL2 | Geleophysic dysplasia type 1 | NM_014694.3 | NM_014694.3:c.338G>A, NM_014694.3:c.440C>T, NM_014694.3:c.661C>T, NM_014694.3:c.340G>A |
| ADCK3 | Primary coenzyme Q10 deficiency type 4 | NM_020247.4 | NM_020247.4:c.911C>T, NM_020247.4:c.815G>T, NM_020247.4:c.993C>T, NM_020247.4:c.1541A>G, NM_020247.4:c.1645G>A, NM_020247.4:c.1651G>A, NM_020247.4:c.1750_1752delACC, NM_020247.4:c.1813_1814insG, NM_020247.4:c.589-3C>G, NM_020247.4:c.637C>T, NM_020247.4:c.815G>A |
| AGA | Aspartylglucosaminuria | NM_000027.3 | NM_000027.3:c.488G>C, NM_000027.3:c.755G>A, NM_000027.3:c.214T>C, NM_000027.3:c.302C>T, NM_000027.3:c.800dupT, NM_000027.3:c.904G>A |
| AGL | Glycogen storage disease type 3 | NM_000642.2 | NM_000642.2:c.1783C>T, NM_000642.2:c.18_19delGA, NM_000642.2:c.112A>G, NM_000642.2:c.1222C>T, NM_000642.2:c.1481G>A, NM_000642.2:c.1485delT, NM_000642.2:c.16C>T, NM_000642.2:c.4260-1G>T, NM_000642.2:c.3214_3215delGA, NM_000642.2:c.1999delC, NM_000642.2:c.2039G>A, NM_000642.2:c.2590C>T, NM_000642.2:c.4456delT, NM_000642.2:c.3216_3217delGA, NM_000642.2:c.3980G>A, NM_000642.2:c.4342G>C, NM_000642.2:c.4529dupA, NM_000642.2:c.294-2A>T, NM_000642.2:c.4260-12A>G |
| AGPS | Rhizomelic chondrodysplasia punctata type 3 | NM_003659.3 | NM_003659.3:c.1256G>A, NM_003659.3:c.926C>T, NM_003659.3:c.1406T>C, NM_003659.3:c.1703C>T |
| AGT | Renal tubular dysgenesis | NM_000029.3 | NM_000029.3:c.1124G>A, NM_000029.3:c.604C>T, NM_000029.3:c.1290_1291insT, NM_000029.3:c.1290delT |
| AGTR1 | Renal tubular dysgenesis | NM_031850.3 | NM_031850.3:c.481delC, NM_031850.3:c.259dupG, NM_031850.3:c.215dupT, NM_031850.3:c.481C>T |
| AGXT | Primary hyperoxaluria type 1 | NM_000030.2 | NM_000030.2:c.166-2A>G, NM_000030.2:c.121G>A, NM_000030.2:c.32C>A, NM_000030.2:c.245G>A, NM_000030.2:c.25_26insC, NM_000030.2:c.322T>C, NM_000030.2:c.508G>A, NM_000030.2:c.560C>T, NM_000030.2:c.590G>A, NM_000030.2:c.613T>C, NM_000030.2:c.697C>T, NM_000030.2:c.698G>A, NM_000030.2:c.731T>C, NM_000030.2:c.738G>A, NM_000030.2:c.836T>C, NM_000030.2:c.860G>A, NM_000030.2:c.33_34insC, NM_000030.2:c.454T>A, NM_000030.2:c.466G>A, NM_000030.2:c.248A>G |
| AHI1 | Joubert syndrome type 3 | NM_017651.4 | NM_017651.4:c.1303C>T, NM_017651.4:c.1484G>A, NM_017651.4:c.2295_2296insA, NM_017651.4:c.2295dupA, NM_017651.4:c.3257A>G, NM_017651.4:c.2168G>A, NM_017651.4:c.985C>T, NM_017651.4:c.989A>G, NM_017651.4:c.3263_3264delGG, NM_017651.4:c.1051C>T, NM_017651.4:c.1052G>T |
| AIPL1 | Cone-rod dystrophy | NM_014336.4 | NM_014336.4:c.1053_1064delTGCAGAGCCACC |
| AIPL1 | Leber congenital amaurosis type 4 | NM_014336.4 | NM_014336.4:c.905G>T, NM_014336.4:c.834G>A, NM_014336.4:c.589G>C, NM_014336.4:c.715T>C |
| ALAS2 | Erythropoietic protoporphyria | NM_000032.4 | NM_000032.4:c.1699_1700delAT, NM_000032.4:c.1706_1709delAGTG |
| ALAS2 | Sideroblastic anemia, X-linked | NM_000032.4 | NM_000032.4:c.1354C>T |
| ALDH4A1 | Hyperprolinemia type 2 | NM_003748.3 | NM_003748.3:c.1055C>T |
| ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency | NM_001080.3 | NM_001080.3:c.1234C>T, NM_001080.3:c.1226G>A, NM_001080.3:c.901A>G, NM_001080.3:c.1540C>T, NM_001080.3:c.1579C>T, NM_001080.3:c.612G>A, NM_001080.3:c.803G>A, NM_001080.3:c.862A>G |
| ALDOA | Glycogen storage disease type 12 | NM_000034.3 | NM_000034.3:c.619G>A, NM_000034.3:c.386A>G |
| ALDOB | Hereditary fructose intolerance | NM_000035.3 | NM_000035.3:c.1005C>G, NM_000035.3:c.178C>T, NM_000035.3:c.1027T>C, NM_000035.3:c.10C>T, NM_000035.3:c.136A>T, NM_000035.3:c.448G>C, NM_000035.3:c.2T>C, NM_000035.3:c.360_363delCAAA, NM_000035.3:c.442T>C, NM_000035.3:c.1013C>T, NM_000035.3:c.113-1_115delGGTA, NM_000035.3:c.1067C>A, NM_000035.3:c.612T>A, NM_000035.3:c.720C>A, NM_000035.3:c.524C>A |
| ALG1 | Congenital disorders of glycosylation type 1k | NM_019109.4 | NM_019109.4:c.1187+1G>A, NM_019109.4:c.1079C>T, NM_019109.4:c.1129A>G, NM_019109.4:c.901+1G>A, NM_019109.4:c.434G>A, NM_019109.4:c.450C>G, NM_019109.4:c.773C>T |
| ALG6 | Congenital disorders of glycosylation type Ic | NM_013339.3 | NM_013339.3:c.897_899delAAT, NM_013339.3:c.998C>T, NM_013339.3:c.495-3C>G, NM_013339.3:c.53G>A, NM_013339.3:c.316C>T, NM_013339.3:c.482A>G, NM_013339.3:c.1432T>C |
| ALMS1 | Alström syndrome | NM_015120.4 | NM_015120.4:c.11443C>T, NM_015120.4:c.10775delC, NM_015120.4:c.11316_11319delAGAG, NM_015120.4:c.2323C>T, NM_015120.4:c.11449C>T, NM_015120.4:c.11452_11453insA, NM_015120.4:c.1574_1576delCTCinsT, NM_015120.4:c.8383C>T, NM_015120.4:c.9612_9616delAACAG, NM_015120.4:c.10579_10580delAT, NM_015120.4:c.11610_11611delCT, NM_015120.4:c.12439C>T, NM_015120.4:c.12445C>T, NM_015120.4:c.891_907delTCAGCACCCGCTTATAG, NM_015120.4:c.9911-1G>A, NM_015120.4:c.11618_11619delCT, NM_015120.4:c.4245delC, NM_015120.4:c.5584C>T, NM_015120.4:c.8164C>T |
| ALPL | Hypophosphatasia | NM_000478.4 | NM_000478.4:c.1001G>A, NM_000478.4:c.1366G>A, NM_000478.4:c.211C>T, NM_000478.4:c.212G>C, NM_000478.4:c.323C>T, NM_000478.4:c.346G>A, NM_000478.4:c.407G>A, NM_000478.4:c.526G>A, NM_000478.4:c.535G>A, NM_000478.4:c.571G>A, NM_000478.4:c.620A>C, NM_000478.4:c.1133A>T, NM_000478.4:c.1250A>G, NM_000478.4:c.1306T>C, NM_000478.4:c.98C>T, NM_000478.4:c.1574delG, NM_000478.4:c.892G>A, NM_000478.4:c.814C>T, NM_000478.4:c.881A>C |
| AMACR | Alpha-methylacyl-CoA racemase deficiency | NM_014324.5 | NM_014324.5:c.857delT, NM_014324.5:c.320T>C, NM_014324.5:c.43delG, NM_014324.5:c.154T>C |
| AMT | Glycine encephalopathy | NM_000481.3 | NM_000481.3:c.139G>A, NM_000481.3:c.125A>G, NM_000481.3:c.959G>A, NM_000481.3:c.574C>T, NM_000481.3:c.806G>A, NM_000481.3:c.826G>C, NM_000481.3:c.259-1G>C |
| ANO5 | Limb-girdle muscular dystrophy type 2L, autosomal recessive | NM_213599.2 | NM_213599.2:c.155A>G, NM_213599.2:c.1622_1623insA, NM_213599.2:c.1407+5G>A, NM_213599.2:c.1887delA, NM_213599.2:c.1733T>C, NM_213599.2:c.692G>T, NM_213599.2:c.1627_1628insA, NM_213599.2:c.172C>T, NM_213599.2:c.206_207delAT, NM_213599.2:c.1210C>T, NM_213599.2:c.1295C>G, NM_213599.2:c.1914G>A, NM_213599.2:c.184_185insA, NM_213599.2:c.1898+1G>A, NM_213599.2:c.191_192insA |
| APTX | Ataxia with oculomotor apraxia type 1 | NM_175073.2 | NM_175073.2:c.167delT, NM_175073.2:c.788T>G, NM_175073.2:c.320delC, NM_175073.2:c.617C>T, NM_175073.2:c.659C>T, NM_175073.2:c.134-2A>G, NM_175073.2:c.166C>T, NM_175073.2:c.124C>T, NM_175073.2:c.875-1G>A, NM_175073.2:c.837G>A, NM_175073.2:c.596G>A |
| AR | Androgen insensitivity syndrome | NM_000044.3 | NM_000044.3:c.2650A>T, NM_000044.3:c.340C>T, NM_000044.3:c.1937C>A, NM_000044.3:c.2323C>T, NM_000044.3:c.2391G>A, NM_000044.3:c.2567G>A, NM_000044.3:c.1769-11T>A, NM_000044.3:c.1771A>T, NM_000044.3:c.2395C>G |
| ARG1 | Argininemia | NM_000045.3 | NM_000045.3:c.61C>T, NM_000045.3:c.365G>A, NM_000045.3:c.413G>T, NM_000045.3:c.871C>T, NM_000045.3:c.32T>C, NM_000045.3:c.703G>C, NM_000045.3:c.869C>G |
| ARL13B | Joubert syndrome type 8 | NM_182896.2 | NM_182896.2:c.1186C>G, NM_182896.2:c.246G>A, NM_182896.2:c.1252C>T, NM_182896.2:c.598C>T |
| ARL6 | Bardet-Biedl syndrome type 3 | NM_177976.2 | NM_177976.2:c.4G>T, NM_177976.2:c.92C>G, NM_177976.2:c.281T>C, NM_177976.2:c.92C>T, NM_177976.2:c.431C>T, NM_177976.2:c.364C>T |
| ARL6 | Retinitis pigmentosa type 55 | NM_177976.2 | NM_177976.2:c.266C>T |
| ARSA | Metachromatic leukodystrophy | NM_000487.5 | NM_000487.5:c.1241delC, NM_000487.5:c.1283C>T, NM_000487.5:c.346C>T, NM_000487.5:c.34delG, NM_000487.5:c.1210+1G>A, NM_000487.5:c.1232C>T, NM_000487.5:c.582delC, NM_000487.5:c.583delT, NM_000487.5:c.542dupT, NM_000487.5:c.542T>G, NM_000487.5:c.1408_1418delGCAGCTGTGAC, NM_000487.5:c.195delC, NM_000487.5:c.641C>T, NM_000487.5:c.1401_1411delGTTAGACGCAG, NM_000487.5:c.869G>A, NM_000487.5:c.869G>T, NM_000487.5:c.883G>A, NM_000487.5:c.899T>C, NM_000487.5:c.931G>A, NM_000487.5:c.937C>T, NM_000487.5:c.938G>A, NM_000487.5:c.979G>A, NM_000487.5:c.737G>A, NM_000487.5:c.739G>A, NM_000487.5:c.763G>A, NM_000487.5:c.827C>T, NM_000487.5:c.854+1G>A, NM_000487.5:c.1108-2A>G, NM_000487.5:c.1125_1126delCT, NM_000487.5:c.1150G>A, NM_000487.5:c.1174C>T, NM_000487.5:c.1175G>A, NM_000487.5:c.986C>T, NM_000487.5:c.991G>T, NM_000487.5:c.465+1G>A, NM_000487.5:c.257G>A, NM_000487.5:c.293C>T, NM_000487.5:c.302G>A |
| ARSB | Mucopolysaccharidosis type 6 | NM_000046.3 | NM_000046.3:c.410G>T, NM_000046.3:c.427delG, NM_000046.3:c.349T>C, NM_000046.3:c.389C>T, NM_000046.3:c.937C>G, NM_000046.3:c.944G>A, NM_000046.3:c.971G>T, NM_000046.3:c.979C>T, NM_000046.3:c.1562G>A, NM_000046.3:c.629A>G, NM_000046.3:c.1143-1G>C, NM_000046.3:c.571C>T, NM_000046.3:c.589C>T, NM_000046.3:c.1178A>C, NM_000046.3:c.1214G>A, NM_000046.3:c.1143-8T>G, NM_000046.3:c.1161dupC, NM_000046.3:c.707T>C, NM_000046.3:c.753C>G, NM_000046.3:c.1366C>T, NM_000046.3:c.1438_1439insG, NM_000046.3:c.921delA |
| ARSE | Chondrodysplasia punctata type 1, X-linked | NM_000047.2 | NM_000047.2:c.119T>G, NM_000047.2:c.1429delG, NM_000047.2:c.1442C>T, NM_000047.2:c.1732C>T, NM_000047.2:c.1743G>A, NM_000047.2:c.24-1G>A, NM_000047.2:c.410G>C, NM_000047.2:c.410G>T |
| ARX | Epileptic encephalopathy, early infantile, type 1 | NM_139058.2 | NM_139058.2:c.1058C>T |
| ARX | Lissencephaly with abnormal genitalia, X-linked | NM_139058.2 | NM_139058.2:c.980_983delAACA |
| ASL | Argininosuccinic aciduria | NM_000048.3 | NM_000048.3:c.1135C>T, NM_000048.3:c.1060C>T, NM_000048.3:c.1255_1256delCT, NM_000048.3:c.1366C>T, NM_000048.3:c.1045_1057delGTCATCTCTACGC, NM_000048.3:c.578G>A, NM_000048.3:c.539T>G, NM_000048.3:c.544C>T, NM_000048.3:c.557G>A, NM_000048.3:c.1144-2A>G, NM_000048.3:c.602+1G>A, NM_000048.3:c.857A>G, NM_000048.3:c.925G>A, NM_000048.3:c.446+1G>A, NM_000048.3:c.505T>C, NM_000048.3:c.525-2A>T, NM_000048.3:c.532G>A, NM_000048.3:c.337C>T, NM_000048.3:c.346C>T, NM_000048.3:c.35G>A, NM_000048.3:c.1369dupG, NM_000048.3:c.437G>A, NM_000048.3:c.392C>T, NM_000048.3:c.1153C>T |
| ASPA | Canavan disease | NM_000049.2 | NM_000049.2:c.838C>T, NM_000049.2:c.693C>A, NM_000049.2:c.654C>A, NM_000049.2:c.433-2A>G, NM_000049.2:c.854A>C, NM_000049.2:c.914C>A, NM_000049.2:c.212G>A, NM_000049.2:c.863A>G |
| ASPM | Microcephaly primary, type 5, autosomal recessive | NM_018136.4 | NM_018136.4:c.1002delA, NM_018136.4:c.3055C>T, NM_018136.4:c.2389C>T, NM_018136.4:c.2967G>A, NM_018136.4:c.1260_1266delTCAAGTC, NM_018136.4:c.10059C>A, NM_018136.4:c.1154_1155delAG, NM_018136.4:c.1179delT, NM_018136.4:c.1729_1730delAG, NM_018136.4:c.1959_1962delCAAA, NM_018136.4:c.1990C>T, NM_018136.4:c.3979C>T, NM_018136.4:c.4195dupA, NM_018136.4:c.4583delA, NM_018136.4:c.4795C>T, NM_018136.4:c.4858_4859delAT, NM_018136.4:c.5136C>A, NM_018136.4:c.5149delA, NM_018136.4:c.1366G>T, NM_018136.4:c.1406_1413delATCCTAAA, NM_018136.4:c.1590delA, NM_018136.4:c.6189T>G, NM_018136.4:c.6232C>T, NM_018136.4:c.6337_6338delAT, NM_018136.4:c.6732delA, NM_018136.4:c.719_720delCT, NM_018136.4:c.7491_7495delTATTA, NM_018136.4:c.7565T>G, NM_018136.4:c.7761T>G, NM_018136.4:c.7782_7783delGA, NM_018136.4:c.7860_7861delGA, NM_018136.4:c.7894C>T, NM_018136.4:c.8131_8132delAA, NM_018136.4:c.8230_8231insA, NM_018136.4:c.8378delT, NM_018136.4:c.8508_8509delGA, NM_018136.4:c.8668C>T, NM_018136.4:c.8844delC, NM_018136.4:c.9115_9118dupCATT, NM_018136.4:c.9159delA, NM_018136.4:c.9178C>T, NM_018136.4:c.3082G>A, NM_018136.4:c.3188T>G, NM_018136.4:c.3477_3481delCGCTA, NM_018136.4:c.349C>T, NM_018136.4:c.3527C>G, NM_018136.4:c.3663delG, NM_018136.4:c.3710C>G, NM_018136.4:c.3796G>T, NM_018136.4:c.3811C>T, NM_018136.4:c.3978G>A, NM_018136.4:c.9747_9748delCT, NM_018136.4:c.9754delA, NM_018136.4:c.9789T>A, NM_018136.4:c.8711_8712delAA, NM_018136.4:c.9190C>T, NM_018136.4:c.9238A>T, NM_018136.4:c.9319C>T, NM_018136.4:c.5439_5440delAG, NM_018136.4:c.577C>T, NM_018136.4:c.6073delG, NM_018136.4:c.9677dupG, NM_018136.4:c.9685delA, NM_018136.4:c.9697C>T, NM_018136.4:c.9730C>T, NM_018136.4:c.9557C>G, NM_018136.4:c.9492T>G, NM_018136.4:c.9539A>C |
| ASS1 | Citrullinemia type 1 | NM_000050.4 | NM_000050.4:c.421-2A>G, NM_000050.4:c.40G>A, NM_000050.4:c.1088G>A, NM_000050.4:c.470G>A, NM_000050.4:c.1085G>T, NM_000050.4:c.1087C>T, NM_000050.4:c.257G>A, NM_000050.4:c.323G>T, NM_000050.4:c.349G>A, NM_000050.4:c.380G>A, NM_000050.4:c.836G>A, NM_000050.4:c.910C>T, NM_000050.4:c.928A>C, NM_000050.4:c.496-2A>G, NM_000050.4:c.535T>C, NM_000050.4:c.539G>A, NM_000050.4:c.53C>T, NM_000050.4:c.571G>A, NM_000050.4:c.787G>A, NM_000050.4:c.793C>T, NM_000050.4:c.794G>A, NM_000050.4:c.805G>A, NM_000050.4:c.835C>T, NM_000050.4:c.919C>T, NM_000050.4:c.970G>A, NM_000050.4:c.814C>T, NM_000050.4:c.970+5G>A, NM_000050.4:c.1168G>A, NM_000050.4:c.1194-1G>C, NM_000050.4:c.256C>T |
| ATIC | AICA-ribosiduria | NM_004044.6 | NM_004044.6:c.223+1G>A, NM_004044.6:c.1277A>G, NM_004044.6:c.625delG |
| ATP7A | Menkes disease | NM_000052.6 | NM_000052.6:c.2938C>T, NM_000052.6:c.2531G>A, NM_000052.6:c.1639C>T, NM_000052.6:c.1974_1977dupGTTT, NM_000052.6:c.3257_3258delAC, NM_000052.6:c.3294+2T>G, NM_000052.6:c.3915_3921delCTCCCCA, NM_000052.6:c.3931A>G |
| ATP7A | Occipital horn syndrome | NM_000052.6 | NM_000052.6:c.3911A>G |
| ATP7A | Spinal muscular atrophy, distal, X-linked | NM_000052.6 | NM_000052.6:c.2981C>T |
| ATP7B | Wilson disease | NM_000053.3 | NM_000053.3:c.2532delA, NM_000053.3:c.2356-2A>G, NM_000053.3:c.1285+5G>T, NM_000053.3:c.2305A>G, NM_000053.3:c.1145_1151delCCCAACT, NM_000053.3:c.1934T>G, NM_000053.3:c.2071G>A, NM_000053.3:c.2297C>G, NM_000053.3:c.2972C>T, NM_000053.3:c.2975C>T, NM_000053.3:c.3083delA, NM_000053.3:c.2605G>A, NM_000053.3:c.2621C>T, NM_000053.3:c.2755C>G, NM_000053.3:c.2755C>T, NM_000053.3:c.2762G>A, NM_000053.3:c.2795C>A, NM_000053.3:c.2804C>T, NM_000053.3:c.2807T>A, NM_000053.3:c.2906G>A, NM_000053.3:c.2930C>T, NM_000053.3:c.4301C>T, NM_000053.3:c.915T>A, NM_000053.3:c.98T>C, NM_000053.3:c.1745_1746delTA, NM_000053.3:c.2123T>C, NM_000053.3:c.2267C>T, NM_000053.3:c.4088C>T, NM_000053.3:c.4135C>T, NM_000053.3:c.1512_1513insT, NM_000053.3:c.19_20delCA, NM_000053.3:c.1922T>C, NM_000053.3:c.3955C>T, NM_000053.3:c.3990_3993delTTAT, NM_000053.3:c.4058G>A, NM_000053.3:c.3207C>A, NM_000053.3:c.3359T>A, NM_000053.3:c.3688A>G, NM_000053.3:c.3101A>G, NM_000053.3:c.3796G>A, NM_000053.3:c.3809A>G, NM_000053.3:c.562C>T, NM_000053.3:c.3694A>C, NM_000053.3:c.1846C>T |
| ATR | Seckel syndrome type 1 | NM_001184.3 | NM_001184.3:c.2341+1G>A, NM_001184.3:c.5645delA, NM_001184.3:c.6037_6038insA, NM_001184.3:c.6488delT, NM_001184.3:c.975_976delCT, NM_001184.3:c.5635G>T |
| AUH | 3-Methylglutaconic aciduria type 1 | NM_001698.2 | NM_001698.2:c.471delT, NM_001698.2:c.559G>A, NM_001698.2:c.589C>T, NM_001698.2:c.650G>A, NM_001698.2:c.895-1G>A, NM_001698.2:c.991A>T, NM_001698.2:c.656-2A>G, NM_001698.2:c.943-2A>G |
| B4GALT1 | Congenital disorders of glycosylation type 2d | NM_001497.3 | NM_001497.3:c.1031dupC |
| B9D2 | Meckel syndrome type 10 | NM_030578.3 | NM_030578.3:c.301A>C |
| BCKDHA | Maple syrup urine disease type 1A | NM_000709.3 | NM_000709.3:c.1037G>A, NM_000709.3:c.1036C>T, NM_000709.3:c.1234G>A, NM_000709.3:c.14delT, NM_000709.3:c.761C>A, NM_000709.3:c.929C>G, NM_000709.3:c.964C>T, NM_000709.3:c.979G>A, NM_000709.3:c.905A>C, NM_000709.3:c.632C>T, NM_000709.3:c.659C>T, NM_000709.3:c.740_741insT, NM_000709.3:c.868G>A, NM_000709.3:c.909_910delGT, NM_000709.3:c.917delT, NM_000709.3:c.853G>C, NM_000709.3:c.796delA |
| BCKDHB | Maple syrup urine disease type 1B | NM_183050.2 | NM_183050.2:c.1046G>A, NM_183050.2:c.547C>T, NM_183050.2:c.509G>A, NM_183050.2:c.526A>T, NM_183050.2:c.344-1G>A, NM_183050.2:c.1114G>T, NM_183050.2:c.302G>A, NM_183050.2:c.342T>G, NM_183050.2:c.508C>A, NM_183050.2:c.508C>G, NM_183050.2:c.508C>T, NM_183050.2:c.748G>T, NM_183050.2:c.752T>C, NM_183050.2:c.799C>T, NM_183050.2:c.548G>C, NM_183050.2:c.884delT, NM_183050.2:c.902T>G, NM_183050.2:c.952-1G>A, NM_183050.2:c.853C>T, NM_183050.2:c.832G>A, NM_183050.2:c.356T>G, NM_183050.2:c.970C>T, NM_183050.2:c.488A>T, NM_183050.2:c.479T>G |
| BCS1L | Björnstad syndrome | NM_004328.4 | NM_004328.4:c.548G>A |
| BCS1L | GRACILE syndrome | NM_004328.4 | NM_004328.4:c.232A>G |
| BCS1L | Mitochondrial comlpex III deficiency, nuclear type 1 | NM_004328.4 | NM_004328.4:c.1057G>A, NM_004328.4:c.830G>A, NM_004328.4:c.133C>T, NM_004328.4:c.103G>C, NM_004328.4:c.696delT, NM_004328.4:c.148A>G, NM_004328.4:c.166C>T, NM_004328.4:c.550C>T, NM_004328.4:c.547C>T |
| BEST1 | Bestrophinopathy | NM_004183.3 | NM_004183.3:c.934G>A, NM_004183.3:c.598C>T, NM_004183.3:c.752G>A, NM_004183.3:c.949G>A, NM_004183.3:c.521_522delTG |
| BEST1 | Retinitis pigmentosa type 50 | NM_004183.3 | NM_004183.3:c.1383_1384insGCCTTGATGGA, NM_004183.3:c.1444delG, NM_004183.3:c.1491_1497dupCAAAGAC, NM_004183.3:c.1566_1576dupCTTGATGGAGC, NM_004183.3:c.341_342delTG, NM_004183.3:c.1308_1309insACCAAAG, NM_004183.3:c.1264delG, NM_004183.3:c.418C>G, NM_004183.3:c.614T>C, NM_004183.3:c.682G>A, NM_004183.3:c.344delG, NM_004183.3:c.524delG |
| BEST1 | Vitelliform macular dystrophy type 2 | NM_004183.3 | NM_004183.3:c.122T>C, NM_004183.3:c.422G>A |
| BRCA2 | Fanconi anemia, complementation group D1 | NM_000059.3 | NM_000059.3:c.1514T>C, NM_000059.3:c.4648G>T, NM_000059.3:c.8415A>T, NM_000059.3:c.7544C>T, NM_000059.3:c.7994A>G, NM_000059.3:c.5574_5577delAATT, NM_000059.3:c.4889C>G, NM_000059.3:c.4936_4939delGAAA, NM_000059.3:c.5066_5067insA, NM_000059.3:c.6024dupG, NM_000059.3:c.6860delG, NM_000059.3:c.7235C>A, NM_000059.3:c.9382C>T, NM_000059.3:c.9900dupA, NM_000059.3:c.3847_3848delGT, NM_000059.3:c.5718_5719delCT, NM_000059.3:c.5837_5838delCAinsAG, NM_000059.3:c.6023_6024insG, NM_000059.3:c.8503T>C, NM_000059.3:c.6486_6489delACAA, NM_000059.3:c.657_658delTG, NM_000059.3:c.6997_6998insT |
| BRIP1 | Fanconi anemia, complementation group J | NM_032043.2 | NM_032043.2:c.2990_2993delCAAA, NM_032043.2:c.1045G>C, NM_032043.2:c.2237_2240delTCAA, NM_032043.2:c.3209C>A, NM_032043.2:c.502C>T, NM_032043.2:c.139C>G, NM_032043.2:c.1702_1703delAA, NM_032043.2:c.2392C>T |
| BSCL2 | Berardinelli-Seip congenital lipodystrophy | NM_032667.6 | NM_032667.6:c.634G>C, NM_032667.6:c.412C>T, NM_032667.6:c.782_783insG, NM_032667.6:c.823C>T, NM_032667.6:c.985C>T, NM_032667.6:c.672-3C>G, NM_032667.6:c.974_975insG, NM_032667.6:c.671+5G>A |
| BSCL2 | Severe neurodegenerative syndrome with lipodystrophy | NM_032667.6 | NM_032667.6:c.793C>T |
| BSND | Bartter syndrome type 4A | NM_057176.2 | NM_057176.2:c.1A>T, NM_057176.2:c.22C>T, NM_057176.2:c.3G>A, NM_057176.2:c.10G>T, NM_057176.2:c.23G>T, NM_057176.2:c.35T>C, NM_057176.2:c.23G>A, NM_057176.2:c.139G>A |
| BTD | Biotinidase deficiency | NM_000060.3 | NM_000060.3:c.1531C>G, NM_000060.3:c.1508_1512delGGATG, NM_000060.3:c.1339C>T, NM_000060.3:c.1352G>A, NM_000060.3:c.1489C>T, NM_000060.3:c.643C>T, NM_000060.3:c.664G>A, NM_000060.3:c.755A>G, NM_000060.3:c.1368A>C, NM_000060.3:c.933delT, NM_000060.3:c.1595C>T, NM_000060.3:c.1612C>T, NM_000060.3:c.757C>T, NM_000060.3:c.1106C>T, NM_000060.3:c.1321delG, NM_000060.3:c.794A>T, NM_000060.3:c.595G>A, NM_000060.3:c.629A>G, NM_000060.3:c.631C>T, NM_000060.3:c.235C>T, NM_000060.3:c.334G>C, NM_000060.3:c.511G>A, NM_000060.3:c.184G>A, NM_000060.3:c.557G>A, NM_000060.3:c.583A>G, NM_000060.3:c.968A>G, NM_000060.3:c.528G>T, NM_000060.3:c.443G>A |
| BTK | Agammaglobulinemia, X-linked | NM_000061.2 | NM_000061.2:c.1275C>A, NM_000061.2:c.1506C>A, NM_000061.2:c.1125T>G, NM_000061.2:c.1223T>C, NM_000061.2:c.1288A>G, NM_000061.2:c.1082A>G, NM_000061.2:c.763C>T, NM_000061.2:c.1516T>C, NM_000061.2:c.718G>T, NM_000061.2:c.755G>A, NM_000061.2:c.1766A>G, NM_000061.2:c.1773C>A, NM_000061.2:c.1558C>T, NM_000061.2:c.1559G>A, NM_000061.2:c.1889T>A, NM_000061.2:c.1906G>T, NM_000061.2:c.338T>A, NM_000061.2:c.1820C>A, NM_000061.2:c.862C>T, NM_000061.2:c.919A>G, NM_000061.2:c.1838G>A, NM_000061.2:c.1001A>C |
| C10orf2 | Infantile onset spinocerebellar ataxia | NM_021830.4 | NM_021830.4:c.1523A>G |
| C10orf2 | Mitochondrial DNA depletion syndrome, hepatocerebrorenal form | NM_021830.4 | NM_021830.4:c.1287C>T, NM_021830.4:c.952G>A, NM_021830.4:c.1370C>T, NM_021830.4:c.524_525insG |
| C10orf2 | Sensory ataxic neuropathy - dysarthria - ophthalmoparesis | NM_021830.4 | NM_021830.4:c.955A>G |
| C3 | Atypical hemolytic-uremic syndrome with C3 anomaly | NM_000064.2 | NM_000064.2:c.2562C>G |
| C3 | C3 deficiency | NM_000064.2 | NM_000064.2:c.2354+1G>A, NM_000064.2:c.4851-1G>A, NM_000064.2:c.1119+1G>T, NM_000064.2:c.3116dupT, NM_000064.2:c.3627_3628insGGGGCCC, NM_000064.2:c.1004-2A>T |
| CA2 | Osteopetrosis, autosomal recessive, type 3 | NM_000067.2 | NM_000067.2:c.663+2T>C, NM_000067.2:c.319C>T, NM_000067.2:c.120T>G |
| CAPN3 | Limb-girdle muscular dystrophy type 2A | NM_000070.2 | NM_000070.2:c.1838delA, NM_000070.2:c.2120A>G, NM_000070.2:c.1795_1796insA, NM_000070.2:c.1469G>A, NM_000070.2:c.1599_1602delGAGC, NM_000070.2:c.1715G>A, NM_000070.2:c.1743_1745+1delTGAG, NM_000070.2:c.257C>T, NM_000070.2:c.328C>T, NM_000070.2:c.549delA, NM_000070.2:c.2212C>T, NM_000070.2:c.223dupT, NM_000070.2:c.2243G>A, NM_000070.2:c.2251_2254dupGTCA, NM_000070.2:c.2257G>A, NM_000070.2:c.2306G>A, NM_000070.2:c.2361_2363delAGinsTCATCT, NM_000070.2:c.2361_2364delAGinsTCATCT, NM_000070.2:c.2362_2363delAGinsTCATCT, NM_000070.2:c.246G>A, NM_000070.2:c.676G>A, NM_000070.2:c.551C>T, NM_000070.2:c.580delT, NM_000070.2:c.133G>A, NM_000070.2:c.550delA, NM_000070.2:c.1468C>T, NM_000070.2:c.956C>T, NM_000070.2:c.1322delG, NM_000070.2:c.1466G>A, NM_000070.2:c.662G>T, NM_000070.2:c.855_864dupGTTGATTGCA, NM_000070.2:c.1610A>G, NM_000070.2:c.598_612delTTCTGGAGTGCTCTG |
| CBS | Homocystinuria | NM_000071.2 | NM_000071.2:c.1150A>G, NM_000071.2:c.1058C>T, NM_000071.2:c.1136G>A, NM_000071.2:c.341C>T, NM_000071.2:c.1006C>T, NM_000071.2:c.325T>C, NM_000071.2:c.1316G>A, NM_000071.2:c.374G>A, NM_000071.2:c.1265C>T, NM_000071.2:c.1280C>T, NM_000071.2:c.146C>T, NM_000071.2:c.1471C>T, NM_000071.2:c.1616T>C, NM_000071.2:c.162G>A, NM_000071.2:c.833T>C, NM_000071.2:c.904G>A, NM_000071.2:c.919G>A, NM_000071.2:c.393G>C, NM_000071.2:c.415G>A, NM_000071.2:c.430G>A, NM_000071.2:c.434C>T, NM_000071.2:c.502G>A, NM_000071.2:c.526G>T, NM_000071.2:c.572C>T, NM_000071.2:c.676G>A, NM_000071.2:c.689delT, NM_000071.2:c.797G>A, NM_000071.2:c.959T>C, NM_000071.2:c.969G>A, NM_000071.2:c.992C>A, NM_000071.2:c.1330G>A, NM_000071.2:c.1379C>T, NM_000071.2:c.1397C>T, NM_000071.2:c.304A>C |
| CC2D2A | Joubert syndrome type 9 | NM_001080522.2 | NM_001080522.2:c.4179delG, NM_001080522.2:c.3594+1G>A, NM_001080522.2:c.3289delG, NM_001080522.2:c.4582C>T, NM_001080522.2:c.4667A>T, NM_001080522.2:c.2848C>T, NM_001080522.2:c.3364C>T, NM_001080522.2:c.4333C>T, NM_001080522.2:c.4181delG |
| CC2D2A | Meckel syndrome type 6 | NM_001080522.2 | NM_001080522.2:c.3145C>T, NM_001080522.2:c.2486+1G>C |
| CD2AP | Focal segmental glomerulosclerosis type 3 | NM_012120.2 | NM_012120.2:c.730-1delGinsCT, NM_012120.2:c.1575_1577delAGA, NM_012120.2:c.1488G>A |
| CD40LG | Hyper IgM syndrome, X-linked | NM_000074.2 | NM_000074.2:c.386A>G, NM_000074.2:c.368C>A, NM_000074.2:c.384T>A, NM_000074.2:c.632C>A, NM_000074.2:c.107T>G |
| CDH23 | Deafness type 12, autosomal recessive | NM_022124.5 | NM_022124.5:c.6442G>A, NM_022124.5:c.5663T>C, NM_022124.5:c.9565C>T, NM_022124.5:c.7823G>A, NM_022124.5:c.902G>A |
| CDH23 | Usher syndrome type 1D | NM_022124.5 | NM_022124.5:c.288+1G>A, NM_022124.5:c.193delC, NM_022124.5:c.6050-9G>A, NM_022124.5:c.3141C>A, NM_022124.5:c.146-2A>G, NM_022124.5:c.4504C>T, NM_022124.5:c.3516_3519delATCC, NM_022124.5:c.3579+2T>C, NM_022124.5:c.3293A>G, NM_022124.5:c.9319+1_9319+4delGTAA, NM_022124.5:c.5237G>A, NM_022124.5:c.1858+2T>G, NM_022124.5:c.6392delC, NM_022124.5:c.7660G>A |
| CDH3 | Ectodermal dysplasia - ectrodactyly - macular dystrophy | NM_001793.4 | NM_001793.4:c.455_456insC, NM_001793.4:c.981delG, NM_001793.4:c.1508G>A, NM_001793.4:c.965A>T, NM_001793.4:c.830delG, NM_001793.4:c.965A>G |
| CDHR1 | Retinitis pigmentosa type 65 | NM_033100.3 | NM_033100.3:c.1485+2T>C, NM_033100.3:c.1463delG, NM_033100.3:c.1110delC, NM_033100.3:c.338delG, NM_033100.3:c.524dupA, NM_033100.3:c.1485+2T>G, NM_033100.3:c.1112delC, NM_033100.3:c.640delG |
| CDK5RAP2 | Microcephaly, primary, type 3, autosomal recessive | NM_018249.5 | NM_018249.5:c.4661_4662insTATT, NM_018249.5:c.246T>A, NM_018249.5:c.4546G>T, NM_018249.5:c.127+1G>C, NM_018249.5:c.4672C>T, NM_018249.5:c.524_528delAGGCA, NM_018249.5:c.700G>T |
| CENPJ | Microcephaly primary, type 6, autosomal recessive | NM_018451.4 | NM_018451.4:c.3243_3246delTCAG, NM_018451.4:c.2614delT, NM_018451.4:c.3415G>T, NM_018451.4:c.3653C>T, NM_018451.4:c.2462C>T, NM_018451.4:c.3699_3702dupAATA, NM_018451.4:c.3568_3571dupGTCA, NM_018451.4:c.3843_3844insTA, NM_018451.4:c.757_760delGTCT, NM_018451.4:c.1952_1953insAGTG, NM_018451.4:c.3704A>T, NM_018451.4:c.232_236delCAGAA, NM_018451.4:c.2460_2463delGACG, NM_018451.4:c.2968_2972delAAAAA, NM_018451.4:c.40C>T, NM_018451.4:c.289dupA |
| CEP152 | Microcephaly, primary, type 9, autosomal recessive | NM_014985.3 | NM_014985.3:c.794A>C, NM_014985.3:c.749_750delGA |
| CEP152 | Seckel syndrome type 5 | NM_014985.3 | NM_014985.3:c.2034T>G, NM_014985.3:c.1578-1G>A |
| CEP290 | Joubert syndrome, Senior-Loken type | NM_025114.3 | NM_025114.3:c.5611_5614delCAAA, NM_025114.3:c.164_167delCTCA |
| CEP290 | Joubert syndrome type 5 | NM_025114.3 | NM_025114.3:c.4656delA, NM_025114.3:c.21G>T, NM_025114.3:c.5668G>T |
| CEP290 | Leber congenital amaurosis type 10 | NM_025114.3 | NM_025114.3:c.7341_7342insA, NM_025114.3:c.4705-1G>T, NM_025114.3:c.4723A>T, NM_025114.3:c.4962_4963delAA, NM_025114.3:c.4916C>A, NM_025114.3:c.6624delG, NM_025114.3:c.6645+1G>A, NM_025114.3:c.7324G>T, NM_025114.3:c.6798G>A, NM_025114.3:c.7394_7395delAG, NM_025114.3:c.1681C>T, NM_025114.3:c.7341delA, NM_025114.3:c.6448_6455delCAGTTGAA, NM_025114.3:c.1665_1666delAA, NM_025114.3:c.384_387delTAGA, NM_025114.3:c.2249T>G, NM_025114.3:c.3185delT, NM_025114.3:c.4393C>T, NM_025114.3:c.1501G>T |
| CEP290 | Meckel syndrome type 4 | NM_025114.3 | NM_025114.3:c.613C>T |
| CERKL | Retinitis pigmentosa tipo 26 | NM_201548.4 | NM_201548.4:c.1012C>T, NM_201548.4:c.1090C>T, NM_201548.4:c.312delA, NM_201548.4:c.715C>T, NM_201548.4:c.769C>T, NM_201548.4:c.780delT, NM_201548.4:c.847C>T, NM_201548.4:c.1553_1569dupTTATCAGTCTTTATGGA |
| CFH | Complement factor H deficiency | NM_000186.3 | NM_000186.3:c.3628C>T, NM_000186.3:c.2876G>A, NM_000186.3:c.380G>T, NM_000186.3:c.481G>T, NM_000186.3:c.1606T>C |
| CFTR | Cystic fibrosis | NM_000492.3 | NM_000492.3:c.1327_1330dupGATA, NM_000492.3:c.1210-7_1210-6delTT, NM_000492.3:c.125C>T, NM_000492.3:c.1301_1307delCACTTCT, NM_000492.3:c.1397C>A, NM_000492.3:c.1340delA, NM_000492.3:c.1364C>A, NM_000492.3:c.1393-1G>A, NM_000492.3:c.1438G>T, NM_000492.3:c.1466C>A, NM_000492.3:c.1475C>T, NM_000492.3:c.1477C>T, NM_000492.3:c.1516A>G, NM_000492.3:c.1519_1521delATC, NM_000492.3:c.1521_1523delCTT, NM_000492.3:c.1545_1546delTA, NM_000492.3:c.1624G>T, NM_000492.3:c.1692delA, NM_000492.3:c.1706A>G, NM_000492.3:c.1721C>A, NM_000492.3:c.178G>T, NM_000492.3:c.1970delG, NM_000492.3:c.200C>T, NM_000492.3:c.2012delT, NM_000492.3:c.2051_2052delAAinsG, NM_000492.3:c.2052_2053insA, NM_000492.3:c.2052delA, NM_000492.3:c.1000C>T, NM_000492.3:c.1007T>A, NM_000492.3:c.1013C>T, NM_000492.3:c.1021T>C, NM_000492.3:c.1022_1023insTC, NM_000492.3:c.1040G>A, NM_000492.3:c.1040G>C, NM_000492.3:c.1055G>A, NM_000492.3:c.1081delT, NM_000492.3:c.115C>T, NM_000492.3:c.2538G>A, NM_000492.3:c.254G>A, NM_000492.3:c.2551C>T, NM_000492.3:c.2583delT, NM_000492.3:c.262_263delTT, NM_000492.3:c.2657+5G>A, NM_000492.3:c.2668C>T, NM_000492.3:c.273+1G>A, NM_000492.3:c.2737_2738insG, NM_000492.3:c.2739T>A, NM_000492.3:c.274-1G>A, NM_000492.3:c.274G>A, NM_000492.3:c.274G>T, NM_000492.3:c.2780T>C, NM_000492.3:c.2834C>T, NM_000492.3:c.2855T>C, NM_000492.3:c.2869_2870insG, NM_000492.3:c.2875delG, NM_000492.3:c.2908G>C, NM_000492.3:c.292C>T, NM_000492.3:c.2939T>A, NM_000492.3:c.2989-1G>A, NM_000492.3:c.3067_3072delATAGTG, NM_000492.3:c.3140-26A>G, NM_000492.3:c.3194T>C, NM_000492.3:c.3196C>T, NM_000492.3:c.3197G>A, NM_000492.3:c.3230T>C, NM_000492.3:c.325_327delTATinsG, NM_000492.3:c.3266G>A, NM_000492.3:c.3276C>A, NM_000492.3:c.3276C>G, NM_000492.3:c.328G>C, NM_000492.3:c.328G>T, NM_000492.3:c.3302T>A, NM_000492.3:c.3310G>T, NM_000492.3:c.349C>T, NM_000492.3:c.350G>T, NM_000492.3:c.3528delC, NM_000492.3:c.3533_3536delCAAC, NM_000492.3:c.3587C>G, NM_000492.3:c.358G>A, NM_000492.3:c.3611G>A, NM_000492.3:c.3612G>A, NM_000492.3:c.3659delC, NM_000492.3:c.366T>A, NM_000492.3:c.3731G>A, NM_000492.3:c.3744delA, NM_000492.3:c.3752G>A, NM_000492.3:c.3761T>G, NM_000492.3:c.3764C>A, NM_000492.3:c.3773_3774insT, NM_000492.3:c.3846G>A, NM_000492.3:c.3909C>G, NM_000492.3:c.3937C>T, NM_000492.3:c.4056G>T, NM_000492.3:c.4077_4080delinsAA, NM_000492.3:c.4077_4080delTGTTinsAA, NM_000492.3:c.4251delA, NM_000492.3:c.4333G>A, NM_000492.3:c.4426C>T, NM_000492.3:c.442delA, NM_000492.3:c.445G>A, NM_000492.3:c.445G>T, NM_000492.3:c.446G>T, NM_000492.3:c.531delT, NM_000492.3:c.532G>A, NM_000492.3:c.571T>G, NM_000492.3:c.577G>T, NM_000492.3:c.579+1G>T, NM_000492.3:c.579+3A>G, NM_000492.3:c.579+5G>A, NM_000492.3:c.592G>A, NM_000492.3:c.595C>T, NM_000492.3:c.613C>T, NM_000492.3:c.617T>G, NM_000492.3:c.650A>G, NM_000492.3:c.658C>T, NM_000492.3:c.708delT, NM_000492.3:c.722_743delGGAGAATGATGATGAAGTACAG, NM_000492.3:c.803delA, NM_000492.3:c.935_937delTCT, NM_000492.3:c.988G>T, NM_000492.3:c.1046C>T, NM_000492.3:c.14C>T, NM_000492.3:c.1558G>A, NM_000492.3:c.1585-1G>A, NM_000492.3:c.1684G>C, NM_000492.3:c.1766+1G>A, NM_000492.3:c.1397C>G, NM_000492.3:c.1399C>T, NM_000492.3:c.1400T>C, NM_000492.3:c.3380G>A, NM_000492.3:c.3409A>G, NM_000492.3:c.3868C>A, NM_000492.3:c.489+1G>T, NM_000492.3:c.2537G>A, NM_000492.3:c.2125C>T, NM_000492.3:c.2128A>T, NM_000492.3:c.2175_2176insA, NM_000492.3:c.2052dupA, NM_000492.3:c.2195T>G, NM_000492.3:c.2215delG, NM_000492.3:c.223C>T, NM_000492.3:c.2175dupA, NM_000492.3:c.221G>A, NM_000492.3:c.2930C>T, NM_000492.3:c.3205G>A, NM_000492.3:c.2249C>T |
| CHST6 | Macular corneal dystrophy | NM_021615.4 | NM_021615.4:c.820G>T, NM_021615.4:c.853delC, NM_021615.4:c.993G>T, NM_021615.4:c.327_328delCT, NM_021615.4:c.392C>A |
| CLCN1 | Myotonia congenita, autosomal recessive | NM_000083.2 | NM_000083.2:c.1453A>G, NM_000083.2:c.409T>G, NM_000083.2:c.568G>A, NM_000083.2:c.899G>A, NM_000083.2:c.1169G>A, NM_000083.2:c.1238T>G, NM_000083.2:c.871G>A, NM_000083.2:c.180+3A>T, NM_000083.2:c.225dupC, NM_000083.2:c.501C>G, NM_000083.2:c.2680C>T |
| CLCN7 | Osteopetrosis type 4, autosomal recessive | NM_001287.5 | NM_001287.5:c.622C>T, NM_001287.5:c.781A>T |
| CLDN14 | Deafness type 29, autosomal recessive | NM_144492.2 | NM_144492.2:c.254T>A, NM_144492.2:c.301G>A, NM_144492.2:c.398delT |
| CLDN19 | Hypomagnesemia type 5, renal failure with severe ocular abnormalities | NM_148960.2 | NM_148960.2:c.269T>C, NM_148960.2:c.425_437delCCCTGGTGACCCA, NM_148960.2:c.59G>A, NM_148960.2:c.169C>G, NM_148960.2:c.599G>A |
| CLN3 | Ceroid-lipofuscinoses neuronal type 3 | NM_001042432.1 | NM_001042432.1:c.883G>A, NM_001042432.1:c.597C>A, NM_001042432.1:c.622_623insT, NM_001042432.1:c.1272delG, NM_001042432.1:c.1210C>A |
| CLN5 | Neuronal ceroid lipofuscinosis type 5 | NM_006493.2 | NM_006493.2:c.619T>C, NM_006493.2:c.335G>A, NM_006493.2:c.377G>A, NM_006493.2:c.620G>C, NM_006493.2:c.669dupC, NM_006493.2:c.335G>C, NM_006493.2:c.565C>T, NM_006493.2:c.575A>G, NM_006493.2:c.593T>C, NM_006493.2:c.595C>T, NM_006493.2:c.613C>T, NM_006493.2:c.919delA, NM_006493.2:c.924_925delAT, NM_006493.2:c.955_970delGGAAATGAAACATCTG, NM_006493.2:c.835G>A, NM_006493.2:c.526dupA, NM_006493.2:c.1026C>A, NM_006493.2:c.524T>G, NM_006493.2:c.433C>T |
| CLN6 | Ceroid lipofuscinosis, neuronal, type 6 | NM_017882.2 | NM_017882.2:c.200T>C, NM_017882.2:c.214G>C, NM_017882.2:c.139C>T, NM_017882.2:c.307C>T, NM_017882.2:c.214G>T, NM_017882.2:c.663C>G |
| CLN8 | Ceroid lipofuscinosis, neuronal, type 8 | NM_018941.3 | NM_018941.3:c.88delG, NM_018941.3:c.789G>C, NM_018941.3:c.610C>T, NM_018941.3:c.88G>C |
| CLRN1 | Retinitis pigmentosa type 61 | NM_174878.2 | NM_174878.2:c.92C>T |
| CLRN1 | Usher syndrome type 3A | NM_174878.2 | NM_174878.2:c.591_592insT, NM_174878.2:c.630_631insT, NM_174878.2:c.118T>G, NM_174878.2:c.433+1061A>T, NM_174878.2:c.189C>A, NM_174878.2:c.144T>G |
| CNGA1 | Retinitis pigmentosa type 49 | NM_000087.3 | NM_000087.3:c.1747C>T, NM_000087.3:c.1540C>T, NM_000087.3:c.2071T>C, NM_000087.3:c.1927C>T, NM_000087.3:c.1271G>A, NM_000087.3:c.1001G>A, NM_000087.3:c.959C>T, NM_000087.3:c.97_98insA, NM_000087.3:c.449+2T>C, NM_000087.3:c.1972delA, NM_000087.3:c.238G>T, NM_000087.3:c.794G>A, NM_000087.3:c.238G>A |
| CNGB1 | Retinitis pigmentosa tipo 45 | NM_001297.4 | NM_001297.4:c.3150delG, NM_001297.4:c.2762_2765delACGA, NM_001297.4:c.2957A>T, NM_001297.4:c.413-1G>A, NM_001297.4:c.218-2A>G, NM_001297.4:c.2492+2T>G, NM_001297.4:c.3462+1G>A, NM_001297.4:c.2653delG, NM_001297.4:c.3425delT, NM_001297.4:c.1122-2A>T, NM_001297.4:c.1958-1G>A, NM_001297.4:c.952C>T |
| CNGB3 | Achromatopsia type 3 | NM_019098.4 | NM_019098.4:c.2011G>T, NM_019098.4:c.1063C>T, NM_019098.4:c.1208G>A, NM_019098.4:c.1672G>T, NM_019098.4:c.819_826delCAGACTCC, NM_019098.4:c.1148delC, NM_019098.4:c.886_890delACTTC, NM_019098.4:c.2048_2049delCA, NM_019098.4:c.446_447insT, NM_019098.4:c.893_897delCAAAA, NM_019098.4:c.887_896delCTTCTACAAA |
| CNGB3 | Macular degeneration, juvenile | NM_019098.4 | NM_019098.4:c.1405T>G |
| COL11A1 | Stickler syndrome type 2 | NM_001854.3 | NM_001854.3:c.1750dupG, NM_001854.3:c.2350G>C, NM_001854.3:c.4606C>G, NM_001854.3:c.4642C>G, NM_001854.3:c.3709-1G>A |
| COL17A1 | Epidermolysis bullosa, junctional, non-Herlitz type | NM_000494.3 | NM_000494.3:c.1898G>A, NM_000494.3:c.3827_3828insC, NM_000494.3:c.2228-3_2235delCAGGTCCTGCTinsTTG, NM_000494.3:c.1706delC, NM_000494.3:c.2336-2A>G, NM_000494.3:c.3897_3900delATCT, NM_000494.3:c.3908G>A, NM_000494.3:c.2336-1G>T, NM_000494.3:c.2965delA, NM_000494.3:c.3043C>T, NM_000494.3:c.3067C>T, NM_000494.3:c.3277+1G>A, NM_000494.3:c.3676C>T, NM_000494.3:c.4319_4320insC, NM_000494.3:c.433C>T, NM_000494.3:c.520_521delAG, NM_000494.3:c.4003_4004delGG, NM_000494.3:c.2551+1G>T, NM_000494.3:c.3800delC, NM_000494.3:c.2564T>G, NM_000494.3:c.2430_2431insCCGA, NM_000494.3:c.2383C>T, NM_000494.3:c.2944_2947+1delGAAGG |
| COL18A1 | Knobloch syndrome type 1 | NM_030582.3 | NM_030582.3:c.3367_3379delCCCCCAGGCCCAC, NM_030582.3:c.3493_3501delGGCCCCCCA, NM_030582.3:c.2797C>T, NM_030582.3:c.995_996insGACGTGAAAGAGGGG, NM_030582.3:c.3502_3511delGGCCCCCCAG, NM_030582.3:c.3618_3618+1delGG, NM_030582.3:c.994_995insGGACGTGAAAGAGGG, NM_030582.3:c.3517_3518delCC, NM_030582.3:c.1535_1536insGACGTGAAAGAGGGG, NM_030582.3:c.2589_2590delAG, NM_030582.3:c.4054_4055delCT, NM_030582.3:c.4463_4464insG |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular type | NM_000089.3 | NM_000089.3:c.3601G>T, NM_000089.3:c.1404+1G>A, NM_000089.3:c.559G>C, NM_000089.3:c.133-1G>A, NM_000089.3:c.1404+1G>C, NM_000089.3:c.240_247delGTATGATG, NM_000089.3:c.293_294insC |
| COL2A1 | Otospondylomegaepiphyseal dysplasia | NM_001844.4 | NM_001844.4:c.1052delG, NM_001844.4:c.3106C>T |
| COL4A3 | Alport syndrome, autosomal recessive | NM_000091.4 | NM_000091.4:c.345delG, NM_000091.4:c.346C>A, NM_000091.4:c.898G>A, NM_000091.4:c.4421T>C, NM_000091.4:c.2110delC, NM_000091.4:c.343delG, NM_000091.4:c.4420_4424delCTTTT, NM_000091.4:c.5002_*6delAAAAGACACTGAAGCTAA, NM_000091.4:c.2083G>A, NM_000091.4:c.2954G>T, NM_000091.4:c.4484A>G, NM_000091.4:c.4571C>G, NM_000091.4:c.4441C>T |
| COL4A4 | Alport syndrome, autosomal recessive | NM_000092.4 | NM_000092.4:c.3713C>A, NM_000092.4:c.4129C>T, NM_000092.4:c.4923C>A, NM_000092.4:c.3601G>A, NM_000092.4:c.2312delG, NM_000092.4:c.71+1G>A |
| COL7A1 | Epidermolysis bullosa dystrophica, Hallopeau-Siemens type | NM_000094.3 | NM_000094.3:c.4039G>C, NM_000094.3:c.425A>G, NM_000094.3:c.336C>G, NM_000094.3:c.3809C>T, NM_000094.3:c.4119+1G>T, NM_000094.3:c.6205C>T, NM_000094.3:c.6527_6528insC, NM_000094.3:c.6573+1G>T, NM_000094.3:c.6187C>T, NM_000094.3:c.6752G>A, NM_000094.3:c.6859G>A, NM_000094.3:c.6946G>A, NM_000094.3:c.6670G>T, NM_000094.3:c.1907G>T, NM_000094.3:c.2471_2472insG, NM_000094.3:c.7440+4delC, NM_000094.3:c.7912G>T, NM_000094.3:c.7930-1G>C, NM_000094.3:c.7957G>A, NM_000094.3:c.8245G>A, NM_000094.3:c.8371C>T, NM_000094.3:c.8393T>A, NM_000094.3:c.8440C>T, NM_000094.3:c.8479C>T, NM_000094.3:c.8524_8527+10delGAAGGTGAGGACAG, NM_000094.3:c.887delG, NM_000094.3:c.933C>A, NM_000094.3:c.238G>T, NM_000094.3:c.3831+1G>T, NM_000094.3:c.4373C>T, NM_000094.3:c.6091G>A, NM_000094.3:c.4888C>T, NM_000094.3:c.5052+1G>A, NM_000094.3:c.5096C>T, NM_000094.3:c.4783G>C, NM_000094.3:c.5443G>C, NM_000094.3:c.5532+1G>A, NM_000094.3:c.5821-1G>A, NM_000094.3:c.5287C>T, NM_000094.3:c.706C>T, NM_000094.3:c.7345-1G>A, NM_000094.3:c.592G>A, NM_000094.3:c.7411C>T |
| COL9A1 | Stickler syndrome type 4 | NM_001851.4 | NM_001851.4:c.883C>T, NM_001851.4:c.706C>T |
| COL9A2 | Stickler syndrome type 5 | NM_001852.3 | NM_001852.3:c.1918C>T, NM_001852.3:c.1097_1098insC, NM_001852.3:c.793-1G>C |
| COQ2 | Primary coenzyme Q10 deficiency type 1 | NM_015697.7 | NM_015697.7:c.683A>G, NM_015697.7:c.1197delT, NM_015697.7:c.590G>A, NM_015697.7:c.723delT, NM_015697.7:c.890A>G |
| CPS1 | Carbamoylphosphate synthetase type 1 deficiency | NM_001875.4 | NM_001875.4:c.1912C>T, NM_001875.4:c.697C>T, NM_001875.4:c.1631C>T, NM_001875.4:c.3556delA |
| CPT1A | Carnitine palmitoyltransferase type 1A deficiency | NM_001876.3 | NM_001876.3:c.1216C>T, NM_001876.3:c.1241C>T, NM_001876.3:c.1361A>G, NM_001876.3:c.222C>A, NM_001876.3:c.1079A>G, NM_001876.3:c.1436C>T, NM_001876.3:c.1493A>G, NM_001876.3:c.335_336delCC, NM_001876.3:c.1393G>T, NM_001876.3:c.281+1G>A, NM_001876.3:c.1538C>T, NM_001876.3:c.298C>T |
| CPT2 | Carnitine palmitoyltransferase deficiency, type 2 | NM_000098.2 | NM_000098.2:c.1239_1240delGA, NM_000098.2:c.1369A>T, NM_000098.2:c.1237C>T, NM_000098.2:c.680C>T, NM_000098.2:c.1437C>G, NM_000098.2:c.149C>A, NM_000098.2:c.1784delC, NM_000098.2:c.886C>T, NM_000098.2:c.1763C>G, NM_000098.2:c.359A>G, NM_000098.2:c.370C>T, NM_000098.2:c.1883A>C, NM_000098.2:c.1891C>T, NM_000098.2:c.1148T>A, NM_000098.2:c.638A>G, NM_000098.2:c.725_726delAC, NM_000098.2:c.452G>A, NM_000098.2:c.338C>T, NM_000098.2:c.481C>T, NM_000098.2:c.464dupT, NM_000098.2:c.520G>A |
| CRB1 | Leber congenital amaurosis type 8 | NM_201253.2 | NM_201253.2:c.3299T>G, NM_201253.2:c.3383delT, NM_201253.2:c.3419T>A, NM_201253.2:c.3094G>A, NM_201253.2:c.936T>G, NM_201253.2:c.493_501delGATGGAATT, NM_201253.2:c.3997G>T, NM_201253.2:c.498_506delAATTGATGG, NM_201253.2:c.2688T>A, NM_201253.2:c.613_619delATAGGAA, NM_201253.2:c.2401A>T, NM_201253.2:c.610_616delGAAATAG |
| CRB1 | Pigmented paravenous chorioretinal atrophy | NM_201253.2 | NM_201253.2:c.484G>A |
| CRB1 | Retinitis pigmentosa type 12 | NM_201253.2 | NM_201253.2:c.3053_3054insTTATA, NM_201253.2:c.3122T>C, NM_201253.2:c.2416G>T, NM_201253.2:c.2843G>A, NM_201253.2:c.3299T>C, NM_201253.2:c.2983G>T, NM_201253.2:c.2290C>T |
| CRLF1 | Cold-induced sweating syndrome | NM_004750.4 | NM_004750.4:c.538C>T, NM_004750.4:c.303delC, NM_004750.4:c.413C>T, NM_004750.4:c.527+5G>A, NM_004750.4:c.226T>G, NM_004750.4:c.829C>T, NM_004750.4:c.397+1G>A, NM_004750.4:c.708_709delCCinsT, NM_004750.4:c.713_714insC, NM_004750.4:c.1125delG, NM_004750.4:c.676dupA, NM_004750.4:c.856-1G>A, NM_004750.4:c.852G>T, NM_004750.4:c.935G>A, NM_004750.4:c.1137C>G, NM_004750.4:c.845_846delTG |
| CRTAP | Osteogenesis imperfecta type 7 | NM_006371.4 | NM_006371.4:c.826C>T, NM_006371.4:c.180G>A, NM_006371.4:c.561T>G, NM_006371.4:c.634C>T |
| CRX | Leber congenital amaurosis type 7 | NM_000554.4 | NM_000554.4:c.425A>G, NM_000554.4:c.196G>A, NM_000554.4:c.898T>C |
| CSTB | Progressive myoclonic epilepsy type 1A | NM_000100.3 | NM_000100.3:c.212A>C, NM_000100.3:c.202C>T |
| CTNS | Cystinosis, ocular nonnephropathic | NM_004937.2 | NM_004937.2:c.589G>A, NM_004937.2:c.853-3C>G |
| CTNS | Nephropathic cystinosis | NM_004937.2 | NM_004937.2:c.416C>T, NM_004937.2:c.414G>A, NM_004937.2:c.124G>A, NM_004937.2:c.357_360delCAGC, NM_004937.2:c.397_398delAT, NM_004937.2:c.1015G>A, NM_004937.2:c.646dupA, NM_004937.2:c.283G>T, NM_004937.2:c.329G>T, NM_004937.2:c.506G>A |
| CTSD | Ceroid lipofuscinosis, neuronal, type 10 | NM_001909.4 | NM_001909.4:c.685T>A, NM_001909.4:c.1149G>C |
| CTSK | Pycnodysostosis | NM_000396.3 | NM_000396.3:c.236G>A, NM_000396.3:c.154A>T, NM_000396.3:c.436G>C, NM_000396.3:c.926T>C, NM_000396.3:c.721C>T |
| CYP21A2 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | - | hybrid 5'CYP21A1P/3'CYP21A2, hybrid 5'CYP21A2/3'CYP21A1P (Detection by MLPA) |
| CYP21A2 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | NM_000500.7 | NM_000500.7:c.518T>A, NM_000500.7:c.955C>T, NM_000500.7:c.1069C>T, NM_000500.7:c.719T>A, NM_000500.7:c.[713T>A;719T>A], NM_000500.7:c.293-13A/C>G, NM_000500.7:c.332_339del, NM_000500.7:c.[710T>A;719T>A], NM_000500.7:c.923_924insT, NM_000500.7:c.[710T>A;713T>A], NM_000500.7:c.713T>A, NM_000500.7:c.[710T>A;713T>A;719T>A], NM_000500.7:c.710T>A (Detection by minisequencing) |
| CYP21A2 | Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | NM_000500.7 | NM_000500.7:c.92C>T, NM_000500.7:c.844G>T, NM_000500.7:c.1360C>T (Detection by minisequencing) |
| CYP4V2 | Bietti crystalline corneoretinal dystrophy | NM_207352.3 | NM_207352.3:c.1523G>A, NM_207352.3:c.130T>A, NM_207352.3:c.327+1G>A, NM_207352.3:c.332T>C |
| CYP7B1 | Congenital bile acid synthesis defect type 3 | NM_004820.3 | NM_004820.3:c.1162C>T |
| CYP7B1 | Spastic paraplegia type 5A, autosomal recessive | NM_004820.3 | NM_004820.3:c.1460_1461insT, NM_004820.3:c.321_324delACAA, NM_004820.3:c.825T>A, NM_004820.3:c.889A>G, NM_004820.3:c.1456C>T, NM_004820.3:c.187C>T |
| D2HGDH | D-2-Hydroxyglutaric aciduria | NM_152783.4 | NM_152783.4:c.1315A>G, NM_152783.4:c.1276G>A, NM_152783.4:c.440T>G, NM_152783.4:c.1333_1334delAC, NM_152783.4:c.1123G>T, NM_152783.4:c.1331T>C |
| DBT | Maple syrup urine disease type 2 | NM_001918.3 | NM_001918.3:c.670G>T, NM_001918.3:c.827T>G, NM_001918.3:c.294C>G, NM_001918.3:c.581C>G, NM_001918.3:c.772+1G>A, NM_001918.3:c.272_275delCAGT, NM_001918.3:c.1281+1G>A, NM_001918.3:c.871C>T, NM_001918.3:c.901C>T, NM_001918.3:c.939G>C, NM_001918.3:c.126T>G |
| DCLRE1C | Omenn syndrome | NM_001033855.2 | NM_001033855.2:c.2T>C |
| DCLRE1C | Severe combined immunodeficiency due to DCLRE1C deficiency | NM_001033855.2 | NM_001033855.2:c.1558_1559insA, NM_001033855.2:c.597C>A, NM_001033855.2:c.780+1delG, NM_001033855.2:c.1639G>T, NM_001033855.2:c.1903_1904insA, NM_001033855.2:c.457G>A, NM_001033855.2:c.1559_1560insA |
| DDB2 | Xeroderma pigmentosum complementation group E | NM_000107.2 | NM_000107.2:c.730A>G, NM_000107.2:c.937C>T, NM_000107.2:c.818G>A, NM_000107.2:c.919G>T |
| DDC | Aromatic L-amino acid decarboxylase deficiency | NM_000790.3 | NM_000790.3:c.100delG, NM_000790.3:c.1040G>A, NM_000790.3:c.823G>A, NM_000790.3:c.304G>A, NM_000790.3:c.272C>T, NM_000790.3:c.749C>T |
| DFNB31 | Deafness type 31, autosomal recessive | NM_015404.3 | NM_015404.3:c.1135C>T, NM_015404.3:c.817C>T |
| DFNB59 | Deafness type 59, autosomal recessive | NM_001042702.3 | NM_001042702.3:c.122delA, NM_001042702.3:c.420delT, NM_001042702.3:c.113dupT, NM_001042702.3:c.988delG, NM_001042702.3:c.726delT, NM_001042702.3:c.161C>T, NM_001042702.3:c.817_818insT |
| DGUOK | Mitochondrial DNA depletion syndrome type 3 | NM_080916.2 | NM_080916.2:c.137A>G, NM_080916.2:c.707+2T>G, NM_080916.2:c.763G>T, NM_080916.2:c.425G>A, NM_080916.2:c.313C>T, NM_080916.2:c.494A>T |
| DHCR7 | Smith-Lemli-Opitz syndrome | NM_001360.2 | NM_001360.2:c.1055G>A, NM_001360.2:c.1210C>T, NM_001360.2:c.1054C>T, NM_001360.2:c.461C>G, NM_001360.2:c.151C>T, NM_001360.2:c.1031G>A, NM_001360.2:c.453G>A, NM_001360.2:c.506C>T, NM_001360.2:c.356A>T, NM_001360.2:c.1228G>A, NM_001360.2:c.1A>G, NM_001360.2:c.976G>T, NM_001360.2:c.964-1G>C, NM_001360.2:c.682C>T, NM_001360.2:c.452G>A, NM_001360.2:c.1337G>A, NM_001360.2:c.1342G>A, NM_001360.2:c.730G>A, NM_001360.2:c.292C>T, NM_001360.2:c.904T>C, NM_001360.2:c.907G>A, NM_001360.2:c.841G>A, NM_001360.2:c.744G>T, NM_001360.2:c.724C>T, NM_001360.2:c.725G>A, NM_001360.2:c.866C>T, NM_001360.2:c.278C>T, NM_001360.2:c.839A>G, NM_001360.2:c.832-1G>C |
| DHDDS | Retinitis pigmentosa type 59 | NM_024887.3 | NM_024887.3:c.328delA, NM_024887.3:c.998C>G, NM_024887.3:c.124A>G |
| DKC1 | Dyskeratosis congenita, X-linked | NM_001363.4 | NM_001363.4:c.91C>A, NM_001363.4:c.214_215delCTinsTA, NM_001363.4:c.194G>C, NM_001363.4:c.838A>C, NM_001363.4:c.91C>G, NM_001363.4:c.196A>G |
| DKC1 | Hoyeraal-Hreidarsson syndrome | NM_001363.4 | NM_001363.4:c.200C>T, NM_001363.4:c.204C>A |
| DLD | Dihydrolipoamide dehydrogenase deficiency E3 | NM_000108.4 | NM_000108.4:c.916_926delTGTGATGTACT, NM_000108.4:c.105_106insA, NM_000108.4:c.1483A>G |
| DLL3 | Spondylocostal dysostosis type 1 | NM_016941.3 | NM_016941.3:c.231C>A, NM_016941.3:c.712C>T |
| DMD | Becker muscular dystrophy | NM_004006.2 | NM_004006.2:c.3432+3A>G, NM_004006.2:c.3432+1G>A, NM_004006.2:c.137A>T |
| DMD | Becker muscular dystrophy | - | insBecker, delBecker (Detection by MLPA) |
| DMD | Dilated cardiomyopathy type 3B | NM_004006.2 | NM_004006.2:c.5922+3G>C |
| DMD | Duchenne muscular dystrophy | NM_004006.2 | NM_004006.2:c.1261C>T, NM_004006.2:c.1286C>A, NM_004006.2:c.1070delC, NM_004006.2:c.10086+1G>A, NM_004006.2:c.1886C>A, NM_004006.2:c.1900A>T, NM_004006.2:c.10774delA, NM_004006.2:c.204dupC, NM_004006.2:c.1900_1903dupAAGT, NM_004006.2:c.10141C>T, NM_004006.2:c.10033C>T, NM_004006.2:c.10453_10454delCT, NM_004006.2:c.1012G>T, NM_004006.2:c.1048G>T, NM_004006.2:c.2302C>T, NM_004006.2:c.1734delA, NM_004006.2:c.2380+1G>C, NM_004006.2:c.2380+2T>C, NM_004006.2:c.2479delG, NM_004006.2:c.2482T>G, NM_004006.2:c.2484T>G, NM_004006.2:c.251delT, NM_004006.2:c.2523delA, NM_004006.2:c.10446_10447delCT, NM_004006.2:c.2650C>T, NM_004006.2:c.10454delT, NM_004006.2:c.2294_2297delCCAT, NM_004006.2:c.2803+1G>A, NM_004006.2:c.2803+1G>T, NM_004006.2:c.2804-1G>A, NM_004006.2:c.2804-2A>T, NM_004006.2:c.2815_2816delTT, NM_004006.2:c.1306dupG, NM_004006.2:c.1332-9A>G, NM_004006.2:c.133C>T, NM_004006.2:c.1341_1342dupAG, NM_004006.2:c.2547delT, NM_004006.2:c.1371delG, NM_004006.2:c.2755A>T, NM_004006.2:c.2758C>T, NM_004006.2:c.1529_1530delTC, NM_004006.2:c.160_162delCTC, NM_004006.2:c.3295C>T, NM_004006.2:c.6182delC, NM_004006.2:c.6226G>T, NM_004006.2:c.3639dupA, NM_004006.2:c.199G>T, NM_004006.2:c.3747delG, NM_004006.2:c.2125delC, NM_004006.2:c.137_138dupAT, NM_004006.2:c.4117C>T, NM_004006.2:c.412_413delAA, NM_004006.2:c.2281_2285delGAAAA, NM_004006.2:c.4375C>T, NM_004006.2:c.4405C>T, NM_004006.2:c.2332C>T, NM_004006.2:c.4471_4472delAA, NM_004006.2:c.4486delG, NM_004006.2:c.4500delA, NM_004006.2:c.4518+5G>A, NM_004006.2:c.4735G>T, NM_004006.2:c.4806A>T, NM_004006.2:c.4843A>T, NM_004006.2:c.489G>A, NM_004006.2:c.5287C>T, NM_004006.2:c.530+1delG, NM_004006.2:c.5313dupT, NM_004006.2:c.5353C>T, NM_004006.2:c.5363C>G, NM_004006.2:c.5530C>T, NM_004006.2:c.5554C>T, NM_004006.2:c.5570_5571dupAA, NM_004006.2:c.5640T>A, NM_004006.2:c.5671A>T, NM_004006.2:c.5697delA, NM_004006.2:c.5773G>T, NM_004006.2:c.5807T>A, NM_004006.2:c.583C>T, NM_004006.2:c.8944C>T, NM_004006.2:c.1489C>T, NM_004006.2:c.6000T>A, NM_004006.2:c.6014_6017delCTCA, NM_004006.2:c.615T>A, NM_004006.2:c.9346C>T, NM_004006.2:c.9361+1G>A, NM_004006.2:c.6238delC, NM_004006.2:c.3697delC, NM_004006.2:c.6292C>T, NM_004006.2:c.3779_3785delCTTTGGAinsGG, NM_004006.2:c.4071G>C, NM_004006.2:c.6391_6392delCA, NM_004006.2:c.6392_6393insCA, NM_004006.2:c.433C>T, NM_004006.2:c.676_678delAAG, NM_004006.2:c.6834delT, NM_004006.2:c.4409_4412dupGTCT, NM_004006.2:c.6936delA, NM_004006.2:c.6943G>T, NM_004006.2:c.6964delG, NM_004006.2:c.6982A>T, NM_004006.2:c.6986dupA, NM_004006.2:c.7682G>A, NM_004006.2:c.7683G>A, NM_004006.2:c.7764dupT, NM_004006.2:c.7771G>T, NM_004006.2:c.7894C>T, NM_004006.2:c.7922delA, NM_004006.2:c.8064_8065delTA, NM_004006.2:c.8069T>G, NM_004006.2:c.8086delC, NM_004006.2:c.8358G>A, NM_004006.2:c.8374_8375delAA, NM_004006.2:c.8443C>T, NM_004006.2:c.8464C>T, NM_004006.2:c.8608C>T, NM_004006.2:c.8652_8653delCT, NM_004006.2:c.8656C>T, NM_004006.2:c.8668G>A, NM_004006.2:c.8713C>T, NM_004006.2:c.3121C>T, NM_004006.2:c.9164-1G>C, NM_004006.2:c.9164-1G>T, NM_004006.2:c.9337C>T, NM_004006.2:c.6906G>A, NM_004006.2:c.9361+1G>C, NM_004006.2:c.9380C>G, NM_004006.2:c.9564-1G>A, NM_004006.2:c.9568C>T, NM_004006.2:c.9612_9613ins341, NM_004006.2:c.9650-2A>G, NM_004006.2:c.9767dupG, NM_004006.2:c.9851G>A, NM_004006.2:c.9854_9863delTGAGACTGGA, NM_004006.2:c.9862G>T, NM_004006.2:c.3276+1G>A, NM_004006.2:c.2866C>T, NM_004006.2:c.2929dupC, NM_004006.2:c.3022A>T, NM_004006.2:c.2816T>A, NM_004006.2:c.3087G>A, NM_004006.2:c.5899C>T, NM_004006.2:c.3124A>T, NM_004006.2:c.3076G>T, NM_004006.2:c.6373C>T, NM_004006.2:c.627delA, NM_004006.2:c.2137C>T, NM_004006.2:c.3246_3247insTTTCTAAAAA, NM_004006.2:c.220delC, NM_004006.2:c.2169-3_2169-1delinsAA, NM_004006.2:c.6340A>T, NM_004006.2:c.6763-2A>G |
| DMD | Duchenne muscular dystrophy | - | insDuchenne, delDuchenne (Detection by MLPA) |
| DMP1 | Hypophosphatemic rickets type 1, autosomal recessive | NM_004407.3 | NM_004407.3:c.1A>G, NM_004407.3:c.55-1G>C, NM_004407.3:c.31delT, NM_004407.3:c.362delC |
| DNAJC19 | Dilated cardiomyopathy with ataxia | NM_145261.3 | NM_145261.3:c.300delA |
| DPAGT1 | Congenital disorder of glycosylation type 1j | NM_001382.3 | NM_001382.3:c.791T>G, NM_001382.3:c.358C>A, NM_001382.3:c.643+1G>A, NM_001382.3:c.902G>A, NM_001382.3:c.349G>A, NM_001382.3:c.980_981delCT |
| DPM1 | Congenital disorders of glycosylation type 1e | NM_003859.1 | NM_003859.1:c.564-1G>A, NM_003859.1:c.628delC, NM_003859.1:c.274C>G, NM_003859.1:c.679-1G>T, NM_003859.1:c.742T>C |
| DPYD | Dihydropyrimidine dehydrogenase deficiency | NM_000110.3 | NM_000110.3:c.775A>G, NM_000110.3:c.1679T>G, NM_000110.3:c.299_302delTCAT, NM_000110.3:c.703C>T, NM_000110.3:c.1109_1110delTA, NM_000110.3:c.1905+1G>A, NM_000110.3:c.257C>T |
| DSP | Cardiomyopathy, arrhythmogenic | NM_004415.2 | NM_004415.2:c.7000C>T, NM_004415.2:c.88G>A, NM_004415.2:c.6370_6371delCT, NM_004415.2:c.7180_7181delAG, NM_004415.2:c.643G>A, NM_004415.2:c.3098delA, NM_004415.2:c.8188C>T |
| DSP | Cardiomyopathy, dilated, with woolly hair and keratoderma | NM_004415.2 | NM_004415.2:c.5513G>A |
| DSP | Lethal acantholytic epidermolysis bullosa | NM_004415.2 | NM_004415.2:c.5800C>T |
| DYSF | Dysferlinopathy | NM_003494.3 | NM_003494.3:c.1398-2A>G, NM_003494.3:c.1392dupA, NM_003494.3:c.1398-1G>A, NM_003494.3:c.5266C>T, NM_003494.3:c.1620delA, NM_003494.3:c.1481-1G>A, NM_003494.3:c.3041A>G, NM_003494.3:c.3985C>G, NM_003494.3:c.4090C>T, NM_003494.3:c.5713C>T, NM_003494.3:c.1053+1G>A, NM_003494.3:c.200_201delTGinsAT, NM_003494.3:c.2869C>T, NM_003494.3:c.2870_2874delAGACC, NM_003494.3:c.458-390C>T, NM_003494.3:c.757C>T, NM_003494.3:c.3065G>A, NM_003494.3:c.393_394delCC, NM_003494.3:c.3859A>T, NM_003494.3:c.5429G>A, NM_003494.3:c.3130C>T, NM_003494.3:c.3444_3445delTGinsAA, NM_003494.3:c.1638+2T>A, NM_003494.3:c.4108_4109delGT, NM_003494.3:c.3641delC, NM_003494.3:c.1368C>A, NM_003494.3:c.4872_4876delGCCCGinsCCCC, NM_003494.3:c.5341-2A>C, NM_003494.3:c.509C>A, NM_003494.3:c.5836_5839delCAGC, NM_003494.3:c.5644C>T, NM_003494.3:c.1861G>C, NM_003494.3:c.5429+1G>T, NM_003494.3:c.3957delC, NM_003494.3:c.5998C>T, NM_003494.3:c.3724C>T, NM_003494.3:c.5525+1G>A, NM_003494.3:c.3477C>A, NM_003494.3:c.3708delA, NM_003494.3:c.5992G>T, NM_003494.3:c.3113G>C, NM_003494.3:c.1216T>C, NM_003494.3:c.3903delG |
| DYSF | Miyoshi myopathy | NM_003494.3 | NM_003494.3:c.1555G>A, NM_003494.3:c.5509G>A, NM_003494.3:c.5077C>T, NM_003494.3:c.5698_5699delAG, NM_003494.3:c.3892A>G, NM_003494.3:c.286A>C, NM_003494.3:c.1120G>C, NM_003494.3:c.1284+2T>C, NM_003494.3:c.5497G>T, NM_003494.3:c.3478C>T, NM_003494.3:c.2997G>T, NM_003494.3:c.3121C>T, NM_003494.3:c.1813C>T, NM_003494.3:c.3181_3182insAGGCGG, NM_003494.3:c.937+1G>A, NM_003494.3:c.3158T>G, NM_003494.3:c.1276G>A, NM_003494.3:c.701G>A, NM_003494.3:c.610C>T, NM_003494.3:c.5594delG, NM_003494.3:c.3112C>T, NM_003494.3:c.4199C>A, NM_003494.3:c.5999G>A, NM_003494.3:c.4756C>T, NM_003494.3:c.6124C>T, NM_003494.3:c.2966C>T, NM_003494.3:c.663+1G>C, NM_003494.3:c.3175-2A>T, NM_003494.3:c.895G>T, NM_003494.3:c.4985C>T, NM_003494.3:c.6203C>T |
| DYSF | Muscular dystrophy, limb girdle type 2B | NM_003494.3 | NM_003494.3:c.5979dupA, NM_003494.3:c.565C>G, NM_003494.3:c.1663C>T, NM_003494.3:c.1873G>T, NM_003494.3:c.1834C>T, NM_003494.3:c.5201A>G, NM_003494.3:c.895G>A, NM_003494.3:c.3805G>T, NM_003494.3:c.4003G>A, NM_003494.3:c.4253G>A |
| EDA | Hypohidrotic ectodermal dysplasia, X-linked | NM_001399.4 | NM_001399.4:c.206G>T, NM_001399.4:c.463C>T, NM_001399.4:c.187G>A, NM_001399.4:c.573_574insT, NM_001399.4:c.466C>T, NM_001399.4:c.826C>T, NM_001399.4:c.183C>G, NM_001399.4:c.181T>C, NM_001399.4:c.467G>A, NM_001399.4:c.671G>C, NM_001399.4:c.1045G>A |
| EDN3 | Shah-Waardenburg syndrome type 4B | NM_207034.1 | NM_207034.1:c.277C>G, NM_207034.1:c.568_569delGA, NM_207034.1:c.262_263delGCinsT, NM_207034.1:c.559_560insA, NM_207034.1:c.565_566insA, NM_207034.1:c.476G>T |
| EDNRB | Shah-Waardenburg syndrome type 4A | NM_000115.3 | NM_000115.3:c.914C>A, NM_000115.3:c.548C>G, NM_000115.3:c.828G>T, NM_000115.3:c.-51-946delC |
| EGR2 | Charcot-Marie-Tooth disease type 4E | NM_000399.3 | NM_000399.3:c.803T>A |
| EIF2AK3 | Wolcott-Rallison syndrome | NM_004836.5 | NM_004836.5:c.994G>T, NM_004836.5:c.1763G>A |
| EMD | Emery-Dreifuss muscular dystrophy type 1, X-linked | NM_000117.2 | NM_000117.2:c.547C>A, NM_000117.2:c.631_635delCGTGC |
| ENO3 | Glycogen storage disease type 13 | NM_053013.3 | NM_053013.3:c.667+1G>T, NM_053013.3:c.1121G>A, NM_053013.3:c.953delA, NM_053013.3:c.692_707dupTCCAGGCGGCTGGTTA, NM_053013.3:c.467G>A, NM_053013.3:c.1303T>C |
| ENPP1 | Generalized arterial calcification of infancy and pseudoxanthoma elasticum | NM_006208.2 | NM_006208.2:c.1612G>C |
| ENPP1 | Hypophosphatemic rickets type 2, Autosomal recessive | NM_006208.2 | NM_006208.2:c.797G>T, NM_006208.2:c.2702A>C |
| ENPP1 | Idiopathic infantile arterial calcification | NM_006208.2 | NM_006208.2:c.1112A>T, NM_006208.2:c.1025G>T, NM_006208.2:c.783C>G, NM_006208.2:c.2677G>T, NM_006208.2:c.913C>A, NM_006208.2:c.2230C>T, NM_006208.2:c.900G>A |
| ERCC2 | Trichothiodystrophy | NM_000400.3 | NM_000400.3:c.1972C>T |
| ERCC2 | Xeroderma pigmentosum complementation group D | NM_000400.3 | NM_000400.3:c.1308-1G>A, NM_000400.3:c.1454T>C, NM_000400.3:c.1621A>C, NM_000400.3:c.1703_1704delTT, NM_000400.3:c.1381C>G, NM_000400.3:c.719-1G>A, NM_000400.3:c.2230_2233dupCTAG, NM_000400.3:c.183+2T>A, NM_000400.3:c.567G>A, NM_000400.3:c.1354C>T, NM_000400.3:c.2047C>T, NM_000400.3:c.1304T>G, NM_000400.3:c.2176C>T, NM_000400.3:c.950-2A>G, NM_000400.3:c.949+1G>A |
| ERCC3 | Xeroderma pigmentosum complementation group B | NM_000122.1 | NM_000122.1:c.1633C>T, NM_000122.1:c.1757_1758delAG, NM_000122.1:c.296T>C, NM_000122.1:c.1273C>T, NM_000122.1:c.1757delA, NM_000122.1:c.1858delG |
| ERCC4 | Xeroderma pigmentosum complementation group F | NM_005236.2 | NM_005236.2:c.49G>T, NM_005236.2:c.1467_1468insA, NM_005236.2:c.2281_2284delTTTG, NM_005236.2:c.2T>C, NM_005236.2:c.538_539delAG, NM_005236.2:c.706T>C, NM_005236.2:c.2395C>T |
| ERCC5 | Xeroderma pigmentosum complementation group G | NM_000123.3 | NM_000123.3:c.2620G>A, NM_000123.3:c.463_464insA, NM_000123.3:c.526C>T, NM_000123.3:c.88+2T>C, NM_000123.3:c.2144dupA, NM_000123.3:c.2375C>T, NM_000123.3:c.381-2A>G, NM_000123.3:c.2573T>C, NM_000123.3:c.406C>T, NM_000123.3:c.215C>A, NM_000123.3:c.787C>T, NM_000123.3:c.2751delA |
| ERCC6 | Cerebrooculofacioskeletal syndrome tipo 1 | NM_000124.3 | NM_000124.3:c.2047C>T |
| ERCC6 | Cockayne syndrome type B | NM_000124.3 | NM_000124.3:c.207_208insG, NM_000124.3:c.2203C>T, NM_000124.3:c.1357C>T, NM_000124.3:c.48_49delCT, NM_000124.3:c.3592_3593insGA, NM_000124.3:c.422+1G>A, NM_000124.3:c.1550G>A, NM_000124.3:c.3284C>G, NM_000124.3:c.2587C>T, NM_000124.3:c.3862C>T |
| ERCC8 | Cockayne syndrome type A | NM_000082.3 | NM_000082.3:c.1103_1108delAGTTinsTTATATGAACCTTATATGAA, NM_000082.3:c.618-1G>A, NM_000082.3:c.593_594dupAT, NM_000082.3:c.613G>C, NM_000082.3:c.966C>A, NM_000082.3:c.37G>T |
| ESCO2 | Roberts syndrome | NM_001017420.2 | NM_001017420.2:c.1615T>G, NM_001017420.2:c.879_880delAG, NM_001017420.2:c.1597dupT, NM_001017420.2:c.505C>T, NM_001017420.2:c.291_292insGA, NM_001017420.2:c.308_309delAA, NM_001017420.2:c.876_879delCAGA, NM_001017420.2:c.874_877delGACA |
| ESCO2 | SC Phocomelia syndrome | NM_001017420.2 | NM_001017420.2:c.1269G>A, NM_001017420.2:c.604C>T |
| ESPN | Deafness type 36, autosomal recessive | NM_031475.2 | NM_031475.2:c.1988_1991delAGAG, NM_031475.2:c.2230G>A, NM_031475.2:c.2470_2473delTCAG |
| ESRRB | Deafness type 35, autosomal recessive | NM_004452.3 | NM_004452.3:c.329C>T |
| ETFA | Glutaric acidemia type 2A | NM_000126.3 | NM_000126.3:c.470T>G, NM_000126.3:c.797C>T |
| ETFB | Glutaric acidemia type 2B | NM_001985.2 | NM_001985.2:c.278_279insG, NM_001985.2:c.490C>T, NM_001985.2:c.491G>A, NM_001985.2:c.382G>A, NM_001985.2:c.58-53_58-52insG, NM_001985.2:c.61C>T, NM_001985.2:c.614_616delAGA |
| ETFDH | Glutaric acidemia type 2C | NM_004453.3 | NM_004453.3:c.1823delG, NM_004453.3:c.1570_1571delCT, NM_004453.3:c.2T>C, NM_004453.3:c.1234G>T, NM_004453.3:c.250G>A, NM_004453.3:c.1351G>C, NM_004453.3:c.1367C>T, NM_004453.3:c.524G>T, NM_004453.3:c.1001T>C, NM_004453.3:c.1773_1774delAT, NM_004453.3:c.1832G>A, NM_004453.3:c.508G>T, NM_004453.3:c.413T>G, NM_004453.3:c.643G>A |
| ETHE1 | Ethylmalonic encephalopathy | NM_014297.3 | NM_014297.3:c.487C>T, NM_014297.3:c.554T>G, NM_014297.3:c.440_450delACAGCATGGCC, NM_014297.3:c.604dupG, NM_014297.3:c.221dupA, NM_014297.3:c.488G>A |
| EYS | Retinitis pigmentosa type 25 | NM_001142800.1 | NM_001142800.1:c.5044G>T, NM_001142800.1:c.9036delT, NM_001142800.1:c.490C>T, NM_001142800.1:c.5928-2A>G, NM_001142800.1:c.571dupA, NM_001142800.1:c.4597_4613delTCAAGCAACCAGAGACT, NM_001142800.1:c.7822C>T, NM_001142800.1:c.5857G>T, NM_001142800.1:c.6170delA, NM_001142800.1:c.8569G>T, NM_001142800.1:c.232delT, NM_001142800.1:c.6102_6103insT, NM_001142800.1:c.8834G>A, NM_001142800.1:c.1211_1212insA, NM_001142800.1:c.4350_4356delTATAGCT, NM_001142800.1:c.4469_4470insAGCCCCTC, NM_001142800.1:c.8648_8655delCATGCAGA, NM_001142800.1:c.4120C>T, NM_001142800.1:c.863-4_863-3insT, NM_001142800.1:c.8629_8632dupACAG, NM_001142800.1:c.9299_9302delCTCA, NM_001142800.1:c.103C>T, NM_001142800.1:c.2826_2827delAT, NM_001142800.1:c.4045C>T, NM_001142800.1:c.5757_5758insT, NM_001142800.1:c.8408dupA, NM_001142800.1:c.7095T>G, NM_001142800.1:c.3329C>G, NM_001142800.1:c.9405T>A |
| F11 | Factor 11 deficiency | NM_000128.3 | NM_000128.3:c.1613C>T, NM_000128.3:c.166T>C, NM_000128.3:c.403G>T, NM_000128.3:c.731A>G, NM_000128.3:c.809A>T, NM_000128.3:c.1693G>A, NM_000128.3:c.1211C>A, NM_000128.3:c.901T>C, NM_000128.3:c.595+3A>G, NM_000128.3:c.438C>A |
| F5 | Factor 5 deficiency | NM_000130.4 | NM_000130.4:c.4876delA, NM_000130.4:c.439G>T, NM_000130.4:c.6419G>A, NM_000130.4:c.2401C>T, NM_000130.4:c.5521G>A, NM_000130.4:c.1083G>A, NM_000130.4:c.5189A>G, NM_000130.4:c.3799delC, NM_000130.4:c.6304C>T |
| F5 | Thrombosis | NM_000130.4 | NM_000130.4:c.1000A>G |
| F8 | Hemophilia A | NM_000132.3 | NM_000132.3:c.1075_1078delAATG, NM_000132.3:c.1042T>C, NM_000132.3:c.1078_1079delGA, NM_000132.3:c.120delC, NM_000132.3:c.1214T>G, NM_000132.3:c.1090G>A, NM_000132.3:c.1207C>G, NM_000132.3:c.1331_1332delAAinsT, NM_000132.3:c.1175C>A, NM_000132.3:c.1335dupC, NM_000132.3:c.1203G>A, NM_000132.3:c.128dupT, NM_000132.3:c.1331A>C, NM_000132.3:c.1301G>A, NM_000132.3:c.1234T>C, NM_000132.3:c.1316G>A, NM_000132.3:c.1293delG, NM_000132.3:c.1200_1201delTT, NM_000132.3:c.1310delG, NM_000132.3:c.1331_1332delAA, NM_000132.3:c.1410_1413delTTTA, NM_000132.3:c.1420G>T, NM_000132.3:c.143+1G>A, NM_000132.3:c.1432G>A, NM_000132.3:c.1438_1439delCT, NM_000132.3:c.1440_1441insA, NM_000132.3:c.144-11T>G, NM_000132.3:c.1442_1443dupTG, NM_000132.3:c.1175C>G, NM_000132.3:c.1324T>A, NM_000132.3:c.1324T>C, NM_000132.3:c.1325A>G, NM_000132.3:c.144-5C>G, NM_000132.3:c.1463C>G, NM_000132.3:c.1463C>T, NM_000132.3:c.1467_1472dupCAGACC, NM_000132.3:c.1477A>G, NM_000132.3:c.1538-1G>T, NM_000132.3:c.1538-2A>T, NM_000132.3:c.1560delT, NM_000132.3:c.1564_1565delATinsTA, NM_000132.3:c.1585A>G, NM_000132.3:c.1594T>G, NM_000132.3:c.1189_1190insC, NM_000132.3:c.1443+3A>C, NM_000132.3:c.1596G>A, NM_000132.3:c.1618C>A, NM_000132.3:c.1619C>G, NM_000132.3:c.1630G>A, NM_000132.3:c.1639T>C, NM_000132.3:c.1337G>A, NM_000132.3:c.1337G>C, NM_000132.3:c.1338delA, NM_000132.3:c.1348T>G, NM_000132.3:c.1357G>T, NM_000132.3:c.1390G>T, NM_000132.3:c.1595G>A, NM_000132.3:c.1596dupG, NM_000132.3:c.1400T>G, NM_000132.3:c.1406G>C, NM_000132.3:c.1736A>T, NM_000132.3:c.173delC, NM_000132.3:c.1752+5G>C, NM_000132.3:c.185C>G, NM_000132.3:c.1904-1G>A, NM_000132.3:c.1904-37G>A, NM_000132.3:c.1912G>A, NM_000132.3:c.1913G>A, NM_000132.3:c.1924_1927delGATA, NM_000132.3:c.1934A>C, NM_000132.3:c.1941_1944delAGTT, NM_000132.3:c.1943_1946delTTTG, NM_000132.3:c.1952A>C, NM_000132.3:c.195C>A, NM_000132.3:c.1985G>C, NM_000132.3:c.1988C>T, NM_000132.3:c.1990_1991delCA, NM_000132.3:c.1991A>C, NM_000132.3:c.199_200delAA, NM_000132.3:c.1992_1995dupGACT, NM_000132.3:c.1996_1999delGACT, NM_000132.3:c.1999delT, NM_000132.3:c.199A>G, NM_000132.3:c.1A>G, NM_000132.3:c.2009_2011delTCT, NM_000132.3:c.200A>C, NM_000132.3:c.201G>T, NM_000132.3:c.202_203insGA, NM_000132.3:c.202_207delACTCTG, NM_000132.3:c.2029T>C, NM_000132.3:c.2032A>T, NM_000132.3:c.203C>A, NM_000132.3:c.2057C>G, NM_000132.3:c.2058_2059delAC, NM_000132.3:c.2060T>C, NM_000132.3:c.2066T>G, NM_000132.3:c.1394C>G, NM_000132.3:c.1397G>A, NM_000132.3:c.2077_2078delTCinsCT, NM_000132.3:c.2088_2089delTG, NM_000132.3:c.2090T>A, NM_000132.3:c.2095A>C, NM_000132.3:c.2095A>G, NM_000132.3:c.2095A>T, NM_000132.3:c.1086G>A, NM_000132.3:c.2097G>A, NM_000132.3:c.1164delC, NM_000132.3:c.1172G>C, NM_000132.3:c.214G>A, NM_000132.3:c.217T>C, NM_000132.3:c.1187A>T, NM_000132.3:c.224delA, NM_000132.3:c.225T>A, NM_000132.3:c.1202G>A, NM_000132.3:c.2338delA, NM_000132.3:c.2360delA, NM_000132.3:c.2372dupG, NM_000132.3:c.2374delT, NM_000132.3:c.2383A>G, NM_000132.3:c.2384_2388delGAACA, NM_000132.3:c.2397delT, NM_000132.3:c.2404C>T, NM_000132.3:c.2409delT, NM_000132.3:c.2412_2421delCTCCTCTAGT, NM_000132.3:c.2419dupA, NM_000132.3:c.2462_2463delGG, NM_000132.3:c.250_255delAGGCCA, NM_000132.3:c.250A>G, NM_000132.3:c.253_255delCCA, NM_000132.3:c.265+1G>T, NM_000132.3:c.265G>A, NM_000132.3:c.3031A>T, NM_000132.3:c.3034G>C, NM_000132.3:c.3053delA, NM_000132.3:c.3150_3151insTC, NM_000132.3:c.3152delT, NM_000132.3:c.3168_3187delTGAGTTTAAAAAAGTGACAC, NM_000132.3:c.3196C>T, NM_000132.3:c.3202_3203delAG, NM_000132.3:c.3224delC, NM_000132.3:c.3251C>G, NM_000132.3:c.3255_3258delTAAA, NM_000132.3:c.3279G>A, NM_000132.3:c.3289C>T, NM_000132.3:c.3295delA, NM_000132.3:c.3298A>T, NM_000132.3:c.3302_3303delAG, NM_000132.3:c.3344delT, NM_000132.3:c.3371C>A, NM_000132.3:c.144-26A>T, NM_000132.3:c.1443+1G>A, NM_000132.3:c.1443+2T>C, NM_000132.3:c.3409_3410delCT, NM_000132.3:c.3416_3417delCT, NM_000132.3:c.3417dupT, NM_000132.3:c.3421C>T, NM_000132.3:c.3490delT, NM_000132.3:c.3493G>T, NM_000132.3:c.3496A>T, NM_000132.3:c.3500dupA, NM_000132.3:c.3505delG, NM_000132.3:c.3540delA, NM_000132.3:c.3548_3549delAA, NM_000132.3:c.3565dupA, NM_000132.3:c.3607G>T, NM_000132.3:c.3624delT, NM_000132.3:c.3631A>T, NM_000132.3:c.3651delA, NM_000132.3:c.3652delG, NM_000132.3:c.3710delC, NM_000132.3:c.3721_3739del19ins6, NM_000132.3:c.3735_3744delCCTTTTCTTAinsATTTCTTTTTCTTT, NM_000132.3:c.3736delC, NM_000132.3:c.3756delG, NM_000132.3:c.3766G>T, NM_000132.3:c.3771delT, NM_000132.3:c.3827C>G, NM_000132.3:c.3830delC, NM_000132.3:c.3833delA, NM_000132.3:c.3842_3844delAGAinsGG, NM_000132.3:c.3844A>T, NM_000132.3:c.3847_3848delCA, NM_000132.3:c.3858delT, NM_000132.3:c.3860delT, NM_000132.3:c.3863dupC, NM_000132.3:c.3870dupA, NM_000132.3:c.3886delT, NM_000132.3:c.3902delA, NM_000132.3:c.3907_3911delACCAA, NM_000132.3:c.3913C>T, NM_000132.3:c.3922G>T, NM_000132.3:c.3940A>C, NM_000132.3:c.3964C>T, NM_000132.3:c.3967C>T, NM_000132.3:c.3982C>T, NM_000132.3:c.3984dupA, NM_000132.3:c.3991_3992delAA, NM_000132.3:c.3994_3997delAGAG, NM_000132.3:c.4006C>T, NM_000132.3:c.4034delA, NM_000132.3:c.403G>A, NM_000132.3:c.4045delA, NM_000132.3:c.404A>G, NM_000132.3:c.405T>A, NM_000132.3:c.4072C>T, NM_000132.3:c.407A>C, NM_000132.3:c.4093_4099delCATTTGA, NM_000132.3:c.4100delC, NM_000132.3:c.4113_4153dup41, NM_000132.3:c.4156C>T, NM_000132.3:c.415C>T, NM_000132.3:c.4197delC, NM_000132.3:c.4201C>T, NM_000132.3:c.421G>T, NM_000132.3:c.4241C>A, NM_000132.3:c.4242dupA, NM_000132.3:c.4264_4265delTA, NM_000132.3:c.2071C>A, NM_000132.3:c.2072C>T, NM_000132.3:c.4293_4297delCTCTT, NM_000132.3:c.4296_4300delTTCTC, NM_000132.3:c.430G>T, NM_000132.3:c.4318delT, NM_000132.3:c.4336delG, NM_000132.3:c.4339dupG, NM_000132.3:c.2096T>A, NM_000132.3:c.4345delG, NM_000132.3:c.209T>C, NM_000132.3:c.2101_2105delATGGA, NM_000132.3:c.4363C>T, NM_000132.3:c.4382_4383delAC, NM_000132.3:c.223G>T, NM_000132.3:c.4408G>T, NM_000132.3:c.440T>A, NM_000132.3:c.230T>C, NM_000132.3:c.4424_4425delAA, NM_000132.3:c.4426_4427delAG, NM_000132.3:c.4429_4430delGA, NM_000132.3:c.4446dupG, NM_000132.3:c.4450delA, NM_000132.3:c.4458delA, NM_000132.3:c.446delC, NM_000132.3:c.4473C>A, NM_000132.3:c.4473C>G, NM_000132.3:c.4474A>T, NM_000132.3:c.4483delG, NM_000132.3:c.4483G>T, NM_000132.3:c.4491_4492delTG, NM_000132.3:c.4491_4495delTGTTC, NM_000132.3:c.4492_4496delGTTCT, NM_000132.3:c.4492delG, NM_000132.3:c.4512_4513ins32, NM_000132.3:c.4512delG, NM_000132.3:c.4513_4515delCCCinsGCAAAGTTGGTTTGCCAAAACCATGTTGCCG, NM_000132.3:c.4519delA, NM_000132.3:c.4531G>A, NM_000132.3:c.4542delT, NM_000132.3:c.4543_4544delCCinsA, NM_000132.3:c.4549_4550delGT, NM_000132.3:c.4561C>T, NM_000132.3:c.4619delT, NM_000132.3:c.4658delA, NM_000132.3:c.4662_4663delGA, NM_000132.3:c.4665_4688del24insAAGGAA, NM_000132.3:c.4672_4675delAACA, NM_000132.3:c.4683delA, NM_000132.3:c.4687delG, NM_000132.3:c.4694_4697delTTCT, NM_000132.3:c.4697_4701dupTGAGA, NM_000132.3:c.4710_4713delAGAA, NM_000132.3:c.3385delC, NM_000132.3:c.3388delA, NM_000132.3:c.3402delG, NM_000132.3:c.472C>T, NM_000132.3:c.476T>C, NM_000132.3:c.4770T>A, NM_000132.3:c.4794G>T, NM_000132.3:c.4798A>T, NM_000132.3:c.4805_4806delAA, NM_000132.3:c.4805delA, NM_000132.3:c.4814C>A, NM_000132.3:c.4825delA, NM_000132.3:c.4828G>T, NM_000132.3:c.4841delA, NM_000132.3:c.4848delC, NM_000132.3:c.4856delC, NM_000132.3:c.4858delC, NM_000132.3:c.4864G>A, NM_000132.3:c.4895delT, NM_000132.3:c.4895dupT, NM_000132.3:c.4899delT, NM_000132.3:c.489T>A, NM_000132.3:c.4918G>T, NM_000132.3:c.4922dupT, NM_000132.3:c.4925A>G, NM_000132.3:c.4926delA, NM_000132.3:c.4934G>A, NM_000132.3:c.4935G>A, NM_000132.3:c.493C>T, NM_000132.3:c.4942C>T, NM_000132.3:c.4969C>T, NM_000132.3:c.4979C>T, NM_000132.3:c.4987A>T, NM_000132.3:c.4996C>T, NM_000132.3:c.4999delC, NM_000132.3:c.5010delT, NM_000132.3:c.5012G>A, NM_000132.3:c.514_515insTCAAGATA, NM_000132.3:c.514T>C, NM_000132.3:c.515G>A, NM_000132.3:c.519_523delTACCT, NM_000132.3:c.5220-1G>A, NM_000132.3:c.5226_5227delGA, NM_000132.3:c.5243delA, NM_000132.3:c.5251A>T, NM_000132.3:c.5254delG, NM_000132.3:c.525C>A, NM_000132.3:c.5269delT, NM_000132.3:c.5269T>C, NM_000132.3:c.5291A>G, NM_000132.3:c.5301C>A, NM_000132.3:c.5308G>A, NM_000132.3:c.5321A>T, NM_000132.3:c.532C>G, NM_000132.3:c.5330T>C, NM_000132.3:c.5337delG, NM_000132.3:c.5339C>T, NM_000132.3:c.5343T>A, NM_000132.3:c.5345T>G, NM_000132.3:c.5348_5357delGAGCAGAAGT, NM_000132.3:c.535T>C, NM_000132.3:c.545A>T, NM_000132.3:c.553A>G, NM_000132.3:c.556G>A, NM_000132.3:c.557_559delACT, NM_000132.3:c.557A>G, NM_000132.3:c.560T>A, NM_000132.3:c.566C>A, NM_000132.3:c.5674G>A, NM_000132.3:c.5675dupT, NM_000132.3:c.5680G>A, NM_000132.3:c.5686G>C, NM_000132.3:c.5689_5690delCT, NM_000132.3:c.5696dupT, NM_000132.3:c.5697delC, NM_000132.3:c.5712G>C, NM_000132.3:c.5718dupA, NM_000132.3:c.5719A>T, NM_000132.3:c.571C>T, NM_000132.3:c.5721C>G, NM_000132.3:c.5722_5723delTGinsTCATCAAAGTACTTCAAAAA, NM_000132.3:c.5752delT, NM_000132.3:c.5766C>A, NM_000132.3:c.577G>A, NM_000132.3:c.5816-14delGTinsTA, NM_000132.3:c.5816C>A, NM_000132.3:c.5816C>T, NM_000132.3:c.5825G>T, NM_000132.3:c.5833A>G, NM_000132.3:c.5853A>C, NM_000132.3:c.5861_5866delCTCAGG, NM_000132.3:c.5869C>T, NM_000132.3:c.5879G>T, NM_000132.3:c.5881T>A, NM_000132.3:c.5884T>G, NM_000132.3:c.5888T>C, NM_000132.3:c.5891T>C, NM_000132.3:c.5894G>T, NM_000132.3:c.589_591delGTA, NM_000132.3:c.5914_5915delAT, NM_000132.3:c.5923dupA, NM_000132.3:c.5924T>A, NM_000132.3:c.5934T>G, NM_000132.3:c.5939A>C, NM_000132.3:c.5953delC, NM_000132.3:c.5954G>C, NM_000132.3:c.5955_5956delAA, NM_000132.3:c.5955delA, NM_000132.3:c.5964_5967dupGGAG, NM_000132.3:c.5999G>C, NM_000132.3:c.6016G>T, NM_000132.3:c.6037G>A, NM_000132.3:c.6046C>G, NM_000132.3:c.6070dupC, NM_000132.3:c.6078_6079delTG, NM_000132.3:c.6082delG, NM_000132.3:c.6089dupG, NM_000132.3:c.6094C>T, NM_000132.3:c.6099delT, NM_000132.3:c.6107A>G, NM_000132.3:c.6115+1G>A, NM_000132.3:c.6115+2T>C, NM_000132.3:c.6115+3G>T, NM_000132.3:c.6115+4A>G, NM_000132.3:c.6115+6T>A, NM_000132.3:c.6116-2A>G, NM_000132.3:c.6116_6117delAG, NM_000132.3:c.6120_6135delTCAGACTCCCCTGGGA, NM_000132.3:c.6120T>A, NM_000132.3:c.6127delC, NM_000132.3:c.6134G>T, NM_000132.3:c.6135dupA, NM_000132.3:c.6194G>A, NM_000132.3:c.6202_6257dup56, NM_000132.3:c.6213A>T, NM_000132.3:c.6239C>T, NM_000132.3:c.6242G>C, NM_000132.3:c.6243G>C, NM_000132.3:c.6250A>T, NM_000132.3:c.6253G>T, NM_000132.3:c.6263C>T, NM_000132.3:c.6269T>A, NM_000132.3:c.6273+1G>A, NM_000132.3:c.6430-3C>G, NM_000132.3:c.6449A>T, NM_000132.3:c.6464_6465delAA, NM_000132.3:c.6465delA, NM_000132.3:c.6467_6468delAC, NM_000132.3:c.6469_6470delAA, NM_000132.3:c.6473delT, NM_000132.3:c.6482C>A, NM_000132.3:c.6482C>T, NM_000132.3:c.6488T>G, NM_000132.3:c.6489delT, NM_000132.3:c.6494delC, NM_000132.3:c.6497delG, NM_000132.3:c.6501delC, NM_000132.3:c.6515C>G, NM_000132.3:c.6517_6519dupACT, NM_000132.3:c.6520C>G, NM_000132.3:c.6533G>A, NM_000132.3:c.6537C>G, NM_000132.3:c.6544C>G, NM_000132.3:c.6548T>G, NM_000132.3:c.6551A>T, NM_000132.3:c.6565_6566delGA, NM_000132.3:c.6574+1G>A, NM_000132.3:c.6574+1G>T, NM_000132.3:c.6574+3A>C, NM_000132.3:c.6574+5G>C, NM_000132.3:c.65G>C, NM_000132.3:c.6738delA, NM_000132.3:c.6739_6740delGA, NM_000132.3:c.6739G>T, NM_000132.3:c.6743G>C, NM_000132.3:c.6746T>G, NM_000132.3:c.6752T>A, NM_000132.3:c.6760C>T, NM_000132.3:c.6760delC, NM_000132.3:c.676A>T, NM_000132.3:c.6780_6788delAGGAGTAAC, NM_000132.3:c.6786_6787insCAA, NM_000132.3:c.6796G>A, NM_000132.3:c.6797delG, NM_000132.3:c.6797G>A, NM_000132.3:c.6804delA, NM_000132.3:c.680G>A, NM_000132.3:c.6825T>A, NM_000132.3:c.6827T>G, NM_000132.3:c.6836T>C, NM_000132.3:c.6836T>G, NM_000132.3:c.6839T>C, NM_000132.3:c.6842T>C, NM_000132.3:c.684_685delCT, NM_000132.3:c.6856_6866delGATGGCCATCA, NM_000132.3:c.6865C>T, NM_000132.3:c.6869G>T, NM_000132.3:c.6870G>A, NM_000132.3:c.687_688delAG, NM_000132.3:c.6886delA, NM_000132.3:c.6900+1G>A, NM_000132.3:c.6901-2A>G, NM_000132.3:c.6904T>G, NM_000132.3:c.6905T>C, NM_000132.3:c.6912_6916delAAATC, NM_000132.3:c.6915delT, NM_000132.3:c.6919_6920delGA, NM_000132.3:c.6921delC, NM_000132.3:c.693_696delAAAG, NM_000132.3:c.6969_6977delCTACCTTCG, NM_000132.3:c.6976C>G, NM_000132.3:c.6986C>T, NM_000132.3:c.6988delC, NM_000132.3:c.6995G>C, NM_000132.3:c.6996G>A, NM_000132.3:c.6997delG, NM_000132.3:c.7012delC, NM_000132.3:c.7016G>T, NM_000132.3:c.7021G>T, NM_000132.3:c.7030G>A, NM_000132.3:c.7030G>T, NM_000132.3:c.7031G>A, NM_000132.3:c.7033_7040delTGCGAGGC, NM_000132.3:c.7034G>A, NM_000132.3:c.709C>T, NM_000132.3:c.729delT, NM_000132.3:c.73delT, NM_000132.3:c.755C>A, NM_000132.3:c.760A>T, NM_000132.3:c.764G>A, NM_000132.3:c.770_771insCC, NM_000132.3:c.775A>T, NM_000132.3:c.779C>G, NM_000132.3:c.77T>C, NM_000132.3:c.787+2T>C, NM_000132.3:c.787G>C, NM_000132.3:c.788-1G>A, NM_000132.3:c.788-1G>C, NM_000132.3:c.788-1G>T, NM_000132.3:c.788-2A>T, NM_000132.3:c.796G>T, NM_000132.3:c.820T>C, NM_000132.3:c.822G>A, NM_000132.3:c.824A>G, NM_000132.3:c.832G>A, NM_000132.3:c.836T>A, NM_000132.3:c.849delT, NM_000132.3:c.850G>A, NM_000132.3:c.850G>T, NM_000132.3:c.86T>G, NM_000132.3:c.871G>T, NM_000132.3:c.872A>G, NM_000132.3:c.883T>C, NM_000132.3:c.886C>T, NM_000132.3:c.889delG, NM_000132.3:c.88G>A, NM_000132.3:c.899A>C, NM_000132.3:c.899A>T, NM_000132.3:c.902G>C, NM_000132.3:c.906delG, NM_000132.3:c.912C>T, NM_000132.3:c.918delA, NM_000132.3:c.920T>G, NM_000132.3:c.935delT, NM_000132.3:c.941C>T, NM_000132.3:c.943delG, NM_000132.3:c.948_951delAACA, NM_000132.3:c.967G>A, NM_000132.3:c.974_975delTT, NM_000132.3:c.97T>G, NM_000132.3:c.984delT, NM_000132.3:c.985dupT, NM_000132.3:c.986G>A, NM_000132.3:c.986G>C, NM_000132.3:c.986G>T, NM_000132.3:c.98G>A, NM_000132.3:c.1726G>T, NM_000132.3:c.4345G>T, NM_000132.3:c.435_436insTTT, NM_000132.3:c.433G>C, NM_000132.3:c.4719_4729delTGCAAAGACTC, NM_000132.3:c.439_447dupGTCTTCCCT, NM_000132.3:c.4720delG, NM_000132.3:c.1661G>A, NM_000132.3:c.4423C>T, NM_000132.3:c.1703G>T, NM_000132.3:c.1640G>A, NM_000132.3:c.1682A>C, NM_000132.3:c.1681G>A, NM_000132.3:c.1667T>A, NM_000132.3:c.4272delC, NM_000132.3:c.1653T>G, NM_000132.3:c.471G>A, NM_000132.3:c.1688C>G, NM_000132.3:c.4280delT, NM_000132.3:c.1675G>T |
| F8 | Hemophilia A | - | Inv22 (Detection by PCR) |
| F9 | Hemophilia B | NM_000133.3 | NM_000133.3:c.1150C>T, NM_000133.3:c.52T>C, NM_000133.3:c.1031T>C, NM_000133.3:c.82T>C, NM_000133.3:c.1136G>A, NM_000133.3:c.79G>A, NM_000133.3:c.19A>T, NM_000133.3:c.80A>T |
| FAH | Tyrosinemia type 1 | NM_000137.2 | NM_000137.2:c.1141A>G, NM_000137.2:c.1069G>T, NM_000137.2:c.1090G>T, NM_000137.2:c.401C>A, NM_000137.2:c.456G>A, NM_000137.2:c.192G>T, NM_000137.2:c.607-6T>G, NM_000137.2:c.707-1G>A, NM_000137.2:c.939delC, NM_000137.2:c.103G>A, NM_000137.2:c.982C>T, NM_000137.2:c.837+1G>A, NM_000137.2:c.1009G>A, NM_000137.2:c.47A>T, NM_000137.2:c.554-1G>T, NM_000137.2:c.1027G>T, NM_000137.2:c.1062+5G>A, NM_000137.2:c.786G>A, NM_000137.2:c.1021C>T, NM_000137.2:c.782C>T |
| FAM126A | Hypomyelination and congenital cataract | NM_032581.3 | NM_032581.3:c.191A>G, NM_032581.3:c.158T>C |
| FAM20C | Osteosclerotic bone dysplasia | NM_020223.3 | NM_020223.3:c.1093G>C, NM_020223.3:c.773T>A, NM_020223.3:c.1364-5C>T, NM_020223.3:c.1163T>G, NM_020223.3:c.838G>A, NM_020223.3:c.1351G>A |
| FANCA | Fanconi anemia, complementation group A | NM_000135.2 | NM_000135.2:c.3788_3790delTCT, NM_000135.2:c.2303T>C, NM_000135.2:c.3558_3559insG, NM_000135.2:c.4130C>G, NM_000135.2:c.233_236delTTGA, NM_000135.2:c.3763G>T, NM_000135.2:c.1115_1118delTTGG, NM_000135.2:c.131_132insA |
| FANCC | Fanconi anemia, complementation group C | NM_000136.2 | NM_000136.2:c.1642C>T, NM_000136.2:c.37C>T, NM_000136.2:c.996+1G>T, NM_000136.2:c.67delG, NM_000136.2:c.416G>A, NM_000136.2:c.1015delA, NM_000136.2:c.1487T>G, NM_000136.2:c.1103_1104delTG |
| FANCD2 | Fanconi anemia, complementation group D2 | NM_033084.3 | NM_033084.3:c.1278+1delG, NM_033084.3:c.2152C>T, NM_033084.3:c.2494+2T>C, NM_033084.3:c.958C>T, NM_033084.3:c.2444G>A, NM_033084.3:c.782A>T, NM_033084.3:c.904C>T |
| FANCE | Fanconi anemia, complementation group E | NM_021922.2 | NM_021922.2:c.1501C>T, NM_021922.2:c.929_930insC, NM_021922.2:c.421C>T, NM_021922.2:c.1114-8G>A, NM_021922.2:c.922_923insC, NM_021922.2:c.355C>T |
| FANCG | Fanconi anemia, complementation group G | NM_004629.1 | NM_004629.1:c.1795_1804delTGGATCCGTC, NM_004629.1:c.313G>T, NM_004629.1:c.637_643delTACCGCC, NM_004629.1:c.1480+1G>C, NM_004629.1:c.1852_1853delAA, NM_004629.1:c.510+1G>A, NM_004629.1:c.1077-2A>G, NM_004629.1:c.908_909insCT |
| FANCI | Fanconi anemia, complementation group I | NM_001113378.1 | NM_001113378.1:c.3816+1G>A, NM_001113378.1:c.52C>T, NM_001113378.1:c.989_991delTAA, NM_001113378.1:c.2097C>G, NM_001113378.1:c.3466G>C, NM_001113378.1:c.2292-1G>A, NM_001113378.1:c.3492delG, NM_001113378.1:c.3853C>T, NM_001113378.1:c.3626_3627delGT, NM_001113378.1:c.3854G>A |
| FANCL | Fanconi anemia, complementation group L | NM_018062.3 | NM_018062.3:c.1051_1052delAG, NM_018062.3:c.1066_1067delAG, NM_018062.3:c.1096_1099dupATTA, NM_018062.3:c.1099_1100insATTA |
| FANCM | Fanconi anemia, complementation group M | NM_020937.2 | NM_020937.2:c.2171C>A, NM_020937.2:c.5766_5769delGACT, NM_020937.2:c.5101C>T, NM_020937.2:c.1072G>T, NM_020937.2:c.2996_2997insC, NM_020937.2:c.2586_2589delAAAA, NM_020937.2:c.5791C>T, NM_020937.2:c.624_625delAA, NM_020937.2:c.5569G>A, NM_020937.2:c.5764_5767delCTGA |
| FGA | Congenital fibrinogen deficiency (gene FGA) | NM_021871.2 | NM_021871.2:c.1039C>T, NM_021871.2:c.1441delG, NM_021871.2:c.*675_*676insC, NM_021871.2:c.1359dupC, NM_021871.2:c.*1086delG, NM_021871.2:c.1906_1907insC |
| FGB | Congenital afibrinogenemia | NM_005141.4 | NM_005141.4:c.1289G>A, NM_005141.4:c.1148T>G, NM_005141.4:c.794C>T |
| FGD4 | Charcot-Marie-Tooth disease type 4H | NM_139241.2 | NM_139241.2:c.1325G>A, NM_139241.2:c.893T>G, NM_139241.2:c.893T>C, NM_139241.2:c.670C>T |
| FH | Fumaric aciduria | NM_000143.3 | NM_000143.3:c.1067T>A, NM_000143.3:c.697C>T, NM_000143.3:c.698G>A, NM_000143.3:c.1236+1G>C, NM_000143.3:c.901dupA, NM_000143.3:c.320A>C, NM_000143.3:c.760C>T, NM_000143.3:c.1431_1433dupAAA, NM_000143.3:c.521C>G, NM_000143.3:c.1093A>G, NM_000143.3:c.1189G>A, NM_000143.3:c.1200delT, NM_000143.3:c.1394A>G, NM_000143.3:c.1255T>C, NM_000143.3:c.793G>A, NM_000143.3:c.40_41insC, NM_000143.3:c.1446_1449delAAAG, NM_000143.3:c.1293delA |
| FHL1 | Emery-Dreifuss muscular dystrophy type 6 | NM_001449.4 | NM_001449.4:c.625T>C |
| FHL1 | Myopathy, reducing body | NM_001449.4 | NM_001449.4:c.689-479G>A, NM_001449.4:c.310T>C |
| FIG4 | Charcot-Marie-Tooth disease type 4J | NM_014845.5 | NM_014845.5:c.592C>T, NM_014845.5:c.831_838delTAAATTTG, NM_014845.5:c.547C>T, NM_014845.5:c.501C>G, NM_014845.5:c.737G>A, NM_014845.5:c.122T>C, NM_014845.5:c.2296_2297insG |
| FIG4 | Yunis-Varon syndrome | NM_014845.5 | NM_014845.5:c.311G>A |
| FKRP | Congenital muscular dystrophy type 5B | NM_024301.4 | NM_024301.4:c.235G>A, NM_024301.4:c.1343C>T, NM_024301.4:c.1387A>G, NM_024301.4:c.1154C>A |
| FKRP | Limb-girdle muscular dystrophy type 2I, autosomal recessive | NM_024301.4 | NM_024301.4:c.160C>T |
| FKTN | Fukuyama congenital muscular dystrophy | NM_001079802.1 | NM_001079802.1:c.1112A>G, NM_001079802.1:c.509C>A, NM_001079802.1:c.411C>A, NM_001079802.1:c.1167dupA |
| FKTN | Muscular dystrophy, limb girdle, type 2M | NM_001079802.1 | NM_001079802.1:c.1380dupA, NM_001079802.1:c.766C>T, NM_001079802.1:c.527T>C, NM_001079802.1:c.340G>A |
| FLNA | Frontometaphyseal dysplasia | NM_001456.3 | NM_001456.3:c.4447_4448insAT, NM_001456.3:c.760G>A, NM_001456.3:c.3476A>C, NM_001456.3:c.3557C>T |
| FLNA | Periventricular heterotopia | NM_001456.3 | NM_001456.3:c.4543C>T, NM_001456.3:c.7129C>T, NM_001456.3:c.7733-1G>C, NM_001456.3:c.7527_7528+6delAGGTGAGC, NM_001456.3:c.5108_5109delTCinsAA, NM_001456.3:c.2761C>T, NM_001456.3:c.4777_4778dupAA |
| FLVCR1 | Ataxia, posterior column, with retinitis pigmentosa | NM_014053.3 | NM_014053.3:c.361A>G, NM_014053.3:c.574T>C, NM_014053.3:c.739-2delA |
| FMR1 | Fragile X syndrome | - | (CGG)n pre-mutated allele (Detection by PCR and TP-PCR) |
| FOXN1 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | NM_003593.2 | NM_003593.2:c.763C>T |
| FRAS1 | Fraser syndrome | NM_025074.6 | NM_025074.6:c.7813C>T, NM_025074.6:c.832_835delTGTG, NM_025074.6:c.11159_11166delAGCTGGAG, NM_025074.6:c.776T>G, NM_025074.6:c.6991_6992insGG, NM_025074.6:c.6433C>T, NM_025074.6:c.3799C>T, NM_025074.6:c.1071+1_1071+4delGTGA, NM_025074.6:c.4969+1_4969+2insTAGC, NM_025074.6:c.5605_5606insT |
| FREM2 | Fraser syndrome | NM_207361.5 | NM_207361.5:c.2361_2362insC, NM_207361.5:c.8409+1G>A, NM_207361.5:c.5914G>A, NM_207361.5:c.5920G>A, NM_207361.5:c.3792_3795delTTAT |
| FUCA1 | Fucosidosis | NM_000147.4 | NM_000147.4:c.244C>T, NM_000147.4:c.1279C>T, NM_000147.4:c.856C>T, NM_000147.4:c.648C>A, NM_000147.4:c.1229T>G, NM_000147.4:c.433T>C |
| FXN | Friedreich ataxia | NM_000144.4 | NM_000144.4:c.389G>T, NM_000144.4:c.460A>T, NM_000144.4:c.385-2A>G, NM_000144.4:c.317T>G |
| G6PC | Glycogen storage disease type 1a | NM_000151.3 | NM_000151.3:c.508C>T, NM_000151.3:c.551G>A, NM_000151.3:c.447-1G>A, NM_000151.3:c.1039C>T, NM_000151.3:c.562G>C, NM_000151.3:c.380_381insTA, NM_000151.3:c.497T>G, NM_000151.3:c.247C>T, NM_000151.3:c.113A>T, NM_000151.3:c.229T>C, NM_000151.3:c.230+1G>C, NM_000151.3:c.47C>G, NM_000151.3:c.883C>T, NM_000151.3:c.370G>A, NM_000151.3:c.626A>G, NM_000151.3:c.248G>A |
| G6PC3 | Severe congenital neutropenia type 4 | NM_138387.3 | NM_138387.3:c.346A>G, NM_138387.3:c.141C>G, NM_138387.3:c.778G>C, NM_138387.3:c.758G>A, NM_138387.3:c.935_936insT, NM_138387.3:c.784G>C |
| GAA | Glycogen storage disease type 2 | NM_000152.3 | NM_000152.3:c.118C>T, NM_000152.3:c.1316T>A, NM_000152.3:c.1799G>A, NM_000152.3:c.1827_1828insA, NM_000152.3:c.1846_1847insA, NM_000152.3:c.1115A>T, NM_000152.3:c.1552-3C>G, NM_000152.3:c.1445C>T, NM_000152.3:c.2238G>C, NM_000152.3:c.1327-2A>G, NM_000152.3:c.1650dupG, NM_000152.3:c.2238G>A, NM_000152.3:c.307T>G, NM_000152.3:c.230_240delCAGTGCCCACA, NM_000152.3:c.2512C>T, NM_000152.3:c.1431delT, NM_000152.3:c.1561G>A, NM_000152.3:c.1465G>A, NM_000152.3:c.1548G>A, NM_000152.3:c.546G>A, NM_000152.3:c.1064T>C, NM_000152.3:c.877G>A, NM_000152.3:c.925G>A, NM_000152.3:c.768_769insT, NM_000152.3:c.2560C>T, NM_000152.3:c.655G>A, NM_000152.3:c.1408_1410delAAC, NM_000152.3:c.953T>C, NM_000152.3:c.1933G>T, NM_000152.3:c.1935C>A, NM_000152.3:c.1585_1586delTCinsGT, NM_000152.3:c.1927G>A, NM_000152.3:c.2041-1G>A, NM_000152.3:c.2066_2070dupAGCCG, NM_000152.3:c.2105G>T, NM_000152.3:c.2237G>A, NM_000152.3:c.525delT, NM_000152.3:c.546+1_546+4delGTGG, NM_000152.3:c.2544delC, NM_000152.3:c.1912G>T, NM_000152.3:c.1634C>T, NM_000152.3:c.710C>T, NM_000152.3:c.2015G>A, NM_000152.3:c.546G>C, NM_000152.3:c.2012T>G, NM_000152.3:c.853C>T, NM_000152.3:c.697delA |
| GALC | Krabbe disease | NM_000153.3 | NM_000153.3:c.1591C>T, NM_000153.3:c.1161+2T>G, NM_000153.3:c.1586C>T, NM_000153.3:c.1592G>A, NM_000153.3:c.1489+1_1489+2delGT, NM_000153.3:c.582+1G>A, NM_000153.3:c.388G>A, NM_000153.3:c.430delA, NM_000153.3:c.1695delT, NM_000153.3:c.1472delA, NM_000153.3:c.1004A>G, NM_000153.3:c.1153G>T, NM_000153.3:c.658C>T, NM_000153.3:c.1543G>A, NM_000153.3:c.332G>A, NM_000153.3:c.334A>G, NM_000153.3:c.205C>T, NM_000153.3:c.1796T>G, NM_000153.3:c.1814dupA, NM_000153.3:c.1700A>C, NM_000153.3:c.1723_1724insT, NM_000153.3:c.1964delC, NM_000153.3:c.236G>A, NM_000153.3:c.1488_1489+2delTGGT, NM_000153.3:c.453G>A, NM_000153.3:c.1488_1489delTG, NM_000153.3:c.628A>T, NM_000153.3:c.655C>T, NM_000153.3:c.953C>G, NM_000153.3:c.2056T>C |
| GALT | Galactosemia | NM_000155.3 | NM_000155.3:c.130G>A, NM_000155.3:c.132delG, NM_000155.3:c.118G>T, NM_000155.3:c.265T>G, NM_000155.3:c.289_291delAAC, NM_000155.3:c.1138T>C, NM_000155.3:c.113A>C, NM_000155.3:c.152G>A, NM_000155.3:c.1048delA, NM_000155.3:c.290A>G, NM_000155.3:c.221T>C, NM_000155.3:c.253-2A>G, NM_000155.3:c.425T>A, NM_000155.3:c.428C>T, NM_000155.3:c.442C>T, NM_000155.3:c.143G>C, NM_000155.3:c.443G>A, NM_000155.3:c.158G>A, NM_000155.3:c.18delC, NM_000155.3:c.199C>T, NM_000155.3:c.200G>A, NM_000155.3:c.203A>C, NM_000155.3:c.218_219delCT, NM_000155.3:c.512T>C, NM_000155.3:c.547C>A, NM_000155.3:c.552C>A, NM_000155.3:c.563A>G, NM_000155.3:c.565_578delGTATGGGCCAGCAG, NM_000155.3:c.568T>C, NM_000155.3:c.580T>C, NM_000155.3:c.584T>C, NM_000155.3:c.598delC, NM_000155.3:c.601C>T, NM_000155.3:c.602G>A, NM_000155.3:c.1030C>A, NM_000155.3:c.510C>A, NM_000155.3:c.617A>G, NM_000155.3:c.619C>T, NM_000155.3:c.626A>G, NM_000155.3:c.634C>T, NM_000155.3:c.688-2A>C, NM_000155.3:c.692G>A, NM_000155.3:c.292G>A, NM_000155.3:c.329-2A>C, NM_000155.3:c.367C>T, NM_000155.3:c.377+7A>C, NM_000155.3:c.386T>C, NM_000155.3:c.607G>A, NM_000155.3:c.610C>T, NM_000155.3:c.413C>T, NM_000155.3:c.416T>G, NM_000155.3:c.41delinsTT, NM_000155.3:c.904+1G>T, NM_000155.3:c.905-2A>G, NM_000155.3:c.907G>A, NM_000155.3:c.442G>A, NM_000155.3:c.947G>A, NM_000155.3:c.443G>C, NM_000155.3:c.445dupG, NM_000155.3:c.997C>G, NM_000155.3:c.997C>T, NM_000155.3:c.998G>A, NM_000155.3:c.793C>G, NM_000155.3:c.820+13A>G, NM_000155.3:c.1052delC, NM_000155.3:c.844C>G, NM_000155.3:c.855G>T, NM_000155.3:c.719_728delTAGTACTGGT, NM_000155.3:c.772C>T, NM_000155.3:c.939G>A, NM_000155.3:c.71_72insA, NM_000155.3:c.404C>T, NM_000155.3:c.508-1G>C, NM_000155.3:c.775C>T, NM_000155.3:c.400delT, NM_000155.3:c.502_504delGTG, NM_000155.3:c.957C>A, NM_000155.3:c.823C>G, NM_000155.3:c.505C>A, NM_000155.3:c.1006A>T, NM_000155.3:c.985T>C, NM_000155.3:c.790delC, NM_000155.3:c.790_792delinsTAG |
| GAMT | Guanidinoacetate methyltransferase deficiency | NM_000156.5 | NM_000156.5:c.506G>A, NM_000156.5:c.590T>C |
| GAN | Giant axonal neuropathy | NM_022041.3 | NM_022041.3:c.1447C>T, NM_022041.3:c.1456G>A, NM_022041.3:c.1684C>G, NM_022041.3:c.1429C>T, NM_022041.3:c.601C>T, NM_022041.3:c.413G>A, NM_022041.3:c.505G>A, NM_022041.3:c.1268T>C |
| GBA | Gaucher disease | NM_001005741.2 | NM_001005741.2:c.1093G>A, NM_001005741.2:c.1090G>A, NM_001005741.2:c.1043C>T, NM_001005741.2:c.1274dupA, NM_001005741.2:c.1098dupA, NM_001005741.2:c.1085C>T, NM_001005741.2:c.1102C>T, NM_001005741.2:c.1049A>G, NM_001005741.2:c.1240G>T, NM_001005741.2:c.1246G>A, NM_001005741.2:c.1301G>C, NM_001005741.2:c.1088T>C, NM_001005741.2:c.1348T>A, NM_001005741.2:c.1361C>G, NM_001005741.2:c.1342G>C, NM_001005741.2:c.1448T>C, NM_001005741.2:c.1448T>G, NM_001005741.2:c.1504C>T, NM_001005741.2:c.1447_1466delCTGGACGCAGTGGCACTGATinsTG, NM_001005741.2:c.254G>A, NM_001005741.2:c.259C>T, NM_001005741.2:c.1053G>T, NM_001005741.2:c.160G>T, NM_001005741.2:c.431T>G, NM_001005741.2:c.475C>T, NM_001005741.2:c.476G>A, NM_001005741.2:c.481C>T, NM_001005741.2:c.487delG, NM_001005741.2:c.497A>T, NM_001005741.2:c.508C>T, NM_001005741.2:c.1141T>G, NM_001005741.2:c.115+1G>A, NM_001005741.2:c.1171G>C, NM_001005741.2:c.1174C>G, NM_001005741.2:c.354G>C, NM_001005741.2:c.1060G>C, NM_001005741.2:c.1208G>C, NM_001005741.2:c.1228C>G, NM_001005741.2:c.123A>G, NM_001005741.2:c.1240G>C, NM_001005741.2:c.914delC, NM_001005741.2:c.517A>C, NM_001005741.2:c.1295G>T, NM_001005741.2:c.1307T>C, NM_001005741.2:c.1265_1319del, NM_001005741.2:c.1319C>T, NM_001005741.2:c.1309G>T, NM_001005741.2:c.1226A>G, NM_001005741.2:c.407C>A, NM_001005741.2:c.1343A>T, NM_001005741.2:c.84_85insG, NM_001005741.2:c.518C>T, NM_001005741.2:c.1391A>C, NM_001005741.2:c.509G>T, NM_001005741.2:c.1604G>A, NM_001005741.2:c.84dupG, NM_001005741.2:c.535G>C, NM_001005741.2:c.586A>C, NM_001005741.2:c.1297G>T, NM_001005741.2:c.1184C>T, NM_001005741.2:c.1192C>T |
| GBE1 | Glycogen storage disease type 4 | NM_000158.3 | NM_000158.3:c.1571G>A, NM_000158.3:c.1570C>T, NM_000158.3:c.1774G>T, NM_000158.3:c.771T>A, NM_000158.3:c.1543C>T, NM_000158.3:c.1883A>G, NM_000158.3:c.2052+1G>A, NM_000158.3:c.986A>C, NM_000158.3:c.466_470delCGTAT, NM_000158.3:c.1604A>G |
| GBE1 | Polyglucosan body disease, adult | NM_000158.3 | NM_000158.3:c.986A>G |
| GCDH | Glutaric acidemia type 1 | NM_000159.3 | NM_000159.3:c.1093G>A, NM_000159.3:c.1060G>C, NM_000159.3:c.542A>G, NM_000159.3:c.442G>A, NM_000159.3:c.1199dupT, NM_000159.3:c.572T>C, NM_000159.3:c.1060G>A, NM_000159.3:c.1247C>T, NM_000159.3:c.74C>A, NM_000159.3:c.947C>A, NM_000159.3:c.1168G>C, NM_000159.3:c.416C>T, NM_000159.3:c.1198G>A, NM_000159.3:c.636-1G>A, NM_000159.3:c.1204C>T, NM_000159.3:c.1244-2A>C, NM_000159.3:c.751C>T, NM_000159.3:c.1262C>T, NM_000159.3:c.1148G>A, NM_000159.3:c.680G>C, NM_000159.3:c.883T>C, NM_000159.3:c.1015A>G, NM_000159.3:c.764C>T, NM_000159.3:c.271+1G>A, NM_000159.3:c.743C>T, NM_000159.3:c.877G>A, NM_000159.3:c.914C>T, NM_000159.3:c.1002_1003delGA, NM_000159.3:c.383G>A, NM_000159.3:c.769C>T |
| GCSH | Glycine encephalopathy (GCSH) | NM_004483.4 | NM_004483.4:c.337dupT |
| GDAP1 | Charcot-Marie-Tooth disease type 4A | NM_018972.2 | NM_018972.2:c.358C>T, NM_018972.2:c.487C>T, NM_018972.2:c.311-1G>A, NM_018972.2:c.844C>T, NM_018972.2:c.715C>T, NM_018972.2:c.92G>A |
| GFM1 | Combined oxidative phosphorylation deficiency type 1 | NM_024996.5 | NM_024996.5:c.1294_1297delACAG, NM_024996.5:c.748C>T, NM_024996.5:c.139C>T, NM_024996.5:c.1528_1529delAG, NM_024996.5:c.521A>G |
| GJA1 | Oculodentodigital dysplasia | NM_000165.4 | NM_000165.4:c.227G>A, NM_000165.4:c.97C>T |
| GJB2 | Deafness type 1A, autosomal recessive | NM_004004.5 | NM_004004.5:c.176_191delGCTGCAAGAACGTGTG, NM_004004.5:c.169C>T, NM_004004.5:c.270dupA, NM_004004.5:c.239A>C, NM_004004.5:c.269T>C, NM_004004.5:c.427C>T, NM_004004.5:c.299_300delAT, NM_004004.5:c.250G>T, NM_004004.5:c.230G>A, NM_004004.5:c.516G>A, NM_004004.5:c.439G>A, NM_004004.5:c.465T>A, NM_004004.5:c.229T>C, NM_004004.5:c.241C>G, NM_004004.5:c.235delC, NM_004004.5:c.238C>T, NM_004004.5:c.557C>T, NM_004004.5:c.269_270insT, NM_004004.5:c.617A>G, NM_004004.5:c.231G>A, NM_004004.5:c.310_323delAGGAAGTTCATCAA, NM_004004.5:c.313_326delAAGTTCATCAAGGG, NM_004004.5:c.358_360delGAG, NM_004004.5:c.35delG, NM_004004.5:c.249C>G, NM_004004.5:c.334_335delAA, NM_004004.5:c.402delG, NM_004004.5:c.413G>A, NM_004004.5:c.416G>A, NM_004004.5:c.299A>T, NM_004004.5:c.250G>C, NM_004004.5:c.550C>T, NM_004004.5:c.551G>C, NM_004004.5:c.503A>G, NM_004004.5:c.227T>C, NM_004004.5:c.380G>A, NM_004004.5:c.132G>A, NM_004004.5:c.365A>T, NM_004004.5:c.139G>T |
| GJB3 | Deafness type 1A, autosomal recessive | NM_024009.2 | NM_024009.2:c.529T>G, NM_024009.2:c.580G>A, NM_024009.2:c.94C>T |
| GJB6 | Deafness type 1B, autosomal recessive | NM_006783.4 | NM_006783.4:c.261dupA, NM_006783.4:c.169C>T, NM_006783.4:c.485dupA, NM_006783.4:c.689dupA, NM_006783.4:c.14C>T, NM_006783.4:c.443delC, NM_006783.4:c.383_384delTA, NM_006783.4:c.689_690insA |
| GJC2 | Pelizaeus-Merzbacher-like disease type 1 | NM_020435.3 | NM_020435.3:c.857T>C, NM_020435.3:c.814T>G, NM_020435.3:c.613C>T, NM_020435.3:c.787G>A, NM_020435.3:c.718C>T, NM_020435.3:c.268C>T |
| GLB1 | GM1 Gangliosidosis | NM_000404.2 | NM_000404.2:c.1369C>T, NM_000404.2:c.1370G>A, NM_000404.2:c.1452C>G, NM_000404.2:c.176G>A, NM_000404.2:c.276G>A, NM_000404.2:c.1733A>G, NM_000404.2:c.1355dupA, NM_000404.2:c.442C>A, NM_000404.2:c.202C>T, NM_000404.2:c.591_592insT, NM_000404.2:c.622C>T, NM_000404.2:c.1549G>T, NM_000404.2:c.442C>T, NM_000404.2:c.457+2T>C, NM_000404.2:c.947A>G, NM_000404.2:c.438_440delTCT, NM_000404.2:c.601C>T, NM_000404.2:c.602G>A, NM_000404.2:c.1068+1G>T, NM_000404.2:c.1174_1175delCT, NM_000404.2:c.1004C>T, NM_000404.2:c.1051C>T, NM_000404.2:c.171C>G, NM_000404.2:c.1321G>A, NM_000404.2:c.1325G>A, NM_000404.2:c.818G>T, NM_000404.2:c.152T>C, NM_000404.2:c.1456_1466dupGGTGCATATAT, NM_000404.2:c.145C>T, NM_000404.2:c.175C>T, NM_000404.2:c.901G>A, NM_000404.2:c.1646C>T, NM_000404.2:c.1577dupG, NM_000404.2:c.1310A>T |
| GLB1 | Mucopolysaccharidosis type 4B | NM_000404.2 | NM_000404.2:c.1444C>T, NM_000404.2:c.1313G>A, NM_000404.2:c.817T>C, NM_000404.2:c.1445G>A, NM_000404.2:c.1223A>C |
| GLDC | Glycine encephalopathy | NM_000170.2 | NM_000170.2:c.322G>T, NM_000170.2:c.1229G>A, NM_000170.2:c.1545G>C, NM_000170.2:c.1691G>T, NM_000170.2:c.1166C>T, NM_000170.2:c.2113G>A, NM_000170.2:c.2284G>A, NM_000170.2:c.1705G>A, NM_000170.2:c.2216G>A, NM_000170.2:c.2405C>T |
| GLE1 | Lethal arthrogryposis with anterior horn cell disease | NM_001003722.1 | NM_001003722.1:c.2051T>C, NM_001003722.1:c.1412_1413delAG, NM_001003722.1:c.898-2A>G, NM_001003722.1:c.2069_2072delTTCT, NM_001003722.1:c.1807C>T |
| GM2A | GM2 Gangliosidosis | NM_000405.4 | NM_000405.4:c.285delC, NM_000405.4:c.160G>T, NM_000405.4:c.506G>C |
| GNE | Distal myopathy Nonaka type | NM_005476.5 | NM_005476.5:c.2116T>C, NM_005476.5:c.2135T>C, NM_005476.5:c.2086G>A, NM_005476.5:c.478C>T, NM_005476.5:c.1844C>G, NM_005476.5:c.737G>A, NM_005476.5:c.385C>T, NM_005476.5:c.1714G>T, NM_005476.5:c.1798G>A, NM_005476.5:c.2086G>T, NM_005476.5:c.787C>T, NM_005476.5:c.2023T>C, NM_005476.5:c.1993G>A, NM_005476.5:c.673G>A, NM_005476.5:c.909T>A, NM_005476.5:c.1727G>A |
| GNPTAB | Mucolipidosis type 2/type 3 | NM_024312.4 | NM_024312.4:c.1931C>T, NM_024312.4:c.1799delC, NM_024312.4:c.3503_3504delTC, NM_024312.4:c.3173C>G, NM_024312.4:c.25C>T, NM_024312.4:c.3663delG, NM_024312.4:c.1906dupA, NM_024312.4:c.2383delG, NM_024312.4:c.732_733delAA, NM_024312.4:c.749dupA, NM_024312.4:c.2896delA, NM_024312.4:c.648_651delAGAA, NM_024312.4:c.3326dupA, NM_024312.4:c.3410T>A, NM_024312.4:c.10A>C, NM_024312.4:c.1000C>T, NM_024312.4:c.1196C>T, NM_024312.4:c.1759C>T, NM_024312.4:c.3565C>T, NM_024312.4:c.616_619delACAG, NM_024312.4:c.99delC, NM_024312.4:c.3598G>A, NM_024312.4:c.3560_3561delAG |
| GNS | Mucopolysaccharidosis type 3D | NM_002076.3 | NM_002076.3:c.1063C>T, NM_002076.3:c.1226dupG, NM_002076.3:c.1169delA, NM_002076.3:c.1168C>T, NM_002076.3:c.413C>G |
| GPR143 | Ocular albinism, X-linked | NM_000273.2 | NM_000273.2:c.992_993insCG, NM_000273.2:c.695C>A |
| GPR179 | Night blindness, congenital stationary type 1E | NM_001004334.3 | NM_001004334.3:c.1784+1G>A, NM_001004334.3:c.1368delT, NM_001004334.3:c.3656_3657delCT, NM_001004334.3:c.6847_6848delCT, NM_001004334.3:c.984delC, NM_001004334.3:c.1807C>T, NM_001004334.3:c.278_279insC, NM_001004334.3:c.5693_5694insT, NM_001004334.3:c.278delC, NM_001004334.3:c.1236G>A, NM_001004334.3:c.376G>C, NM_001004334.3:c.3233_3234delCT, NM_001004334.3:c.5763_5764delGA, NM_001004334.3:c.839_842delATCA, NM_001004334.3:c.4699_4700delAG |
| GPR98 | Usher syndrome type 2C | NM_032119.3 | NM_032119.3:c.11377G>T, NM_032119.3:c.8713_8716dupAACA, NM_032119.3:c.2864C>A, NM_032119.3:c.18131A>G, NM_032119.3:c.2258_2270delAAGTGCTGAAATC, NM_032119.3:c.6275-1G>A, NM_032119.3:c.2636C>T, NM_032119.3:c.14973-1G>C, NM_032119.3:c.17668_17669delAT, NM_032119.3:c.5357_5358delAA, NM_032119.3:c.5747C>T, NM_032119.3:c.15196_15199dupCAAA, NM_032119.3:c.3151G>T, NM_032119.3:c.6901C>T, NM_032119.3:c.8790delC, NM_032119.3:c.5830G>A, NM_032119.3:c.6311_6312insT |
| GRHPR | Primary hyperoxaluria type 2 | NM_012203.1 | NM_012203.1:c.103delG, NM_012203.1:c.295C>T, NM_012203.1:c.755dupA, NM_012203.1:c.622C>T, NM_012203.1:c.435G>A |
| GRM6 | Night blindness, congenital stationary type 1B | NM_000843.3 | NM_000843.3:c.2341G>A, NM_000843.3:c.727_728insG, NM_000843.3:c.2213_2219delCCAGAGG, NM_000843.3:c.1861C>T, NM_000843.3:c.2560C>T, NM_000843.3:c.712C>T, NM_000843.3:c.2122C>T, NM_000843.3:c.719_720insG, NM_000843.3:c.1214T>C, NM_000843.3:c.1336C>T, NM_000843.3:c.1258C>T, NM_000843.3:c.1565G>A |
| GRXCR1 | Deafness type 25, autosomal recessive | NM_001080476.2 | NM_001080476.2:c.229C>T, NM_001080476.2:c.190G>A, NM_001080476.2:c.710_711delAT |
| GSS | Glutathione synthetase deficiency | NM_000178.2 | NM_000178.2:c.656A>G, NM_000178.2:c.847C>T, NM_000178.2:c.754C>T, NM_000178.2:c.799C>T, NM_000178.2:c.4delG, NM_000178.2:c.656A>C, NM_000178.2:c.491G>A, NM_000178.2:c.832C>T |
| GUCY2D | Leber congenital amaurosis type 1 | NM_000180.3 | NM_000180.3:c.1694T>C, NM_000180.3:c.2735_2736delTT, NM_000180.3:c.456C>A, NM_000180.3:c.622delC, NM_000180.3:c.2734_2735delTT, NM_000180.3:c.2945delG |
| GUSB | Mucopolysaccharidosis type 7 | NM_000181.3 | NM_000181.3:c.1065+1G>T, NM_000181.3:c.1084G>A, NM_000181.3:c.1144C>T, NM_000181.3:c.1337G>A, NM_000181.3:c.1222C>T, NM_000181.3:c.1730G>T, NM_000181.3:c.1831C>T, NM_000181.3:c.1856C>T, NM_000181.3:c.1881G>T, NM_000181.3:c.442C>T, NM_000181.3:c.499C>T, NM_000181.3:c.526C>T, NM_000181.3:c.646C>T, NM_000181.3:c.820_821delAC, NM_000181.3:c.1061C>T, NM_000181.3:c.1050G>C, NM_000181.3:c.1534G>A, NM_000181.3:c.1244C>T, NM_000181.3:c.1219_1220insC, NM_000181.3:c.866G>A, NM_000181.3:c.1244+1G>A, NM_000181.3:c.1521G>A, NM_000181.3:c.1429C>T, NM_000181.3:c.1618G>T, NM_000181.3:c.1338G>A |
| HADHA | Trifunctional protein deficiency | NM_000182.4 | NM_000182.4:c.1918C>T, NM_000182.4:c.274_278delTCATC, NM_000182.4:c.2131C>A, NM_000182.4:c.1793_1794delAT, NM_000182.4:c.1620+2_1620+6delTAAGG, NM_000182.4:c.2027G>A, NM_000182.4:c.1678C>T, NM_000182.4:c.2132_2133insC, NM_000182.4:c.2146+1G>A, NM_000182.4:c.919-2A>G, NM_000182.4:c.1644delC, NM_000182.4:c.1132C>T, NM_000182.4:c.1528G>C, NM_000182.4:c.499delA, NM_000182.4:c.845T>A, NM_000182.4:c.1422dupT |
| HADHB | Trifunctional protein deficiency | NM_000183.2 | NM_000183.2:c.788A>G, NM_000183.2:c.1364T>G, NM_000183.2:c.1331G>A |
| HAL | Histidinemia | NM_002108.3 | NM_002108.3:c.890_891insT, NM_002108.3:c.146_152delATGACGC, NM_002108.3:c.1287+2T>C, NM_002108.3:c.102_103insGC, NM_002108.3:c.903+1G>A |
| HBA | Alpha-thalassemia | - | --MED, --SEA, --THAI, -α4.2, -α3.7, --FIL, -(α)20.5 (Detection by PCR) |
| HBB | Beta-thalassemia | NM_000518.4 | NM_000518.4:c.135delC, NM_000518.4:c.118C>T, NM_000518.4:c.217dupA, NM_000518.4:c.92+5G>C, NM_000518.4:c.208G>A, NM_000518.4:c.85_86insC, NM_000518.4:c.92+5G>A, NM_000518.4:c.27dupG, NM_000518.4:c.126_129delCTTT, NM_000518.4:c.93-23T>C, NM_000518.4:c.92+1G>A, NM_000518.4:c.-50-u32C>T, NM_000518.4:c.82G>T, NM_000518.4:c.315+1G>A, NM_000518.4:c.52A>T, NM_000518.4:c.380T>A, NM_000518.4:c.93-21G>A, NM_000518.4:c.79G>A, NM_000518.4:c.112delT, NM_000518.4:c.92+6T>C, NM_000518.4:c.59A>G, NM_000518.4:c.364G>A |
| HBB | Sickle cell anaemia | NM_000518.4 | NM_000518.4:c.19G>A, NM_000518.4:c.20A>T |
| HESX1 | Combined pituitary hormone deficiencies, genetic forms | NM_003865.2 | NM_003865.2:c.374A>G, NM_003865.2:c.77T>C, NM_003865.2:c.445G>A, NM_003865.2:c.450_451delCA, NM_003865.2:c.18G>C |
| HEXA | Tay-Sachs disease | NM_000520.4 | NM_000520.4:c.1176G>A, NM_000520.4:c.1495C>T, NM_000520.4:c.1177C>T, NM_000520.4:c.116T>G, NM_000520.4:c.1510delC, NM_000520.4:c.1496G>A, NM_000520.4:c.1260G>C, NM_000520.4:c.1351C>G, NM_000520.4:c.1511G>A, NM_000520.4:c.1499delT, NM_000520.4:c.1510C>T, NM_000520.4:c.380T>G, NM_000520.4:c.459+5G>A, NM_000520.4:c.508C>T, NM_000520.4:c.509G>A, NM_000520.4:c.532C>T, NM_000520.4:c.533G>A, NM_000520.4:c.533G>T, NM_000520.4:c.1528C>T, NM_000520.4:c.173G>A, NM_000520.4:c.1A>G, NM_000520.4:c.1A>T, NM_000520.4:c.1444G>A, NM_000520.4:c.1453T>C, NM_000520.4:c.739C>T, NM_000520.4:c.745C>T, NM_000520.4:c.749G>A, NM_000520.4:c.759_774dupGCTTGCAGAGTTTGAC, NM_000520.4:c.772G>C, NM_000520.4:c.1214_1215delinsG, NM_000520.4:c.78G>A, NM_000520.4:c.538T>C, NM_000520.4:c.540C>G, NM_000520.4:c.805G>A, NM_000520.4:c.915_917delCTT, NM_000520.4:c.254-1G>C, NM_000520.4:c.2T>C, NM_000520.4:c.1537C>T, NM_000520.4:c.1490A>G, NM_000520.4:c.77G>A, NM_000520.4:c.1422G>C, NM_000520.4:c.805+1G>A, NM_000520.4:c.805+1G>C, NM_000520.4:c.672+1G>A, NM_000520.4:c.629C>T, NM_000520.4:c.987G>A, NM_000520.4:c.632T>C, NM_000520.4:c.1278_1279insTATC, NM_000520.4:c.1274_1277dupTATC, NM_000520.4:c.986+3A>G, NM_000520.4:c.611A>G, NM_000520.4:c.1277_1278insTAT |
| HEXB | Sandhoff disease | NM_000521.3 | NM_000521.3:c.1310_1311delCA, NM_000521.3:c.1380G>A, NM_000521.3:c.1367A>C, NM_000521.3:c.1238_1242delCAAAG, NM_000521.3:c.298delC, NM_000521.3:c.1345delT, NM_000521.3:c.797A>G, NM_000521.3:c.1539_1540delCT, NM_000521.3:c.1375G>T, NM_000521.3:c.508C>T, NM_000521.3:c.1517_1529dupCAAGTGCTGTTGG, NM_000521.3:c.841C>T, NM_000521.3:c.202_203insGG, NM_000521.3:c.1250C>T, NM_000521.3:c.1619_1620insTTCATGTTATCTACAGACGTG, NM_000521.3:c.1537_1538delCT, NM_000521.3:c.170delG, NM_000521.3:c.115delG, NM_000521.3:c.171delG, NM_000521.3:c.850C>T |
| HFE | Haemochromatosis | NM_000410.3 | NM_000410.3:c.18G>C, NM_000410.3:c.252G>A, NM_000410.3:c.989G>T, NM_000410.3:c.314T>C, NM_000410.3:c.193A>T, NM_000410.3:c.829G>A, NM_000410.3:c.277G>C |
| HGD | Alkaptonuria | NM_000187.3 | NM_000187.3:c.140C>T, NM_000187.3:c.16-1G>A, NM_000187.3:c.342+1G>A, NM_000187.3:c.1111_1112insC, NM_000187.3:c.899T>G, NM_000187.3:c.1189-2A>G, NM_000187.3:c.674G>A, NM_000187.3:c.175delA, NM_000187.3:c.283-5delT, NM_000187.3:c.172A>T, NM_000187.3:c.873C>A, NM_000187.3:c.283-4C>T, NM_000187.3:c.808G>A, NM_000187.3:c.1102A>G, NM_000187.3:c.469+2T>C, NM_000187.3:c.688C>T, NM_000187.3:c.481G>A |
| HGF | Deafness type 39, autosomal recessive | NM_000601.4 | NM_000601.4:c.2028delA, NM_000601.4:c.1597C>T |
| HGSNAT | Mucopolysaccharidosis type 3C | NM_152419.2 | NM_152419.2:c.1378-1G>A, NM_152419.2:c.1843G>A, NM_152419.2:c.607C>T, NM_152419.2:c.1250+1G>A, NM_152419.2:c.848C>T, NM_152419.2:c.1464+1G>A, NM_152419.2:c.1501delA, NM_152419.2:c.1030C>T, NM_152419.2:c.1503delA, NM_152419.2:c.1553C>T, NM_152419.2:c.1622C>T, NM_152419.2:c.493+1G>A |
| HIBCH | 3-Hydroxyisobutryl-CoA hydrolase deficiency | NM_014362.3 | NM_014362.3:c.1012A>T, NM_014362.3:c.79-3C>G, NM_014362.3:c.494_495delTT, NM_014362.3:c.365A>G, NM_014362.3:c.220-9T>G |
| HMGCL | 3-hydroxy-3-methylglutaric aciduria | NM_000191.2 | NM_000191.2:c.835G>A, NM_000191.2:c.230delT, NM_000191.2:c.122G>A, NM_000191.2:c.698A>G, NM_000191.2:c.206_207delCT, NM_000191.2:c.505_506delTC |
| HPD | Tyrosinemia type 3 | NM_002150.2 | NM_002150.2:c.600C>G, NM_002150.2:c.774T>G, NM_002150.2:c.1005C>G, NM_002150.2:c.987delA |
| HPRT1 | Lesch-Nyhan syndrome | NM_000194.2 | NM_000194.2:c.486-1G>A, NM_000194.2:c.508C>T, NM_000194.2:c.610-2A>G, NM_000194.2:c.532+2T>G |
| HPS1 | Hermansky-Pudlak syndrome type 1 | NM_000195.3 | NM_000195.3:c.972_973insC, NM_000195.3:c.972delC, NM_000195.3:c.1996G>T, NM_000195.3:c.398+5G>A, NM_000195.3:c.1472_1487dupCCAGCAGGGGAGGCCC, NM_000195.3:c.397G>T |
| HSD17B4 | D-bifunctional protein deficiency | NM_000414.3 | NM_000414.3:c.1369A>T, NM_000414.3:c.46G>A, NM_000414.3:c.972+1G>T, NM_000414.3:c.317G>C |
| HSD17B4 | Perrault syndrome | NM_000414.3 | NM_000414.3:c.650A>G |
| HSPD1 | Leukodystrophy hypomyelinating type 4 | NM_002156.4 | NM_002156.4:c.1381C>G, NM_002156.4:c.292G>A |
| HSPG2 | Schwartz-Jampel syndrome type 1 | NM_005529.6 | NM_005529.6:c.13075delC, NM_005529.6:c.1653_1654insT, NM_005529.6:c.10355G>A, NM_005529.6:c.1125C>A, NM_005529.6:c.9326delA, NM_005529.6:c.8464+4A>G |
| HTRA1 | CARASIL syndrome | NM_002775.4 | NM_002775.4:c.1108C>T, NM_002775.4:c.883G>A, NM_002775.4:c.904C>T, NM_002775.4:c.754G>A, NM_002775.4:c.889G>A |
| HYLS1 | Hydrolethalus syndrome type 1 | NM_145014.2 | NM_145014.2:c.632A>G, NM_145014.2:c.724C>T, NM_145014.2:c.669G>A |
| IDH3B | Retinitis pigmentosa type 46 | NM_006899.3 | NM_006899.3:c.395T>C, NM_006899.3:c.490C>T, NM_006899.3:c.589delA |
| IDS | Mucopolysaccharidosis type 2 | NM_000202.6 | NM_000202.6:c.1464G>T, NM_000202.6:c.1466G>C, NM_000202.6:c.1505G>C, NM_000202.6:c.283A>G, NM_000202.6:c.208dupC, NM_000202.6:c.596_599delAACA, NM_000202.6:c.597delA, NM_000202.6:c.683C>T, NM_000202.6:c.1148delC, NM_000202.6:c.880-8A>G, NM_000202.6:c.937C>T, NM_000202.6:c.998C>T, NM_000202.6:c.690_691insT, NM_000202.6:c.1122C>T, NM_000202.6:c.587T>C, NM_000202.6:c.314_317dupTCAA, NM_000202.6:c.278delC, NM_000202.6:c.514C>T, NM_000202.6:c.1508T>A, NM_000202.6:c.388_389insG, NM_000202.6:c.240+1G>A, NM_000202.6:c.404A>G |
| IFT80 | Short-rib thoracic dysplasia type 2 with or without polydactyly | NM_020800.2 | NM_020800.2:c.701C>G, NM_020800.2:c.721G>C, NM_020800.2:c.315C>G |
| IGF1 | Growth delay due to insulin-like growth factor type 1 deficiency | NM_000618.3 | NM_000618.3:c.274G>A |
| IGHMBP2 | Spinal muscular atrophy, distal, type 1, autosomal recessive | NM_002180.2 | NM_002180.2:c.1488C>A, NM_002180.2:c.2611+1G>T, NM_002180.2:c.1540G>A, NM_002180.2:c.1738G>A, NM_002180.2:c.661delA, NM_002180.2:c.121C>T, NM_002180.2:c.1101_1116delCTACTTCGACGTGGTG, NM_002180.2:c.2922T>G, NM_002180.2:c.1107C>G, NM_002180.2:c.2362C>T, NM_002180.2:c.638A>G |
| IKBKAP | Familial dysautonomia | NM_003640.3 | NM_003640.3:c.3332delC, NM_003640.3:c.1460+2T>C, NM_003640.3:c.2204+6T>C, NM_003640.3:c.2328delT, NM_003640.3:c.2741C>T, NM_003640.3:c.2087G>C, NM_003640.3:c.2087G>A |
| IL2RG | Severe combined immunodeficiency T-B+; X-linked | NM_000206.2 | NM_000206.2:c.454+1G>A, NM_000206.2:c.452T>C, NM_000206.2:c.186T>A, NM_000206.2:c.664C>T, NM_000206.2:c.343T>C, NM_000206.2:c.854G>A, NM_000206.2:c.341G>A, NM_000206.2:c.355A>T |
| IMPDH1 | Retinitis pigmentosa type 10 | NM_000883.3 | NM_000883.3:c.1057G>A, NM_000883.3:c.1390delC, NM_000883.3:c.931G>A |
| IMPG2 | Retinitis pigmentosa type 56 | NM_016247.3 | NM_016247.3:c.635C>G, NM_016247.3:c.3262C>T, NM_016247.3:c.502-1G>C, NM_016247.3:c.2890C>T |
| INPP5E | Joubert syndrome type 1 | NM_019892.4 | NM_019892.4:c.1132C>T, NM_019892.4:c.855_856insCG, NM_019892.4:c.1688G>A, NM_019892.4:c.1543C>T, NM_019892.4:c.1304G>A |
| INPP5E | MORM syndrome | NM_019892.4 | NM_019892.4:c.1879C>T |
| INSR | Diabetes mellitus, insulin-resistant | NM_000208.2 | NM_000208.2:c.3079C>T, NM_000208.2:c.3680G>C, NM_000208.2:c.3034G>A, NM_000208.2:c.1114C>T, NM_000208.2:c.1378A>G |
| INSR | Leprechaunism | NM_000208.2 | NM_000208.2:c.2668C>T, NM_000208.2:c.172G>A |
| IQCB1 | Senior-Loken syndrome type 5 | NM_001023570.2 | NM_001023570.2:c.1036G>T, NM_001023570.2:c.817G>T, NM_001023570.2:c.1381C>T, NM_001023570.2:c.1465C>T, NM_001023570.2:c.1090C>T, NM_001023570.2:c.1518_1519delCA, NM_001023570.2:c.1069C>T |
| ISCU | Myopathy with deficiency of ISCU | NM_213595.3 | NM_213595.3:c.338_339+2delCGGT, NM_213595.3:c.149G>A |
| ITGA6 | Epidermolysis bullosa, junctional with pyloric atresia | NM_000210.2 | NM_000210.2:c.791delC, NM_000210.2:c.1255dupA |
| ITGB4 | Epidermolysis bullosa, junctional with pyloric atresia | NM_001005731.1 | NM_001005731.1:c.112T>C, NM_001005731.1:c.1684T>C, NM_001005731.1:c.1150delG, NM_001005731.1:c.1544G>A, NM_001005731.1:c.3977-19T>A, NM_001005731.1:c.4410delG, NM_001005731.1:c.4433G>A, NM_001005731.1:c.5119+2T>C, NM_001005731.1:c.3321_3331delACTGGACCGGA, NM_001005731.1:c.4618C>T, NM_001005731.1:c.182G>A, NM_001005731.1:c.2607delC, NM_001005731.1:c.3801_3802insT, NM_001005731.1:c.3841C>T, NM_001005731.1:c.2608delC, NM_001005731.1:c.3793+1G>A, NM_001005731.1:c.1660C>T, NM_001005731.1:c.3674G>A |
| ITGB4 | Epidermolysis bullosa, without pyloric atresia | NM_001005731.1 | NM_001005731.1:c.2792G>A |
| IVD | Isovaleric acidemia | NM_002225.3 | NM_002225.3:c.158G>C, NM_002225.3:c.1208A>G, NM_002225.3:c.157C>T, NM_002225.3:c.1141T>C, NM_002225.3:c.243+1G>A, NM_002225.3:c.1147+1_1147+4delGTGA, NM_002225.3:c.367G>A, NM_002225.3:c.605G>T, NM_002225.3:c.1145_1147+4delTTGGTGA, NM_002225.3:c.559+1G>A, NM_002225.3:c.134T>C, NM_002225.3:c.941C>T, NM_002225.3:c.627delT, NM_002225.3:c.793+1G>A, NM_002225.3:c.2T>G, NM_002225.3:c.1183C>T, NM_002225.3:c.390delT, NM_002225.3:c.406_407delTG, NM_002225.3:c.158G>A, NM_002225.3:c.593G>A, NM_002225.3:c.507delG, NM_002225.3:c.1188delT, NM_002225.3:c.465+2T>C, NM_002225.3:c.434_437dupATGA, NM_002225.3:c.860G>A, NM_002225.3:c.994_995delAT, NM_002225.3:c.1192C>T, NM_002225.3:c.478_479insGT |
| JAK3 | Severe combined immunodeficiency T-B+NK- | NM_000215.3 | NM_000215.3:c.452C>G, NM_000215.3:c.1765G>A, NM_000215.3:c.1333C>T, NM_000215.3:c.1172_1173insG, NM_000215.3:c.1837C>T, NM_000215.3:c.299A>G, NM_000215.3:c.1695C>A |
| KCNJ1 | Bartter syndrome type 2 | NM_000220.4 | NM_000220.4:c.1012C>T, NM_000220.4:c.1070T>C, NM_000220.4:c.592G>A, NM_000220.4:c.322G>C, NM_000220.4:c.372T>A, NM_000220.4:c.500G>A, NM_000220.4:c.237C>G, NM_000220.4:c.1014delA, NM_000220.4:c.641C>T, NM_000220.4:c.657C>G, NM_000220.4:c.996_999delAAAG, NM_000220.4:c.942T>G |
| KCNJ13 | Leber congenital amaurosis type 16 | NM_002242.4 | NM_002242.4:c.722T>C |
| KCNV2 | Retinal cone dystrophy type 3B | NM_133497.3 | NM_133497.3:c.1016_1024delACCTGGTGG, NM_133497.3:c.1376G>A, NM_133497.3:c.427G>T, NM_133497.3:c.226C>T, NM_133497.3:c.325C>T, NM_133497.3:c.357_358insC, NM_133497.3:c.1480A>C, NM_133497.3:c.1132_1133insT, NM_133497.3:c.854T>G, NM_133497.3:c.491T>C, NM_133497.3:c.767C>G, NM_133497.3:c.916G>T, NM_133497.3:c.778A>T, NM_133497.3:c.442G>T |
| KIF7 | Acrocallosal syndrome | NM_198525.2 | NM_198525.2:c.2473G>T, NM_198525.2:c.687delG, NM_198525.2:c.3001C>T, NM_198525.2:c.460C>T, NM_198525.2:c.61C>T, NM_198525.2:c.2896_2897delGC, NM_198525.2:c.3778_3779insC |
| L1CAM | MASA sindrome/hydrocephalus | NM_000425.4 | NM_000425.4:c.3489_3490delTG, NM_000425.4:c.3201T>G, NM_000425.4:c.719C>T, NM_000425.4:c.3581C>T, NM_000425.4:c.2879delA, NM_000425.4:c.791G>A, NM_000425.4:c.2092G>A, NM_000425.4:c.924C>T, NM_000425.4:c.536T>G, NM_000425.4:c.23delT, NM_000425.4:c.2254G>A, NM_000425.4:c.800dupA, NM_000425.4:c.772C>T, NM_000425.4:c.1354G>A, NM_000425.4:c.551G>A, NM_000425.4:c.1792G>A, NM_000425.4:c.1108G>A |
| LAMA2 | Congenital muscular dystrophy type 1A | NM_000426.3 | NM_000426.3:c.184G>T, NM_000426.3:c.1612C>T, NM_000426.3:c.3718C>T, NM_000426.3:c.2750-1G>C, NM_000426.3:c.2049_2050delAG, NM_000426.3:c.5050G>T, NM_000426.3:c.1634T>A, NM_000426.3:c.2045_2046delAG, NM_000426.3:c.4645C>T, NM_000426.3:c.2962C>T, NM_000426.3:c.2098_2099delTT, NM_000426.3:c.4437-5T>A, NM_000426.3:c.2901C>A, NM_000426.3:c.112+1G>A, NM_000426.3:c.7732C>T, NM_000426.3:c.6038delT, NM_000426.3:c.7888C>T, NM_000426.3:c.825delC, NM_000426.3:c.8314delA, NM_000426.3:c.3976C>T, NM_000426.3:c.9101_9104dupAACA, NM_000426.3:c.9253C>T, NM_000426.3:c.2323-2A>T, NM_000426.3:c.8748delA, NM_000426.3:c.6334A>T, NM_000426.3:c.1050delT, NM_000426.3:c.7536delC, NM_000426.3:c.8705delT, NM_000426.3:c.9221delA, NM_000426.3:c.5227G>T, NM_000426.3:c.6429+1G>A, NM_000426.3:c.6617delT, NM_000426.3:c.2451-2A>G, NM_000426.3:c.6011delA, NM_000426.3:c.7810C>T, NM_000426.3:c.8684C>G, NM_000426.3:c.3630delT, NM_000426.3:c.3215delG, NM_000426.3:c.3623_3645delAGGGCATTGTTTTTCAACATCCA, NM_000426.3:c.6955C>T, NM_000426.3:c.7279_7280delCT, NM_000426.3:c.725G>A, NM_000426.3:c.7147C>T, NM_000426.3:c.3237C>A |
| LAMA3 | Epidermolysis bullosa, junctional | NM_000227.3 | NM_000227.3:c.-122061G>T, NM_000227.3:c.335delG, NM_000227.3:c.4878dupT, NM_000227.3:c.2116A>T, NM_000227.3:c.4135C>T, NM_000227.3:c.751G>T, NM_000227.3:c.1981C>T, NM_000227.3:c.3350+2T>G, NM_000227.3:c.1182delG, NM_000227.3:c.4335_4336insA, NM_000227.3:c.2662C>T |
| LAMB3 | Epidermolysis bullosa, junctional | NM_000228.2 | NM_000228.2:c.1587_1588delAG, NM_000228.2:c.124C>T, NM_000228.2:c.1438_1442delCCGTG, NM_000228.2:c.1830G>A, NM_000228.2:c.565-2A>G, NM_000228.2:c.2806C>T, NM_000228.2:c.904delT, NM_000228.2:c.1357delT, NM_000228.2:c.3228+1G>T, NM_000228.2:c.628+1delG, NM_000228.2:c.496C>T, NM_000228.2:c.1903C>T, NM_000228.2:c.628G>A, NM_000228.2:c.3228+1G>A, NM_000228.2:c.727C>T |
| LAMC2 | Epidermolysis bullosa, junctional | NM_005562.2 | NM_005562.2:c.1659C>A, NM_005562.2:c.3069+1G>A, NM_005562.2:c.1782_1783delGC, NM_005562.2:c.2137_2143delCAGAACC, NM_005562.2:c.283C>T, NM_005562.2:c.343C>T, NM_005562.2:c.3512_3513insA, NM_005562.2:c.405-1G>A, NM_005562.2:c.3120_3121insA |
| LARGE | Muscular dystrophy-dystroglycanopathy type 6 | NM_004737.4 | NM_004737.4:c.1102C>T, NM_004737.4:c.992C>T, NM_004737.4:c.1525G>A, NM_004737.4:c.1483T>C |
| LBR | Greenberg skeletal dysplasia | NM_002296.3 | NM_002296.3:c.1748G>A, NM_002296.3:c.1402delT, NM_002296.3:c.1114C>T, NM_002296.3:c.32_35delTGGT |
| LDHA | Glycogen storage disease type 11 | NM_005566.3 | NM_005566.3:c.126+1_126+4delGTAA, NM_005566.3:c.126+1G>A, NM_005566.3:c.310G>T, NM_005566.3:c.126+1_126+4del, NM_005566.3:c.397G>T, NM_005566.3:c.213+1_213+4delGTAA, NM_005566.3:c.640_641delCT |
| LEPRE1 | Osteogenesis imperfecta type 8 | NM_022356.3 | NM_022356.3:c.2055+13_2055+31del19, NM_022356.3:c.1656C>A, NM_022356.3:c.1365_1366delAGinsC, NM_022356.3:c.2068_2086delCGAGCGGGTGAGAGCAGCT, NM_022356.3:c.747delC, NM_022356.3:c.1102C>T, NM_022356.3:c.1473+1G>T |
| LHFPL5 | Deafness type 67, autosomal recessive | NM_182548.3 | NM_182548.3:c.494C>T, NM_182548.3:c.476G>A, NM_182548.3:c.649delG, NM_182548.3:c.250delC, NM_182548.3:c.380A>G |
| LHX3 | Combined pituitary hormone deficiency type 3 | NM_014564.3 | NM_014564.3:c.687G>A, NM_014564.3:c.347A>G |
| LIFR | Stuve-Wiedemann syndrome | NM_002310.5 | NM_002310.5:c.2013_2014insT, NM_002310.5:c.653dupT, NM_002310.5:c.1018_1022delAATTG, NM_002310.5:c.2503G>T, NM_002310.5:c.171_174delTAAC, NM_002310.5:c.1789C>T |
| LIG4 | LIG4 syndrome | NM_002312.3 | NM_002312.3:c.1271_1275delAAAGA, NM_002312.3:c.833G>A, NM_002312.3:c.1738C>T, NM_002312.3:c.2440C>T, NM_002312.3:c.1406G>A, NM_002312.3:c.1455_1456delTG, NM_002312.3:c.1369_1372delGGAC, NM_002312.3:c.1512_1513delTC |
| LMNA | Cardiomyopathy, dilated type 1A | NM_170707.3 | NM_170707.3:c.1366A>C, NM_170707.3:c.1930C>T, NM_170707.3:c.1567G>A, NM_170707.3:c.1786G>A |
| LMNA | Hutchinson-Gilford progeria syndrome | NM_170707.3 | NM_170707.3:c.1579C>T, NM_170707.3:c.1411C>T, NM_170707.3:c.1824C>T, NM_170707.3:c.1626G>C |
| LMNA | Lipodystrophy, familial partial, type 2 | NM_170707.3 | NM_170707.3:c.1318G>A |
| LMNA | Mandibuloacral dysplasia | NM_170707.3 | NM_170707.3:c.1586C>T, NM_170707.3:c.1580G>A, NM_170707.3:c.1585G>A, NM_170707.3:c.1228C>T |
| LMNA | Muscular dystrophy, Emery-Dreifuss type 3 | NM_170707.3 | NM_170707.3:c.1072G>A, NM_170707.3:c.419T>C, NM_170707.3:c.1488+1G>A, NM_170707.3:c.1583C>A |
| LOXHD1 | Deafness type 77, autosomal recessive | NM_144612.6 | NM_144612.6:c.2008C>T, NM_144612.6:c.2T>A, NM_144612.6:c.3874C>T, NM_144612.6:c.4526G>A, NM_144612.6:c.3924C>A, NM_144612.6:c.512-1G>A, NM_144612.6:c.4524_4525delAG, NM_144612.6:c.4714C>T, NM_144612.6:c.457_461dupCGCCA |
| LRAT | Leber congenital amaurosis type 14 | NM_004744.3 | NM_004744.3:c.217_218delAT, NM_004744.3:c.588dupT |
| LRAT | Retinal dystrophy, early-onset severe | NM_004744.3 | NM_004744.3:c.525T>A |
| LRP2 | Donnai-Barrow syndrome | NM_004525.2 | NM_004525.2:c.11469_11472delTTTG, NM_004525.2:c.2640-1G>A, NM_004525.2:c.13139_13140insC, NM_004525.2:c.1093C>T, NM_004525.2:c.11663G>A, NM_004525.2:c.7564T>C, NM_004525.2:c.8519_8522delATTT, NM_004525.2:c.1341+2T>G, NM_004525.2:c.10769-2A>G, NM_004525.2:c.9484_9485delGT, NM_004525.2:c.13388+2T>C, NM_004525.2:c.11636-1G>T |
| LRP5 | Exudative vitreoretinopathy type 4 | NM_002335.3 | NM_002335.3:c.2254C>G, NM_002335.3:c.518C>T, NM_002335.3:c.1709G>A, NM_002335.3:c.804_813delGGGGAAGAGG, NM_002335.3:c.4099G>A |
| LRP5 | Isolated polycystic liver disease | NM_002335.3 | NM_002335.3:c.4651G>A |
| LRP5 | Osteoporosis-pseudoglioma syndrome | NM_002335.3 | NM_002335.3:c.1481G>A, NM_002335.3:c.1453G>T, NM_002335.3:c.1468delG, NM_002335.3:c.2305delG, NM_002335.3:c.2202G>A, NM_002335.3:c.1708C>T, NM_002335.3:c.3107G>A, NM_002335.3:c.2557C>T |
| LRPPRC | Leigh syndrome, French-Canadian type | NM_133259.3 | NM_133259.3:c.1061C>T, NM_133259.3:c.3830_3839delGTGGTGCAATinsAG |
| LRTOMT | Deafness type 63, utosomal recessive | NM_001145308.4 | NM_001145308.4:c.242G>A |
| MAK | Retinitis pigmentosa type 62 | NM_001242957.1 | NM_001242957.1:c.37G>A, NM_001242957.1:c.719_720dupAG, NM_001242957.1:c.1087_1088delAG, NM_001242957.1:c.718C>T, NM_001242957.1:c.388A>C |
| MAN2B1 | Alpha-mannosidosis | NM_000528.3 | NM_000528.3:c.215A>T, NM_000528.3:c.2401G>T, NM_000528.3:c.2278C>T, NM_000528.3:c.2368C>T, NM_000528.3:c.2119C>T, NM_000528.3:c.2013delT, NM_000528.3:c.1A>G, NM_000528.3:c.1067C>G, NM_000528.3:c.384G>A, NM_000528.3:c.2398G>A, NM_000528.3:c.1915C>T, NM_000528.3:c.2426T>C, NM_000528.3:c.2436+2T>C, NM_000528.3:c.1259G>T, NM_000528.3:c.1780C>T, NM_000528.3:c.1929G>A, NM_000528.3:c.2686_2687delCTinsG, NM_000528.3:c.1830+1G>C |
| MARVELD2 | Deafness type 49, autosomal recessive | NM_001038603.2 | NM_001038603.2:c.1363C>T, NM_001038603.2:c.1183-1G>A |
| MAT1A | Methionine adenosyltransferase deficiency | NM_000429.2 | NM_000429.2:c.1006G>A, NM_000429.2:c.1070C>T, NM_000429.2:c.595C>T, NM_000429.2:c.1043_1044delTG, NM_000429.2:c.790C>T, NM_000429.2:c.827_828insG, NM_000429.2:c.538_539insTG, NM_000429.2:c.914T>C, NM_000429.2:c.791G>A, NM_000429.2:c.966T>G |
| MATN3 | Multiple epiphyseal dysplasia type 5 | NM_002381.4 | NM_002381.4:c.1405+2T>C, NM_002381.4:c.910T>A, NM_002381.4:c.1303G>A, NM_002381.4:c.693G>C |
| MBTPS2 | Ichthyosis follicularis-atrichia-photophobia | NM_015884.3 | NM_015884.3:c.1286G>A, NM_015884.3:c.1424T>C, NM_015884.3:c.677G>T, NM_015884.3:c.261G>A |
| MCCC1 | 3-Methylcrotonyl-CoA carboxylase type 1 deficiency | NM_020166.4 | NM_020166.4:c.1155A>C, NM_020166.4:c.1930G>T, NM_020166.4:c.2079delA, NM_020166.4:c.388G>A, NM_020166.4:c.559T>C, NM_020166.4:c.343C>T, NM_020166.4:c.640-2A>G, NM_020166.4:c.1942G>A, NM_020166.4:c.1905delA, NM_020166.4:c.640-1G>A, NM_020166.4:c.1074delG, NM_020166.4:c.1114C>T, NM_020166.4:c.558delA, NM_020166.4:c.1277T>C, NM_020166.4:c.1526delG, NM_020166.4:c.1380T>G, NM_020166.4:c.310C>T, NM_020166.4:c.1310T>C |
| MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency, type 2 | NM_022132.4 | NM_022132.4:c.295G>C, NM_022132.4:c.380C>G, NM_022132.4:c.1309A>G, NM_022132.4:c.515_516insT, NM_022132.4:c.1015G>A, NM_022132.4:c.464G>A, NM_022132.4:c.641delG, NM_022132.4:c.1576_1577insT, NM_022132.4:c.735_736insC, NM_022132.4:c.517_518insT, NM_022132.4:c.838G>T, NM_022132.4:c.499T>C, NM_022132.4:c.1367C>T, NM_022132.4:c.929C>G, NM_022132.4:c.1065A>T, NM_022132.4:c.1580G>A, NM_022132.4:c.994C>T, NM_022132.4:c.1072+1G>A |
| MCEE | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | NM_032601.3 | NM_032601.3:c.178A>C, NM_032601.3:c.2T>C, NM_032601.3:c.139C>T |
| MCOLN1 | Mucolipidosis type 4 | NM_020533.2 | NM_020533.2:c.1084G>T, NM_020533.2:c.304C>T, NM_020533.2:c.1207C>T, NM_020533.2:c.964C>T |
| MCPH1 | Microcephaly, primary, type 1, autosomal recessive | NM_024596.3 | NM_024596.3:c.1973+1G>A, NM_024596.3:c.2221C>T, NM_024596.3:c.427_428insA, NM_024596.3:c.1561G>T, NM_024596.3:c.1935+1G>T, NM_024596.3:c.215C>T, NM_024596.3:c.1249_1250insT |
| MECP2 | Rett syndrome | NM_004992.3 | NM_004992.3:c.1048_1050delAGC, NM_004992.3:c.215dupC, NM_004992.3:c.611C>G, NM_004992.3:c.1282G>A, NM_004992.3:c.916C>T, NM_004992.3:c.806delG, NM_004992.3:c.502C>T, NM_004992.3:c.880C>T, NM_004992.3:c.674C>T, NM_004992.3:c.964C>T, NM_004992.3:c.705G>A, NM_004992.3:c.808C>T, NM_004992.3:c.730C>T, NM_004992.3:c.683C>G, NM_004992.3:c.753delC, NM_004992.3:c.965C>T, NM_004992.3:c.763C>T |
| MED12 | Ohdo syndrome | NM_005120.2 | NM_005120.2:c.3493T>C, NM_005120.2:c.5185C>A, NM_005120.2:c.3443G>A |
| MED25 | Charcot-Marie-Tooth disease type 2B2 | NM_030973.3 | NM_030973.3:c.316delG, NM_030973.3:c.1366C>T, NM_030973.3:c.1004C>T |
| MEFV | Familial mediterranean fever | NM_000243.2 | NM_000243.2:c.163_164insA, NM_000243.2:c.1437C>G, NM_000243.2:c.2282G>A, NM_000243.2:c.163dupA, NM_000243.2:c.2076_2078delAAT, NM_000243.2:c.1958G>A, NM_000243.2:c.443A>T, NM_000243.2:c.656_657insG, NM_000243.2:c.688G>A, NM_000243.2:c.800C>T, NM_000243.2:c.1223G>A, NM_000243.2:c.501G>C, NM_000243.2:c.2040G>A, NM_000243.2:c.2040G>C, NM_000243.2:c.2084A>G, NM_000243.2:c.1141C>T, NM_000243.2:c.1016C>T, NM_000243.2:c.2177T>C, NM_000243.2:c.1772T>C, NM_000243.2:c.2080A>G, NM_000243.2:c.2082G>A, NM_000243.2:c.2230G>T |
| MERTK | Retinitis pigmentosa type 38 | NM_006343.2 | NM_006343.2:c.2189+1G>T, NM_006343.2:c.1605-2A>G, NM_006343.2:c.2070_2074delAGGAC, NM_006343.2:c.2784_2785insTA, NM_006343.2:c.2785_2786dupTA, NM_006343.2:c.2323C>T, NM_006343.2:c.2207_2210delCTGT |
| MFRP | Microphthalmia - Retinitis pigmentosa - foveoschisis - optic disc drusen | NM_031433.3 | NM_031433.3:c.498delC, NM_031433.3:c.523C>T, NM_031433.3:c.629G>T, NM_031433.3:c.1150_1151insC, NM_031433.3:c.545T>C, NM_031433.3:c.1124+1G>T |
| MFSD8 | Ceroid lipofuscinosis, neuronal, type 7 | NM_152778.2 | NM_152778.2:c.1286G>A, NM_152778.2:c.999-2A>G, NM_152778.2:c.1235C>T, NM_152778.2:c.1090delA, NM_152778.2:c.362A>G, NM_152778.2:c.881C>A, NM_152778.2:c.929G>A, NM_152778.2:c.1525_1526delCT, NM_152778.2:c.894T>G |
| MGAT2 | Congenital disorders of glycosylation 2a type | NM_002408.3 | NM_002408.3:c.869C>T, NM_002408.3:c.785A>G, NM_002408.3:c.1017T>A |
| MKKS | Bardet-Biedl/McKusick-Kaufman syndrome | NM_018848.3 | NM_018848.3:c.353delG |
| MKKS | Bardet-Biedl syndrome type 6 | NM_018848.3 | NM_018848.3:c.830T>C, NM_018848.3:c.1436C>G |
| MKKS | McKusick-Kaufman syndrome | NM_018848.3 | NM_018848.3:c.250C>T, NM_018848.3:c.1225_1226delGG, NM_018848.3:c.724G>T |
| MKS1 | Bardet-Biedl syndrome type 13 | NM_017777.3 | NM_017777.3:c.1349T>C |
| MKS1 | Meckel type 1/Bardet-Biedl syndrome | NM_017777.3 | NM_017777.3:c.1024+1G>A, NM_017777.3:c.857A>G, NM_017777.3:c.1319T>C, NM_017777.3:c.814G>C, NM_017777.3:c.508C>T, NM_017777.3:c.1319G>C |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | NM_015166.3 | NM_015166.3:c.135_136insC, NM_015166.3:c.206C>T, NM_015166.3:c.278C>T, NM_015166.3:c.424-2A>C, NM_015166.3:c.422A>G, NM_015166.3:c.274C>T, NM_015166.3:c.839C>T, NM_015166.3:c.423C>A, NM_015166.3:c.33_34insC |
| MLYCD | Malonyl-CoA decarboxylase deficiency | NM_012213.2 | NM_012213.2:c.758delT, NM_012213.2:c.679delinsATGAAGC, NM_012213.2:c.560C>G |
| MMAA | Vitamin B12-responsive methylmalonic acidemia type cblA | NM_172250.2 | NM_172250.2:c.1034delT, NM_172250.2:c.283C>T, NM_172250.2:c.440G>A, NM_172250.2:c.451delC, NM_172250.2:c.592_595delCTGA, NM_172250.2:c.503delC, NM_172250.2:c.450_451insG, NM_172250.2:c.811G>T, NM_172250.2:c.586C>T, NM_172250.2:c.387C>A, NM_172250.2:c.620A>G |
| MMAB | Vitamin B12-responsive methylmalonic acidemia type cblB | NM_052845.3 | NM_052845.3:c.557G>A, NM_052845.3:c.556C>T, NM_052845.3:c.569G>A, NM_052845.3:c.568C>T, NM_052845.3:c.577G>A, NM_052845.3:c.197-1G>T, NM_052845.3:c.700C>T, NM_052845.3:c.548A>T, NM_052845.3:c.220G>T, NM_052845.3:c.197-1G>A |
| MMACHC | Methylmalonic aciduria cblC type, with homocystinuria | NM_015506.2 | NM_015506.2:c.389A>G, NM_015506.2:c.388T>C, NM_015506.2:c.482G>A, NM_015506.2:c.609G>A, NM_015506.2:c.688C>T, NM_015506.2:c.394C>T, NM_015506.2:c.440G>C, NM_015506.2:c.608G>A, NM_015506.2:c.481C>T, NM_015506.2:c.619_620insG, NM_015506.2:c.547_548delGT, NM_015506.2:c.347T>C, NM_015506.2:c.658_660delAAG, NM_015506.2:c.388_390delTAC, NM_015506.2:c.615C>A, NM_015506.2:c.331C>T, NM_015506.2:c.616C>T, NM_015506.2:c.270_271insA, NM_015506.2:c.271dupA, NM_015506.2:c.615C>G |
| MMADHC | methylmalonic aciduria cblD type, with homocystinuria | NM_015702.2 | NM_015702.2:c.545C>A, NM_015702.2:c.746A>G, NM_015702.2:c.419dupA, NM_015702.2:c.748C>T, NM_015702.2:c.795_796insT, NM_015702.2:c.57_64delCTCTTTAG, NM_015702.2:c.737A>G, NM_015702.2:c.776T>C, NM_015702.2:c.478+1G>T |
| MOCS1 | Molybdenum cofactor deficiency type A | NM_005943.5 | NM_005943.5:c.218G>A, NM_005943.5:c.397_406delCCGGACGTGG, NM_005943.5:c.217C>T, NM_005943.5:c.956G>A, NM_005943.5:c.1027C>T |
| MOCS2 | Molybdenum cofactor deficiency type B | NM_176806.3 | NM_176806.3:c.106_107delAT, NM_176806.3:c.*297+1G>A, NM_176806.3:c.58delT, NM_176806.3:c.245delT, NM_176806.3:c.190G>A, NM_176806.3:c.16C>T, NM_176806.3:c.*487A>C, NM_176806.3:c.*422G>A, NM_176806.3:c.*26_*27delAT, NM_176806.3:c.539_540delAA, NM_176806.3:c.*459_*460delAA |
| MPI | Congenital disorders of glycosylation type 1b | NM_002435.2 | NM_002435.2:c.305C>T, NM_002435.2:c.656G>A, NM_002435.2:c.982C>T, NM_002435.2:c.413T>C, NM_002435.2:c.884G>A, NM_002435.2:c.1016_1019delACCC |
| MPV17 | Mitochondrial DNA depletion syndrome type 6 | NM_002437.4 | NM_002437.4:c.263_265delAGA, NM_002437.4:c.148C>T, NM_002437.4:c.149G>A, NM_002437.4:c.263A>T, NM_002437.4:c.284_285insG, NM_002437.4:c.498C>A, NM_002437.4:c.462-2A>C, NM_002437.4:c.70G>T, NM_002437.4:c.359G>A |
| MPZ | Dejerine-Sottas syndrome (MPZ) | NM_000530.6 | NM_000530.6:c.661G>A, NM_000530.6:c.380G>A, NM_000530.6:c.123_125delTGT, NM_000530.6:c.407T>A, NM_000530.6:c.560_563dupAGGC, NM_000530.6:c.355_356insTCTACT, NM_000530.6:c.661_662dupGC, NM_000530.6:c.411C>T, NM_000530.6:c.188C>G, NM_000530.6:c.506delT, NM_000530.6:c.190_192delTTC, NM_000530.6:c.496_499delCTCGinsTCC, NM_000530.6:c.372_377delGTTCAC, NM_000530.6:c.89T>C, NM_000530.6:c.499G>C, NM_000530.6:c.368G>A |
| MPZ | Neuropathy, congenital hypomyelinating or amyelinating | NM_000530.6 | NM_000530.6:c.588dupT, NM_000530.6:c.626_630delCGTCG, NM_000530.6:c.392A>G, NM_000530.6:c.578G>A, NM_000530.6:c.397C>T, NM_000530.6:c.164G>T, NM_000530.6:c.150C>G, NM_000530.6:c.142C>G, NM_000530.6:c.130_137delTCCCGGGT, NM_000530.6:c.128G>T, NM_000530.6:c.549dupG, NM_000530.6:c.106A>G, NM_000530.6:c.410G>C, NM_000530.6:c.332C>T, NM_000530.6:c.371C>A, NM_000530.6:c.368_382delGCACGTTCACTTGTG, NM_000530.6:c.382G>A, NM_000530.6:c.393C>A, NM_000530.6:c.103G>T, NM_000530.6:c.88A>T, NM_000530.6:c.106A>T, NM_000530.6:c.419C>G |
| MRPS16 | Combined oxidative phosphorylation deficiency type 2 | NM_016065.3 | NM_016065.3:c.2T>C, NM_016065.3:c.331C>T |
| MRPS22 | Combined oxidative phosphorylation deficiency type 5 | NM_020191.2 | NM_020191.2:c.509G>A, NM_020191.2:c.644T>C, NM_020191.2:c.40_41insA |
| MTHFR | Homocystinuria due to MTHFR deficiency | NM_005957.4 | NM_005957.4:c.1743G>A, NM_005957.4:c.3G>A, NM_005957.4:c.547C>T, NM_005957.4:c.1129C>T, NM_005957.4:c.1768delC, NM_005957.4:c.968T>C, NM_005957.4:c.971A>G, NM_005957.4:c.439C>T |
| MTM1 | Myotubular myopathy, X-linked | NM_000252.2 | NM_000252.2:c.1415_1416delGT, NM_000252.2:c.1357_1358delCC, NM_000252.2:c.461T>G, NM_000252.2:c.420C>G, NM_000252.2:c.595_599delCCTGC, NM_000252.2:c.1261-10A>G, NM_000252.2:c.780T>A, NM_000252.2:c.670C>T, NM_000252.2:c.1306_1310dupCCTAT, NM_000252.2:c.969delA, NM_000252.2:c.721C>T, NM_000252.2:c.70C>T, NM_000252.2:c.969dupA |
| MTMR2 | Charcot-Marie-Tooth disease type 4B1 | NM_016156.5 | NM_016156.5:c.88C>T, NM_016156.5:c.304C>T, NM_016156.5:c.1276C>T, NM_016156.5:c.88A>T |
| MTTP | Abetalipoproteinemia | NM_000253.3 | NM_000253.3:c.1769G>T, NM_000253.3:c.2030delC, NM_000253.3:c.1619G>A, NM_000253.3:c.2593G>T, NM_000253.3:c.708_709delCA, NM_000253.3:c.1867+1G>A, NM_000253.3:c.703_704delAC |
| MUT | Methylmalonic acidemia | NM_000255.3 | NM_000255.3:c.1420C>T, NM_000255.3:c.1445-2A>G, NM_000255.3:c.2080C>T, NM_000255.3:c.1867G>A, NM_000255.3:c.607G>A, NM_000255.3:c.1658delT, NM_000255.3:c.1280G>A, NM_000255.3:c.1399C>T, NM_000255.3:c.914T>C, NM_000255.3:c.643G>A, NM_000255.3:c.655A>T, NM_000255.3:c.1741C>T, NM_000255.3:c.1106G>A, NM_000255.3:c.1871A>G, NM_000255.3:c.1924G>C, NM_000255.3:c.682C>T, NM_000255.3:c.572C>A, NM_000255.3:c.313T>C, NM_000255.3:c.1181T>A, NM_000255.3:c.278G>A, NM_000255.3:c.678_679insAATTTATG, NM_000255.3:c.794dupT, NM_000255.3:c.671_678dupAATTTATG, NM_000255.3:c.2150G>T, NM_000255.3:c.280G>A, NM_000255.3:c.91C>T, NM_000255.3:c.1207C>T |
| MVK | Hyper-IgD syndrome | NM_000431.3 | NM_000431.3:c.829C>T, NM_000431.3:c.803T>C, NM_000431.3:c.185G>A, NM_000431.3:c.494C>T, NM_000431.3:c.59A>C, NM_000431.3:c.1129G>A |
| MVK | Mevalonic aciduria | NM_000431.3 | NM_000431.3:c.1000G>A, NM_000431.3:c.902A>C, NM_000431.3:c.928G>A |
| MYO15A | Deafness type 3, autosomal recessive | NM_016239.3 | NM_016239.3:c.3385C>T, NM_016239.3:c.6003delG, NM_016239.3:c.6004delG, NM_016239.3:c.10573delA, NM_016239.3:c.3313G>T, NM_016239.3:c.3336delG, NM_016239.3:c.755dupA, NM_016239.3:c.5492G>T, NM_016239.3:c.4351G>A, NM_016239.3:c.6864_6874delGGACCTGGAGC, NM_016239.3:c.4751_4752dupTC, NM_016239.3:c.625G>T, NM_016239.3:c.3693-2A>G, NM_016239.3:c.6614C>T, NM_016239.3:c.6743C>T, NM_016239.3:c.6046+2T>G, NM_016239.3:c.5326C>T, NM_016239.3:c.3756+1G>T, NM_016239.3:c.8410A>T, NM_016239.3:c.8429_8447delGCGGGCAGCTGCGGGTCCT, NM_016239.3:c.8148G>T, NM_016239.3:c.9958_9961delGACT, NM_016239.3:c.4750_4751insTC, NM_016239.3:c.8548C>T |
| MYO3A | Deafness type 30, autosomal recessive | NM_017433.4 | NM_017433.4:c.1086T>G, NM_017433.4:c.2793+2T>A, NM_017433.4:c.4586+2T>G, NM_017433.4:c.4730+1G>A, NM_017433.4:c.1A>G, NM_017433.4:c.2506-1G>A, NM_017433.4:c.1777-12G>A, NM_017433.4:c.1952delC, NM_017433.4:c.1193C>A, NM_017433.4:c.770C>G, NM_017433.4:c.3154C>T, NM_017433.4:c.585+5G>C, NM_017433.4:c.2243delA, NM_017433.4:c.3112-2A>G, NM_017433.4:c.732-2A>G |
| MYO5A | Griscelli syndrome type 1 | NM_000259.3 | NM_000259.3:c.1145delC, NM_000259.3:c.2332C>T |
| MYO6 | Deafness type 37, autosomal recessive | NM_004999.3 | NM_004999.3:c.2897_2899delAAG, NM_004999.3:c.2840G>A, NM_004999.3:c.647A>T, NM_004999.3:c.3496C>T, NM_004999.3:c.3808C>T, NM_004999.3:c.1446_1447insT |
| MYO7A | Deafness type 2, autosomal recessive | NM_000260.3 | NM_000260.3:c.1797G>A, NM_000260.3:c.2023C>T, NM_000260.3:c.731G>C, NM_000260.3:c.3596dupT, NM_000260.3:c.1184G>A, NM_000260.3:c.133-2A>G |
| MYO7A | Usher syndrome type 1B | NM_000260.3 | NM_000260.3:c.1996C>T, NM_000260.3:c.1884C>A, NM_000260.3:c.448C>T, NM_000260.3:c.2476G>A, NM_000260.3:c.4024delT, NM_000260.3:c.2617C>T, NM_000260.3:c.5227C>T, NM_000260.3:c.1344-1G>A, NM_000260.3:c.5507T>G, NM_000260.3:c.5886_5889delCTTT, NM_000260.3:c.3504-1G>C, NM_000260.3:c.3508G>A, NM_000260.3:c.4018G>A, NM_000260.3:c.5392C>T, NM_000260.3:c.640G>A, NM_000260.3:c.3134T>C, NM_000260.3:c.5824G>T, NM_000260.3:c.3G>A, NM_000260.3:c.494C>T, NM_000260.3:c.5618G>A, NM_000260.3:c.5884_5887delTTCT, NM_000260.3:c.634C>T, NM_000260.3:c.3719G>A, NM_000260.3:c.5967C>G, NM_000260.3:c.3763delA, NM_000260.3:c.635G>A, NM_000260.3:c.6025delG |
| NAGA | Schindler disease | NM_000262.2 | NM_000262.2:c.973G>A, NM_000262.2:c.985C>T, NM_000262.2:c.986G>A, NM_000262.2:c.577G>T |
| NAGS | Hyperammonemia due to N-acetylglutamate synthetase deficiency | NM_153006.2 | NM_153006.2:c.971G>A, NM_153006.2:c.1289T>C, NM_153006.2:c.1025delG, NM_153006.2:c.916-2A>T, NM_153006.2:c.1307dupT, NM_153006.2:c.1299G>C |
| NDRG1 | Charcot-Marie-Tooth disease, type 4D | NM_006096.3 | NM_006096.3:c.16C>T, NM_006096.3:c.-18-2_-18-1delAG, NM_006096.3:c.538-1G>A, NM_006096.3:c.-18-2_-18-1del1, NM_006096.3:c.928C>T, NM_006096.3:c.442C>T |
| NEB | Nemaline myopathy type 2 | NM_004543.4 | NM_004543.4:c.11474_11475delTG, NM_004543.4:c.19119_19120delGA, NM_004543.4:c.19306-1G>A, NM_004543.4:c.19606G>T, NM_004543.4:c.6105dupT, NM_004543.4:c.3191A>G, NM_004543.4:c.18318_18319delAG, NM_004543.4:c.11473_11474delAT, NM_004543.4:c.2173G>T, NM_004543.4:c.19097_19098delTT, NM_004543.4:c.19836+1_19836+2insATGGA, NM_004543.4:c.18825+1370C>T, NM_004543.4:c.5567G>A, NM_004543.4:c.6105_6106insT, NM_004543.4:c.16842+1G>A, NM_004543.4:c.843T>G, NM_004543.4:c.8031_8041delAAATAAACGAG, NM_004543.4:c.14182_14183delGCinsAA, NM_004543.4:c.15973C>T |
| NEFL | Charcot-Marie-Tooth disease type 1F | NM_006158.3 | NM_006158.3:c.418G>T, NM_006158.3:c.628G>T, NM_006158.3:c.361G>T |
| NEUROG3 | Diarrhea type 4, malabsorptive, congenital | NM_020999.3 | NM_020999.3:c.319C>A, NM_020999.3:c.278G>T |
| NHP2 | Dyskeratosis congenita type 2, autosomal recessive | NM_017838.3 | NM_017838.3:c.415T>C, NM_017838.3:c.460T>A, NM_017838.3:c.289_290delAT |
| NMNAT1 | Leber congenital amaurosis type 9 | NM_022787.3 | NM_022787.3:c.451G>T, NM_022787.3:c.25G>A, NM_022787.3:c.457C>G, NM_022787.3:c.507G>A, NM_022787.3:c.710G>T, NM_022787.3:c.619C>T, NM_022787.3:c.769G>A |
| NOP10 | Dyskeratosis congenita type 1, autosomal recessive | NM_018648.3 | NM_018648.3:c.34G>C, NM_018648.3:c.100C>T |
| NPC1 | Niemann-Pick disease type C1 | NM_000271.4 | NM_000271.4:c.1042C>T, NM_000271.4:c.2842G>A, NM_000271.4:c.1628C>T, NM_000271.4:c.2974G>T, NM_000271.4:c.3019C>G, NM_000271.4:c.1211G>A, NM_000271.4:c.2072C>T, NM_000271.4:c.2324A>C, NM_000271.4:c.337T>C, NM_000271.4:c.3107C>T, NM_000271.4:c.530G>A, NM_000271.4:c.743G>T, NM_000271.4:c.3611_3614delTTAC, NM_000271.4:c.813_815delCAT, NM_000271.4:c.2932C>T, NM_000271.4:c.3425T>C, NM_000271.4:c.2761C>T, NM_000271.4:c.3104C>T, NM_000271.4:c.3662delT, NM_000271.4:c.2972_2973delAG, NM_000271.4:c.2974G>A, NM_000271.4:c.2873G>A, NM_000271.4:c.352_353delAG, NM_000271.4:c.3182T>C, NM_000271.4:c.3467A>G, NM_000271.4:c.3175C>T, NM_000271.4:c.2861C>T, NM_000271.4:c.2848G>A |
| NPC2 | Niemann-Pick disease type C2 | NM_006432.3 | NM_006432.3:c.115G>A, NM_006432.3:c.190+5G>A, NM_006432.3:c.27delG, NM_006432.3:c.352G>T, NM_006432.3:c.58G>T, NM_006432.3:c.358C>T, NM_006432.3:c.295T>C, NM_006432.3:c.441+1G>A, NM_006432.3:c.436C>T |
| NPHP1 | Nephronophthisis type 1 | NM_000272.3 | NM_000272.3:c.80T>A, NM_000272.3:c.1delA, NM_000272.3:c.555_556insA, NM_000272.3:c.829C>T, NM_000272.3:c.455C>G, NM_000272.3:c.1884+1G>T, NM_000272.3:c.1184dupC |
| NPHP3 | Nephronophthisis type 3 | NM_153240.4 | NM_153240.4:c.1817G>A, NM_153240.4:c.434_437delAAAG, NM_153240.4:c.1119-2A>G, NM_153240.4:c.1729C>T, NM_153240.4:c.2694-2A>G, NM_153240.4:c.1985+5G>A, NM_153240.4:c.3406C>T, NM_153240.4:c.3373C>T, NM_153240.4:c.1381G>T, NM_153240.4:c.2694-2_2694-1delAG, NM_153240.4:c.1157A>G, NM_153240.4:c.2369T>C, NM_153240.4:c.3550G>A, NM_153240.4:c.2541delG, NM_153240.4:c.2570+1G>T, NM_153240.4:c.3156_3157insA, NM_153240.4:c.3662C>T |
| NPHP4 | Nephronophthisis type 4 | NM_015102.4 | NM_015102.4:c.4179T>A, NM_015102.4:c.3767_3768insAA, NM_015102.4:c.3674C>T, NM_015102.4:c.556_557insT, NM_015102.4:c.2940_2944dupGCTCC, NM_015102.4:c.3231+1G>C, NM_015102.4:c.517C>T, NM_015102.4:c.2335C>T, NM_015102.4:c.2219G>A, NM_015102.4:c.7G>T, NM_015102.4:c.1972C>T, NM_015102.4:c.1120-1G>C |
| NPHS1 | Nephrotic syndrome type 1 | NM_004646.3 | NM_004646.3:c.59-5C>G, NM_004646.3:c.3109+1G>A, NM_004646.3:c.3478C>T, NM_004646.3:c.121_122delCT, NM_004646.3:c.1481delC, NM_004646.3:c.2456A>T, NM_004646.3:c.2491C>T, NM_004646.3:c.2464G>A, NM_004646.3:c.1307_1308dupAC, NM_004646.3:c.3250delG, NM_004646.3:c.3325C>T, NM_004646.3:c.2928G>T, NM_004646.3:c.3250_3251insG, NM_004646.3:c.2746G>T, NM_004646.3:c.1715G>A |
| NR0B1 | Cytomegalic congenital adrenal hypoplasia | NM_000475.4 | NM_000475.4:c.513G>A, NM_000475.4:c.591C>A, NM_000475.4:c.315G>C, NM_000475.4:c.873G>C, NM_000475.4:c.800G>C, NM_000475.4:c.788T>A, NM_000475.4:c.704G>A, NM_000475.4:c.1319A>T, NM_000475.4:c.388_389delTA, NM_000475.4:c.273C>A, NM_000475.4:c.813C>G, NM_000475.4:c.847C>T, NM_000475.4:c.1107G>A, NM_000475.4:c.890T>C, NM_000475.4:c.1316T>G |
| NR2E3 | Enhaced S-Cone Syndrome | NM_014249.3 | NM_014249.3:c.119-2A>C, NM_014249.3:c.297_298delGT, NM_014249.3:c.932G>A, NM_014249.3:c.226C>T, NM_014249.3:c.361G>A, NM_014249.3:c.227G>A, NM_014249.3:c.1034_1038delTGCAG |
| NTRK1 | Hereditary sensory and autonomic neuropathy type 4 | NM_001012331.1 | NM_001012331.1:c.1076A>G, NM_001012331.1:c.1711G>C, NM_001012331.1:c.1741A>G, NM_001012331.1:c.1908_1909insT, NM_001012331.1:c.1709delT, NM_001012331.1:c.1942C>T, NM_001012331.1:c.1852C>T, NM_001012331.1:c.1456G>A, NM_001012331.1:c.2321G>C, NM_001012331.1:c.2066C>T |
| NUP62 | Infantile striatal degeneration | NM_153719.3 | NM_153719.3:c.1172A>C |
| NYX | Night blindness, congenital stationary , type 1A, X-linked | NM_022567.2 | NM_022567.2:c.1049G>A |
| OAT | Gyrate atrophy of choroid and retina with or without ornithinemia | NM_000274.3 | NM_000274.3:c.1250C>T, NM_000274.3:c.159delC, NM_000274.3:c.1205T>C, NM_000274.3:c.901-2A>G, NM_000274.3:c.533G>A, NM_000274.3:c.1276C>T, NM_000274.3:c.824G>A, NM_000274.3:c.268C>G, NM_000274.3:c.952delG, NM_000274.3:c.994G>A, NM_000274.3:c.955C>T, NM_000274.3:c.677C>T, NM_000274.3:c.278G>T, NM_000274.3:c.627T>A, NM_000274.3:c.812G>A, NM_000274.3:c.952G>A, NM_000274.3:c.539G>C, NM_000274.3:c.596C>A |
| OCA2 | Oculocutaneous albinism type 2 | NM_000275.2 | NM_000275.2:c.1610A>G, NM_000275.2:c.1960delG, NM_000275.2:c.2359G>A, NM_000275.2:c.819_822delCTGGinsGGTC, NM_000275.2:c.2228C>T, NM_000275.2:c.1025A>G, NM_000275.2:c.1842+1G>T, NM_000275.2:c.157delA, NM_000275.2:c.1182G>A, NM_000275.2:c.1182+2T>C, NM_000275.2:c.1441G>A, NM_000275.2:c.79G>A, NM_000275.2:c.1465A>G, NM_000275.2:c.1327G>A, NM_000275.2:c.1364+1G>T |
| OCRL | Lowe syndrome | NM_000276.3 | NM_000276.3:c.2299C>T, NM_000276.3:c.909_910delAG, NM_000276.3:c.2535delA, NM_000276.3:c.2403dupA, NM_000276.3:c.1499G>A, NM_000276.3:c.2530C>T |
| OFD1 | Joubert syndrome type 10 | NM_003611.2 | NM_003611.2:c.2582dupT, NM_003611.2:c.2321_2322insT, NM_003611.2:c.277G>T |
| OFD1 | Orofaciodigital syndrome type 1 | NM_003611.2 | NM_003611.2:c.43_44delAG, NM_003611.2:c.52G>T, NM_003611.2:c.65dupA, NM_003611.2:c.221C>T, NM_003611.2:c.274T>C, NM_003611.2:c.616_617delGA, NM_003611.2:c.260A>G, NM_003611.2:c.13-10T>A, NM_003611.2:c.312+1delG, NM_003611.2:c.224A>C, NM_003611.2:c.294_312delTGGTTTGGCAAAAGAAAAG, NM_003611.2:c.62_63insT, NM_003611.2:c.275_276delCT, NM_003611.2:c.614_617delGAGA, NM_003611.2:c.225C>G, NM_003611.2:c.602delA, NM_003611.2:c.628C>T, NM_003611.2:c.653delA, NM_003611.2:c.1365_1368delACAA, NM_003611.2:c.619_624delATAGAA, NM_003611.2:c.1303A>C, NM_003611.2:c.1318delC, NM_003611.2:c.654+2_654+3delTA, NM_003611.2:c.1268_1272delAAAAC, NM_003611.2:c.1323_1326delAGAA, NM_003611.2:c.1360_1363delCTTA, NM_003611.2:c.1358T>A, NM_003611.2:c.1840delG, NM_003611.2:c.1612C>T, NM_003611.2:c.1757delG, NM_003611.2:c.1821delG, NM_003611.2:c.1319delT, NM_003611.2:c.1859_1860delCCinsG, NM_003611.2:c.2261-1G>T, NM_003611.2:c.235G>A, NM_003611.2:c.607_610delTATA, NM_003611.2:c.594_598delAAAGC, NM_003611.2:c.247C>T, NM_003611.2:c.2387+1G>C, NM_003611.2:c.290A>G, NM_003611.2:c.454C>T, NM_003611.2:c.312+2_312+7delTAAAGT, NM_003611.2:c.413-10T>G, NM_003611.2:c.2349delC, NM_003611.2:c.518-1G>A, NM_003611.2:c.1322_1326delAAGAA, NM_003611.2:c.541dupG, NM_003611.2:c.243C>G, NM_003611.2:c.241C>G |
| OPA3 | 3-methylglutaconic aciduria type 3 | NM_025136.3 | NM_025136.3:c.*24136delG, NM_025136.3:c.221delG |
| OSTM1 | Osteopetrosis type 5, autosomal recessive | NM_014028.3 | NM_014028.3:c.415_416delAG |
| OTC | Ornithine transcarbamylase deficiency | NM_000531.5 | NM_000531.5:c.119G>A, NM_000531.5:c.259G>A, NM_000531.5:c.118C>T, NM_000531.5:c.617T>G, NM_000531.5:c.646C>G, NM_000531.5:c.148G>T, NM_000531.5:c.589G>T, NM_000531.5:c.77G>A, NM_000531.5:c.829C>T, NM_000531.5:c.674C>T, NM_000531.5:c.717+2T>C, NM_000531.5:c.563G>T, NM_000531.5:c.275G>A, NM_000531.5:c.245T>G, NM_000531.5:c.460G>T, NM_000531.5:c.134T>C, NM_000531.5:c.332T>C, NM_000531.5:c.238A>G, NM_000531.5:c.421C>T |
| OTOA | Deafness type 22, autosomal recessive | NM_144672.3 | NM_144672.3:c.2301+1G>T, NM_144672.3:c.2359G>T, NM_144672.3:c.121-1G>A, NM_144672.3:c.827delT, NM_144672.3:c.1725_1726delCA |
| OTOF | Deaffness type 9, autosomal recessive | NM_194248.2 | NM_194248.2:c.149G>A, NM_194248.2:c.1867G>A, NM_194248.2:c.1669G>A, NM_194248.2:c.2381G>A, NM_194248.2:c.1498C>T, NM_194248.2:c.1544T>C, NM_194248.2:c.5473C>G, NM_194248.2:c.1150G>A, NM_194248.2:c.1778delT, NM_194248.2:c.5103+2T>A, NM_194248.2:c.227+2T>C, NM_194248.2:c.5474_5475delCC, NM_194248.2:c.5332G>A, NM_194248.2:c.584-1G>C, NM_194248.2:c.98G>A, NM_194248.2:c.2348delG, NM_194248.2:c.3032T>C, NM_194248.2:c.4559G>A, NM_194248.2:c.4491T>A, NM_194248.2:c.5816G>A, NM_194248.2:c.766-2A>G, NM_194248.2:c.2485C>T, NM_194248.2:c.2401G>T |
| PAH | Phenylketonuria | NM_000277.1 | NM_000277.1:c.1139C>T, NM_000277.1:c.1066-3C>T, NM_000277.1:c.117C>G, NM_000277.1:c.1166delC, NM_000277.1:c.1068C>A, NM_000277.1:c.1315+1G>A, NM_000277.1:c.1162G>A, NM_000277.1:c.143T>C, NM_000277.1:c.1243G>A, NM_000277.1:c.1169A>G, NM_000277.1:c.136G>A, NM_000277.1:c.1184C>A, NM_000277.1:c.194T>C, NM_000277.1:c.1199+17G>A, NM_000277.1:c.232G>A, NM_000277.1:c.1045T>C, NM_000277.1:c.1197A>T, NM_000277.1:c.441+1G>A, NM_000277.1:c.442-1G>A, NM_000277.1:c.442-5C>G, NM_000277.1:c.450_451insA, NM_000277.1:c.472C>T, NM_000277.1:c.204A>T, NM_000277.1:c.482T>C, NM_000277.1:c.250G>T, NM_000277.1:c.261C>A, NM_000277.1:c.1030G>A, NM_000277.1:c.1199+1G>A, NM_000277.1:c.1238G>C, NM_000277.1:c.1241A>G, NM_000277.1:c.673C>G, NM_000277.1:c.688G>A, NM_000277.1:c.721C>T, NM_000277.1:c.722delG, NM_000277.1:c.722G>A, NM_000277.1:c.727C>T, NM_000277.1:c.728G>A, NM_000277.1:c.733G>C, NM_000277.1:c.734T>C, NM_000277.1:c.737C>A, NM_000277.1:c.745C>T, NM_000277.1:c.1042C>G, NM_000277.1:c.638T>C, NM_000277.1:c.764T>C, NM_000277.1:c.782G>A, NM_000277.1:c.806delT, NM_000277.1:c.809G>A, NM_000277.1:c.814G>T, NM_000277.1:c.818C>T, NM_000277.1:c.823C>T, NM_000277.1:c.829T>G, NM_000277.1:c.898G>T, NM_000277.1:c.912+1G>A, NM_000277.1:c.284_286delTCA, NM_000277.1:c.754C>T, NM_000277.1:c.755G>A, NM_000277.1:c.357delC, NM_000277.1:c.1217T>C, NM_000277.1:c.1222C>T, NM_000277.1:c.157C>T, NM_000277.1:c.158G>A, NM_000277.1:c.165T>G, NM_000277.1:c.473G>A, NM_000277.1:c.490A>G, NM_000277.1:c.503delA, NM_000277.1:c.508C>G, NM_000277.1:c.533A>G, NM_000277.1:c.665A>G, NM_000277.1:c.838G>A, NM_000277.1:c.842+5G>A, NM_000277.1:c.896T>G, NM_000277.1:c.320A>G, NM_000277.1:c.441+5G>T, NM_000277.1:c.311C>A, NM_000277.1:c.527G>T, NM_000277.1:c.529G>A, NM_000277.1:c.47_48delCT, NM_000277.1:c.1208C>T, NM_000277.1:c.331C>T, NM_000277.1:c.926C>T, NM_000277.1:c.955G>T, NM_000277.1:c.926C>A, NM_000277.1:c.509+1G>A, NM_000277.1:c.1033G>T, NM_000277.1:c.611A>G, NM_000277.1:c.1066-11G>A, NM_000277.1:c.569T>C |
| PALB2 | Fanconi anemia, complementation group N | NM_024675.3 | NM_024675.3:c.1882_1890delAAGTCCTGC, NM_024675.3:c.2962C>T, NM_024675.3:c.50T>G, NM_024675.3:c.3116delA, NM_024675.3:c.3287A>G, NM_024675.3:c.3549C>G, NM_024675.3:c.3113G>A, NM_024675.3:c.2816T>G, NM_024675.3:c.1240C>T, NM_024675.3:c.557_558insA |
| PANK2 | Pantothenate kinase-associated neurodegeneration | NM_153638.2 | NM_153638.2:c.1561G>A, NM_153638.2:c.688G>A, NM_153638.2:c.790C>T, NM_153638.2:c.821_822delCT, NM_153638.2:c.1583C>T, NM_153638.2:c.1211A>T |
| PAX3 | Waardenburg syndrome type 3 | NM_181457.3 | NM_181457.3:c.268T>C, NM_181457.3:c.251C>T |
| PAX6 | Aniridia | NM_000280.4 | NM_000280.4:c.1032+3A>T, NM_000280.4:c.978_979delCA, NM_000280.4:c.949C>T, NM_000280.4:c.1124C>A, NM_000280.4:c.1032+3_1032+6delAAGT, NM_000280.4:c.917-2A>T, NM_000280.4:c.1000_1001insTGGCATATAACCT, NM_000280.4:c.891delA, NM_000280.4:c.889dupC, NM_000280.4:c.890_905delAACCAATTCCACAACC, NM_000280.4:c.921_924dupCTCC, NM_000280.4:c.888C>G, NM_000280.4:c.887dupA, NM_000280.4:c.889C>T, NM_000280.4:c.888C>A, NM_000280.4:c.868_871dupAGTT, NM_000280.4:c.847_854dupAGTCATAT, NM_000280.4:c.879dupC, NM_000280.4:c.875G>T, NM_000280.4:c.839delA, NM_000280.4:c.829C>T, NM_000280.4:c.818delA, NM_000280.4:c.844_845delCC, NM_000280.4:c.812_813delTG, NM_000280.4:c.808A>T, NM_000280.4:c.799A>T, NM_000280.4:c.818dupA, NM_000280.4:c.794G>A, NM_000280.4:c.781C>T, NM_000280.4:c.775dupT, NM_000280.4:c.795G>A, NM_000280.4:c.1031A>G, NM_000280.4:c.1016_1019delATAA, NM_000280.4:c.1017delT, NM_000280.4:c.766-1G>C, NM_000280.4:c.766-2delA, NM_000280.4:c.760_765+9delATACAGGTACCGAGA, NM_000280.4:c.765G>C, NM_000280.4:c.765G>T, NM_000280.4:c.763C>T, NM_000280.4:c.742_752delGATCTACCTGA, NM_000280.4:c.745delC, NM_000280.4:c.916+2T>G, NM_000280.4:c.847_848dupAG, NM_000280.4:c.916+1G>C, NM_000280.4:c.689delA, NM_000280.4:c.683-2A>C, NM_000280.4:c.683-5_683-4delTTinsAAC, NM_000280.4:c.683-6T>A, NM_000280.4:c.683-9C>G, NM_000280.4:c.682+2T>A, NM_000280.4:c.673delC, NM_000280.4:c.668delA, NM_000280.4:c.656_665delAAGAGCAAAT, NM_000280.4:c.661C>T, NM_000280.4:c.658G>T, NM_000280.4:c.655C>T, NM_000280.4:c.646T>C, NM_000280.4:c.642A>C, NM_000280.4:c.639_640delTA, NM_000280.4:c.640A>G, NM_000280.4:c.640A>T, NM_000280.4:c.631C>T, NM_000280.4:c.623G>A, NM_000280.4:c.622C>T, NM_000280.4:c.613C>T, NM_000280.4:c.607C>T, NM_000280.4:c.601C>T, NM_000280.4:c.595G>T, NM_000280.4:c.580G>T, NM_000280.4:c.773T>C, NM_000280.4:c.771G>A, NM_000280.4:c.770G>A, NM_000280.4:c.766-1G>A, NM_000280.4:c.535C>T, NM_000280.4:c.534G>T, NM_000280.4:c.532C>T, NM_000280.4:c.524-2A>G, NM_000280.4:c.520C>T, NM_000280.4:c.500_501delCGinsGA, NM_000280.4:c.490_500delCCGGGGACTTCinsTCGGTA, NM_000280.4:c.500C>A, NM_000280.4:c.495delG, NM_000280.4:c.491delC, NM_000280.4:c.489T>G, NM_000280.4:c.480delT, NM_000280.4:c.475delC, NM_000280.4:c.470delG, NM_000280.4:c.468G>A, NM_000280.4:c.467G>A, NM_000280.4:c.464delG, NM_000280.4:c.459dupC, NM_000280.4:c.454C>T, NM_000280.4:c.450delC, NM_000280.4:c.432dupT, NM_000280.4:c.428_431delATGA, NM_000280.4:c.406C>T, NM_000280.4:c.403C>T, NM_000280.4:c.402delG, NM_000280.4:c.397G>T, NM_000280.4:c.383G>C, NM_000280.4:c.382C>T, NM_000280.4:c.366_379delAATAAACAGAGTTC, NM_000280.4:c.377T>A, NM_000280.4:c.375_376delAG, NM_000280.4:c.370_373delAACA, NM_000280.4:c.371delA, NM_000280.4:c.362_368dupCATCAAT, NM_000280.4:c.365C>A, NM_000280.4:c.362C>T, NM_000280.4:c.361T>C, NM_000280.4:c.358-1G>A, NM_000280.4:c.358-1G>C, NM_000280.4:c.357_357+5delCGTAAG, NM_000280.4:c.357+5G>A, NM_000280.4:c.357+2dupT, NM_000280.4:c.357+1G>A, NM_000280.4:c.357+1G>C, NM_000280.4:c.357+1G>T, NM_000280.4:c.349_357delATACCAAGC, NM_000280.4:c.339_357dupCAACGATAACATACCAAGC, NM_000280.4:c.353_357dupCAAGC, NM_000280.4:c.357C>G, NM_000280.4:c.357C>A, NM_000280.4:c.343_356dupGATAACATACCAAG, NM_000280.4:c.342_355delCGATAACATACCAA, NM_000280.4:c.350_354dupTACCA, NM_000280.4:c.353C>G, NM_000280.4:c.353C>A, NM_000280.4:c.348delC, NM_000280.4:c.344delA, NM_000280.4:c.331delG, NM_000280.4:c.331dupG, NM_000280.4:c.316_326delTTACTGTCCGA, NM_000280.4:c.316_326delTTACTGTCCGAinsCCCCCCGTT, NM_000280.4:c.325_326delGAinsCAG, NM_000280.4:c.325G>T, NM_000280.4:c.317T>A, NM_000280.4:c.307C>T, NM_000280.4:c.301delG, NM_000280.4:c.300G>A, NM_000280.4:c.299G>A, NM_000280.4:c.295G>C, NM_000280.4:c.284dupC, NM_000280.4:c.277G>A, NM_000280.4:c.277G>T, NM_000280.4:c.270delT, NM_000280.4:c.265dupC, NM_000280.4:c.265C>T, NM_000280.4:c.260T>G, NM_000280.4:c.260T>A, NM_000280.4:c.251dupT, NM_000280.4:c.236_244delCGACTCCAGinsTTGTAAGCAA, NM_000280.4:c.235_238dupGCGA, NM_000280.4:c.236_237delCGinsTTTGCTTACA, NM_000280.4:c.236C>A, NM_000280.4:c.233T>C, NM_000280.4:c.215_228delGTGGTAGTAAACCG, NM_000280.4:c.222_228dupTAAACCG, NM_000280.4:c.227C>G, NM_000280.4:c.220A>G, NM_000280.4:c.218G>A, NM_000280.4:c.215dupG, NM_000280.4:c.214G>A, NM_000280.4:c.210_213delAATCinsGGTAGTACACCCAG, NM_000280.4:c.202C>T, NM_000280.4:c.199A>T, NM_000280.4:c.191G>T, NM_000280.4:c.181_189delTACGAGACTinsCA, NM_000280.4:c.184_188dupGAGAC, NM_000280.4:c.187A>C, NM_000280.4:c.183delC, NM_000280.4:c.183C>A, NM_000280.4:c.177delG, NM_000280.4:c.175delA, NM_000280.4:c.170_174delTGGGC, NM_000280.4:c.164_170delAAATTCT, NM_000280.4:c.168delT, NM_000280.4:c.167T>C, NM_000280.4:c.164A>G, NM_000280.4:c.158_159delTG, NM_000280.4:c.157G>C, NM_000280.4:c.154T>C, NM_000280.4:c.142-1_153dupGGTGTCCAACGGA, NM_000280.4:c.152G>C, NM_000280.4:c.152G>T, NM_000280.4:c.151G>A, NM_000280.4:c.146C>T, NM_000280.4:c.143T>A, NM_000280.4:c.142delG, NM_000280.4:c.142-1G>T, NM_000280.4:c.555_556delGA, NM_000280.4:c.541G>T, NM_000280.4:c.539delA, NM_000280.4:c.538C>T, NM_000280.4:c.10+5G>C, NM_000280.4:c.10+3_10+4delAAinsGC, NM_000280.4:c.4delC, NM_000280.4:c.4C>T, NM_000280.4:c.3delG, NM_000280.4:c.1_2delATinsCA, NM_000280.4:c.2T>A, NM_000280.4:c.2T>G, NM_000280.4:c.1A>G, NM_000280.4:c.917-1G>C, NM_000280.4:c.736A>T, NM_000280.4:c.916+1G>A, NM_000280.4:c.711_712delGT, NM_000280.4:c.142-99A>G, NM_000280.4:c.901C>T, NM_000280.4:c.924delC, NM_000280.4:c.1032+2T>A, NM_000280.4:c.917-1G>A, NM_000280.4:c.142-3C>G, NM_000280.4:c.142-117T>A, NM_000280.4:c.1032+1G>A, NM_000280.4:c.718C>T, NM_000280.4:c.142-2A>G |
| PC | Pyruvate carboxylase deficiency | NM_000920.3 | NM_000920.3:c.434T>C, NM_000920.3:c.1748G>T, NM_000920.3:c.496G>A |
| PCCA | Propionic acidemia type 1 | NM_000282.3 | NM_000282.3:c.1598_1601delTTGT, NM_000282.3:c.412G>A, NM_000282.3:c.1226_1227delTT, NM_000282.3:c.1891G>C, NM_000282.3:c.1899+1_1899+4delGTAA, NM_000282.3:c.1284+1G>A, NM_000282.3:c.229C>T, NM_000282.3:c.1023dupT, NM_000282.3:c.600+1G>A, NM_000282.3:c.261_262insT, NM_000282.3:c.1118T>A, NM_000282.3:c.862A>T |
| PCCB | Propionic acidemia type 2 | NM_000532.4 | NM_000532.4:c.1279_1291delGTTCCCinsAA, NM_000532.4:c.1283C>T, NM_000532.4:c.337C>T, NM_000532.4:c.1538_1540dupCCC, NM_000532.4:c.990dupT, NM_000532.4:c.1304A>G, NM_000532.4:c.1228C>T, NM_000532.4:c.1229_1230insT, NM_000532.4:c.1606A>G, NM_000532.4:c.1223_1226delTCAT, NM_000532.4:c.1490C>T, NM_000532.4:c.1534C>T, NM_000532.4:c.1173_1174insT, NM_000532.4:c.1540_1541insCCC, NM_000532.4:c.331C>T, NM_000532.4:c.683C>T, NM_000532.4:c.797G>T, NM_000532.4:c.737G>T, NM_000532.4:c.1218_1231delinsTAGAGCACAGGA, NM_000532.4:c.502G>A, NM_000532.4:c.562G>A, NM_000532.4:c.1219_1224delGGCATCinsAA |
| PCDH15 | Usher syndrome type 1F | NM_033056.3 | NM_033056.3:c.1583T>A, NM_033056.3:c.4885delA, NM_033056.3:c.4961_4962insTGAT, NM_033056.3:c.5659A>T, NM_033056.3:c.4937_4940dupTGAT, NM_033056.3:c.785G>A, NM_033056.3:c.5622_5624delAAC, NM_033056.3:c.400C>T, NM_033056.3:c.5724_5755delACGCACAAATGTTTCAGAACTTCAAACTATGT, NM_033056.3:c.4864delA, NM_033056.3:c.1737C>G, NM_033056.3:c.1021C>T, NM_033056.3:c.1088delT, NM_033056.3:c.1006C>T, NM_033056.3:c.1940C>G, NM_033056.3:c.400C>G, NM_033056.3:c.3718-2A>G, NM_033056.3:c.4548_4551dupATCT, NM_033056.3:c.7C>T, NM_033056.3:c.2645_2646delAT |
| PDE6A | Retinitis pigmentosa type 43 | NM_000440.2 | NM_000440.2:c.1683G>A, NM_000440.2:c.1113+1G>T, NM_000440.2:c.718-4_718-3insT, NM_000440.2:c.1749C>G, NM_000440.2:c.2053G>A, NM_000440.2:c.1560_1561insA, NM_000440.2:c.304C>A, NM_000440.2:c.1040C>T, NM_000440.2:c.1113+1G>A |
| PDE6B | Retinitis pigmentosa type 43 | NM_000283.3 | NM_000283.3:c.1580T>C, NM_000283.3:c.655T>C, NM_000283.3:c.1540delC, NM_000283.3:c.1572delC, NM_000283.3:c.1920+2T>C, NM_000283.3:c.1669C>T, NM_000283.3:c.892C>T |
| PDE6C | Cone dystrophy type 4 | NM_006204.3 | NM_006204.3:c.1682dupA, NM_006204.3:c.1805A>T, NM_006204.3:c.2283+1G>C, NM_006204.3:c.256_257insAG, NM_006204.3:c.1066G>T, NM_006204.3:c.881G>A, NM_006204.3:c.481-12T>A, NM_006204.3:c.1363A>G, NM_006204.3:c.2457T>A, NM_006204.3:c.826C>T, NM_006204.3:c.633G>C, NM_006204.3:c.2036+1G>T, NM_006204.3:c.85C>T, NM_006204.3:c.180_186delCCTGTGC |
| PDE6G | Retinitis pigmentosa type 57 | NM_002602.3 | NM_002602.3:c.187+1G>T |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency | NM_000284.3 | NM_000284.3:c.262C>T, NM_000284.3:c.787C>G, NM_000284.3:c.871G>A, NM_000284.3:c.773A>C |
| PDP1 | Pyruvate dehydrogenase phosphatase deficiency | NM_018444.3 | NM_018444.3:c.597_601delCTTTA, NM_018444.3:c.1606C>T, NM_018444.3:c.277G>T, NM_018444.3:c.803delC, NM_018444.3:c.669_673delTTACT, NM_018444.3:c.672_676delCTTTA, NM_018444.3:c.878delC, NM_018444.3:c.851_853delTTC |
| PDSS1 | Coenzyme Q10 deficiency, primary, type 2 | NM_014317.3 | NM_014317.3:c.319dupT, NM_014317.3:c.924T>G |
| PDSS2 | Coenzyme Q10 deficiency, primary, type 3 | NM_020381.3 | NM_020381.3:c.964C>T, NM_020381.3:c.129_130insC, NM_020381.3:c.1145C>T |
| PDX1 | Pancreatic agenesis | NM_000209.3 | NM_000209.3:c.532G>A, NM_000209.3:c.533A>G, NM_000209.3:c.492G>T |
| PDZD7 | Usher syndrome type 2C | NM_001195263.1 | NM_001195263.1:c.1543C>T, NM_001195263.1:c.166_167insC, NM_001195263.1:c.2107delA, NM_001195263.1:c.144_145insA |
| PEX1 | Peroxisome biogenesis disorder type 1A | NM_000466.2 | NM_000466.2:c.2097dupT, NM_000466.2:c.2916delA, NM_000466.2:c.1842delA, NM_000466.2:c.1991T>C, NM_000466.2:c.1239+1G>T |
| PEX1 | Peroxisome biogenesis disorder type 1B | NM_000466.2 | NM_000466.2:c.2097_2098insT, NM_000466.2:c.1952_1960dupCAGTGTGGA, NM_000466.2:c.877C>T, NM_000466.2:c.3505_3517delCAGTTGTTTTCAC, NM_000466.2:c.2528G>A |
| PEX12 | Peroxisome biogenesis disorder complementation group 6 | NM_000286.2 | NM_000286.2:c.959C>T, NM_000286.2:c.894delC, NM_000286.2:c.888_889delCT, NM_000286.2:c.538C>T, NM_000286.2:c.455_459dupGGAAA, NM_000286.2:c.771delC |
| PEX2 | Peroxisome biogenesis disorder complementation group 5 | NM_000318.2 | NM_000318.2:c.163G>A, NM_000318.2:c.789_790delCT |
| PEX26 | Peroxisome biogenesis disorder type 7 | NM_017929.5 | NM_017929.5:c.292C>T, NM_017929.5:c.254dupT, NM_017929.5:c.265G>A, NM_017929.5:c.353C>G |
| PEX5 | Peroxisome biogenesis disorder type 2 | NM_001131025.1 | NM_001131025.1:c.1578T>G, NM_001131025.1:c.1279C>T, NM_001131025.1:c.*20G>C |
| PEX7 | Rhizomelic chondrodysplasia punctata type 1 | NM_000288.3 | NM_000288.3:c.694C>T, NM_000288.3:c.649G>A, NM_000288.3:c.618G>A, NM_000288.3:c.722A>T, NM_000288.3:c.875T>A, NM_000288.3:c.653C>T, NM_000288.3:c.854A>G, NM_000288.3:c.532C>T, NM_000288.3:c.903+1G>C |
| PGM1 | Congenital disorder of glycosylation, type 1T | NM_002633.2 | NM_002633.2:c.343A>G, NM_002633.2:c.361G>C, NM_002633.2:c.1507C>T, NM_002633.2:c.300+1G>A, NM_002633.2:c.787G>T |
| PHKG2 | Glycogen storage disease type 9C | NM_000294.2 | NM_000294.2:c.958C>T, NM_000294.2:c.553C>T, NM_000294.2:c.130C>T, NM_000294.2:c.393-2A>G |
| PHYH | Refsum disease | NM_006214.3 | NM_006214.3:c.135-2A>G, NM_006214.3:c.497-2A>G, NM_006214.3:c.135-1G>C, NM_006214.3:c.805A>C, NM_006214.3:c.678+5G>T, NM_006214.3:c.823C>T, NM_006214.3:c.530A>G, NM_006214.3:c.164delT, NM_006214.3:c.678+2T>G, NM_006214.3:c.824G>A |
| PKHD1 | Polycystic kidney disease, autosomal recessive | NM_138694.3 | NM_138694.3:c.10515C>A, NM_138694.3:c.11363_11372delCTTCCCTGGA, NM_138694.3:c.10585G>C, NM_138694.3:c.107C>T, NM_138694.3:c.10452dupT, NM_138694.3:c.2452C>T, NM_138694.3:c.2747A>C, NM_138694.3:c.12027C>G, NM_138694.3:c.11284C>A, NM_138694.3:c.3367G>A, NM_138694.3:c.353delG, NM_138694.3:c.2827_2828delGA, NM_138694.3:c.2854G>A, NM_138694.3:c.1342G>C, NM_138694.3:c.1409G>A, NM_138694.3:c.11611T>C, NM_138694.3:c.3761_3762delCCinsG, NM_138694.3:c.2414C>T, NM_138694.3:c.5895_5896insA, NM_138694.3:c.5895dupA, NM_138694.3:c.6499C>T, NM_138694.3:c.664A>G, NM_138694.3:c.682A>G, NM_138694.3:c.6854G>A, NM_138694.3:c.370C>T, NM_138694.3:c.8407T>C, NM_138694.3:c.3766delC, NM_138694.3:c.3940delA, NM_138694.3:c.1486C>T, NM_138694.3:c.2341C>T, NM_138694.3:c.10219C>T, NM_138694.3:c.9107T>G, NM_138694.3:c.930delC, NM_138694.3:c.9370C>T, NM_138694.3:c.9530T>C, NM_138694.3:c.9689delA, NM_138694.3:c.982C>T, NM_138694.3:c.9866G>T, NM_138694.3:c.10036T>C, NM_138694.3:c.3229-2A>C, NM_138694.3:c.4870C>T, NM_138694.3:c.4165C>A, NM_138694.3:c.9719G>A, NM_138694.3:c.5325_5326delAG, NM_138694.3:c.5498C>T, NM_138694.3:c.8824C>T, NM_138694.3:c.85G>T, NM_138694.3:c.10412T>G, NM_138694.3:c.8518C>T, NM_138694.3:c.8408G>A, NM_138694.3:c.8317G>T, NM_138694.3:c.8870T>C |
| PKLR | Hemolytic anemia due to red cell pyruvate kinase deficiency | NM_000298.5 | NM_000298.5:c.1151C>T, NM_000298.5:c.1706G>A, NM_000298.5:c.1529G>A, NM_000298.5:c.1528C>T, NM_000298.5:c.1595G>A, NM_000298.5:c.721G>T, NM_000298.5:c.1076G>A, NM_000298.5:c.1675C>T, NM_000298.5:c.1261C>A, NM_000298.5:c.1436G>A, NM_000298.5:c.1456C>T |
| PLA2G6 | Infantile neuroaxonal dystrophy | NM_003560.2 | NM_003560.2:c.1634A>C, NM_003560.2:c.238G>A, NM_003560.2:c.1903C>T, NM_003560.2:c.109C>T, NM_003560.2:c.1612C>T, NM_003560.2:c.2370T>G, NM_003560.2:c.929T>A, NM_003560.2:c.1894C>T, NM_003560.2:c.2239C>T |
| PLCE1 | Nephrotic syndrome type 3 | NM_016341.3 | NM_016341.3:c.3346C>T, NM_016341.3:c.4808delA, NM_016341.3:c.3846delG, NM_016341.3:c.3736C>T, NM_016341.3:c.5560C>T, NM_016341.3:c.4451C>T, NM_016341.3:c.5669C>T, NM_016341.3:c.961C>T |
| PLEC | Epidermolysis bullosa simplex with muscular dystrophy | NM_000445.4 | NM_000445.4:c.6955C>T, NM_000445.4:c.9250_9251delCT, NM_000445.4:c.10971_10972delGA, NM_000445.4:c.2493+1G>C |
| PLEC | Epidermolysis bullosa simplex with pyloric atresia | NM_000445.4 | NM_000445.4:c.9085C>T, NM_000445.4:c.913C>T, NM_000445.4:c.906+1G>A, NM_000445.4:c.12043_12044insG, NM_000445.4:c.11446G>T |
| PLEKHG5 | Charcot-Marie-Tooth disease, intermediate type C | NM_020631.4 | NM_020631.4:c.440-2A>G, NM_020631.4:c.3166C>T, NM_020631.4:c.1940T>C, NM_020631.4:c.2935C>T |
| PLG | Congenital plasminogen deficiency type 1 | NM_000301.3 | NM_000301.3:c.704G>A, NM_000301.3:c.1848G>A, NM_000301.3:c.1435G>T, NM_000301.3:c.693_695delGAA, NM_000301.3:c.1120G>T, NM_000301.3:c.112A>G |
| PLOD1 | Ehlers-Danlos syndrome, type 6 | NM_000302.3 | NM_000302.3:c.955C>T, NM_000302.3:c.2032G>A, NM_000302.3:c.1533C>G, NM_000302.3:c.1836G>C, NM_000302.3:c.2008C>T, NM_000302.3:c.466+1G>A |
| PLP1 | Pelizaeus-Merzbacher disease | NM_000533.3 | NM_000533.3:c.128C>T, NM_000533.3:c.593delG, NM_000533.3:c.231_232insC, NM_000533.3:c.3G>A, NM_000533.3:c.487T>C, NM_000533.3:c.725C>T, NM_000533.3:c.737G>C, NM_000533.3:c.169G>T |
| PLP1 | Spastic paraplegia type 2, X-linked | NM_000533.3 | NM_000533.3:c.409C>T |
| PMM2 | Congenital disorders of glycosylation type 1a | NM_000303.2 | NM_000303.2:c.349G>C, NM_000303.2:c.357C>A, NM_000303.2:c.255+2T>C, NM_000303.2:c.127G>C, NM_000303.2:c.395T>C, NM_000303.2:c.415G>A, NM_000303.2:c.368G>A, NM_000303.2:c.385G>A, NM_000303.2:c.470T>C, NM_000303.2:c.484C>T, NM_000303.2:c.422G>A, NM_000303.2:c.442G>A, NM_000303.2:c.623G>C, NM_000303.2:c.647A>T, NM_000303.2:c.652C>G, NM_000303.2:c.323C>T, NM_000303.2:c.677C>G, NM_000303.2:c.691G>A, NM_000303.2:c.710C>G, NM_000303.2:c.669C>G, NM_000303.2:c.95_96delTAinsGC, NM_000303.2:c.95T>G, NM_000303.2:c.53C>G, NM_000303.2:c.710C>T, NM_000303.2:c.620T>C, NM_000303.2:c.97C>T, NM_000303.2:c.193G>T, NM_000303.2:c.338C>T, NM_000303.2:c.563A>G, NM_000303.2:c.131T>C, NM_000303.2:c.26G>A, NM_000303.2:c.109C>T, NM_000303.2:c.317A>T, NM_000303.2:c.190delT, NM_000303.2:c.256-1G>C |
| PNPO | PNPO deficiency | NM_018129.3 | NM_018129.3:c.685C>T, NM_018129.3:c.674G>A |
| POLG | Mitochondrial DNA depletion syndrome, Alpers type | NM_002693.2 | NM_002693.2:c.2617G>T, NM_002693.2:c.1120C>T, NM_002693.2:c.830A>T, NM_002693.2:c.3218C>T, NM_002693.2:c.3630dupC |
| POLG | Progressive external ophthalmoplegia | NM_002693.2 | NM_002693.2:c.1437C>G, NM_002693.2:c.2591A>G, NM_002693.2:c.1754G>A, NM_002693.2:c.1399G>A, NM_002693.2:c.1491G>C, NM_002693.2:c.3151G>C, NM_002693.2:c.803G>C, NM_002693.2:c.3286C>T, NM_002693.2:c.2794C>T, NM_002693.2:c.752C>T, NM_002693.2:c.3644-1G>A, NM_002693.2:c.1879C>T, NM_002693.2:c.2605C>T, NM_002693.2:c.911T>G, NM_002693.2:c.1760C>T, NM_002693.2:c.2542G>A, NM_002693.2:c.1550G>T, NM_002693.2:c.2557C>T, NM_002693.2:c.2207A>G, NM_002693.2:c.2243G>C, NM_002693.2:c.2209G>C |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A3 | NM_017739.3 | NM_017739.3:c.1425G>A, NM_017739.3:c.1545delC, NM_017739.3:c.1274G>C, NM_017739.3:c.1864delC, NM_017739.3:c.1411A>T, NM_017739.3:c.1469G>A, NM_017739.3:c.1539+1G>A, NM_017739.3:c.92dupA, NM_017739.3:c.1539+1G>T, NM_017739.3:c.932G>A, NM_017739.3:c.794G>A, NM_017739.3:c.880-1G>A, NM_017739.3:c.652+1G>A, NM_017739.3:c.931C>T, NM_017739.3:c.1666G>A, NM_017739.3:c.1814G>C, NM_017739.3:c.636C>T, NM_017739.3:c.187C>T |
| POMT1 | Congenital muscular dystrophy with intellectual disability type B1 | NM_007171.3 | NM_007171.3:c.598G>C, NM_007171.3:c.193G>A, NM_007171.3:c.1770G>C, NM_007171.3:c.2005G>A, NM_007171.3:c.2163C>A, NM_007171.3:c.1746G>C, NM_007171.3:c.793C>T |
| POMT1 | Walker-Warburg syndrome | NM_007171.3 | NM_007171.3:c.1540C>T, NM_007171.3:c.226G>A, NM_007171.3:c.1611C>G, NM_007171.3:c.1242-2A>G, NM_007171.3:c.907C>T, NM_007171.3:c.2163_2164insG, NM_007171.3:c.2167dupG, NM_007171.3:c.1153C>T, NM_007171.3:c.1261_1262insC, NM_007171.3:c.831C>G, NM_007171.3:c.1545C>G, NM_007171.3:c.1280_1281delAGinsTC |
| POMT2 | Congenital muscular dystrophy with intellectual disability type A2 | NM_013382.5 | NM_013382.5:c.2243G>C, NM_013382.5:c.1997A>G, NM_013382.5:c.2242T>C, NM_013382.5:c.1445G>T, NM_013382.5:c.2177G>A, NM_013382.5:c.1238G>C, NM_013382.5:c.1941G>A, NM_013382.5:c.1057G>A, NM_013382.5:c.551C>T |
| POMT2 | Walker-Warburg syndrome | NM_013382.5 | NM_013382.5:c.1726-2A>G, NM_013382.5:c.1417C>T, NM_013382.5:c.1912C>T, NM_013382.5:c.1608_1609delCA, NM_013382.5:c.1045_1052delinsG |
| POU1F1 | Pituitary hormone deficiency, combined, type 1 | NM_000306.3 | NM_000306.3:c.472G>C, NM_000306.3:c.428G>A, NM_000306.3:c.577T>C, NM_000306.3:c.514C>T, NM_000306.3:c.515G>A, NM_000306.3:c.71C>T, NM_000306.3:c.433A>T, NM_000306.3:c.715C>T, NM_000306.3:c.515G>C, NM_000306.3:c.391G>T, NM_000306.3:c.688G>A, NM_000306.3:c.793C>T, NM_000306.3:c.748G>T, NM_000306.3:c.811C>T, NM_000306.3:c.404T>G |
| POU3F4 | Deafness type 2, X-linked | NM_000307.4 | NM_000307.4:c.604A>T, NM_000307.4:c.499C>T |
| PPT1 | Neuronal ceroid-lipofuscinoses type 1 | NM_000310.3 | NM_000310.3:c.29T>A, NM_000310.3:c.223A>C, NM_000310.3:c.627+1G>T, NM_000310.3:c.169_170insA, NM_000310.3:c.451C>T, NM_000310.3:c.541G>T, NM_000310.3:c.840_841insA |
| PRCD | Retinitis pigmentosa 36 | NM_001077620.2 | NM_001077620.2:c.64C>T, NM_001077620.2:c.52C>T |
| PRKRA | Dystonia tipo 16 | NM_003690.4 | NM_003690.4:c.665C>T |
| PRODH | Hyperprolinemia type 1 | NM_016335.4 | NM_016335.4:c.865T>A, NM_016335.4:c.1331G>A |
| PROM1 | Retinitis pigmentosa type 41 | NM_006017.2 | NM_006017.2:c.1841delG, NM_006017.2:c.1354_1355insT, NM_006017.2:c.1726C>T, NM_006017.2:c.199C>T, NM_006017.2:c.2490-2A>G, NM_006017.2:c.1177_1178delAT |
| PROP1 | Pituitary hormone deficiency, combined, type 2 | NM_006261.4 | NM_006261.4:c.2T>C, NM_006261.4:c.150delA, NM_006261.4:c.349T>A, NM_006261.4:c.112_124delTCGAGTGCTCCAC, NM_006261.4:c.310delC, NM_006261.4:c.343-11C>G, NM_006261.4:c.217C>T, NM_006261.4:c.218G>A, NM_006261.4:c.373C>T, NM_006261.4:c.157delA, NM_006261.4:c.295C>T, NM_006261.4:c.469_470insT, NM_006261.4:c.301_302delAG, NM_006261.4:c.358C>T, NM_006261.4:c.247C>T, NM_006261.4:c.263T>C, NM_006261.4:c.4delG |
| PRPS1 | Charcot-Marie-Tooth disease type 5, X-linked recessive | NM_002764.3 | NM_002764.3:c.344T>C |
| PRPS1 | Deafness, X-linked | NM_002764.3 | NM_002764.3:c.916G>A, NM_002764.3:c.869T>C |
| PRPS1 | Phosphoribosylpyrophosphate synthetase superactivity | NM_002764.3 | NM_002764.3:c.398A>C, NM_002764.3:c.455T>C |
| PRPS1 | Sensorineural deafness, nonsyndromic, X-linked | NM_002764.3 | NM_002764.3:c.193G>A |
| PRX | Charcot-Marie-Tooth disease type 4F | NM_181882.2 | NM_181882.2:c.2553_2556delTCTC, NM_181882.2:c.1362delA, NM_181882.2:c.1951G>A, NM_181882.2:c.3208C>T, NM_181882.2:c.2145T>A, NM_181882.2:c.2098delG |
| PRX | Dejerine-Sottas syndrome (PRX) | NM_181882.2 | NM_181882.2:c.247delC, NM_181882.2:c.1102C>T, NM_181882.2:c.2857C>T |
| PSAP | Atypical Gaucher disease due to saposin C deficiency | NM_002778.2 | NM_002778.2:c.643A>C, NM_002778.2:c.607C>T, NM_002778.2:c.1A>T, NM_002778.2:c.1046T>C, NM_002778.2:c.1288C>T |
| PSAT1 | Phosphoserine aminotransferase deficiency | NM_058179.3 | NM_058179.3:c.1029_1030delCT, NM_058179.3:c.299A>C |
| PYGM | McArdle disease | NM_005609.2 | NM_005609.2:c.1628A>C, NM_005609.2:c.1466C>G, NM_005609.2:c.1094C>T, NM_005609.2:c.1827G>A, NM_005609.2:c.13_14delCT, NM_005609.2:c.1A>G, NM_005609.2:c.2009C>T, NM_005609.2:c.2128_2130delTTC, NM_005609.2:c.393delG, NM_005609.2:c.2392T>C, NM_005609.2:c.148C>T, NM_005609.2:c.1621G>T, NM_005609.2:c.613G>A, NM_005609.2:c.1963G>A, NM_005609.2:c.2262delA, NM_005609.2:c.1722T>G, NM_005609.2:c.255C>A, NM_005609.2:c.280C>T, NM_005609.2:c.1768+1G>A, NM_005609.2:c.501dupT, NM_005609.2:c.481C>T, NM_005609.2:c.1726C>T |
| RAB23 | Carpenter syndrome | NM_183227.2 | NM_183227.2:c.407dupC, NM_183227.2:c.434T>A |
| RAB27A | Griscelli syndrome, type 2 | NM_004580.4 | NM_004580.4:c.259G>C, NM_004580.4:c.382dupA, NM_004580.4:c.217T>G, NM_004580.4:c.352C>T, NM_004580.4:c.389T>C, NM_004580.4:c.454G>C |
| RAB3GAP1 | Warburg micro syndrome type 1 | NM_012233.2 | NM_012233.2:c.1734G>A, NM_012233.2:c.496_497delTT, NM_012233.2:c.937dupA, NM_012233.2:c.1393_1396delTGTA, NM_012233.2:c.1410C>A, NM_012233.2:c.899+1G>A, NM_012233.2:c.2011C>T, NM_012233.2:c.748+1G>A |
| RAB3GAP2 | Warburg micro syndrome type 2 | NM_012414.3 | NM_012414.3:c.1648C>T, NM_012414.3:c.1485C>A, NM_012414.3:c.325_328delAAAG, NM_012414.3:c.1276C>T |
| RAD51C | Fanconi anemia, complementation group O | NM_058216.2 | NM_058216.2:c.706-2A>G, NM_058216.2:c.838-2A>T, NM_058216.2:c.133G>A, NM_058216.2:c.773G>A |
| RAG1 | Immunodeficiency severe combined B cell-negative | NM_000448.2 | NM_000448.2:c.2333G>A, NM_000448.2:c.2320G>T, NM_000448.2:c.2164G>A, NM_000448.2:c.940C>T, NM_000448.2:c.2814T>G, NM_000448.2:c.2923C>T, NM_000448.2:c.2326C>T |
| RAG1 | Omenn syndrome | NM_000448.2 | NM_000448.2:c.983G>A, NM_000448.2:c.3016A>G, NM_000448.2:c.256_257delAA, NM_000448.2:c.1682G>A, NM_000448.2:c.1681C>T |
| RAG2 | Combined immunodeficiency with skin granulomas | NM_000536.3 | NM_000536.3:c.115A>G, NM_000536.3:c.686G>A, NM_000536.3:c.283G>A, NM_000536.3:c.601C>T, NM_000536.3:c.230C>A, NM_000536.3:c.1352G>C |
| RAG2 | Omenn syndrome | NM_000536.3 | NM_000536.3:c.685C>T, NM_000536.3:c.1504A>G |
| RAPSN | Congenital myasthenic syndrome | NM_005055.4 | NM_005055.4:c.484G>A, NM_005055.4:c.264C>A, NM_005055.4:c.807C>A, NM_005055.4:c.848T>C, NM_005055.4:c.490C>T, NM_005055.4:c.603C>A |
| RAPSN | Fetal akinesia deformation sequence | NM_005055.4 | NM_005055.4:c.416T>C, NM_005055.4:c.566C>T |
| RAX | Isolated microphthalmia type 3 | NM_013435.2 | NM_013435.2:c.909C>G, NM_013435.2:c.18C>A, NM_013435.2:c.197G>C, NM_013435.2:c.439C>T, NM_013435.2:c.383_384delAG |
| RDH12 | Leber congenital amaurosis type 13 | NM_152443.2 | NM_152443.2:c.184C>T, NM_152443.2:c.146C>T, NM_152443.2:c.152T>A, NM_152443.2:c.451C>A, NM_152443.2:c.295C>A, NM_152443.2:c.377C>T, NM_152443.2:c.379G>T, NM_152443.2:c.565C>T, NM_152443.2:c.677A>G, NM_152443.2:c.805_809delGCCCT, NM_152443.2:c.164C>T, NM_152443.2:c.210dupC, NM_152443.2:c.448+1_448+4delGTAA, NM_152443.2:c.451C>G, NM_152443.2:c.464C>T, NM_152443.2:c.523T>C |
| RDX | Deafness type 24, autosomal recessive | NM_002906.3 | NM_002906.3:c.1405dupG, NM_002906.3:c.342_346delGATAT |
| RELN | Lissencephaly syndrome, Norman-Roberts type | NM_005045.3 | NM_005045.3:c.6646C>T, NM_005045.3:c.5615-1G>A |
| REN | Renal tubular dysgenesis | NM_000537.3 | NM_000537.3:c.404C>A, NM_000537.3:c.127C>T, NM_000537.3:c.145C>T |
| RGR | Retinitis pigmentosa type 44 | NM_001012720.1 | NM_001012720.1:c.196A>C, NM_001012720.1:c.249_250insGGCTCGGA, NM_001012720.1:c.261_262insGGCTCGGA, NM_001012720.1:c.454C>A, NM_001012720.1:c.865C>T, NM_001012720.1:c.877C>T |
| RHO | Retinitis pigmentosa type 4 | NM_000539.3 | NM_000539.3:c.152G>C, NM_000539.3:c.173C>T, NM_000539.3:c.448G>A, NM_000539.3:c.620T>G, NM_000539.3:c.670G>A, NM_000539.3:c.745G>T, NM_000539.3:c.659T>G |
| RLBP1 | Retinitis punctata albescens | NM_000326.4 | NM_000326.4:c.333T>G, NM_000326.4:c.452G>A, NM_000326.4:c.700C>T, NM_000326.4:c.875C>T |
| RP2 | Retinitis pigmentosa type 2 | NM_006915.2 | NM_006915.2:c.235delG, NM_006915.2:c.305_306insT, NM_006915.2:c.352delC, NM_006915.2:c.353G>A, NM_006915.2:c.353G>T, NM_006915.2:c.358C>T, NM_006915.2:c.453C>G, NM_006915.2:c.453delC, NM_006915.2:c.631delC |
| RPE65 | Leber congenital amaurosis type 2 | NM_000329.2 | NM_000329.2:c.1067delA, NM_000329.2:c.1301C>T, NM_000329.2:c.1292A>G, NM_000329.2:c.272G>A, NM_000329.2:c.907A>T, NM_000329.2:c.514_515delGT |
| RPE65 | Retinitis pigmentosa type 20 | NM_000329.2 | NM_000329.2:c.1022T>C, NM_000329.2:c.1087C>A, NM_000329.2:c.1102T>C, NM_000329.2:c.271C>T, NM_000329.2:c.1355T>G, NM_000329.2:c.1543C>T, NM_000329.2:c.394G>A, NM_000329.2:c.881A>C |
| RPGR | Retinitis pigmentosa type 3 | NM_001034853.1 | NM_001034853.1:c.155-2A>G, NM_001034853.1:c.173_174insA, NM_001034853.1:c.179G>T, NM_001034853.1:c.296C>A, NM_001034853.1:c.389T>G, NM_001034853.1:c.505G>T, NM_001034853.1:c.517G>C, NM_001034853.1:c.642_656delTGGAGAACCTGAGAAinsC, NM_001034853.1:c.654_655delGA, NM_001034853.1:c.674_675delCC, NM_001034853.1:c.703C>T, NM_001034853.1:c.806G>A, NM_001034853.1:c.823G>A, NM_001034853.1:c.846_847delAA |
| RPGRIP1L | Joubert syndrome type 7 | NM_015272.2 | NM_015272.2:c.1177G>A, NM_015272.2:c.1326_1329delAAAA, NM_015272.2:c.1329_1330insA, NM_015272.2:c.1843A>C, NM_015272.2:c.1975T>C, NM_015272.2:c.2030C>T, NM_015272.2:c.2050C>T, NM_015272.2:c.2413C>T, NM_015272.2:c.757C>T, NM_015272.2:c.3548C>G, NM_015272.2:c.697A>T, NM_015272.2:c.3634_3637delGAAA, NM_015272.2:c.776+1G>A, NM_015272.2:c.2794_2795delTT |
| RPGRIP1L | Meckel syndrome type 5 | NM_015272.2 | NM_015272.2:c.394A>T, NM_015272.2:c.3706C>T, NM_015272.2:c.2614C>T |
| RYR1 | Central core disease | NM_000540.2 | NM_000540.2:c.1021G>A, NM_000540.2:c.10343C>T, NM_000540.2:c.10579C>T, NM_000540.2:c.10616G>A, NM_000540.2:c.11798A>G, NM_000540.2:c.1205T>C, NM_000540.2:c.13480G>T, NM_000540.2:c.13513G>C, NM_000540.2:c.14365-2A>T, NM_000540.2:c.14511+1_14511+2delGT, NM_000540.2:c.14545G>A, NM_000540.2:c.1739_1742dupATCA, NM_000540.2:c.1841G>T, NM_000540.2:c.325C>T, NM_000540.2:c.4076delG, NM_000540.2:c.4178A>G, NM_000540.2:c.4405C>T, NM_000540.2:c.487C>T, NM_000540.2:c.5036G>A, NM_000540.2:c.5333C>A, NM_000540.2:c.5726_5727delAG, NM_000540.2:c.6082C>T, NM_000540.2:c.6104A>T, NM_000540.2:c.631+2T>C, NM_000540.2:c.6961A>G, NM_000540.2:c.7025A>G, NM_000540.2:c.7268T>A, NM_000540.2:c.7300G>A, NM_000540.2:c.7360C>T, NM_000540.2:c.7373G>A, NM_000540.2:c.738T>G, NM_000540.2:c.7463_7475delCAAAGATGTCAGC, NM_000540.2:c.9000+1G>T, NM_000540.2:c.14126C>T, NM_000540.2:c.1655G>A, NM_000540.2:c.4729G>A, NM_000540.2:c.7781C>A, NM_000540.2:c.7836-1G>A, NM_000540.2:c.8360C>G, NM_000540.2:c.9868G>A, NM_000540.2:c.9905_9906insC, NM_000540.2:c.1186G>T, NM_000540.2:c.6721C>T |
| SACS | Spastic ataxia, Charlevoix-Saguenay type | NM_014363.5 | NM_014363.5:c.10907G>A, NM_014363.5:c.10954C>A, NM_014363.5:c.11624G>A, NM_014363.5:c.12160C>T, NM_014363.5:c.517C>T, NM_014363.5:c.6355C>T, NM_014363.5:c.6781C>A, NM_014363.5:c.7504C>T, NM_014363.5:c.8107C>T, NM_014363.5:c.8844delT, NM_014363.5:c.994A>T, NM_014363.5:c.13237C>T, NM_014363.5:c.3198T>A, NM_014363.5:c.4933C>T, NM_014363.5:c.5618_5619delAT, NM_014363.5:c.6563T>A |
| SAG | Oguchi disease | NM_000541.4 | NM_000541.4:c.293_294insG, NM_000541.4:c.523C>T, NM_000541.4:c.577C>T, NM_000541.4:c.874C>T, NM_000541.4:c.916G>T, NM_000541.4:c.926delA, NM_000541.4:c.993C>G |
| SBDS | Shwachman-Diamond syndrome | NM_016038.2 | NM_016038.2:c.120delG, NM_016038.2:c.127G>T, NM_016038.2:c.183_184delTAinsCT, NM_016038.2:c.184A>T, NM_016038.2:c.377G>C, NM_016038.2:c.505C>T, NM_016038.2:c.652C>T, NM_016038.2:c.258+2T>C |
| SBF2 | Charcot-Marie-Tooth disease type 4B2 | NM_030962.3 | NM_030962.3:c.1459C>T, NM_030962.3:c.2875C>T, NM_030962.3:c.3586C>T, NM_030962.3:c.3154A>T, NM_030962.3:c.5539_5540insATCT |
| SC5D | Lathosterolosis | NM_006918.4 | NM_006918.4:c.86G>A |
| SCNN1A | Pseudohypoaldosteronism, type 1 | NM_001038.5 | NM_001038.5:c.1305delC, NM_001038.5:c.1482delC, NM_001038.5:c.1522C>T, NM_001038.5:c.1765C>T, NM_001038.5:c.1834C>T, NM_001038.5:c.203_204delTC, NM_001038.5:c.340G>A |
| SCNN1B | Pseudohypoaldosteronism, type 1 | NM_000336.2 | NM_000336.2:c.109G>A |
| SCNN1G | Pseudohypoaldosteronism, type 1 | NM_001039.3 | NM_001039.3:c.1373+2T>C, NM_001039.3:c.1570-1G>A, NM_001039.3:c.1627delG, NM_001039.3:c.598_599insA |
| SEMA4A | Retinitis pigmentosa type 35 | NM_022367.3 | NM_022367.3:c.1033G>C, NM_022367.3:c.1049T>G |
| SEPN1 | Muscular dystrophy, rigid spine, type 1 | NM_020451.2 | NM_020451.2:c.1315C>T, NM_020451.2:c.818G>A, NM_020451.2:c.883G>A, NM_020451.2:c.943G>A, NM_020451.2:c.943G>C, NM_020451.2:c.1384T>G, NM_020451.2:c.713_714insA, NM_020451.2:c.871C>T |
| SERPINA1 | Alpha1-antitrypsin deficiency | NM_000295.4 | NM_000295.4:c.1177C>T, NM_000295.4:c.187C>T, NM_000295.4:c.194T>C, NM_000295.4:c.230C>T, NM_000295.4:c.250G>A, NM_000295.4:c.272G>A, NM_000295.4:c.347T>A, NM_000295.4:c.415G>A, NM_000295.4:c.514G>A, NM_000295.4:c.514G>T, NM_000295.4:c.739C>T, NM_000295.4:c.839A>T, NM_000295.4:c.1093G>A, NM_000295.4:c.848A>T |
| SETX | Spinocerebellar ataxia with axonal neuropathy type 2 | NM_015046.5 | NM_015046.5:c.1027G>T, NM_015046.5:c.1166T>C, NM_015046.5:c.1807A>G, NM_015046.5:c.2602C>T, NM_015046.5:c.3880C>T, NM_015046.5:c.4087C>T, NM_015046.5:c.5630delG, NM_015046.5:c.5927T>G, NM_015046.5:c.6848_6851delCAGA, NM_015046.5:c.994C>T, NM_015046.5:c.5308_5311delGAGA, NM_015046.5:c.5549-1G>T, NM_015046.5:c.6834_6839delAACAAA |
| SGCA | Limb-girdle muscular dystrophy type 2D | NM_000023.2 | NM_000023.2:c.101G>A, NM_000023.2:c.229C>T, NM_000023.2:c.371T>C, NM_000023.2:c.518T>C, NM_000023.2:c.574C>T, NM_000023.2:c.850C>T, NM_000023.2:c.662G>A, NM_000023.2:c.739G>A, NM_000023.2:c.904_905insCC |
| SGCB | Muscular dystrophy, limb-girdle, type 2E | NM_000232.4 | NM_000232.4:c.272G>C, NM_000232.4:c.272G>T, NM_000232.4:c.299T>A, NM_000232.4:c.323T>G, NM_000232.4:c.341C>T, NM_000232.4:c.452C>G, NM_000232.4:c.552T>G |
| SGCG | Limb-girdle muscular dystrophy type 2C | NM_000231.2 | NM_000231.2:c.195+4_195+7delAGTA, NM_000231.2:c.505+1G>A, NM_000231.2:c.787G>A, NM_000231.2:c.848G>A, NM_000231.2:c.88delG, NM_000231.2:c.521delT |
| SGSH | Mucopolysaccharidosis type 3A (Sanfilippo disease type A) | NM_000199.3 | NM_000199.3:c.1167C>A, NM_000199.3:c.1298G>A, NM_000199.3:c.130G>A, NM_000199.3:c.1339G>A, NM_000199.3:c.1380delT, NM_000199.3:c.197C>G, NM_000199.3:c.220C>T, NM_000199.3:c.235A>C, NM_000199.3:c.320delT, NM_000199.3:c.337_345delinsGCACAGGTGAG, NM_000199.3:c.364G>A, NM_000199.3:c.383C>T, NM_000199.3:c.416C>T, NM_000199.3:c.449G>A, NM_000199.3:c.466A>T, NM_000199.3:c.617G>C, NM_000199.3:c.752G>C, NM_000199.3:c.757delG, NM_000199.3:c.877C>T, NM_000199.3:c.892T>C |
| SH2D1A | Lymphoproliferative syndrome type 1, X-linked | NM_002351.4 | NM_002351.4:c.163C>T, NM_002351.4:c.164G>T, NM_002351.4:c.172C>T, NM_002351.4:c.203C>T, NM_002351.4:c.302C>T, NM_002351.4:c.3G>T, NM_002351.4:c.95G>C |
| SH3TC2 | Charcot-Marie-Tooth disease type 4C | NM_024577.3 | NM_024577.3:c.1586G>A, NM_024577.3:c.1747_1748delAG, NM_024577.3:c.1969G>A, NM_024577.3:c.1972C>T, NM_024577.3:c.1982T>C, NM_024577.3:c.217_227delGCTGCTCGGAGinsCCAGTAA, NM_024577.3:c.2191delG, NM_024577.3:c.2491_2492delAG, NM_024577.3:c.2710C>T, NM_024577.3:c.2829T>G, NM_024577.3:c.2860C>T, NM_024577.3:c.28delG, NM_024577.3:c.2993_2994insC, NM_024577.3:c.3325C>T, NM_024577.3:c.3326G>C, NM_024577.3:c.3341delC, NM_024577.3:c.3601C>T, NM_024577.3:c.3686A>T, NM_024577.3:c.505T>C, NM_024577.3:c.52+1delG, NM_024577.3:c.530-2A>G, NM_024577.3:c.735G>A, NM_024577.3:c.920G>A, NM_024577.3:c.3676-1G>A, NM_024577.3:c.1724T>A, NM_024577.3:c.53-1G>C |
| SIL1 | Marinesco-Sjögren syndrome | NM_022464.4 | NM_022464.4:c.1312C>T, NM_022464.4:c.274C>T, NM_022464.4:c.331C>T |
| SIX6 | Anophthalmia or microphthalmia, isolated | NM_007374.2 | NM_007374.2:c.493A>G, NM_007374.2:c.532_536delAACCG, NM_007374.2:c.635C>T, NM_007374.2:c.725G>T |
| SLC12A1 | Bartter syndrome type 1 | NM_000338.2 | NM_000338.2:c.1875G>A, NM_000338.2:c.1942G>A, NM_000338.2:c.2805_2806insA, NM_000338.2:c.347G>A, NM_000338.2:c.611T>C, NM_000338.2:c.628+2T>C, NM_000338.2:c.814G>T, NM_000338.2:c.223C>T, NM_000338.2:c.2952_2955delCAAA |
| SLC12A6 | Agenesis of the corpus callosum with neuropathy | NM_133647.1 | NM_133647.1:c.1584_1585delCTinsG, NM_133647.1:c.2023C>T, NM_133647.1:c.3031C>T, NM_133647.1:c.619C>T, NM_133647.1:c.316+1G>A, NM_133647.1:c.366T>G |
| SLC17A5 | Sialic acid storage disease | NM_012434.4 | NM_012434.4:c.115C>T, NM_012434.4:c.406A>G, NM_012434.4:c.43G>T, NM_012434.4:c.918T>G, NM_012434.4:c.1259+1G>A, NM_012434.4:c.500T>C |
| SLC24A1 | Night blindness, congenital stationary type 1D | NM_004727.2 | NM_004727.2:c.1963C>T |
| SLC25A13 | Citrullinemia type 2 | NM_014251.2 | NM_014251.2:c.1078C>T, NM_014251.2:c.1177+1G>A, NM_014251.2:c.1311+1G>A, NM_014251.2:c.1592G>A, NM_014251.2:c.1799dupA, NM_014251.2:c.1801G>A, NM_014251.2:c.1801G>T, NM_014251.2:c.1813C>T, NM_014251.2:c.615+1G>C, NM_014251.2:c.615+5G>A, NM_014251.2:c.674C>A, NM_014251.2:c.674C>T, NM_014251.2:c.852_855delTATG, NM_014251.2:c.1231-1G>A, NM_014251.2:c.1411_1412delCT |
| SLC25A15 | Hyperornithinemia - hyperammonemia - homocitrullinuria syndrome | NM_014252.3 | NM_014252.3:c.110T>G, NM_014252.3:c.212T>A, NM_014252.3:c.535C>T, NM_014252.3:c.538G>A, NM_014252.3:c.562_564delTTC, NM_014252.3:c.569G>A, NM_014252.3:c.658G>A, NM_014252.3:c.815C>T, NM_014252.3:c.824G>A, NM_014252.3:c.44C>T |
| SLC25A22 | Epileptic encephalopathy, early infantile, type 3 | NM_024698.5 | NM_024698.5:c.617C>T, NM_024698.5:c.706G>T |
| SLC26A2 | Achondrogenesis type 1B | NM_000112.3 | NM_000112.3:c.1020_1022delTGT, NM_000112.3:c.1273A>G, NM_000112.3:c.532C>T, NM_000112.3:c.2033G>T |
| SLC26A2 | Atelosteogenesis type 2 | NM_000112.3 | NM_000112.3:c.1535C>A, NM_000112.3:c.835C>T |
| SLC26A2 | Diastrophic dysplasia | NM_000112.3 | NM_000112.3:c.1724delA, NM_000112.3:c.1878delG, NM_000112.3:c.1361A>C, NM_000112.3:c.767T>C, NM_000112.3:c.833delC, NM_000112.3:c.496G>A, NM_000112.3:c.1957T>A |
| SLC26A4 | Deafness type 4, autosomal recessive | NM_000441.1 | NM_000441.1:c.1001G>T, NM_000441.1:c.1034T>A, NM_000441.1:c.2162C>T, NM_000441.1:c.1975G>C, NM_000441.1:c.1174A>T, NM_000441.1:c.2131G>A, NM_000441.1:c.1454C>T, NM_000441.1:c.1468A>C, NM_000441.1:c.2211G>C, NM_000441.1:c.269C>T, NM_000441.1:c.916dupG, NM_000441.1:c.281C>T, NM_000441.1:c.1634T>G, NM_000441.1:c.1707+5G>A, NM_000441.1:c.1489G>A, NM_000441.1:c.961A>T, NM_000441.1:c.2048T>C, NM_000441.1:c.898A>C, NM_000441.1:c.918+2T>C, NM_000441.1:c.1001+1G>T, NM_000441.1:c.970A>T, NM_000441.1:c.563T>C |
| SLC26A4 | Pendred syndrome | NM_000441.1 | NM_000441.1:c.1246A>C, NM_000441.1:c.1826T>G, NM_000441.1:c.1229C>T, NM_000441.1:c.1263+1G>A, NM_000441.1:c.1061T>C, NM_000441.1:c.1790T>C, NM_000441.1:c.2168A>G, NM_000441.1:c.1151A>G, NM_000441.1:c.1226G>A, NM_000441.1:c.1003T>C, NM_000441.1:c.919-2A>G, NM_000441.1:c.554G>C, NM_000441.1:c.626G>T, NM_000441.1:c.1334T>G, NM_000441.1:c.1198delT, NM_000441.1:c.412G>T, NM_000441.1:c.707T>C |
| SLC26A5 | Deafness type 61, autosomal recessive | NM_198999.2 | NM_198999.2:c.209G>A, NM_198999.2:c.390A>C, NM_198999.2:c.152+1G>A, NM_198999.2:c.1A>G |
| SLC35A1 | Congenital disorder of glycosylation type 2F | NM_006416.4 | NM_006416.4:c.277_280delGTGCinsTG |
| SLC35C1 | Congenital disorder of glycosylation 2c | NM_018389.4 | NM_018389.4:c.439C>T, NM_018389.4:c.91G>T, NM_018389.4:c.923C>G, NM_018389.4:c.290dupG, NM_018389.4:c.503_505delTCT |
| SLC35D1 | Schneckenbecken dysplasia | NM_015139.2 | NM_015139.2:c.319C>T, NM_015139.2:c.932G>A |
| SLC37A4 | Glycogen storage disease types 1b, 1c and 1d | NM_001164278.1 | NM_001164278.1:c.1042_1043delCT, NM_001164278.1:c.1081G>T, NM_001164278.1:c.1082G>A, NM_001164278.1:c.1108_1109delCT, NM_001164278.1:c.1129G>T, NM_001164278.1:c.1190-2_1190-1delAG, NM_001164278.1:c.1309C>T, NM_001164278.1:c.287G>A, NM_001164278.1:c.352T>C, NM_001164278.1:c.593A>T, NM_001164278.1:c.706_708delGTG, NM_001164278.1:c.83G>A, NM_001164278.1:c.899G>A |
| SLC45A2 | Albinism, oculocutaneous, type 4 | NM_016180.3 | NM_016180.3:c.1121delT, NM_016180.3:c.469G>A, NM_016180.3:c.986delC |
| SLC4A11 | Congenital hereditary endothelial dystrophy type 2 | NM_032034.3 | NM_032034.3:c.1038_1039insA, NM_032034.3:c.1391G>A, NM_032034.3:c.2318C>T, NM_032034.3:c.1466C>T, NM_032034.3:c.1813C>T, NM_032034.3:c.2264G>A, NM_032034.3:c.2605C>T, NM_032034.3:c.2399C>T, NM_032034.3:c.554_561delGCTTCGCC, NM_032034.3:c.2606G>A |
| SLC4A11 | Corneal dystrophy and perceptive deafness | NM_032034.3 | NM_032034.3:c.2528T>C, NM_032034.3:c.1463G>A, NM_032034.3:c.473_480delGCTTCGCC, NM_032034.3:c.2566A>G, NM_032034.3:c.637T>C, NM_032034.3:c.625C>T, NM_032034.3:c.2224G>A, NM_032034.3:c.2240_2240+1insTATGACAC |
| SLC6A8 | Cerebral creatine deficiency syndrome type 1 | NM_005629.3 | NM_005629.3:c.1011C>G, NM_005629.3:c.1141G>C, NM_005629.3:c.1222_1224delTTC, NM_005629.3:c.1540C>T, NM_005629.3:c.321_323delCTT, NM_005629.3:c.395G>T |
| SLX4 | Fanconi anemia, complementation group P | NM_032444.2 | NM_032444.2:c.1093delC, NM_032444.2:c.286delA, NM_032444.2:c.4921_4922insG, NM_032444.2:c.5097_5098delTC, NM_032444.2:c.5408_5409insAC, NM_032444.2:c.4739+1G>T, NM_032444.2:c.2808_2809delAG |
| SMN1 | Spinal muscular atrophy | - | del ex7, del ex7-8, del ex8 (Detection by MLPA) |
| SMPD1 | Niemann-Pick disease | NM_000543.4 | NM_000543.4:c.103_118delCTGGTGCTGGCGCTGG, NM_000543.4:c.103_119delCTGGTGCTGGCGCTGGC, NM_000543.4:c.103_107delCTGGT, NM_000543.4:c.103_113delCTGGTGCTGGCGinsCTGGTG, NM_000543.4:c.1092-1G>C, NM_000543.4:c.1117C>T, NM_000543.4:c.106delG, NM_000543.4:c.108_124delGCTGGCGCTGGCGCTGGC, NM_000543.4:c.1267C>T, NM_000543.4:c.1299T>G, NM_000543.4:c.1327C>T, NM_000543.4:c.1420_1421delCT, NM_000543.4:c.1426C>T, NM_000543.4:c.1624C>T, NM_000543.4:c.1630delA, NM_000543.4:c.1805G>A, NM_000543.4:c.354delC, NM_000543.4:c.475T>C, NM_000543.4:c.551C>T, NM_000543.4:c.557C>T, NM_000543.4:c.558_559insC, NM_000543.4:c.558_574delGCCCCCCAAACCCCCTA, NM_000543.4:c.564delC, NM_000543.4:c.573delT, NM_000543.4:c.689G>A, NM_000543.4:c.730G>A, NM_000543.4:c.739G>A, NM_000543.4:c.740delG, NM_000543.4:c.742G>A, NM_000543.4:c.757G>C, NM_000543.4:c.785_807delTGTTGAGTGGGCTGGGCCCAGCC, NM_000543.4:c.788T>A, NM_000543.4:c.842_849dupTCCCCGCA, NM_000543.4:c.911T>C, NM_000543.4:c.940G>A, NM_000543.4:c.96G>A, NM_000543.4:c.996delC, NM_000543.4:c.688C>T, NM_000543.4:c.995C>G, NM_000543.4:c.1829_1831delGCC, NM_000543.4:c.1264-1G>T, NM_000543.4:c.1152G>A |
| SNAI2 | Waardenburg syndrome type 2 | NM_003068.4 | NM_003068.4:c.357C>A |
| SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | NM_004782.3 | NM_004782.3:c.487dupA |
| SPG11 | Spastic paraplegia type 11 | NM_025137.3 | NM_025137.3:c.118C>T, NM_025137.3:c.529_533delATATT, NM_025137.3:c.5623C>T, NM_025137.3:c.1339_1342dupGGCT, NM_025137.3:c.342delT, NM_025137.3:c.7152-1G>C, NM_025137.3:c.733_734delAT, NM_025137.3:c.6805_6806delCT, NM_025137.3:c.1736-1G>C, NM_025137.3:c.6100C>T, NM_025137.3:c.6848_6849insTC |
| SPG20 | Spastic paraplegia type 20, autosomal recessive | NM_015087.4 | NM_015087.4:c.1110delA, NM_015087.4:c.364_365delAT |
| SPG7 | Spastic paraplegia type 7 | NM_003119.3 | NM_003119.3:c.1457G>A, NM_003119.3:c.1529C>T, NM_003119.3:c.2075G>C, NM_003119.3:c.233T>A, NM_003119.3:c.1676delA, NM_003119.3:c.1749G>C, NM_003119.3:c.773_774delTG, NM_003119.3:c.1045G>A, NM_003119.3:c.1124delG, NM_003119.3:c.679C>T, NM_003119.3:c.758+2T>C, NM_003119.3:c.286+1G>T |
| STAR | Lipoid adrenal hyperplasia | NM_000349.2 | NM_000349.2:c.545G>T, NM_000349.2:c.559G>A, NM_000349.2:c.545G>A, NM_000349.2:c.749G>A, NM_000349.2:c.772C>T, NM_000349.2:c.562C>T, NM_000349.2:c.577C>T |
| STIL | Microcephaly primary, type 7, autosomal recessive | NM_003035.2 | NM_003035.2:c.3655delG, NM_003035.2:c.3715C>T, NM_003035.2:c.3843_3846delACAG, NM_003035.2:c.2392T>G, NM_003035.2:c.2826+1G>A |
| STRA6 | Syndromic microphthalmia type 9 | NM_022369.3 | NM_022369.3:c.1678G>C, NM_022369.3:c.1699C>T, NM_022369.3:c.147delC, NM_022369.3:c.1521-1G>A, NM_022369.3:c.1964G>A, NM_022369.3:c.277_278insCC, NM_022369.3:c.1931C>T, NM_022369.3:c.1963C>T, NM_022369.3:c.69G>A, NM_022369.3:c.878C>T, NM_022369.3:c.910_911delGGinsAA, NM_022369.3:c.52_53delTAinsC, NM_022369.3:c.527_528insG |
| STRC | Deafness type 16, autosomal recessive | NM_153700.2 | NM_153700.2:c.4561_4562insC, NM_153700.2:c.5188C>T, NM_153700.2:c.3556C>T, NM_153700.2:c.5168_5171delTTCT, NM_153700.2:c.5185C>T, NM_153700.2:c.4545+1G>C |
| SUCLG1 | Fatal infantile lactic acidosis with methylmalonic aciduria | NM_003849.3 | NM_003849.3:c.152_153delAT, NM_003849.3:c.626C>A |
| SUOX | Sulfocysteinuria | NM_000456.2 | NM_000456.2:c.37C>T, NM_000456.2:c.894_895delCT, NM_000456.2:c.650G>A, NM_000456.2:c.794C>A |
| TAF1 | Dystonia-Parkinsonism, X-linked | NM_004606.4 | NM_004606.4:c.417_418insCATAATCTATGATAATGATAAT |
| TAT | Tyrosinemia type 2 | NM_000353.2 | NM_000353.2:c.1249C>T, NM_000353.2:c.236-5A>G, NM_000353.2:c.668C>G, NM_000353.2:c.1297C>T, NM_000353.2:c.169C>T |
| TBCE | Hypoparathyroidism-retardation-dysmorphism syndrome | NM_003193.4 | NM_003193.4:c.1491_1492insGTAAA |
| TCAP | Cardiomyopathy, hypertrophic, type 25 | NM_003673.3 | NM_003673.3:c.260G>A, NM_003673.3:c.316C>T |
| TCAP | Limb-girdle muscular dystrophy type 2G | NM_003673.3 | NM_003673.3:c.157C>T |
| TCIRG1 | Osteopetrosis type 1, autosomal recessive | NM_006019.3 | NM_006019.3:c.1331G>T, NM_006019.3:c.1674-1G>A, NM_006019.3:c.179A>G, NM_006019.3:c.2236+1G>A, NM_006019.3:c.2415-3C>G, NM_006019.3:c.112_113delAG, NM_006019.3:c.1213G>A |
| TECTA | Deafness type 21, autosomal recessive | NM_005422.2 | NM_005422.2:c.2428C>T, NM_005422.2:c.2941+1G>A, NM_005422.2:c.651_652insC, NM_005422.2:c.4370_4371insTCAGTGCGACCCGC, NM_005422.2:c.4601G>A |
| TERT | Dyskeratosis congenita, autosomal recessive | NM_198253.2 | NM_198253.2:c.1234C>T, NM_198253.2:c.835G>A, NM_198253.2:c.2701C>T, NM_198253.2:c.2431C>T |
| TFR2 | Hemochromatosis, type 3 | NM_003227.3 | NM_003227.3:c.1330G>A, NM_003227.3:c.1403G>A, NM_003227.3:c.1469T>G, NM_003227.3:c.1235_1237delACA, NM_003227.3:c.1861_1872delGCCGTGGCCCAG, NM_003227.3:c.2343G>A, NM_003227.3:c.313C>T, NM_003227.3:c.1665delC, NM_003227.3:c.750C>G, NM_003227.3:c.840C>G, NM_003227.3:c.949C>T, NM_003227.3:c.515T>A, NM_003227.3:c.1632_1633delGA, NM_003227.3:c.2014C>T, NM_003227.3:c.2374G>A, NM_003227.3:c.1473+1G>A, NM_003227.3:c.1186C>T |
| TH | Segawa syndrome, autosomal recessive | NM_000360.3 | NM_000360.3:c.1141C>A, NM_000360.3:c.614T>C, NM_000360.3:c.733A>C, NM_000360.3:c.1388C>T, NM_000360.3:c.605G>A, NM_000360.3:c.917G>A |
| TIMM8A | Mohr-Tranebjaerg syndrome | NM_004085.3 | NM_004085.3:c.198C>G, NM_004085.3:c.238C>T, NM_004085.3:c.112C>T |
| TK2 | Mitochondrial DNA depletion syndrome type 2 | NM_004614.4 | NM_004614.4:c.323C>T, NM_004614.4:c.361C>A, NM_004614.4:c.373C>T, NM_004614.4:c.500G>A, NM_004614.4:c.604_606delAAG, NM_004614.4:c.635T>A, NM_004614.4:c.623A>G, NM_004614.4:c.159C>G, NM_004614.4:c.268C>T |
| TMC1 | Deafness type 7, autosomal recessive | NM_138691.2 | NM_138691.2:c.1763+3A>G, NM_138691.2:c.1842G>A, NM_138691.2:c.100C>T, NM_138691.2:c.1165C>T, NM_138691.2:c.425G>A, NM_138691.2:c.454-1G>C, NM_138691.2:c.1960A>G |
| TMEM216 | Joubert syndrome type 2 | NM_001173990.2 | NM_001173990.2:c.218G>T, NM_001173990.2:c.218G>A, NM_001173990.2:c.79_82delAACG |
| TMEM216 | Meckel syndrome type 2 | NM_001173990.2 | NM_001173990.2:c.230G>C, NM_001173990.2:c.253C>T, NM_001173990.2:c.341T>G |
| TMEM67 | COACH syndrome | NM_153704.5 | NM_153704.5:c.1769T>C, NM_153704.5:c.2498T>C |
| TMEM67 | Joubert syndrome type 6 | NM_153704.5 | NM_153704.5:c.130C>T, NM_153704.5:c.148_149insTAAT, NM_153704.5:c.1538A>G |
| TMEM67 | Meckel syndrome type 3 | NM_153704.5 | NM_153704.5:c.1309C>G, NM_153704.5:c.755T>C, NM_153704.5:c.1046T>C, NM_153704.5:c.653G>C, NM_153704.5:c.406+1402_406+1403insTAAT, NM_153704.5:c.622A>T |
| TMIE | Deafness type 6, autosomal recessive | NM_147196.2 | NM_147196.2:c.241C>T, NM_147196.2:c.250C>T, NM_147196.2:c.170G>A, NM_147196.2:c.257G>A |
| TMPRSS3 | Deafness types 8/10, autosomal recessive | NM_024022.2 | NM_024022.2:c.1211C>T, NM_024022.2:c.1276G>A, NM_024022.2:c.1159G>A, NM_024022.2:c.413C>A, NM_024022.2:c.446+1G>T, NM_024022.2:c.647G>T, NM_024022.2:c.753G>C, NM_024022.2:c.646C>T, NM_024022.2:c.208delC, NM_024022.2:c.242C>G |
| TNNT1 | Nemaline myopathy type 5 | NM_003283.5 | NM_003283.5:c.538G>T |
| TPP1 | Neuronal ceroid-lipofuscinoses type 2 | NM_000391.3 | NM_000391.3:c.1093T>C, NM_000391.3:c.616C>T, NM_000391.3:c.622C>T, NM_000391.3:c.1340G>A, NM_000391.3:c.141_144delGAGT, NM_000391.3:c.827A>T, NM_000391.3:c.509-1G>C, NM_000391.3:c.851G>T |
| TPRN | Deafness type 79, autosomal recessive | NM_001128228.2 | NM_001128228.2:c.1427delC, NM_001128228.2:c.1239G>A |
| TREX1 | Aicardi-Goutieres syndrome type 1 | NM_033629.4 | NM_033629.4:c.341G>A, NM_033629.4:c.144_145insC, NM_033629.4:c.490C>T, NM_033629.4:c.506G>A |
| TRIM32 | Limb-girdle muscular dystrophy type 2H | NM_012210.3 | NM_012210.3:c.1459G>A, NM_012210.3:c.1560delC |
| TRIM37 | Mulibrey nanism | NM_015294.3 | NM_015294.3:c.1346_1347insA, NM_015294.3:c.1411C>T, NM_015294.3:c.1037_1040dupAGAT, NM_015294.3:c.2056C>T, NM_015294.3:c.2212delG, NM_015294.3:c.227T>C, NM_015294.3:c.326G>C, NM_015294.3:c.496_500delAGGAA, NM_015294.3:c.745C>T, NM_015294.3:c.965G>T, NM_015294.3:c.1478_1479delAG, NM_015294.3:c.1668-1G>C |
| TRIOBP | Deafness type 28, autosomal recessive | NM_001039141.2 | NM_001039141.2:c.2362C>T, NM_001039141.2:c.3194delT, NM_001039141.2:c.1039C>T, NM_001039141.2:c.1741C>T, NM_001039141.2:c.4577C>G, NM_001039141.2:c.2639_2640insTCAC, NM_001039141.2:c.5316G>A, NM_001039141.2:c.3202C>T, NM_001039141.2:c.4429_4430insG |
| TSEN54 | Pontocerebellar hypoplasia | NM_207346.2 | NM_207346.2:c.670_671delAA, NM_207346.2:c.736C>T, NM_207346.2:c.1027C>T, NM_207346.2:c.1039A>T, NM_207346.2:c.887G>A, NM_207346.2:c.919G>T |
| TSFM | Combined oxidative phosphorylation deficiency type 3 | NM_001172696.1 | NM_001172696.1:c.1_2delAT, NM_001172696.1:c.580delC, NM_001172696.1:c.919C>T, NM_001172696.1:c.21_22delGC |
| TSHB | Isolated thyroid-stimulating hormone deficiency | NM_000549.4 | NM_000549.4:c.94G>T, NM_000549.4:c.205C>T, NM_000549.4:c.145G>A |
| TSHR | Hypothyroidism | NM_000369.2 | NM_000369.2:c.100G>A, NM_000369.2:c.1170T>G, NM_000369.2:c.484C>G, NM_000369.2:c.500T>A, NM_000369.2:c.122G>C, NM_000369.2:c.326G>A, NM_000369.2:c.1741_1742insC, NM_000369.2:c.202C>T |
| TTN | Cardiomyopathy, dilated/Tibial muscular dystrophy | NM_133378.4 | NM_133378.4:c.13149C>A, NM_133378.4:c.22246G>A, NM_133378.4:c.31780G>A, NM_133378.4:c.40211dupT, NM_133378.4:c.44668delG, NM_133378.4:c.52977dupT, NM_133378.4:c.61640C>G, NM_133378.4:c.84669_84675delTGAATTC, NM_133378.4:c.94567C>T, NM_133378.4:c.96388C>T, NM_133378.4:c.96388delC, NM_133378.4:c.98366_98367delAT, NM_133378.4:c.12064C>T, NM_133378.4:c.28739-1G>A, NM_133378.4:c.3165-1G>T, NM_133378.4:c.4724_4728delTGAAA, NM_133378.4:c.48944-1G>A, NM_133378.4:c.91114_91117delTCCA, NM_133378.4:c.100185delA, NM_133378.4:c.40549delA, NM_133378.4:c.24568_24571delAGCA |
| TTPA | Ataxia with vitamin E deficiency | NM_000370.3 | NM_000370.3:c.661C>T, NM_000370.3:c.744delA, NM_000370.3:c.575G>A |
| TULP1 | Leber congenital amaurosis type 15 | NM_003322.4 | NM_003322.4:c.1198C>T, NM_003322.4:c.1204G>T |
| TULP1 | Retinitis pigmentosa type 14 | NM_003322.4 | NM_003322.4:c.1259G>C, NM_003322.4:c.1318C>T, NM_003322.4:c.1471T>C, NM_003322.4:c.1511_1521delTGCAGTTCGGC, NM_003322.4:c.1376T>A, NM_003322.4:c.1444C>T |
| TYR | Oculocutaneous albinism type 1 | NM_000372.4 | NM_000372.4:c.1012_1013insC, NM_000372.4:c.1146C>A, NM_000372.4:c.1164delT, NM_000372.4:c.1177delG, NM_000372.4:c.1147G>A, NM_000372.4:c.115T>G, NM_000372.4:c.1255G>A, NM_000372.4:c.1265G>A, NM_000372.4:c.1209G>T, NM_000372.4:c.1217C>T, NM_000372.4:c.140G>A, NM_000372.4:c.1467dupT, NM_000372.4:c.1501dupC, NM_000372.4:c.164G>A, NM_000372.4:c.1A>G, NM_000372.4:c.230G>A, NM_000372.4:c.242C>T, NM_000372.4:c.265T>C, NM_000372.4:c.272G>A, NM_000372.4:c.286dupA, NM_000372.4:c.533G>A, NM_000372.4:c.1336G>A, NM_000372.4:c.1342G>A, NM_000372.4:c.646T>A, NM_000372.4:c.650G>A, NM_000372.4:c.823G>T, NM_000372.4:c.896G>A, NM_000372.4:c.1111A>G, NM_000372.4:c.1118C>A, NM_000372.4:c.325G>A, NM_000372.4:c.572delG, NM_000372.4:c.616G>A |
| TYRP1 | Oculocutaneous albinism type 3 | NM_000550.2 | NM_000550.2:c.107delT, NM_000550.2:c.1103delA, NM_000550.2:c.1057_1060delAACA, NM_000550.2:c.1067G>A, NM_000550.2:c.1557T>G, NM_000550.2:c.176C>G, NM_000550.2:c.497C>G, NM_000550.2:c.1120C>T, NM_000550.2:c.1369_1370insCAGA |
| UBA1 | Spinal muscular atrophy type 2, X-linked | NM_003334.3 | NM_003334.3:c.1731C>T |
| UBR1 | Johanson-Blizzard syndrome | NM_174916.2 | NM_174916.2:c.869C>G, NM_174916.2:c.4254G>A, NM_174916.2:c.1281+1G>T, NM_174916.2:c.1537C>T |
| UGT1A1 | Crigler-Najjar syndrome type 1 | NM_000463.2 | NM_000463.2:c.1021C>T, NM_000463.2:c.1070A>G |
| UGT1A1 | Crigler-Najjar syndrome type 2 | NM_000463.2 | NM_000463.2:c.1207C>T, NM_000463.2:c.674T>G, NM_000463.2:c.1130G>T, NM_000463.2:c.524T>A, NM_000463.2:c.44T>G |
| UGT1A1 | Gilbert syndrome | NM_000463.2 | NM_000463.2:c.1211T>C, NM_000463.2:c.1456T>G |
| UQCRB | Mitochondrial complex III deficiency, nuclear type 3 | NM_006294.4 | NM_006294.4:c.306_309delAAAA |
| UQCRQ | Mitochondrial complex III deficiency, nuclear type 4 | NM_014402.4 | NM_014402.4:c.134C>T |
| USH1C | Usher syndrome type 1C | NM_153676.3 | NM_153676.3:c.216G>A, NM_153676.3:c.2362G>A, NM_153676.3:c.2622_2623delCA, NM_153676.3:c.2688_2695dupAATTCACC, NM_153676.3:c.238_239insC, NM_153676.3:c.238delC, NM_153676.3:c.2547-1G>T, NM_153676.3:c.2695_2696insAATTCACC, NM_153676.3:c.388G>A |
| USH1G | Usher syndrome type 1G | NM_173477.4 | NM_173477.4:c.186_187delCA, NM_173477.4:c.394_395insG, NM_173477.4:c.832_851delTCGGACGAGGACAGCGTCTC, NM_173477.4:c.649C>T, NM_173477.4:c.805C>T |
| USH2A | Retinitis pigmentosa type 39 | NM_206933.2 | NM_206933.2:c.10073G>A, NM_206933.2:c.2296T>C, NM_206933.2:c.14519T>C, NM_206933.2:c.7364G>A, NM_206933.2:c.12574C>T, NM_206933.2:c.2276G>T |
| USH2A | Usher syndrome type 2A | NM_206933.2 | NM_206933.2:c.10636G>A, NM_206933.2:c.10561T>C, NM_206933.2:c.15371delT, NM_206933.2:c.2167+5G>A, NM_206933.2:c.11864G>A, NM_206933.2:c.14803C>T, NM_206933.2:c.2898delG, NM_206933.2:c.3491_3492delCT, NM_206933.2:c.11549-5_11549-4insT, NM_206933.2:c.2299delG, NM_206933.2:c.5975A>G, NM_206933.2:c.6670G>T, NM_206933.2:c.6862G>T, NM_206933.2:c.5743_5744delAG, NM_206933.2:c.779T>G, NM_206933.2:c.820C>T, NM_206933.2:c.8981G>A, NM_206933.2:c.956G>A, NM_206933.2:c.9799T>C, NM_206933.2:c.15089C>A, NM_206933.2:c.2135delC, NM_206933.2:c.4338_4339delCT, NM_206933.2:c.5573-2A>G, NM_206933.2:c.920_923dupGCCA, NM_206933.2:c.13709delG, NM_206933.2:c.14926G>A, NM_206933.2:c.15520-1G>A, NM_206933.2:c.8431C>A, NM_206933.2:c.12234_12235delGA, NM_206933.2:c.14442C>A |
| VDR | Rickets, vitamin D-resistant, type 2A | NM_001017535.1 | NM_001017535.1:c.137G>A, NM_001017535.1:c.149G>A, NM_001017535.1:c.885C>A, NM_001017535.1:c.88C>T, NM_001017535.1:c.239G>A, NM_001017535.1:c.821G>T, NM_001017535.1:c.88C>G, NM_001017535.1:c.915C>G, NM_001017535.1:c.985G>A |
| VLDLR | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1 | NM_003383.3 | NM_003383.3:c.2339delT, NM_003383.3:c.2302_2303delGA, NM_003383.3:c.844C>T, NM_003383.3:c.769C>T |
| VPS13A | Choreoacanthocytosis | NM_033305.2 | NM_033305.2:c.622C>T, NM_033305.2:c.9109C>T, NM_033305.2:c.2898T>G, NM_033305.2:c.3091delG, NM_033305.2:c.9275+1G>T |
| VPS33B | Arthrogryposis-renal dysfunction-cholestasis type 1 | NM_018668.4 | NM_018668.4:c.1246C>T, NM_018668.4:c.1312C>T, NM_018668.4:c.1498G>A, NM_018668.4:c.440_449delCTCTTGATGT, NM_018668.4:c.1594C>T, NM_018668.4:c.1480-1G>T, NM_018668.4:c.603+2T>A |
| WAS | Neutropenia, severe congenital, X-linked | NM_000377.2 | NM_000377.2:c.881T>C, NM_000377.2:c.809T>C, NM_000377.2:c.814T>C |
| WAS | Thrombocytopaenia type 1 | NM_000377.2 | NM_000377.2:c.167C>T, NM_000377.2:c.173C>G, NM_000377.2:c.1442T>A |
| WAS | Wiskott-Aldrich syndrome | NM_000377.2 | NM_000377.2:c.134C>T |
| WDR62 | Microcephaly primary, type 2, autosomal recessive | NM_001083961.1 | NM_001083961.1:c.1313G>A, NM_001083961.1:c.3514+1delG, NM_001083961.1:c.3574delA, NM_001083961.1:c.1408C>T, NM_001083961.1:c.193G>A, NM_001083961.1:c.702dupG, NM_001083961.1:c.671G>C, NM_001083961.1:c.557G>A |
| WFS1 | Wolfram syndrome | NM_006005.3 | NM_006005.3:c.1234_1237delGTCT, NM_006005.3:c.1511C>T, NM_006005.3:c.2168T>C, NM_006005.3:c.2171C>T, NM_006005.3:c.1944G>A, NM_006005.3:c.2084G>T, NM_006005.3:c.577A>C, NM_006005.3:c.676C>T, NM_006005.3:c.2327A>T, NM_006005.3:c.407_408insGGGCCGTCGCGAGGCT, NM_006005.3:c.2576G>A, NM_006005.3:c.2643_2644delCT, NM_006005.3:c.616C>T, NM_006005.3:c.1060_1062delTTC, NM_006005.3:c.400G>A, NM_006005.3:c.1943G>A, NM_006005.3:c.1230_1233delCTCT |
| WNT10A | Hypohidrotic ectodermal dysplasia, autosomal recessive | NM_025216.2 | NM_025216.2:c.347T>C, NM_025216.2:c.383G>A, NM_025216.2:c.321C>A |
| WNT10A | Odontoonychodermal dysplasia | NM_025216.2 | NM_025216.2:c.697G>T |
| WNT7A | Fuhrmann syndrome | NM_004625.3 | NM_004625.3:c.874C>T |
| WNT7A | Ulna and fibula, absence of, with sever limb deficiency | NM_004625.3 | NM_004625.3:c.325G>A |
| XPA | Xeroderma pigmentosum Group A | NM_000380.3 | NM_000380.3:c.323G>T, NM_000380.3:c.619C>T, NM_000380.3:c.727C>T, NM_000380.3:c.731A>G, NM_000380.3:c.348T>A, NM_000380.3:c.501delG |
| ZFYVE26 | Spastic paraplegia type 15, autosomal recessive | NM_015346.3 | NM_015346.3:c.3206G>A, NM_015346.3:c.3642_3643insCCACACTTAG, NM_015346.3:c.1477C>T, NM_015346.3:c.2887G>C, NM_015346.3:c.5422C>T, NM_015346.3:c.5485-1G>A, NM_015346.3:c.4312C>T, NM_015346.3:c.4936C>T, NM_015346.3:c.3182delT, NM_015346.3:c.2114_2115insC |
| ZMPSTE24 | Mandibuloacral dysplasia with type B lipodystrophy | NM_005857.4 | NM_005857.4:c.121C>T, NM_005857.4:c.1263dupT, NM_005857.4:c.1018T>C, NM_005857.4:c.955-1G>A, NM_005857.4:c.1349G>A |
| ZMPSTE24 | Restrictive dermopathy, lethal | NM_005857.4 | NM_005857.4:c.1076_1077insT, NM_005857.4:c.54dupT, NM_005857.4:c.1085_1086insT |
| ZNF469 | Brittle cornea syndrome | NM_001127464.1 | NM_001127464.1:c.6673delC, NM_001127464.1:c.11452_11453insC, NM_001127464.1:c.4174G>T |
| Gene | Disease | Transcript | Mutations |
|---|---|---|---|
| ABCA4 | Stargardt disease type 1; Cone-rod dystrophy type 3 | NM_000350.2 | NM_000350.2:c.6449G>A, NM_000350.2:c.6394G>T, NM_000350.2:c.6320G>A, NM_000350.2:c.6118C>T, NM_000350.2:c.6089G>A, NM_000350.2:c.5912T>G, NM_000350.2:c.5882G>A, NM_000350.2:c.5881G>A, NM_000350.2:c.5819T>C, NM_000350.2:c.5714+5G>A, NM_000350.2:c.5512delC, NM_000350.2:c.5461-10T>C, NM_000350.2:c.5338C>G, NM_000350.2:c.4793C>A, NM_000350.2:c.4469G>A, NM_000350.2:c.4457C>T, NM_000350.2:c.4429C>T, NM_000350.2:c.4139C>T, NM_000350.2:c.3970delG, NM_000350.2:c.3364G>A, NM_000350.2:c.3322C>T, NM_000350.2:c.3210_3211dupGT, NM_000350.2:c.3106G>A, NM_000350.2:c.3083C>T, NM_000350.2:c.2791G>A, NM_000350.2:c.2616_2617delCT, NM_000350.2:c.2588G>C, NM_000350.2:c.2300T>A, NM_000350.2:c.2160+1G>T, NM_000350.2:c.1964T>G, NM_000350.2:c.1938-1G>A, NM_000350.2:c.1848delA, NM_000350.2:c.1804C>T, NM_000350.2:c.1771delT, NM_000350.2:c.1755delA, NM_000350.2:c.1622T>C, NM_000350.2:c.1225delA, NM_000350.2:c.1222C>T, NM_000350.2:c.1018T>G, NM_000350.2:c.763C>T, NM_000350.2:c.634C>T, NM_000350.2:c.286A>G, NM_000350.2:c.67-2A>G, NM_000350.2:c.52C>T |
| ABCB7 | X-linked sideroblastic anemia and ataxia (XLSA/A) | NM_004299.4 | NM_004299.4:c.1300G>A, NM_004299.4:c.1234G>C, NM_004299.4:c.1203T>G |
| ACAD9 | Mitochondrial complex I deficiency due to ACAD9 | NM_014049.4 | NM_014049.4:c.23delT, NM_014049.4:c.130T>A, NM_014049.4:c.359delT, NM_014049.4:c.453+1G>A, NM_014049.4:c.797G>A, NM_014049.4:c.976G>C, NM_014049.4:c.1240C>T, NM_014049.4:c.1249C>T, NM_014049.4:c.1594C>T |
| ACADM | Medium-chain acyl-CoA dehydrogenase deficiency | NM_001286043.1 | NM_001286043.1:c.250C>T, NM_001286043.1:c.386-2A>G, NM_001286043.1:c.461C>T, NM_001286043.1:c.548_551delCTGA, NM_001286043.1:c.546G>A, NM_001286043.1:c.715C>T, NM_001286043.1:c.716G>A, NM_001286043.1:c.833C>T, NM_001286043.1:c.896A>G, NM_001286043.1:c.898G>A, NM_001286043.1:c.916_928delGCAATGGGAGCTT, NM_001286043.1:c.1083delG, NM_001286043.1:c.1084A>G, NM_001286043.1:c.1201_1204delTTAG |
| ACADS | Short-chain acyl-CoA dehydrogenase deficiency | NM_000017.3 | NM_000017.3:c.136C>T, NM_000017.3:c.319C>T, NM_000017.3:c.417G>C, NM_000017.3:c.529T>C, NM_000017.3:c.561_568delCAATGCCT, NM_000017.3:c.1095G>T, NM_000017.3:c.1147C>T |
| ACADSB | Short/branched-chain acyl-CoA dehydrogenase deficiency | NM_001609.3 | NM_001609.3:c.303+1G>A, NM_001609.3:c.443C>T, NM_001609.3:c.621G>A, NM_001609.3:c.763C>T |
| ACADVL | Very long-chain acyl-CoA dehydrogenase deficiency | NM_001270447.1 | NM_001270447.1:c.347-1G>A, NM_001270447.1:c.367_368delCA, NM_001270447.1:c.412delG, NM_001270447.1:c.469C>T, NM_001270447.1:c.546+1G>C, NM_001270447.1:c.589G>A, NM_001270447.1:c.754C>T, NM_001270447.1:c.822-2A>C, NM_001270447.1:c.917T>C, NM_001270447.1:c.965_967delAGA, NM_001270447.1:c.1165C>T, NM_001270447.1:c.1166G>A, NM_001270447.1:c.1175T>C, NM_001270447.1:c.1210_1212delGAG, NM_001270447.1:c.1251+1G>A, NM_001270447.1:c.1426C>T, NM_001270447.1:c.1444dupC, NM_001270447.1:c.1458dupG, NM_001270447.1:c.1475G>A, NM_001270447.1:c.1537G>C, NM_001270447.1:c.1601+1G>A, NM_001270447.1:c.1906C>T, NM_001270447.1:c.1912C>T, NM_001270447.1:c.1951delC |
| ACAT1 | Alpha-methylacetoacetic aciduria | NM_000019.3 | NM_000019.3:c.2T>A, NM_000019.3:c.412_419delCAAAGTCT, NM_000019.3:c.547G>A, NM_000019.3:c.622C>T, NM_000019.3:c.905delA, NM_000019.3:c.1035_1037delAGA, NM_000019.3:c.1083dupA, NM_000019.3:c.1136G>T, NM_000019.3:c.1138G>A |
| ACE | Renal tubular dysgenesis | NM_000789.3 | NM_000789.3:c.798C>G, NM_000789.3:c.1319_1322delTGGA, NM_000789.3:c.1486C>T, NM_000789.3:c.1511delC, NM_000789.3:c.1587-2A>G, NM_000789.3:c.2371C>T |
| ACOX1 | Peroxisomal acyl-CoA oxidase deficiency | NM_004035.6 | NM_004035.6:c.832A>G, NM_004035.6:c.591delG, NM_004035.6:c.532G>T |
| ADA | Adenosine deaminase deficiency / Severe combined immunodeficiency due to ADA deficiency | NM_000022.3 | NM_000022.3:c.986C>T, NM_000022.3:c.956_960delAAGAG, NM_000022.3:c.890C>A, NM_000022.3:c.872C>T, NM_000022.3:c.632G>A, NM_000022.3:c.320T>C |
| ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type | NM_014244.4 | NM_014244.4:c.2384G>A |
| ADAMTSL2 | Geleophysic dysplasia type 1 | NM_001145320.1 | NM_001145320.1:c.338G>A, NM_001145320.1:c.340G>A, NM_001145320.1:c.440C>T, NM_001145320.1:c.661C>T |
| ADGRV1 | Usher syndrome, type 2C | NM_032119.3 | NM_032119.3:c.2258_2270delAAGTGCTGAAATC, NM_032119.3:c.2864C>A, NM_032119.3:c.5357_5358delAA, NM_032119.3:c.6275-1G>A, NM_032119.3:c.6312dupT, NM_032119.3:c.6901C>T, NM_032119.3:c.8713_8716dupAACA, NM_032119.3:c.8790delC, NM_032119.3:c.11377G>T, NM_032119.3:c.14973-1G>C, NM_032119.3:c.15196_15199dupCAAA, NM_032119.3:c.17668_17669delAT, NM_032119.3:c.18131A>G |
| AGA | Aspartylglucosaminuria | NM_000027.3 | NM_000027.3:c.904G>A, NM_000027.3:c.800dupT, NM_000027.3:c.755G>A, NM_000027.3:c.488G>C, NM_000027.3:c.302C>T, NM_000027.3:c.214T>C |
| AGL | Glycogen storage disease type 3 | NM_000028.2 | NM_000028.2:c.16C>T, NM_000028.2:c.18_19delGA, NM_000028.2:c.294-2A>T, NM_000028.2:c.1222C>T, NM_000028.2:c.1485delT, NM_000028.2:c.1783C>T, NM_000028.2:c.1999delC, NM_000028.2:c.2039G>A, NM_000028.2:c.2590C>T, NM_000028.2:c.3216_3217delGA, NM_000028.2:c.3980G>A, NM_000028.2:c.4260-12A>G, NM_000028.2:c.4260-1G>T, NM_000028.2:c.4342G>C, NM_000028.2:c.4456delT, NM_000028.2:c.4529dupA |
| AGPS | Rhizomelic chondrodysplasia punctata, type 3 | NM_003659.3 | NM_003659.3:c.926C>T, NM_003659.3:c.1256G>A, NM_003659.3:c.1406T>C, NM_003659.3:c.1703C>T |
| AGT | Renal tubular dysgenesis | NM_000029.3 | NM_000029.3:c.1290dupT, NM_000029.3:c.1290delT, NM_000029.3:c.1124G>A, NM_000029.3:c.604C>T |
| AGTR1 | Renal tubular dysgenesis | NM_004835.4 | NM_004835.4:c.215dupT, NM_004835.4:c.259dupG, NM_004835.4:c.481delC, NM_004835.4:c.481C>T |
| AGXT | Hyperoxaluria, primary, type 1 | NM_000030.2 | NM_000030.2:c.33dupC, NM_000030.2:c.121G>A, NM_000030.2:c.166-2A>G, NM_000030.2:c.245G>A, NM_000030.2:c.248A>G, NM_000030.2:c.322T>C, NM_000030.2:c.454T>A, NM_000030.2:c.466G>A, NM_000030.2:c.508G>A, NM_000030.2:c.560C>T, NM_000030.2:c.613T>C, NM_000030.2:c.697C>T, NM_000030.2:c.698G>A, NM_000030.2:c.731T>C, NM_000030.2:c.738G>A |
| AHI1 | Joubert syndrome type 3 | NM_001134830.1 | NM_001134830.1:c.3263_3264delGG, NM_001134830.1:c.2295dupA, NM_001134830.1:c.2168G>A, NM_001134830.1:c.1484G>A, NM_001134830.1:c.1303C>T, NM_001134830.1:c.1052G>T, NM_001134830.1:c.1051C>T, NM_001134830.1:c.985C>T |
| AIPL1 | Leber congenital amaurosis type 4 | NM_014336.4 | NM_014336.4:c.1053_1064delTGCAGAGCCACC, NM_014336.4:c.834G>A, NM_014336.4:c.715T>C, NM_014336.4:c.589G>C |
| ALAS2 | X-linked sideroblastic anemia, type 1 (XLSA or SIDBA1) | NM_000032.4 | NM_000032.4:c.1706_1709delAGTG, NM_000032.4:c.1699_1700delAT, NM_000032.4:c.1354C>T |
| ALDH4A1 | Hyperprolinemia, type 2 | NM_003748.3 | NM_003748.3:c.1055C>T |
| ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency | NM_170740.1 | NM_170740.1:c.612G>A, NM_170740.1:c.842G>A, NM_170740.1:c.1265G>A, NM_170740.1:c.1273C>T, NM_170740.1:c.1579C>T |
| ALDOA | Glycogen storage disease type 12 | NM_001243177.1 | NM_001243177.1:c.548A>G, NM_001243177.1:c.781G>A |
| ALDOB | Fructose intolerance, hereditary | NM_000035.3 | NM_000035.3:c.1067C>A, NM_000035.3:c.1013C>T, NM_000035.3:c.1005C>G, NM_000035.3:c.720C>A, NM_000035.3:c.612T>A, NM_000035.3:c.524C>A, NM_000035.3:c.448G>C, NM_000035.3:c.442T>C, NM_000035.3:c.360_363delCAAA, NM_000035.3:c.178C>T, NM_000035.3:c.113-1_115delGGTA, NM_000035.3:c.10C>T, NM_000035.3:c.2T>C |
| ALG1 | Congenital disorder of glycosylation, type 1k | NM_019109.4 | NM_019109.4:c.434G>A, NM_019109.4:c.450C>G, NM_019109.4:c.773C>T, NM_019109.4:c.1079C>T, NM_019109.4:c.1129A>G, NM_019109.4:c.1187+1G>A |
| ALG6 | Congenital disorder of glycosylation, type 1c | NM_013339.3 | NM_013339.3:c.316C>T, NM_013339.3:c.897_899delAAT, NM_013339.3:c.998C>T, NM_013339.3:c.1432T>C |
| ALMS1 | Alstr�m syndrome | NM_015120.4 | NM_015120.4:c.2323C>T, NM_015120.4:c.4246delC, NM_015120.4:c.5584C>T, NM_015120.4:c.8383C>T, NM_015120.4:c.9614_9618delCAGAA, NM_015120.4:c.11443C>T, NM_015120.4:c.11453dupA, NM_015120.4:c.11612_11613delCT, NM_015120.4:c.12439C>T, NM_015120.4:c.12445C>T |
| ALPL | Hypophosphatasia, childhood/infantile | NM_000478.5 | NM_000478.5:c.98C>T, NM_000478.5:c.211C>T, NM_000478.5:c.212G>C, NM_000478.5:c.323C>T, NM_000478.5:c.346G>A, NM_000478.5:c.407G>A, NM_000478.5:c.526G>A, NM_000478.5:c.535G>A, NM_000478.5:c.571G>A, NM_000478.5:c.620A>C, NM_000478.5:c.814C>T, NM_000478.5:c.881A>C, NM_000478.5:c.892G>A, NM_000478.5:c.1001G>A, NM_000478.5:c.1133A>T, NM_000478.5:c.1250A>G, NM_000478.5:c.1306T>C, NM_000478.5:c.1366G>A |
| AMT | Glycine encephalopathy | NM_000481.3 | NM_000481.3:c.959G>A, NM_000481.3:c.826G>C, NM_000481.3:c.806G>A, NM_000481.3:c.574C>T, NM_000481.3:c.259-1G>C, NM_000481.3:c.125A>G |
| ANO5 | Limb-girdle muscular dystrophy type 12 (LGMDR12; formerly LGMD2L) | NM_213599.2 | NM_213599.2:c.172C>T, NM_213599.2:c.191dupA, NM_213599.2:c.206_207delAT, NM_213599.2:c.692G>T, NM_213599.2:c.1210C>T, NM_213599.2:c.1295C>G, NM_213599.2:c.1407+5G>A, NM_213599.2:c.1627dupA, NM_213599.2:c.1733T>C, NM_213599.2:c.1887delA, NM_213599.2:c.1898+1G>A, NM_213599.2:c.1914G>A |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | NM_001195248.1 | NM_001195248.1:c.917-1G>A, NM_001195248.1:c.879G>A, NM_001195248.1:c.830T>G, NM_001195248.1:c.659C>T, NM_001195248.1:c.362delC, NM_001195248.1:c.209delT, NM_001195248.1:c.176-2A>G, NM_001195248.1:c.166C>T |
| AR | Androgen insensitivity syndrome, complete | NM_000044.3 | NM_000044.3:c.340C>T, NM_000044.3:c.1771A>T, NM_000044.3:c.2323C>T, NM_000044.3:c.2391G>A, NM_000044.3:c.2395C>G, NM_000044.3:c.2567G>A, NM_000044.3:c.2650A>T |
| ARG1 | Argininemia | NM_001244438.1 | NM_001244438.1:c.32T>C, NM_001244438.1:c.61C>T, NM_001244438.1:c.389G>A, NM_001244438.1:c.437G>T, NM_001244438.1:c.727G>C, NM_001244438.1:c.895C>T |
| ARL13B | Joubert syndrome type 8 | NM_001174150.1 | NM_001174150.1:c.246G>A, NM_001174150.1:c.598C>T, NM_001174150.1:c.1252C>T |
| ARL6 | Bardet-Biedl syndrome type 3 | NM_001323513.1 | NM_001323513.1:c.4G>T, NM_001323513.1:c.92C>G, NM_001323513.1:c.92C>T, NM_001323513.1:c.266C>T, NM_001323513.1:c.281T>C, NM_001323513.1:c.364C>T |
| ARSA | Metachromatic leukodystrophy | NM_000487.5 | NM_000487.5:c.1408_1418delGCAGCTGTGAC, NM_000487.5:c.1401_1411delGTTAGACGCAG, NM_000487.5:c.1283C>T, NM_000487.5:c.1241delC, NM_000487.5:c.1232C>T, NM_000487.5:c.1210+1G>A, NM_000487.5:c.1175G>A, NM_000487.5:c.1174C>T, NM_000487.5:c.1150G>A, NM_000487.5:c.1125_1126delCT, NM_000487.5:c.1108-2A>G, NM_000487.5:c.991G>T, NM_000487.5:c.986C>T, NM_000487.5:c.979G>A, NM_000487.5:c.938G>A, NM_000487.5:c.937C>T, NM_000487.5:c.931G>A, NM_000487.5:c.899T>C, NM_000487.5:c.883G>A, NM_000487.5:c.869G>A, NM_000487.5:c.854+1G>A, NM_000487.5:c.827C>T, NM_000487.5:c.763G>A, NM_000487.5:c.739G>A, NM_000487.5:c.737G>A, NM_000487.5:c.641C>T, NM_000487.5:c.583delT, NM_000487.5:c.582delC, NM_000487.5:c.542dupT, NM_000487.5:c.542T>G, NM_000487.5:c.465+1G>A, NM_000487.5:c.346C>T, NM_000487.5:c.302G>A, NM_000487.5:c.293C>T, NM_000487.5:c.257G>A, NM_000487.5:c.195delC, NM_000487.5:c.34delG |
| ARSB | Mucopolysaccharidosis type 6 (Maroteaux-Lamy) | NM_000046.3 | NM_000046.3:c.1438dupG, NM_000046.3:c.1366C>T, NM_000046.3:c.1214G>A, NM_000046.3:c.1178A>C, NM_000046.3:c.1161dupC, NM_000046.3:c.1143-1G>C, NM_000046.3:c.1143-8T>G, NM_000046.3:c.979C>T, NM_000046.3:c.971G>T, NM_000046.3:c.944G>A, NM_000046.3:c.937C>G, NM_000046.3:c.921delA, NM_000046.3:c.753C>G, NM_000046.3:c.629A>G, NM_000046.3:c.589C>T, NM_000046.3:c.571C>T, NM_000046.3:c.427delG, NM_000046.3:c.349T>C |
| ARSE | Chondrodysplasia punctata, X-linked recessive | NM_001282628.1 | NM_001282628.1:c.1807C>T, NM_001282628.1:c.1517C>T, NM_001282628.1:c.1504delG, NM_001282628.1:c.485G>T, NM_001282628.1:c.194T>G, NM_001282628.1:c.99-1G>A |
| ARX | Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders | NM_139058.2 | NM_139058.2:c.1058C>T, NM_139058.2:c.980_983delAACA |
| ASL | Argininosuccinic aciduria | NM_000048.3 | NM_000048.3:c.35G>A, NM_000048.3:c.337C>T, NM_000048.3:c.346C>T, NM_000048.3:c.446+1G>A, NM_000048.3:c.525-2A>T, NM_000048.3:c.532G>A, NM_000048.3:c.539T>G, NM_000048.3:c.544C>T, NM_000048.3:c.578G>A, NM_000048.3:c.602+1G>A, NM_000048.3:c.857A>G, NM_000048.3:c.1045_1057delGTCATCTCTACGC, NM_000048.3:c.1060C>T, NM_000048.3:c.1135C>T, NM_000048.3:c.1144-2A>G, NM_000048.3:c.1153C>T, NM_000048.3:c.1255_1256delCT, NM_000048.3:c.1369dupG |
| ASPA | Canavan disease | NM_000049.2 | NM_000049.2:c.212G>A, NM_000049.2:c.433-2A>G, NM_000049.2:c.654C>A, NM_000049.2:c.693C>A, NM_000049.2:c.854A>C, NM_000049.2:c.914C>A |
| ASPM | Primary microcephaly type 5, autosomal recessive | NM_018136.4 | NM_018136.4:c.10059C>A, NM_018136.4:c.9789T>A, NM_018136.4:c.9754delA, NM_018136.4:c.9747_9748delCT, NM_018136.4:c.9730C>T, NM_018136.4:c.9697C>T, NM_018136.4:c.9685delA, NM_018136.4:c.9677dupG, NM_018136.4:c.9557C>G, NM_018136.4:c.9492T>G, NM_018136.4:c.9319C>T, NM_018136.4:c.9238A>T, NM_018136.4:c.9190C>T, NM_018136.4:c.9178C>T, NM_018136.4:c.9159delA, NM_018136.4:c.9115_9118dupCATT, NM_018136.4:c.8844delC, NM_018136.4:c.8711_8712delAA, NM_018136.4:c.8668C>T, NM_018136.4:c.8508_8509delGA, NM_018136.4:c.8378delT, NM_018136.4:c.8230dupA, NM_018136.4:c.8131_8132delAA, NM_018136.4:c.7894C>T, NM_018136.4:c.7860_7861delGA, NM_018136.4:c.7782_7783delGA, NM_018136.4:c.7761T>G, NM_018136.4:c.7491_7495delTATTA, NM_018136.4:c.6732delA, NM_018136.4:c.6337_6338delAT, NM_018136.4:c.6232C>T, NM_018136.4:c.6189T>G, NM_018136.4:c.6073delG, NM_018136.4:c.5439_5440delAG, NM_018136.4:c.5149delA, NM_018136.4:c.5136C>A, NM_018136.4:c.4858_4859delAT, NM_018136.4:c.4795C>T, NM_018136.4:c.4583delA, NM_018136.4:c.4195dupA, NM_018136.4:c.3979C>T, NM_018136.4:c.3978G>A, NM_018136.4:c.3811C>T, NM_018136.4:c.3796G>T, NM_018136.4:c.3710C>G, NM_018136.4:c.3663delG, NM_018136.4:c.3527C>G, NM_018136.4:c.3477_3481delCGCTA, NM_018136.4:c.3188T>G, NM_018136.4:c.3082G>A, NM_018136.4:c.3055C>T, NM_018136.4:c.2967G>A, NM_018136.4:c.2389C>T, NM_018136.4:c.1990C>T, NM_018136.4:c.1959_1962delCAAA, NM_018136.4:c.1729_1730delAG, NM_018136.4:c.1590delA, NM_018136.4:c.1406_1413delATCCTAAA, NM_018136.4:c.1366G>T, NM_018136.4:c.1260_1266delTCAAGTC, NM_018136.4:c.1179delT, NM_018136.4:c.1154_1155delAG, NM_018136.4:c.1002delA, NM_018136.4:c.719_720delCT, NM_018136.4:c.577C>T, NM_018136.4:c.349C>T |
| ASS1 | Citrullinemia type 1 | NM_000050.4 | NM_000050.4:c.40G>A, NM_000050.4:c.256C>T, NM_000050.4:c.257G>A, NM_000050.4:c.349G>A, NM_000050.4:c.421-2A>G, NM_000050.4:c.470G>A, NM_000050.4:c.496-2A>G, NM_000050.4:c.535T>C, NM_000050.4:c.539G>A, NM_000050.4:c.571G>A, NM_000050.4:c.787G>A, NM_000050.4:c.793C>T, NM_000050.4:c.794G>A, NM_000050.4:c.805G>A, NM_000050.4:c.814C>T, NM_000050.4:c.835C>T, NM_000050.4:c.836G>A, NM_000050.4:c.910C>T, NM_000050.4:c.919C>T, NM_000050.4:c.970G>A, NM_000050.4:c.970+5G>A, NM_000050.4:c.1085G>T, NM_000050.4:c.1087C>T, NM_000050.4:c.1088G>A, NM_000050.4:c.1168G>A, NM_000050.4:c.1194-1G>C |
| ATIC | AICA-ribosiduria due to ATIC deficiency | NM_004044.6 | NM_004044.6:c.1277A>G |
| ATP7A | Menkes disease | NM_000052.6 | NM_000052.6:c.1639C>T, NM_000052.6:c.1974_1977dupGTTT, NM_000052.6:c.2938C>T, NM_000052.6:c.2981C>T, NM_000052.6:c.3257_3258delAC, NM_000052.6:c.3294+2T>G, NM_000052.6:c.3911A>G, NM_000052.6:c.3915_3921delCTCCCCA |
| ATP7B | Wilson disease | NM_000053.3 | NM_000053.3:c.4088C>T, NM_000053.3:c.4058G>A, NM_000053.3:c.3990_3993delTTAT, NM_000053.3:c.3955C>T, NM_000053.3:c.3809A>G, NM_000053.3:c.3796G>A, NM_000053.3:c.3694A>C, NM_000053.3:c.3359T>A, NM_000053.3:c.3207C>A, NM_000053.3:c.3083delA, NM_000053.3:c.2975C>T, NM_000053.3:c.2972C>T, NM_000053.3:c.2930C>T, NM_000053.3:c.2906G>A, NM_000053.3:c.2807T>A, NM_000053.3:c.2804C>T, NM_000053.3:c.2795C>A, NM_000053.3:c.2755C>T, NM_000053.3:c.2755C>G, NM_000053.3:c.2621C>T, NM_000053.3:c.2605G>A, NM_000053.3:c.2532delA, NM_000053.3:c.2356-2A>G, NM_000053.3:c.2305A>G, NM_000053.3:c.2297C>G, NM_000053.3:c.2123T>C, NM_000053.3:c.2071G>A, NM_000053.3:c.1934T>G, NM_000053.3:c.1846C>T, NM_000053.3:c.1745_1746delTA, NM_000053.3:c.1512dupT, NM_000053.3:c.1145_1151delCCCAACT, NM_000053.3:c.915T>A, NM_000053.3:c.562C>T, NM_000053.3:c.19_20delCA |
| ATR | Seckel syndrome type 1 | NM_001184.3 | NM_001184.3:c.6488delT, NM_001184.3:c.6037dupA, NM_001184.3:c.5645delA, NM_001184.3:c.5635G>T, NM_001184.3:c.2341+1G>A, NM_001184.3:c.975_976delCT |
| AUH | 3-methylglutaconic aciduria, type 1 | NM_001698.2 | NM_001698.2:c.991A>T, NM_001698.2:c.943-2A>G, NM_001698.2:c.895-1G>A, NM_001698.2:c.656-2A>G, NM_001698.2:c.650G>A, NM_001698.2:c.589C>T, NM_001698.2:c.559G>A, NM_001698.2:c.471delT |
| B4GALT1 | Congenital disorder of glycosylation, type 2d | NM_001497.3 | NM_001497.3:c.1031dupC |
| B9D2 | Joubert syndrome type 34; Meckel syndrome type 10 | NM_030578.3 | NM_030578.3:c.301A>C |
| BCKDHA | Maple syrup urine disease, type 1a | NM_000709.3 | NM_000709.3:c.14delT, NM_000709.3:c.632C>T, NM_000709.3:c.659C>T, NM_000709.3:c.741dupT, NM_000709.3:c.797delA, NM_000709.3:c.853G>C, NM_000709.3:c.868G>A, NM_000709.3:c.905A>C, NM_000709.3:c.909_910delGT, NM_000709.3:c.917delT, NM_000709.3:c.929C>G, NM_000709.3:c.964C>T, NM_000709.3:c.979G>A, NM_000709.3:c.1036C>T, NM_000709.3:c.1037G>A, NM_000709.3:c.1234G>A |
| BCKDHB | Maple syrup urine disease, type 1b | NM_000056.4 | NM_000056.4:c.302G>A, NM_000056.4:c.342T>G, NM_000056.4:c.344-1G>A, NM_000056.4:c.356T>G, NM_000056.4:c.479T>G, NM_000056.4:c.488A>T, NM_000056.4:c.508C>A, NM_000056.4:c.508C>G, NM_000056.4:c.508C>T, NM_000056.4:c.509G>A, NM_000056.4:c.526A>T, NM_000056.4:c.547C>T, NM_000056.4:c.548G>C, NM_000056.4:c.748G>T, NM_000056.4:c.752T>C, NM_000056.4:c.799C>T, NM_000056.4:c.832G>A, NM_000056.4:c.853C>T, NM_000056.4:c.885delT, NM_000056.4:c.902T>G, NM_000056.4:c.952-1G>A, NM_000056.4:c.970C>T, NM_000056.4:c.1046G>A, NM_000056.4:c.1114G>T |
| BCS1L | BCS1L-related disorders, including Leigh syndrome | NM_001079866.1 | NM_001079866.1:c.103G>C, NM_001079866.1:c.133C>T, NM_001079866.1:c.148A>G, NM_001079866.1:c.166C>T, NM_001079866.1:c.232A>G, NM_001079866.1:c.547C>T, NM_001079866.1:c.548G>A, NM_001079866.1:c.550C>T, NM_001079866.1:c.696delT, NM_001079866.1:c.830G>A, NM_001079866.1:c.1057G>A |
| BEST1 | Bestrophinopathy, AR | NM_001139443.1 | NM_001139443.1:c.242G>A, NM_001139443.1:c.341_342delTG, NM_001139443.1:c.344delG, NM_001139443.1:c.418C>T, NM_001139443.1:c.434T>C, NM_001139443.1:c.502G>A, NM_001139443.1:c.754G>A, NM_001139443.1:c.769G>A, NM_001139443.1:c.1129_1130insCCAAAGA, NM_001139443.1:c.1203_1204insGCCTTGATGGA, NM_001139443.1:c.1311_1317dupCAAAGAC |
| BEST1 | Bestrophinopathy, AR | NM_004183.3 | NM_004183.3:c.122T>C |
| BSCL2 | Congenital generalized lipodystrophy, type 2; Encephalopathy, progressive, with or without lipodystrophy | NM_001122955.3 | NM_001122955.3:c.1166_1167insG, NM_001122955.3:c.1015C>T, NM_001122955.3:c.985C>T, NM_001122955.3:c.974dupG, NM_001122955.3:c.864-3C>G, NM_001122955.3:c.863+5G>A, NM_001122955.3:c.826G>C, NM_001122955.3:c.604C>T |
| BSND | Bartter syndrome, type 4a | NM_057176.2 | NM_057176.2:c.1A>T, NM_057176.2:c.3G>A, NM_057176.2:c.10G>T, NM_057176.2:c.22C>T, NM_057176.2:c.23G>T, NM_057176.2:c.35T>C, NM_057176.2:c.139G>A |
| BTD | Biotinidase deficiency | NM_001281723.2 | NM_001281723.2:c.190G>A, NM_001281723.2:c.241C>T, NM_001281723.2:c.340G>C, NM_001281723.2:c.449G>A, NM_001281723.2:c.517G>A, NM_001281723.2:c.534G>T, NM_001281723.2:c.563G>A, NM_001281723.2:c.589A>G, NM_001281723.2:c.601G>A, NM_001281723.2:c.635A>G, NM_001281723.2:c.637C>T, NM_001281723.2:c.649C>T, NM_001281723.2:c.670G>A, NM_001281723.2:c.761A>G, NM_001281723.2:c.800A>T, NM_001281723.2:c.939delT, NM_001281723.2:c.1330delG, NM_001281723.2:c.1345C>T, NM_001281723.2:c.1358G>A, NM_001281723.2:c.1374A>C, NM_001281723.2:c.1495C>T, NM_001281723.2:c.1514_1518delGGATG, NM_001281723.2:c.1601C>T, NM_001281723.2:c.1618C>T |
| BTK | Agammaglobulinemia X-linked, type 1 | NM_001287344.1 | NM_001287344.1:c.2008G>T, NM_001287344.1:c.1991T>A, NM_001287344.1:c.1940G>A, NM_001287344.1:c.1922C>A, NM_001287344.1:c.1875C>A, NM_001287344.1:c.1868A>G, NM_001287344.1:c.1661G>A, NM_001287344.1:c.1660C>T, NM_001287344.1:c.1618T>C, NM_001287344.1:c.1608C>A, NM_001287344.1:c.1390A>G, NM_001287344.1:c.1377C>A, NM_001287344.1:c.1325T>C, NM_001287344.1:c.1227T>G, NM_001287344.1:c.1184A>G, NM_001287344.1:c.1103A>C, NM_001287344.1:c.1021A>G, NM_001287344.1:c.964C>T, NM_001287344.1:c.865C>T, NM_001287344.1:c.857G>A, NM_001287344.1:c.820G>T, NM_001287344.1:c.440T>A |
| C3 | Complement C3 deficiency | NM_000064.3 | NM_000064.3:c.4851-1G>A, NM_000064.3:c.3627_3628insGGGGCCC, NM_000064.3:c.3116dupT, NM_000064.3:c.2562C>G, NM_000064.3:c.2354+1G>A, NM_000064.3:c.1119+1G>T, NM_000064.3:c.1004-2A>T |
| CA2 | Osteopetrosis, autosomal recessive type 3 | NM_000067.2 | NM_000067.2:c.120T>G, NM_000067.2:c.319C>T, NM_000067.2:c.663+2T>C |
| CAPN3 | Limb-girdle muscular dystrophy type 1 (LGMDR1; formerly LGMD2A) | NM_000070.2 | NM_000070.2:c.133G>A, NM_000070.2:c.223dupT, NM_000070.2:c.257C>T, NM_000070.2:c.328C>T, NM_000070.2:c.550delA, NM_000070.2:c.580delT, NM_000070.2:c.598_612delTTCTGGAGTGCTCTG, NM_000070.2:c.855_864dupGTTGATTGCA, NM_000070.2:c.956C>T, NM_000070.2:c.1322delG, NM_000070.2:c.1466G>A, NM_000070.2:c.1468C>T, NM_000070.2:c.1469G>A, NM_000070.2:c.1599_1602delGAGC, NM_000070.2:c.1715G>A, NM_000070.2:c.1795dupA, NM_000070.2:c.1838delA, NM_000070.2:c.2120A>G, NM_000070.2:c.2212C>T, NM_000070.2:c.2243G>A, NM_000070.2:c.2251_2254dupGTCA, NM_000070.2:c.2306G>A, NM_000070.2:c.2362_2363delAGinsTCATCT |
| CBS | Homocystinuria, B6-responsive and nonresponsive types | NM_000071.2 | NM_000071.2:c.1330G>A, NM_000071.2:c.1280C>T, NM_000071.2:c.1150A>G, NM_000071.2:c.1136G>A, NM_000071.2:c.1058C>T, NM_000071.2:c.1006C>T, NM_000071.2:c.992C>A, NM_000071.2:c.969G>A, NM_000071.2:c.959T>C, NM_000071.2:c.919G>A, NM_000071.2:c.833T>C, NM_000071.2:c.797G>A, NM_000071.2:c.689delT, NM_000071.2:c.676G>A, NM_000071.2:c.572C>T, NM_000071.2:c.526G>T, NM_000071.2:c.502G>A, NM_000071.2:c.434C>T, NM_000071.2:c.430G>A, NM_000071.2:c.415G>A, NM_000071.2:c.393G>C, NM_000071.2:c.374G>A, NM_000071.2:c.341C>T, NM_000071.2:c.325T>C, NM_000071.2:c.162G>A, NM_000071.2:c.146C>T |
| CC2D2A | Joubert syndrome type 9; Meckel syndrome type 6 | NM_001080522.2 | NM_001080522.2:c.2486+1G>C, NM_001080522.2:c.2848C>T, NM_001080522.2:c.3145C>T, NM_001080522.2:c.3289delG, NM_001080522.2:c.3364C>T, NM_001080522.2:c.3594+1G>A, NM_001080522.2:c.4179+1delG, NM_001080522.2:c.4181delG, NM_001080522.2:c.4333C>T, NM_001080522.2:c.4582C>T, NM_001080522.2:c.4667A>T |
| CD40LG | Immunodeficiency, X-linked, with hyper-IgM | NM_000074.2 | NM_000074.2:c.107T>G, NM_000074.2:c.368C>A |
| CDH23 | Usher syndrome, type 1D | NM_022124.5 | NM_022124.5:c.146-2A>G, NM_022124.5:c.193delC, NM_022124.5:c.288+1G>A, NM_022124.5:c.1858+2T>G, NM_022124.5:c.3141C>A, NM_022124.5:c.3516_3519delATCC, NM_022124.5:c.3579+2T>C, NM_022124.5:c.4504C>T, NM_022124.5:c.5237G>A, NM_022124.5:c.5663T>C, NM_022124.5:c.6050-9G>A, NM_022124.5:c.6393delC, NM_022124.5:c.6442G>A |
| CDH3 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy | NM_001793.5 | NM_001793.5:c.461dupC, NM_001793.5:c.830delG, NM_001793.5:c.965A>T, NM_001793.5:c.981delG, NM_001793.5:c.1508G>A |
| CDHR1 | Cone-rod dystrophy, type 15 | NM_033100.3 | NM_033100.3:c.338delG, NM_033100.3:c.524dupA, NM_033100.3:c.640delG, NM_033100.3:c.1112delC, NM_033100.3:c.1463delG, NM_033100.3:c.1485+2T>C, NM_033100.3:c.1485+2T>G |
| CDK5RAP2 | Primary microcephaly type 3, autosomal recessive | NM_018249.5 | NM_018249.5:c.4672C>T, NM_018249.5:c.4658_4661dupTATT, NM_018249.5:c.4546G>T, NM_018249.5:c.700G>T, NM_018249.5:c.524_528delAGGCA, NM_018249.5:c.246T>A, NM_018249.5:c.127+1G>C |
| CENPJ | Primary microcephaly type 6, autosomal recessive | NM_018451.4 | NM_018451.4:c.3842_3843dupTA, NM_018451.4:c.3704A>T, NM_018451.4:c.3699_3702dupAATA, NM_018451.4:c.3568_3571dupGTCA, NM_018451.4:c.3415G>T, NM_018451.4:c.3243_3246delTCAG, NM_018451.4:c.2968_2972delAAAAA, NM_018451.4:c.2614delT, NM_018451.4:c.2460_2463delGACG, NM_018451.4:c.1949_1952dupAGTG, NM_018451.4:c.757_760delGTCT, NM_018451.4:c.289dupA, NM_018451.4:c.232_236delCAGAA, NM_018451.4:c.40C>T |
| CEP152 | Primary microcephaly type 9, autosomal recessive | NM_001194998.1 | NM_001194998.1:c.2034T>G, NM_001194998.1:c.1578-1G>A, NM_001194998.1:c.794A>C, NM_001194998.1:c.749_750delGA |
| CEP290 | Meckel syndrome type 4; Joubert syndrome type 5 | NM_025114.3 | NM_025114.3:c.7341dupA, NM_025114.3:c.7341delA, NM_025114.3:c.7324G>T, NM_025114.3:c.6798G>A, NM_025114.3:c.6645+1G>A, NM_025114.3:c.6624delG, NM_025114.3:c.6448_6455delCAGTTGAA, NM_025114.3:c.5668G>T, NM_025114.3:c.5611_5614delCAAA, NM_025114.3:c.4962_4963delAA, NM_025114.3:c.4916C>A, NM_025114.3:c.4723A>T, NM_025114.3:c.4705-1G>T, NM_025114.3:c.4656delA, NM_025114.3:c.4393C>T, NM_025114.3:c.3185delT, NM_025114.3:c.2249T>G, NM_025114.3:c.1681C>T, NM_025114.3:c.1665_1666delAA, NM_025114.3:c.1501G>T, NM_025114.3:c.613C>T, NM_025114.3:c.384_387delTAGA, NM_025114.3:c.164_167delCTCA, NM_025114.3:c.21G>T |
| CERKL | Retinitis pigmentosa type 26 | NM_001030311.2 | NM_001030311.2:c.1090C>T, NM_001030311.2:c.858delT, NM_001030311.2:c.847C>T, NM_001030311.2:c.312delA |
| CFH | Complement factor H deficiency | NM_000186.3 | NM_000186.3:c.380G>T, NM_000186.3:c.1606T>C, NM_000186.3:c.2876G>A |
| CFTR | Cystic fibrosis | NM_000492.3 | NM_000492.3:c.1A>G, NM_000492.3:c.4C>T, NM_000492.3:c.11C>A, NM_000492.3:c.50delT, NM_000492.3:c.44T>C, NM_000492.3:c.53+1G>T, NM_000492.3:c.57G>A, NM_000492.3:c.79G>T, NM_000492.3:c.88C>T, NM_000492.3:c.115C>T, NM_000492.3:c.137C>A, NM_000492.3:c.164+1G>A, NM_000492.3:c.164+1G>T, NM_000492.3:c.164+2T>C, NM_000492.3:c.164+4dupT, NM_000492.3:c.165-3C>T, NM_000492.3:c.165-1G>A, NM_000492.3:c.166G>A, NM_000492.3:c.169T>G, NM_000492.3:c.170G>A, NM_000492.3:c.171G>A, NM_000492.3:c.174_177delTAGA, NM_000492.3:c.175dupA, NM_000492.3:c.178G>A, NM_000492.3:c.178G>T, NM_000492.3:c.200C>T, NM_000492.3:c.223C>T, NM_000492.3:c.233dupT, NM_000492.3:c.254G>A, NM_000492.3:c.262_263delTT, NM_000492.3:c.263T>A, NM_000492.3:c.263T>G, NM_000492.3:c.271G>A, NM_000492.3:c.273+1G>A, NM_000492.3:c.273+3A>C, NM_000492.3:c.274-2A>G, NM_000492.3:c.274-1G>A, NM_000492.3:c.274G>A, NM_000492.3:c.274G>T, NM_000492.3:c.292C>T, NM_000492.3:c.305T>G, NM_000492.3:c.310delA, NM_000492.3:c.313delA, NM_000492.3:c.325_327delTATinsG, NM_000492.3:c.328G>C, NM_000492.3:c.328G>T, NM_000492.3:c.349C>T, NM_000492.3:c.350G>A, NM_000492.3:c.350G>T, NM_000492.3:c.366T>A, NM_000492.3:c.409delC, NM_000492.3:c.413_415dupTAC, NM_000492.3:c.416A>G, NM_000492.3:c.442delA, NM_000492.3:c.445G>A, NM_000492.3:c.445G>T, NM_000492.3:c.446G>T, NM_000492.3:c.489+1G>T, NM_000492.3:c.531delT, NM_000492.3:c.532G>A, NM_000492.3:c.543_546delTAGT, NM_000492.3:c.571T>G, NM_000492.3:c.577G>T, NM_000492.3:c.579+1G>T, NM_000492.3:c.579+3A>G, NM_000492.3:c.579+5G>A, NM_000492.3:c.580-1G>T, NM_000492.3:c.595C>T, NM_000492.3:c.613C>T, NM_000492.3:c.617T>G, NM_000492.3:c.647G>A, NM_000492.3:c.658C>T, NM_000492.3:c.680T>G, NM_000492.3:c.695T>A, NM_000492.3:c.708delT, NM_000492.3:c.717delG, NM_000492.3:c.803delA, NM_000492.3:c.825C>G, NM_000492.3:c.828C>A, NM_000492.3:c.850dupA, NM_000492.3:c.861_865delCTTAA, NM_000492.3:c.935_937delTCT, NM_000492.3:c.933C>G, NM_000492.3:c.948delT, NM_000492.3:c.987delA, NM_000492.3:c.988G>T, NM_000492.3:c.1000C>T, NM_000492.3:c.1001G>T, NM_000492.3:c.1006_1007insG, NM_000492.3:c.1007T>A, NM_000492.3:c.1013C>T, NM_000492.3:c.1021_1022dupTC, NM_000492.3:c.1021T>C, NM_000492.3:c.1029delC, NM_000492.3:c.1037T>C, NM_000492.3:c.1040G>A, NM_000492.3:c.1040G>C, NM_000492.3:c.1055G>A, NM_000492.3:c.1075C>A, NM_000492.3:c.1079C>A, NM_000492.3:c.1081delT, NM_000492.3:c.1116+1G>A, NM_000492.3:c.1117-1G>A, NM_000492.3:c.1130dupA, NM_000492.3:c.1155_1156dupTA, NM_000492.3:c.1202G>A, NM_000492.3:c.1203G>A, NM_000492.3:c.1209+1G>A, NM_000492.3:c.1211delG, NM_000492.3:c.1240C>T, NM_000492.3:c.1301_1307delCACTTCT, NM_000492.3:c.1327_1330dupGATA, NM_000492.3:c.1340delA, NM_000492.3:c.1364C>A, NM_000492.3:c.1365_1366delGG, NM_000492.3:c.1393-2A>G, NM_000492.3:c.1393-1G>A, NM_000492.3:c.1397C>A, NM_000492.3:c.1397C>G, NM_000492.3:c.1400T>C, NM_000492.3:c.1418delG, NM_000492.3:c.1420G>A, NM_000492.3:c.1438G>T, NM_000492.3:c.1466C>A, NM_000492.3:c.1475C>T, NM_000492.3:c.1477_1478delCA, NM_000492.3:c.1477C>T, NM_000492.3:c.1487G>A, NM_000492.3:c.1505T>C, NM_000492.3:c.1519_1521delATC, NM_000492.3:c.1516A>G, NM_000492.3:c.1519A>G, NM_000492.3:c.1521_1523delCTT, NM_000492.3:c.1523T>G, NM_000492.3:c.1538A>G, NM_000492.3:c.1545_1546delTA, NM_000492.3:c.1558G>T, NM_000492.3:c.1572C>A, NM_000492.3:c.1573C>T, NM_000492.3:c.1584+1G>A, NM_000492.3:c.1585-8G>A, NM_000492.3:c.1585-1G>A, NM_000492.3:c.1624G>T, NM_000492.3:c.1645A>C, NM_000492.3:c.1646G>A, NM_000492.3:c.1647T>G, NM_000492.3:c.1648G>T, NM_000492.3:c.1650delA, NM_000492.3:c.1651G>A, NM_000492.3:c.1652G>A, NM_000492.3:c.1654C>T, NM_000492.3:c.1657C>T, NM_000492.3:c.1670delC, NM_000492.3:c.1673T>C, NM_000492.3:c.1675G>A, NM_000492.3:c.1679G>A, NM_000492.3:c.1679G>C, NM_000492.3:c.1679+1G>A, NM_000492.3:c.1679+1G>C, NM_000492.3:c.1680-886A>G, NM_000492.3:c.1680-1G>A, NM_000492.3:c.1682C>A, NM_000492.3:c.1692delA, NM_000492.3:c.1703delT, NM_000492.3:c.1705T>G, NM_000492.3:c.1721C>A, NM_000492.3:c.1753G>T, NM_000492.3:c.1766+1G>A, NM_000492.3:c.1766+1G>C, NM_000492.3:c.1766+1G>T, NM_000492.3:c.1766+3A>G, NM_000492.3:c.1766+5G>T, NM_000492.3:c.1792_1798delAAAACTA, NM_000492.3:c.1826A>G, NM_000492.3:c.1882G>C, NM_000492.3:c.1923_1931delCTCAAAACTinsA, NM_000492.3:c.1973_1985delGAAATTCAATCCTinsAGAAA, NM_000492.3:c.1986_1989delAACT, NM_000492.3:c.2012delT, NM_000492.3:c.2017G>T, NM_000492.3:c.2052dupA, NM_000492.3:c.2052delA, NM_000492.3:c.2051_2052delAAinsG, NM_000492.3:c.2053dupC, NM_000492.3:c.2053C>T, NM_000492.3:c.2125C>T, NM_000492.3:c.2128A>T, NM_000492.3:c.2143C>T, NM_000492.3:c.2158C>T, NM_000492.3:c.2175dupA, NM_000492.3:c.2195T>G, NM_000492.3:c.2215delG, NM_000492.3:c.2241_2248delGATACTGC, NM_000492.3:c.2290C>T, NM_000492.3:c.2353C>T, NM_000492.3:c.2374C>T, NM_000492.3:c.2423_2424dupAT, NM_000492.3:c.2453delT, NM_000492.3:c.2463_2464delTG, NM_000492.3:c.2464G>T, NM_000492.3:c.2490+1G>A, NM_000492.3:c.2491G>T, NM_000492.3:c.2537G>A, NM_000492.3:c.2538G>A, NM_000492.3:c.2547C>A, NM_000492.3:c.2551C>T, NM_000492.3:c.2583delT, NM_000492.3:c.2589_2599delAATTTGGTGCT, NM_000492.3:c.2601dupA, NM_000492.3:c.2645G>A, NM_000492.3:c.2657+5G>A, NM_000492.3:c.2658-1G>C, NM_000492.3:c.2668C>T, NM_000492.3:c.2735C>A, NM_000492.3:c.2737_2738insG, NM_000492.3:c.2739T>A, NM_000492.3:c.2763_2764dupAG, NM_000492.3:c.2780T>C, NM_000492.3:c.2810dupT, NM_000492.3:c.2825delT, NM_000492.3:c.2834C>T, NM_000492.3:c.2869_2870insG, NM_000492.3:c.2875delG, NM_000492.3:c.2896delA, NM_000492.3:c.2908G>C, NM_000492.3:c.2930C>T, NM_000492.3:c.2936A>T, NM_000492.3:c.2988G>A, NM_000492.3:c.2988+1G>A, NM_000492.3:c.2989-2A>G, NM_000492.3:c.2989-1G>A, NM_000492.3:c.3002_3003delTG, NM_000492.3:c.3011_3019delCTATAGCAG, NM_000492.3:c.3017C>A, NM_000492.3:c.3039dupC, NM_000492.3:c.3039delC, NM_000492.3:c.3067_3072delATAGTG, NM_000492.3:c.3080T>C, NM_000492.3:c.3107C>A, NM_000492.3:c.3124C>T, NM_000492.3:c.3139_3139+1delGG, NM_000492.3:c.3140-26A>G, NM_000492.3:c.3160C>G, NM_000492.3:c.3181G>C, NM_000492.3:c.3194T>C, NM_000492.3:c.3196C>T, NM_000492.3:c.3197G>A, NM_000492.3:c.3205G>A, NM_000492.3:c.3209G>A, NM_000492.3:c.3230T>C, NM_000492.3:c.3266G>A, NM_000492.3:c.3276C>A, NM_000492.3:c.3276C>G, NM_000492.3:c.3292T>C, NM_000492.3:c.3293G>A, NM_000492.3:c.3294G>A, NM_000492.3:c.3294G>C, NM_000492.3:c.3294G>T, NM_000492.3:c.3302T>A, NM_000492.3:c.3302T>G, NM_000492.3:c.3304A>T, NM_000492.3:c.3310G>T, NM_000492.3:c.3353C>T, NM_000492.3:c.3368-2A>G, NM_000492.3:c.3435G>A, NM_000492.3:c.3454G>C, NM_000492.3:c.3468G>A, NM_000492.3:c.3468+5G>A, NM_000492.3:c.3472C>T, NM_000492.3:c.3484C>T, NM_000492.3:c.3528delC, NM_000492.3:c.3532_3535dupTCAA, NM_000492.3:c.3536_3539delCCAA, NM_000492.3:c.3587C>G, NM_000492.3:c.3605delA, NM_000492.3:c.3611G>A, NM_000492.3:c.3612G>A, NM_000492.3:c.3659delC, NM_000492.3:c.3691delT, NM_000492.3:c.3700A>G, NM_000492.3:c.3717+4A>G, NM_000492.3:c.3717+5G>A, NM_000492.3:c.3717+40A>G, NM_000492.3:c.3718-2477C>T, NM_000492.3:c.3718-3T>G, NM_000492.3:c.3718-1G>A, NM_000492.3:c.3719T>G, NM_000492.3:c.3731G>A, NM_000492.3:c.3744delA, NM_000492.3:c.3747delG, NM_000492.3:c.3752G>A, NM_000492.3:c.3761T>G, NM_000492.3:c.3763T>C, NM_000492.3:c.3764C>A, NM_000492.3:c.3773dupT, NM_000492.3:c.3846G>A, NM_000492.3:c.3848G>T, NM_000492.3:c.3873+1G>A, NM_000492.3:c.3873+2T>C, NM_000492.3:c.3883_3886delATTT, NM_000492.3:c.3883delA, NM_000492.3:c.3889dupT, NM_000492.3:c.3891dupT, NM_000492.3:c.3908delA, NM_000492.3:c.3909C>G, NM_000492.3:c.3937C>T, NM_000492.3:c.3971T>C, NM_000492.3:c.4036_4042delCTAAGCC, NM_000492.3:c.4046G>A, NM_000492.3:c.4077_4080delTGTTinsAA, NM_000492.3:c.4086dupT, NM_000492.3:c.4111G>T, NM_000492.3:c.4127_4131delTGGAT, NM_000492.3:c.4144C>T, NM_000492.3:c.4147dupA, NM_000492.3:c.4197_4198delCT, NM_000492.3:c.4231C>T, NM_000492.3:c.4234C>T, NM_000492.3:c.4242+1G>A, NM_000492.3:c.4242+1G>T, NM_000492.3:c.4251delA, NM_000492.3:c.4300_4301dupAG, NM_000492.3:c.4426C>T |
| CHST6 | Macular corneal dystrophy | NM_021615.4 | NM_021615.4:c.853delC, NM_021615.4:c.820G>T, NM_021615.4:c.392C>A, NM_021615.4:c.327_328delCT |
| CLCN1 | Myotonia congenita, recessive | NM_000083.2 | NM_000083.2:c.180+3A>T, NM_000083.2:c.225dupC, NM_000083.2:c.409T>G, NM_000083.2:c.871G>A, NM_000083.2:c.1238T>G, NM_000083.2:c.1453A>G, NM_000083.2:c.2680C>T |
| CLCN7 | Osteopetrosis, autosomal recessive type 4 | NM_001287.5 | NM_001287.5:c.781A>T, NM_001287.5:c.622C>T |
| CLDN14 | Deafness type 29, autosomal recessive | NM_001146077.1 | NM_001146077.1:c.398delT, NM_001146077.1:c.301G>A, NM_001146077.1:c.254T>A |
| CLDN19 | Rena hypomagnesemia type 5, with ocular involvement | NM_148960.2 | NM_148960.2:c.425_437delCCCTGGTGACCCA, NM_148960.2:c.269T>C, NM_148960.2:c.169C>G, NM_148960.2:c.59G>A |
| CLN3 | Ceroid lipofuscinosis, neuronal, type 3 | NM_000086.2 | NM_000086.2:c.1272delG, NM_000086.2:c.883G>A, NM_000086.2:c.622dupT, NM_000086.2:c.597C>A |
| CLN5 | Ceroid lipofuscinosis, neuronal, type 5 | NM_006493.2 | NM_006493.2:c.335G>C, NM_006493.2:c.377G>A, NM_006493.2:c.433C>T, NM_006493.2:c.524T>G, NM_006493.2:c.526dupA, NM_006493.2:c.565C>T, NM_006493.2:c.575A>G, NM_006493.2:c.593T>C, NM_006493.2:c.595C>T, NM_006493.2:c.613C>T, NM_006493.2:c.620G>C, NM_006493.2:c.669dupC, NM_006493.2:c.835G>A, NM_006493.2:c.919delA, NM_006493.2:c.924_925delAT, NM_006493.2:c.1026C>A |
| CLN6 | Ceroid lipofuscinosis, neuronal, type 6 | NM_017882.2 | NM_017882.2:c.663C>G, NM_017882.2:c.214G>T, NM_017882.2:c.200T>C |
| CLN8 | Ceroid lipofuscinosis, neuronal, type 8 | NM_018941.3 | NM_018941.3:c.88delG, NM_018941.3:c.88G>C, NM_018941.3:c.610C>T, NM_018941.3:c.789G>C |
| CLRN1 | Usher syndrome, type 3A | NM_001195794.1 | NM_001195794.1:c.669_670insT, NM_001195794.1:c.630dupT, NM_001195794.1:c.189C>A, NM_001195794.1:c.144T>G, NM_001195794.1:c.118T>G, NM_001195794.1:c.92C>T |
| CNGA1 | Retinitis pigmentosa type 49 | NM_001142564.1 | NM_001142564.1:c.2179delA, NM_001142564.1:c.2134C>T, NM_001142564.1:c.1747C>T, NM_001142564.1:c.1166C>T, NM_001142564.1:c.1001G>A, NM_001142564.1:c.656+2T>C, NM_001142564.1:c.445G>T, NM_001142564.1:c.304dupA |
| CNGB1 | Retinitis pigmentosa type 45 | NM_001297.4 | NM_001297.4:c.3462+1G>A, NM_001297.4:c.3425delT, NM_001297.4:c.3150delG, NM_001297.4:c.2762_2765delACGA, NM_001297.4:c.2653delG, NM_001297.4:c.2492+2T>G, NM_001297.4:c.1958-1G>A, NM_001297.4:c.1122-2A>T, NM_001297.4:c.952C>T, NM_001297.4:c.413-1G>A, NM_001297.4:c.218-2A>G |
| CNGB3 | Achromatopsia type 3 | NM_019098.4 | NM_019098.4:c.2048_2049delCA, NM_019098.4:c.2011G>T, NM_019098.4:c.1148delC, NM_019098.4:c.1063C>T, NM_019098.4:c.893_897delCAAAA, NM_019098.4:c.887_896delCTTCTACAAA, NM_019098.4:c.886_890delACTTC, NM_019098.4:c.819_826delCAGACTCC, NM_019098.4:c.446_447insT |
| COL11A1 | Fibrochondrogenesis type 1 | NM_080629.2 | NM_080629.2:c.3745-1G>A, NM_080629.2:c.2386G>C, NM_080629.2:c.1786dupG |
| COL17A1 | Epidermolysis bullosa, junctional, non-Herlitz type | NM_000494.3 | NM_000494.3:c.4319dupC, NM_000494.3:c.4003_4004delGG, NM_000494.3:c.3908G>A, NM_000494.3:c.3897_3900delATCT, NM_000494.3:c.3827dupC, NM_000494.3:c.3795delC, NM_000494.3:c.3676C>T, NM_000494.3:c.3277+1G>A, NM_000494.3:c.3067C>T, NM_000494.3:c.3043C>T, NM_000494.3:c.2965delA, NM_000494.3:c.2944_2947+1delGAAGG, NM_000494.3:c.2564T>G, NM_000494.3:c.2551+1G>T, NM_000494.3:c.2430_2431insCCGA, NM_000494.3:c.2383C>T, NM_000494.3:c.2336-1G>T, NM_000494.3:c.2336-2A>G, NM_000494.3:c.2228-3_2235delCAGGTCCTGCTinsTTG, NM_000494.3:c.1898G>A, NM_000494.3:c.1706delC, NM_000494.3:c.520_521delAG, NM_000494.3:c.433C>T |
| COL18A1 | Knobloch syndrome, type 1 | NM_130444.2 | NM_130444.2:c.1700_1701insGACGTGAAAGAGGGG, NM_130444.2:c.2240_2241insGACGTGAAAGAGGGG, NM_130444.2:c.3294_3295delAG, NM_130444.2:c.3502C>T, NM_130444.2:c.4072_4084delCCCCCAGGCCCAC, NM_130444.2:c.4214_4223delCAGGGCCCCC, NM_130444.2:c.4222_4223delCC, NM_130444.2:c.4323_4323+1delGG, NM_130444.2:c.4759_4760delCT, NM_130444.2:c.5168dupG |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular type | NM_000089.3 | NM_000089.3:c.133-1G>A, NM_000089.3:c.241_248delTATGATGG, NM_000089.3:c.293dupC, NM_000089.3:c.1404+1G>A, NM_000089.3:c.1404+1G>C, NM_000089.3:c.3601G>T |
| COL4A3 | Alport syndrome, autosomal recessive | NM_000091.4 | NM_000091.4:c.345delG, NM_000091.4:c.898G>A, NM_000091.4:c.2083G>A, NM_000091.4:c.2111delC, NM_000091.4:c.2954G>T, NM_000091.4:c.4420_4424delCTTTT, NM_000091.4:c.4441C>T, NM_000091.4:c.4571C>G |
| COL4A4 | Alport syndrome, autosomal recessive | NM_000092.4 | NM_000092.4:c.4923C>A, NM_000092.4:c.4129C>T, NM_000092.4:c.3713C>A, NM_000092.4:c.3601G>A, NM_000092.4:c.2312delG, NM_000092.4:c.71+1G>A |
| COL7A1 | Epidermolysis bullosa dystrophica, AR | NM_000094.3 | NM_000094.3:c.8524_8527+10delGAAGGTGAGGACAG, NM_000094.3:c.8479C>T, NM_000094.3:c.8440C>T, NM_000094.3:c.8393T>A, NM_000094.3:c.8245G>A, NM_000094.3:c.7957G>A, NM_000094.3:c.7930-1G>C, NM_000094.3:c.7912G>T, NM_000094.3:c.7411C>T, NM_000094.3:c.7345-1G>A, NM_000094.3:c.6946G>A, NM_000094.3:c.6859G>A, NM_000094.3:c.6752G>A, NM_000094.3:c.6670G>T, NM_000094.3:c.6573+1G>T, NM_000094.3:c.6527dupC, NM_000094.3:c.6205C>T, NM_000094.3:c.6187C>T, NM_000094.3:c.6091G>A, NM_000094.3:c.5821-1G>A, NM_000094.3:c.5532+1G>A, NM_000094.3:c.5287C>T, NM_000094.3:c.5096C>T, NM_000094.3:c.5052+1G>A, NM_000094.3:c.4888C>T, NM_000094.3:c.4783G>C, NM_000094.3:c.4373C>T, NM_000094.3:c.4119+1G>T, NM_000094.3:c.4039G>C, NM_000094.3:c.3831+1G>T, NM_000094.3:c.2471dupG, NM_000094.3:c.933C>A, NM_000094.3:c.887delG, NM_000094.3:c.706C>T, NM_000094.3:c.425A>G, NM_000094.3:c.336C>G |
| COL9A1 | Stickler syndrome, type 4 | NM_001851.4 | NM_001851.4:c.883C>T, NM_001851.4:c.706C>T |
| COQ2 | Primary coenzyme Q10 deficiency, type 1 | NM_015697.7 | NM_015697.7:c.1197delT, NM_015697.7:c.890A>G, NM_015697.7:c.723delT, NM_015697.7:c.683A>G, NM_015697.7:c.590G>A |
| COQ8A | Primary coenzyme Q10 deficiency, type 4 | NM_020247.4 | NM_020247.4:c.589-3C>G, NM_020247.4:c.637C>T, NM_020247.4:c.815G>A, NM_020247.4:c.815G>T, NM_020247.4:c.911C>T, NM_020247.4:c.1541A>G, NM_020247.4:c.1645G>A, NM_020247.4:c.1651G>A, NM_020247.4:c.1750_1752delACC, NM_020247.4:c.1813dupG |
| CPS1 | Carbamoylphosphate synthetase 1 deficiency | NM_001122633.2 | NM_001122633.2:c.1649C>T, NM_001122633.2:c.1930C>T, NM_001122633.2:c.3574delA |
| CPT1A | Carnitine palmitoyltransferase type 1A deficiency, hepatic | NM_001876.3 | NM_001876.3:c.1436C>T, NM_001876.3:c.1393G>T, NM_001876.3:c.1361A>G, NM_001876.3:c.1241C>T, NM_001876.3:c.1216C>T, NM_001876.3:c.1079A>G, NM_001876.3:c.335_336delCC, NM_001876.3:c.298C>T, NM_001876.3:c.281+1G>A, NM_001876.3:c.222C>A |
| CPT2 | Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal | NM_000098.2 | NM_000098.2:c.149C>A, NM_000098.2:c.338C>T, NM_000098.2:c.359A>G, NM_000098.2:c.370C>T, NM_000098.2:c.452G>A, NM_000098.2:c.464dupT, NM_000098.2:c.520G>A, NM_000098.2:c.638A>G, NM_000098.2:c.680C>T, NM_000098.2:c.725_726delAC, NM_000098.2:c.886C>T, NM_000098.2:c.1148T>A, NM_000098.2:c.1237C>T, NM_000098.2:c.1239_1240delGA, NM_000098.2:c.1369A>T, NM_000098.2:c.1437C>G, NM_000098.2:c.1784delC, NM_000098.2:c.1883A>C, NM_000098.2:c.1891C>T |
| CRB1 | Retinitis pigmentosa type 12, AR; Leber congenital amaurosis type 8 | NM_201253.2 | NM_201253.2:c.498_506delAATTGATGG, NM_201253.2:c.613_619delATAGGAA, NM_201253.2:c.2290C>T, NM_201253.2:c.2401A>T, NM_201253.2:c.2416G>T, NM_201253.2:c.2688T>A, NM_201253.2:c.2983G>T, NM_201253.2:c.3055_3059dupTATAT, NM_201253.2:c.3122T>C, NM_201253.2:c.3299T>C, NM_201253.2:c.3299T>G, NM_201253.2:c.3383delT, NM_201253.2:c.3419T>A, NM_201253.2:c.3997G>T |
| CRLF1 | Cold-induced sweating syndrome type 1 | NM_004750.4 | NM_004750.4:c.1137C>G, NM_004750.4:c.1125delG, NM_004750.4:c.935G>A, NM_004750.4:c.856-1G>A, NM_004750.4:c.852G>T, NM_004750.4:c.845_846delTG, NM_004750.4:c.829C>T, NM_004750.4:c.713dupC, NM_004750.4:c.708_709delCCinsT, NM_004750.4:c.676dupA, NM_004750.4:c.538C>T, NM_004750.4:c.527+5G>A, NM_004750.4:c.413C>T, NM_004750.4:c.397+1G>A, NM_004750.4:c.303delC, NM_004750.4:c.226T>G |
| CRTAP | Osteogenesis imperfecta, type 7 | NM_006371.4 | NM_006371.4:c.180G>A, NM_006371.4:c.561T>G, NM_006371.4:c.634C>T, NM_006371.4:c.826C>T |
| CSTB | Epilepsy, progressive myoclonic type 1A (Unverricht and Lundborg) | NM_000100.3 | NM_000100.3:c.212A>C, NM_000100.3:c.202C>T |
| CTNS | Cystinosis (atypical/juvenile/ocular) nephropathic | NM_001031681.2 | NM_001031681.2:c.283G>T, NM_001031681.2:c.329G>T, NM_001031681.2:c.357_360delCAGC, NM_001031681.2:c.397_398delAT, NM_001031681.2:c.414G>A, NM_001031681.2:c.416C>T, NM_001031681.2:c.506G>A, NM_001031681.2:c.589G>A, NM_001031681.2:c.646dupA, NM_001031681.2:c.853-3C>G, NM_001031681.2:c.1015G>A |
| CTSD | Ceroid lipofuscinosis, neuronal, type 10 | NM_001909.4 | NM_001909.4:c.1149G>C, NM_001909.4:c.685T>A |
| CTSK | Pycnodysostosis | NM_000396.3 | NM_000396.3:c.926T>C, NM_000396.3:c.721C>T, NM_000396.3:c.436G>C, NM_000396.3:c.236G>A, NM_000396.3:c.154A>T |
| CYP21A2 | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | -0 | NM_000500.7:c.92C>T, NM_000500.7:c.293-13A/C>G, NM_000500.7:c.332_339del, NM_000500.7:c.518T>A, NM_000500.7:c.[710T>A;713T>A;719T>A], NM_000500.7:c.710T>A, NM_000500.7:c.713T>A, NM_000500.7:c.844G>T, NM_000500.7:c.923_924insT, NM_000500.7:c.955C>T, NM_000500.7:c.1069C>T, NM_000500.7:c.1360C>T, NM_000500.7:c.[710T>A;713T>A], NM_000500.7:c.[710T>A;719T>A], NM_000500.7:c.[713T>A;719T>A], Abnormal CNV, Large gene conversion, NM_000500.7:c.955C>T+CYP21A2dup |
| CYP4V2 | Bietti crystalline corneoretinal dystrophy | NM_207352.3 | NM_207352.3:c.130T>A, NM_207352.3:c.327+1G>A, NM_207352.3:c.332T>C, NM_207352.3:c.1523G>A |
| CYP7B1 | Spastic paraplegia type 5A, autosomal recessive | NM_004820.4 | NM_004820.4:c.1460dupT, NM_004820.4:c.1456C>T, NM_004820.4:c.1162C>T, NM_004820.4:c.889A>G, NM_004820.4:c.825T>A, NM_004820.4:c.321_324delACAA, NM_004820.4:c.187C>T |
| D2HGDH | D-2-hydroxyglutaric aciduria | NM_152783.4 | NM_152783.4:c.440T>G, NM_152783.4:c.1123G>T, NM_152783.4:c.1315A>G, NM_152783.4:c.1331T>C, NM_152783.4:c.1333_1334delAC |
| DBT | Maple syrup urine disease, type 2 | NM_001918.3 | NM_001918.3:c.1281+1G>A, NM_001918.3:c.939G>C, NM_001918.3:c.901C>T, NM_001918.3:c.871C>T, NM_001918.3:c.827T>G, NM_001918.3:c.772+1G>A, NM_001918.3:c.670G>T, NM_001918.3:c.581C>G, NM_001918.3:c.294C>G, NM_001918.3:c.272_275delCAGT, NM_001918.3:c.126T>G |
| DCLRE1C | Omenn syndrome; Severe combined immunodeficiency, Athabascan type | NM_001033855.2 | NM_001033855.2:c.1639G>T, NM_001033855.2:c.1558dupA, NM_001033855.2:c.780+1delG, NM_001033855.2:c.597C>A, NM_001033855.2:c.2T>C |
| DDB2 | Xeroderma pigmentosum, group E | NM_000107.2 | NM_000107.2:c.730A>G, NM_000107.2:c.818G>A, NM_000107.2:c.919G>T, NM_000107.2:c.937C>T |
| DDC | Aromatic L-amino acid decarboxylase deficiency | NM_000790.3 | NM_000790.3:c.1040G>A, NM_000790.3:c.823G>A, NM_000790.3:c.749C>T, NM_000790.3:c.304G>A, NM_000790.3:c.272C>T, NM_000790.3:c.100delG |
| DGUOK | DGUOK-related mitochondrial DNA depletion syndrome | NM_080916.2 | NM_080916.2:c.137A>G, NM_080916.2:c.313C>T, NM_080916.2:c.425G>A, NM_080916.2:c.494A>T, NM_080916.2:c.707+2T>G, NM_080916.2:c.763G>T |
| DHCR7 | Smith-Lemli-Opitz syndrome | NM_001163817.1 | NM_001163817.1:c.1342G>A, NM_001163817.1:c.1337G>A, NM_001163817.1:c.1228G>A, NM_001163817.1:c.1210C>T, NM_001163817.1:c.1055G>A, NM_001163817.1:c.1054C>T, NM_001163817.1:c.976G>T, NM_001163817.1:c.964-1G>C, NM_001163817.1:c.907G>A, NM_001163817.1:c.866C>T, NM_001163817.1:c.841G>A, NM_001163817.1:c.839A>G, NM_001163817.1:c.832-1G>C, NM_001163817.1:c.744G>T, NM_001163817.1:c.730G>A, NM_001163817.1:c.725G>A, NM_001163817.1:c.724C>T, NM_001163817.1:c.506C>T, NM_001163817.1:c.461C>G, NM_001163817.1:c.453G>A, NM_001163817.1:c.452G>A, NM_001163817.1:c.356A>T, NM_001163817.1:c.292C>T, NM_001163817.1:c.278C>T, NM_001163817.1:c.151C>T, NM_001163817.1:c.1A>G |
| DHDDS | Retinitis pigmentosa type 59 | NM_024887.3 | NM_024887.3:c.124A>G, NM_024887.3:c.330delA, NM_024887.3:c.998C>G |
| DKC1 | Dyskeratosis congenita, X-linked | NM_001363.4 | NM_001363.4:c.91C>A, NM_001363.4:c.91C>G, NM_001363.4:c.194G>C, NM_001363.4:c.196A>G, NM_001363.4:c.200C>T, NM_001363.4:c.204C>A, NM_001363.4:c.214_215delCTinsTA |
| DLD | Dihydrolipoamide dehydrogenase deficiency | NM_000108.4 | NM_000108.4:c.105_106insA, NM_000108.4:c.916_926delTGTGATGTACT, NM_000108.4:c.1483A>G |
| DLL3 | Spondylocostal dysostosis type 1 | NM_016941.3 | NM_016941.3:c.231C>A, NM_016941.3:c.712C>T |
| DMD | Duchenne/Becker muscular dystrophy | -0 | NM_004006.2:c.10774delA, NM_004006.2:c.10454delT, NM_004006.2:c.10453_10454delCT, NM_004006.2:c.10447_10448delTC, NM_004006.2:c.10141C>T, NM_004006.2:c.10086+1G>A, NM_004006.2:c.10033C>T, NM_004006.2:c.9854_9863delTGAGACTGGA, NM_004006.2:c.9862G>T, NM_004006.2:c.9851G>A, NM_004006.2:c.9767dupG, NM_004006.2:c.9650-2A>G, NM_004006.2:c.9568C>T, NM_004006.2:c.9564-1G>A, NM_004006.2:c.9380C>G, NM_004006.2:c.9361+1G>C, NM_004006.2:c.9361+1G>A, NM_004006.2:c.9346C>T, NM_004006.2:c.9337C>T, NM_004006.2:c.9164-1G>T, NM_004006.2:c.9164-1G>C, NM_004006.2:c.8944C>T, NM_004006.2:c.8713C>T, NM_004006.2:c.8656C>T, NM_004006.2:c.8652_8653delCT, NM_004006.2:c.8608C>T, NM_004006.2:c.8464C>T, NM_004006.2:c.8443C>T, NM_004006.2:c.8374_8375delAA, NM_004006.2:c.8358G>A, NM_004006.2:c.8086delC, NM_004006.2:c.8069T>G, NM_004006.2:c.8064_8065delTA, NM_004006.2:c.7922delA, NM_004006.2:c.7894C>T, NM_004006.2:c.7771G>T, NM_004006.2:c.7764dupT, NM_004006.2:c.7683G>A, NM_004006.2:c.7682G>A, NM_004006.2:c.6986dupA, NM_004006.2:c.6982A>T, NM_004006.2:c.6964delG, NM_004006.2:c.6943G>T, NM_004006.2:c.6936delA, NM_004006.2:c.6906G>A, NM_004006.2:c.6834delT, NM_004006.2:c.6763-2A>G, NM_004006.2:c.6391_6392dupCA, NM_004006.2:c.6391_6392delCA, NM_004006.2:c.6373C>T, NM_004006.2:c.6340A>T, NM_004006.2:c.6292C>T, NM_004006.2:c.6238delC, NM_004006.2:c.6226G>T, NM_004006.2:c.6182delC, NM_004006.2:c.6014_6017delCTCA, NM_004006.2:c.6000T>A, NM_004006.2:c.5899C>T, NM_004006.2:c.5807T>A, NM_004006.2:c.5773G>T, NM_004006.2:c.5697delA, NM_004006.2:c.5671A>T, NM_004006.2:c.5640T>A, NM_004006.2:c.5570_5571dupAA, NM_004006.2:c.5554C>T, NM_004006.2:c.5530C>T, NM_004006.2:c.5363C>G, NM_004006.2:c.5353C>T, NM_004006.2:c.5313dupT, NM_004006.2:c.5287C>T, NM_004006.2:c.4843A>T, NM_004006.2:c.4735G>T, NM_004006.2:c.4518+5G>A, NM_004006.2:c.4500delA, NM_004006.2:c.4486delG, NM_004006.2:c.4471_4472delAA, NM_004006.2:c.4409_4412dupGTCT, NM_004006.2:c.4405C>T, NM_004006.2:c.4375C>T, NM_004006.2:c.4117C>T, NM_004006.2:c.3779_3785delCTTTGGAinsGG, NM_004006.2:c.3747delG, NM_004006.2:c.3697delC, NM_004006.2:c.3639dupA, NM_004006.2:c.3432+3A>G, NM_004006.2:c.3432+1G>A, NM_004006.2:c.3295C>T, NM_004006.2:c.3276+1G>A, NM_004006.2:c.3246_3247insTTTCTAAAAA, NM_004006.2:c.3124A>T, NM_004006.2:c.3121C>T, NM_004006.2:c.3087G>A, NM_004006.2:c.3076G>T, NM_004006.2:c.3022A>T, NM_004006.2:c.2929dupC, NM_004006.2:c.2866C>T, NM_004006.2:c.2815_2816delTT, NM_004006.2:c.2816T>A, NM_004006.2:c.2804-1G>A, NM_004006.2:c.2804-2A>T, NM_004006.2:c.2803+1G>T, NM_004006.2:c.2803+1G>A, NM_004006.2:c.2758C>T, NM_004006.2:c.2755A>T, NM_004006.2:c.2650C>T, NM_004006.2:c.2547delT, NM_004006.2:c.2523delA, NM_004006.2:c.2484T>G, NM_004006.2:c.2479delG, NM_004006.2:c.2380+2T>C, NM_004006.2:c.2380+1G>C, NM_004006.2:c.2332C>T, NM_004006.2:c.2302C>T, NM_004006.2:c.2294_2297delCCAT, NM_004006.2:c.2281_2285delGAAAA, NM_004006.2:c.2137C>T, NM_004006.2:c.2125delC, NM_004006.2:c.1900_1903dupAAGT, NM_004006.2:c.1900A>T, NM_004006.2:c.1886C>A, NM_004006.2:c.1734delA, NM_004006.2:c.1529_1530delTC, NM_004006.2:c.1489C>T, NM_004006.2:c.1371delG, NM_004006.2:c.1341_1342dupAG, NM_004006.2:c.1332-9A>G, NM_004006.2:c.1306dupG, NM_004006.2:c.1286C>A, NM_004006.2:c.1261C>T, NM_004006.2:c.1070delC, NM_004006.2:c.1048G>T, NM_004006.2:c.1012G>T, NM_004006.2:c.676_678delAAG, NM_004006.2:c.627delA, NM_004006.2:c.615T>A, NM_004006.2:c.583C>T, NM_004006.2:c.530+1delG, NM_004006.2:c.489G>A, NM_004006.2:c.433C>T, NM_004006.2:c.412_413delAA, NM_004006.2:c.251delT, NM_004006.2:c.220delC, NM_004006.2:c.204dupC, NM_004006.2:c.199G>T, NM_004006.2:c.160_162delCTC, NM_004006.2:c.137_138dupAT, NM_004006.2:c.133C>T, delDuchenne, insDuchenne, delBecker, insBecker |
| DMP1 | Hypophosphatemic rickets, autosomal recessive | NM_004407.3 | NM_004407.3:c.1A>G, NM_004407.3:c.31delT, NM_004407.3:c.55-1G>C, NM_004407.3:c.362delC |
| DNAJC19 | 3-methylglutaconic aciduria, type 5 | NM_145261.3 | NM_145261.3:c.300delA |
| DPAGT1 | Congenital disorder of glycosylation, type 1j | NM_001382.3 | NM_001382.3:c.980_981delCT, NM_001382.3:c.791T>G, NM_001382.3:c.643+1G>A, NM_001382.3:c.358C>A, NM_001382.3:c.349G>A |
| DPM1 | Congenital disorder of glycosylation, type 1e | NM_001317034.1 | NM_001317034.1:c.847T>C, NM_001317034.1:c.784-1G>T, NM_001317034.1:c.733delC, NM_001317034.1:c.669-1G>A, NM_001317034.1:c.274C>G |
| DPYD | Dihydropyrimidine dehydrogenase deficiency | NM_000110.3 | NM_000110.3:c.1905+1G>A, NM_000110.3:c.1679T>G, NM_000110.3:c.1109_1110delTA, NM_000110.3:c.299_302delTCAT |
| DSP | Cardiomyopathy, dilated, with woolly hair and keratoderma; Epidermolysis bullosa, lethal acantholytic | NM_004415.3 | NM_004415.3:c.3098delA, NM_004415.3:c.5800C>T, NM_004415.3:c.6370_6371delCT, NM_004415.3:c.7000C>T, NM_004415.3:c.7180_7181delAG, NM_004415.3:c.8188C>T |
| DYSF | Miyoshi muscular dystrophy, type 1; Muscular dystrophy, limb-girdle, autosomal recessive, type 2 | NM_001130978.1 | NM_001130978.1:c.1481-1G>A |
| DYSF | Miyoshi muscular dystrophy, type 1; Muscular dystrophy, limb-girdle, autosomal recessive, type 2 | NM_001130987.1 | NM_001130987.1:c.203_204delTGinsAT, NM_001130987.1:c.396_397delCC, NM_001130987.1:c.706C>T, NM_001130987.1:c.759+1G>C, NM_001130987.1:c.797G>A, NM_001130987.1:c.853C>T, NM_001130987.1:c.991G>A, NM_001130987.1:c.991G>T, NM_001130987.1:c.1033+1G>A, NM_001130987.1:c.1149+1G>A, NM_001130987.1:c.1372G>A, NM_001130987.1:c.1380+2T>C, NM_001130987.1:c.1464C>A, NM_001130987.1:c.1488dupA, NM_001130987.1:c.1494-2A>G, NM_001130987.1:c.1494-1G>A, NM_001130987.1:c.1609G>A, NM_001130987.1:c.1674delA, NM_001130987.1:c.1692+2T>A, NM_001130987.1:c.1717C>T, NM_001130987.1:c.1867C>T, NM_001130987.1:c.1888C>T, NM_001130987.1:c.1927G>T, NM_001130987.1:c.2924_2928delAGACC, NM_001130987.1:c.2923C>T, NM_001130987.1:c.3051G>T, NM_001130987.1:c.3095A>G, NM_001130987.1:c.3166C>T, NM_001130987.1:c.3229-2A>T, NM_001130987.1:c.3498_3499delTGinsAA, NM_001130987.1:c.3531C>A, NM_001130987.1:c.3532C>T, NM_001130987.1:c.3695delC, NM_001130987.1:c.3762delA, NM_001130987.1:c.3859G>T, NM_001130987.1:c.3957+1delG, NM_001130987.1:c.4011delC, NM_001130987.1:c.4144C>T, NM_001130987.1:c.4162_4163delGT, NM_001130987.1:c.4307G>A, NM_001130987.1:c.4873C>T, NM_001130987.1:c.4989_4993delGCCCGinsCCCC, NM_001130987.1:c.5194C>T, NM_001130987.1:c.5318A>G, NM_001130987.1:c.5383C>T, NM_001130987.1:c.5458-2A>C, NM_001130987.1:c.5546G>A, NM_001130987.1:c.5546+1G>T, NM_001130987.1:c.5614G>T, NM_001130987.1:c.5626G>A, NM_001130987.1:c.5642+1G>A, NM_001130987.1:c.5711delG, NM_001130987.1:c.5761C>T, NM_001130987.1:c.5815_5816delAG, NM_001130987.1:c.5830C>T, NM_001130987.1:c.5953_5956delCAGC, NM_001130987.1:c.6096dupA, NM_001130987.1:c.6109G>T, NM_001130987.1:c.6241C>T |
| EDA | Ectodermal dysplasia, type 1, hypohidrotic, X-linked | NM_001399.4 | NM_001399.4:c.181T>C, NM_001399.4:c.183C>G, NM_001399.4:c.187G>A, NM_001399.4:c.463C>T, NM_001399.4:c.466C>T, NM_001399.4:c.467G>A, NM_001399.4:c.573_574insT, NM_001399.4:c.671G>C, NM_001399.4:c.826C>T, NM_001399.4:c.1045G>A |
| EDN3 | Waardenburg syndrome, type 4B | NM_207034.2 | NM_207034.2:c.262_263delGCinsT, NM_207034.2:c.277C>G, NM_207034.2:c.476G>T, NM_207034.2:c.568_569delGA |
| EDNRB | ABCD syndrome | NM_001201397.1 | NM_001201397.1:c.1098G>T, NM_001201397.1:c.818C>G, NM_001201397.1:c.46delC |
| EIF2AK3 | Wolcott-Rallison syndrome | NM_004836.6 | NM_004836.6:c.1763G>A, NM_004836.6:c.994G>T |
| ELP1 | Dysautonomia, familial | NM_003640.4 | NM_003640.4:c.3332delC, NM_003640.4:c.2741C>T, NM_003640.4:c.2328delT, NM_003640.4:c.2204+6T>C, NM_003640.4:c.2087G>C, NM_003640.4:c.1460+2T>C |
| EMD | Emery-Dreifuss muscular dystrophy, type 1, X-linked | NM_000117.2 | NM_000117.2:c.547C>A, NM_000117.2:c.631_635delCGTGC |
| ENPP1 | Arterial calcification, generalized, of infancy, type 1 | NM_006208.2 | NM_006208.2:c.783C>G, NM_006208.2:c.797G>T, NM_006208.2:c.900G>A, NM_006208.2:c.913C>A, NM_006208.2:c.1025G>T, NM_006208.2:c.1112A>T, NM_006208.2:c.1612G>C, NM_006208.2:c.2230C>T, NM_006208.2:c.2677G>T, NM_006208.2:c.2702A>C |
| ERCC2 | Trichothiodystrophy, type 1 | NM_000400.3 | NM_000400.3:c.2230_2233dupCTAG, NM_000400.3:c.2176C>T, NM_000400.3:c.2047C>T, NM_000400.3:c.1972C>T, NM_000400.3:c.1703_1704delTT, NM_000400.3:c.1621A>C, NM_000400.3:c.1454T>C, NM_000400.3:c.1381C>G, NM_000400.3:c.1354C>T, NM_000400.3:c.1308-1G>A, NM_000400.3:c.950-2A>G, NM_000400.3:c.949+1G>A, NM_000400.3:c.719-1G>A, NM_000400.3:c.567G>A, NM_000400.3:c.183+2T>A |
| ERCC3 | Trichothiodystrophy, type 2 | NM_000122.1 | NM_000122.1:c.1858delG, NM_000122.1:c.1757_1758delAG, NM_000122.1:c.1757delA, NM_000122.1:c.1633C>T, NM_000122.1:c.1273C>T, NM_000122.1:c.296T>C |
| ERCC5 | Cerebrooculofacioskeletal syndrome, type 3 | NM_000123.3 | NM_000123.3:c.88+2T>C, NM_000123.3:c.215C>A, NM_000123.3:c.381-2A>G, NM_000123.3:c.406C>T, NM_000123.3:c.464dupA, NM_000123.3:c.526C>T, NM_000123.3:c.787C>T, NM_000123.3:c.2144dupA, NM_000123.3:c.2375C>T, NM_000123.3:c.2573T>C, NM_000123.3:c.2751delA |
| ERCC6 | Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome, type 1 | NM_000124.3 | NM_000124.3:c.3862C>T, NM_000124.3:c.3591_3592dupGA, NM_000124.3:c.2587C>T, NM_000124.3:c.2203C>T, NM_000124.3:c.2047C>T, NM_000124.3:c.1550G>A, NM_000124.3:c.1357C>T, NM_000124.3:c.422+1G>A, NM_000124.3:c.207dupG, NM_000124.3:c.48_49delCT |
| ERCC8 | Cockayne syndrome, type A | NM_000082.3 | NM_000082.3:c.966C>A, NM_000082.3:c.618-1G>A, NM_000082.3:c.593_594dupAT, NM_000082.3:c.37G>T |
| ESCO2 | Roberts syndrome | NM_001017420.2 | NM_001017420.2:c.296_297dupGA, NM_001017420.2:c.308_309delAA, NM_001017420.2:c.505C>T, NM_001017420.2:c.604C>T, NM_001017420.2:c.876_879delCAGA, NM_001017420.2:c.879_880delAG, NM_001017420.2:c.1269G>A, NM_001017420.2:c.1597dupT, NM_001017420.2:c.1615T>G |
| ESPN | Deafness, autosomal recessive, type 36 | NM_031475.2 | NM_031475.2:c.1988_1991delAGAG, NM_031475.2:c.2470_2473delTCAG |
| ESRRB | Deafness, autosomal recessive, type 35 | NM_004452.3 | NM_004452.3:c.329C>T |
| ETFA | Glutaric acidemia, type 2A | NM_000126.3 | NM_000126.3:c.797C>T, NM_000126.3:c.470T>G |
| ETFB | Glutaric acidemia, type 2B | NM_001014763.1 | NM_001014763.1:c.887_889delAGA, NM_001014763.1:c.764G>A, NM_001014763.1:c.655G>A, NM_001014763.1:c.551_552insG, NM_001014763.1:c.334C>T, NM_001014763.1:c.278_279insG |
| ETFDH | Glutaric acidemia, type 2C | NM_004453.3 | NM_004453.3:c.2T>C, NM_004453.3:c.250G>A, NM_004453.3:c.413T>G, NM_004453.3:c.524G>T, NM_004453.3:c.1001T>C, NM_004453.3:c.1234G>T, NM_004453.3:c.1367C>T, NM_004453.3:c.1570_1571delCT, NM_004453.3:c.1823delG, NM_004453.3:c.1832G>A |
| ETHE1 | Ethylmalonic encephalopathy | NM_014297.4 | NM_014297.4:c.604dupG, NM_014297.4:c.554T>G, NM_014297.4:c.488G>A, NM_014297.4:c.487C>T, NM_014297.4:c.440_450delACAGCATGGCC, NM_014297.4:c.221dupA |
| EYS | Retinitis pigmentosa, type 25 | NM_001292009.1 | NM_001292009.1:c.9468T>A, NM_001292009.1:c.9362_9365delCTCA, NM_001292009.1:c.9099delT, NM_001292009.1:c.8711_8718delCATGCAGA, NM_001292009.1:c.8692_8695dupACAG, NM_001292009.1:c.8632G>T, NM_001292009.1:c.8471dupA, NM_001292009.1:c.7822C>T, NM_001292009.1:c.7095T>G, NM_001292009.1:c.6170delA, NM_001292009.1:c.6102dupT, NM_001292009.1:c.5928-2A>G, NM_001292009.1:c.5857G>T, NM_001292009.1:c.5757dupT, NM_001292009.1:c.4462_4469dupAGCCCCTC, NM_001292009.1:c.4350_4356delTATAGCT, NM_001292009.1:c.4120C>T, NM_001292009.1:c.4045C>T, NM_001292009.1:c.2826_2827delAT, NM_001292009.1:c.1211dupA, NM_001292009.1:c.571dupA, NM_001292009.1:c.490C>T, NM_001292009.1:c.232delT, NM_001292009.1:c.103C>T |
| F11 | Factor XI deficiency, autosomal recessive | NM_000128.3 | NM_000128.3:c.166T>C, NM_000128.3:c.403G>T, NM_000128.3:c.438C>A, NM_000128.3:c.595+3A>G, NM_000128.3:c.901T>C, NM_000128.3:c.1211C>A, NM_000128.3:c.1613C>T, NM_000128.3:c.1693G>A |
| F8 | Hemophilia A | -0 | Inv22 |
| F8 | Hemophilia A | NM_000132.3 | NM_000132.3:c.7033_7040delTGCGAGGC, NM_000132.3:c.7034G>A, NM_000132.3:c.7031G>A, NM_000132.3:c.7030G>T, NM_000132.3:c.7030G>A, NM_000132.3:c.7021G>T, NM_000132.3:c.7016G>T, NM_000132.3:c.7012delC, NM_000132.3:c.6997delG, NM_000132.3:c.6996G>A, NM_000132.3:c.6995G>C, NM_000132.3:c.6988delC, NM_000132.3:c.6986C>T, NM_000132.3:c.6976C>G, NM_000132.3:c.6914_6918delATCAA, NM_000132.3:c.6915delT, NM_000132.3:c.6905T>C, NM_000132.3:c.6904T>G, NM_000132.3:c.6901-2A>G, NM_000132.3:c.6900+1G>A, NM_000132.3:c.6887delA, NM_000132.3:c.6870G>A, NM_000132.3:c.6869G>T, NM_000132.3:c.6857_6867delATGGCCATCAG, NM_000132.3:c.6865C>T, NM_000132.3:c.6842T>C, NM_000132.3:c.6839T>C, NM_000132.3:c.6836T>G, NM_000132.3:c.6836T>C, NM_000132.3:c.6825T>A, NM_000132.3:c.6804delA, NM_000132.3:c.6797delG, NM_000132.3:c.6797G>A, NM_000132.3:c.6796G>A, NM_000132.3:c.6780_6788delAGGAGTAAC, NM_000132.3:c.6786_6787insCAA, NM_000132.3:c.6760delC, NM_000132.3:c.6760C>T, NM_000132.3:c.6752T>A, NM_000132.3:c.6746T>G, NM_000132.3:c.6743G>C, NM_000132.3:c.6740_6741delAG, NM_000132.3:c.6739G>T, NM_000132.3:c.6738delA, NM_000132.3:c.6574+5G>C, NM_000132.3:c.6574+3A>C, NM_000132.3:c.6574+1G>T, NM_000132.3:c.6574+1G>A, NM_000132.3:c.6565_6566delGA, NM_000132.3:c.6551A>T, NM_000132.3:c.6548T>G, NM_000132.3:c.6544C>G, NM_000132.3:c.6537C>G, NM_000132.3:c.6533G>A, NM_000132.3:c.6520C>G, NM_000132.3:c.6515C>G, NM_000132.3:c.6501delC, NM_000132.3:c.6497delG, NM_000132.3:c.6494delC, NM_000132.3:c.6489delT, NM_000132.3:c.6488T>G, NM_000132.3:c.6482C>T, NM_000132.3:c.6482C>A, NM_000132.3:c.6477delT, NM_000132.3:c.6469_6470delAA, NM_000132.3:c.6465delA, NM_000132.3:c.6464_6465delAA, NM_000132.3:c.6449A>T, NM_000132.3:c.6430-3C>G, NM_000132.3:c.6273+1G>A, NM_000132.3:c.6269T>A, NM_000132.3:c.6263C>T, NM_000132.3:c.6253G>T, NM_000132.3:c.6250A>T, NM_000132.3:c.6243G>C, NM_000132.3:c.6242G>C, NM_000132.3:c.6239C>T, NM_000132.3:c.6213A>T, NM_000132.3:c.6194G>A, NM_000132.3:c.6136dupA, NM_000132.3:c.6134G>T, NM_000132.3:c.6130delC, NM_000132.3:c.6120T>A, NM_000132.3:c.6116-2A>G, NM_000132.3:c.6115+6T>A, NM_000132.3:c.6115+4A>G, NM_000132.3:c.6115+3G>T, NM_000132.3:c.6115+2T>C, NM_000132.3:c.6115+1G>A, NM_000132.3:c.6107A>G, NM_000132.3:c.6099delT, NM_000132.3:c.6089dupG, NM_000132.3:c.6084delG, NM_000132.3:c.6078_6079delTG, NM_000132.3:c.6070dupC, NM_000132.3:c.6046C>G, NM_000132.3:c.6037G>A, NM_000132.3:c.6016G>T, NM_000132.3:c.5999G>C, NM_000132.3:c.5964_5967dupGGAG, NM_000132.3:c.5961delA, NM_000132.3:c.5960_5961delAA, NM_000132.3:c.5954G>C, NM_000132.3:c.5953delC, NM_000132.3:c.5939A>C, NM_000132.3:c.5934T>G, NM_000132.3:c.5923dupA, NM_000132.3:c.5924T>A, NM_000132.3:c.5914_5915delAT, NM_000132.3:c.5894G>T, NM_000132.3:c.5888T>C, NM_000132.3:c.5884T>G, NM_000132.3:c.5881T>A, NM_000132.3:c.5879G>T, NM_000132.3:c.5869C>T, NM_000132.3:c.5861_5866delCTCAGG, NM_000132.3:c.5853A>C, NM_000132.3:c.5833A>G, NM_000132.3:c.5825G>T, NM_000132.3:c.5816C>A, NM_000132.3:c.5766C>A, NM_000132.3:c.5752delT, NM_000132.3:c.5721C>G, NM_000132.3:c.5719dupA, NM_000132.3:c.5719A>T, NM_000132.3:c.5712G>C, NM_000132.3:c.5697delC, NM_000132.3:c.5696dupT, NM_000132.3:c.5689_5690delCT, NM_000132.3:c.5686G>C, NM_000132.3:c.5680G>A, NM_000132.3:c.5675dupT, NM_000132.3:c.5674G>A, NM_000132.3:c.5348_5357delGAGCAGAAGT, NM_000132.3:c.5345T>G, NM_000132.3:c.5343T>A, NM_000132.3:c.5339C>T, NM_000132.3:c.5337delG, NM_000132.3:c.5330T>C, NM_000132.3:c.5321A>T, NM_000132.3:c.5308G>A, NM_000132.3:c.5301C>A, NM_000132.3:c.5291A>G, NM_000132.3:c.5269delT, NM_000132.3:c.5269T>C, NM_000132.3:c.5254delG, NM_000132.3:c.5251A>T, NM_000132.3:c.5243delA, NM_000132.3:c.5227_5228delAG, NM_000132.3:c.5220-1G>A, NM_000132.3:c.5012G>A, NM_000132.3:c.5010delT, NM_000132.3:c.4999delC, NM_000132.3:c.4996C>T, NM_000132.3:c.4987A>T, NM_000132.3:c.4979C>T, NM_000132.3:c.4969C>T, NM_000132.3:c.4942C>T, NM_000132.3:c.4935G>A, NM_000132.3:c.4934G>A, NM_000132.3:c.4926delA, NM_000132.3:c.4922dupT, NM_000132.3:c.4918G>T, NM_000132.3:c.4899delT, NM_000132.3:c.4895dupT, NM_000132.3:c.4895delT, NM_000132.3:c.4864G>A, NM_000132.3:c.4858delC, NM_000132.3:c.4848delC, NM_000132.3:c.4841delA, NM_000132.3:c.4828G>T, NM_000132.3:c.4825delA, NM_000132.3:c.4814C>A, NM_000132.3:c.4806delA, NM_000132.3:c.4805_4806delAA, NM_000132.3:c.4798A>T, NM_000132.3:c.4794G>T, NM_000132.3:c.4770T>A, NM_000132.3:c.4719_4729delTGCAAAGACTC, NM_000132.3:c.4720delG, NM_000132.3:c.4712_4715delAAAG, NM_000132.3:c.4694_4697delTTCT, NM_000132.3:c.4687delG, NM_000132.3:c.4686delA, NM_000132.3:c.4662_4663delGA, NM_000132.3:c.4658delA, NM_000132.3:c.4619delT, NM_000132.3:c.4561C>T, NM_000132.3:c.4542delT, NM_000132.3:c.4519delA, NM_000132.3:c.4512delG, NM_000132.3:c.4492_4496delGTTCT, NM_000132.3:c.4492_4493delGT, NM_000132.3:c.4492delG, NM_000132.3:c.4483delG, NM_000132.3:c.4483G>T, NM_000132.3:c.4474A>T, NM_000132.3:c.4473C>G, NM_000132.3:c.4473C>A, NM_000132.3:c.4460delA, NM_000132.3:c.4450delA, NM_000132.3:c.4446dupG, NM_000132.3:c.4430_4431delAG, NM_000132.3:c.4425_4426delAA, NM_000132.3:c.4423C>T, NM_000132.3:c.4408G>T, NM_000132.3:c.4382_4383delAC, NM_000132.3:c.4363C>T, NM_000132.3:c.4345G>T, NM_000132.3:c.4339dupG, NM_000132.3:c.4339delG, NM_000132.3:c.4318delT, NM_000132.3:c.4296_4300delTTCTC, NM_000132.3:c.4280delT, NM_000132.3:c.4272delC, NM_000132.3:c.4265_4266delAT, NM_000132.3:c.4242dupA, NM_000132.3:c.4241C>A, NM_000132.3:c.4201C>T, NM_000132.3:c.4199delC, NM_000132.3:c.4156C>T, NM_000132.3:c.4103delC, NM_000132.3:c.4094_4100delATTTGAC, NM_000132.3:c.4072C>T, NM_000132.3:c.4045delA, NM_000132.3:c.4035delA, NM_000132.3:c.4006C>T, NM_000132.3:c.3994_3997delAGAG, NM_000132.3:c.3991_3992delAA, NM_000132.3:c.3984dupA, NM_000132.3:c.3982C>T, NM_000132.3:c.3967C>T, NM_000132.3:c.3964C>T, NM_000132.3:c.3922G>T, NM_000132.3:c.3913C>T, NM_000132.3:c.3907_3911delACCAA, NM_000132.3:c.3902delA, NM_000132.3:c.3870dupA, NM_000132.3:c.3863dupC, NM_000132.3:c.3860delT, NM_000132.3:c.3851_3852delCA, NM_000132.3:c.3844A>T, NM_000132.3:c.3842_3844delAGAinsGG, NM_000132.3:c.3833delA, NM_000132.3:c.3830delC, NM_000132.3:c.3827C>G, NM_000132.3:c.3772delT, NM_000132.3:c.3766G>T, NM_000132.3:c.3756delG, NM_000132.3:c.3735_3744delCCTTTTCTTAinsATTTCTTTTTCTTT, NM_000132.3:c.3736delC, NM_000132.3:c.3710delC, NM_000132.3:c.3652delG, NM_000132.3:c.3631A>T, NM_000132.3:c.3624delT, NM_000132.3:c.3607G>T, NM_000132.3:c.3565dupA, NM_000132.3:c.3548_3549delAA, NM_000132.3:c.3500dupA, NM_000132.3:c.3496A>T, NM_000132.3:c.3493G>T, NM_000132.3:c.3490delT, NM_000132.3:c.3421C>T, NM_000132.3:c.3417dupT, NM_000132.3:c.3416_3417delCT, NM_000132.3:c.3409_3410delCT, NM_000132.3:c.3388delA, NM_000132.3:c.3385delC, NM_000132.3:c.3371C>A, NM_000132.3:c.3344delT, NM_000132.3:c.3302_3303delAG, NM_000132.3:c.3300delA, NM_000132.3:c.3298A>T, NM_000132.3:c.3289C>T, NM_000132.3:c.3251C>G, NM_000132.3:c.3224delC, NM_000132.3:c.3203_3204delGA, NM_000132.3:c.3196C>T, NM_000132.3:c.3152delT, NM_000132.3:c.3150_3151insTC, NM_000132.3:c.3053delA, NM_000132.3:c.3034G>C, NM_000132.3:c.3031A>T, NM_000132.3:c.2412_2421delCTCCTCTAGT, NM_000132.3:c.2419dupA, NM_000132.3:c.2409delT, NM_000132.3:c.2404C>T, NM_000132.3:c.2397delT, NM_000132.3:c.2384_2388delGAACA, NM_000132.3:c.2373dupG, NM_000132.3:c.2360delA, NM_000132.3:c.2102_2106delTGGAA, NM_000132.3:c.2097G>A, NM_000132.3:c.2096T>A, NM_000132.3:c.2095A>T, NM_000132.3:c.2095A>G, NM_000132.3:c.2095A>C, NM_000132.3:c.2089_2090delGT, NM_000132.3:c.2090T>A, NM_000132.3:c.2066T>G, NM_000132.3:c.2060T>C, NM_000132.3:c.2058_2059delAC, NM_000132.3:c.2057C>G, NM_000132.3:c.2032A>T, NM_000132.3:c.2029T>C, NM_000132.3:c.2015_2017delTCT, NM_000132.3:c.2000delT, NM_000132.3:c.1996_1999dupGACT, NM_000132.3:c.1996_1999delGACT, NM_000132.3:c.1990_1991delCA, NM_000132.3:c.1991A>C, NM_000132.3:c.1988C>T, NM_000132.3:c.1985G>C, NM_000132.3:c.1952A>C, NM_000132.3:c.1947_1950delTTTG, NM_000132.3:c.1941_1944delAGTT, NM_000132.3:c.1934A>C, NM_000132.3:c.1913G>A, NM_000132.3:c.1912G>A, NM_000132.3:c.1904-1G>A, NM_000132.3:c.1904-37G>A, NM_000132.3:c.1752+5G>C, NM_000132.3:c.1736A>T, NM_000132.3:c.1726G>T, NM_000132.3:c.1703G>T, NM_000132.3:c.1688C>G, NM_000132.3:c.1682A>C, NM_000132.3:c.1681G>A, NM_000132.3:c.1675G>T, NM_000132.3:c.1667T>A, NM_000132.3:c.1661G>A, NM_000132.3:c.1653T>G, NM_000132.3:c.1640G>A, NM_000132.3:c.1639T>C, NM_000132.3:c.1630G>A, NM_000132.3:c.1619C>G, NM_000132.3:c.1618C>A, NM_000132.3:c.1596dupG, NM_000132.3:c.1596G>A, NM_000132.3:c.1595G>A, NM_000132.3:c.1594T>G, NM_000132.3:c.1585A>G, NM_000132.3:c.1560delT, NM_000132.3:c.1538-1G>T, NM_000132.3:c.1538-2A>T, NM_000132.3:c.1477A>G, NM_000132.3:c.1463C>T, NM_000132.3:c.1463C>G, NM_000132.3:c.1443+3A>C, NM_000132.3:c.1443+2T>C, NM_000132.3:c.1442_1443dupTG, NM_000132.3:c.1443+1G>A, NM_000132.3:c.1432G>A, NM_000132.3:c.1420G>T, NM_000132.3:c.1410_1413delTTTA, NM_000132.3:c.1406G>C, NM_000132.3:c.1400T>G, NM_000132.3:c.1397G>A, NM_000132.3:c.1394C>G, NM_000132.3:c.1390G>T, NM_000132.3:c.1357G>T, NM_000132.3:c.1348T>G, NM_000132.3:c.1338delA, NM_000132.3:c.1336dupC, NM_000132.3:c.1337G>C, NM_000132.3:c.1337G>A, NM_000132.3:c.1331_1332delAA, NM_000132.3:c.1331_1332delAAinsT, NM_000132.3:c.1331A>C, NM_000132.3:c.1325A>G, NM_000132.3:c.1324T>C, NM_000132.3:c.1324T>A, NM_000132.3:c.1316G>A, NM_000132.3:c.1311delG, NM_000132.3:c.1301G>A, NM_000132.3:c.1293delG, NM_000132.3:c.1234T>C, NM_000132.3:c.1214T>G, NM_000132.3:c.1207C>G, NM_000132.3:c.1203G>A, NM_000132.3:c.1202G>A, NM_000132.3:c.1200_1201delTT, NM_000132.3:c.1189dupC, NM_000132.3:c.1175C>G, NM_000132.3:c.1175C>A, NM_000132.3:c.1172G>C, NM_000132.3:c.1165delC, NM_000132.3:c.1077_1080delTGAA, NM_000132.3:c.1078_1079delGA, NM_000132.3:c.1042T>C, NM_000132.3:c.986G>T, NM_000132.3:c.985dupT, NM_000132.3:c.986G>C, NM_000132.3:c.986G>A, NM_000132.3:c.984delT, NM_000132.3:c.974_975delTT, NM_000132.3:c.967G>A, NM_000132.3:c.948_951delAACA, NM_000132.3:c.943delG, NM_000132.3:c.941C>T, NM_000132.3:c.935delT, NM_000132.3:c.920T>G, NM_000132.3:c.919delA, NM_000132.3:c.907delG, NM_000132.3:c.902G>C, NM_000132.3:c.899A>T, NM_000132.3:c.899A>C, NM_000132.3:c.889delG, NM_000132.3:c.886C>T, NM_000132.3:c.883T>C, NM_000132.3:c.872A>G, NM_000132.3:c.871G>T, NM_000132.3:c.850G>T, NM_000132.3:c.850G>A, NM_000132.3:c.849delT, NM_000132.3:c.836T>A, NM_000132.3:c.832G>A, NM_000132.3:c.824A>G, NM_000132.3:c.822G>A, NM_000132.3:c.796G>T, NM_000132.3:c.788-1G>T, NM_000132.3:c.788-1G>C, NM_000132.3:c.788-1G>A, NM_000132.3:c.788-2A>T, NM_000132.3:c.787+2T>C, NM_000132.3:c.787G>C, NM_000132.3:c.779C>G, NM_000132.3:c.775A>T, NM_000132.3:c.770_771insCC, NM_000132.3:c.764G>A, NM_000132.3:c.760A>T, NM_000132.3:c.755C>A, NM_000132.3:c.729delT, NM_000132.3:c.709C>T, NM_000132.3:c.695_698delAGAA, NM_000132.3:c.688_689delGA, NM_000132.3:c.685_686delTC, NM_000132.3:c.680G>A, NM_000132.3:c.676A>T, NM_000132.3:c.577G>A, NM_000132.3:c.571C>T, NM_000132.3:c.566C>A, NM_000132.3:c.560T>A, NM_000132.3:c.557A>G, NM_000132.3:c.556G>A, NM_000132.3:c.553A>G, NM_000132.3:c.545A>T, NM_000132.3:c.535T>C, NM_000132.3:c.532C>G, NM_000132.3:c.525C>A, NM_000132.3:c.519_523delTACCT, NM_000132.3:c.514_515insTCAAGATA, NM_000132.3:c.515G>A, NM_000132.3:c.514T>C, NM_000132.3:c.493C>T, NM_000132.3:c.489T>A, NM_000132.3:c.476T>C, NM_000132.3:c.472C>T, NM_000132.3:c.471G>A, NM_000132.3:c.446delC, NM_000132.3:c.440T>A, NM_000132.3:c.435_436insTTT, NM_000132.3:c.433G>C, NM_000132.3:c.430G>T, NM_000132.3:c.421G>T, NM_000132.3:c.415C>T, NM_000132.3:c.407A>C, NM_000132.3:c.405T>A, NM_000132.3:c.404A>G, NM_000132.3:c.403G>A, NM_000132.3:c.265+1G>T, NM_000132.3:c.265G>A, NM_000132.3:c.255_257delACC, NM_000132.3:c.250A>G, NM_000132.3:c.230T>C, NM_000132.3:c.225T>A, NM_000132.3:c.224delA, NM_000132.3:c.223G>T, NM_000132.3:c.217T>C, NM_000132.3:c.214G>A, NM_000132.3:c.209T>C, NM_000132.3:c.201_202dupGA, NM_000132.3:c.203C>A, NM_000132.3:c.201G>T, NM_000132.3:c.199_200delAA, NM_000132.3:c.200A>C, NM_000132.3:c.199A>G, NM_000132.3:c.195C>A, NM_000132.3:c.185C>G, NM_000132.3:c.173delC, NM_000132.3:c.144-5C>G, NM_000132.3:c.144-11T>G, NM_000132.3:c.144-26A>T, NM_000132.3:c.143+1G>A, NM_000132.3:c.120delC, NM_000132.3:c.98G>A, NM_000132.3:c.97T>G, NM_000132.3:c.88G>A, NM_000132.3:c.86T>G, NM_000132.3:c.77T>C, NM_000132.3:c.65G>C, NM_000132.3:c.1A>G |
| F9 | Hemophilia B | NM_000133.3 | NM_000133.3:c.82T>C, NM_000133.3:c.1031T>C, NM_000133.3:c.1136G>A, NM_000133.3:c.1150C>T |
| FAH | Tyrosinemia, type 1 | NM_000137.2 | NM_000137.2:c.47A>T, NM_000137.2:c.192G>T, NM_000137.2:c.401C>A, NM_000137.2:c.456G>A, NM_000137.2:c.554-1G>T, NM_000137.2:c.707-1G>A, NM_000137.2:c.782C>T, NM_000137.2:c.786G>A, NM_000137.2:c.837+1G>A, NM_000137.2:c.939delC, NM_000137.2:c.982C>T, NM_000137.2:c.1009G>A, NM_000137.2:c.1027G>T, NM_000137.2:c.1062+5G>A, NM_000137.2:c.1069G>T, NM_000137.2:c.1090G>T, NM_000137.2:c.1141A>G |
| FAM126A | Hypomyelinating leukodystrophy, type 5 | NM_032581.3 | NM_032581.3:c.158T>C |
| FAM20C | Raine syndrome | NM_020223.3 | NM_020223.3:c.1093G>C, NM_020223.3:c.1163T>G |
| FANCA | Fanconi anemia, complementation group A | NM_000135.2 | NM_000135.2:c.4130C>G, NM_000135.2:c.3788_3790delTCT, NM_000135.2:c.3763G>T, NM_000135.2:c.3558dupG, NM_000135.2:c.2303T>C, NM_000135.2:c.1115_1118delTTGG, NM_000135.2:c.233_236delTTGA, NM_000135.2:c.131dupA |
| FANCC | Fanconi anemia, complementation group C | NM_000136.2 | NM_000136.2:c.1642C>T, NM_000136.2:c.1487T>G, NM_000136.2:c.1103_1104delTG, NM_000136.2:c.1015delA, NM_000136.2:c.996+1G>T, NM_000136.2:c.67delG, NM_000136.2:c.37C>T |
| FANCG | Fanconi anemia, complementation group G | NM_004629.1 | NM_004629.1:c.1852_1853delAA, NM_004629.1:c.1795_1804delTGGATCCGTC, NM_004629.1:c.1480+1G>C, NM_004629.1:c.1077-2A>G, NM_004629.1:c.907_908dupCT, NM_004629.1:c.637_643delTACCGCC, NM_004629.1:c.510+1G>A, NM_004629.1:c.313G>T |
| FGA | Afibrinogenemia, congenital | NM_000508.4 | NM_000508.4:c.1441delG, NM_000508.4:c.1359dupC, NM_000508.4:c.1039C>T |
| FGA | Afibrinogenemia, congenital | NM_021871.3 | NM_021871.3:c.1906dupC |
| FGB | Congenital afibrinogenemia | NM_005141.4 | NM_005141.4:c.1148T>G, NM_005141.4:c.1289G>A |
| FGD4 | Charcot-Marie-Tooth disease, type 4H | NM_001304480.1 | NM_001304480.1:c.1006C>T, NM_001304480.1:c.1229T>C, NM_001304480.1:c.1229T>G, NM_001304480.1:c.1661G>A |
| FH | Fumarase deficiency | NM_000143.3 | NM_000143.3:c.1446_1449delAAAG, NM_000143.3:c.1431_1433dupAAA, NM_000143.3:c.1394A>G, NM_000143.3:c.1293delA, NM_000143.3:c.1255T>C, NM_000143.3:c.1236+1G>C, NM_000143.3:c.1200delT, NM_000143.3:c.1189G>A, NM_000143.3:c.1093A>G, NM_000143.3:c.1067T>A, NM_000143.3:c.901dupA, NM_000143.3:c.793G>A, NM_000143.3:c.760C>T, NM_000143.3:c.698G>A, NM_000143.3:c.697C>T, NM_000143.3:c.521C>G, NM_000143.3:c.320A>C, NM_000143.3:c.40dupC |
| FHL1 | Emery-Dreifuss muscular dystrophy, type 6, X-linked | NM_001159702.2 | NM_001159702.2:c.310T>C, NM_001159702.2:c.625T>C, NM_001159702.2:c.838G>A |
| FIG4 | Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndrome | NM_014845.5 | NM_014845.5:c.122T>C, NM_014845.5:c.311G>A, NM_014845.5:c.501C>G, NM_014845.5:c.547C>T, NM_014845.5:c.592C>T, NM_014845.5:c.737G>A, NM_014845.5:c.831_838delTAAATTTG, NM_014845.5:c.2299dupG |
| FKRP | Muscular dystrophy-dystroglycanopathy, type 5A, 5B and 5C | NM_001039885.2 | NM_001039885.2:c.160C>T, NM_001039885.2:c.1154C>A, NM_001039885.2:c.1343C>T, NM_001039885.2:c.1387A>G |
| FKTN | Muscular dystrophy-dystroglycanopathy, type 4A, 4B and 4C | NM_001079802.1 | NM_001079802.1:c.411C>A, NM_001079802.1:c.509C>A, NM_001079802.1:c.527T>C, NM_001079802.1:c.766C>T, NM_001079802.1:c.1112A>G, NM_001079802.1:c.1167dupA, NM_001079802.1:c.1380dupA |
| FLNA | FLNA-related disorders | NM_001110556.1 | NM_001110556.1:c.7757-1G>C, NM_001110556.1:c.7551_7552+6delAGGTGAGC, NM_001110556.1:c.7153C>T, NM_001110556.1:c.5132_5133delTCinsAA, NM_001110556.1:c.4777_4778dupAA, NM_001110556.1:c.4543C>T, NM_001110556.1:c.4446_4447dupAT, NM_001110556.1:c.3557C>T, NM_001110556.1:c.3476A>C, NM_001110556.1:c.2761C>T, NM_001110556.1:c.760G>A |
| FLVCR1 | Posterior column ataxia-retinitis pigmentosa syndrome | NM_014053.3 | NM_014053.3:c.361A>G, NM_014053.3:c.574T>C, NM_014053.3:c.739-2delA |
| FMR1 | Fragile X syndrome | -0 | (CGG)n pre-mutated allele |
| FOXN1 | T-cell immunodeficiency, congenital alopecia and nail dystrophy | NM_003593.2 | NM_003593.2:c.763C>T |
| FRAS1 | Fraser syndrome, type 1 | NM_025074.6 | NM_025074.6:c.835_838delGTGT, NM_025074.6:c.3799C>T, NM_025074.6:c.5605_5606insT, NM_025074.6:c.6433C>T, NM_025074.6:c.6991_6992insGG, NM_025074.6:c.7813C>T, NM_025074.6:c.11160_11167delGCTGGAGA |
| FREM2 | Fraser syndrome, type 2 | NM_207361.5 | NM_207361.5:c.2366dupC, NM_207361.5:c.3792_3795delTTAT, NM_207361.5:c.5920G>A, NM_207361.5:c.8409+1G>A |
| FUCA1 | Fucosidosis | NM_000147.4 | NM_000147.4:c.1279C>T, NM_000147.4:c.1229T>G, NM_000147.4:c.856C>T, NM_000147.4:c.648C>A, NM_000147.4:c.244C>T |
| G6PC | Glycogen storage disease, type 1A | NM_000151.3 | NM_000151.3:c.113A>T, NM_000151.3:c.229T>C, NM_000151.3:c.230+1G>C, NM_000151.3:c.247C>T, NM_000151.3:c.248G>A, NM_000151.3:c.370G>A, NM_000151.3:c.379_380dupTA, NM_000151.3:c.447-1G>A, NM_000151.3:c.497T>G, NM_000151.3:c.508C>T, NM_000151.3:c.562G>C, NM_000151.3:c.883C>T, NM_000151.3:c.1039C>T |
| G6PC | Glycogen storage disease, type 1A | NM_001270397.1 | NM_001270397.1:c.474G>A |
| G6PC3 | Dursun syndrome | NM_138387.3 | NM_138387.3:c.141C>G, NM_138387.3:c.346A>G, NM_138387.3:c.758G>A, NM_138387.3:c.778G>C, NM_138387.3:c.784G>C, NM_138387.3:c.935dupT |
| GAA | Glycogen storage disease 2 | NM_000152.4 | NM_000152.4:c.118C>T, NM_000152.4:c.236_246delCCACACAGTGC, NM_000152.4:c.307T>G, NM_000152.4:c.525delT, NM_000152.4:c.546+2_546+5delTGGG, NM_000152.4:c.546G>A, NM_000152.4:c.546G>C, NM_000152.4:c.655G>A, NM_000152.4:c.698delA, NM_000152.4:c.768dupT, NM_000152.4:c.853C>T, NM_000152.4:c.877G>A, NM_000152.4:c.925G>A, NM_000152.4:c.1064T>C, NM_000152.4:c.1115A>T, NM_000152.4:c.1316T>A, NM_000152.4:c.1327-2A>G, NM_000152.4:c.1431delT, NM_000152.4:c.1465G>A, NM_000152.4:c.1548G>A, NM_000152.4:c.1552-3C>G, NM_000152.4:c.1561G>A, NM_000152.4:c.1585_1586delTCinsGT, NM_000152.4:c.1634C>T, NM_000152.4:c.1650dupG, NM_000152.4:c.1799G>A, NM_000152.4:c.1827_1828insA, NM_000152.4:c.1847dupA, NM_000152.4:c.1912G>T, NM_000152.4:c.1927G>A, NM_000152.4:c.1933G>T, NM_000152.4:c.1935C>A, NM_000152.4:c.2012T>G, NM_000152.4:c.2015G>A, NM_000152.4:c.2041-1G>A, NM_000152.4:c.2066_2070dupAGCCG, NM_000152.4:c.2105G>T, NM_000152.4:c.2237G>A, NM_000152.4:c.2238G>A, NM_000152.4:c.2238G>C, NM_000152.4:c.2512C>T, NM_000152.4:c.2544delC, NM_000152.4:c.2560C>T |
| GALC | Krabbe disease | NM_000153.3 | NM_000153.3:c.2056T>C, NM_000153.3:c.1964delC, NM_000153.3:c.1814dupA, NM_000153.3:c.1796T>G, NM_000153.3:c.1723_1724insT, NM_000153.3:c.1700A>C, NM_000153.3:c.1695delT, NM_000153.3:c.1592G>A, NM_000153.3:c.1591C>T, NM_000153.3:c.1586C>T, NM_000153.3:c.1543G>A, NM_000153.3:c.1489+1_1489+2delGT, NM_000153.3:c.1488_1489+2delTGGT, NM_000153.3:c.1488_1489delTG, NM_000153.3:c.1472delA, NM_000153.3:c.1161+2T>G, NM_000153.3:c.1153G>T, NM_000153.3:c.953C>G, NM_000153.3:c.658C>T, NM_000153.3:c.655C>T, NM_000153.3:c.628A>T, NM_000153.3:c.582+1G>A, NM_000153.3:c.453G>A, NM_000153.3:c.430delA, NM_000153.3:c.388G>A, NM_000153.3:c.205C>T |
| GALT | Galactosemia | NM_000155.3 | NM_000155.3:c.18delC, NM_000155.3:c.41delCinsTT, NM_000155.3:c.71_72insA, NM_000155.3:c.113A>C, NM_000155.3:c.118G>T, NM_000155.3:c.130G>A, NM_000155.3:c.132delG, NM_000155.3:c.152G>A, NM_000155.3:c.158G>A, NM_000155.3:c.199C>T, NM_000155.3:c.203A>C, NM_000155.3:c.220_221delCT, NM_000155.3:c.221T>C, NM_000155.3:c.253-2A>G, NM_000155.3:c.265T>G, NM_000155.3:c.289_291delAAC, NM_000155.3:c.290A>G, NM_000155.3:c.292G>A, NM_000155.3:c.329-2A>C, NM_000155.3:c.367C>T, NM_000155.3:c.386T>C, NM_000155.3:c.400delT, NM_000155.3:c.404C>T, NM_000155.3:c.413C>T, NM_000155.3:c.425T>A, NM_000155.3:c.428C>T, NM_000155.3:c.445dupG, NM_000155.3:c.442C>T, NM_000155.3:c.443G>A, NM_000155.3:c.502_504delGTG, NM_000155.3:c.505C>A, NM_000155.3:c.508-1G>C, NM_000155.3:c.512T>C, NM_000155.3:c.547C>A, NM_000155.3:c.552C>A, NM_000155.3:c.563A>G, NM_000155.3:c.565_578delGTATGGGCCAGCAG, NM_000155.3:c.568T>C, NM_000155.3:c.580T>C, NM_000155.3:c.584T>C, NM_000155.3:c.598delC, NM_000155.3:c.601C>T, NM_000155.3:c.602G>A, NM_000155.3:c.607G>A, NM_000155.3:c.610C>T, NM_000155.3:c.619C>T, NM_000155.3:c.626A>G, NM_000155.3:c.634C>T, NM_000155.3:c.688-2A>C, NM_000155.3:c.692G>A, NM_000155.3:c.719_728delTAGTACTGGT, NM_000155.3:c.772C>T, NM_000155.3:c.775C>T, NM_000155.3:c.790delC, NM_000155.3:c.790_792delCTAinsTAG, NM_000155.3:c.820+13A>G, NM_000155.3:c.844C>G, NM_000155.3:c.855G>T, NM_000155.3:c.904+1G>T, NM_000155.3:c.905-2A>G, NM_000155.3:c.939G>A, NM_000155.3:c.947G>A, NM_000155.3:c.957C>A, NM_000155.3:c.985T>C, NM_000155.3:c.997C>G, NM_000155.3:c.997C>T, NM_000155.3:c.998G>A, NM_000155.3:c.1006A>T, NM_000155.3:c.1030C>A, NM_000155.3:c.1048delA, NM_000155.3:c.1052delC, NM_000155.3:c.1138T>C |
| GAMT | Cerebral creatine deficiency syndrome type 2 | NM_138924.2 | NM_138924.2:c.506G>A |
| GAN | Giant axonal neuropathy, type 1 | NM_022041.3 | NM_022041.3:c.413G>A, NM_022041.3:c.505G>A, NM_022041.3:c.601C>T, NM_022041.3:c.1268T>C, NM_022041.3:c.1429C>T, NM_022041.3:c.1447C>T, NM_022041.3:c.1456G>A |
| GBA | Gaucher disease | NM_000157.3 | NM_000157.3:c.1604G>A, NM_000157.3:c.1504C>T, NM_000157.3:c.1448T>G, NM_000157.3:c.1448T>C, NM_000157.3:c.1361C>G, NM_000157.3:c.1348T>A, NM_000157.3:c.1343A>T, NM_000157.3:c.1342G>C, NM_000157.3:c.1319C>T, NM_000157.3:c.1309G>T, NM_000157.3:c.1307T>C, NM_000157.3:c.1301G>C, NM_000157.3:c.1297G>T, NM_000157.3:c.1295G>T, NM_000157.3:c.1274dupA, NM_000157.3:c.1246G>A, NM_000157.3:c.1240G>T, NM_000157.3:c.1240G>C, NM_000157.3:c.1228C>G, NM_000157.3:c.1226A>G, NM_000157.3:c.1208G>C, NM_000157.3:c.1192C>T, NM_000157.3:c.1184C>T, NM_000157.3:c.1174C>G, NM_000157.3:c.1171G>C, NM_000157.3:c.1141T>G, NM_000157.3:c.1098dupA, NM_000157.3:c.1090G>A, NM_000157.3:c.1085C>T, NM_000157.3:c.1060G>C, NM_000157.3:c.1053G>T, NM_000157.3:c.1049A>G, NM_000157.3:c.1043C>T, NM_000157.3:c.914delC, NM_000157.3:c.586A>C, NM_000157.3:c.509G>T, NM_000157.3:c.508C>T, NM_000157.3:c.487delG, NM_000157.3:c.481C>T, NM_000157.3:c.476G>A, NM_000157.3:c.475C>T, NM_000157.3:c.431T>G, NM_000157.3:c.407C>A, NM_000157.3:c.354G>C, NM_000157.3:c.259C>T, NM_000157.3:c.254G>A, NM_000157.3:c.160G>T, NM_000157.3:c.115+1G>A, NM_000157.3:c.84dupG |
| GBE1 | Glycogen storage disease, type 4 | NM_000158.3 | NM_000158.3:c.2052+1G>A, NM_000158.3:c.1883A>G, NM_000158.3:c.1774G>T, NM_000158.3:c.1604A>G, NM_000158.3:c.1571G>A, NM_000158.3:c.1570C>T, NM_000158.3:c.1543C>T, NM_000158.3:c.986A>C, NM_000158.3:c.771T>A, NM_000158.3:c.466_470delCGTAT |
| GCDH | Glutaricaciduria, type 1 | NM_000159.3 | NM_000159.3:c.74C>A, NM_000159.3:c.271+1G>A, NM_000159.3:c.383G>A, NM_000159.3:c.416C>T, NM_000159.3:c.542A>G, NM_000159.3:c.572T>C, NM_000159.3:c.636-1G>A, NM_000159.3:c.680G>C, NM_000159.3:c.743C>T, NM_000159.3:c.751C>T, NM_000159.3:c.764C>T, NM_000159.3:c.769C>T, NM_000159.3:c.877G>A, NM_000159.3:c.883T>C, NM_000159.3:c.914C>T, NM_000159.3:c.1002_1003delGA, NM_000159.3:c.1060G>A, NM_000159.3:c.1093G>A, NM_000159.3:c.1168G>C, NM_000159.3:c.1198G>A, NM_000159.3:c.1199dupT, NM_000159.3:c.1204C>T, NM_000159.3:c.1244-2A>C, NM_000159.3:c.1247C>T, NM_000159.3:c.1262C>T |
| GDAP1 | Charcot-Marie-Tooth disease, recessive intermediate, type A | NM_018972.2 | NM_018972.2:c.92G>A, NM_018972.2:c.311-1G>A, NM_018972.2:c.358C>T, NM_018972.2:c.487C>T, NM_018972.2:c.715C>T, NM_018972.2:c.844C>T |
| GFM1 | Combined oxidative phosphorylation deficiency, type 1 | NM_001308164.1 | NM_001308164.1:c.139C>T, NM_001308164.1:c.521A>G, NM_001308164.1:c.805C>T, NM_001308164.1:c.1354_1357delGACA, NM_001308164.1:c.1589_1590delAG |
| GJA1 | Craniometaphyseal dysplasia, autosomal recessive | NM_000165.4 | NM_000165.4:c.97C>T, NM_000165.4:c.227G>A |
| GJB2 | Deafness, autosomal recessive, type 1A | NM_004004.5 | NM_004004.5:c.617A>G, NM_004004.5:c.551G>C, NM_004004.5:c.550C>T, NM_004004.5:c.516G>A, NM_004004.5:c.465T>A, NM_004004.5:c.439G>A, NM_004004.5:c.427C>T, NM_004004.5:c.416G>A, NM_004004.5:c.402delG, NM_004004.5:c.365A>T, NM_004004.5:c.358_360delGAG, NM_004004.5:c.334_335delAA, NM_004004.5:c.313_326delAAGTTCATCAAGGG, NM_004004.5:c.310_323delAGGAAGTTCATCAA, NM_004004.5:c.299_300delAT, NM_004004.5:c.299A>T, NM_004004.5:c.270dupA, NM_004004.5:c.269dupT, NM_004004.5:c.269T>C, NM_004004.5:c.250G>T, NM_004004.5:c.250G>C, NM_004004.5:c.239A>C, NM_004004.5:c.238C>T, NM_004004.5:c.235delC, NM_004004.5:c.231G>A, NM_004004.5:c.230G>A, NM_004004.5:c.229T>C, NM_004004.5:c.169C>T, NM_004004.5:c.139G>T, NM_004004.5:c.132G>A, NM_004004.5:c.35delG |
| GJB6 | Deafness, autosomal recessive, type 1B | NM_001110219.2 | NM_001110219.2:c.485dupA, NM_001110219.2:c.443delC, NM_001110219.2:c.383_384delTA, NM_001110219.2:c.261dupA, NM_001110219.2:c.169C>T, NM_001110219.2:c.14C>T |
| GJC2 | Spastic paraplegia, type 44, autosomal recessive | NM_020435.3 | NM_020435.3:c.268C>T, NM_020435.3:c.613C>T, NM_020435.3:c.718C>T, NM_020435.3:c.787G>A, NM_020435.3:c.814T>G, NM_020435.3:c.857T>C |
| GLB1 | GM1-gangliosidosis, type 1 | NM_001317040.1 | NM_001317040.1:c.1877A>G, NM_001317040.1:c.1790C>T, NM_001317040.1:c.1721dupG, NM_001317040.1:c.1693G>T, NM_001317040.1:c.1600_1610dupGGTGCATATAT, NM_001317040.1:c.1589G>A, NM_001317040.1:c.1514G>A, NM_001317040.1:c.1513C>T, NM_001317040.1:c.1499dupA, NM_001317040.1:c.1469G>A, NM_001317040.1:c.1465G>A, NM_001317040.1:c.1457G>A, NM_001317040.1:c.1318_1319delCT, NM_001317040.1:c.1212+1G>T, NM_001317040.1:c.1195C>T, NM_001317040.1:c.1148C>T, NM_001317040.1:c.1091A>G, NM_001317040.1:c.1045G>A, NM_001317040.1:c.962G>T, NM_001317040.1:c.766C>T, NM_001317040.1:c.746G>A, NM_001317040.1:c.745C>T, NM_001317040.1:c.735dupT, NM_001317040.1:c.601+2T>C, NM_001317040.1:c.586C>T, NM_001317040.1:c.586C>A, NM_001317040.1:c.582_584delTCT, NM_001317040.1:c.420G>A, NM_001317040.1:c.346C>T, NM_001317040.1:c.320G>A, NM_001317040.1:c.319C>T, NM_001317040.1:c.315C>G, NM_001317040.1:c.296T>C, NM_001317040.1:c.289C>T |
| GLDC | Glycine encephalopathy | NM_000170.2 | NM_000170.2:c.2405C>T, NM_000170.2:c.2284G>A, NM_000170.2:c.2216G>A, NM_000170.2:c.1691G>T, NM_000170.2:c.1545G>C, NM_000170.2:c.1166C>T, NM_000170.2:c.322G>T |
| GLE1 | Lethal congenital contracture syndrome, type 1 | NM_001003722.1 | NM_001003722.1:c.898-2A>G, NM_001003722.1:c.1412_1413delAG, NM_001003722.1:c.2051T>C, NM_001003722.1:c.2069_2072delTTCT |
| GM2A | GM2-gangliosidosis, AB variant | NM_000405.4 | NM_000405.4:c.160G>T, NM_000405.4:c.285delC, NM_000405.4:c.506G>C |
| GNE | Inclusion body myopathy, type 2 (Nonaka myopathy) | NM_001128227.2 | NM_001128227.2:c.2228T>C, NM_001128227.2:c.2179G>A, NM_001128227.2:c.1937C>G, NM_001128227.2:c.1891G>A, NM_001128227.2:c.1820G>A, NM_001128227.2:c.1002T>A, NM_001128227.2:c.880C>T, NM_001128227.2:c.830G>A, NM_001128227.2:c.478C>T |
| GNPTAB | Mucolipidosis 2 alpha/beta | NM_024312.4 | NM_024312.4:c.3663delG, NM_024312.4:c.3565C>T, NM_024312.4:c.3560_3561delAG, NM_024312.4:c.3503_3504delTC, NM_024312.4:c.3410T>A, NM_024312.4:c.3326dupA, NM_024312.4:c.3173C>G, NM_024312.4:c.2896delA, NM_024312.4:c.2383delG, NM_024312.4:c.1906dupA, NM_024312.4:c.1759C>T, NM_024312.4:c.1196C>T, NM_024312.4:c.1000C>T, NM_024312.4:c.749dupA, NM_024312.4:c.732_733delAA, NM_024312.4:c.648_651delAGAA, NM_024312.4:c.616_619delACAG, NM_024312.4:c.99delC, NM_024312.4:c.25C>T, NM_024312.4:c.10A>C |
| GNS | Mucopolysaccharidosis, type 3D (Sanfilippo D) | NM_002076.3 | NM_002076.3:c.1226dupG, NM_002076.3:c.1169delA, NM_002076.3:c.1168C>T, NM_002076.3:c.1063C>T, NM_002076.3:c.413C>G |
| GPR143 | Ocular albinism, type 1 (Nettleship-Falls type) | NM_000273.2 | NM_000273.2:c.992_993insCG, NM_000273.2:c.695C>A |
| GPR179 | Night blindness, congenital stationary (complete), type 1E, autosomal recessive | NM_001004334.3 | NM_001004334.3:c.6847_6848delCT, NM_001004334.3:c.5763_5764delGA, NM_001004334.3:c.5693dupT, NM_001004334.3:c.4699_4700delAG, NM_001004334.3:c.3233_3234delCT, NM_001004334.3:c.1807C>T, NM_001004334.3:c.1784+1G>A, NM_001004334.3:c.1368delT, NM_001004334.3:c.1236G>A, NM_001004334.3:c.984delC, NM_001004334.3:c.839_842delATCA, NM_001004334.3:c.278dupC, NM_001004334.3:c.278delC |
| GRHPR | Hyperoxaluria, primary, type 2 | NM_012203.1 | NM_012203.1:c.103delG, NM_012203.1:c.295C>T, NM_012203.1:c.435G>A, NM_012203.1:c.622C>T, NM_012203.1:c.755dupA |
| GRM6 | Night blindness, congenital stationary (complete), type 1B, autosomal recessive | NM_000843.3 | NM_000843.3:c.2560C>T, NM_000843.3:c.2341G>A, NM_000843.3:c.2213_2219delCCAGAGG, NM_000843.3:c.2122C>T, NM_000843.3:c.1861C>T, NM_000843.3:c.1565G>A, NM_000843.3:c.1336C>T, NM_000843.3:c.1258C>T, NM_000843.3:c.1214T>C, NM_000843.3:c.727dupG, NM_000843.3:c.719_720insG, NM_000843.3:c.712C>T |
| GRXCR1 | Deafness, autosomal recessive, type 25 | NM_001080476.2 | NM_001080476.2:c.229C>T, NM_001080476.2:c.710_711delAT |
| GSS | Glutathione synthetase deficiency | NM_000178.3 | NM_000178.3:c.847C>T, NM_000178.3:c.832C>T, NM_000178.3:c.799C>T, NM_000178.3:c.754C>T, NM_000178.3:c.656A>G, NM_000178.3:c.656A>C, NM_000178.3:c.491G>A |
| GUCY2D | Leber congenital amaurosis, type 1 | NM_000180.3 | NM_000180.3:c.456C>A, NM_000180.3:c.622delC, NM_000180.3:c.1694T>C, NM_000180.3:c.2735_2736delTT, NM_000180.3:c.2945delG |
| GUSB | Mucopolysaccharidosis, type 7 | NM_000181.3 | NM_000181.3:c.1881G>T, NM_000181.3:c.1856C>T, NM_000181.3:c.1831C>T, NM_000181.3:c.1730G>T, NM_000181.3:c.1618G>T, NM_000181.3:c.1534G>A, NM_000181.3:c.1521G>A, NM_000181.3:c.1429C>T, NM_000181.3:c.1338G>A, NM_000181.3:c.1337G>A, NM_000181.3:c.1244+1G>A, NM_000181.3:c.1219_1220insC, NM_000181.3:c.1144C>T, NM_000181.3:c.1084G>A, NM_000181.3:c.1065+1G>T, NM_000181.3:c.1061C>T, NM_000181.3:c.1050G>C, NM_000181.3:c.866G>A, NM_000181.3:c.820_821delAC, NM_000181.3:c.646C>T, NM_000181.3:c.526C>T, NM_000181.3:c.499C>T, NM_000181.3:c.442C>T |
| HADHA | LCHAD deficiency | NM_000182.4 | NM_000182.4:c.2146+1G>A, NM_000182.4:c.2132dupC, NM_000182.4:c.1918C>T, NM_000182.4:c.1793_1794delAT, NM_000182.4:c.1678C>T, NM_000182.4:c.1644delC, NM_000182.4:c.1620+2_1620+6delTAAGG, NM_000182.4:c.1528G>C, NM_000182.4:c.1422dupT, NM_000182.4:c.1132C>T, NM_000182.4:c.919-2A>G, NM_000182.4:c.845T>A, NM_000182.4:c.499delA, NM_000182.4:c.274_278delTCATC |
| HADHB | Trifunctional protein deficiency | NM_000183.2 | NM_000183.2:c.788A>G, NM_000183.2:c.1331G>A, NM_000183.2:c.1364T>G |
| HBA1/HBA2 | Thalassemia, alpha- | -0 | -?3.7, -?4.2, -(?)20.5, --SEA, --MED, --FIL, --THAI |
| HBB | HBB-related hemoglobinopathy | NM_000518.4 | NM_000518.4:c.*110T>C, NM_000518.4:c.440_441dupAC, NM_000518.4:c.440A>T, NM_000518.4:c.440A>C, NM_000518.4:c.439C>G, NM_000518.4:c.438T>A, NM_000518.4:c.437A>G, NM_000518.4:c.436T>C, NM_000518.4:c.435G>C, NM_000518.4:c.431A>C, NM_000518.4:c.428C>A, NM_000518.4:c.421G>A, NM_000518.4:c.383A>C, NM_000518.4:c.371_378delCCCCACCA, NM_000518.4:c.364G>T, NM_000518.4:c.364G>A, NM_000518.4:c.347C>A, NM_000518.4:c.344T>C, NM_000518.4:c.343_344delCTinsG, NM_000518.4:c.341T>A, NM_000518.4:c.332T>C, NM_000518.4:c.328delG, NM_000518.4:c.328G>A, NM_000518.4:c.323dupG, NM_000518.4:c.320T>G, NM_000518.4:c.316-1G>T, NM_000518.4:c.316-1G>A, NM_000518.4:c.316-2A>G, NM_000518.4:c.316-2A>C, NM_000518.4:c.316-3C>A, NM_000518.4:c.316-106C>G, NM_000518.4:c.316-146T>G, NM_000518.4:c.316-197C>T, NM_000518.4:c.315+2T>G, NM_000518.4:c.315+1G>C, NM_000518.4:c.315+1G>A, NM_000518.4:c.312C>G, NM_000518.4:c.306G>C, NM_000518.4:c.305A>G, NM_000518.4:c.304G>A, NM_000518.4:c.302C>T, NM_000518.4:c.299A>T, NM_000518.4:c.299A>G, NM_000518.4:c.299A>C, NM_000518.4:c.298G>T, NM_000518.4:c.298G>C, NM_000518.4:c.298G>A, NM_000518.4:c.295G>A, NM_000518.4:c.293A>T, NM_000518.4:c.287dupA, NM_000518.4:c.282_283dupTG, NM_000518.4:c.283G>C, NM_000518.4:c.277C>T, NM_000518.4:c.277C>A, NM_000518.4:c.275T>C, NM_000518.4:c.271G>T, NM_000518.4:c.269G>A, NM_000518.4:c.268A>C, NM_000518.4:c.257T>C, NM_000518.4:c.251delG, NM_000518.4:c.248A>T, NM_000518.4:c.248A>C, NM_000518.4:c.247A>G, NM_000518.4:c.230delC, NM_000518.4:c.226delC, NM_000518.4:c.217_221delAGTGAinsT, NM_000518.4:c.217dupA, NM_000518.4:c.216dupT, NM_000518.4:c.208G>A, NM_000518.4:c.206T>A, NM_000518.4:c.203_204delTG, NM_000518.4:c.201delA, NM_000518.4:c.199A>G, NM_000518.4:c.194delG, NM_000518.4:c.190C>T, NM_000518.4:c.184A>T, NM_000518.4:c.182T>A, NM_000518.4:c.179A>C, NM_000518.4:c.176C>G, NM_000518.4:c.162delT, NM_000518.4:c.143_146dupATCT, NM_000518.4:c.143dupA, NM_000518.4:c.135delC, NM_000518.4:c.134C>G, NM_000518.4:c.130G>T, NM_000518.4:c.126_129delCTTT, NM_000518.4:c.128T>C, NM_000518.4:c.127T>G, NM_000518.4:c.127T>C, NM_000518.4:c.114_120delGACCCAG, NM_000518.4:c.117_118delCC, NM_000518.4:c.118C>T, NM_000518.4:c.114G>A, NM_000518.4:c.113G>A, NM_000518.4:c.112delT, NM_000518.4:c.110delC, NM_000518.4:c.108C>A, NM_000518.4:c.103G>T, NM_000518.4:c.93G>T, NM_000518.4:c.93-1G>C, NM_000518.4:c.93-1G>A, NM_000518.4:c.93-2A>C, NM_000518.4:c.93-21G>A, NM_000518.4:c.92+6T>C, NM_000518.4:c.92+5G>T, NM_000518.4:c.92+5G>C, NM_000518.4:c.92+5G>A, NM_000518.4:c.92+2T>C, NM_000518.4:c.92+2T>A, NM_000518.4:c.92+1G>T, NM_000518.4:c.92+1G>A, NM_000518.4:c.92G>C, NM_000518.4:c.92G>A, NM_000518.4:c.91A>C, NM_000518.4:c.90C>T, NM_000518.4:c.86T>A, NM_000518.4:c.85dupC, NM_000518.4:c.82G>T, NM_000518.4:c.80A>G, NM_000518.4:c.79_80insT, NM_000518.4:c.79G>T, NM_000518.4:c.79G>A, NM_000518.4:c.75T>A, NM_000518.4:c.68_74delAAGTTGG, NM_000518.4:c.64dupG, NM_000518.4:c.59A>G, NM_000518.4:c.52A>T, NM_000518.4:c.51delC, NM_000518.4:c.48G>A, NM_000518.4:c.47G>A, NM_000518.4:c.46delT, NM_000518.4:c.45dupG, NM_000518.4:c.36delT, NM_000518.4:c.27dupG, NM_000518.4:c.25_26delAA, NM_000518.4:c.20delA, NM_000518.4:c.20A>T, NM_000518.4:c.19G>A, NM_000518.4:c.17_18delCT, NM_000518.4:c.8A>C, NM_000518.4:c.4delG, NM_000518.4:c.4G>T, NM_000518.4:c.3G>A, NM_000518.4:c.2T>G, NM_000518.4:c.2T>C, NM_000518.4:c.2T>A, NM_000518.4:c.1A>G, NM_000518.4:c.-50A>C, NM_000518.4:c.-75G>C, NM_000518.4:c.-78A>G, NM_000518.4:c.-78A>C, NM_000518.4:c.-79A>G, NM_000518.4:c.-80T>A, NM_000518.4:c.-137C>G, NM_000518.4:c.-137C>A, NM_000518.4:c.-138C>T, NM_000518.4:c.-151C>T |
| HESX1 | Growth hormone deficiency with pituitary anomalies | NM_003865.2 | NM_003865.2:c.450_451delCA, NM_003865.2:c.445G>A, NM_003865.2:c.77T>C, NM_003865.2:c.18G>C |
| HEXA | Tay-Sachs disease | NM_000520.5 | NM_000520.5:c.254-1G>C |
| HEXA | Tay-Sachs disease | NM_001318825.1 | NM_001318825.1:c.1570C>T, NM_001318825.1:c.1561C>T, NM_001318825.1:c.1544G>A, NM_001318825.1:c.1543delC, NM_001318825.1:c.1543C>T, NM_001318825.1:c.1532delT, NM_001318825.1:c.1529G>A, NM_001318825.1:c.1528C>T, NM_001318825.1:c.1477G>A, NM_001318825.1:c.1455G>C, NM_001318825.1:c.1311_1312insTATC, NM_001318825.1:c.1307_1310dupTATC, NM_001318825.1:c.1293G>C, NM_001318825.1:c.1247_1248delAAinsG, NM_001318825.1:c.1210C>T, NM_001318825.1:c.1209G>A, NM_001318825.1:c.1020G>A, NM_001318825.1:c.1019+3A>G, NM_001318825.1:c.948_950delCTT, NM_001318825.1:c.838+1G>C, NM_001318825.1:c.838+1G>A, NM_001318825.1:c.838G>A, NM_001318825.1:c.805G>C, NM_001318825.1:c.782G>A, NM_001318825.1:c.705+1G>A, NM_001318825.1:c.665T>C, NM_001318825.1:c.662C>T, NM_001318825.1:c.573C>G, NM_001318825.1:c.571T>C, NM_001318825.1:c.566G>T, NM_001318825.1:c.566G>A, NM_001318825.1:c.565C>T, NM_001318825.1:c.542G>A, NM_001318825.1:c.541C>T, NM_001318825.1:c.492+5G>A, NM_001318825.1:c.413T>G, NM_001318825.1:c.173G>A, NM_001318825.1:c.116T>G, NM_001318825.1:c.78G>A, NM_001318825.1:c.77G>A, NM_001318825.1:c.2T>C, NM_001318825.1:c.1A>T, NM_001318825.1:c.1A>G |
| HEXB | Sandhoff disease, infantile, juvenile, and adult forms | NM_000521.3 | NM_000521.3:c.115delG, NM_000521.3:c.171delG, NM_000521.3:c.202_203insGG, NM_000521.3:c.298delC, NM_000521.3:c.508C>T, NM_000521.3:c.797A>G, NM_000521.3:c.841C>T, NM_000521.3:c.850C>T, NM_000521.3:c.1238_1242delCAAAG, NM_000521.3:c.1250C>T, NM_000521.3:c.1310_1311delCA, NM_000521.3:c.1345delT, NM_000521.3:c.1375G>T, NM_000521.3:c.1380G>A, NM_000521.3:c.1517_1529dupCAAGTGCTGTTGG, NM_000521.3:c.1539_1540delCT |
| HGD | Alkaptonuria | NM_000187.3 | NM_000187.3:c.1189-2A>G, NM_000187.3:c.1111dupC, NM_000187.3:c.1102A>G, NM_000187.3:c.899T>G, NM_000187.3:c.808G>A, NM_000187.3:c.688C>T, NM_000187.3:c.674G>A, NM_000187.3:c.481G>A, NM_000187.3:c.469+2T>C, NM_000187.3:c.342+1G>A, NM_000187.3:c.175delA, NM_000187.3:c.172A>T, NM_000187.3:c.140C>T, NM_000187.3:c.16-1G>A |
| HGF | Deafness, autosomal recessive, type 39 | NM_000601.5 | NM_000601.5:c.2028delA, NM_000601.5:c.1597C>T |
| HGSNAT | Mucopolysaccharidosis type 3C (Sanfilippo C) | NM_152419.2 | NM_152419.2:c.493+1G>A, NM_152419.2:c.607C>T, NM_152419.2:c.848C>T, NM_152419.2:c.1030C>T, NM_152419.2:c.1250+1G>A, NM_152419.2:c.1378-1G>A, NM_152419.2:c.1464+1G>A, NM_152419.2:c.1503delA, NM_152419.2:c.1553C>T, NM_152419.2:c.1622C>T |
| HIBCH | 3-hydroxyisobutryl-CoA hydrolase deficiency | NM_014362.3 | NM_014362.3:c.1012A>T, NM_014362.3:c.494_495delTT, NM_014362.3:c.365A>G, NM_014362.3:c.220-9T>G, NM_014362.3:c.79-3C>G |
| HMGCL | HMG-CoA lyase deficiency | NM_000191.2 | NM_000191.2:c.835G>A, NM_000191.2:c.698A>G, NM_000191.2:c.505_506delTC, NM_000191.2:c.230delT, NM_000191.2:c.206_207delCT, NM_000191.2:c.122G>A |
| HPD | Tyrosinemia, type 3 | NM_002150.2 | NM_002150.2:c.987delA, NM_002150.2:c.774T>G, NM_002150.2:c.600C>G |
| HPRT1 | Lesch-Nyhan syndrome | NM_000194.2 | NM_000194.2:c.486-1G>A, NM_000194.2:c.508C>T, NM_000194.2:c.532+2T>G, NM_000194.2:c.610-2A>G |
| HPS1 | Hermansky-Pudlak syndrome, type 1 | NM_000195.4 | NM_000195.4:c.1996G>T, NM_000195.4:c.972dupC, NM_000195.4:c.972delC, NM_000195.4:c.398+5G>A, NM_000195.4:c.397G>T |
| HSD17B4 | D-bifunctional protein deficiency | NM_000414.3 | NM_000414.3:c.46G>A |
| HSD17B4 | D-bifunctional protein deficiency | NM_001199291.2 | NM_001199291.2:c.392G>C, NM_001199291.2:c.725A>G, NM_001199291.2:c.1047+1G>T, NM_001199291.2:c.1444A>T |
| HSPD1 | Leukodystrophy, hypomyelinating, type 4 | NM_002156.4 | NM_002156.4:c.292G>A |
| HSPG2 | Dyssegmental dysplasia, Silverman-Handmaker type | NM_001291860.1 | NM_001291860.1:c.13078delC, NM_001291860.1:c.9329delA, NM_001291860.1:c.8467+4A>G, NM_001291860.1:c.1656_1657insT, NM_001291860.1:c.1125C>A |
| HTRA1 | CARASIL syndrome | NM_002775.4 | NM_002775.4:c.754G>A, NM_002775.4:c.883G>A, NM_002775.4:c.889G>A, NM_002775.4:c.904C>T, NM_002775.4:c.1108C>T |
| HYLS1 | Hydrolethalus syndrome | NM_001134793.1 | NM_001134793.1:c.632A>G, NM_001134793.1:c.669G>A, NM_001134793.1:c.724C>T |
| IDH3B | Retinitis pigmentosa, type 46 | NM_006899.4 | NM_006899.4:c.589delA, NM_006899.4:c.490C>T, NM_006899.4:c.395T>C |
| IDS | Mucopolysaccharidosis, type 2 | NM_000202.7 | NM_000202.7:c.1508T>A, NM_000202.7:c.1505G>C, NM_000202.7:c.1148delC, NM_000202.7:c.1122C>T, NM_000202.7:c.998C>T, NM_000202.7:c.880-8A>G, NM_000202.7:c.690_691insT, NM_000202.7:c.683C>T, NM_000202.7:c.596_599delAACA, NM_000202.7:c.597delA, NM_000202.7:c.587T>C, NM_000202.7:c.514C>T, NM_000202.7:c.404A>G, NM_000202.7:c.388_389insG, NM_000202.7:c.314_317dupTCAA, NM_000202.7:c.278delC, NM_000202.7:c.240+1G>A, NM_000202.7:c.208dupC |
| IDS | Mucopolysaccharidosis, type 2 | NM_001166550.3 | NM_001166550.3:c.15-2A>G |
| IFT80 | Short-rib thoracic dysplasia, type 2, with or without polydactyly | NM_020800.2 | NM_020800.2:c.701C>G, NM_020800.2:c.315C>G |
| IGF1 | Growth retardation with deafness and mental retardation due to IGF1 deficiency | NM_001111285.2 | NM_001111285.2:c.274G>A |
| IGHMBP2 | Charcot-Marie-Tooth disease, axonal, type 2S | NM_002180.2 | NM_002180.2:c.121C>T, NM_002180.2:c.638A>G, NM_002180.2:c.661delA, NM_002180.2:c.1107C>G, NM_002180.2:c.1488C>A, NM_002180.2:c.1540G>A, NM_002180.2:c.1738G>A, NM_002180.2:c.2362C>T, NM_002180.2:c.2611+1G>T |
| IL2RG | Severe combined immunodeficiency, X-linked | NM_000206.2 | NM_000206.2:c.854G>A, NM_000206.2:c.664C>T, NM_000206.2:c.454+1G>A, NM_000206.2:c.452T>C, NM_000206.2:c.355A>T, NM_000206.2:c.343T>C, NM_000206.2:c.341G>A, NM_000206.2:c.186T>A |
| IMPG2 | Retinitis pigmentosa, type 56 | NM_016247.3 | NM_016247.3:c.3262C>T, NM_016247.3:c.2890C>T, NM_016247.3:c.635C>G, NM_016247.3:c.502-1G>C |
| INPP5E | Joubert syndrome, type 1 | NM_019892.5 | NM_019892.5:c.1879C>T, NM_019892.5:c.1688G>A, NM_019892.5:c.1543C>T, NM_019892.5:c.1304G>A, NM_019892.5:c.1132C>T, NM_019892.5:c.855_856insCG |
| INSR | Diabetes mellitus, insulin-resistant, with acanthosis nigricans, type A | NM_000208.3 | NM_000208.3:c.3680G>C, NM_000208.3:c.3079C>T, NM_000208.3:c.2668C>T, NM_000208.3:c.1114C>T, NM_000208.3:c.172G>A |
| IQCB1 | Senior-Loken syndrome, type 5 | NM_001023570.3 | NM_001023570.3:c.1518_1519delCA, NM_001023570.3:c.1465C>T, NM_001023570.3:c.1381C>T, NM_001023570.3:c.1090C>T, NM_001023570.3:c.1069C>T, NM_001023570.3:c.1036G>T, NM_001023570.3:c.817G>T |
| ISCU | Myopathy with lactic acidosis, hereditary | NM_213595.3 | NM_213595.3:c.149G>A, NM_213595.3:c.338_339+2delCGGT |
| ITGA6 | Epidermolysis bullosa, junctional, with pyloric stenosis | NM_001079818.2 | NM_001079818.2:c.791delC, NM_001079818.2:c.1255dupA |
| ITGB4 | Epidermolysis bullosa, junctional, with pyloric atresia | NM_000213.4 | NM_000213.4:c.112T>C, NM_000213.4:c.182G>A, NM_000213.4:c.1150delG, NM_000213.4:c.1660C>T, NM_000213.4:c.1684T>C, NM_000213.4:c.2608delC, NM_000213.4:c.2792G>A, NM_000213.4:c.3321_3331delACTGGACCGGA, NM_000213.4:c.3674G>A, NM_000213.4:c.3793+1G>A, NM_000213.4:c.3801dupT, NM_000213.4:c.3841C>T, NM_000213.4:c.4620delG, NM_000213.4:c.4643G>A, NM_000213.4:c.4828C>T, NM_000213.4:c.5329+2T>C |
| IVD | Isovaleric acidemia | NM_002225.3 | NM_002225.3:c.2T>G, NM_002225.3:c.134T>C, NM_002225.3:c.157C>T, NM_002225.3:c.158G>A, NM_002225.3:c.158G>C, NM_002225.3:c.243+1G>A, NM_002225.3:c.367G>A, NM_002225.3:c.390delT, NM_002225.3:c.406_407delTG, NM_002225.3:c.434_437dupATGA, NM_002225.3:c.465+2T>C, NM_002225.3:c.478_479insGT, NM_002225.3:c.507delG, NM_002225.3:c.559+1G>A, NM_002225.3:c.593G>A, NM_002225.3:c.605G>T, NM_002225.3:c.627delT, NM_002225.3:c.793+1G>A, NM_002225.3:c.941C>T, NM_002225.3:c.994_995delAT, NM_002225.3:c.1141T>C, NM_002225.3:c.1145_1147+4delTTGGTGA, NM_002225.3:c.1183C>T, NM_002225.3:c.1188delT, NM_002225.3:c.1192C>T, NM_002225.3:c.1208A>G |
| JAK3 | Severe Combined Immunodeficiency, autosomal recessive, T-negative/B-positive type | NM_000215.3 | NM_000215.3:c.1837C>T, NM_000215.3:c.1765G>A, NM_000215.3:c.1695C>A, NM_000215.3:c.1333C>T, NM_000215.3:c.1172_1173insG, NM_000215.3:c.299A>G |
| KCNJ1 | Bartter syndrome, type 2 | NM_000220.4 | NM_000220.4:c.1014delA, NM_000220.4:c.1012C>T, NM_000220.4:c.996_999delAAAG, NM_000220.4:c.942T>G, NM_000220.4:c.657C>G, NM_000220.4:c.641C>T, NM_000220.4:c.592G>A, NM_000220.4:c.500G>A, NM_000220.4:c.372T>A, NM_000220.4:c.322G>C, NM_000220.4:c.237C>G |
| KCNJ13 | Leber congenital amaurosis, type 16 | NM_002242.4 | NM_002242.4:c.722T>C |
| KCNV2 | Retinal cone dystrophy, type 3B | NM_133497.3 | NM_133497.3:c.226C>T, NM_133497.3:c.325C>T, NM_133497.3:c.357dupC, NM_133497.3:c.427G>T, NM_133497.3:c.442G>T, NM_133497.3:c.491T>C, NM_133497.3:c.767C>G, NM_133497.3:c.778A>T, NM_133497.3:c.916G>T, NM_133497.3:c.1016_1024delACCTGGTGG, NM_133497.3:c.1133dupT, NM_133497.3:c.1376G>A |
| KIF7 | Acrocallosal syndrome; Joubert syndrome, type 12 | NM_198525.2 | NM_198525.2:c.3772_3773insC, NM_198525.2:c.3001C>T, NM_198525.2:c.2896_2897delGC, NM_198525.2:c.2473G>T, NM_198525.2:c.687delG, NM_198525.2:c.460C>T, NM_198525.2:c.61C>T |
| L1CAM | L1 Syndrome | NM_000425.4 | NM_000425.4:c.3581C>T, NM_000425.4:c.3489_3490delTG, NM_000425.4:c.3201T>G, NM_000425.4:c.2879delA, NM_000425.4:c.2254G>A, NM_000425.4:c.2092G>A, NM_000425.4:c.1792G>A, NM_000425.4:c.1354G>A, NM_000425.4:c.1108G>A, NM_000425.4:c.924C>T, NM_000425.4:c.800dupA, NM_000425.4:c.791G>A, NM_000425.4:c.772C>T, NM_000425.4:c.719C>T, NM_000425.4:c.551G>A, NM_000425.4:c.536T>G, NM_000425.4:c.23delT |
| LAMA2 | LAMA2-related muscular dystrophy | NM_000426.3 | NM_000426.3:c.112+1G>A, NM_000426.3:c.184G>T, NM_000426.3:c.825delC, NM_000426.3:c.1050delT, NM_000426.3:c.1612C>T, NM_000426.3:c.2049_2050delAG, NM_000426.3:c.2098_2099delTT, NM_000426.3:c.2323-2A>T, NM_000426.3:c.2451-2A>G, NM_000426.3:c.2750-1G>C, NM_000426.3:c.2901C>A, NM_000426.3:c.2962C>T, NM_000426.3:c.3215delG, NM_000426.3:c.3237C>A, NM_000426.3:c.3630delT, NM_000426.3:c.3718C>T, NM_000426.3:c.3976C>T, NM_000426.3:c.4645C>T, NM_000426.3:c.5050G>T, NM_000426.3:c.5227G>T, NM_000426.3:c.6011delA, NM_000426.3:c.6038delT, NM_000426.3:c.6334A>T, NM_000426.3:c.6429+1G>A, NM_000426.3:c.6617delT, NM_000426.3:c.6955C>T, NM_000426.3:c.7147C>T, NM_000426.3:c.7279_7280delCT, NM_000426.3:c.7536delC, NM_000426.3:c.7732C>T, NM_000426.3:c.7810C>T, NM_000426.3:c.7888C>T, NM_000426.3:c.8314delA, NM_000426.3:c.8705delT, NM_000426.3:c.8748delA, NM_000426.3:c.9101_9104dupAACA, NM_000426.3:c.9221delA, NM_000426.3:c.9253C>T |
| LAMA3 | Junctional epidermolysis bullosa, Herlitz and non-Herlitz type | NM_198129.2 | NM_198129.2:c.5162delG, NM_198129.2:c.6009delG, NM_198129.2:c.6808C>T, NM_198129.2:c.6943A>T, NM_198129.2:c.7489C>T, NM_198129.2:c.8177+2T>G, NM_198129.2:c.8962C>T, NM_198129.2:c.9162dupA, NM_198129.2:c.9705dupT |
| LAMB3 | Junctional epidermolysis bullosa, Herlitz and non-Herlitz type | NM_000228.2 | NM_000228.2:c.3228+1G>T, NM_000228.2:c.3228+1G>A, NM_000228.2:c.2806C>T, NM_000228.2:c.1903C>T, NM_000228.2:c.1830G>A, NM_000228.2:c.1587_1588delAG, NM_000228.2:c.1438_1442delCCGTG, NM_000228.2:c.1357delT, NM_000228.2:c.904delT, NM_000228.2:c.727C>T, NM_000228.2:c.628+1delG, NM_000228.2:c.628G>A, NM_000228.2:c.565-2A>G, NM_000228.2:c.496C>T, NM_000228.2:c.124C>T |
| LAMC2 | Junctional epidermolysis bullosa, Herlitz and non-Herlitz type | NM_005562.2 | NM_005562.2:c.283C>T, NM_005562.2:c.343C>T, NM_005562.2:c.405-1G>A, NM_005562.2:c.1659C>A, NM_005562.2:c.1782_1783delGC, NM_005562.2:c.2137_2143delCAGAACC, NM_005562.2:c.3069+1G>A, NM_005562.2:c.3120_3121insA, NM_005562.2:c.3512dupA |
| LARGE1 | Muscular dystrophy-dystroglycanopathy, type 6A and 6B | NM_004737.4 | NM_004737.4:c.1525G>A, NM_004737.4:c.1483T>C, NM_004737.4:c.1102C>T, NM_004737.4:c.992C>T |
| LBR | Greenberg skeletal dysplasia | NM_002296.3 | NM_002296.3:c.1748G>A, NM_002296.3:c.1402delT, NM_002296.3:c.1114C>T, NM_002296.3:c.32_35delTGGT |
| LDHA | Glycogen storage disease type 11 | NM_001165414.1 | NM_001165414.1:c.213+1G>A, NM_001165414.1:c.727_728delCT |
| LHFPL5 | Deafness, autosomal recessive type 67 | NM_182548.3 | NM_182548.3:c.250delC, NM_182548.3:c.380A>G, NM_182548.3:c.494C>T, NM_182548.3:c.649+1delG |
| LHX3 | Pituitary hormone deficiency, combined, type 3 | NM_014564.4 | NM_014564.4:c.687G>A, NM_014564.4:c.347A>G |
| LIFR | Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome | NM_001127671.1 | NM_001127671.1:c.2503G>T, NM_001127671.1:c.2013dupT, NM_001127671.1:c.1789C>T, NM_001127671.1:c.1018_1022delAATTG, NM_001127671.1:c.653dupT, NM_001127671.1:c.171_174delTAAC |
| LIG4 | LIG4 syndrome | NM_001098268.1 | NM_001098268.1:c.2440C>T, NM_001098268.1:c.1738C>T, NM_001098268.1:c.1512_1513delTC, NM_001098268.1:c.1455_1456delTG, NM_001098268.1:c.1406G>A, NM_001098268.1:c.1369_1372delGGAC, NM_001098268.1:c.1271_1275delAAAGA, NM_001098268.1:c.833G>A |
| LMNA | LMNA-related disorders, autosomal recessive | NM_001282626.1 | NM_001282626.1:c.1818+6C>T |
| LMNA | LMNA-related disorders, autosomal recessive | NM_170707.3 | NM_170707.3:c.419T>C, NM_170707.3:c.1072G>A, NM_170707.3:c.1228C>T, NM_170707.3:c.1366A>C, NM_170707.3:c.1411C>T, NM_170707.3:c.1488+1G>A, NM_170707.3:c.1579C>T, NM_170707.3:c.1580G>A, NM_170707.3:c.1583C>A, NM_170707.3:c.1585G>A, NM_170707.3:c.1586C>T, NM_170707.3:c.1626G>C |
| LOXHD1 | Deafness, autosomal recessive type 77 | NM_144612.6 | NM_144612.6:c.4714C>T, NM_144612.6:c.4524_4525delAG, NM_144612.6:c.3924C>A, NM_144612.6:c.2008C>T, NM_144612.6:c.512-1G>A, NM_144612.6:c.457_461dupCGCCA |
| LRAT | Leber congenital amaurosis type 14 | NM_001301645.1 | NM_001301645.1:c.217_218delAT, NM_001301645.1:c.525T>A, NM_001301645.1:c.588dupT |
| LRP2 | Donnai-Barrow syndrome | NM_004525.2 | NM_004525.2:c.13388+2T>C, NM_004525.2:c.13139dupC, NM_004525.2:c.11636-1G>T, NM_004525.2:c.11469_11472delTTTG, NM_004525.2:c.10769-2A>G, NM_004525.2:c.9484_9485delGT, NM_004525.2:c.8519_8522delATTT, NM_004525.2:c.7564T>C, NM_004525.2:c.2640-1G>A, NM_004525.2:c.1341+2T>G, NM_004525.2:c.1093C>T |
| LRP5 | Osteoporosis-pseudoglioma syndrome | NM_002335.3 | NM_002335.3:c.804_813delGGGGAAGAGG, NM_002335.3:c.1453G>T, NM_002335.3:c.1468delG, NM_002335.3:c.1481G>A, NM_002335.3:c.1708C>T, NM_002335.3:c.1709G>A, NM_002335.3:c.2202G>A, NM_002335.3:c.2254C>G, NM_002335.3:c.2305delG, NM_002335.3:c.2557C>T, NM_002335.3:c.4099G>A, NM_002335.3:c.4651G>A |
| LRPPRC | Leigh syndrome, French-Canadian type | NM_133259.3 | NM_133259.3:c.3830_3839delGTGGTGCAATinsAG, NM_133259.3:c.1061C>T |
| LRTOMT | Deafness, autosomal recessive type 63 | NM_001145308.4 | NM_001145308.4:c.242G>A |
| MAK | Retinitis pigmentosa type 62 | NM_001242957.2 | NM_001242957.2:c.1087_1088delAG, NM_001242957.2:c.719_720dupAG, NM_001242957.2:c.718C>T, NM_001242957.2:c.388A>C, NM_001242957.2:c.37G>A |
| MAN2B1 | Mannosidosis, alpha-, types I and II | NM_000528.3 | NM_000528.3:c.2686_2687delCTinsG, NM_000528.3:c.2436+2T>C, NM_000528.3:c.2426T>C, NM_000528.3:c.2398G>A, NM_000528.3:c.2368C>T, NM_000528.3:c.2278C>T, NM_000528.3:c.2119C>T, NM_000528.3:c.2013delT, NM_000528.3:c.1929G>A, NM_000528.3:c.1915C>T, NM_000528.3:c.1830+1G>C, NM_000528.3:c.1780C>T, NM_000528.3:c.384G>A, NM_000528.3:c.1A>G |
| MARVELD2 | Deafness, autosomal recessive type 49 | NM_001038603.2 | NM_001038603.2:c.1183-1G>A, NM_001038603.2:c.1363C>T |
| MAT1A | Methionine adenosyltransferase deficiency, autosomal recessive | NM_000429.2 | NM_000429.2:c.1070C>T, NM_000429.2:c.1043_1044delTG, NM_000429.2:c.1006G>A, NM_000429.2:c.966T>G, NM_000429.2:c.914T>C, NM_000429.2:c.827_828insG, NM_000429.2:c.791G>A, NM_000429.2:c.790C>T, NM_000429.2:c.538_539insTG |
| MBTPS2 | IFAP/BRESHECK syndrome; Osteogenesis imperfecta, type 19 | NM_015884.3 | NM_015884.3:c.261G>A, NM_015884.3:c.677G>T, NM_015884.3:c.1286G>A, NM_015884.3:c.1424T>C |
| MCCC1 | 3-Methylcrotonyl-CoA carboxylase type 1 deficiency | NM_020166.4 | NM_020166.4:c.2079delA, NM_020166.4:c.1930G>T, NM_020166.4:c.1905delA, NM_020166.4:c.1526delG, NM_020166.4:c.1380T>G, NM_020166.4:c.1310T>C, NM_020166.4:c.1277T>C, NM_020166.4:c.1155A>C, NM_020166.4:c.1114C>T, NM_020166.4:c.1074delG, NM_020166.4:c.640-1G>A, NM_020166.4:c.640-2A>G, NM_020166.4:c.558delA, NM_020166.4:c.343C>T, NM_020166.4:c.310C>T |
| MCCC2 | 3-Methylcrotonyl-CoA carboxylase type 2, deficiency | NM_022132.4 | NM_022132.4:c.295G>C, NM_022132.4:c.380C>G, NM_022132.4:c.464G>A, NM_022132.4:c.499T>C, NM_022132.4:c.517dupT, NM_022132.4:c.641delG, NM_022132.4:c.735dupC, NM_022132.4:c.838G>T, NM_022132.4:c.929C>G, NM_022132.4:c.994C>T, NM_022132.4:c.1015G>A, NM_022132.4:c.1065A>T, NM_022132.4:c.1072+1G>A, NM_022132.4:c.1577dupT, NM_022132.4:c.1580G>A |
| MCEE | Methylmalonyl-CoA epimerase deficiency | NM_032601.3 | NM_032601.3:c.139C>T, NM_032601.3:c.2T>C |
| MCOLN1 | Mucolipidosis type 4 | NM_020533.2 | NM_020533.2:c.304C>T, NM_020533.2:c.964C>T, NM_020533.2:c.1084G>T, NM_020533.2:c.1207C>T |
| MCPH1 | Microcephaly type 1, primary, autosomal recessive | NM_001322042.1 | NM_001322042.1:c.215C>T, NM_001322042.1:c.427dupA, NM_001322042.1:c.1249dupT, NM_001322042.1:c.1935+1G>T, NM_001322042.1:c.1973+1G>A, NM_001322042.1:c.2221C>T |
| MECP2 | Encephalopathy, neonatal severe | NM_001110792.1 | NM_001110792.1:c.1001C>T, NM_001110792.1:c.1000C>T, NM_001110792.1:c.952C>T, NM_001110792.1:c.916C>T, NM_001110792.1:c.844C>T, NM_001110792.1:c.842delG, NM_001110792.1:c.799C>T, NM_001110792.1:c.789delC, NM_001110792.1:c.766C>T, NM_001110792.1:c.710C>T, NM_001110792.1:c.647C>G, NM_001110792.1:c.538C>T, NM_001110792.1:c.251dupC |
| MED12 | Lujan-Fryns syndrome | NM_005120.2 | NM_005120.2:c.3443G>A, NM_005120.2:c.3493T>C, NM_005120.2:c.5185C>A |
| MED25 | Basel-Vanagait-Smirin-Yosef syndrome | NM_030973.3 | NM_030973.3:c.320delG, NM_030973.3:c.1366C>T |
| MEFV | Familial Mediterranean fever, AR | NM_000243.2 | NM_000243.2:c.2282G>A, NM_000243.2:c.2230G>T, NM_000243.2:c.2177T>C, NM_000243.2:c.2084A>G, NM_000243.2:c.2082G>A, NM_000243.2:c.2080A>G, NM_000243.2:c.2076_2078delAAT, NM_000243.2:c.2040G>C, NM_000243.2:c.2040G>A, NM_000243.2:c.1958G>A, NM_000243.2:c.1437C>G, NM_000243.2:c.1141C>T, NM_000243.2:c.656dupG, NM_000243.2:c.501G>C, NM_000243.2:c.163dupA |
| MERTK | Retinitis pigmentosa type 38 | NM_006343.2 | NM_006343.2:c.1605-2A>G, NM_006343.2:c.2070_2074delAGGAC, NM_006343.2:c.2189+1G>T, NM_006343.2:c.2211_2214delCTGT, NM_006343.2:c.2323C>T, NM_006343.2:c.2785_2786dupTA |
| MFRP | Microphthalmia, isolated type 5 | NM_031433.3 | NM_031433.3:c.1149dupC, NM_031433.3:c.1124+1G>T, NM_031433.3:c.545T>C, NM_031433.3:c.523C>T, NM_031433.3:c.498delC |
| MFSD8 | Ceroid lipofuscinosis, neuronal, type 7 | NM_152778.2 | NM_152778.2:c.1525_1526delCT, NM_152778.2:c.1286G>A, NM_152778.2:c.1235C>T, NM_152778.2:c.1090delA, NM_152778.2:c.999-2A>G, NM_152778.2:c.929G>A, NM_152778.2:c.894T>G, NM_152778.2:c.881C>A, NM_152778.2:c.362A>G |
| MGAT2 | Congenital disorder of glycosylation, type 2a | NM_002408.3 | NM_002408.3:c.785A>G, NM_002408.3:c.869C>T, NM_002408.3:c.1017T>A |
| MKKS | Bardet-Biedl syndrome type 6 | NM_018848.3 | NM_018848.3:c.1436C>G, NM_018848.3:c.1225_1226delGG, NM_018848.3:c.830T>C, NM_018848.3:c.353delG |
| MKS1 | Bardet-Biedl syndrome type 13 | NM_001321269.1 | NM_001321269.1:c.1024+1G>A, NM_001321269.1:c.508C>T |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts | NM_015166.3 | NM_015166.3:c.424-2A>C, NM_015166.3:c.423C>A, NM_015166.3:c.422A>G, NM_015166.3:c.278C>T, NM_015166.3:c.274C>T, NM_015166.3:c.206C>T, NM_015166.3:c.135dupC, NM_015166.3:c.33dupC |
| MLYCD | Malonyl-CoA decarboxylase deficiency | NM_012213.2 | NM_012213.2:c.560C>G, NM_012213.2:c.680_685dupTGAAGC, NM_012213.2:c.758delT |
| MMAA | Methylmalonic aciduria, vitamin B12-responsive | NM_172250.2 | NM_172250.2:c.283C>T, NM_172250.2:c.387C>A, NM_172250.2:c.450dupG, NM_172250.2:c.455delC, NM_172250.2:c.503delC, NM_172250.2:c.586C>T, NM_172250.2:c.620A>G, NM_172250.2:c.811G>T, NM_172250.2:c.1034delT |
| MMAB | Methylmalonic aciduria, vitamin B12-responsive, type cblB | NM_052845.3 | NM_052845.3:c.700C>T, NM_052845.3:c.569G>A, NM_052845.3:c.568C>T, NM_052845.3:c.556C>T, NM_052845.3:c.220G>T, NM_052845.3:c.197-1G>T, NM_052845.3:c.197-1G>A |
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | NM_015506.2 | NM_015506.2:c.271dupA, NM_015506.2:c.331C>T, NM_015506.2:c.347T>C, NM_015506.2:c.388_390delTAC, NM_015506.2:c.394C>T, NM_015506.2:c.440G>C, NM_015506.2:c.481C>T, NM_015506.2:c.482G>A, NM_015506.2:c.547_548delGT, NM_015506.2:c.608G>A, NM_015506.2:c.609G>A, NM_015506.2:c.615C>A, NM_015506.2:c.615C>G, NM_015506.2:c.619dupG, NM_015506.2:c.616C>T, NM_015506.2:c.658_660delAAG, NM_015506.2:c.688C>T |
| MMADHC | Homocystinuria, cblD type, variant 1 | NM_015702.2 | NM_015702.2:c.795dupT, NM_015702.2:c.776T>C, NM_015702.2:c.748C>T, NM_015702.2:c.746A>G, NM_015702.2:c.545C>A, NM_015702.2:c.478+1G>T, NM_015702.2:c.419dupA, NM_015702.2:c.57_64delCTCTTTAG |
| MOCS1 | Molybdenum cofactor deficiency A | NM_001075098.3 | NM_001075098.3:c.1027C>T, NM_001075098.3:c.956G>A, NM_001075098.3:c.397_406delCCGGACGTGG, NM_001075098.3:c.217C>T |
| MOCS2 | Molybdenum cofactor deficiency B | NM_004531.4 | NM_004531.4:c.567A>C, NM_004531.4:c.539_540delAA, NM_004531.4:c.502G>A, NM_004531.4:c.377+1G>A, NM_004531.4:c.106_107delAT, NM_004531.4:c.58delT, NM_004531.4:c.3G>A |
| MOCS2 | Molybdenum cofactor deficiency B | NM_176806.3 | NM_176806.3:c.16C>T |
| MPI | Congenital disorder of glycosylation, type 1b | NM_002435.2 | NM_002435.2:c.305C>T, NM_002435.2:c.413T>C, NM_002435.2:c.656G>A, NM_002435.2:c.884G>A, NM_002435.2:c.1016_1019delACCC |
| MPV17 | Mitochondrial DNA depletion syndrome type 6 (hepatocerebral) | NM_002437.4 | NM_002437.4:c.498C>A, NM_002437.4:c.462-2A>C, NM_002437.4:c.359G>A, NM_002437.4:c.284dupG, NM_002437.4:c.263_265delAGA, NM_002437.4:c.149G>A, NM_002437.4:c.148C>T, NM_002437.4:c.70G>T |
| MRPS16 | Combined oxidative phosphorylation deficiency 2 | NM_016065.3 | NM_016065.3:c.331C>T, NM_016065.3:c.2T>C |
| MRPS22 | Combined oxidative phosphorylation deficiency type 5 | NM_020191.2 | NM_020191.2:c.40_41insA, NM_020191.2:c.509G>A, NM_020191.2:c.644T>C |
| MTM1 | Myotubular myopathy, X-linked | NM_000252.2 | NM_000252.2:c.70C>T, NM_000252.2:c.420C>G, NM_000252.2:c.461T>G, NM_000252.2:c.595_599delCCTGC, NM_000252.2:c.670C>T, NM_000252.2:c.721C>T, NM_000252.2:c.780T>A, NM_000252.2:c.969dupA, NM_000252.2:c.969delA, NM_000252.2:c.1261-10A>G, NM_000252.2:c.1306_1310dupCCTAT, NM_000252.2:c.1357_1358delCC, NM_000252.2:c.1415_1416delGT |
| MTMR2 | Charcot-Marie-Tooth disease, type 4B1 | NM_016156.5 | NM_016156.5:c.1276C>T, NM_016156.5:c.304C>T |
| MTTP | Abetalipoproteinemia | NM_001300785.1 | NM_001300785.1:c.789_790delCA, NM_001300785.1:c.1700G>A, NM_001300785.1:c.1850G>T, NM_001300785.1:c.1948+1G>A, NM_001300785.1:c.2112delC, NM_001300785.1:c.2674G>T |
| MUT | Methylmalonic aciduria, mut(0) type | NM_000255.3 | NM_000255.3:c.2150G>T, NM_000255.3:c.2080C>T, NM_000255.3:c.1924G>C, NM_000255.3:c.1871A>G, NM_000255.3:c.1867G>A, NM_000255.3:c.1741C>T, NM_000255.3:c.1658delT, NM_000255.3:c.1445-2A>G, NM_000255.3:c.1420C>T, NM_000255.3:c.1399C>T, NM_000255.3:c.1280G>A, NM_000255.3:c.1207C>T, NM_000255.3:c.1181T>A, NM_000255.3:c.1106G>A, NM_000255.3:c.914T>C, NM_000255.3:c.682C>T, NM_000255.3:c.671_678dupAATTTATG, NM_000255.3:c.655A>T, NM_000255.3:c.643G>A, NM_000255.3:c.607G>A, NM_000255.3:c.572C>A, NM_000255.3:c.313T>C, NM_000255.3:c.280G>A, NM_000255.3:c.278G>A, NM_000255.3:c.91C>T |
| MVK | Mevalonic aciduria | NM_000431.3 | NM_000431.3:c.59A>C, NM_000431.3:c.185G>A, NM_000431.3:c.494C>T, NM_000431.3:c.803T>C, NM_000431.3:c.902A>C, NM_000431.3:c.928G>A, NM_000431.3:c.1000G>A, NM_000431.3:c.1129G>A |
| MYO15A | Deafness, autosomal recessive type 3 | NM_016239.3 | NM_016239.3:c.625G>T, NM_016239.3:c.755dupA, NM_016239.3:c.3313G>T, NM_016239.3:c.3336delG, NM_016239.3:c.3385C>T, NM_016239.3:c.3693-2A>G, NM_016239.3:c.3756+1G>T, NM_016239.3:c.4751_4752dupTC, NM_016239.3:c.5326C>T, NM_016239.3:c.5492G>T, NM_016239.3:c.6004delG, NM_016239.3:c.6864_6874delGGACCTGGAGC, NM_016239.3:c.8148G>T, NM_016239.3:c.8410A>T, NM_016239.3:c.8548C>T, NM_016239.3:c.9958_9961delGACT, NM_016239.3:c.10573delA |
| MYO3A | Deafness, autosomal recessive type 30 | NM_017433.4 | NM_017433.4:c.1A>G, NM_017433.4:c.732-2A>G, NM_017433.4:c.770C>G, NM_017433.4:c.1086T>G, NM_017433.4:c.1193C>A, NM_017433.4:c.1777-12G>A, NM_017433.4:c.1953delC, NM_017433.4:c.2243delA, NM_017433.4:c.2506-1G>A, NM_017433.4:c.2793+2T>A, NM_017433.4:c.3112-2A>G, NM_017433.4:c.3154C>T, NM_017433.4:c.4586+2T>G, NM_017433.4:c.4730+1G>A |
| MYO5A | Griscelli syndrome, type 1 | NM_000259.3 | NM_000259.3:c.2332C>T, NM_000259.3:c.1145delC |
| MYO6 | Deafness, autosomal recessive type 37 | NM_004999.3 | NM_004999.3:c.1452dupT, NM_004999.3:c.2907_2909delAGA, NM_004999.3:c.3496C>T, NM_004999.3:c.3808C>T |
| MYO7A | Usher syndrome, type 1B | NM_000260.3 | NM_000260.3:c.3G>A, NM_000260.3:c.133-2A>G, NM_000260.3:c.448C>T, NM_000260.3:c.494C>T, NM_000260.3:c.634C>T, NM_000260.3:c.635G>A, NM_000260.3:c.640G>A, NM_000260.3:c.731G>C, NM_000260.3:c.1184G>A, NM_000260.3:c.1344-1G>A, NM_000260.3:c.1797G>A, NM_000260.3:c.1884C>A, NM_000260.3:c.1996C>T, NM_000260.3:c.2476G>A, NM_000260.3:c.3504-1G>C, NM_000260.3:c.3508G>A, NM_000260.3:c.3596dupT, NM_000260.3:c.3719G>A, NM_000260.3:c.3764delA, NM_000260.3:c.4024delT, NM_000260.3:c.5392C>T, NM_000260.3:c.5618G>A, NM_000260.3:c.5824G>T, NM_000260.3:c.5886_5889delCTTT, NM_000260.3:c.5967C>G, NM_000260.3:c.6025delG |
| NAGA | Schindler disease, type I | NM_000262.2 | NM_000262.2:c.986G>A, NM_000262.2:c.985C>T, NM_000262.2:c.973G>A, NM_000262.2:c.577G>T |
| NAGS | N-acetylglutamate synthase deficiency | NM_153006.2 | NM_153006.2:c.916-2A>T, NM_153006.2:c.971G>A, NM_153006.2:c.1025delG, NM_153006.2:c.1289T>C, NM_153006.2:c.1299G>C, NM_153006.2:c.1307dupT |
| NDRG1 | Charcot-Marie-Tooth disease, type 4D | NM_001135242.1 | NM_001135242.1:c.928C>T, NM_001135242.1:c.538-1G>A, NM_001135242.1:c.442C>T, NM_001135242.1:c.16C>T |
| NEB | Nemaline myopathy type 2, autosomal recessive | NM_001271208.1 | NM_001271208.1:c.12238_12239delAT, NM_001271208.1:c.8031_8041delAAATAAACGAG, NM_001271208.1:c.6105dupT, NM_001271208.1:c.2173G>T, NM_001271208.1:c.843T>G |
| NEFL | Charcot-Marie-Tooth disease, type 1F | NM_006158.4 | NM_006158.4:c.628G>T, NM_006158.4:c.418G>T, NM_006158.4:c.361G>T |
| NEUROG3 | Diarrhea type 4, malabsorptive, congenital | NM_020999.3 | NM_020999.3:c.319C>A, NM_020999.3:c.278G>T |
| NHP2 | Dyskeratosis congenita, autosomal recessive type 2 | NM_017838.3 | NM_017838.3:c.460T>A, NM_017838.3:c.415T>C, NM_017838.3:c.289_290delAT |
| NMNAT1 | Leber congenital amaurosis type 9 | NM_001297778.1 | NM_001297778.1:c.25G>A, NM_001297778.1:c.451G>T, NM_001297778.1:c.457C>G, NM_001297778.1:c.507G>A, NM_001297778.1:c.619C>T, NM_001297778.1:c.710G>T, NM_001297778.1:c.769G>A |
| NOP10 | Dyskeratosis congenita, autosomal recessive type 1 | NM_018648.3 | NM_018648.3:c.100C>T |
| NPC1 | Niemann-Pick disease, type C1 | NM_000271.4 | NM_000271.4:c.3662delT, NM_000271.4:c.3611_3614delTTAC, NM_000271.4:c.3467A>G, NM_000271.4:c.3425T>C, NM_000271.4:c.3182T>C, NM_000271.4:c.3175C>T, NM_000271.4:c.3107C>T, NM_000271.4:c.3104C>T, NM_000271.4:c.3019C>G, NM_000271.4:c.2974G>T, NM_000271.4:c.2974G>A, NM_000271.4:c.2972_2973delAG, NM_000271.4:c.2932C>T, NM_000271.4:c.2873G>A, NM_000271.4:c.2861C>T, NM_000271.4:c.2848G>A, NM_000271.4:c.2842G>A, NM_000271.4:c.2761C>T, NM_000271.4:c.2324A>C, NM_000271.4:c.2072C>T, NM_000271.4:c.1628C>T, NM_000271.4:c.1211G>A, NM_000271.4:c.1042C>T, NM_000271.4:c.813_815delCAT, NM_000271.4:c.530G>A, NM_000271.4:c.352_353delAG, NM_000271.4:c.337T>C |
| NPC2 | Niemann-pick disease, type C2 | NM_006432.3 | NM_006432.3:c.436C>T, NM_006432.3:c.358C>T, NM_006432.3:c.352G>T, NM_006432.3:c.295T>C, NM_006432.3:c.190+5G>A, NM_006432.3:c.115G>A, NM_006432.3:c.58G>T, NM_006432.3:c.27delG |
| NPHP1 | Joubert syndrome type 4 | NM_000272.3 | NM_000272.3:c.1884+1G>T, NM_000272.3:c.1184dupC, NM_000272.3:c.829C>T, NM_000272.3:c.555dupA, NM_000272.3:c.455C>G, NM_000272.3:c.80T>A, NM_000272.3:c.1delA |
| NPHP3 | Meckel syndrome type 7 | NM_153240.4 | NM_153240.4:c.3406C>T, NM_153240.4:c.3373C>T, NM_153240.4:c.3156dupA, NM_153240.4:c.2694-2_2694-1delAG, NM_153240.4:c.2694-2A>G, NM_153240.4:c.2570+1G>T, NM_153240.4:c.2541delG, NM_153240.4:c.2369T>C, NM_153240.4:c.1985+5G>A, NM_153240.4:c.1817G>A, NM_153240.4:c.1729C>T, NM_153240.4:c.1381G>T, NM_153240.4:c.1119-2A>G, NM_153240.4:c.434_437delAAAG |
| NPHP4 | Nephronophthisis type 4 | NM_015102.4 | NM_015102.4:c.3767_3768insAA, NM_015102.4:c.3231+1G>C, NM_015102.4:c.2940_2944dupGCTCC, NM_015102.4:c.2335C>T, NM_015102.4:c.1972C>T, NM_015102.4:c.1120-1G>C, NM_015102.4:c.556_557insT, NM_015102.4:c.517C>T |
| NPHS1 | Nephrotic syndrome, type 1 | NM_004646.3 | NM_004646.3:c.3478C>T, NM_004646.3:c.3325C>T, NM_004646.3:c.3250dupG, NM_004646.3:c.3250delG, NM_004646.3:c.3109+1G>A, NM_004646.3:c.2928G>T, NM_004646.3:c.2491C>T, NM_004646.3:c.1715G>A, NM_004646.3:c.1481delC, NM_004646.3:c.1307_1308dupAC, NM_004646.3:c.121_122delCT |
| NR0B1 | Adrenal hypoplasia, congenital | NM_000475.4 | NM_000475.4:c.1319A>T, NM_000475.4:c.1316T>G, NM_000475.4:c.1107G>A, NM_000475.4:c.890T>C, NM_000475.4:c.873G>C, NM_000475.4:c.847C>T, NM_000475.4:c.813C>G, NM_000475.4:c.800G>C, NM_000475.4:c.788T>A, NM_000475.4:c.704G>A, NM_000475.4:c.591C>A, NM_000475.4:c.513G>A, NM_000475.4:c.388_389delTA, NM_000475.4:c.273C>A |
| NR2E3 | Enhanced S-cone syndrome | NM_014249.3 | NM_014249.3:c.119-2A>C, NM_014249.3:c.226C>T, NM_014249.3:c.298_299delTG, NM_014249.3:c.932G>A, NM_014249.3:c.1034_1038delTGCAG |
| NTRK1 | Insensitivity to pain, congenital, with anhidrosis | NM_002529.3 | NM_002529.3:c.1076A>G, NM_002529.3:c.1727delT, NM_002529.3:c.1729G>C, NM_002529.3:c.1759A>G, NM_002529.3:c.1926_1927insT, NM_002529.3:c.2084C>T, NM_002529.3:c.2339G>C |
| NUP62 | Striatonigral degeneration, infantile | NM_001193357.1 | NM_001193357.1:c.1172A>C |
| NYX | Night blindness, congenital stationary (complete), type 1A, X-linked | NM_022567.2 | NM_022567.2:c.1049G>A |
| OAT | Gyrate atrophy of choroid and retina | NM_000274.3 | NM_000274.3:c.1276C>T, NM_000274.3:c.1250C>T, NM_000274.3:c.1205T>C, NM_000274.3:c.994G>A, NM_000274.3:c.955C>T, NM_000274.3:c.952delG, NM_000274.3:c.952G>A, NM_000274.3:c.901-2A>G, NM_000274.3:c.824G>A, NM_000274.3:c.812G>A, NM_000274.3:c.677C>T, NM_000274.3:c.627T>A, NM_000274.3:c.596C>A, NM_000274.3:c.539G>C, NM_000274.3:c.533G>A, NM_000274.3:c.278G>T, NM_000274.3:c.268C>G, NM_000274.3:c.159delC |
| OCA2 | Oculocutaneous albinism type 2 | NM_000275.2 | NM_000275.2:c.2228C>T, NM_000275.2:c.1960delG, NM_000275.2:c.1842+1G>T, NM_000275.2:c.1465A>G, NM_000275.2:c.1364+1G>T, NM_000275.2:c.1327G>A, NM_000275.2:c.1182+2T>C, NM_000275.2:c.1182G>A, NM_000275.2:c.1025A>G, NM_000275.2:c.819_822delCTGGinsGGTC, NM_000275.2:c.157delA, NM_000275.2:c.79G>A |
| OCRL | Lowe Syndrome; Dent disease type 2 | NM_001318784.1 | NM_001318784.1:c.912_913delAG, NM_001318784.1:c.1502G>A, NM_001318784.1:c.2302C>T, NM_001318784.1:c.2406dupA, NM_001318784.1:c.2533C>T, NM_001318784.1:c.2538delA |
| OFD1 | Joubert syndrome type 10; Orofaciodigital syndrome type 1 | NM_003611.2 | NM_003611.2:c.43_44delAG, NM_003611.2:c.52G>T, NM_003611.2:c.65dupA, NM_003611.2:c.62_63insT, NM_003611.2:c.221C>T, NM_003611.2:c.224A>C, NM_003611.2:c.235G>A, NM_003611.2:c.241C>G, NM_003611.2:c.243C>G, NM_003611.2:c.247C>T, NM_003611.2:c.260A>G, NM_003611.2:c.275_276delCT, NM_003611.2:c.274T>C, NM_003611.2:c.277G>T, NM_003611.2:c.290A>G, NM_003611.2:c.312+1delG, NM_003611.2:c.312+2_312+7delTAAAGT, NM_003611.2:c.413-10T>G, NM_003611.2:c.454C>T, NM_003611.2:c.518-1G>A, NM_003611.2:c.541dupG, NM_003611.2:c.594_598delAAAGC, NM_003611.2:c.602delA, NM_003611.2:c.607_610delTATA, NM_003611.2:c.616_617delGA, NM_003611.2:c.614_617delGAGA, NM_003611.2:c.619_624delATAGAA, NM_003611.2:c.628C>T, NM_003611.2:c.653delA, NM_003611.2:c.654+2_654+3delTA, NM_003611.2:c.1268_1272delAAAAC, NM_003611.2:c.1303A>C, NM_003611.2:c.1318delC, NM_003611.2:c.1319delT, NM_003611.2:c.1322_1326delAAGAA, NM_003611.2:c.1323_1326delAGAA, NM_003611.2:c.1360_1363delCTTA, NM_003611.2:c.1358T>A, NM_003611.2:c.1365_1368delACAA, NM_003611.2:c.1612C>T, NM_003611.2:c.1757delG, NM_003611.2:c.1821delG, NM_003611.2:c.1840delG, NM_003611.2:c.1859_1860delCCinsG, NM_003611.2:c.2261-1G>T, NM_003611.2:c.2321_2322insT, NM_003611.2:c.2349delC, NM_003611.2:c.2387+1G>C, NM_003611.2:c.2582dupT |
| OPA3 | 3-methylglutaconic aciduria, type 3 | NM_001017989.2 | NM_001017989.2:c.221delG |
| OSTM1 | Osteopetrosis, autosomal recessive type 5 | NM_014028.3 | NM_014028.3:c.415_416delAG |
| OTC | Ornithine transcarbamylase deficiency | NM_000531.5 | NM_000531.5:c.77G>A, NM_000531.5:c.118C>T, NM_000531.5:c.119G>A, NM_000531.5:c.134T>C, NM_000531.5:c.148G>T, NM_000531.5:c.238A>G, NM_000531.5:c.245T>G, NM_000531.5:c.259G>A, NM_000531.5:c.275G>A, NM_000531.5:c.332T>C, NM_000531.5:c.421C>T, NM_000531.5:c.460G>T, NM_000531.5:c.563G>T, NM_000531.5:c.589G>T, NM_000531.5:c.617T>G, NM_000531.5:c.646C>G, NM_000531.5:c.674C>T, NM_000531.5:c.717+2T>C, NM_000531.5:c.829C>T |
| OTOA | Deafness, autosomal recessive type 22 | NM_144672.3 | NM_144672.3:c.121-1G>A, NM_144672.3:c.828delT, NM_144672.3:c.1725_1726delCA |
| OTOF | Auditory neuropathy, autosomal recessive, type 1 | NM_001287489.1 | NM_001287489.1:c.5474_5475delCC, NM_001287489.1:c.5473C>G, NM_001287489.1:c.5103+2T>A, NM_001287489.1:c.4559G>A, NM_001287489.1:c.4491T>A, NM_001287489.1:c.3032T>C, NM_001287489.1:c.2485C>T, NM_001287489.1:c.2348delG, NM_001287489.1:c.1778delT, NM_001287489.1:c.1544T>C, NM_001287489.1:c.1498C>T, NM_001287489.1:c.766-2A>G, NM_001287489.1:c.584-1G>C, NM_001287489.1:c.227+2T>C, NM_001287489.1:c.149G>A |
| OTOF | Auditory neuropathy, autosomal recessive, type 1 | NM_004802.3 | NM_004802.3:c.3515G>A |
| P3H1 | Osteogenesis imperfecta, type 8 | NM_001243246.1 | NM_001243246.1:c.1656C>A, NM_001243246.1:c.1473+1G>T, NM_001243246.1:c.1365_1366delAGinsC, NM_001243246.1:c.1102C>T, NM_001243246.1:c.747delC |
| PAH | Phenylketonuria | NM_000277.1 | NM_000277.1:c.1315+1G>A, NM_000277.1:c.1243G>A, NM_000277.1:c.1241A>G, NM_000277.1:c.1238G>C, NM_000277.1:c.1222C>T, NM_000277.1:c.1217T>C, NM_000277.1:c.1208C>T, NM_000277.1:c.1199+17G>A, NM_000277.1:c.1199+1G>A, NM_000277.1:c.1197A>T, NM_000277.1:c.1184C>A, NM_000277.1:c.1169A>G, NM_000277.1:c.1166delC, NM_000277.1:c.1162G>A, NM_000277.1:c.1139C>T, NM_000277.1:c.1068C>A, NM_000277.1:c.1066-3C>T, NM_000277.1:c.1066-11G>A, NM_000277.1:c.1045T>C, NM_000277.1:c.1042C>G, NM_000277.1:c.1033G>T, NM_000277.1:c.1030G>A, NM_000277.1:c.955G>T, NM_000277.1:c.926C>T, NM_000277.1:c.926C>A, NM_000277.1:c.912+1G>A, NM_000277.1:c.898G>T, NM_000277.1:c.896T>G, NM_000277.1:c.842+5G>A, NM_000277.1:c.838G>A, NM_000277.1:c.829T>G, NM_000277.1:c.823C>T, NM_000277.1:c.818C>T, NM_000277.1:c.814G>T, NM_000277.1:c.809G>A, NM_000277.1:c.806delT, NM_000277.1:c.782G>A, NM_000277.1:c.764T>C, NM_000277.1:c.755G>A, NM_000277.1:c.754C>T, NM_000277.1:c.745C>T, NM_000277.1:c.737C>A, NM_000277.1:c.734T>C, NM_000277.1:c.733G>C, NM_000277.1:c.728G>A, NM_000277.1:c.727C>T, NM_000277.1:c.722delG, NM_000277.1:c.722G>A, NM_000277.1:c.721C>T, NM_000277.1:c.688G>A, NM_000277.1:c.673C>G, NM_000277.1:c.665A>G, NM_000277.1:c.638T>C, NM_000277.1:c.611A>G, NM_000277.1:c.569T>C, NM_000277.1:c.533A>G, NM_000277.1:c.529G>A, NM_000277.1:c.527G>T, NM_000277.1:c.509+1G>A, NM_000277.1:c.508C>G, NM_000277.1:c.503delA, NM_000277.1:c.490A>G, NM_000277.1:c.482T>C, NM_000277.1:c.473G>A, NM_000277.1:c.472C>T, NM_000277.1:c.450dupA, NM_000277.1:c.442-1G>A, NM_000277.1:c.442-5C>G, NM_000277.1:c.441+5G>T, NM_000277.1:c.441+1G>A, NM_000277.1:c.357delC, NM_000277.1:c.331C>T, NM_000277.1:c.320A>G, NM_000277.1:c.311C>A, NM_000277.1:c.284_286delTCA, NM_000277.1:c.261C>A, NM_000277.1:c.250G>T, NM_000277.1:c.204A>T, NM_000277.1:c.194T>C, NM_000277.1:c.165T>G, NM_000277.1:c.143T>C, NM_000277.1:c.136G>A, NM_000277.1:c.117C>G, NM_000277.1:c.47_48delCT |
| PANK2 | Neurodegeneration with brain iron accumulation type 1 | NM_153638.3 | NM_153638.3:c.790C>T, NM_153638.3:c.823_824delCT, NM_153638.3:c.1561G>A, NM_153638.3:c.1583C>T |
| PC | Pyruvate carboxylase deficiency | NM_000920.3 | NM_000920.3:c.1748G>T, NM_000920.3:c.434T>C |
| PCCA | Propionic acidemia | NM_000282.3 | NM_000282.3:c.229C>T, NM_000282.3:c.261dupT, NM_000282.3:c.412G>A, NM_000282.3:c.600+1G>A, NM_000282.3:c.862A>T, NM_000282.3:c.1023dupT, NM_000282.3:c.1118T>A, NM_000282.3:c.1226_1227delTT, NM_000282.3:c.1284+1G>A, NM_000282.3:c.1598_1601delTTGT, NM_000282.3:c.1891G>C, NM_000282.3:c.1899+4_1899+7delAGTA |
| PCCB | Propionic acidemia | NM_001178014.1 | NM_001178014.1:c.331C>T, NM_001178014.1:c.337C>T, NM_001178014.1:c.562G>A, NM_001178014.1:c.622G>A, NM_001178014.1:c.743C>T, NM_001178014.1:c.1050dupT, NM_001178014.1:c.1233dupT, NM_001178014.1:c.1278_1291delGGGCATCATCCGGCinsTAGAGCACAGGA, NM_001178014.1:c.1279_1284delGGCATCinsAA, NM_001178014.1:c.1283_1286delTCAT, NM_001178014.1:c.1288C>T, NM_001178014.1:c.1289_1290insT, NM_001178014.1:c.1343C>T, NM_001178014.1:c.1364A>G, NM_001178014.1:c.1594C>T, NM_001178014.1:c.1598_1600dupCCC, NM_001178014.1:c.1666A>G |
| PCDH15 | Deafness, autosomal recessive type 23 | NM_001142763.1 | NM_001142763.1:c.5680A>T, NM_001142763.1:c.4982_4983insTGAT, NM_001142763.1:c.4958_4961dupTGAT, NM_001142763.1:c.4885delA, NM_001142763.1:c.4569_4572dupATCT, NM_001142763.1:c.3733-2A>G, NM_001142763.1:c.2660_2661delAT, NM_001142763.1:c.1955C>G, NM_001142763.1:c.1752C>G, NM_001142763.1:c.1598T>A, NM_001142763.1:c.1103delT, NM_001142763.1:c.1021C>T, NM_001142763.1:c.800G>A, NM_001142763.1:c.415C>T, NM_001142763.1:c.415C>G, NM_001142763.1:c.7C>T |
| PDE6A | Retinitis pigmentosa type 43 | NM_000440.2 | NM_000440.2:c.2053G>A, NM_000440.2:c.1749C>G, NM_000440.2:c.1683G>A, NM_000440.2:c.1560dupA, NM_000440.2:c.1113+1G>T, NM_000440.2:c.1113+1G>A |
| PDE6B | Retinitis pigmentosa type 40 | NM_000283.3 | NM_000283.3:c.892C>T, NM_000283.3:c.1540delC, NM_000283.3:c.1572delC, NM_000283.3:c.1580T>C, NM_000283.3:c.1669C>T, NM_000283.3:c.1920+2T>C |
| PDE6C | Cone dystrophy type 4 | NM_006204.3 | NM_006204.3:c.85C>T, NM_006204.3:c.180_186delCCTGTGC, NM_006204.3:c.256_257insAG, NM_006204.3:c.481-12T>A, NM_006204.3:c.633G>C, NM_006204.3:c.826C>T, NM_006204.3:c.881G>A, NM_006204.3:c.1066G>T, NM_006204.3:c.1363A>G, NM_006204.3:c.1682dupA, NM_006204.3:c.1805A>T, NM_006204.3:c.2036+1G>T, NM_006204.3:c.2283+1G>C, NM_006204.3:c.2457T>A |
| PDE6G | Retinitis pigmentosa type 57 | NM_002602.3 | NM_002602.3:c.187+1G>T |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency | NM_001173454.1 | NM_001173454.1:c.887A>C, NM_001173454.1:c.901C>G |
| PDP1 | Pyruvate dehydrogenase phosphatase deficiency | NM_001161779.1 | NM_001161779.1:c.352G>T, NM_001161779.1:c.672_676delCTTTA, NM_001161779.1:c.878delC, NM_001161779.1:c.926_928delTTC, NM_001161779.1:c.1681C>T |
| PDSS1 | Coenzyme Q10 deficiency, primary, type 2 | NM_014317.4 | NM_014317.4:c.319dupT, NM_014317.4:c.924T>G |
| PDSS2 | Coenzyme Q10 deficiency, primary, type 3 | NM_020381.3 | NM_020381.3:c.1145C>T, NM_020381.3:c.964C>T, NM_020381.3:c.129dupC |
| PDX1 | Pancreatic agenesis type 1 | NM_000209.3 | NM_000209.3:c.492G>T, NM_000209.3:c.532G>A, NM_000209.3:c.533A>G |
| PDZD7 | Usher syndrome, type 2C, GPR98/PDZD7 digenic | NM_001195263.1 | NM_001195263.1:c.2107delA, NM_001195263.1:c.1543C>T, NM_001195263.1:c.166dupC, NM_001195263.1:c.144dupA |
| PEX1 | Heimler syndrome type 1 | NM_000466.2 | NM_000466.2:c.3505_3517delCAGTTGTTTTCAC, NM_000466.2:c.2916delA, NM_000466.2:c.2528G>A, NM_000466.2:c.2097dupT, NM_000466.2:c.1991T>C, NM_000466.2:c.1952_1960dupCAGTGTGGA, NM_000466.2:c.1842delA, NM_000466.2:c.1239+1G>T, NM_000466.2:c.877C>T |
| PEX12 | Peroxisome biogenesis disorder type 3A (Zellweger) | NM_000286.2 | NM_000286.2:c.959C>T, NM_000286.2:c.894delC, NM_000286.2:c.888_889delCT, NM_000286.2:c.771delC, NM_000286.2:c.538C>T, NM_000286.2:c.455_459dupGGAAA |
| PEX2 | Peroxisome biogenesis disorder type 5A (Zellweger) | NM_000318.2 | NM_000318.2:c.789_790delCT, NM_000318.2:c.163G>A |
| PEX26 | Peroxisome biogenesis disorder type 7A (Zellweger) | NM_001127649.2 | NM_001127649.2:c.254dupT, NM_001127649.2:c.265G>A, NM_001127649.2:c.292C>T |
| PEX5 | Peroxisome biogenesis disorder type 2A (Zellweger) | NM_001300789.1 | NM_001300789.1:c.1342C>T, NM_001300789.1:c.1641T>G |
| PEX7 | Rhizomelic chondrodysplasia punctata, type 1 | NM_000288.3 | NM_000288.3:c.532C>T, NM_000288.3:c.618G>A, NM_000288.3:c.649G>A, NM_000288.3:c.653C>T, NM_000288.3:c.694C>T, NM_000288.3:c.854A>G, NM_000288.3:c.875T>A, NM_000288.3:c.903+1G>C |
| PGM1 | Congenital disorder of glycosylation, type 1t | NM_001172818.1 | NM_001172818.1:c.397A>G, NM_001172818.1:c.415G>C, NM_001172818.1:c.841G>T, NM_001172818.1:c.1561C>T |
| PHKG2 | Glycogen storage disease type 9c | NM_000294.2 | NM_000294.2:c.130C>T, NM_000294.2:c.393-2A>G, NM_000294.2:c.553C>T, NM_000294.2:c.958C>T |
| PHYH | Refsum disease | NM_001323082.1 | NM_001323082.1:c.830G>A, NM_001323082.1:c.829C>T, NM_001323082.1:c.811A>C, NM_001323082.1:c.684+5G>T, NM_001323082.1:c.684+2T>G, NM_001323082.1:c.503-2A>G, NM_001323082.1:c.164delT, NM_001323082.1:c.135-1G>C, NM_001323082.1:c.135-2A>G |
| PJVK | Deafness, autosomal recessive type 59 | NM_001042702.3 | NM_001042702.3:c.113dupT, NM_001042702.3:c.122delA, NM_001042702.3:c.161C>T, NM_001042702.3:c.420delT, NM_001042702.3:c.726delT, NM_001042702.3:c.823dupT, NM_001042702.3:c.988delG |
| PKHD1 | Polycystic kidney disease type 4 | NM_138694.3 | NM_138694.3:c.12027C>G, NM_138694.3:c.11363_11372delCTTCCCTGGA, NM_138694.3:c.10452dupT, NM_138694.3:c.10412T>G, NM_138694.3:c.10219C>T, NM_138694.3:c.9719G>A, NM_138694.3:c.9689delA, NM_138694.3:c.9530T>C, NM_138694.3:c.9370C>T, NM_138694.3:c.8870T>C, NM_138694.3:c.8824C>T, NM_138694.3:c.8408G>A, NM_138694.3:c.8407T>C, NM_138694.3:c.8317G>T, NM_138694.3:c.6499C>T, NM_138694.3:c.5895dupA, NM_138694.3:c.5325_5326delAG, NM_138694.3:c.4870C>T, NM_138694.3:c.3940delA, NM_138694.3:c.3766delC, NM_138694.3:c.3761_3762delCCinsG, NM_138694.3:c.3367G>A, NM_138694.3:c.3229-2A>C, NM_138694.3:c.2854G>A, NM_138694.3:c.2827_2828delGA, NM_138694.3:c.2452C>T, NM_138694.3:c.2414C>T, NM_138694.3:c.2341C>T, NM_138694.3:c.1486C>T, NM_138694.3:c.982C>T, NM_138694.3:c.930delC, NM_138694.3:c.682A>G, NM_138694.3:c.664A>G, NM_138694.3:c.370C>T, NM_138694.3:c.353delG, NM_138694.3:c.107C>T, NM_138694.3:c.85G>T |
| PKLR | Pyruvate kinase deficiency | NM_000298.5 | NM_000298.5:c.1675C>T, NM_000298.5:c.1529G>A, NM_000298.5:c.1528C>T, NM_000298.5:c.1456C>T, NM_000298.5:c.1436G>A, NM_000298.5:c.1261C>A, NM_000298.5:c.1151C>T, NM_000298.5:c.721G>T |
| PLA2G6 | Infantile neuroaxonal dystrophy type 1 | NM_003560.2 | NM_003560.2:c.2370T>G, NM_003560.2:c.2239C>T, NM_003560.2:c.1903C>T, NM_003560.2:c.1894C>T, NM_003560.2:c.1634A>C, NM_003560.2:c.1612C>T, NM_003560.2:c.929T>A, NM_003560.2:c.109C>T |
| PLCE1 | Nephrotic syndrome, type 3 | NM_016341.3 | NM_016341.3:c.961C>T, NM_016341.3:c.3346C>T, NM_016341.3:c.3736C>T, NM_016341.3:c.3846delG, NM_016341.3:c.4451C>T, NM_016341.3:c.4809delA, NM_016341.3:c.5560C>T |
| PLEC | Epidermolysis bullosa simplex with muscular dystrophy | NM_201380.3 | NM_201380.3:c.12373dupG, NM_201380.3:c.11776G>T, NM_201380.3:c.11301_11302delGA, NM_201380.3:c.9580_9581delCT, NM_201380.3:c.9415C>T, NM_201380.3:c.7285C>T, NM_201380.3:c.1243C>T, NM_201380.3:c.1236+1G>A |
| PLEKHG5 | Charcot-Marie-Tooth disease, recessive intermediate C | NM_001265592.1 | NM_001265592.1:c.3172C>T, NM_001265592.1:c.2177T>C |
| PLG | Plasminogen deficiency, type I | NM_000301.3 | NM_000301.3:c.112A>G, NM_000301.3:c.693_695delGAA, NM_000301.3:c.704G>A, NM_000301.3:c.1120G>T, NM_000301.3:c.1435G>T, NM_000301.3:c.1848G>A |
| PLOD1 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | NM_001316320.1 | NM_001316320.1:c.607+1G>A, NM_001316320.1:c.1096C>T, NM_001316320.1:c.1674C>G, NM_001316320.1:c.1977G>C, NM_001316320.1:c.2149C>T, NM_001316320.1:c.2173G>A |
| PLP1 | Pelizaeus-Merzbacher disease | NM_000533.4 | NM_000533.4:c.3G>A, NM_000533.4:c.128C>T, NM_000533.4:c.231_232insC, NM_000533.4:c.487T>C, NM_000533.4:c.593delG, NM_000533.4:c.725C>T, NM_000533.4:c.737G>C |
| PLP1 | Pelizaeus-Merzbacher disease | NM_001305004.1 | NM_001305004.1:c.5-1G>T |
| PMM2 | Congenital disorder of glycosylation, type 1a | NM_000303.2 | NM_000303.2:c.26G>A, NM_000303.2:c.53C>G, NM_000303.2:c.95T>G, NM_000303.2:c.95_96delTAinsGC, NM_000303.2:c.97C>T, NM_000303.2:c.109C>T, NM_000303.2:c.131T>C, NM_000303.2:c.190delT, NM_000303.2:c.193G>T, NM_000303.2:c.255+2T>C, NM_000303.2:c.256-1G>C, NM_000303.2:c.323C>T, NM_000303.2:c.338C>T, NM_000303.2:c.349G>C, NM_000303.2:c.357C>A, NM_000303.2:c.368G>A, NM_000303.2:c.385G>A, NM_000303.2:c.395T>C, NM_000303.2:c.415G>A, NM_000303.2:c.422G>A, NM_000303.2:c.442G>A, NM_000303.2:c.470T>C, NM_000303.2:c.484C>T, NM_000303.2:c.563A>G, NM_000303.2:c.620T>C, NM_000303.2:c.623G>C, NM_000303.2:c.647A>T, NM_000303.2:c.652C>G, NM_000303.2:c.669C>G, NM_000303.2:c.677C>G, NM_000303.2:c.691G>A, NM_000303.2:c.710C>G, NM_000303.2:c.710C>T |
| PNPO | Pyridoxamine 5'-phosphate oxidase deficiency | NM_018129.3 | NM_018129.3:c.674G>A, NM_018129.3:c.685C>T |
| POLG | Mitochondrial DNA depletion syndrome 4A (Alpers type) | NM_001126131.1 | NM_001126131.1:c.3644-1G>A, NM_001126131.1:c.3630dupC, NM_001126131.1:c.3286C>T, NM_001126131.1:c.3218C>T, NM_001126131.1:c.3151G>C, NM_001126131.1:c.2794C>T, NM_001126131.1:c.2617G>T, NM_001126131.1:c.2605C>T, NM_001126131.1:c.2591A>G, NM_001126131.1:c.2557C>T, NM_001126131.1:c.2542G>A, NM_001126131.1:c.2243G>C, NM_001126131.1:c.2209G>C, NM_001126131.1:c.1879C>T, NM_001126131.1:c.1760C>T, NM_001126131.1:c.1754G>A, NM_001126131.1:c.1437C>G, NM_001126131.1:c.1399G>A, NM_001126131.1:c.1120C>T, NM_001126131.1:c.911T>G, NM_001126131.1:c.752C>T |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | NM_001243766.1 | NM_001243766.1:c.1864delC, NM_001243766.1:c.1814G>C, NM_001243766.1:c.1545delC, NM_001243766.1:c.1539+1G>T, NM_001243766.1:c.1539+1G>A, NM_001243766.1:c.1469G>A, NM_001243766.1:c.1425G>A, NM_001243766.1:c.1411A>T, NM_001243766.1:c.1274G>C, NM_001243766.1:c.932G>A, NM_001243766.1:c.931C>T, NM_001243766.1:c.880-1G>A, NM_001243766.1:c.652+1G>A, NM_001243766.1:c.636C>T, NM_001243766.1:c.187C>T, NM_001243766.1:c.92dupA |
| POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | NM_007171.3 | NM_007171.3:c.193G>A, NM_007171.3:c.226G>A, NM_007171.3:c.598G>C, NM_007171.3:c.793C>T, NM_007171.3:c.831C>G, NM_007171.3:c.907C>T, NM_007171.3:c.1153C>T, NM_007171.3:c.1242-2A>G, NM_007171.3:c.1261dupC, NM_007171.3:c.1280_1281delAGinsTC, NM_007171.3:c.1540C>T, NM_007171.3:c.1545C>G, NM_007171.3:c.1746G>C, NM_007171.3:c.1770G>C, NM_007171.3:c.2005G>A, NM_007171.3:c.2163C>A, NM_007171.3:c.2167dupG |
| POMT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | NM_013382.5 | NM_013382.5:c.2243G>C, NM_013382.5:c.2177G>A, NM_013382.5:c.1997A>G, NM_013382.5:c.1941G>A, NM_013382.5:c.1912C>T, NM_013382.5:c.1726-2A>G, NM_013382.5:c.1608_1609delCA, NM_013382.5:c.1445G>T, NM_013382.5:c.1417C>T, NM_013382.5:c.1057G>A, NM_013382.5:c.1045_1052delCGGATGGCinsG, NM_013382.5:c.551C>T |
| POU1F1 | Pituitary hormone deficiency, combined, type 1 | NM_001122757.2 | NM_001122757.2:c.826G>T, NM_001122757.2:c.793C>T, NM_001122757.2:c.766G>A, NM_001122757.2:c.655T>C, NM_001122757.2:c.593G>A, NM_001122757.2:c.592C>T, NM_001122757.2:c.550G>C, NM_001122757.2:c.511A>T, NM_001122757.2:c.506G>A, NM_001122757.2:c.482T>G, NM_001122757.2:c.469G>T, NM_001122757.2:c.71C>T |
| POU3F4 | Deafness, X-linked type 2 (DFNX2) | NM_000307.4 | NM_000307.4:c.499C>T, NM_000307.4:c.604A>T |
| PPT1 | Ceroid lipofuscinosis, neuronal, type 1 | NM_000310.3 | NM_000310.3:c.840dupA, NM_000310.3:c.627+1G>T, NM_000310.3:c.541G>T, NM_000310.3:c.451C>T, NM_000310.3:c.223A>C, NM_000310.3:c.169dupA, NM_000310.3:c.29T>A |
| PRCD | Retinitis pigmentosa, type 36 | NM_001077620.2 | NM_001077620.2:c.52C>T, NM_001077620.2:c.64C>T |
| PRKRA | Dystonia, type 16 | NM_003690.4 | NM_003690.4:c.665C>T |
| PROM1 | Retinitis pigmentosa, type 41 | NM_006017.2 | NM_006017.2:c.2490-2A>G, NM_006017.2:c.1841delG, NM_006017.2:c.1726C>T, NM_006017.2:c.1354dupT, NM_006017.2:c.1177_1178delAT, NM_006017.2:c.199C>T |
| PROP1 | Pituitary hormone deficiency, combined, type 2 | NM_006261.4 | NM_006261.4:c.469dupT, NM_006261.4:c.358C>T, NM_006261.4:c.349T>A, NM_006261.4:c.310delC, NM_006261.4:c.301_302delAG, NM_006261.4:c.295C>T, NM_006261.4:c.263T>C, NM_006261.4:c.247C>T, NM_006261.4:c.218G>A, NM_006261.4:c.217C>T, NM_006261.4:c.157delA, NM_006261.4:c.150delA, NM_006261.4:c.112_124delTCGAGTGCTCCAC, NM_006261.4:c.4delG, NM_006261.4:c.2T>C |
| PRPS1 | Deafness, X-linked 1 (DFNX1); Arts syndrome; PRPS1-related disorders | NM_002764.3 | NM_002764.3:c.193G>A, NM_002764.3:c.344T>C, NM_002764.3:c.398A>C, NM_002764.3:c.869T>C, NM_002764.3:c.916G>A |
| PRX | Charcot-Marie-Tooth disease, type 4F | NM_181882.2 | NM_181882.2:c.3208C>T, NM_181882.2:c.2857C>T, NM_181882.2:c.2553_2556delTCTC, NM_181882.2:c.2145T>A, NM_181882.2:c.2098delG, NM_181882.2:c.1362delA, NM_181882.2:c.1102C>T, NM_181882.2:c.247delC |
| PSAP | Combined SAP deficiency | NM_001042465.2 | NM_001042465.2:c.1297C>T, NM_001042465.2:c.1055T>C, NM_001042465.2:c.643A>C, NM_001042465.2:c.607C>T |
| PSAP | Combined SAP deficiency | NM_002778.3 | NM_002778.3:c.1A>T |
| PSAT1 | Neu-Laxova syndrome, type 2 | NM_058179.3 | NM_058179.3:c.299A>C, NM_058179.3:c.1033_1034delCT |
| PYGM | McArdle disease | NM_005609.3 | NM_005609.3:c.2392T>C, NM_005609.3:c.2262delA, NM_005609.3:c.2128_2130delTTC, NM_005609.3:c.1963G>A, NM_005609.3:c.1827G>A, NM_005609.3:c.1768+1G>A, NM_005609.3:c.1726C>T, NM_005609.3:c.1722T>G, NM_005609.3:c.1628A>C, NM_005609.3:c.1621G>T, NM_005609.3:c.1466C>G, NM_005609.3:c.613G>A, NM_005609.3:c.501dupT, NM_005609.3:c.393delG, NM_005609.3:c.280C>T, NM_005609.3:c.255C>A, NM_005609.3:c.148C>T, NM_005609.3:c.13_14delCT, NM_005609.3:c.1A>G |
| RAB23 | Carpenter syndrome | NM_001278666.1 | NM_001278666.1:c.434T>A, NM_001278666.1:c.407dupC |
| RAB27A | Griscelli syndrome, type 2 | NM_004580.4 | NM_004580.4:c.454G>C, NM_004580.4:c.389T>C, NM_004580.4:c.382dupA, NM_004580.4:c.352C>T, NM_004580.4:c.259G>C, NM_004580.4:c.217T>G |
| RAB3GAP1 | Warburg micro syndrome, type 1 | NM_001172435.1 | NM_001172435.1:c.497_498delTT, NM_001172435.1:c.748+1G>A, NM_001172435.1:c.899+1G>A, NM_001172435.1:c.937dupA, NM_001172435.1:c.1395_1398delTATG, NM_001172435.1:c.1410C>A, NM_001172435.1:c.1734G>A, NM_001172435.1:c.2011C>T |
| RAB3GAP2 | Martsolf syndrome | NM_012414.3 | NM_012414.3:c.1648C>T, NM_012414.3:c.1485C>A, NM_012414.3:c.1276C>T, NM_012414.3:c.325_328delAAAG |
| RAG1 | Omenn syndrome; Severe combined immunodeficiency, B cell-negative | NM_000448.2 | NM_000448.2:c.256_257delAA, NM_000448.2:c.940C>T, NM_000448.2:c.983G>A, NM_000448.2:c.1681C>T, NM_000448.2:c.1682G>A, NM_000448.2:c.2164G>A, NM_000448.2:c.2320G>T, NM_000448.2:c.2326C>T, NM_000448.2:c.2333G>A, NM_000448.2:c.2814T>G, NM_000448.2:c.2923C>T |
| RAG2 | Omenn syndrome; Severe combined immunodeficiency, B cell-negative | NM_000536.3 | NM_000536.3:c.1352G>C, NM_000536.3:c.601C>T, NM_000536.3:c.283G>A, NM_000536.3:c.230C>A, NM_000536.3:c.115A>G |
| RAPSN | Fetal akinesia deformation sequence | NM_005055.4 | NM_005055.4:c.848T>C, NM_005055.4:c.807C>A, NM_005055.4:c.566C>T, NM_005055.4:c.490C>T, NM_005055.4:c.484G>A, NM_005055.4:c.416T>C, NM_005055.4:c.264C>A |
| RAX | Isolated microphthalmia, type 3 | NM_013435.2 | NM_013435.2:c.909C>G, NM_013435.2:c.439C>T, NM_013435.2:c.383_384delAG, NM_013435.2:c.18C>A |
| RDH12 | Leber congenital amaurosis, type 13 | NM_152443.2 | NM_152443.2:c.146C>T, NM_152443.2:c.152T>A, NM_152443.2:c.184C>T, NM_152443.2:c.210dupC, NM_152443.2:c.295C>A, NM_152443.2:c.377C>T, NM_152443.2:c.379G>T, NM_152443.2:c.451C>A, NM_152443.2:c.451C>G, NM_152443.2:c.464C>T, NM_152443.2:c.523T>C, NM_152443.2:c.565C>T, NM_152443.2:c.677A>G, NM_152443.2:c.806_810delCCCTG |
| RDX | Deafness, autosomal recessive, type 24 | NM_001260492.1 | NM_001260492.1:c.1405dupG, NM_001260492.1:c.342_346delGATAT |
| RELN | Lissencephaly 2 (Norman-Roberts type) | NM_005045.3 | NM_005045.3:c.6646C>T, NM_005045.3:c.5615-1G>A |
| REN | Renal tubular dysgenesis | NM_000537.3 | NM_000537.3:c.404C>A, NM_000537.3:c.145C>T, NM_000537.3:c.127C>T |
| RGR | Retinitis pigmentosa, type 44 | NM_002921.3 | NM_002921.3:c.262_269dupGGCTCGGA, NM_002921.3:c.273_274insGGCTCGGA, NM_002921.3:c.877C>T |
| RHO | Retinitis pigmentosa, type 4, autosomal recessive | NM_000539.3 | NM_000539.3:c.173C>T, NM_000539.3:c.448G>A, NM_000539.3:c.620T>G, NM_000539.3:c.745G>T |
| RLBP1 | Bothnia retinal dystrophy | NM_000326.4 | NM_000326.4:c.700C>T, NM_000326.4:c.452G>A, NM_000326.4:c.333T>G |
| RP2 | Retinitis pigmentosa, type 2, X-linked | NM_006915.2 | NM_006915.2:c.235delG, NM_006915.2:c.305dupT, NM_006915.2:c.352delC, NM_006915.2:c.353G>A, NM_006915.2:c.353G>T, NM_006915.2:c.358C>T, NM_006915.2:c.453delC, NM_006915.2:c.453C>G, NM_006915.2:c.631delC |
| RPE65 | Leber congenital amaurosis, type 2 | NM_000329.2 | NM_000329.2:c.1543C>T, NM_000329.2:c.1355T>G, NM_000329.2:c.1292A>G, NM_000329.2:c.1102T>C, NM_000329.2:c.1087C>A, NM_000329.2:c.1067delA, NM_000329.2:c.1022T>C, NM_000329.2:c.907A>T, NM_000329.2:c.514_515delGT, NM_000329.2:c.271C>T |
| RPGR | Retinitis pigmentosa, type 3, X-linked | NM_001034853.1 | NM_001034853.1:c.846_847delAA, NM_001034853.1:c.823G>A, NM_001034853.1:c.806G>A, NM_001034853.1:c.703C>T, NM_001034853.1:c.674_675delCC, NM_001034853.1:c.654_655delGA, NM_001034853.1:c.642_656delTGGAGAACCTGAGAAinsC, NM_001034853.1:c.517G>C, NM_001034853.1:c.505G>T, NM_001034853.1:c.389T>G, NM_001034853.1:c.296C>A, NM_001034853.1:c.179G>T, NM_001034853.1:c.173_174insA, NM_001034853.1:c.155-2A>G |
| RPGRIP1L | Joubert syndrome, type 7; Meckel syndrome, type 5; COACH syndrome | NM_015272.4 | NM_015272.4:c.3634_3637delGAAA, NM_015272.4:c.2794_2795delTT, NM_015272.4:c.2614C>T, NM_015272.4:c.2413C>T, NM_015272.4:c.2050C>T, NM_015272.4:c.1975T>C, NM_015272.4:c.1843A>C, NM_015272.4:c.1329dupA, NM_015272.4:c.1326_1329delAAAA, NM_015272.4:c.776+1G>A, NM_015272.4:c.757C>T, NM_015272.4:c.697A>T, NM_015272.4:c.394A>T |
| RYR1 | Minicore myopathy with external ophthalmoplegia | NM_000540.2 | NM_000540.2:c.325C>T, NM_000540.2:c.487C>T, NM_000540.2:c.631+2T>C, NM_000540.2:c.738T>G, NM_000540.2:c.1021G>A, NM_000540.2:c.1186G>T, NM_000540.2:c.1205T>C, NM_000540.2:c.1739_1742dupATCA, NM_000540.2:c.1841G>T, NM_000540.2:c.4076delG, NM_000540.2:c.4405C>T, NM_000540.2:c.5333C>A, NM_000540.2:c.5726_5727delAG, NM_000540.2:c.6082C>T, NM_000540.2:c.6104A>T, NM_000540.2:c.6721C>T, NM_000540.2:c.7268T>A, NM_000540.2:c.7300G>A, NM_000540.2:c.7360C>T, NM_000540.2:c.7373G>A, NM_000540.2:c.7463_7475delCAAAGATGTCAGC, NM_000540.2:c.7781C>A, NM_000540.2:c.7836-1G>A, NM_000540.2:c.9000+1G>T, NM_000540.2:c.9905dupC, NM_000540.2:c.10343C>T, NM_000540.2:c.10579C>T, NM_000540.2:c.13480G>T, NM_000540.2:c.14126C>T, NM_000540.2:c.14365-2A>T, NM_000540.2:c.14545G>A |
| SACS | Spastic ataxia, Charlevoix-Saguenay, type | NM_014363.5 | NM_014363.5:c.13237C>T, NM_014363.5:c.12160C>T, NM_014363.5:c.8844delT, NM_014363.5:c.7504C>T, NM_014363.5:c.6563T>A, NM_014363.5:c.6355C>T, NM_014363.5:c.5618_5619delAT, NM_014363.5:c.4933C>T, NM_014363.5:c.3198T>A, NM_014363.5:c.994A>T, NM_014363.5:c.517C>T |
| SAG | Oguchi disease, type 1 | NM_000541.4 | NM_000541.4:c.298dupG, NM_000541.4:c.523C>T, NM_000541.4:c.577C>T, NM_000541.4:c.874C>T, NM_000541.4:c.916G>T, NM_000541.4:c.926delA, NM_000541.4:c.993C>G |
| SBDS | Shwachman-Diamond syndrome | NM_016038.2 | NM_016038.2:c.377G>C, NM_016038.2:c.258+2T>C, NM_016038.2:c.184A>T, NM_016038.2:c.183_184delTAinsCT, NM_016038.2:c.120delG |
| SBF2 | Charcot-Marie-Tooth disease, type 4B2 | NM_030962.3 | NM_030962.3:c.5536_5539dupATCT, NM_030962.3:c.3586C>T, NM_030962.3:c.3154A>T, NM_030962.3:c.2875C>T, NM_030962.3:c.1459C>T |
| SC5D | Lathosterolosis | NM_001024956.2 | NM_001024956.2:c.86G>A |
| SCNN1A | Pseudohypoaldosteronism, type 1 | NM_001159576.1 | NM_001159576.1:c.1942C>T, NM_001159576.1:c.1699C>T, NM_001159576.1:c.1659delC, NM_001159576.1:c.1482delC, NM_001159576.1:c.517G>A, NM_001159576.1:c.380_381delTC |
| SCNN1B | Pseudohypoaldosteronism, type 1 | NM_000336.2 | NM_000336.2:c.109G>A |
| SCNN1G | Pseudohypoaldosteronism, type 1 | NM_001039.3 | NM_001039.3:c.600dupA, NM_001039.3:c.1373+2T>C, NM_001039.3:c.1570-1G>A, NM_001039.3:c.1627delG |
| SELENON | Muscular dystrophy, rigid spine, type 1 | NM_020451.2 | NM_020451.2:c.713dupA, NM_020451.2:c.818G>A, NM_020451.2:c.943G>A, NM_020451.2:c.1315C>T, NM_020451.2:c.1384T>G |
| SEMA4A | Cone-rod dystrophy, type 10; Retinitis pigmentosa, type 35 | NM_001193300.1 | NM_001193300.1:c.1033G>C, NM_001193300.1:c.1049T>G |
| SETX | Spinocerebellar ataxia, autosomal recessive, type 1 | NM_015046.5 | NM_015046.5:c.6848_6851delCAGA, NM_015046.5:c.6834_6839delAACAAA, NM_015046.5:c.5927T>G, NM_015046.5:c.5630delG, NM_015046.5:c.5549-1G>T, NM_015046.5:c.5308_5311delGAGA, NM_015046.5:c.4087C>T, NM_015046.5:c.2602C>T, NM_015046.5:c.1166T>C, NM_015046.5:c.1027G>T, NM_015046.5:c.994C>T |
| SGCA | Muscular dystrophy, limb-girdle, type 2D | NM_000023.3 | NM_000023.3:c.101G>A, NM_000023.3:c.229C>T, NM_000023.3:c.371T>C, NM_000023.3:c.518T>C, NM_000023.3:c.574C>T, NM_000023.3:c.739G>A, NM_000023.3:c.850C>T, NM_000023.3:c.903_904dupCC |
| SGCB | Muscular dystrophy, limb-girdle, type 2E | NM_000232.4 | NM_000232.4:c.552T>G, NM_000232.4:c.452C>G, NM_000232.4:c.341C>T, NM_000232.4:c.323T>G, NM_000232.4:c.299T>A, NM_000232.4:c.272G>T, NM_000232.4:c.272G>C |
| SGCG | Muscular dystrophy, limb-girdle, type 2C | NM_000231.2 | NM_000231.2:c.89delG, NM_000231.2:c.195+4_195+7delAGTA, NM_000231.2:c.505+1G>A, NM_000231.2:c.525delT, NM_000231.2:c.787G>A, NM_000231.2:c.848G>A |
| SGSH | Mucopolysaccharidosis, type 3A (Sanfilippo A) | NM_000199.3 | NM_000199.3:c.1380delT, NM_000199.3:c.1339G>A, NM_000199.3:c.1298G>A, NM_000199.3:c.1167C>A, NM_000199.3:c.892T>C, NM_000199.3:c.877C>T, NM_000199.3:c.757delG, NM_000199.3:c.617G>C, NM_000199.3:c.466A>T, NM_000199.3:c.449G>A, NM_000199.3:c.383C>T, NM_000199.3:c.364G>A, NM_000199.3:c.337_345delCAAGCTGGTinsGCACAGGTGAG, NM_000199.3:c.320delT, NM_000199.3:c.235A>C, NM_000199.3:c.220C>T, NM_000199.3:c.197C>G, NM_000199.3:c.130G>A |
| SH2D1A | Lymphoproliferative syndrome, X-linked, type 1 | NM_002351.4 | NM_002351.4:c.3G>T, NM_002351.4:c.95G>C, NM_002351.4:c.163C>T, NM_002351.4:c.164G>T, NM_002351.4:c.172C>T, NM_002351.4:c.203C>T, NM_002351.4:c.302C>T |
| SH3TC2 | Charcot-Marie-Tooth disease, type 4C | NM_024577.3 | NM_024577.3:c.3676-1G>A, NM_024577.3:c.3601C>T, NM_024577.3:c.3341delC, NM_024577.3:c.3326G>C, NM_024577.3:c.3325C>T, NM_024577.3:c.2993_2994insC, NM_024577.3:c.2860C>T, NM_024577.3:c.2829T>G, NM_024577.3:c.2710C>T, NM_024577.3:c.2491_2492delAG, NM_024577.3:c.2191delG, NM_024577.3:c.1982T>C, NM_024577.3:c.1972C>T, NM_024577.3:c.1969G>A, NM_024577.3:c.1747_1748delAG, NM_024577.3:c.1724T>A, NM_024577.3:c.1586G>A, NM_024577.3:c.920G>A, NM_024577.3:c.735G>A, NM_024577.3:c.530-2A>G, NM_024577.3:c.217_227delGCTGCTCGGAGinsCCAGTAA, NM_024577.3:c.53-1G>C, NM_024577.3:c.52+1delG, NM_024577.3:c.28delG |
| SIL1 | Marinesco-Sjogren syndrome | NM_001037633.1 | NM_001037633.1:c.1312C>T, NM_001037633.1:c.331C>T |
| SIX6 | Optic disc anomalies with retinal and/or macular dystrophy | NM_007374.2 | NM_007374.2:c.532_536delAACCG |
| SLC12A1 | Bartter syndrome, type 1 | NM_000338.2 | NM_000338.2:c.223C>T, NM_000338.2:c.628+2T>C, NM_000338.2:c.814G>T, NM_000338.2:c.1875G>A, NM_000338.2:c.1942G>A, NM_000338.2:c.2805dupA, NM_000338.2:c.2952_2955delCAAA |
| SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy | NM_133647.1 | NM_133647.1:c.3031C>T, NM_133647.1:c.2023C>T, NM_133647.1:c.1584_1585delCTinsG, NM_133647.1:c.619C>T, NM_133647.1:c.366T>G, NM_133647.1:c.316+1G>A |
| SLC17A5 | Salla disease | NM_012434.4 | NM_012434.4:c.1259+1G>A, NM_012434.4:c.406A>G, NM_012434.4:c.115C>T, NM_012434.4:c.43G>T |
| SLC25A13 | Citrullinemia, adult-onset, type 2 | NM_001160210.1 | NM_001160210.1:c.1816C>T, NM_001160210.1:c.1804G>T, NM_001160210.1:c.1804G>A, NM_001160210.1:c.1802dupA, NM_001160210.1:c.1595G>A, NM_001160210.1:c.1414_1415delCT, NM_001160210.1:c.1314+1G>A, NM_001160210.1:c.1234-1G>A, NM_001160210.1:c.1180+1G>A, NM_001160210.1:c.1081C>T, NM_001160210.1:c.852_855delTATG, NM_001160210.1:c.674C>A, NM_001160210.1:c.615+5G>A, NM_001160210.1:c.615+1G>C |
| SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | NM_014252.3 | NM_014252.3:c.110T>G, NM_014252.3:c.212T>A, NM_014252.3:c.535C>T, NM_014252.3:c.538G>A, NM_014252.3:c.562_564delTTC, NM_014252.3:c.569G>A, NM_014252.3:c.658G>A, NM_014252.3:c.815C>T, NM_014252.3:c.824G>A |
| SLC25A22 | Epileptic encephalopathy, early infantile, type 3 | NM_001191060.1 | NM_001191060.1:c.706G>T, NM_001191060.1:c.617C>T |
| SLC26A2 | Achondrogenesis, type 1B (diastrophic dysplasia) | NM_000112.3 | NM_000112.3:c.496G>A, NM_000112.3:c.532C>T, NM_000112.3:c.833delC, NM_000112.3:c.835C>T, NM_000112.3:c.1020_1022delTGT, NM_000112.3:c.1273A>G, NM_000112.3:c.1361A>C, NM_000112.3:c.1535C>A, NM_000112.3:c.1724delA, NM_000112.3:c.1878delG, NM_000112.3:c.1957T>A, NM_000112.3:c.2033G>T |
| SLC26A4 | Deafness, autosomal recessive, type 4 | NM_000441.1 | NM_000441.1:c.269C>T, NM_000441.1:c.281C>T, NM_000441.1:c.412G>T, NM_000441.1:c.554G>C, NM_000441.1:c.563T>C, NM_000441.1:c.626G>T, NM_000441.1:c.707T>C, NM_000441.1:c.916dupG, NM_000441.1:c.918+2T>C, NM_000441.1:c.919-2A>G, NM_000441.1:c.961A>T, NM_000441.1:c.1001G>T, NM_000441.1:c.1001+1G>T, NM_000441.1:c.1003T>C, NM_000441.1:c.1034T>A, NM_000441.1:c.1151A>G, NM_000441.1:c.1174A>T, NM_000441.1:c.1198delT, NM_000441.1:c.1226G>A, NM_000441.1:c.1229C>T, NM_000441.1:c.1246A>C, NM_000441.1:c.1263+1G>A, NM_000441.1:c.1334T>G, NM_000441.1:c.1489G>A, NM_000441.1:c.1707+5G>A, NM_000441.1:c.1975G>C, NM_000441.1:c.2048T>C, NM_000441.1:c.2162C>T, NM_000441.1:c.2168A>G |
| SLC35A1 | Congenital disorder of glycosylation, type 2f | NM_006416.4 | NM_006416.4:c.277_280delGTGCinsTG |
| SLC35C1 | Congenital disorder of glycosylation, type 2c | NM_018389.4 | NM_018389.4:c.91G>T, NM_018389.4:c.290dupG, NM_018389.4:c.439C>T, NM_018389.4:c.503_505delTCT, NM_018389.4:c.923C>G |
| SLC35D1 | Schneckenbecken dysplasia | NM_015139.2 | NM_015139.2:c.932G>A, NM_015139.2:c.319C>T |
| SLC37A4 | Glycogen storage disease, type 1b | NM_001164278.1 | NM_001164278.1:c.1309C>T, NM_001164278.1:c.1190-2_1190-1delAG, NM_001164278.1:c.1129G>T, NM_001164278.1:c.1108_1109delCT, NM_001164278.1:c.1082G>A, NM_001164278.1:c.1081G>T, NM_001164278.1:c.706_708delGTG, NM_001164278.1:c.352T>C, NM_001164278.1:c.287G>A, NM_001164278.1:c.83G>A |
| SLC45A2 | Albinism, oculocutaneous, type 4 | NM_016180.4 | NM_016180.4:c.1121delT, NM_016180.4:c.986delC, NM_016180.4:c.469G>A |
| SLC4A11 | Corneal endothelial dystrophy, autosomal recessive | NM_001174090.1 | NM_001174090.1:c.2687G>A, NM_001174090.1:c.2686C>T, NM_001174090.1:c.2647A>G, NM_001174090.1:c.2609T>C, NM_001174090.1:c.2345G>A, NM_001174090.1:c.2314_2321dupTATGACAC, NM_001174090.1:c.2305G>A, NM_001174090.1:c.1894C>T, NM_001174090.1:c.1547C>T, NM_001174090.1:c.1544G>A, NM_001174090.1:c.1472G>A, NM_001174090.1:c.1119_1120insA, NM_001174090.1:c.718T>C, NM_001174090.1:c.554_561delGCTTCGCC |
| SLC6A8 | Cerebral creatine deficiency syndrome, type 1 | NM_005629.3 | NM_005629.3:c.321_323delCTT, NM_005629.3:c.395G>T, NM_005629.3:c.1011C>G, NM_005629.3:c.1141G>C, NM_005629.3:c.1222_1224delTTC, NM_005629.3:c.1540C>T |
| SMN1 | Spinal muscular atrophy | -0 | del ex7, del ex7-8 |
| SMPD1 | Niemann-Pick disease, type A and type B | NM_000543.4 | NM_000543.4:c.96G>A, NM_000543.4:c.103_107delCTGGT, NM_000543.4:c.106delG, NM_000543.4:c.354delC, NM_000543.4:c.475T>C, NM_000543.4:c.557C>T, NM_000543.4:c.564delC, NM_000543.4:c.564dupC, NM_000543.4:c.573delT, NM_000543.4:c.688C>T, NM_000543.4:c.730G>A, NM_000543.4:c.740delG, NM_000543.4:c.739G>A, NM_000543.4:c.742G>A, NM_000543.4:c.757G>C, NM_000543.4:c.788T>A, NM_000543.4:c.842_849dupTCCCCGCA, NM_000543.4:c.911T>C, NM_000543.4:c.996delC, NM_000543.4:c.1092-1G>C, NM_000543.4:c.1117C>T, NM_000543.4:c.1152G>A, NM_000543.4:c.1264-1G>T, NM_000543.4:c.1267C>T, NM_000543.4:c.1299T>G, NM_000543.4:c.1327C>T, NM_000543.4:c.1420_1421delCT, NM_000543.4:c.1426C>T, NM_000543.4:c.1624C>T, NM_000543.4:c.1630delA, NM_000543.4:c.1805G>A, NM_000543.4:c.1829_1831delGCC |
| SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | NM_004782.3 | NM_004782.3:c.487dupA |
| SPART | Spactic paraplegia, type 20, autosomal recessive | NM_001142294.1 | NM_001142294.1:c.1110delA, NM_001142294.1:c.364_365delAT |
| SPG11 | Amyotrophic lateral sclerosis, type 5, juvenile | NM_025137.3 | NM_025137.3:c.7152-1G>C, NM_025137.3:c.6847_6848dupTC, NM_025137.3:c.6805_6806delCT, NM_025137.3:c.6100C>T, NM_025137.3:c.5623C>T, NM_025137.3:c.1736-1G>C, NM_025137.3:c.1339_1342dupGGCT, NM_025137.3:c.733_734delAT, NM_025137.3:c.529_533delATATT, NM_025137.3:c.342delT, NM_025137.3:c.118C>T |
| SPG7 | Spastic paraplegia, type 7, autosomal recessive | NM_003119.3 | NM_003119.3:c.233T>A, NM_003119.3:c.286+1G>T, NM_003119.3:c.679C>T, NM_003119.3:c.758+2T>C, NM_003119.3:c.773_774delTG, NM_003119.3:c.1045G>A, NM_003119.3:c.1124delG, NM_003119.3:c.1529C>T, NM_003119.3:c.1676delA, NM_003119.3:c.1749G>C, NM_003119.3:c.2075G>C |
| STAR | Lipoid adrenal hyperplasia | NM_000349.2 | NM_000349.2:c.772C>T, NM_000349.2:c.749G>A, NM_000349.2:c.577C>T, NM_000349.2:c.562C>T, NM_000349.2:c.559G>A, NM_000349.2:c.545G>T, NM_000349.2:c.545G>A |
| STIL | Microcephaly, type 7, primary, autosomal recessive | NM_001048166.1 | NM_001048166.1:c.3846_3849delACAG, NM_001048166.1:c.3718C>T, NM_001048166.1:c.3658delG, NM_001048166.1:c.2829+1G>A |
| STRA6 | Microphthalmia, isolated, with coloboma, type 8 | NM_001199042.1 | NM_001199042.1:c.2081G>A, NM_001199042.1:c.2080C>T, NM_001199042.1:c.2048C>T, NM_001199042.1:c.1816C>T, NM_001199042.1:c.1795G>C, NM_001199042.1:c.1638-1G>A, NM_001199042.1:c.1027_1028delGGinsAA, NM_001199042.1:c.995C>T, NM_001199042.1:c.644dupG, NM_001199042.1:c.394_395insCC, NM_001199042.1:c.264delC, NM_001199042.1:c.186G>A, NM_001199042.1:c.169_170delTAinsC |
| STRC | Deafness, autosomal recessive, type 16 | NM_153700.2 | NM_153700.2:c.5188C>T, NM_153700.2:c.5185C>T, NM_153700.2:c.5168_5171delTTCT, NM_153700.2:c.4560dupC, NM_153700.2:c.4545+1G>C, NM_153700.2:c.3556C>T |
| SUCLG1 | Mitochondrial DNA depletion syndrome, type 9 (encephalomyopathic, type with methylmalonic aciduria) | NM_003849.3 | NM_003849.3:c.152_153delAT |
| SUOX | Sulfite oxidase deficiency | NM_000456.2 | NM_000456.2:c.37C>T, NM_000456.2:c.650G>A, NM_000456.2:c.794C>A, NM_000456.2:c.894_895delCT |
| TAT | Tyrosinemia, type 2 | NM_000353.2 | NM_000353.2:c.1297C>T, NM_000353.2:c.1249C>T, NM_000353.2:c.668C>G, NM_000353.2:c.236-5A>G, NM_000353.2:c.169C>T |
| TCAP | Muscular dystrophy, limb-girdle, type 2G | NM_003673.3 | NM_003673.3:c.157C>T |
| TCIRG1 | Osteopetrosis, autosomal recessive, type 1 | NM_006019.3 | NM_006019.3:c.115_116delGA, NM_006019.3:c.1213G>A, NM_006019.3:c.1331G>T, NM_006019.3:c.1674-1G>A, NM_006019.3:c.2236+1G>A |
| TECTA | Deafness, autosomal recessive, type 21 | NM_005422.2 | NM_005422.2:c.651dupC, NM_005422.2:c.2428C>T, NM_005422.2:c.2941+1G>A, NM_005422.2:c.4371_4384dupTCAGTGCGACCCGC, NM_005422.2:c.4601G>A |
| TERT | Dyskeratosis congenita, autosomal recessive, type 4 | NM_198253.2 | NM_198253.2:c.2701C>T, NM_198253.2:c.2431C>T |
| TFR2 | Hemochromatosis, type 3 | NM_001206855.1 | NM_001206855.1:c.2T>A |
| TFR2 | Hemochromatosis, type 3 | NM_003227.3 | NM_003227.3:c.2374G>A, NM_003227.3:c.2343G>A, NM_003227.3:c.2014C>T, NM_003227.3:c.1861_1872delGCCGTGGCCCAG, NM_003227.3:c.1665delC, NM_003227.3:c.1632_1633delGA, NM_003227.3:c.1473+1G>A, NM_003227.3:c.1469T>G, NM_003227.3:c.1330G>A, NM_003227.3:c.1235_1237delACA, NM_003227.3:c.1186C>T, NM_003227.3:c.949C>T, NM_003227.3:c.750C>G, NM_003227.3:c.313C>T |
| TH | Segawa syndrome, recessive | NM_199292.2 | NM_199292.2:c.1481C>T, NM_199292.2:c.1234C>A, NM_199292.2:c.826A>C, NM_199292.2:c.707T>C, NM_199292.2:c.698G>A |
| TIMM8A | Mohr-Tranebjaerg syndrome | NM_004085.3 | NM_004085.3:c.238C>T, NM_004085.3:c.198C>G, NM_004085.3:c.112C>T |
| TK2 | Mitochondrial DNA depletion syndrome , type 2 (myopathic type) | NM_004614.4 | NM_004614.4:c.635T>A, NM_004614.4:c.604_606delAAG, NM_004614.4:c.500G>A, NM_004614.4:c.373C>T, NM_004614.4:c.361C>A, NM_004614.4:c.323C>T, NM_004614.4:c.268C>T, NM_004614.4:c.159C>G |
| TMC1 | Deafness, autosomal recessive, type 7 | NM_138691.2 | NM_138691.2:c.100C>T, NM_138691.2:c.425G>A, NM_138691.2:c.454-1G>C, NM_138691.2:c.1165C>T, NM_138691.2:c.1763+3A>G, NM_138691.2:c.1842G>A, NM_138691.2:c.1960A>G |
| TMEM216 | Joubert syndrome, type 2; Meckel syndrome, type 2 | NM_001173991.2 | NM_001173991.2:c.79_82delAACG, NM_001173991.2:c.218G>A, NM_001173991.2:c.218G>T, NM_001173991.2:c.230G>C, NM_001173991.2:c.253C>T, NM_001173991.2:c.341T>G |
| TMEM67 | Joubert syndrome, type 6; Meckel syndrome, type 3; COACH syndrome | NM_153704.5 | NM_153704.5:c.130C>T, NM_153704.5:c.148_149insTAAT, NM_153704.5:c.622A>T, NM_153704.5:c.755T>C, NM_153704.5:c.1046T>C, NM_153704.5:c.1538A>G, NM_153704.5:c.1769T>C, NM_153704.5:c.2498T>C |
| TMIE | Deafness, autosomal recessive, type 6 | NM_147196.2 | NM_147196.2:c.170G>A, NM_147196.2:c.241C>T, NM_147196.2:c.250C>T |
| TMPRSS3 | Deafness, autosomal recessive, type 8/10 | NM_024022.2 | NM_024022.2:c.1276G>A, NM_024022.2:c.1211C>T, NM_024022.2:c.753G>C, NM_024022.2:c.647G>T, NM_024022.2:c.446+1G>T, NM_024022.2:c.413C>A, NM_024022.2:c.242C>G, NM_024022.2:c.208delC |
| TNNT1 | Nemaline myopathy , type 5, Amish type | NM_003283.5 | NM_003283.5:c.538G>T |
| TPP1 | Ceroid lipofuscinosis, neuronal, type 2 | NM_000391.3 | NM_000391.3:c.1340G>A, NM_000391.3:c.1093T>C, NM_000391.3:c.851G>T, NM_000391.3:c.827A>T, NM_000391.3:c.622C>T, NM_000391.3:c.616C>T, NM_000391.3:c.509-1G>C, NM_000391.3:c.141_144delGAGT |
| TPRN | Deafness, autosomal recessive, type 79 | NM_001128228.2 | NM_001128228.2:c.1427delC, NM_001128228.2:c.1239G>A |
| TREX1 | Aicardi-Goutieres syndrome, type 1 | NM_016381.5 | NM_016381.5:c.309dupC, NM_016381.5:c.506G>A, NM_016381.5:c.655C>T |
| TRIM32 | Muscular dystrophy, limb-girdle, type 2H | NM_001099679.1 | NM_001099679.1:c.1459G>A, NM_001099679.1:c.1560delC |
| TRIM37 | Mulibrey nanism | NM_001005207.3 | NM_001005207.3:c.2212delG, NM_001005207.3:c.2056C>T, NM_001005207.3:c.1668-1G>C, NM_001005207.3:c.1478_1479delAG, NM_001005207.3:c.1411C>T, NM_001005207.3:c.1346dupA, NM_001005207.3:c.1037_1040dupAGAT, NM_001005207.3:c.965G>T, NM_001005207.3:c.745C>T, NM_001005207.3:c.496_500delAGGAA, NM_001005207.3:c.326G>C, NM_001005207.3:c.227T>C |
| TRIOBP | Deafness, autosomal recessive, type 28 | NM_001039141.2 | NM_001039141.2:c.1039C>T, NM_001039141.2:c.1741C>T, NM_001039141.2:c.2362C>T, NM_001039141.2:c.2639_2640insTCAC, NM_001039141.2:c.3195delT, NM_001039141.2:c.3202C>T, NM_001039141.2:c.4436dupG, NM_001039141.2:c.4577C>G, NM_001039141.2:c.5316G>A |
| TSEN54 | Pontocerebellar hypoplasia, type 2A | NM_207346.2 | NM_207346.2:c.670_671delAA, NM_207346.2:c.736C>T, NM_207346.2:c.887G>A, NM_207346.2:c.919G>T, NM_207346.2:c.1027C>T, NM_207346.2:c.1039A>T |
| TSFM | Combined oxidative phosphorylation deficiency, type 3 | NM_001172696.1 | NM_001172696.1:c.1_2delAT, NM_001172696.1:c.24_25delCG, NM_001172696.1:c.581delC, NM_001172696.1:c.919C>T |
| TSHB | Hypothyroidism, congenital, nongoitrous, type 4 | NM_000549.4 | NM_000549.4:c.94G>T, NM_000549.4:c.145G>A, NM_000549.4:c.205C>T |
| TSHR | Hypothyroidism, congenital, nongoitrous, type 1 | NM_000369.2 | NM_000369.2:c.122G>C, NM_000369.2:c.202C>T, NM_000369.2:c.326G>A, NM_000369.2:c.484C>G, NM_000369.2:c.500T>A, NM_000369.2:c.1170T>G, NM_000369.2:c.1742dupC |
| TTN | Limb-girdle muscular dystrophy type 10 (LGMDR10; formerly LGMD2J); Early-onset myopathy with fatal cardiomyopathy | NM_001267550.2 | NM_001267550.2:c.107889delA, NM_001267550.2:c.106070_106071delAT, NM_001267550.2:c.104092delC, NM_001267550.2:c.104092C>T, NM_001267550.2:c.98818_98821delTCCA, NM_001267550.2:c.92373_92379delTGAATTC, NM_001267550.2:c.69344C>G, NM_001267550.2:c.60681dupT, NM_001267550.2:c.56648-1G>A, NM_001267550.2:c.52372delG, NM_001267550.2:c.48253delA, NM_001267550.2:c.47915dupT, NM_001267550.2:c.32471-1G>A, NM_001267550.2:c.28300_28303delAGCA, NM_001267550.2:c.16881C>A, NM_001267550.2:c.15796C>T, NM_001267550.2:c.3165-1G>T |
| TTPA | Ataxia with isolated vitamin E deficiency | NM_000370.3 | NM_000370.3:c.744delA, NM_000370.3:c.661C>T, NM_000370.3:c.575G>A |
| TULP1 | Leber congenital amaurosis, type 15 | NM_003322.4 | NM_003322.4:c.1511_1521delTGCAGTTCGGC, NM_003322.4:c.1471T>C, NM_003322.4:c.1444C>T, NM_003322.4:c.1376T>A, NM_003322.4:c.1318C>T, NM_003322.4:c.1259G>C, NM_003322.4:c.1204G>T, NM_003322.4:c.1198C>T |
| TWNK | Mitochondrial DNA depletion syndrome, type 7 (hepatocerebral type); Perrault syndrome type 5 | NM_021830.4 | NM_021830.4:c.526dupG, NM_021830.4:c.952G>A, NM_021830.4:c.955A>G, NM_021830.4:c.1287C>T, NM_021830.4:c.1370C>T, NM_021830.4:c.1523A>G |
| TYR | Albinism, oculocutaneous, type 1A | NM_000372.4 | NM_000372.4:c.1A>G, NM_000372.4:c.140G>A, NM_000372.4:c.164G>A, NM_000372.4:c.230G>A, NM_000372.4:c.242C>T, NM_000372.4:c.265T>C, NM_000372.4:c.272G>A, NM_000372.4:c.286dupA, NM_000372.4:c.325G>A, NM_000372.4:c.533G>A, NM_000372.4:c.572delG, NM_000372.4:c.616G>A, NM_000372.4:c.646T>A, NM_000372.4:c.650G>A, NM_000372.4:c.823G>T, NM_000372.4:c.896G>A, NM_000372.4:c.1012_1013insC, NM_000372.4:c.1111A>G, NM_000372.4:c.1118C>A, NM_000372.4:c.1146C>A, NM_000372.4:c.1147G>A, NM_000372.4:c.1164delT, NM_000372.4:c.1177delG, NM_000372.4:c.1209G>T, NM_000372.4:c.1217C>T, NM_000372.4:c.1255G>A, NM_000372.4:c.1265G>A, NM_000372.4:c.1336G>A, NM_000372.4:c.1342G>A, NM_000372.4:c.1467dupT, NM_000372.4:c.1501dupC |
| TYRP1 | Albinism, oculocutaneous, type 3 | NM_000550.2 | NM_000550.2:c.107delT, NM_000550.2:c.176C>G, NM_000550.2:c.497C>G, NM_000550.2:c.1057_1060delAACA, NM_000550.2:c.1067G>A, NM_000550.2:c.1103delA, NM_000550.2:c.1120C>T, NM_000550.2:c.1372_1375dupGACA |
| UBR1 | Johanson-Blizzard syndrome | NM_174916.2 | NM_174916.2:c.4254G>A, NM_174916.2:c.1537C>T, NM_174916.2:c.1281+1G>T, NM_174916.2:c.869C>G |
| UGT1A1 | Crigler-Najjar syndrome, type 2 | NM_000463.2 | NM_000463.2:c.44T>G, NM_000463.2:c.1021C>T, NM_000463.2:c.1070A>G, NM_000463.2:c.1456T>G |
| UQCRQ | Mitochondrial complex III deficiency, nuclear, type 4 | NM_014402.4 | NM_014402.4:c.134C>T |
| USH1C | Usher syndrome, type 1C; Deafness, autosomal recessive, type 18A | NM_153676.3 | NM_153676.3:c.2688_2695dupAATTCACC, NM_153676.3:c.2622_2623delCA, NM_153676.3:c.2547-1G>T, NM_153676.3:c.238dupC, NM_153676.3:c.238delC, NM_153676.3:c.216G>A |
| USH1G | Usher syndrome, type 1G | NM_173477.4 | NM_173477.4:c.805C>T, NM_173477.4:c.649C>T, NM_173477.4:c.394dupG, NM_173477.4:c.186_187delCA |
| USH2A | Usher syndrome, type 2A | NM_206933.2 | NM_206933.2:c.15520-1G>A, NM_206933.2:c.15371delT, NM_206933.2:c.15089C>A, NM_206933.2:c.14803C>T, NM_206933.2:c.14442C>A, NM_206933.2:c.13709delG, NM_206933.2:c.12574C>T, NM_206933.2:c.12234_12235delGA, NM_206933.2:c.11864G>A, NM_206933.2:c.10636G>A, NM_206933.2:c.10561T>C, NM_206933.2:c.10073G>A, NM_206933.2:c.9799T>C, NM_206933.2:c.8981G>A, NM_206933.2:c.7364G>A, NM_206933.2:c.6862G>T, NM_206933.2:c.5743_5744delAG, NM_206933.2:c.5573-2A>G, NM_206933.2:c.4338_4339delCT, NM_206933.2:c.3491_3492delCT, NM_206933.2:c.2898delG, NM_206933.2:c.2299delG, NM_206933.2:c.2276G>T, NM_206933.2:c.2167+5G>A, NM_206933.2:c.2135delC, NM_206933.2:c.920_923dupGCCA, NM_206933.2:c.820C>T, NM_206933.2:c.779T>G |
| VDR | Rickets, vitamin D-resistant, type 2A | NM_001017536.1 | NM_001017536.1:c.1135G>A, NM_001017536.1:c.1065C>G, NM_001017536.1:c.1035C>A, NM_001017536.1:c.971G>T, NM_001017536.1:c.389G>A, NM_001017536.1:c.299G>A, NM_001017536.1:c.287G>A, NM_001017536.1:c.238C>T |
| VLDLR | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, type 1 | NM_003383.4 | NM_003383.4:c.769C>T, NM_003383.4:c.844C>T, NM_003383.4:c.2302_2303delGA, NM_003383.4:c.2339delT |
| VPS13A | Choreoacanthocytosis | NM_033305.2 | NM_033305.2:c.622C>T, NM_033305.2:c.2898T>G, NM_033305.2:c.3091delG, NM_033305.2:c.9109C>T, NM_033305.2:c.9275+1G>T |
| VPS33B | Arthrogryposis, renal dysfunction and cholestasis, type 1 | NM_018668.4 | NM_018668.4:c.1594C>T, NM_018668.4:c.1480-1G>T, NM_018668.4:c.1312C>T, NM_018668.4:c.1246C>T, NM_018668.4:c.603+2T>A, NM_018668.4:c.440_449delCTCTTGATGT |
| WAS | Wiskott-Aldrich syndrome; Thrombocytopenia, X-linked | NM_000377.2 | NM_000377.2:c.134C>T, NM_000377.2:c.167C>T, NM_000377.2:c.173C>G, NM_000377.2:c.809T>C, NM_000377.2:c.814T>C, NM_000377.2:c.881T>C, NM_000377.2:c.1442T>A |
| WDR62 | Microcephaly, type 2, primary, autosomal recessive, with or without cortical malformations | NM_001083961.1 | NM_001083961.1:c.193G>A, NM_001083961.1:c.557G>A, NM_001083961.1:c.671G>C, NM_001083961.1:c.702dupG, NM_001083961.1:c.1313G>A, NM_001083961.1:c.1408C>T, NM_001083961.1:c.3514+1delG, NM_001083961.1:c.3574delA |
| WFS1 | Wolfram syndrome, type 1 | NM_001145853.1 | NM_001145853.1:c.616C>T, NM_001145853.1:c.676C>T, NM_001145853.1:c.1060_1062delTTC, NM_001145853.1:c.1230_1233delCTCT, NM_001145853.1:c.1234_1237delGTCT, NM_001145853.1:c.1511C>T, NM_001145853.1:c.1943G>A, NM_001145853.1:c.1944G>A, NM_001145853.1:c.2084G>T, NM_001145853.1:c.2643_2644delCT |
| WHRN | Usher syndrome, type 2D; Deafness, autosomal recessive, type 31 | NM_015404.3 | NM_015404.3:c.817C>T |
| WNT10A | Odontoonychodermal dysplasia | NM_025216.2 | NM_025216.2:c.321C>A, NM_025216.2:c.383G>A, NM_025216.2:c.697G>T |
| WNT7A | Fuhrmann syndrome | NM_004625.3 | NM_004625.3:c.874C>T, NM_004625.3:c.325G>A |
| XPA | Xeroderma pigmentosum, group A | NM_000380.3 | NM_000380.3:c.727C>T, NM_000380.3:c.619C>T, NM_000380.3:c.501delG, NM_000380.3:c.348T>A |
| ZFYVE26 | Spastic paraplegia, type 15, autosomal recessive | NM_015346.3 | NM_015346.3:c.5485-1G>A, NM_015346.3:c.5422C>T, NM_015346.3:c.4936C>T, NM_015346.3:c.4312C>T, NM_015346.3:c.3642_3643insCCACACTTAG, NM_015346.3:c.3206G>A, NM_015346.3:c.3182delT, NM_015346.3:c.2114dupC, NM_015346.3:c.1477C>T |
| ZMPSTE24 | Mandibuloacral dysplasia with, type B lipodystrophy | NM_005857.4 | NM_005857.4:c.54dupT, NM_005857.4:c.121C>T, NM_005857.4:c.955-1G>A, NM_005857.4:c.1018T>C, NM_005857.4:c.1085dupT, NM_005857.4:c.1263dupT, NM_005857.4:c.1349G>A |
| ZNF469 | Brittle cornea syndrome, type 1 | NM_001127464.2 | NM_001127464.2:c.4174G>T |
| Gene | Disease | Transcript | Mutations |
|---|---|---|---|
| ABCA4 | Cone-rod dystrophy type 3 | NM_000350.2 | NM_000350.2:c.3540_3555delGTCTAAGGGTTTCTCC, NM_000350.2:c.2616_2617delCT, NM_000350.2:c.4793C>A, NM_000350.2:c.6179T>G, NM_000350.2:c.1222C>T, NM_000350.2:c.763C>T |
| ABCA4 | Retinitis pigmentosa type 19 | NM_000350.2 | NM_000350.2:c.1848delA |
| ABCA4 | Stargardt disease type 1 | NM_000350.2 | NM_000350.2:c.1018T>G, NM_000350.2:c.4457C>T, NM_000350.2:c.1225delA, NM_000350.2:c.1622T>C, NM_000350.2:c.1715G>A, NM_000350.2:c.1755delA, NM_000350.2:c.1771delT, NM_000350.2:c.1804C>T, NM_000350.2:c.6449G>A, NM_000350.2:c.1938-1G>A, NM_000350.2:c.1964T>G, NM_000350.2:c.2160+1G>T, NM_000350.2:c.2588G>C, NM_000350.2:c.4469G>A, NM_000350.2:c.2690C>T, NM_000350.2:c.2791G>A, NM_000350.2:c.286A>G, NM_000350.2:c.2971G>C, NM_000350.2:c.3083C>T, NM_000350.2:c.3106G>A, NM_000350.2:c.3210_3211dupGT, NM_000350.2:c.3364G>A, NM_000350.2:c.6320G>A, NM_000350.2:c.3970delG, NM_000350.2:c.4139C>T, NM_000350.2:c.4429C>T, NM_000350.2:c.2300T>A, NM_000350.2:c.3322C>T, NM_000350.2:c.52C>T, NM_000350.2:c.5512delC, NM_000350.2:c.5819T>C, NM_000350.2:c.5881G>A, NM_000350.2:c.5882G>A, NM_000350.2:c.5912T>G, NM_000350.2:c.634C>T, NM_000350.2:c.5714+5G>A, NM_000350.2:c.6394G>T, NM_000350.2:c.67-2A>G, NM_000350.2:c.5461-10T>C, NM_000350.2:c.6089G>A, NM_000350.2:c.6118C>T, NM_000350.2:c.6148G>C, NM_000350.2:c.661G>A, NM_000350.2:c.5338C>G |
| ACAD9 | Acyl-CoA dehydrogenase type 9 deficiency | NM_014049.4 | NM_014049.4:c.1240C>T, NM_014049.4:c.1249C>T, NM_014049.4:c.130T>A, NM_014049.4:c.1594C>T, NM_014049.4:c.23delT, NM_014049.4:c.358delT, NM_014049.4:c.797G>A, NM_014049.4:c.976G>C, NM_014049.4:c.453+1G>A |
| ACADM | Acyl-CoA dehydrogenase deficiency, medium-chain | NM_000016.5 | NM_000016.5:c.1102_1105delTTAG, NM_000016.5:c.1232_1233delAA, NM_000016.5:c.287-2A>G, NM_000016.5:c.362C>T, NM_000016.5:c.447G>A, NM_000016.5:c.447G>T, NM_000016.5:c.449_452delCTGA, NM_000016.5:c.616C>T, NM_000016.5:c.617G>A, NM_000016.5:c.683C>A, NM_000016.5:c.797A>G, NM_000016.5:c.799G>A, NM_000016.5:c.815_827delTTGCAATGGGAGC, NM_000016.5:c.890A>G, NM_000016.5:c.984delG, NM_000016.5:c.985A>G, NM_000016.5:c.127G>A, NM_000016.5:c.734C>T, NM_000016.5:c.250C>T |
| ACADS | Acyl-CoA dehydrogenase deficiency, short-chain | NM_000017.2 | NM_000017.2:c.1095G>T, NM_000017.2:c.1108A>G, NM_000017.2:c.1147C>T, NM_000017.2:c.136C>T, NM_000017.2:c.319C>T, NM_000017.2:c.417G>C, NM_000017.2:c.529T>C, NM_000017.2:c.561_568delCAATGCCT, NM_000017.2:c.826G>A, NM_000017.2:c.314T>A |
| ACADSB | 2-Methylbutyryl-CoA dehydrogenase deficiency | NM_001609.3 | NM_001609.3:c.1159G>A, NM_001609.3:c.443C>T, NM_001609.3:c.763C>T, NM_001609.3:c.621G>A, NM_001609.3:c.303+1G>A |
| ACADVL | Very long chain acyl-CoA dehydrogenase deficiency | NM_000018.3 | NM_000018.3:c.1096C>T, NM_000018.3:c.1097G>A, NM_000018.3:c.1106T>C, NM_000018.3:c.1141_1143delGAG, NM_000018.3:c.1182+1G>A, NM_000018.3:c.1357C>T, NM_000018.3:c.1360G>A, NM_000018.3:c.1375dupC, NM_000018.3:c.1389dupG, NM_000018.3:c.1406G>A, NM_000018.3:c.1468G>C, NM_000018.3:c.1532+1G>A, NM_000018.3:c.1837C>T, NM_000018.3:c.1843C>T, NM_000018.3:c.1882delC, NM_000018.3:c.278-1G>A, NM_000018.3:c.298_299delCA, NM_000018.3:c.343delG, NM_000018.3:c.400C>T, NM_000018.3:c.477+1G>C, NM_000018.3:c.520G>A, NM_000018.3:c.685C>T, NM_000018.3:c.739A>C, NM_000018.3:c.753-2A>C, NM_000018.3:c.896_898delAGA, NM_000018.3:c.917T>C, NM_000018.3:c.1844G>A, NM_000018.3:c.848T>C |
| ACE | Renal tubular dysgenesis | NM_000789.3 | NM_000789.3:c.1319_1322delTGGA, NM_000789.3:c.1510delC, NM_000789.3:c.3381-4C>T, NM_000789.3:c.798C>G, NM_000789.3:c.1486C>T, NM_000789.3:c.2371C>T, NM_000789.3:c.1587-2A>G |
| ADA | Adenosine deaminase deficiency | NM_000022.2 | NM_000022.2:c.226C>T, NM_000022.2:c.632G>A, NM_000022.2:c.890C>A, NM_000022.2:c.247G>A, NM_000022.2:c.320T>C, NM_000022.2:c.872C>T, NM_000022.2:c.956_960delAAGAG, NM_000022.2:c.986C>T |
| ADCK3 | Primary coenzyme Q10 deficiency type 4 | NM_020247.4 | NM_020247.4:c.911C>T, NM_020247.4:c.815G>T, NM_020247.4:c.993C>T, NM_020247.4:c.1541A>G, NM_020247.4:c.1645G>A, NM_020247.4:c.1651G>A, NM_020247.4:c.1750_1752delACC, NM_020247.4:c.1813_1814insG, NM_020247.4:c.589-3C>G, NM_020247.4:c.637C>T, NM_020247.4:c.815G>A |
| AGL | Glycogen storage disease type 3 | NM_000642.2 | NM_000642.2:c.1783C>T, NM_000642.2:c.18_19delGA, NM_000642.2:c.112A>G, NM_000642.2:c.1222C>T, NM_000642.2:c.1481G>A, NM_000642.2:c.1485delT, NM_000642.2:c.16C>T, NM_000642.2:c.4260-1G>T, NM_000642.2:c.3214_3215delGA, NM_000642.2:c.1999delC, NM_000642.2:c.2039G>A, NM_000642.2:c.2590C>T, NM_000642.2:c.4456delT, NM_000642.2:c.3216_3217delGA, NM_000642.2:c.3980G>A, NM_000642.2:c.4342G>C, NM_000642.2:c.4529dupA, NM_000642.2:c.294-2A>T, NM_000642.2:c.4260-12A>G |
| AGXT | Primary hyperoxaluria type 1 | NM_000030.2 | NM_000030.2:c.166-2A>G, NM_000030.2:c.121G>A, NM_000030.2:c.32C>A, NM_000030.2:c.245G>A, NM_000030.2:c.25_26insC, NM_000030.2:c.322T>C, NM_000030.2:c.508G>A, NM_000030.2:c.560C>T, NM_000030.2:c.590G>A, NM_000030.2:c.613T>C, NM_000030.2:c.697C>T, NM_000030.2:c.698G>A, NM_000030.2:c.731T>C, NM_000030.2:c.738G>A, NM_000030.2:c.836T>C, NM_000030.2:c.860G>A, NM_000030.2:c.33_34insC, NM_000030.2:c.454T>A, NM_000030.2:c.466G>A, NM_000030.2:c.248A>G |
| AHI1 | Joubert syndrome type 3 | NM_017651.4 | NM_017651.4:c.1303C>T, NM_017651.4:c.1484G>A, NM_017651.4:c.2295_2296insA, NM_017651.4:c.2295dupA, NM_017651.4:c.3257A>G, NM_017651.4:c.2168G>A, NM_017651.4:c.985C>T, NM_017651.4:c.989A>G, NM_017651.4:c.3263_3264delGG, NM_017651.4:c.1051C>T, NM_017651.4:c.1052G>T |
| AIPL1 | Cone-rod dystrophy | NM_014336.4 | NM_014336.4:c.1053_1064delTGCAGAGCCACC |
| AIPL1 | Leber congenital amaurosis type 4 | NM_014336.4 | NM_014336.4:c.905G>T, NM_014336.4:c.834G>A, NM_014336.4:c.589G>C, NM_014336.4:c.715T>C |
| ALDOB | Hereditary fructose intolerance | NM_000035.3 | NM_000035.3:c.1005C>G, NM_000035.3:c.178C>T, NM_000035.3:c.1027T>C, NM_000035.3:c.10C>T, NM_000035.3:c.136A>T, NM_000035.3:c.448G>C, NM_000035.3:c.2T>C, NM_000035.3:c.360_363delCAAA, NM_000035.3:c.442T>C, NM_000035.3:c.1013C>T, NM_000035.3:c.113-1_115delGGTA, NM_000035.3:c.1067C>A, NM_000035.3:c.612T>A, NM_000035.3:c.720C>A, NM_000035.3:c.524C>A |
| ALG6 | Congenital disorders of glycosylation type Ic | NM_013339.3 | NM_013339.3:c.897_899delAAT, NM_013339.3:c.998C>T, NM_013339.3:c.495-3C>G, NM_013339.3:c.53G>A, NM_013339.3:c.316C>T, NM_013339.3:c.482A>G, NM_013339.3:c.1432T>C |
| ALMS1 | Alström syndrome | NM_015120.4 | NM_015120.4:c.11443C>T, NM_015120.4:c.10775delC, NM_015120.4:c.11316_11319delAGAG, NM_015120.4:c.2323C>T, NM_015120.4:c.11449C>T, NM_015120.4:c.11452_11453insA, NM_015120.4:c.1574_1576delCTCinsT, NM_015120.4:c.8383C>T, NM_015120.4:c.9612_9616delAACAG, NM_015120.4:c.10579_10580delAT, NM_015120.4:c.11610_11611delCT, NM_015120.4:c.12439C>T, NM_015120.4:c.12445C>T, NM_015120.4:c.891_907delTCAGCACCCGCTTATAG, NM_015120.4:c.9911-1G>A, NM_015120.4:c.11618_11619delCT, NM_015120.4:c.4245delC, NM_015120.4:c.5584C>T, NM_015120.4:c.8164C>T |
| ANO5 | Limb-girdle muscular dystrophy type 2L, autosomal recessive | NM_213599.2 | NM_213599.2:c.155A>G, NM_213599.2:c.1622_1623insA, NM_213599.2:c.1407+5G>A, NM_213599.2:c.1887delA, NM_213599.2:c.1733T>C, NM_213599.2:c.692G>T, NM_213599.2:c.1627_1628insA, NM_213599.2:c.172C>T, NM_213599.2:c.206_207delAT, NM_213599.2:c.1210C>T, NM_213599.2:c.1295C>G, NM_213599.2:c.1914G>A, NM_213599.2:c.184_185insA, NM_213599.2:c.1898+1G>A, NM_213599.2:c.191_192insA |
| APTX | Ataxia with oculomotor apraxia type 1 | NM_175073.2 | NM_175073.2:c.167delT, NM_175073.2:c.788T>G, NM_175073.2:c.320delC, NM_175073.2:c.617C>T, NM_175073.2:c.659C>T, NM_175073.2:c.134-2A>G, NM_175073.2:c.166C>T, NM_175073.2:c.124C>T, NM_175073.2:c.875-1G>A, NM_175073.2:c.837G>A, NM_175073.2:c.596G>A |
| AR | Androgen insensitivity syndrome | NM_000044.3 | NM_000044.3:c.2650A>T, NM_000044.3:c.340C>T, NM_000044.3:c.1937C>A, NM_000044.3:c.2323C>T, NM_000044.3:c.2391G>A, NM_000044.3:c.2567G>A, NM_000044.3:c.1769-11T>A, NM_000044.3:c.1771A>T, NM_000044.3:c.2395C>G |
| ARSA | Metachromatic leukodystrophy | NM_000487.5 | NM_000487.5:c.1241delC, NM_000487.5:c.1283C>T, NM_000487.5:c.346C>T, NM_000487.5:c.34delG, NM_000487.5:c.1210+1G>A, NM_000487.5:c.1232C>T, NM_000487.5:c.582delC, NM_000487.5:c.583delT, NM_000487.5:c.542dupT, NM_000487.5:c.542T>G, NM_000487.5:c.1408_1418delGCAGCTGTGAC, NM_000487.5:c.195delC, NM_000487.5:c.641C>T, NM_000487.5:c.1401_1411delGTTAGACGCAG, NM_000487.5:c.869G>A, NM_000487.5:c.869G>T, NM_000487.5:c.883G>A, NM_000487.5:c.899T>C, NM_000487.5:c.931G>A, NM_000487.5:c.937C>T, NM_000487.5:c.938G>A, NM_000487.5:c.979G>A, NM_000487.5:c.737G>A, NM_000487.5:c.739G>A, NM_000487.5:c.763G>A, NM_000487.5:c.827C>T, NM_000487.5:c.854+1G>A, NM_000487.5:c.1108-2A>G, NM_000487.5:c.1125_1126delCT, NM_000487.5:c.1150G>A, NM_000487.5:c.1174C>T, NM_000487.5:c.1175G>A, NM_000487.5:c.986C>T, NM_000487.5:c.991G>T, NM_000487.5:c.465+1G>A, NM_000487.5:c.257G>A, NM_000487.5:c.293C>T, NM_000487.5:c.302G>A |
| ARSB | Mucopolysaccharidosis type 6 | NM_000046.3 | NM_000046.3:c.410G>T, NM_000046.3:c.427delG, NM_000046.3:c.349T>C, NM_000046.3:c.389C>T, NM_000046.3:c.937C>G, NM_000046.3:c.944G>A, NM_000046.3:c.971G>T, NM_000046.3:c.979C>T, NM_000046.3:c.1562G>A, NM_000046.3:c.629A>G, NM_000046.3:c.1143-1G>C, NM_000046.3:c.571C>T, NM_000046.3:c.589C>T, NM_000046.3:c.1178A>C, NM_000046.3:c.1214G>A, NM_000046.3:c.1143-8T>G, NM_000046.3:c.1161dupC, NM_000046.3:c.707T>C, NM_000046.3:c.753C>G, NM_000046.3:c.1366C>T, NM_000046.3:c.1438_1439insG, NM_000046.3:c.921delA |
| ARSE | Chondrodysplasia punctata type 1, X-linked | NM_000047.2 | NM_000047.2:c.119T>G, NM_000047.2:c.1429delG, NM_000047.2:c.1442C>T, NM_000047.2:c.1732C>T, NM_000047.2:c.1743G>A, NM_000047.2:c.24-1G>A, NM_000047.2:c.410G>C, NM_000047.2:c.410G>T |
| ASL | Argininosuccinic aciduria | NM_000048.3 | NM_000048.3:c.1135C>T, NM_000048.3:c.1060C>T, NM_000048.3:c.1255_1256delCT, NM_000048.3:c.1366C>T, NM_000048.3:c.1045_1057delGTCATCTCTACGC, NM_000048.3:c.578G>A, NM_000048.3:c.539T>G, NM_000048.3:c.544C>T, NM_000048.3:c.557G>A, NM_000048.3:c.1144-2A>G, NM_000048.3:c.602+1G>A, NM_000048.3:c.857A>G, NM_000048.3:c.925G>A, NM_000048.3:c.446+1G>A, NM_000048.3:c.505T>C, NM_000048.3:c.525-2A>T, NM_000048.3:c.532G>A, NM_000048.3:c.337C>T, NM_000048.3:c.346C>T, NM_000048.3:c.35G>A, NM_000048.3:c.1369dupG, NM_000048.3:c.437G>A, NM_000048.3:c.392C>T, NM_000048.3:c.1153C>T |
| ASPA | Canavan disease | NM_000049.2 | NM_000049.2:c.838C>T, NM_000049.2:c.693C>A, NM_000049.2:c.654C>A, NM_000049.2:c.433-2A>G, NM_000049.2:c.854A>C, NM_000049.2:c.914C>A, NM_000049.2:c.212G>A, NM_000049.2:c.863A>G |
| ASPM | Microcephaly primary, type 5, autosomal recessive | NM_018136.4 | NM_018136.4:c.1002delA, NM_018136.4:c.3055C>T, NM_018136.4:c.2389C>T, NM_018136.4:c.2967G>A, NM_018136.4:c.1260_1266delTCAAGTC, NM_018136.4:c.10059C>A, NM_018136.4:c.1154_1155delAG, NM_018136.4:c.1179delT, NM_018136.4:c.1729_1730delAG, NM_018136.4:c.1959_1962delCAAA, NM_018136.4:c.1990C>T, NM_018136.4:c.3979C>T, NM_018136.4:c.4195dupA, NM_018136.4:c.4583delA, NM_018136.4:c.4795C>T, NM_018136.4:c.4858_4859delAT, NM_018136.4:c.5136C>A, NM_018136.4:c.5149delA, NM_018136.4:c.1366G>T, NM_018136.4:c.1406_1413delATCCTAAA, NM_018136.4:c.1590delA, NM_018136.4:c.6189T>G, NM_018136.4:c.6232C>T, NM_018136.4:c.6337_6338delAT, NM_018136.4:c.6732delA, NM_018136.4:c.719_720delCT, NM_018136.4:c.7491_7495delTATTA, NM_018136.4:c.7565T>G, NM_018136.4:c.7761T>G, NM_018136.4:c.7782_7783delGA, NM_018136.4:c.7860_7861delGA, NM_018136.4:c.7894C>T, NM_018136.4:c.8131_8132delAA, NM_018136.4:c.8230_8231insA, NM_018136.4:c.8378delT, NM_018136.4:c.8508_8509delGA, NM_018136.4:c.8668C>T, NM_018136.4:c.8844delC, NM_018136.4:c.9115_9118dupCATT, NM_018136.4:c.9159delA, NM_018136.4:c.9178C>T, NM_018136.4:c.3082G>A, NM_018136.4:c.3188T>G, NM_018136.4:c.3477_3481delCGCTA, NM_018136.4:c.349C>T, NM_018136.4:c.3527C>G, NM_018136.4:c.3663delG, NM_018136.4:c.3710C>G, NM_018136.4:c.3796G>T, NM_018136.4:c.3811C>T, NM_018136.4:c.3978G>A, NM_018136.4:c.9747_9748delCT, NM_018136.4:c.9754delA, NM_018136.4:c.9789T>A, NM_018136.4:c.8711_8712delAA, NM_018136.4:c.9190C>T, NM_018136.4:c.9238A>T, NM_018136.4:c.9319C>T, NM_018136.4:c.5439_5440delAG, NM_018136.4:c.577C>T, NM_018136.4:c.6073delG, NM_018136.4:c.9677dupG, NM_018136.4:c.9685delA, NM_018136.4:c.9697C>T, NM_018136.4:c.9730C>T, NM_018136.4:c.9557C>G, NM_018136.4:c.9492T>G, NM_018136.4:c.9539A>C |
| ASS1 | Citrullinemia type 1 | NM_000050.4 | NM_000050.4:c.421-2A>G, NM_000050.4:c.40G>A, NM_000050.4:c.1088G>A, NM_000050.4:c.470G>A, NM_000050.4:c.1085G>T, NM_000050.4:c.1087C>T, NM_000050.4:c.257G>A, NM_000050.4:c.323G>T, NM_000050.4:c.349G>A, NM_000050.4:c.380G>A, NM_000050.4:c.836G>A, NM_000050.4:c.910C>T, NM_000050.4:c.928A>C, NM_000050.4:c.496-2A>G, NM_000050.4:c.535T>C, NM_000050.4:c.539G>A, NM_000050.4:c.53C>T, NM_000050.4:c.571G>A, NM_000050.4:c.787G>A, NM_000050.4:c.793C>T, NM_000050.4:c.794G>A, NM_000050.4:c.805G>A, NM_000050.4:c.835C>T, NM_000050.4:c.919C>T, NM_000050.4:c.970G>A, NM_000050.4:c.814C>T, NM_000050.4:c.970+5G>A, NM_000050.4:c.1168G>A, NM_000050.4:c.1194-1G>C, NM_000050.4:c.256C>T |
| ATIC | AICA-ribosiduria | NM_004044.6 | NM_004044.6:c.223+1G>A, NM_004044.6:c.1277A>G, NM_004044.6:c.625delG |
| ATP7B | Wilson disease | NM_000053.3 | NM_000053.3:c.2532delA, NM_000053.3:c.2356-2A>G, NM_000053.3:c.1285+5G>T, NM_000053.3:c.2305A>G, NM_000053.3:c.1145_1151delCCCAACT, NM_000053.3:c.1934T>G, NM_000053.3:c.2071G>A, NM_000053.3:c.2297C>G, NM_000053.3:c.2972C>T, NM_000053.3:c.2975C>T, NM_000053.3:c.3083delA, NM_000053.3:c.2605G>A, NM_000053.3:c.2621C>T, NM_000053.3:c.2755C>G, NM_000053.3:c.2755C>T, NM_000053.3:c.2762G>A, NM_000053.3:c.2795C>A, NM_000053.3:c.2804C>T, NM_000053.3:c.2807T>A, NM_000053.3:c.2906G>A, NM_000053.3:c.2930C>T, NM_000053.3:c.4301C>T, NM_000053.3:c.915T>A, NM_000053.3:c.98T>C, NM_000053.3:c.1745_1746delTA, NM_000053.3:c.2123T>C, NM_000053.3:c.2267C>T, NM_000053.3:c.4088C>T, NM_000053.3:c.4135C>T, NM_000053.3:c.1512_1513insT, NM_000053.3:c.19_20delCA, NM_000053.3:c.1922T>C, NM_000053.3:c.3955C>T, NM_000053.3:c.3990_3993delTTAT, NM_000053.3:c.4058G>A, NM_000053.3:c.3207C>A, NM_000053.3:c.3359T>A, NM_000053.3:c.3688A>G, NM_000053.3:c.3101A>G, NM_000053.3:c.3796G>A, NM_000053.3:c.3809A>G, NM_000053.3:c.562C>T, NM_000053.3:c.3694A>C, NM_000053.3:c.1846C>T |
| ATR | Seckel syndrome type 1 | NM_001184.3 | NM_001184.3:c.2341+1G>A, NM_001184.3:c.5645delA, NM_001184.3:c.6037_6038insA, NM_001184.3:c.6488delT, NM_001184.3:c.975_976delCT, NM_001184.3:c.5635G>T |
| BCKDHA | Maple syrup urine disease type 1A | NM_000709.3 | NM_000709.3:c.1037G>A, NM_000709.3:c.1036C>T, NM_000709.3:c.1234G>A, NM_000709.3:c.14delT, NM_000709.3:c.761C>A, NM_000709.3:c.929C>G, NM_000709.3:c.964C>T, NM_000709.3:c.979G>A, NM_000709.3:c.905A>C, NM_000709.3:c.632C>T, NM_000709.3:c.659C>T, NM_000709.3:c.740_741insT, NM_000709.3:c.868G>A, NM_000709.3:c.909_910delGT, NM_000709.3:c.917delT, NM_000709.3:c.853G>C, NM_000709.3:c.796delA |
| BCS1L | Björnstad syndrome | NM_004328.4 | NM_004328.4:c.548G>A |
| BCS1L | GRACILE syndrome | NM_004328.4 | NM_004328.4:c.232A>G |
| BCS1L | Mitochondrial comlpex III deficiency, nuclear type 1 | NM_004328.4 | NM_004328.4:c.1057G>A, NM_004328.4:c.830G>A, NM_004328.4:c.133C>T, NM_004328.4:c.103G>C, NM_004328.4:c.696delT, NM_004328.4:c.148A>G, NM_004328.4:c.166C>T, NM_004328.4:c.550C>T, NM_004328.4:c.547C>T |
| BEST1 | Bestrophinopathy | NM_004183.3 | NM_004183.3:c.934G>A, NM_004183.3:c.598C>T, NM_004183.3:c.752G>A, NM_004183.3:c.949G>A, NM_004183.3:c.521_522delTG |
| BEST1 | Retinitis pigmentosa type 50 | NM_004183.3 | NM_004183.3:c.1383_1384insGCCTTGATGGA, NM_004183.3:c.1444delG, NM_004183.3:c.1491_1497dupCAAAGAC, NM_004183.3:c.1566_1576dupCTTGATGGAGC, NM_004183.3:c.341_342delTG, NM_004183.3:c.1308_1309insACCAAAG, NM_004183.3:c.1264delG, NM_004183.3:c.418C>G, NM_004183.3:c.614T>C, NM_004183.3:c.682G>A, NM_004183.3:c.344delG, NM_004183.3:c.524delG |
| BEST1 | Vitelliform macular dystrophy type 2 | NM_004183.3 | NM_004183.3:c.122T>C, NM_004183.3:c.422G>A |
| BRCA2 | Fanconi anemia, complementation group D1 | NM_000059.3 | NM_000059.3:c.1514T>C, NM_000059.3:c.4648G>T, NM_000059.3:c.8415A>T, NM_000059.3:c.7544C>T, NM_000059.3:c.7994A>G, NM_000059.3:c.5574_5577delAATT, NM_000059.3:c.4889C>G, NM_000059.3:c.4936_4939delGAAA, NM_000059.3:c.5066_5067insA, NM_000059.3:c.6024dupG, NM_000059.3:c.6860delG, NM_000059.3:c.7235C>A, NM_000059.3:c.9382C>T, NM_000059.3:c.9900dupA, NM_000059.3:c.3847_3848delGT, NM_000059.3:c.5718_5719delCT, NM_000059.3:c.5837_5838delCAinsAG, NM_000059.3:c.6023_6024insG, NM_000059.3:c.8503T>C, NM_000059.3:c.6486_6489delACAA, NM_000059.3:c.657_658delTG, NM_000059.3:c.6997_6998insT |
| BRIP1 | Fanconi anemia, complementation group J | NM_032043.2 | NM_032043.2:c.2990_2993delCAAA, NM_032043.2:c.1045G>C, NM_032043.2:c.2237_2240delTCAA, NM_032043.2:c.3209C>A, NM_032043.2:c.502C>T, NM_032043.2:c.139C>G, NM_032043.2:c.1702_1703delAA, NM_032043.2:c.2392C>T |
| BSND | Bartter syndrome type 4A | NM_057176.2 | NM_057176.2:c.1A>T, NM_057176.2:c.22C>T, NM_057176.2:c.3G>A, NM_057176.2:c.10G>T, NM_057176.2:c.23G>T, NM_057176.2:c.35T>C, NM_057176.2:c.23G>A, NM_057176.2:c.139G>A |
| BTD | Biotinidase deficiency | NM_000060.3 | NM_000060.3:c.1531C>G, NM_000060.3:c.1508_1512delGGATG, NM_000060.3:c.1339C>T, NM_000060.3:c.1352G>A, NM_000060.3:c.1489C>T, NM_000060.3:c.643C>T, NM_000060.3:c.664G>A, NM_000060.3:c.755A>G, NM_000060.3:c.1368A>C, NM_000060.3:c.933delT, NM_000060.3:c.1595C>T, NM_000060.3:c.1612C>T, NM_000060.3:c.757C>T, NM_000060.3:c.1106C>T, NM_000060.3:c.1321delG, NM_000060.3:c.794A>T, NM_000060.3:c.595G>A, NM_000060.3:c.629A>G, NM_000060.3:c.631C>T, NM_000060.3:c.235C>T, NM_000060.3:c.334G>C, NM_000060.3:c.511G>A, NM_000060.3:c.184G>A, NM_000060.3:c.557G>A, NM_000060.3:c.583A>G, NM_000060.3:c.968A>G, NM_000060.3:c.528G>T, NM_000060.3:c.443G>A |
| CAPN3 | Limb-girdle muscular dystrophy type 2A | NM_000070.2 | NM_000070.2:c.1838delA, NM_000070.2:c.2120A>G, NM_000070.2:c.1795_1796insA, NM_000070.2:c.1469G>A, NM_000070.2:c.1599_1602delGAGC, NM_000070.2:c.1715G>A, NM_000070.2:c.1743_1745+1delTGAG, NM_000070.2:c.257C>T, NM_000070.2:c.328C>T, NM_000070.2:c.549delA, NM_000070.2:c.2212C>T, NM_000070.2:c.223dupT, NM_000070.2:c.2243G>A, NM_000070.2:c.2251_2254dupGTCA, NM_000070.2:c.2257G>A, NM_000070.2:c.2306G>A, NM_000070.2:c.2361_2363delAGinsTCATCT, NM_000070.2:c.2361_2364delAGinsTCATCT, NM_000070.2:c.2362_2363delAGinsTCATCT, NM_000070.2:c.246G>A, NM_000070.2:c.676G>A, NM_000070.2:c.551C>T, NM_000070.2:c.580delT, NM_000070.2:c.133G>A, NM_000070.2:c.550delA, NM_000070.2:c.1468C>T, NM_000070.2:c.956C>T, NM_000070.2:c.1322delG, NM_000070.2:c.1466G>A, NM_000070.2:c.662G>T, NM_000070.2:c.855_864dupGTTGATTGCA, NM_000070.2:c.1610A>G, NM_000070.2:c.598_612delTTCTGGAGTGCTCTG |
| CBS | Homocystinuria | NM_000071.2 | NM_000071.2:c.1150A>G, NM_000071.2:c.1058C>T, NM_000071.2:c.1136G>A, NM_000071.2:c.341C>T, NM_000071.2:c.1006C>T, NM_000071.2:c.325T>C, NM_000071.2:c.1316G>A, NM_000071.2:c.374G>A, NM_000071.2:c.1265C>T, NM_000071.2:c.1280C>T, NM_000071.2:c.146C>T, NM_000071.2:c.1471C>T, NM_000071.2:c.1616T>C, NM_000071.2:c.162G>A, NM_000071.2:c.833T>C, NM_000071.2:c.904G>A, NM_000071.2:c.919G>A, NM_000071.2:c.393G>C, NM_000071.2:c.415G>A, NM_000071.2:c.430G>A, NM_000071.2:c.434C>T, NM_000071.2:c.502G>A, NM_000071.2:c.526G>T, NM_000071.2:c.572C>T, NM_000071.2:c.676G>A, NM_000071.2:c.689delT, NM_000071.2:c.797G>A, NM_000071.2:c.959T>C, NM_000071.2:c.969G>A, NM_000071.2:c.992C>A, NM_000071.2:c.1330G>A, NM_000071.2:c.1379C>T, NM_000071.2:c.1397C>T, NM_000071.2:c.304A>C |
| CC2D2A | Joubert syndrome type 9 | NM_001080522.2 | NM_001080522.2:c.4179delG, NM_001080522.2:c.3594+1G>A, NM_001080522.2:c.3289delG, NM_001080522.2:c.4582C>T, NM_001080522.2:c.4667A>T, NM_001080522.2:c.2848C>T, NM_001080522.2:c.3364C>T, NM_001080522.2:c.4333C>T, NM_001080522.2:c.4181delG |
| CC2D2A | Meckel syndrome type 6 | NM_001080522.2 | NM_001080522.2:c.3145C>T, NM_001080522.2:c.2486+1G>C |
| CDH23 | Deafness type 12, autosomal recessive | NM_022124.5 | NM_022124.5:c.6442G>A, NM_022124.5:c.5663T>C, NM_022124.5:c.9565C>T, NM_022124.5:c.7823G>A, NM_022124.5:c.902G>A |
| CDH23 | Usher syndrome type 1D | NM_022124.5 | NM_022124.5:c.288+1G>A, NM_022124.5:c.193delC, NM_022124.5:c.6050-9G>A, NM_022124.5:c.3141C>A, NM_022124.5:c.146-2A>G, NM_022124.5:c.4504C>T, NM_022124.5:c.3516_3519delATCC, NM_022124.5:c.3579+2T>C, NM_022124.5:c.3293A>G, NM_022124.5:c.9319+1_9319+4delGTAA, NM_022124.5:c.5237G>A, NM_022124.5:c.1858+2T>G, NM_022124.5:c.6392delC, NM_022124.5:c.7660G>A |
| CDHR1 | Retinitis pigmentosa type 65 | NM_033100.3 | NM_033100.3:c.1485+2T>C, NM_033100.3:c.1463delG, NM_033100.3:c.1110delC, NM_033100.3:c.338delG, NM_033100.3:c.524dupA, NM_033100.3:c.1485+2T>G, NM_033100.3:c.1112delC, NM_033100.3:c.640delG |
| CENPJ | Microcephaly primary, type 6, autosomal recessive | NM_018451.4 | NM_018451.4:c.3243_3246delTCAG, NM_018451.4:c.2614delT, NM_018451.4:c.3415G>T, NM_018451.4:c.3653C>T, NM_018451.4:c.2462C>T, NM_018451.4:c.3699_3702dupAATA, NM_018451.4:c.3568_3571dupGTCA, NM_018451.4:c.3843_3844insTA, NM_018451.4:c.757_760delGTCT, NM_018451.4:c.1952_1953insAGTG, NM_018451.4:c.3704A>T, NM_018451.4:c.232_236delCAGAA, NM_018451.4:c.2460_2463delGACG, NM_018451.4:c.2968_2972delAAAAA, NM_018451.4:c.40C>T, NM_018451.4:c.289dupA |
| CEP290 | Joubert syndrome, Senior-Loken type | NM_025114.3 | NM_025114.3:c.5611_5614delCAAA, NM_025114.3:c.164_167delCTCA |
| CEP290 | Joubert syndrome type 5 | NM_025114.3 | NM_025114.3:c.4656delA, NM_025114.3:c.21G>T, NM_025114.3:c.5668G>T |
| CEP290 | Leber congenital amaurosis type 10 | NM_025114.3 | NM_025114.3:c.7341_7342insA, NM_025114.3:c.4705-1G>T, NM_025114.3:c.4723A>T, NM_025114.3:c.4962_4963delAA, NM_025114.3:c.4916C>A, NM_025114.3:c.6624delG, NM_025114.3:c.6645+1G>A, NM_025114.3:c.7324G>T, NM_025114.3:c.6798G>A, NM_025114.3:c.7394_7395delAG, NM_025114.3:c.1681C>T, NM_025114.3:c.7341delA, NM_025114.3:c.6448_6455delCAGTTGAA, NM_025114.3:c.1665_1666delAA, NM_025114.3:c.384_387delTAGA, NM_025114.3:c.2249T>G, NM_025114.3:c.3185delT, NM_025114.3:c.4393C>T, NM_025114.3:c.1501G>T |
| CEP290 | Meckel syndrome type 4 | NM_025114.3 | NM_025114.3:c.613C>T |
| CERKL | Retinitis pigmentosa tipo 26 | NM_201548.4 | NM_201548.4:c.1012C>T, NM_201548.4:c.1090C>T, NM_201548.4:c.312delA, NM_201548.4:c.715C>T, NM_201548.4:c.769C>T, NM_201548.4:c.780delT, NM_201548.4:c.847C>T, NM_201548.4:c.1553_1569dupTTATCAGTCTTTATGGA |
| CFH | Complement factor H deficiency | NM_000186.3 | NM_000186.3:c.3628C>T, NM_000186.3:c.2876G>A, NM_000186.3:c.380G>T, NM_000186.3:c.481G>T, NM_000186.3:c.1606T>C |
| CFTR | Cystic fibrosis | NM_000492.3 | NM_000492.3:c.1327_1330dupGATA, NM_000492.3:c.1210-7_1210-6delTT, NM_000492.3:c.125C>T, NM_000492.3:c.1301_1307delCACTTCT, NM_000492.3:c.1397C>A, NM_000492.3:c.1340delA, NM_000492.3:c.1364C>A, NM_000492.3:c.1393-1G>A, NM_000492.3:c.1438G>T, NM_000492.3:c.1466C>A, NM_000492.3:c.1475C>T, NM_000492.3:c.1477C>T, NM_000492.3:c.1516A>G, NM_000492.3:c.1519_1521delATC, NM_000492.3:c.1521_1523delCTT, NM_000492.3:c.1545_1546delTA, NM_000492.3:c.1624G>T, NM_000492.3:c.1692delA, NM_000492.3:c.1706A>G, NM_000492.3:c.1721C>A, NM_000492.3:c.178G>T, NM_000492.3:c.1970delG, NM_000492.3:c.200C>T, NM_000492.3:c.2012delT, NM_000492.3:c.2051_2052delAAinsG, NM_000492.3:c.2052_2053insA, NM_000492.3:c.2052delA, NM_000492.3:c.1000C>T, NM_000492.3:c.1007T>A, NM_000492.3:c.1013C>T, NM_000492.3:c.1021T>C, NM_000492.3:c.1022_1023insTC, NM_000492.3:c.1040G>A, NM_000492.3:c.1040G>C, NM_000492.3:c.1055G>A, NM_000492.3:c.1081delT, NM_000492.3:c.115C>T, NM_000492.3:c.2538G>A, NM_000492.3:c.254G>A, NM_000492.3:c.2551C>T, NM_000492.3:c.2583delT, NM_000492.3:c.262_263delTT, NM_000492.3:c.2657+5G>A, NM_000492.3:c.2668C>T, NM_000492.3:c.273+1G>A, NM_000492.3:c.2737_2738insG, NM_000492.3:c.2739T>A, NM_000492.3:c.274-1G>A, NM_000492.3:c.274G>A, NM_000492.3:c.274G>T, NM_000492.3:c.2780T>C, NM_000492.3:c.2834C>T, NM_000492.3:c.2855T>C, NM_000492.3:c.2869_2870insG, NM_000492.3:c.2875delG, NM_000492.3:c.2908G>C, NM_000492.3:c.292C>T, NM_000492.3:c.2939T>A, NM_000492.3:c.2989-1G>A, NM_000492.3:c.3067_3072delATAGTG, NM_000492.3:c.3140-26A>G, NM_000492.3:c.3194T>C, NM_000492.3:c.3196C>T, NM_000492.3:c.3197G>A, NM_000492.3:c.3230T>C, NM_000492.3:c.325_327delTATinsG, NM_000492.3:c.3266G>A, NM_000492.3:c.3276C>A, NM_000492.3:c.3276C>G, NM_000492.3:c.328G>C, NM_000492.3:c.328G>T, NM_000492.3:c.3302T>A, NM_000492.3:c.3310G>T, NM_000492.3:c.349C>T, NM_000492.3:c.350G>T, NM_000492.3:c.3528delC, NM_000492.3:c.3533_3536delCAAC, NM_000492.3:c.3587C>G, NM_000492.3:c.358G>A, NM_000492.3:c.3611G>A, NM_000492.3:c.3612G>A, NM_000492.3:c.3659delC, NM_000492.3:c.366T>A, NM_000492.3:c.3731G>A, NM_000492.3:c.3744delA, NM_000492.3:c.3752G>A, NM_000492.3:c.3761T>G, NM_000492.3:c.3764C>A, NM_000492.3:c.3773_3774insT, NM_000492.3:c.3846G>A, NM_000492.3:c.3909C>G, NM_000492.3:c.3937C>T, NM_000492.3:c.4056G>T, NM_000492.3:c.4077_4080delinsAA, NM_000492.3:c.4077_4080delTGTTinsAA, NM_000492.3:c.4251delA, NM_000492.3:c.4333G>A, NM_000492.3:c.4426C>T, NM_000492.3:c.442delA, NM_000492.3:c.445G>A, NM_000492.3:c.445G>T, NM_000492.3:c.446G>T, NM_000492.3:c.531delT, NM_000492.3:c.532G>A, NM_000492.3:c.571T>G, NM_000492.3:c.577G>T, NM_000492.3:c.579+1G>T, NM_000492.3:c.579+3A>G, NM_000492.3:c.579+5G>A, NM_000492.3:c.592G>A, NM_000492.3:c.595C>T, NM_000492.3:c.613C>T, NM_000492.3:c.617T>G, NM_000492.3:c.650A>G, NM_000492.3:c.658C>T, NM_000492.3:c.708delT, NM_000492.3:c.722_743delGGAGAATGATGATGAAGTACAG, NM_000492.3:c.803delA, NM_000492.3:c.935_937delTCT, NM_000492.3:c.988G>T, NM_000492.3:c.1046C>T, NM_000492.3:c.14C>T, NM_000492.3:c.1558G>A, NM_000492.3:c.1585-1G>A, NM_000492.3:c.1684G>C, NM_000492.3:c.1766+1G>A, NM_000492.3:c.1397C>G, NM_000492.3:c.1399C>T, NM_000492.3:c.1400T>C, NM_000492.3:c.3380G>A, NM_000492.3:c.3409A>G, NM_000492.3:c.3868C>A, NM_000492.3:c.489+1G>T, NM_000492.3:c.2537G>A, NM_000492.3:c.2125C>T, NM_000492.3:c.2128A>T, NM_000492.3:c.2175_2176insA, NM_000492.3:c.2052dupA, NM_000492.3:c.2195T>G, NM_000492.3:c.2215delG, NM_000492.3:c.223C>T, NM_000492.3:c.2175dupA, NM_000492.3:c.221G>A, NM_000492.3:c.2930C>T, NM_000492.3:c.3205G>A, NM_000492.3:c.2249C>T |
| CHST6 | Macular corneal dystrophy | NM_021615.4 | NM_021615.4:c.820G>T, NM_021615.4:c.853delC, NM_021615.4:c.993G>T, NM_021615.4:c.327_328delCT, NM_021615.4:c.392C>A |
| CLCN1 | Myotonia congenita, autosomal recessive | NM_000083.2 | NM_000083.2:c.1453A>G, NM_000083.2:c.409T>G, NM_000083.2:c.568G>A, NM_000083.2:c.899G>A, NM_000083.2:c.1169G>A, NM_000083.2:c.1238T>G, NM_000083.2:c.871G>A, NM_000083.2:c.180+3A>T, NM_000083.2:c.225dupC, NM_000083.2:c.501C>G, NM_000083.2:c.2680C>T |
| CLDN19 | Hypomagnesemia type 5, renal failure with severe ocular abnormalities | NM_148960.2 | NM_148960.2:c.269T>C, NM_148960.2:c.425_437delCCCTGGTGACCCA, NM_148960.2:c.59G>A, NM_148960.2:c.169C>G, NM_148960.2:c.599G>A |
| CLRN1 | Retinitis pigmentosa type 61 | NM_174878.2 | NM_174878.2:c.92C>T |
| CLRN1 | Usher syndrome type 3A | NM_174878.2 | NM_174878.2:c.591_592insT, NM_174878.2:c.630_631insT, NM_174878.2:c.118T>G, NM_174878.2:c.433+1061A>T, NM_174878.2:c.189C>A, NM_174878.2:c.144T>G |
| CNGA1 | Retinitis pigmentosa type 49 | NM_000087.3 | NM_000087.3:c.1747C>T, NM_000087.3:c.1540C>T, NM_000087.3:c.2071T>C, NM_000087.3:c.1927C>T, NM_000087.3:c.1271G>A, NM_000087.3:c.1001G>A, NM_000087.3:c.959C>T, NM_000087.3:c.97_98insA, NM_000087.3:c.449+2T>C, NM_000087.3:c.1972delA, NM_000087.3:c.238G>T, NM_000087.3:c.794G>A, NM_000087.3:c.238G>A |
| CNGB1 | Retinitis pigmentosa tipo 45 | NM_001297.4 | NM_001297.4:c.3150delG, NM_001297.4:c.2762_2765delACGA, NM_001297.4:c.2957A>T, NM_001297.4:c.413-1G>A, NM_001297.4:c.218-2A>G, NM_001297.4:c.2492+2T>G, NM_001297.4:c.3462+1G>A, NM_001297.4:c.2653delG, NM_001297.4:c.3425delT, NM_001297.4:c.1122-2A>T, NM_001297.4:c.1958-1G>A, NM_001297.4:c.952C>T |
| CNGB3 | Achromatopsia type 3 | NM_019098.4 | NM_019098.4:c.2011G>T, NM_019098.4:c.1063C>T, NM_019098.4:c.1208G>A, NM_019098.4:c.1672G>T, NM_019098.4:c.819_826delCAGACTCC, NM_019098.4:c.1148delC, NM_019098.4:c.886_890delACTTC, NM_019098.4:c.2048_2049delCA, NM_019098.4:c.446_447insT, NM_019098.4:c.893_897delCAAAA, NM_019098.4:c.887_896delCTTCTACAAA |
| CNGB3 | Macular degeneration, juvenile | NM_019098.4 | NM_019098.4:c.1405T>G |
| COL17A1 | Epidermolysis bullosa, junctional, non-Herlitz type | NM_000494.3 | NM_000494.3:c.1898G>A, NM_000494.3:c.3827_3828insC, NM_000494.3:c.2228-3_2235delCAGGTCCTGCTinsTTG, NM_000494.3:c.1706delC, NM_000494.3:c.2336-2A>G, NM_000494.3:c.3897_3900delATCT, NM_000494.3:c.3908G>A, NM_000494.3:c.2336-1G>T, NM_000494.3:c.2965delA, NM_000494.3:c.3043C>T, NM_000494.3:c.3067C>T, NM_000494.3:c.3277+1G>A, NM_000494.3:c.3676C>T, NM_000494.3:c.4319_4320insC, NM_000494.3:c.433C>T, NM_000494.3:c.520_521delAG, NM_000494.3:c.4003_4004delGG, NM_000494.3:c.2551+1G>T, NM_000494.3:c.3800delC, NM_000494.3:c.2564T>G, NM_000494.3:c.2430_2431insCCGA, NM_000494.3:c.2383C>T, NM_000494.3:c.2944_2947+1delGAAGG |
| COL18A1 | Knobloch syndrome type 1 | NM_030582.3 | NM_030582.3:c.3367_3379delCCCCCAGGCCCAC, NM_030582.3:c.3493_3501delGGCCCCCCA, NM_030582.3:c.2797C>T, NM_030582.3:c.995_996insGACGTGAAAGAGGGG, NM_030582.3:c.3502_3511delGGCCCCCCAG, NM_030582.3:c.3618_3618+1delGG, NM_030582.3:c.994_995insGGACGTGAAAGAGGG, NM_030582.3:c.3517_3518delCC, NM_030582.3:c.1535_1536insGACGTGAAAGAGGGG, NM_030582.3:c.2589_2590delAG, NM_030582.3:c.4054_4055delCT, NM_030582.3:c.4463_4464insG |
| COL4A3 | Alport syndrome, autosomal recessive | NM_000091.4 | NM_000091.4:c.345delG, NM_000091.4:c.346C>A, NM_000091.4:c.898G>A, NM_000091.4:c.4421T>C, NM_000091.4:c.2110delC, NM_000091.4:c.343delG, NM_000091.4:c.4420_4424delCTTTT, NM_000091.4:c.5002_*6delAAAAGACACTGAAGCTAA, NM_000091.4:c.2083G>A, NM_000091.4:c.2954G>T, NM_000091.4:c.4484A>G, NM_000091.4:c.4571C>G, NM_000091.4:c.4441C>T |
| COL4A4 | Alport syndrome, autosomal recessive | NM_000092.4 | NM_000092.4:c.3713C>A, NM_000092.4:c.4129C>T, NM_000092.4:c.4923C>A, NM_000092.4:c.3601G>A, NM_000092.4:c.2312delG, NM_000092.4:c.71+1G>A |
| COL7A1 | Epidermolysis bullosa dystrophica, Hallopeau-Siemens type | NM_000094.3 | NM_000094.3:c.4039G>C, NM_000094.3:c.425A>G, NM_000094.3:c.336C>G, NM_000094.3:c.3809C>T, NM_000094.3:c.4119+1G>T, NM_000094.3:c.6205C>T, NM_000094.3:c.6527_6528insC, NM_000094.3:c.6573+1G>T, NM_000094.3:c.6187C>T, NM_000094.3:c.6752G>A, NM_000094.3:c.6859G>A, NM_000094.3:c.6946G>A, NM_000094.3:c.6670G>T, NM_000094.3:c.1907G>T, NM_000094.3:c.2471_2472insG, NM_000094.3:c.7440+4delC, NM_000094.3:c.7912G>T, NM_000094.3:c.7930-1G>C, NM_000094.3:c.7957G>A, NM_000094.3:c.8245G>A, NM_000094.3:c.8371C>T, NM_000094.3:c.8393T>A, NM_000094.3:c.8440C>T, NM_000094.3:c.8479C>T, NM_000094.3:c.8524_8527+10delGAAGGTGAGGACAG, NM_000094.3:c.887delG, NM_000094.3:c.933C>A, NM_000094.3:c.238G>T, NM_000094.3:c.3831+1G>T, NM_000094.3:c.4373C>T, NM_000094.3:c.6091G>A, NM_000094.3:c.4888C>T, NM_000094.3:c.5052+1G>A, NM_000094.3:c.5096C>T, NM_000094.3:c.4783G>C, NM_000094.3:c.5443G>C, NM_000094.3:c.5532+1G>A, NM_000094.3:c.5821-1G>A, NM_000094.3:c.5287C>T, NM_000094.3:c.706C>T, NM_000094.3:c.7345-1G>A, NM_000094.3:c.592G>A, NM_000094.3:c.7411C>T |
| COQ2 | Primary coenzyme Q10 deficiency type 1 | NM_015697.7 | NM_015697.7:c.683A>G, NM_015697.7:c.1197delT, NM_015697.7:c.590G>A, NM_015697.7:c.723delT, NM_015697.7:c.890A>G |
| CPT2 | Carnitine palmitoyltransferase deficiency, type 2 | NM_000098.2 | NM_000098.2:c.1239_1240delGA, NM_000098.2:c.1369A>T, NM_000098.2:c.1237C>T, NM_000098.2:c.680C>T, NM_000098.2:c.1437C>G, NM_000098.2:c.149C>A, NM_000098.2:c.1784delC, NM_000098.2:c.886C>T, NM_000098.2:c.1763C>G, NM_000098.2:c.359A>G, NM_000098.2:c.370C>T, NM_000098.2:c.1883A>C, NM_000098.2:c.1891C>T, NM_000098.2:c.1148T>A, NM_000098.2:c.638A>G, NM_000098.2:c.725_726delAC, NM_000098.2:c.452G>A, NM_000098.2:c.338C>T, NM_000098.2:c.481C>T, NM_000098.2:c.464dupT, NM_000098.2:c.520G>A |
| CRB1 | Leber congenital amaurosis type 8 | NM_201253.2 | NM_201253.2:c.3299T>G, NM_201253.2:c.3383delT, NM_201253.2:c.3419T>A, NM_201253.2:c.3094G>A, NM_201253.2:c.936T>G, NM_201253.2:c.493_501delGATGGAATT, NM_201253.2:c.3997G>T, NM_201253.2:c.498_506delAATTGATGG, NM_201253.2:c.2688T>A, NM_201253.2:c.613_619delATAGGAA, NM_201253.2:c.2401A>T, NM_201253.2:c.610_616delGAAATAG |
| CRB1 | Pigmented paravenous chorioretinal atrophy | NM_201253.2 | NM_201253.2:c.484G>A |
| CRB1 | Retinitis pigmentosa type 12 | NM_201253.2 | NM_201253.2:c.3053_3054insTTATA, NM_201253.2:c.3122T>C, NM_201253.2:c.2416G>T, NM_201253.2:c.2843G>A, NM_201253.2:c.3299T>C, NM_201253.2:c.2983G>T, NM_201253.2:c.2290C>T |
| CRX | Leber congenital amaurosis type 7 | NM_000554.4 | NM_000554.4:c.425A>G, NM_000554.4:c.196G>A, NM_000554.4:c.898T>C |
| CTNS | Cystinosis, ocular nonnephropathic | NM_004937.2 | NM_004937.2:c.589G>A, NM_004937.2:c.853-3C>G |
| CTNS | Nephropathic cystinosis | NM_004937.2 | NM_004937.2:c.416C>T, NM_004937.2:c.414G>A, NM_004937.2:c.124G>A, NM_004937.2:c.357_360delCAGC, NM_004937.2:c.397_398delAT, NM_004937.2:c.1015G>A, NM_004937.2:c.646dupA, NM_004937.2:c.283G>T, NM_004937.2:c.329G>T, NM_004937.2:c.506G>A |
| CTSK | Pycnodysostosis | NM_000396.3 | NM_000396.3:c.236G>A, NM_000396.3:c.154A>T, NM_000396.3:c.436G>C, NM_000396.3:c.926T>C, NM_000396.3:c.721C>T |
| CYP4V2 | Bietti crystalline corneoretinal dystrophy | NM_207352.3 | NM_207352.3:c.1523G>A, NM_207352.3:c.130T>A, NM_207352.3:c.327+1G>A, NM_207352.3:c.332T>C |
| CYP7B1 | Congenital bile acid synthesis defect type 3 | NM_004820.3 | NM_004820.3:c.1162C>T |
| CYP7B1 | Spastic paraplegia type 5A, autosomal recessive | NM_004820.3 | NM_004820.3:c.1460_1461insT, NM_004820.3:c.321_324delACAA, NM_004820.3:c.825T>A, NM_004820.3:c.889A>G, NM_004820.3:c.1456C>T, NM_004820.3:c.187C>T |
| D2HGDH | D-2-Hydroxyglutaric aciduria | NM_152783.4 | NM_152783.4:c.1315A>G, NM_152783.4:c.1276G>A, NM_152783.4:c.440T>G, NM_152783.4:c.1333_1334delAC, NM_152783.4:c.1123G>T, NM_152783.4:c.1331T>C |
| DBT | Maple syrup urine disease type 2 | NM_001918.3 | NM_001918.3:c.670G>T, NM_001918.3:c.827T>G, NM_001918.3:c.294C>G, NM_001918.3:c.581C>G, NM_001918.3:c.772+1G>A, NM_001918.3:c.272_275delCAGT, NM_001918.3:c.1281+1G>A, NM_001918.3:c.871C>T, NM_001918.3:c.901C>T, NM_001918.3:c.939G>C, NM_001918.3:c.126T>G |
| DCLRE1C | Omenn syndrome | NM_001033855.2 | NM_001033855.2:c.2T>C |
| DCLRE1C | Severe combined immunodeficiency due to DCLRE1C deficiency | NM_001033855.2 | NM_001033855.2:c.1558_1559insA, NM_001033855.2:c.597C>A, NM_001033855.2:c.780+1delG, NM_001033855.2:c.1639G>T, NM_001033855.2:c.1903_1904insA, NM_001033855.2:c.457G>A, NM_001033855.2:c.1559_1560insA |
| DFNB31 | Deafness type 31, autosomal recessive | NM_015404.3 | NM_015404.3:c.1135C>T, NM_015404.3:c.817C>T |
| DGUOK | Mitochondrial DNA depletion syndrome type 3 | NM_080916.2 | NM_080916.2:c.137A>G, NM_080916.2:c.707+2T>G, NM_080916.2:c.763G>T, NM_080916.2:c.425G>A, NM_080916.2:c.313C>T, NM_080916.2:c.494A>T |
| DHCR7 | Smith-Lemli-Opitz syndrome | NM_001360.2 | NM_001360.2:c.1055G>A, NM_001360.2:c.1210C>T, NM_001360.2:c.1054C>T, NM_001360.2:c.461C>G, NM_001360.2:c.151C>T, NM_001360.2:c.1031G>A, NM_001360.2:c.453G>A, NM_001360.2:c.506C>T, NM_001360.2:c.356A>T, NM_001360.2:c.1228G>A, NM_001360.2:c.1A>G, NM_001360.2:c.976G>T, NM_001360.2:c.964-1G>C, NM_001360.2:c.682C>T, NM_001360.2:c.452G>A, NM_001360.2:c.1337G>A, NM_001360.2:c.1342G>A, NM_001360.2:c.730G>A, NM_001360.2:c.292C>T, NM_001360.2:c.904T>C, NM_001360.2:c.907G>A, NM_001360.2:c.841G>A, NM_001360.2:c.744G>T, NM_001360.2:c.724C>T, NM_001360.2:c.725G>A, NM_001360.2:c.866C>T, NM_001360.2:c.278C>T, NM_001360.2:c.839A>G, NM_001360.2:c.832-1G>C |
| DPYD | Dihydropyrimidine dehydrogenase deficiency | NM_000110.3 | NM_000110.3:c.775A>G, NM_000110.3:c.1679T>G, NM_000110.3:c.299_302delTCAT, NM_000110.3:c.703C>T, NM_000110.3:c.1109_1110delTA, NM_000110.3:c.1905+1G>A, NM_000110.3:c.257C>T |
| DSP | Cardiomyopathy, arrhythmogenic | NM_004415.2 | NM_004415.2:c.7000C>T, NM_004415.2:c.88G>A, NM_004415.2:c.6370_6371delCT, NM_004415.2:c.7180_7181delAG, NM_004415.2:c.643G>A, NM_004415.2:c.3098delA, NM_004415.2:c.8188C>T |
| DSP | Cardiomyopathy, dilated, with woolly hair and keratoderma | NM_004415.2 | NM_004415.2:c.5513G>A |
| DSP | Lethal acantholytic epidermolysis bullosa | NM_004415.2 | NM_004415.2:c.5800C>T |
| DYSF | Dysferlinopathy | NM_003494.3 | NM_003494.3:c.1398-2A>G, NM_003494.3:c.1392dupA, NM_003494.3:c.1398-1G>A, NM_003494.3:c.5266C>T, NM_003494.3:c.1620delA, NM_003494.3:c.1481-1G>A, NM_003494.3:c.3041A>G, NM_003494.3:c.3985C>G, NM_003494.3:c.4090C>T, NM_003494.3:c.5713C>T, NM_003494.3:c.1053+1G>A, NM_003494.3:c.200_201delTGinsAT, NM_003494.3:c.2869C>T, NM_003494.3:c.2870_2874delAGACC, NM_003494.3:c.458-390C>T, NM_003494.3:c.757C>T, NM_003494.3:c.3065G>A, NM_003494.3:c.393_394delCC, NM_003494.3:c.3859A>T, NM_003494.3:c.5429G>A, NM_003494.3:c.3130C>T, NM_003494.3:c.3444_3445delTGinsAA, NM_003494.3:c.1638+2T>A, NM_003494.3:c.4108_4109delGT, NM_003494.3:c.3641delC, NM_003494.3:c.1368C>A, NM_003494.3:c.4872_4876delGCCCGinsCCCC, NM_003494.3:c.5341-2A>C, NM_003494.3:c.509C>A, NM_003494.3:c.5836_5839delCAGC, NM_003494.3:c.5644C>T, NM_003494.3:c.1861G>C, NM_003494.3:c.5429+1G>T, NM_003494.3:c.3957delC, NM_003494.3:c.5998C>T, NM_003494.3:c.3724C>T, NM_003494.3:c.5525+1G>A, NM_003494.3:c.3477C>A, NM_003494.3:c.3708delA, NM_003494.3:c.5992G>T, NM_003494.3:c.3113G>C, NM_003494.3:c.1216T>C, NM_003494.3:c.3903delG |
| DYSF | Miyoshi myopathy | NM_003494.3 | NM_003494.3:c.1555G>A, NM_003494.3:c.5509G>A, NM_003494.3:c.5077C>T, NM_003494.3:c.5698_5699delAG, NM_003494.3:c.3892A>G, NM_003494.3:c.286A>C, NM_003494.3:c.1120G>C, NM_003494.3:c.1284+2T>C, NM_003494.3:c.5497G>T, NM_003494.3:c.3478C>T, NM_003494.3:c.2997G>T, NM_003494.3:c.3121C>T, NM_003494.3:c.1813C>T, NM_003494.3:c.3181_3182insAGGCGG, NM_003494.3:c.937+1G>A, NM_003494.3:c.3158T>G, NM_003494.3:c.1276G>A, NM_003494.3:c.701G>A, NM_003494.3:c.610C>T, NM_003494.3:c.5594delG, NM_003494.3:c.3112C>T, NM_003494.3:c.4199C>A, NM_003494.3:c.5999G>A, NM_003494.3:c.4756C>T, NM_003494.3:c.6124C>T, NM_003494.3:c.2966C>T, NM_003494.3:c.663+1G>C, NM_003494.3:c.3175-2A>T, NM_003494.3:c.895G>T, NM_003494.3:c.4985C>T, NM_003494.3:c.6203C>T |
| DYSF | Muscular dystrophy, limb girdle type 2B | NM_003494.3 | NM_003494.3:c.5979dupA, NM_003494.3:c.565C>G, NM_003494.3:c.1663C>T, NM_003494.3:c.1873G>T, NM_003494.3:c.1834C>T, NM_003494.3:c.5201A>G, NM_003494.3:c.895G>A, NM_003494.3:c.3805G>T, NM_003494.3:c.4003G>A, NM_003494.3:c.4253G>A |
| EDA | Hypohidrotic ectodermal dysplasia, X-linked | NM_001399.4 | NM_001399.4:c.206G>T, NM_001399.4:c.463C>T, NM_001399.4:c.187G>A, NM_001399.4:c.573_574insT, NM_001399.4:c.466C>T, NM_001399.4:c.826C>T, NM_001399.4:c.183C>G, NM_001399.4:c.181T>C, NM_001399.4:c.467G>A, NM_001399.4:c.671G>C, NM_001399.4:c.1045G>A |
| ENO3 | Glycogen storage disease type 13 | NM_053013.3 | NM_053013.3:c.667+1G>T, NM_053013.3:c.1121G>A, NM_053013.3:c.953delA, NM_053013.3:c.692_707dupTCCAGGCGGCTGGTTA, NM_053013.3:c.467G>A, NM_053013.3:c.1303T>C |
| ERCC2 | Trichothiodystrophy | NM_000400.3 | NM_000400.3:c.1972C>T |
| ERCC2 | Xeroderma pigmentosum complementation group D | NM_000400.3 | NM_000400.3:c.1308-1G>A, NM_000400.3:c.1454T>C, NM_000400.3:c.1621A>C, NM_000400.3:c.1703_1704delTT, NM_000400.3:c.1381C>G, NM_000400.3:c.719-1G>A, NM_000400.3:c.2230_2233dupCTAG, NM_000400.3:c.183+2T>A, NM_000400.3:c.567G>A, NM_000400.3:c.1354C>T, NM_000400.3:c.2047C>T, NM_000400.3:c.1304T>G, NM_000400.3:c.2176C>T, NM_000400.3:c.950-2A>G, NM_000400.3:c.949+1G>A |
| ERCC4 | Xeroderma pigmentosum complementation group F | NM_005236.2 | NM_005236.2:c.49G>T, NM_005236.2:c.1467_1468insA, NM_005236.2:c.2281_2284delTTTG, NM_005236.2:c.2T>C, NM_005236.2:c.538_539delAG, NM_005236.2:c.706T>C, NM_005236.2:c.2395C>T |
| ERCC5 | Xeroderma pigmentosum complementation group G | NM_000123.3 | NM_000123.3:c.2620G>A, NM_000123.3:c.463_464insA, NM_000123.3:c.526C>T, NM_000123.3:c.88+2T>C, NM_000123.3:c.2144dupA, NM_000123.3:c.2375C>T, NM_000123.3:c.381-2A>G, NM_000123.3:c.2573T>C, NM_000123.3:c.406C>T, NM_000123.3:c.215C>A, NM_000123.3:c.787C>T, NM_000123.3:c.2751delA |
| ERCC6 | Cerebrooculofacioskeletal syndrome tipo 1 | NM_000124.3 | NM_000124.3:c.2047C>T |
| ERCC6 | Cockayne syndrome type B | NM_000124.3 | NM_000124.3:c.207_208insG, NM_000124.3:c.2203C>T, NM_000124.3:c.1357C>T, NM_000124.3:c.48_49delCT, NM_000124.3:c.3592_3593insGA, NM_000124.3:c.422+1G>A, NM_000124.3:c.1550G>A, NM_000124.3:c.3284C>G, NM_000124.3:c.2587C>T, NM_000124.3:c.3862C>T |
| EYS | Retinitis pigmentosa type 25 | NM_001142800.1 | NM_001142800.1:c.5044G>T, NM_001142800.1:c.9036delT, NM_001142800.1:c.490C>T, NM_001142800.1:c.5928-2A>G, NM_001142800.1:c.571dupA, NM_001142800.1:c.4597_4613delTCAAGCAACCAGAGACT, NM_001142800.1:c.7822C>T, NM_001142800.1:c.5857G>T, NM_001142800.1:c.6170delA, NM_001142800.1:c.8569G>T, NM_001142800.1:c.232delT, NM_001142800.1:c.6102_6103insT, NM_001142800.1:c.8834G>A, NM_001142800.1:c.1211_1212insA, NM_001142800.1:c.4350_4356delTATAGCT, NM_001142800.1:c.4469_4470insAGCCCCTC, NM_001142800.1:c.8648_8655delCATGCAGA, NM_001142800.1:c.4120C>T, NM_001142800.1:c.863-4_863-3insT, NM_001142800.1:c.8629_8632dupACAG, NM_001142800.1:c.9299_9302delCTCA, NM_001142800.1:c.103C>T, NM_001142800.1:c.2826_2827delAT, NM_001142800.1:c.4045C>T, NM_001142800.1:c.5757_5758insT, NM_001142800.1:c.8408dupA, NM_001142800.1:c.7095T>G, NM_001142800.1:c.3329C>G, NM_001142800.1:c.9405T>A |
| F11 | Factor 11 deficiency | NM_000128.3 | NM_000128.3:c.1613C>T, NM_000128.3:c.166T>C, NM_000128.3:c.403G>T, NM_000128.3:c.731A>G, NM_000128.3:c.809A>T, NM_000128.3:c.1693G>A, NM_000128.3:c.1211C>A, NM_000128.3:c.901T>C, NM_000128.3:c.595+3A>G, NM_000128.3:c.438C>A |
| F5 | Factor 5 deficiency | NM_000130.4 | NM_000130.4:c.4876delA, NM_000130.4:c.439G>T, NM_000130.4:c.6419G>A, NM_000130.4:c.2401C>T, NM_000130.4:c.5521G>A, NM_000130.4:c.1083G>A, NM_000130.4:c.5189A>G, NM_000130.4:c.3799delC, NM_000130.4:c.6304C>T |
| F5 | Thrombosis | NM_000130.4 | NM_000130.4:c.1000A>G |
| F9 | Hemophilia B | NM_000133.3 | NM_000133.3:c.1150C>T, NM_000133.3:c.52T>C, NM_000133.3:c.1031T>C, NM_000133.3:c.82T>C, NM_000133.3:c.1136G>A, NM_000133.3:c.79G>A, NM_000133.3:c.19A>T, NM_000133.3:c.80A>T |
| FAH | Tyrosinemia type 1 | NM_000137.2 | NM_000137.2:c.1141A>G, NM_000137.2:c.1069G>T, NM_000137.2:c.1090G>T, NM_000137.2:c.401C>A, NM_000137.2:c.456G>A, NM_000137.2:c.192G>T, NM_000137.2:c.607-6T>G, NM_000137.2:c.707-1G>A, NM_000137.2:c.939delC, NM_000137.2:c.103G>A, NM_000137.2:c.982C>T, NM_000137.2:c.837+1G>A, NM_000137.2:c.1009G>A, NM_000137.2:c.47A>T, NM_000137.2:c.554-1G>T, NM_000137.2:c.1027G>T, NM_000137.2:c.1062+5G>A, NM_000137.2:c.786G>A, NM_000137.2:c.1021C>T, NM_000137.2:c.782C>T |
| FANCA | Fanconi anemia, complementation group A | NM_000135.2 | NM_000135.2:c.3788_3790delTCT, NM_000135.2:c.2303T>C, NM_000135.2:c.3558_3559insG, NM_000135.2:c.4130C>G, NM_000135.2:c.233_236delTTGA, NM_000135.2:c.3763G>T, NM_000135.2:c.1115_1118delTTGG, NM_000135.2:c.131_132insA |
| FANCC | Fanconi anemia, complementation group C | NM_000136.2 | NM_000136.2:c.1642C>T, NM_000136.2:c.37C>T, NM_000136.2:c.996+1G>T, NM_000136.2:c.67delG, NM_000136.2:c.416G>A, NM_000136.2:c.1015delA, NM_000136.2:c.1487T>G, NM_000136.2:c.1103_1104delTG |
| FANCD2 | Fanconi anemia, complementation group D2 | NM_033084.3 | NM_033084.3:c.1278+1delG, NM_033084.3:c.2152C>T, NM_033084.3:c.2494+2T>C, NM_033084.3:c.958C>T, NM_033084.3:c.2444G>A, NM_033084.3:c.782A>T, NM_033084.3:c.904C>T |
| FANCG | Fanconi anemia, complementation group G | NM_004629.1 | NM_004629.1:c.1795_1804delTGGATCCGTC, NM_004629.1:c.313G>T, NM_004629.1:c.637_643delTACCGCC, NM_004629.1:c.1480+1G>C, NM_004629.1:c.1852_1853delAA, NM_004629.1:c.510+1G>A, NM_004629.1:c.1077-2A>G, NM_004629.1:c.908_909insCT |
| FANCI | Fanconi anemia, complementation group I | NM_001113378.1 | NM_001113378.1:c.3816+1G>A, NM_001113378.1:c.52C>T, NM_001113378.1:c.989_991delTAA, NM_001113378.1:c.2097C>G, NM_001113378.1:c.3466G>C, NM_001113378.1:c.2292-1G>A, NM_001113378.1:c.3492delG, NM_001113378.1:c.3853C>T, NM_001113378.1:c.3626_3627delGT, NM_001113378.1:c.3854G>A |
| FANCL | Fanconi anemia, complementation group L | NM_018062.3 | NM_018062.3:c.1051_1052delAG, NM_018062.3:c.1066_1067delAG, NM_018062.3:c.1096_1099dupATTA, NM_018062.3:c.1099_1100insATTA |
| FANCM | Fanconi anemia, complementation group M | NM_020937.2 | NM_020937.2:c.2171C>A, NM_020937.2:c.5766_5769delGACT, NM_020937.2:c.5101C>T, NM_020937.2:c.1072G>T, NM_020937.2:c.2996_2997insC, NM_020937.2:c.2586_2589delAAAA, NM_020937.2:c.5791C>T, NM_020937.2:c.624_625delAA, NM_020937.2:c.5569G>A, NM_020937.2:c.5764_5767delCTGA |
| FGB | Congenital afibrinogenemia | NM_005141.4 | NM_005141.4:c.1289G>A, NM_005141.4:c.1148T>G, NM_005141.4:c.794C>T |
| FIG4 | Charcot-Marie-Tooth disease type 4J | NM_014845.5 | NM_014845.5:c.592C>T, NM_014845.5:c.831_838delTAAATTTG, NM_014845.5:c.547C>T, NM_014845.5:c.501C>G, NM_014845.5:c.737G>A, NM_014845.5:c.122T>C, NM_014845.5:c.2296_2297insG |
| FIG4 | Yunis-Varon syndrome | NM_014845.5 | NM_014845.5:c.311G>A |
| FKRP | Congenital muscular dystrophy type 5B | NM_024301.4 | NM_024301.4:c.235G>A, NM_024301.4:c.1343C>T, NM_024301.4:c.1387A>G, NM_024301.4:c.1154C>A |
| FKRP | Limb-girdle muscular dystrophy type 2I, autosomal recessive | NM_024301.4 | NM_024301.4:c.160C>T |
| FMR1 | Fragile X syndrome | - | (CGG)n pre-mutated allele (Detection by PCR and TP-PCR) |
| FRAS1 | Fraser syndrome | NM_025074.6 | NM_025074.6:c.7813C>T, NM_025074.6:c.832_835delTGTG, NM_025074.6:c.11159_11166delAGCTGGAG, NM_025074.6:c.776T>G, NM_025074.6:c.6991_6992insGG, NM_025074.6:c.6433C>T, NM_025074.6:c.3799C>T, NM_025074.6:c.1071+1_1071+4delGTGA, NM_025074.6:c.4969+1_4969+2insTAGC, NM_025074.6:c.5605_5606insT |
| G6PC | Glycogen storage disease type 1a | NM_000151.3 | NM_000151.3:c.508C>T, NM_000151.3:c.551G>A, NM_000151.3:c.447-1G>A, NM_000151.3:c.1039C>T, NM_000151.3:c.562G>C, NM_000151.3:c.380_381insTA, NM_000151.3:c.497T>G, NM_000151.3:c.247C>T, NM_000151.3:c.113A>T, NM_000151.3:c.229T>C, NM_000151.3:c.230+1G>C, NM_000151.3:c.47C>G, NM_000151.3:c.883C>T, NM_000151.3:c.370G>A, NM_000151.3:c.626A>G, NM_000151.3:c.248G>A |
| GAA | Glycogen storage disease type 2 | NM_000152.3 | NM_000152.3:c.118C>T, NM_000152.3:c.1316T>A, NM_000152.3:c.1799G>A, NM_000152.3:c.1827_1828insA, NM_000152.3:c.1846_1847insA, NM_000152.3:c.1115A>T, NM_000152.3:c.1552-3C>G, NM_000152.3:c.1445C>T, NM_000152.3:c.2238G>C, NM_000152.3:c.1327-2A>G, NM_000152.3:c.1650dupG, NM_000152.3:c.2238G>A, NM_000152.3:c.307T>G, NM_000152.3:c.230_240delCAGTGCCCACA, NM_000152.3:c.2512C>T, NM_000152.3:c.1431delT, NM_000152.3:c.1561G>A, NM_000152.3:c.1465G>A, NM_000152.3:c.1548G>A, NM_000152.3:c.546G>A, NM_000152.3:c.1064T>C, NM_000152.3:c.877G>A, NM_000152.3:c.925G>A, NM_000152.3:c.768_769insT, NM_000152.3:c.2560C>T, NM_000152.3:c.655G>A, NM_000152.3:c.1408_1410delAAC, NM_000152.3:c.953T>C, NM_000152.3:c.1933G>T, NM_000152.3:c.1935C>A, NM_000152.3:c.1585_1586delTCinsGT, NM_000152.3:c.1927G>A, NM_000152.3:c.2041-1G>A, NM_000152.3:c.2066_2070dupAGCCG, NM_000152.3:c.2105G>T, NM_000152.3:c.2237G>A, NM_000152.3:c.525delT, NM_000152.3:c.546+1_546+4delGTGG, NM_000152.3:c.2544delC, NM_000152.3:c.1912G>T, NM_000152.3:c.1634C>T, NM_000152.3:c.710C>T, NM_000152.3:c.2015G>A, NM_000152.3:c.546G>C, NM_000152.3:c.2012T>G, NM_000152.3:c.853C>T, NM_000152.3:c.697delA |
| GALC | Krabbe disease | NM_000153.3 | NM_000153.3:c.1591C>T, NM_000153.3:c.1161+2T>G, NM_000153.3:c.1586C>T, NM_000153.3:c.1592G>A, NM_000153.3:c.1489+1_1489+2delGT, NM_000153.3:c.582+1G>A, NM_000153.3:c.388G>A, NM_000153.3:c.430delA, NM_000153.3:c.1695delT, NM_000153.3:c.1472delA, NM_000153.3:c.1004A>G, NM_000153.3:c.1153G>T, NM_000153.3:c.658C>T, NM_000153.3:c.1543G>A, NM_000153.3:c.332G>A, NM_000153.3:c.334A>G, NM_000153.3:c.205C>T, NM_000153.3:c.1796T>G, NM_000153.3:c.1814dupA, NM_000153.3:c.1700A>C, NM_000153.3:c.1723_1724insT, NM_000153.3:c.1964delC, NM_000153.3:c.236G>A, NM_000153.3:c.1488_1489+2delTGGT, NM_000153.3:c.453G>A, NM_000153.3:c.1488_1489delTG, NM_000153.3:c.628A>T, NM_000153.3:c.655C>T, NM_000153.3:c.953C>G, NM_000153.3:c.2056T>C |
| GALT | Galactosemia | NM_000155.3 | NM_000155.3:c.130G>A, NM_000155.3:c.132delG, NM_000155.3:c.118G>T, NM_000155.3:c.265T>G, NM_000155.3:c.289_291delAAC, NM_000155.3:c.1138T>C, NM_000155.3:c.113A>C, NM_000155.3:c.152G>A, NM_000155.3:c.1048delA, NM_000155.3:c.290A>G, NM_000155.3:c.221T>C, NM_000155.3:c.253-2A>G, NM_000155.3:c.425T>A, NM_000155.3:c.428C>T, NM_000155.3:c.442C>T, NM_000155.3:c.143G>C, NM_000155.3:c.443G>A, NM_000155.3:c.158G>A, NM_000155.3:c.18delC, NM_000155.3:c.199C>T, NM_000155.3:c.200G>A, NM_000155.3:c.203A>C, NM_000155.3:c.218_219delCT, NM_000155.3:c.512T>C, NM_000155.3:c.547C>A, NM_000155.3:c.552C>A, NM_000155.3:c.563A>G, NM_000155.3:c.565_578delGTATGGGCCAGCAG, NM_000155.3:c.568T>C, NM_000155.3:c.580T>C, NM_000155.3:c.584T>C, NM_000155.3:c.598delC, NM_000155.3:c.601C>T, NM_000155.3:c.602G>A, NM_000155.3:c.1030C>A, NM_000155.3:c.510C>A, NM_000155.3:c.617A>G, NM_000155.3:c.619C>T, NM_000155.3:c.626A>G, NM_000155.3:c.634C>T, NM_000155.3:c.688-2A>C, NM_000155.3:c.692G>A, NM_000155.3:c.292G>A, NM_000155.3:c.329-2A>C, NM_000155.3:c.367C>T, NM_000155.3:c.377+7A>C, NM_000155.3:c.386T>C, NM_000155.3:c.607G>A, NM_000155.3:c.610C>T, NM_000155.3:c.413C>T, NM_000155.3:c.416T>G, NM_000155.3:c.41delinsTT, NM_000155.3:c.904+1G>T, NM_000155.3:c.905-2A>G, NM_000155.3:c.907G>A, NM_000155.3:c.442G>A, NM_000155.3:c.947G>A, NM_000155.3:c.443G>C, NM_000155.3:c.445dupG, NM_000155.3:c.997C>G, NM_000155.3:c.997C>T, NM_000155.3:c.998G>A, NM_000155.3:c.793C>G, NM_000155.3:c.820+13A>G, NM_000155.3:c.1052delC, NM_000155.3:c.844C>G, NM_000155.3:c.855G>T, NM_000155.3:c.719_728delTAGTACTGGT, NM_000155.3:c.772C>T, NM_000155.3:c.939G>A, NM_000155.3:c.71_72insA, NM_000155.3:c.404C>T, NM_000155.3:c.508-1G>C, NM_000155.3:c.775C>T, NM_000155.3:c.400delT, NM_000155.3:c.502_504delGTG, NM_000155.3:c.957C>A, NM_000155.3:c.823C>G, NM_000155.3:c.505C>A, NM_000155.3:c.1006A>T, NM_000155.3:c.985T>C, NM_000155.3:c.790delC, NM_000155.3:c.790_792delinsTAG |
| GAN | Giant axonal neuropathy | NM_022041.3 | NM_022041.3:c.1447C>T, NM_022041.3:c.1456G>A, NM_022041.3:c.1684C>G, NM_022041.3:c.1429C>T, NM_022041.3:c.601C>T, NM_022041.3:c.413G>A, NM_022041.3:c.505G>A, NM_022041.3:c.1268T>C |
| GBA | Gaucher disease | NM_001005741.2 | NM_001005741.2:c.1093G>A, NM_001005741.2:c.1090G>A, NM_001005741.2:c.1043C>T, NM_001005741.2:c.1274dupA, NM_001005741.2:c.1098dupA, NM_001005741.2:c.1085C>T, NM_001005741.2:c.1102C>T, NM_001005741.2:c.1049A>G, NM_001005741.2:c.1240G>T, NM_001005741.2:c.1246G>A, NM_001005741.2:c.1301G>C, NM_001005741.2:c.1088T>C, NM_001005741.2:c.1348T>A, NM_001005741.2:c.1361C>G, NM_001005741.2:c.1342G>C, NM_001005741.2:c.1448T>C, NM_001005741.2:c.1448T>G, NM_001005741.2:c.1504C>T, NM_001005741.2:c.1447_1466delCTGGACGCAGTGGCACTGATinsTG, NM_001005741.2:c.254G>A, NM_001005741.2:c.259C>T, NM_001005741.2:c.1053G>T, NM_001005741.2:c.160G>T, NM_001005741.2:c.431T>G, NM_001005741.2:c.475C>T, NM_001005741.2:c.476G>A, NM_001005741.2:c.481C>T, NM_001005741.2:c.487delG, NM_001005741.2:c.497A>T, NM_001005741.2:c.508C>T, NM_001005741.2:c.1141T>G, NM_001005741.2:c.115+1G>A, NM_001005741.2:c.1171G>C, NM_001005741.2:c.1174C>G, NM_001005741.2:c.354G>C, NM_001005741.2:c.1060G>C, NM_001005741.2:c.1208G>C, NM_001005741.2:c.1228C>G, NM_001005741.2:c.123A>G, NM_001005741.2:c.1240G>C, NM_001005741.2:c.914delC, NM_001005741.2:c.517A>C, NM_001005741.2:c.1295G>T, NM_001005741.2:c.1307T>C, NM_001005741.2:c.1265_1319del, NM_001005741.2:c.1319C>T, NM_001005741.2:c.1309G>T, NM_001005741.2:c.1226A>G, NM_001005741.2:c.407C>A, NM_001005741.2:c.1343A>T, NM_001005741.2:c.84_85insG, NM_001005741.2:c.518C>T, NM_001005741.2:c.1391A>C, NM_001005741.2:c.509G>T, NM_001005741.2:c.1604G>A, NM_001005741.2:c.84dupG, NM_001005741.2:c.535G>C, NM_001005741.2:c.586A>C, NM_001005741.2:c.1297G>T, NM_001005741.2:c.1184C>T, NM_001005741.2:c.1192C>T |
| GBE1 | Glycogen storage disease type 4 | NM_000158.3 | NM_000158.3:c.1571G>A, NM_000158.3:c.1570C>T, NM_000158.3:c.1774G>T, NM_000158.3:c.771T>A, NM_000158.3:c.1543C>T, NM_000158.3:c.1883A>G, NM_000158.3:c.2052+1G>A, NM_000158.3:c.986A>C, NM_000158.3:c.466_470delCGTAT, NM_000158.3:c.1604A>G |
| GBE1 | Polyglucosan body disease, adult | NM_000158.3 | NM_000158.3:c.986A>G |
| GCDH | Glutaric acidemia type 1 | NM_000159.3 | NM_000159.3:c.1093G>A, NM_000159.3:c.1060G>C, NM_000159.3:c.542A>G, NM_000159.3:c.442G>A, NM_000159.3:c.1199dupT, NM_000159.3:c.572T>C, NM_000159.3:c.1060G>A, NM_000159.3:c.1247C>T, NM_000159.3:c.74C>A, NM_000159.3:c.947C>A, NM_000159.3:c.1168G>C, NM_000159.3:c.416C>T, NM_000159.3:c.1198G>A, NM_000159.3:c.636-1G>A, NM_000159.3:c.1204C>T, NM_000159.3:c.1244-2A>C, NM_000159.3:c.751C>T, NM_000159.3:c.1262C>T, NM_000159.3:c.1148G>A, NM_000159.3:c.680G>C, NM_000159.3:c.883T>C, NM_000159.3:c.1015A>G, NM_000159.3:c.764C>T, NM_000159.3:c.271+1G>A, NM_000159.3:c.743C>T, NM_000159.3:c.877G>A, NM_000159.3:c.914C>T, NM_000159.3:c.1002_1003delGA, NM_000159.3:c.383G>A, NM_000159.3:c.769C>T |
| GJB2 | Deafness type 1A, autosomal recessive | NM_004004.5 | NM_004004.5:c.176_191delGCTGCAAGAACGTGTG, NM_004004.5:c.169C>T, NM_004004.5:c.270dupA, NM_004004.5:c.239A>C, NM_004004.5:c.269T>C, NM_004004.5:c.427C>T, NM_004004.5:c.299_300delAT, NM_004004.5:c.250G>T, NM_004004.5:c.230G>A, NM_004004.5:c.516G>A, NM_004004.5:c.439G>A, NM_004004.5:c.465T>A, NM_004004.5:c.229T>C, NM_004004.5:c.241C>G, NM_004004.5:c.235delC, NM_004004.5:c.238C>T, NM_004004.5:c.557C>T, NM_004004.5:c.269_270insT, NM_004004.5:c.617A>G, NM_004004.5:c.231G>A, NM_004004.5:c.310_323delAGGAAGTTCATCAA, NM_004004.5:c.313_326delAAGTTCATCAAGGG, NM_004004.5:c.358_360delGAG, NM_004004.5:c.35delG, NM_004004.5:c.249C>G, NM_004004.5:c.334_335delAA, NM_004004.5:c.402delG, NM_004004.5:c.413G>A, NM_004004.5:c.416G>A, NM_004004.5:c.299A>T, NM_004004.5:c.250G>C, NM_004004.5:c.550C>T, NM_004004.5:c.551G>C, NM_004004.5:c.503A>G, NM_004004.5:c.227T>C, NM_004004.5:c.380G>A, NM_004004.5:c.132G>A, NM_004004.5:c.365A>T, NM_004004.5:c.139G>T |
| GJB3 | Deafness type 1A, autosomal recessive | NM_024009.2 | NM_024009.2:c.529T>G, NM_024009.2:c.580G>A, NM_024009.2:c.94C>T |
| GJB6 | Deafness type 1B, autosomal recessive | NM_006783.4 | NM_006783.4:c.261dupA, NM_006783.4:c.169C>T, NM_006783.4:c.485dupA, NM_006783.4:c.689dupA, NM_006783.4:c.14C>T, NM_006783.4:c.443delC, NM_006783.4:c.383_384delTA, NM_006783.4:c.689_690insA |
| GLB1 | GM1 Gangliosidosis | NM_000404.2 | NM_000404.2:c.1369C>T, NM_000404.2:c.1370G>A, NM_000404.2:c.1452C>G, NM_000404.2:c.176G>A, NM_000404.2:c.276G>A, NM_000404.2:c.1733A>G, NM_000404.2:c.1355dupA, NM_000404.2:c.442C>A, NM_000404.2:c.202C>T, NM_000404.2:c.591_592insT, NM_000404.2:c.622C>T, NM_000404.2:c.1549G>T, NM_000404.2:c.442C>T, NM_000404.2:c.457+2T>C, NM_000404.2:c.947A>G, NM_000404.2:c.438_440delTCT, NM_000404.2:c.601C>T, NM_000404.2:c.602G>A, NM_000404.2:c.1068+1G>T, NM_000404.2:c.1174_1175delCT, NM_000404.2:c.1004C>T, NM_000404.2:c.1051C>T, NM_000404.2:c.171C>G, NM_000404.2:c.1321G>A, NM_000404.2:c.1325G>A, NM_000404.2:c.818G>T, NM_000404.2:c.152T>C, NM_000404.2:c.1456_1466dupGGTGCATATAT, NM_000404.2:c.145C>T, NM_000404.2:c.175C>T, NM_000404.2:c.901G>A, NM_000404.2:c.1646C>T, NM_000404.2:c.1577dupG, NM_000404.2:c.1310A>T |
| GLB1 | Mucopolysaccharidosis type 4B | NM_000404.2 | NM_000404.2:c.1444C>T, NM_000404.2:c.1313G>A, NM_000404.2:c.817T>C, NM_000404.2:c.1445G>A, NM_000404.2:c.1223A>C |
| GLDC | Glycine encephalopathy | NM_000170.2 | NM_000170.2:c.322G>T, NM_000170.2:c.1229G>A, NM_000170.2:c.1545G>C, NM_000170.2:c.1691G>T, NM_000170.2:c.1166C>T, NM_000170.2:c.2113G>A, NM_000170.2:c.2284G>A, NM_000170.2:c.1705G>A, NM_000170.2:c.2216G>A, NM_000170.2:c.2405C>T |
| GLE1 | Lethal arthrogryposis with anterior horn cell disease | NM_001003722.1 | NM_001003722.1:c.2051T>C, NM_001003722.1:c.1412_1413delAG, NM_001003722.1:c.898-2A>G, NM_001003722.1:c.2069_2072delTTCT, NM_001003722.1:c.1807C>T |
| GNE | Distal myopathy Nonaka type | NM_005476.5 | NM_005476.5:c.2116T>C, NM_005476.5:c.2135T>C, NM_005476.5:c.2086G>A, NM_005476.5:c.478C>T, NM_005476.5:c.1844C>G, NM_005476.5:c.737G>A, NM_005476.5:c.385C>T, NM_005476.5:c.1714G>T, NM_005476.5:c.1798G>A, NM_005476.5:c.2086G>T, NM_005476.5:c.787C>T, NM_005476.5:c.2023T>C, NM_005476.5:c.1993G>A, NM_005476.5:c.673G>A, NM_005476.5:c.909T>A, NM_005476.5:c.1727G>A |
| GNPTAB | Mucolipidosis type 2/type 3 | NM_024312.4 | NM_024312.4:c.1931C>T, NM_024312.4:c.1799delC, NM_024312.4:c.3503_3504delTC, NM_024312.4:c.3173C>G, NM_024312.4:c.25C>T, NM_024312.4:c.3663delG, NM_024312.4:c.1906dupA, NM_024312.4:c.2383delG, NM_024312.4:c.732_733delAA, NM_024312.4:c.749dupA, NM_024312.4:c.2896delA, NM_024312.4:c.648_651delAGAA, NM_024312.4:c.3326dupA, NM_024312.4:c.3410T>A, NM_024312.4:c.10A>C, NM_024312.4:c.1000C>T, NM_024312.4:c.1196C>T, NM_024312.4:c.1759C>T, NM_024312.4:c.3565C>T, NM_024312.4:c.616_619delACAG, NM_024312.4:c.99delC, NM_024312.4:c.3598G>A, NM_024312.4:c.3560_3561delAG |
| GPR179 | Night blindness, congenital stationary type 1E | NM_001004334.3 | NM_001004334.3:c.1784+1G>A, NM_001004334.3:c.1368delT, NM_001004334.3:c.3656_3657delCT, NM_001004334.3:c.6847_6848delCT, NM_001004334.3:c.984delC, NM_001004334.3:c.1807C>T, NM_001004334.3:c.278_279insC, NM_001004334.3:c.5693_5694insT, NM_001004334.3:c.278delC, NM_001004334.3:c.1236G>A, NM_001004334.3:c.376G>C, NM_001004334.3:c.3233_3234delCT, NM_001004334.3:c.5763_5764delGA, NM_001004334.3:c.839_842delATCA, NM_001004334.3:c.4699_4700delAG |
| GPR98 | Usher syndrome type 2C | NM_032119.3 | NM_032119.3:c.11377G>T, NM_032119.3:c.8713_8716dupAACA, NM_032119.3:c.2864C>A, NM_032119.3:c.18131A>G, NM_032119.3:c.2258_2270delAAGTGCTGAAATC, NM_032119.3:c.6275-1G>A, NM_032119.3:c.2636C>T, NM_032119.3:c.14973-1G>C, NM_032119.3:c.17668_17669delAT, NM_032119.3:c.5357_5358delAA, NM_032119.3:c.5747C>T, NM_032119.3:c.15196_15199dupCAAA, NM_032119.3:c.3151G>T, NM_032119.3:c.6901C>T, NM_032119.3:c.8790delC, NM_032119.3:c.5830G>A, NM_032119.3:c.6311_6312insT |
| GRM6 | Night blindness, congenital stationary type 1B | NM_000843.3 | NM_000843.3:c.2341G>A, NM_000843.3:c.727_728insG, NM_000843.3:c.2213_2219delCCAGAGG, NM_000843.3:c.1861C>T, NM_000843.3:c.2560C>T, NM_000843.3:c.712C>T, NM_000843.3:c.2122C>T, NM_000843.3:c.719_720insG, NM_000843.3:c.1214T>C, NM_000843.3:c.1336C>T, NM_000843.3:c.1258C>T, NM_000843.3:c.1565G>A |
| GUSB | Mucopolysaccharidosis type 7 | NM_000181.3 | NM_000181.3:c.1065+1G>T, NM_000181.3:c.1084G>A, NM_000181.3:c.1144C>T, NM_000181.3:c.1337G>A, NM_000181.3:c.1222C>T, NM_000181.3:c.1730G>T, NM_000181.3:c.1831C>T, NM_000181.3:c.1856C>T, NM_000181.3:c.1881G>T, NM_000181.3:c.442C>T, NM_000181.3:c.499C>T, NM_000181.3:c.526C>T, NM_000181.3:c.646C>T, NM_000181.3:c.820_821delAC, NM_000181.3:c.1061C>T, NM_000181.3:c.1050G>C, NM_000181.3:c.1534G>A, NM_000181.3:c.1244C>T, NM_000181.3:c.1219_1220insC, NM_000181.3:c.866G>A, NM_000181.3:c.1244+1G>A, NM_000181.3:c.1521G>A, NM_000181.3:c.1429C>T, NM_000181.3:c.1618G>T, NM_000181.3:c.1338G>A |
| HADHA | Trifunctional protein deficiency | NM_000182.4 | NM_000182.4:c.1918C>T, NM_000182.4:c.274_278delTCATC, NM_000182.4:c.2131C>A, NM_000182.4:c.1793_1794delAT, NM_000182.4:c.1620+2_1620+6delTAAGG, NM_000182.4:c.2027G>A, NM_000182.4:c.1678C>T, NM_000182.4:c.2132_2133insC, NM_000182.4:c.2146+1G>A, NM_000182.4:c.919-2A>G, NM_000182.4:c.1644delC, NM_000182.4:c.1132C>T, NM_000182.4:c.1528G>C, NM_000182.4:c.499delA, NM_000182.4:c.845T>A, NM_000182.4:c.1422dupT |
| HBB | Beta-thalassemia | NM_000518.4 | NM_000518.4:c.135delC, NM_000518.4:c.118C>T, NM_000518.4:c.217dupA, NM_000518.4:c.92+5G>C, NM_000518.4:c.208G>A, NM_000518.4:c.85_86insC, NM_000518.4:c.92+5G>A, NM_000518.4:c.27dupG, NM_000518.4:c.126_129delCTTT, NM_000518.4:c.93-23T>C, NM_000518.4:c.92+1G>A, NM_000518.4:c.-50-u32C>T, NM_000518.4:c.82G>T, NM_000518.4:c.315+1G>A, NM_000518.4:c.52A>T, NM_000518.4:c.380T>A, NM_000518.4:c.93-21G>A, NM_000518.4:c.79G>A, NM_000518.4:c.112delT, NM_000518.4:c.92+6T>C, NM_000518.4:c.59A>G, NM_000518.4:c.364G>A |
| HBB | Sickle cell anaemia | NM_000518.4 | NM_000518.4:c.19G>A, NM_000518.4:c.20A>T |
| HESX1 | Combined pituitary hormone deficiencies, genetic forms | NM_003865.2 | NM_003865.2:c.374A>G, NM_003865.2:c.77T>C, NM_003865.2:c.445G>A, NM_003865.2:c.450_451delCA, NM_003865.2:c.18G>C |
| HEXA | Tay-Sachs disease | NM_000520.4 | NM_000520.4:c.1176G>A, NM_000520.4:c.1495C>T, NM_000520.4:c.1177C>T, NM_000520.4:c.116T>G, NM_000520.4:c.1510delC, NM_000520.4:c.1496G>A, NM_000520.4:c.1260G>C, NM_000520.4:c.1351C>G, NM_000520.4:c.1511G>A, NM_000520.4:c.1499delT, NM_000520.4:c.1510C>T, NM_000520.4:c.380T>G, NM_000520.4:c.459+5G>A, NM_000520.4:c.508C>T, NM_000520.4:c.509G>A, NM_000520.4:c.532C>T, NM_000520.4:c.533G>A, NM_000520.4:c.533G>T, NM_000520.4:c.1528C>T, NM_000520.4:c.173G>A, NM_000520.4:c.1A>G, NM_000520.4:c.1A>T, NM_000520.4:c.1444G>A, NM_000520.4:c.1453T>C, NM_000520.4:c.739C>T, NM_000520.4:c.745C>T, NM_000520.4:c.749G>A, NM_000520.4:c.759_774dupGCTTGCAGAGTTTGAC, NM_000520.4:c.772G>C, NM_000520.4:c.1214_1215delinsG, NM_000520.4:c.78G>A, NM_000520.4:c.538T>C, NM_000520.4:c.540C>G, NM_000520.4:c.805G>A, NM_000520.4:c.915_917delCTT, NM_000520.4:c.254-1G>C, NM_000520.4:c.2T>C, NM_000520.4:c.1537C>T, NM_000520.4:c.1490A>G, NM_000520.4:c.77G>A, NM_000520.4:c.1422G>C, NM_000520.4:c.805+1G>A, NM_000520.4:c.805+1G>C, NM_000520.4:c.672+1G>A, NM_000520.4:c.629C>T, NM_000520.4:c.987G>A, NM_000520.4:c.632T>C, NM_000520.4:c.1278_1279insTATC, NM_000520.4:c.1274_1277dupTATC, NM_000520.4:c.986+3A>G, NM_000520.4:c.611A>G, NM_000520.4:c.1277_1278insTAT |
| HEXB | Sandhoff disease | NM_000521.3 | NM_000521.3:c.1310_1311delCA, NM_000521.3:c.1380G>A, NM_000521.3:c.1367A>C, NM_000521.3:c.1238_1242delCAAAG, NM_000521.3:c.298delC, NM_000521.3:c.1345delT, NM_000521.3:c.797A>G, NM_000521.3:c.1539_1540delCT, NM_000521.3:c.1375G>T, NM_000521.3:c.508C>T, NM_000521.3:c.1517_1529dupCAAGTGCTGTTGG, NM_000521.3:c.841C>T, NM_000521.3:c.202_203insGG, NM_000521.3:c.1250C>T, NM_000521.3:c.1619_1620insTTCATGTTATCTACAGACGTG, NM_000521.3:c.1537_1538delCT, NM_000521.3:c.170delG, NM_000521.3:c.115delG, NM_000521.3:c.171delG, NM_000521.3:c.850C>T |
| HFE | Haemochromatosis | NM_000410.3 | NM_000410.3:c.18G>C, NM_000410.3:c.252G>A, NM_000410.3:c.989G>T, NM_000410.3:c.314T>C, NM_000410.3:c.193A>T, NM_000410.3:c.829G>A, NM_000410.3:c.277G>C |
| HGD | Alkaptonuria | NM_000187.3 | NM_000187.3:c.140C>T, NM_000187.3:c.16-1G>A, NM_000187.3:c.342+1G>A, NM_000187.3:c.1111_1112insC, NM_000187.3:c.899T>G, NM_000187.3:c.1189-2A>G, NM_000187.3:c.674G>A, NM_000187.3:c.175delA, NM_000187.3:c.283-5delT, NM_000187.3:c.172A>T, NM_000187.3:c.873C>A, NM_000187.3:c.283-4C>T, NM_000187.3:c.808G>A, NM_000187.3:c.1102A>G, NM_000187.3:c.469+2T>C, NM_000187.3:c.688C>T, NM_000187.3:c.481G>A |
| HGSNAT | Mucopolysaccharidosis type 3C | NM_152419.2 | NM_152419.2:c.1378-1G>A, NM_152419.2:c.1843G>A, NM_152419.2:c.607C>T, NM_152419.2:c.1250+1G>A, NM_152419.2:c.848C>T, NM_152419.2:c.1464+1G>A, NM_152419.2:c.1501delA, NM_152419.2:c.1030C>T, NM_152419.2:c.1503delA, NM_152419.2:c.1553C>T, NM_152419.2:c.1622C>T, NM_152419.2:c.493+1G>A |
| HPD | Tyrosinemia type 3 | NM_002150.2 | NM_002150.2:c.600C>G, NM_002150.2:c.774T>G, NM_002150.2:c.1005C>G, NM_002150.2:c.987delA |
| IGHMBP2 | Spinal muscular atrophy, distal, type 1, autosomal recessive | NM_002180.2 | NM_002180.2:c.1488C>A, NM_002180.2:c.2611+1G>T, NM_002180.2:c.1540G>A, NM_002180.2:c.1738G>A, NM_002180.2:c.661delA, NM_002180.2:c.121C>T, NM_002180.2:c.1101_1116delCTACTTCGACGTGGTG, NM_002180.2:c.2922T>G, NM_002180.2:c.1107C>G, NM_002180.2:c.2362C>T, NM_002180.2:c.638A>G |
| IMPDH1 | Retinitis pigmentosa type 10 | NM_000883.3 | NM_000883.3:c.1057G>A, NM_000883.3:c.1390delC, NM_000883.3:c.931G>A |
| INPP5E | Joubert syndrome type 1 | NM_019892.4 | NM_019892.4:c.1132C>T, NM_019892.4:c.855_856insCG, NM_019892.4:c.1688G>A, NM_019892.4:c.1543C>T, NM_019892.4:c.1304G>A |
| INPP5E | MORM syndrome | NM_019892.4 | NM_019892.4:c.1879C>T |
| INSR | Diabetes mellitus, insulin-resistant | NM_000208.2 | NM_000208.2:c.3079C>T, NM_000208.2:c.3680G>C, NM_000208.2:c.3034G>A, NM_000208.2:c.1114C>T, NM_000208.2:c.1378A>G |
| INSR | Leprechaunism | NM_000208.2 | NM_000208.2:c.2668C>T, NM_000208.2:c.172G>A |
| ITGB4 | Epidermolysis bullosa, junctional with pyloric atresia | NM_001005731.1 | NM_001005731.1:c.112T>C, NM_001005731.1:c.1684T>C, NM_001005731.1:c.1150delG, NM_001005731.1:c.1544G>A, NM_001005731.1:c.3977-19T>A, NM_001005731.1:c.4410delG, NM_001005731.1:c.4433G>A, NM_001005731.1:c.5119+2T>C, NM_001005731.1:c.3321_3331delACTGGACCGGA, NM_001005731.1:c.4618C>T, NM_001005731.1:c.182G>A, NM_001005731.1:c.2607delC, NM_001005731.1:c.3801_3802insT, NM_001005731.1:c.3841C>T, NM_001005731.1:c.2608delC, NM_001005731.1:c.3793+1G>A, NM_001005731.1:c.1660C>T, NM_001005731.1:c.3674G>A |
| ITGB4 | Epidermolysis bullosa, without pyloric atresia | NM_001005731.1 | NM_001005731.1:c.2792G>A |
| IVD | Isovaleric acidemia | NM_002225.3 | NM_002225.3:c.158G>C, NM_002225.3:c.1208A>G, NM_002225.3:c.157C>T, NM_002225.3:c.1141T>C, NM_002225.3:c.243+1G>A, NM_002225.3:c.1147+1_1147+4delGTGA, NM_002225.3:c.367G>A, NM_002225.3:c.605G>T, NM_002225.3:c.1145_1147+4delTTGGTGA, NM_002225.3:c.559+1G>A, NM_002225.3:c.134T>C, NM_002225.3:c.941C>T, NM_002225.3:c.627delT, NM_002225.3:c.793+1G>A, NM_002225.3:c.2T>G, NM_002225.3:c.1183C>T, NM_002225.3:c.390delT, NM_002225.3:c.406_407delTG, NM_002225.3:c.158G>A, NM_002225.3:c.593G>A, NM_002225.3:c.507delG, NM_002225.3:c.1188delT, NM_002225.3:c.465+2T>C, NM_002225.3:c.434_437dupATGA, NM_002225.3:c.860G>A, NM_002225.3:c.994_995delAT, NM_002225.3:c.1192C>T, NM_002225.3:c.478_479insGT |
| JAK3 | Severe combined immunodeficiency T-B+NK- | NM_000215.3 | NM_000215.3:c.452C>G, NM_000215.3:c.1765G>A, NM_000215.3:c.1333C>T, NM_000215.3:c.1172_1173insG, NM_000215.3:c.1837C>T, NM_000215.3:c.299A>G, NM_000215.3:c.1695C>A |
| KCNJ1 | Bartter syndrome type 2 | NM_000220.4 | NM_000220.4:c.1012C>T, NM_000220.4:c.1070T>C, NM_000220.4:c.592G>A, NM_000220.4:c.322G>C, NM_000220.4:c.372T>A, NM_000220.4:c.500G>A, NM_000220.4:c.237C>G, NM_000220.4:c.1014delA, NM_000220.4:c.641C>T, NM_000220.4:c.657C>G, NM_000220.4:c.996_999delAAAG, NM_000220.4:c.942T>G |
| KCNV2 | Retinal cone dystrophy type 3B | NM_133497.3 | NM_133497.3:c.1016_1024delACCTGGTGG, NM_133497.3:c.1376G>A, NM_133497.3:c.427G>T, NM_133497.3:c.226C>T, NM_133497.3:c.325C>T, NM_133497.3:c.357_358insC, NM_133497.3:c.1480A>C, NM_133497.3:c.1132_1133insT, NM_133497.3:c.854T>G, NM_133497.3:c.491T>C, NM_133497.3:c.767C>G, NM_133497.3:c.916G>T, NM_133497.3:c.778A>T, NM_133497.3:c.442G>T |
| LAMA2 | Congenital muscular dystrophy type 1A | NM_000426.3 | NM_000426.3:c.184G>T, NM_000426.3:c.1612C>T, NM_000426.3:c.3718C>T, NM_000426.3:c.2750-1G>C, NM_000426.3:c.2049_2050delAG, NM_000426.3:c.5050G>T, NM_000426.3:c.1634T>A, NM_000426.3:c.2045_2046delAG, NM_000426.3:c.4645C>T, NM_000426.3:c.2962C>T, NM_000426.3:c.2098_2099delTT, NM_000426.3:c.4437-5T>A, NM_000426.3:c.2901C>A, NM_000426.3:c.112+1G>A, NM_000426.3:c.7732C>T, NM_000426.3:c.6038delT, NM_000426.3:c.7888C>T, NM_000426.3:c.825delC, NM_000426.3:c.8314delA, NM_000426.3:c.3976C>T, NM_000426.3:c.9101_9104dupAACA, NM_000426.3:c.9253C>T, NM_000426.3:c.2323-2A>T, NM_000426.3:c.8748delA, NM_000426.3:c.6334A>T, NM_000426.3:c.1050delT, NM_000426.3:c.7536delC, NM_000426.3:c.8705delT, NM_000426.3:c.9221delA, NM_000426.3:c.5227G>T, NM_000426.3:c.6429+1G>A, NM_000426.3:c.6617delT, NM_000426.3:c.2451-2A>G, NM_000426.3:c.6011delA, NM_000426.3:c.7810C>T, NM_000426.3:c.8684C>G, NM_000426.3:c.3630delT, NM_000426.3:c.3215delG, NM_000426.3:c.3623_3645delAGGGCATTGTTTTTCAACATCCA, NM_000426.3:c.6955C>T, NM_000426.3:c.7279_7280delCT, NM_000426.3:c.725G>A, NM_000426.3:c.7147C>T, NM_000426.3:c.3237C>A |
| LAMB3 | Epidermolysis bullosa, junctional | NM_000228.2 | NM_000228.2:c.1587_1588delAG, NM_000228.2:c.124C>T, NM_000228.2:c.1438_1442delCCGTG, NM_000228.2:c.1830G>A, NM_000228.2:c.565-2A>G, NM_000228.2:c.2806C>T, NM_000228.2:c.904delT, NM_000228.2:c.1357delT, NM_000228.2:c.3228+1G>T, NM_000228.2:c.628+1delG, NM_000228.2:c.496C>T, NM_000228.2:c.1903C>T, NM_000228.2:c.628G>A, NM_000228.2:c.3228+1G>A, NM_000228.2:c.727C>T |
| LMNA | Cardiomyopathy, dilated type 1A | NM_170707.3 | NM_170707.3:c.1366A>C, NM_170707.3:c.1930C>T, NM_170707.3:c.1567G>A, NM_170707.3:c.1786G>A |
| LMNA | Hutchinson-Gilford progeria syndrome | NM_170707.3 | NM_170707.3:c.1579C>T, NM_170707.3:c.1411C>T, NM_170707.3:c.1824C>T, NM_170707.3:c.1626G>C |
| LMNA | Lipodystrophy, familial partial, type 2 | NM_170707.3 | NM_170707.3:c.1318G>A |
| LMNA | Mandibuloacral dysplasia | NM_170707.3 | NM_170707.3:c.1586C>T, NM_170707.3:c.1580G>A, NM_170707.3:c.1585G>A, NM_170707.3:c.1228C>T |
| LMNA | Muscular dystrophy, Emery-Dreifuss type 3 | NM_170707.3 | NM_170707.3:c.1072G>A, NM_170707.3:c.419T>C, NM_170707.3:c.1488+1G>A, NM_170707.3:c.1583C>A |
| LRP5 | Exudative vitreoretinopathy type 4 | NM_002335.3 | NM_002335.3:c.2254C>G, NM_002335.3:c.518C>T, NM_002335.3:c.1709G>A, NM_002335.3:c.804_813delGGGGAAGAGG, NM_002335.3:c.4099G>A |
| LRP5 | Isolated polycystic liver disease | NM_002335.3 | NM_002335.3:c.4651G>A |
| LRP5 | Osteoporosis-pseudoglioma syndrome | NM_002335.3 | NM_002335.3:c.1481G>A, NM_002335.3:c.1453G>T, NM_002335.3:c.1468delG, NM_002335.3:c.2305delG, NM_002335.3:c.2202G>A, NM_002335.3:c.1708C>T, NM_002335.3:c.3107G>A, NM_002335.3:c.2557C>T |
| MAN2B1 | Alpha-mannosidosis | NM_000528.3 | NM_000528.3:c.215A>T, NM_000528.3:c.2401G>T, NM_000528.3:c.2278C>T, NM_000528.3:c.2368C>T, NM_000528.3:c.2119C>T, NM_000528.3:c.2013delT, NM_000528.3:c.1A>G, NM_000528.3:c.1067C>G, NM_000528.3:c.384G>A, NM_000528.3:c.2398G>A, NM_000528.3:c.1915C>T, NM_000528.3:c.2426T>C, NM_000528.3:c.2436+2T>C, NM_000528.3:c.1259G>T, NM_000528.3:c.1780C>T, NM_000528.3:c.1929G>A, NM_000528.3:c.2686_2687delCTinsG, NM_000528.3:c.1830+1G>C |
| MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency, type 2 | NM_022132.4 | NM_022132.4:c.295G>C, NM_022132.4:c.380C>G, NM_022132.4:c.1309A>G, NM_022132.4:c.515_516insT, NM_022132.4:c.1015G>A, NM_022132.4:c.464G>A, NM_022132.4:c.641delG, NM_022132.4:c.1576_1577insT, NM_022132.4:c.735_736insC, NM_022132.4:c.517_518insT, NM_022132.4:c.838G>T, NM_022132.4:c.499T>C, NM_022132.4:c.1367C>T, NM_022132.4:c.929C>G, NM_022132.4:c.1065A>T, NM_022132.4:c.1580G>A, NM_022132.4:c.994C>T, NM_022132.4:c.1072+1G>A |
| MED25 | Charcot-Marie-Tooth disease type 2B2 | NM_030973.3 | NM_030973.3:c.316delG, NM_030973.3:c.1366C>T, NM_030973.3:c.1004C>T |
| MEFV | Familial mediterranean fever | NM_000243.2 | NM_000243.2:c.163_164insA, NM_000243.2:c.1437C>G, NM_000243.2:c.2282G>A, NM_000243.2:c.163dupA, NM_000243.2:c.2076_2078delAAT, NM_000243.2:c.1958G>A, NM_000243.2:c.443A>T, NM_000243.2:c.656_657insG, NM_000243.2:c.688G>A, NM_000243.2:c.800C>T, NM_000243.2:c.1223G>A, NM_000243.2:c.501G>C, NM_000243.2:c.2040G>A, NM_000243.2:c.2040G>C, NM_000243.2:c.2084A>G, NM_000243.2:c.1141C>T, NM_000243.2:c.1016C>T, NM_000243.2:c.2177T>C, NM_000243.2:c.1772T>C, NM_000243.2:c.2080A>G, NM_000243.2:c.2082G>A, NM_000243.2:c.2230G>T |
| MERTK | Retinitis pigmentosa type 38 | NM_006343.2 | NM_006343.2:c.2189+1G>T, NM_006343.2:c.1605-2A>G, NM_006343.2:c.2070_2074delAGGAC, NM_006343.2:c.2784_2785insTA, NM_006343.2:c.2785_2786dupTA, NM_006343.2:c.2323C>T, NM_006343.2:c.2207_2210delCTGT |
| MFRP | Microphthalmia - Retinitis pigmentosa - foveoschisis - optic disc drusen | NM_031433.3 | NM_031433.3:c.498delC, NM_031433.3:c.523C>T, NM_031433.3:c.629G>T, NM_031433.3:c.1150_1151insC, NM_031433.3:c.545T>C, NM_031433.3:c.1124+1G>T |
| MKKS | Bardet-Biedl/McKusick-Kaufman syndrome | NM_018848.3 | NM_018848.3:c.353delG |
| MKKS | Bardet-Biedl syndrome type 6 | NM_018848.3 | NM_018848.3:c.830T>C, NM_018848.3:c.1436C>G |
| MKKS | McKusick-Kaufman syndrome | NM_018848.3 | NM_018848.3:c.250C>T, NM_018848.3:c.1225_1226delGG, NM_018848.3:c.724G>T |
| MKS1 | Bardet-Biedl syndrome type 13 | NM_017777.3 | NM_017777.3:c.1349T>C |
| MKS1 | Meckel type 1/Bardet-Biedl syndrome | NM_017777.3 | NM_017777.3:c.1024+1G>A, NM_017777.3:c.857A>G, NM_017777.3:c.1319T>C, NM_017777.3:c.814G>C, NM_017777.3:c.508C>T, NM_017777.3:c.1319G>C |
| MMACHC | Methylmalonic aciduria cblC type, with homocystinuria | NM_015506.2 | NM_015506.2:c.389A>G, NM_015506.2:c.388T>C, NM_015506.2:c.482G>A, NM_015506.2:c.609G>A, NM_015506.2:c.688C>T, NM_015506.2:c.394C>T, NM_015506.2:c.440G>C, NM_015506.2:c.608G>A, NM_015506.2:c.481C>T, NM_015506.2:c.619_620insG, NM_015506.2:c.547_548delGT, NM_015506.2:c.347T>C, NM_015506.2:c.658_660delAAG, NM_015506.2:c.388_390delTAC, NM_015506.2:c.615C>A, NM_015506.2:c.331C>T, NM_015506.2:c.616C>T, NM_015506.2:c.270_271insA, NM_015506.2:c.271dupA, NM_015506.2:c.615C>G |
| MOCS2 | Molybdenum cofactor deficiency type B | NM_176806.3 | NM_176806.3:c.106_107delAT, NM_176806.3:c.*297+1G>A, NM_176806.3:c.58delT, NM_176806.3:c.245delT, NM_176806.3:c.190G>A, NM_176806.3:c.16C>T, NM_176806.3:c.*487A>C, NM_176806.3:c.*422G>A, NM_176806.3:c.*26_*27delAT, NM_176806.3:c.539_540delAA, NM_176806.3:c.*459_*460delAA |
| MTTP | Abetalipoproteinemia | NM_000253.3 | NM_000253.3:c.1769G>T, NM_000253.3:c.2030delC, NM_000253.3:c.1619G>A, NM_000253.3:c.2593G>T, NM_000253.3:c.708_709delCA, NM_000253.3:c.1867+1G>A, NM_000253.3:c.703_704delAC |
| MUT | Methylmalonic acidemia | NM_000255.3 | NM_000255.3:c.1420C>T, NM_000255.3:c.1445-2A>G, NM_000255.3:c.2080C>T, NM_000255.3:c.1867G>A, NM_000255.3:c.607G>A, NM_000255.3:c.1658delT, NM_000255.3:c.1280G>A, NM_000255.3:c.1399C>T, NM_000255.3:c.914T>C, NM_000255.3:c.643G>A, NM_000255.3:c.655A>T, NM_000255.3:c.1741C>T, NM_000255.3:c.1106G>A, NM_000255.3:c.1871A>G, NM_000255.3:c.1924G>C, NM_000255.3:c.682C>T, NM_000255.3:c.572C>A, NM_000255.3:c.313T>C, NM_000255.3:c.1181T>A, NM_000255.3:c.278G>A, NM_000255.3:c.678_679insAATTTATG, NM_000255.3:c.794dupT, NM_000255.3:c.671_678dupAATTTATG, NM_000255.3:c.2150G>T, NM_000255.3:c.280G>A, NM_000255.3:c.91C>T, NM_000255.3:c.1207C>T |
| MVK | Hyper-IgD syndrome | NM_000431.3 | NM_000431.3:c.829C>T, NM_000431.3:c.803T>C, NM_000431.3:c.185G>A, NM_000431.3:c.494C>T, NM_000431.3:c.59A>C, NM_000431.3:c.1129G>A |
| MVK | Mevalonic aciduria | NM_000431.3 | NM_000431.3:c.1000G>A, NM_000431.3:c.902A>C, NM_000431.3:c.928G>A |
| MYO15A | Deafness type 3, autosomal recessive | NM_016239.3 | NM_016239.3:c.3385C>T, NM_016239.3:c.6003delG, NM_016239.3:c.6004delG, NM_016239.3:c.10573delA, NM_016239.3:c.3313G>T, NM_016239.3:c.3336delG, NM_016239.3:c.755dupA, NM_016239.3:c.5492G>T, NM_016239.3:c.4351G>A, NM_016239.3:c.6864_6874delGGACCTGGAGC, NM_016239.3:c.4751_4752dupTC, NM_016239.3:c.625G>T, NM_016239.3:c.3693-2A>G, NM_016239.3:c.6614C>T, NM_016239.3:c.6743C>T, NM_016239.3:c.6046+2T>G, NM_016239.3:c.5326C>T, NM_016239.3:c.3756+1G>T, NM_016239.3:c.8410A>T, NM_016239.3:c.8429_8447delGCGGGCAGCTGCGGGTCCT, NM_016239.3:c.8148G>T, NM_016239.3:c.9958_9961delGACT, NM_016239.3:c.4750_4751insTC, NM_016239.3:c.8548C>T |
| MYO3A | Deafness type 30, autosomal recessive | NM_017433.4 | NM_017433.4:c.1086T>G, NM_017433.4:c.2793+2T>A, NM_017433.4:c.4586+2T>G, NM_017433.4:c.4730+1G>A, NM_017433.4:c.1A>G, NM_017433.4:c.2506-1G>A, NM_017433.4:c.1777-12G>A, NM_017433.4:c.1952delC, NM_017433.4:c.1193C>A, NM_017433.4:c.770C>G, NM_017433.4:c.3154C>T, NM_017433.4:c.585+5G>C, NM_017433.4:c.2243delA, NM_017433.4:c.3112-2A>G, NM_017433.4:c.732-2A>G |
| MYO6 | Deafness type 37, autosomal recessive | NM_004999.3 | NM_004999.3:c.2897_2899delAAG, NM_004999.3:c.2840G>A, NM_004999.3:c.647A>T, NM_004999.3:c.3496C>T, NM_004999.3:c.3808C>T, NM_004999.3:c.1446_1447insT |
| MYO7A | Deafness type 2, autosomal recessive | NM_000260.3 | NM_000260.3:c.1797G>A, NM_000260.3:c.2023C>T, NM_000260.3:c.731G>C, NM_000260.3:c.3596dupT, NM_000260.3:c.1184G>A, NM_000260.3:c.133-2A>G |
| MYO7A | Usher syndrome type 1B | NM_000260.3 | NM_000260.3:c.1996C>T, NM_000260.3:c.1884C>A, NM_000260.3:c.448C>T, NM_000260.3:c.2476G>A, NM_000260.3:c.4024delT, NM_000260.3:c.2617C>T, NM_000260.3:c.5227C>T, NM_000260.3:c.1344-1G>A, NM_000260.3:c.5507T>G, NM_000260.3:c.5886_5889delCTTT, NM_000260.3:c.3504-1G>C, NM_000260.3:c.3508G>A, NM_000260.3:c.4018G>A, NM_000260.3:c.5392C>T, NM_000260.3:c.640G>A, NM_000260.3:c.3134T>C, NM_000260.3:c.5824G>T, NM_000260.3:c.3G>A, NM_000260.3:c.494C>T, NM_000260.3:c.5618G>A, NM_000260.3:c.5884_5887delTTCT, NM_000260.3:c.634C>T, NM_000260.3:c.3719G>A, NM_000260.3:c.5967C>G, NM_000260.3:c.3763delA, NM_000260.3:c.635G>A, NM_000260.3:c.6025delG |
| NAGA | Schindler disease | NM_000262.2 | NM_000262.2:c.973G>A, NM_000262.2:c.985C>T, NM_000262.2:c.986G>A, NM_000262.2:c.577G>T |
| NEB | Nemaline myopathy type 2 | NM_004543.4 | NM_004543.4:c.11474_11475delTG, NM_004543.4:c.19119_19120delGA, NM_004543.4:c.19306-1G>A, NM_004543.4:c.19606G>T, NM_004543.4:c.6105dupT, NM_004543.4:c.3191A>G, NM_004543.4:c.18318_18319delAG, NM_004543.4:c.11473_11474delAT, NM_004543.4:c.2173G>T, NM_004543.4:c.19097_19098delTT, NM_004543.4:c.19836+1_19836+2insATGGA, NM_004543.4:c.18825+1370C>T, NM_004543.4:c.5567G>A, NM_004543.4:c.6105_6106insT, NM_004543.4:c.16842+1G>A, NM_004543.4:c.843T>G, NM_004543.4:c.8031_8041delAAATAAACGAG, NM_004543.4:c.14182_14183delGCinsAA, NM_004543.4:c.15973C>T |
| NMNAT1 | Leber congenital amaurosis type 9 | NM_022787.3 | NM_022787.3:c.451G>T, NM_022787.3:c.25G>A, NM_022787.3:c.457C>G, NM_022787.3:c.507G>A, NM_022787.3:c.710G>T, NM_022787.3:c.619C>T, NM_022787.3:c.769G>A |
| NPC1 | Niemann-Pick disease type C1 | NM_000271.4 | NM_000271.4:c.1042C>T, NM_000271.4:c.2842G>A, NM_000271.4:c.1628C>T, NM_000271.4:c.2974G>T, NM_000271.4:c.3019C>G, NM_000271.4:c.1211G>A, NM_000271.4:c.2072C>T, NM_000271.4:c.2324A>C, NM_000271.4:c.337T>C, NM_000271.4:c.3107C>T, NM_000271.4:c.530G>A, NM_000271.4:c.743G>T, NM_000271.4:c.3611_3614delTTAC, NM_000271.4:c.813_815delCAT, NM_000271.4:c.2932C>T, NM_000271.4:c.3425T>C, NM_000271.4:c.2761C>T, NM_000271.4:c.3104C>T, NM_000271.4:c.3662delT, NM_000271.4:c.2972_2973delAG, NM_000271.4:c.2974G>A, NM_000271.4:c.2873G>A, NM_000271.4:c.352_353delAG, NM_000271.4:c.3182T>C, NM_000271.4:c.3467A>G, NM_000271.4:c.3175C>T, NM_000271.4:c.2861C>T, NM_000271.4:c.2848G>A |
| NPC2 | Niemann-Pick disease type C2 | NM_006432.3 | NM_006432.3:c.115G>A, NM_006432.3:c.190+5G>A, NM_006432.3:c.27delG, NM_006432.3:c.352G>T, NM_006432.3:c.58G>T, NM_006432.3:c.358C>T, NM_006432.3:c.295T>C, NM_006432.3:c.441+1G>A, NM_006432.3:c.436C>T |
| NPHP3 | Nephronophthisis type 3 | NM_153240.4 | NM_153240.4:c.1817G>A, NM_153240.4:c.434_437delAAAG, NM_153240.4:c.1119-2A>G, NM_153240.4:c.1729C>T, NM_153240.4:c.2694-2A>G, NM_153240.4:c.1985+5G>A, NM_153240.4:c.3406C>T, NM_153240.4:c.3373C>T, NM_153240.4:c.1381G>T, NM_153240.4:c.2694-2_2694-1delAG, NM_153240.4:c.1157A>G, NM_153240.4:c.2369T>C, NM_153240.4:c.3550G>A, NM_153240.4:c.2541delG, NM_153240.4:c.2570+1G>T, NM_153240.4:c.3156_3157insA, NM_153240.4:c.3662C>T |
| NPHP4 | Nephronophthisis type 4 | NM_015102.4 | NM_015102.4:c.4179T>A, NM_015102.4:c.3767_3768insAA, NM_015102.4:c.3674C>T, NM_015102.4:c.556_557insT, NM_015102.4:c.2940_2944dupGCTCC, NM_015102.4:c.3231+1G>C, NM_015102.4:c.517C>T, NM_015102.4:c.2335C>T, NM_015102.4:c.2219G>A, NM_015102.4:c.7G>T, NM_015102.4:c.1972C>T, NM_015102.4:c.1120-1G>C |
| NPHS1 | Nephrotic syndrome type 1 | NM_004646.3 | NM_004646.3:c.59-5C>G, NM_004646.3:c.3109+1G>A, NM_004646.3:c.3478C>T, NM_004646.3:c.121_122delCT, NM_004646.3:c.1481delC, NM_004646.3:c.2456A>T, NM_004646.3:c.2491C>T, NM_004646.3:c.2464G>A, NM_004646.3:c.1307_1308dupAC, NM_004646.3:c.3250delG, NM_004646.3:c.3325C>T, NM_004646.3:c.2928G>T, NM_004646.3:c.3250_3251insG, NM_004646.3:c.2746G>T, NM_004646.3:c.1715G>A |
| NR2E3 | Enhaced S-Cone Syndrome | NM_014249.3 | NM_014249.3:c.119-2A>C, NM_014249.3:c.297_298delGT, NM_014249.3:c.932G>A, NM_014249.3:c.226C>T, NM_014249.3:c.361G>A, NM_014249.3:c.227G>A, NM_014249.3:c.1034_1038delTGCAG |
| OCA2 | Oculocutaneous albinism type 2 | NM_000275.2 | NM_000275.2:c.1610A>G, NM_000275.2:c.1960delG, NM_000275.2:c.2359G>A, NM_000275.2:c.819_822delCTGGinsGGTC, NM_000275.2:c.2228C>T, NM_000275.2:c.1025A>G, NM_000275.2:c.1842+1G>T, NM_000275.2:c.157delA, NM_000275.2:c.1182G>A, NM_000275.2:c.1182+2T>C, NM_000275.2:c.1441G>A, NM_000275.2:c.79G>A, NM_000275.2:c.1465A>G, NM_000275.2:c.1327G>A, NM_000275.2:c.1364+1G>T |
| OTOA | Deafness type 22, autosomal recessive | NM_144672.3 | NM_144672.3:c.2301+1G>T, NM_144672.3:c.2359G>T, NM_144672.3:c.121-1G>A, NM_144672.3:c.827delT, NM_144672.3:c.1725_1726delCA |
| OTOF | Deaffness type 9, autosomal recessive | NM_194248.2 | NM_194248.2:c.149G>A, NM_194248.2:c.1867G>A, NM_194248.2:c.1669G>A, NM_194248.2:c.2381G>A, NM_194248.2:c.1498C>T, NM_194248.2:c.1544T>C, NM_194248.2:c.5473C>G, NM_194248.2:c.1150G>A, NM_194248.2:c.1778delT, NM_194248.2:c.5103+2T>A, NM_194248.2:c.227+2T>C, NM_194248.2:c.5474_5475delCC, NM_194248.2:c.5332G>A, NM_194248.2:c.584-1G>C, NM_194248.2:c.98G>A, NM_194248.2:c.2348delG, NM_194248.2:c.3032T>C, NM_194248.2:c.4559G>A, NM_194248.2:c.4491T>A, NM_194248.2:c.5816G>A, NM_194248.2:c.766-2A>G, NM_194248.2:c.2485C>T, NM_194248.2:c.2401G>T |
| PAH | Phenylketonuria | NM_000277.1 | NM_000277.1:c.1139C>T, NM_000277.1:c.1066-3C>T, NM_000277.1:c.117C>G, NM_000277.1:c.1166delC, NM_000277.1:c.1068C>A, NM_000277.1:c.1315+1G>A, NM_000277.1:c.1162G>A, NM_000277.1:c.143T>C, NM_000277.1:c.1243G>A, NM_000277.1:c.1169A>G, NM_000277.1:c.136G>A, NM_000277.1:c.1184C>A, NM_000277.1:c.194T>C, NM_000277.1:c.1199+17G>A, NM_000277.1:c.232G>A, NM_000277.1:c.1045T>C, NM_000277.1:c.1197A>T, NM_000277.1:c.441+1G>A, NM_000277.1:c.442-1G>A, NM_000277.1:c.442-5C>G, NM_000277.1:c.450_451insA, NM_000277.1:c.472C>T, NM_000277.1:c.204A>T, NM_000277.1:c.482T>C, NM_000277.1:c.250G>T, NM_000277.1:c.261C>A, NM_000277.1:c.1030G>A, NM_000277.1:c.1199+1G>A, NM_000277.1:c.1238G>C, NM_000277.1:c.1241A>G, NM_000277.1:c.673C>G, NM_000277.1:c.688G>A, NM_000277.1:c.721C>T, NM_000277.1:c.722delG, NM_000277.1:c.722G>A, NM_000277.1:c.727C>T, NM_000277.1:c.728G>A, NM_000277.1:c.733G>C, NM_000277.1:c.734T>C, NM_000277.1:c.737C>A, NM_000277.1:c.745C>T, NM_000277.1:c.1042C>G, NM_000277.1:c.638T>C, NM_000277.1:c.764T>C, NM_000277.1:c.782G>A, NM_000277.1:c.806delT, NM_000277.1:c.809G>A, NM_000277.1:c.814G>T, NM_000277.1:c.818C>T, NM_000277.1:c.823C>T, NM_000277.1:c.829T>G, NM_000277.1:c.898G>T, NM_000277.1:c.912+1G>A, NM_000277.1:c.284_286delTCA, NM_000277.1:c.754C>T, NM_000277.1:c.755G>A, NM_000277.1:c.357delC, NM_000277.1:c.1217T>C, NM_000277.1:c.1222C>T, NM_000277.1:c.157C>T, NM_000277.1:c.158G>A, NM_000277.1:c.165T>G, NM_000277.1:c.473G>A, NM_000277.1:c.490A>G, NM_000277.1:c.503delA, NM_000277.1:c.508C>G, NM_000277.1:c.533A>G, NM_000277.1:c.665A>G, NM_000277.1:c.838G>A, NM_000277.1:c.842+5G>A, NM_000277.1:c.896T>G, NM_000277.1:c.320A>G, NM_000277.1:c.441+5G>T, NM_000277.1:c.311C>A, NM_000277.1:c.527G>T, NM_000277.1:c.529G>A, NM_000277.1:c.47_48delCT, NM_000277.1:c.1208C>T, NM_000277.1:c.331C>T, NM_000277.1:c.926C>T, NM_000277.1:c.955G>T, NM_000277.1:c.926C>A, NM_000277.1:c.509+1G>A, NM_000277.1:c.1033G>T, NM_000277.1:c.611A>G, NM_000277.1:c.1066-11G>A, NM_000277.1:c.569T>C |
| PALB2 | Fanconi anemia, complementation group N | NM_024675.3 | NM_024675.3:c.1882_1890delAAGTCCTGC, NM_024675.3:c.2962C>T, NM_024675.3:c.50T>G, NM_024675.3:c.3116delA, NM_024675.3:c.3287A>G, NM_024675.3:c.3549C>G, NM_024675.3:c.3113G>A, NM_024675.3:c.2816T>G, NM_024675.3:c.1240C>T, NM_024675.3:c.557_558insA |
| PANK2 | Pantothenate kinase-associated neurodegeneration | NM_153638.2 | NM_153638.2:c.1561G>A, NM_153638.2:c.688G>A, NM_153638.2:c.790C>T, NM_153638.2:c.821_822delCT, NM_153638.2:c.1583C>T, NM_153638.2:c.1211A>T |
| PC | Pyruvate carboxylase deficiency | NM_000920.3 | NM_000920.3:c.434T>C, NM_000920.3:c.1748G>T, NM_000920.3:c.496G>A |
| PCCA | Propionic acidemia type 1 | NM_000282.3 | NM_000282.3:c.1598_1601delTTGT, NM_000282.3:c.412G>A, NM_000282.3:c.1226_1227delTT, NM_000282.3:c.1891G>C, NM_000282.3:c.1899+1_1899+4delGTAA, NM_000282.3:c.1284+1G>A, NM_000282.3:c.229C>T, NM_000282.3:c.1023dupT, NM_000282.3:c.600+1G>A, NM_000282.3:c.261_262insT, NM_000282.3:c.1118T>A, NM_000282.3:c.862A>T |
| PCCB | Propionic acidemia type 2 | NM_000532.4 | NM_000532.4:c.1279_1291delGTTCCCinsAA, NM_000532.4:c.1283C>T, NM_000532.4:c.337C>T, NM_000532.4:c.1538_1540dupCCC, NM_000532.4:c.990dupT, NM_000532.4:c.1304A>G, NM_000532.4:c.1228C>T, NM_000532.4:c.1229_1230insT, NM_000532.4:c.1606A>G, NM_000532.4:c.1223_1226delTCAT, NM_000532.4:c.1490C>T, NM_000532.4:c.1534C>T, NM_000532.4:c.1173_1174insT, NM_000532.4:c.1540_1541insCCC, NM_000532.4:c.331C>T, NM_000532.4:c.683C>T, NM_000532.4:c.797G>T, NM_000532.4:c.737G>T, NM_000532.4:c.1218_1231delinsTAGAGCACAGGA, NM_000532.4:c.502G>A, NM_000532.4:c.562G>A, NM_000532.4:c.1219_1224delGGCATCinsAA |
| PCDH15 | Usher syndrome type 1F | NM_033056.3 | NM_033056.3:c.1583T>A, NM_033056.3:c.4885delA, NM_033056.3:c.4961_4962insTGAT, NM_033056.3:c.5659A>T, NM_033056.3:c.4937_4940dupTGAT, NM_033056.3:c.785G>A, NM_033056.3:c.5622_5624delAAC, NM_033056.3:c.400C>T, NM_033056.3:c.5724_5755delACGCACAAATGTTTCAGAACTTCAAACTATGT, NM_033056.3:c.4864delA, NM_033056.3:c.1737C>G, NM_033056.3:c.1021C>T, NM_033056.3:c.1088delT, NM_033056.3:c.1006C>T, NM_033056.3:c.1940C>G, NM_033056.3:c.400C>G, NM_033056.3:c.3718-2A>G, NM_033056.3:c.4548_4551dupATCT, NM_033056.3:c.7C>T, NM_033056.3:c.2645_2646delAT |
| PDE6A | Retinitis pigmentosa type 43 | NM_000440.2 | NM_000440.2:c.1683G>A, NM_000440.2:c.1113+1G>T, NM_000440.2:c.718-4_718-3insT, NM_000440.2:c.1749C>G, NM_000440.2:c.2053G>A, NM_000440.2:c.1560_1561insA, NM_000440.2:c.304C>A, NM_000440.2:c.1040C>T, NM_000440.2:c.1113+1G>A |
| PDE6B | Retinitis pigmentosa type 43 | NM_000283.3 | NM_000283.3:c.1580T>C, NM_000283.3:c.655T>C, NM_000283.3:c.1540delC, NM_000283.3:c.1572delC, NM_000283.3:c.1920+2T>C, NM_000283.3:c.1669C>T, NM_000283.3:c.892C>T |
| PEX1 | Peroxisome biogenesis disorder type 1A | NM_000466.2 | NM_000466.2:c.2097dupT, NM_000466.2:c.2916delA, NM_000466.2:c.1842delA, NM_000466.2:c.1991T>C, NM_000466.2:c.1239+1G>T |
| PEX1 | Peroxisome biogenesis disorder type 1B | NM_000466.2 | NM_000466.2:c.2097_2098insT, NM_000466.2:c.1952_1960dupCAGTGTGGA, NM_000466.2:c.877C>T, NM_000466.2:c.3505_3517delCAGTTGTTTTCAC, NM_000466.2:c.2528G>A |
| PEX7 | Rhizomelic chondrodysplasia punctata type 1 | NM_000288.3 | NM_000288.3:c.694C>T, NM_000288.3:c.649G>A, NM_000288.3:c.618G>A, NM_000288.3:c.722A>T, NM_000288.3:c.875T>A, NM_000288.3:c.653C>T, NM_000288.3:c.854A>G, NM_000288.3:c.532C>T, NM_000288.3:c.903+1G>C |
| PHYH | Refsum disease | NM_006214.3 | NM_006214.3:c.135-2A>G, NM_006214.3:c.497-2A>G, NM_006214.3:c.135-1G>C, NM_006214.3:c.805A>C, NM_006214.3:c.678+5G>T, NM_006214.3:c.823C>T, NM_006214.3:c.530A>G, NM_006214.3:c.164delT, NM_006214.3:c.678+2T>G, NM_006214.3:c.824G>A |
| PKHD1 | Polycystic kidney disease, autosomal recessive | NM_138694.3 | NM_138694.3:c.10515C>A, NM_138694.3:c.11363_11372delCTTCCCTGGA, NM_138694.3:c.10585G>C, NM_138694.3:c.107C>T, NM_138694.3:c.10452dupT, NM_138694.3:c.2452C>T, NM_138694.3:c.2747A>C, NM_138694.3:c.12027C>G, NM_138694.3:c.11284C>A, NM_138694.3:c.3367G>A, NM_138694.3:c.353delG, NM_138694.3:c.2827_2828delGA, NM_138694.3:c.2854G>A, NM_138694.3:c.1342G>C, NM_138694.3:c.1409G>A, NM_138694.3:c.11611T>C, NM_138694.3:c.3761_3762delCCinsG, NM_138694.3:c.2414C>T, NM_138694.3:c.5895_5896insA, NM_138694.3:c.5895dupA, NM_138694.3:c.6499C>T, NM_138694.3:c.664A>G, NM_138694.3:c.682A>G, NM_138694.3:c.6854G>A, NM_138694.3:c.370C>T, NM_138694.3:c.8407T>C, NM_138694.3:c.3766delC, NM_138694.3:c.3940delA, NM_138694.3:c.1486C>T, NM_138694.3:c.2341C>T, NM_138694.3:c.10219C>T, NM_138694.3:c.9107T>G, NM_138694.3:c.930delC, NM_138694.3:c.9370C>T, NM_138694.3:c.9530T>C, NM_138694.3:c.9689delA, NM_138694.3:c.982C>T, NM_138694.3:c.9866G>T, NM_138694.3:c.10036T>C, NM_138694.3:c.3229-2A>C, NM_138694.3:c.4870C>T, NM_138694.3:c.4165C>A, NM_138694.3:c.9719G>A, NM_138694.3:c.5325_5326delAG, NM_138694.3:c.5498C>T, NM_138694.3:c.8824C>T, NM_138694.3:c.85G>T, NM_138694.3:c.10412T>G, NM_138694.3:c.8518C>T, NM_138694.3:c.8408G>A, NM_138694.3:c.8317G>T, NM_138694.3:c.8870T>C |
| PKLR | Hemolytic anemia due to red cell pyruvate kinase deficiency | NM_000298.5 | NM_000298.5:c.1151C>T, NM_000298.5:c.1706G>A, NM_000298.5:c.1529G>A, NM_000298.5:c.1528C>T, NM_000298.5:c.1595G>A, NM_000298.5:c.721G>T, NM_000298.5:c.1076G>A, NM_000298.5:c.1675C>T, NM_000298.5:c.1261C>A, NM_000298.5:c.1436G>A, NM_000298.5:c.1456C>T |
| PLCE1 | Nephrotic syndrome type 3 | NM_016341.3 | NM_016341.3:c.3346C>T, NM_016341.3:c.4808delA, NM_016341.3:c.3846delG, NM_016341.3:c.3736C>T, NM_016341.3:c.5560C>T, NM_016341.3:c.4451C>T, NM_016341.3:c.5669C>T, NM_016341.3:c.961C>T |
| PLG | Congenital plasminogen deficiency type 1 | NM_000301.3 | NM_000301.3:c.704G>A, NM_000301.3:c.1848G>A, NM_000301.3:c.1435G>T, NM_000301.3:c.693_695delGAA, NM_000301.3:c.1120G>T, NM_000301.3:c.112A>G |
| PMM2 | Congenital disorders of glycosylation type 1a | NM_000303.2 | NM_000303.2:c.349G>C, NM_000303.2:c.357C>A, NM_000303.2:c.255+2T>C, NM_000303.2:c.127G>C, NM_000303.2:c.395T>C, NM_000303.2:c.415G>A, NM_000303.2:c.368G>A, NM_000303.2:c.385G>A, NM_000303.2:c.470T>C, NM_000303.2:c.484C>T, NM_000303.2:c.422G>A, NM_000303.2:c.442G>A, NM_000303.2:c.623G>C, NM_000303.2:c.647A>T, NM_000303.2:c.652C>G, NM_000303.2:c.323C>T, NM_000303.2:c.677C>G, NM_000303.2:c.691G>A, NM_000303.2:c.710C>G, NM_000303.2:c.669C>G, NM_000303.2:c.95_96delTAinsGC, NM_000303.2:c.95T>G, NM_000303.2:c.53C>G, NM_000303.2:c.710C>T, NM_000303.2:c.620T>C, NM_000303.2:c.97C>T, NM_000303.2:c.193G>T, NM_000303.2:c.338C>T, NM_000303.2:c.563A>G, NM_000303.2:c.131T>C, NM_000303.2:c.26G>A, NM_000303.2:c.109C>T, NM_000303.2:c.317A>T, NM_000303.2:c.190delT, NM_000303.2:c.256-1G>C |
| POLG | Mitochondrial DNA depletion syndrome, Alpers type | NM_002693.2 | NM_002693.2:c.2617G>T, NM_002693.2:c.1120C>T, NM_002693.2:c.830A>T, NM_002693.2:c.3218C>T, NM_002693.2:c.3630dupC |
| POLG | Progressive external ophthalmoplegia | NM_002693.2 | NM_002693.2:c.1437C>G, NM_002693.2:c.2591A>G, NM_002693.2:c.1754G>A, NM_002693.2:c.1399G>A, NM_002693.2:c.1491G>C, NM_002693.2:c.3151G>C, NM_002693.2:c.803G>C, NM_002693.2:c.3286C>T, NM_002693.2:c.2794C>T, NM_002693.2:c.752C>T, NM_002693.2:c.3644-1G>A, NM_002693.2:c.1879C>T, NM_002693.2:c.2605C>T, NM_002693.2:c.911T>G, NM_002693.2:c.1760C>T, NM_002693.2:c.2542G>A, NM_002693.2:c.1550G>T, NM_002693.2:c.2557C>T, NM_002693.2:c.2207A>G, NM_002693.2:c.2243G>C, NM_002693.2:c.2209G>C |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A3 | NM_017739.3 | NM_017739.3:c.1425G>A, NM_017739.3:c.1545delC, NM_017739.3:c.1274G>C, NM_017739.3:c.1864delC, NM_017739.3:c.1411A>T, NM_017739.3:c.1469G>A, NM_017739.3:c.1539+1G>A, NM_017739.3:c.92dupA, NM_017739.3:c.1539+1G>T, NM_017739.3:c.932G>A, NM_017739.3:c.794G>A, NM_017739.3:c.880-1G>A, NM_017739.3:c.652+1G>A, NM_017739.3:c.931C>T, NM_017739.3:c.1666G>A, NM_017739.3:c.1814G>C, NM_017739.3:c.636C>T, NM_017739.3:c.187C>T |
| POMT1 | Congenital muscular dystrophy with intellectual disability type B1 | NM_007171.3 | NM_007171.3:c.598G>C, NM_007171.3:c.193G>A, NM_007171.3:c.1770G>C, NM_007171.3:c.2005G>A, NM_007171.3:c.2163C>A, NM_007171.3:c.1746G>C, NM_007171.3:c.793C>T |
| POMT1 | Walker-Warburg syndrome | NM_007171.3 | NM_007171.3:c.1540C>T, NM_007171.3:c.226G>A, NM_007171.3:c.1611C>G, NM_007171.3:c.1242-2A>G, NM_007171.3:c.907C>T, NM_007171.3:c.2163_2164insG, NM_007171.3:c.2167dupG, NM_007171.3:c.1153C>T, NM_007171.3:c.1261_1262insC, NM_007171.3:c.831C>G, NM_007171.3:c.1545C>G, NM_007171.3:c.1280_1281delAGinsTC |
| POMT2 | Congenital muscular dystrophy with intellectual disability type A2 | NM_013382.5 | NM_013382.5:c.2243G>C, NM_013382.5:c.1997A>G, NM_013382.5:c.2242T>C, NM_013382.5:c.1445G>T, NM_013382.5:c.2177G>A, NM_013382.5:c.1238G>C, NM_013382.5:c.1941G>A, NM_013382.5:c.1057G>A, NM_013382.5:c.551C>T |
| POMT2 | Walker-Warburg syndrome | NM_013382.5 | NM_013382.5:c.1726-2A>G, NM_013382.5:c.1417C>T, NM_013382.5:c.1912C>T, NM_013382.5:c.1608_1609delCA, NM_013382.5:c.1045_1052delinsG |
| PPT1 | Neuronal ceroid-lipofuscinoses type 1 | NM_000310.3 | NM_000310.3:c.29T>A, NM_000310.3:c.223A>C, NM_000310.3:c.627+1G>T, NM_000310.3:c.169_170insA, NM_000310.3:c.451C>T, NM_000310.3:c.541G>T, NM_000310.3:c.840_841insA |
| PRODH | Hyperprolinemia type 1 | NM_016335.4 | NM_016335.4:c.865T>A, NM_016335.4:c.1331G>A |
| PROM1 | Retinitis pigmentosa type 41 | NM_006017.2 | NM_006017.2:c.1841delG, NM_006017.2:c.1354_1355insT, NM_006017.2:c.1726C>T, NM_006017.2:c.199C>T, NM_006017.2:c.2490-2A>G, NM_006017.2:c.1177_1178delAT |
| PYGM | McArdle disease | NM_005609.2 | NM_005609.2:c.1628A>C, NM_005609.2:c.1466C>G, NM_005609.2:c.1094C>T, NM_005609.2:c.1827G>A, NM_005609.2:c.13_14delCT, NM_005609.2:c.1A>G, NM_005609.2:c.2009C>T, NM_005609.2:c.2128_2130delTTC, NM_005609.2:c.393delG, NM_005609.2:c.2392T>C, NM_005609.2:c.148C>T, NM_005609.2:c.1621G>T, NM_005609.2:c.613G>A, NM_005609.2:c.1963G>A, NM_005609.2:c.2262delA, NM_005609.2:c.1722T>G, NM_005609.2:c.255C>A, NM_005609.2:c.280C>T, NM_005609.2:c.1768+1G>A, NM_005609.2:c.501dupT, NM_005609.2:c.481C>T, NM_005609.2:c.1726C>T |
| RAG1 | Immunodeficiency severe combined B cell-negative | NM_000448.2 | NM_000448.2:c.2333G>A, NM_000448.2:c.2320G>T, NM_000448.2:c.2164G>A, NM_000448.2:c.940C>T, NM_000448.2:c.2814T>G, NM_000448.2:c.2923C>T, NM_000448.2:c.2326C>T |
| RAG1 | Omenn syndrome | NM_000448.2 | NM_000448.2:c.983G>A, NM_000448.2:c.3016A>G, NM_000448.2:c.256_257delAA, NM_000448.2:c.1682G>A, NM_000448.2:c.1681C>T |
| RAPSN | Congenital myasthenic syndrome | NM_005055.4 | NM_005055.4:c.484G>A, NM_005055.4:c.264C>A, NM_005055.4:c.807C>A, NM_005055.4:c.848T>C, NM_005055.4:c.490C>T, NM_005055.4:c.603C>A |
| RAPSN | Fetal akinesia deformation sequence | NM_005055.4 | NM_005055.4:c.416T>C, NM_005055.4:c.566C>T |
| RAX | Isolated microphthalmia type 3 | NM_013435.2 | NM_013435.2:c.909C>G, NM_013435.2:c.18C>A, NM_013435.2:c.197G>C, NM_013435.2:c.439C>T, NM_013435.2:c.383_384delAG |
| RDH12 | Leber congenital amaurosis type 13 | NM_152443.2 | NM_152443.2:c.184C>T, NM_152443.2:c.146C>T, NM_152443.2:c.152T>A, NM_152443.2:c.451C>A, NM_152443.2:c.295C>A, NM_152443.2:c.377C>T, NM_152443.2:c.379G>T, NM_152443.2:c.565C>T, NM_152443.2:c.677A>G, NM_152443.2:c.805_809delGCCCT, NM_152443.2:c.164C>T, NM_152443.2:c.210dupC, NM_152443.2:c.448+1_448+4delGTAA, NM_152443.2:c.451C>G, NM_152443.2:c.464C>T, NM_152443.2:c.523T>C |
| RGR | Retinitis pigmentosa type 44 | NM_001012720.1 | NM_001012720.1:c.196A>C, NM_001012720.1:c.249_250insGGCTCGGA, NM_001012720.1:c.261_262insGGCTCGGA, NM_001012720.1:c.454C>A, NM_001012720.1:c.865C>T, NM_001012720.1:c.877C>T |
| RHO | Retinitis pigmentosa type 4 | NM_000539.3 | NM_000539.3:c.152G>C, NM_000539.3:c.173C>T, NM_000539.3:c.448G>A, NM_000539.3:c.620T>G, NM_000539.3:c.670G>A, NM_000539.3:c.745G>T, NM_000539.3:c.659T>G |
| RLBP1 | Retinitis punctata albescens | NM_000326.4 | NM_000326.4:c.333T>G, NM_000326.4:c.452G>A, NM_000326.4:c.700C>T, NM_000326.4:c.875C>T |
| RPE65 | Leber congenital amaurosis type 2 | NM_000329.2 | NM_000329.2:c.1067delA, NM_000329.2:c.1301C>T, NM_000329.2:c.1292A>G, NM_000329.2:c.272G>A, NM_000329.2:c.907A>T, NM_000329.2:c.514_515delGT |
| RPE65 | Retinitis pigmentosa type 20 | NM_000329.2 | NM_000329.2:c.1022T>C, NM_000329.2:c.1087C>A, NM_000329.2:c.1102T>C, NM_000329.2:c.271C>T, NM_000329.2:c.1355T>G, NM_000329.2:c.1543C>T, NM_000329.2:c.394G>A, NM_000329.2:c.881A>C |
| RPGRIP1L | Joubert syndrome type 7 | NM_015272.2 | NM_015272.2:c.1177G>A, NM_015272.2:c.1326_1329delAAAA, NM_015272.2:c.1329_1330insA, NM_015272.2:c.1843A>C, NM_015272.2:c.1975T>C, NM_015272.2:c.2030C>T, NM_015272.2:c.2050C>T, NM_015272.2:c.2413C>T, NM_015272.2:c.757C>T, NM_015272.2:c.3548C>G, NM_015272.2:c.697A>T, NM_015272.2:c.3634_3637delGAAA, NM_015272.2:c.776+1G>A, NM_015272.2:c.2794_2795delTT |
| RPGRIP1L | Meckel syndrome type 5 | NM_015272.2 | NM_015272.2:c.394A>T, NM_015272.2:c.3706C>T, NM_015272.2:c.2614C>T |
| RYR1 | Central core disease | NM_000540.2 | NM_000540.2:c.1021G>A, NM_000540.2:c.10343C>T, NM_000540.2:c.10579C>T, NM_000540.2:c.10616G>A, NM_000540.2:c.11798A>G, NM_000540.2:c.1205T>C, NM_000540.2:c.13480G>T, NM_000540.2:c.13513G>C, NM_000540.2:c.14365-2A>T, NM_000540.2:c.14511+1_14511+2delGT, NM_000540.2:c.14545G>A, NM_000540.2:c.1739_1742dupATCA, NM_000540.2:c.1841G>T, NM_000540.2:c.325C>T, NM_000540.2:c.4076delG, NM_000540.2:c.4178A>G, NM_000540.2:c.4405C>T, NM_000540.2:c.487C>T, NM_000540.2:c.5036G>A, NM_000540.2:c.5333C>A, NM_000540.2:c.5726_5727delAG, NM_000540.2:c.6082C>T, NM_000540.2:c.6104A>T, NM_000540.2:c.631+2T>C, NM_000540.2:c.6961A>G, NM_000540.2:c.7025A>G, NM_000540.2:c.7268T>A, NM_000540.2:c.7300G>A, NM_000540.2:c.7360C>T, NM_000540.2:c.7373G>A, NM_000540.2:c.738T>G, NM_000540.2:c.7463_7475delCAAAGATGTCAGC, NM_000540.2:c.9000+1G>T, NM_000540.2:c.14126C>T, NM_000540.2:c.1655G>A, NM_000540.2:c.4729G>A, NM_000540.2:c.7781C>A, NM_000540.2:c.7836-1G>A, NM_000540.2:c.8360C>G, NM_000540.2:c.9868G>A, NM_000540.2:c.9905_9906insC, NM_000540.2:c.1186G>T, NM_000540.2:c.6721C>T |
| SACS | Spastic ataxia, Charlevoix-Saguenay type | NM_014363.5 | NM_014363.5:c.10907G>A, NM_014363.5:c.10954C>A, NM_014363.5:c.11624G>A, NM_014363.5:c.12160C>T, NM_014363.5:c.517C>T, NM_014363.5:c.6355C>T, NM_014363.5:c.6781C>A, NM_014363.5:c.7504C>T, NM_014363.5:c.8107C>T, NM_014363.5:c.8844delT, NM_014363.5:c.994A>T, NM_014363.5:c.13237C>T, NM_014363.5:c.3198T>A, NM_014363.5:c.4933C>T, NM_014363.5:c.5618_5619delAT, NM_014363.5:c.6563T>A |
| SAG | Oguchi disease | NM_000541.4 | NM_000541.4:c.293_294insG, NM_000541.4:c.523C>T, NM_000541.4:c.577C>T, NM_000541.4:c.874C>T, NM_000541.4:c.916G>T, NM_000541.4:c.926delA, NM_000541.4:c.993C>G |
| SBDS | Shwachman-Diamond syndrome | NM_016038.2 | NM_016038.2:c.120delG, NM_016038.2:c.127G>T, NM_016038.2:c.183_184delTAinsCT, NM_016038.2:c.184A>T, NM_016038.2:c.377G>C, NM_016038.2:c.505C>T, NM_016038.2:c.652C>T, NM_016038.2:c.258+2T>C |
| SCNN1B | Pseudohypoaldosteronism, type 1 | NM_000336.2 | NM_000336.2:c.109G>A |
| SCNN1G | Pseudohypoaldosteronism, type 1 | NM_001039.3 | NM_001039.3:c.1373+2T>C, NM_001039.3:c.1570-1G>A, NM_001039.3:c.1627delG, NM_001039.3:c.598_599insA |
| SERPINA1 | Alpha1-antitrypsin deficiency | NM_000295.4 | NM_000295.4:c.1177C>T, NM_000295.4:c.187C>T, NM_000295.4:c.194T>C, NM_000295.4:c.230C>T, NM_000295.4:c.250G>A, NM_000295.4:c.272G>A, NM_000295.4:c.347T>A, NM_000295.4:c.415G>A, NM_000295.4:c.514G>A, NM_000295.4:c.514G>T, NM_000295.4:c.739C>T, NM_000295.4:c.839A>T, NM_000295.4:c.1093G>A, NM_000295.4:c.848A>T |
| SETX | Spinocerebellar ataxia with axonal neuropathy type 2 | NM_015046.5 | NM_015046.5:c.1027G>T, NM_015046.5:c.1166T>C, NM_015046.5:c.1807A>G, NM_015046.5:c.2602C>T, NM_015046.5:c.3880C>T, NM_015046.5:c.4087C>T, NM_015046.5:c.5630delG, NM_015046.5:c.5927T>G, NM_015046.5:c.6848_6851delCAGA, NM_015046.5:c.994C>T, NM_015046.5:c.5308_5311delGAGA, NM_015046.5:c.5549-1G>T, NM_015046.5:c.6834_6839delAACAAA |
| SGCA | Limb-girdle muscular dystrophy type 2D | NM_000023.2 | NM_000023.2:c.101G>A, NM_000023.2:c.229C>T, NM_000023.2:c.371T>C, NM_000023.2:c.518T>C, NM_000023.2:c.574C>T, NM_000023.2:c.850C>T, NM_000023.2:c.662G>A, NM_000023.2:c.739G>A, NM_000023.2:c.904_905insCC |
| SGCG | Limb-girdle muscular dystrophy type 2C | NM_000231.2 | NM_000231.2:c.195+4_195+7delAGTA, NM_000231.2:c.505+1G>A, NM_000231.2:c.787G>A, NM_000231.2:c.848G>A, NM_000231.2:c.88delG, NM_000231.2:c.521delT |
| SGSH | Mucopolysaccharidosis type 3A (Sanfilippo disease type A) | NM_000199.3 | NM_000199.3:c.1167C>A, NM_000199.3:c.1298G>A, NM_000199.3:c.130G>A, NM_000199.3:c.1339G>A, NM_000199.3:c.1380delT, NM_000199.3:c.197C>G, NM_000199.3:c.220C>T, NM_000199.3:c.235A>C, NM_000199.3:c.320delT, NM_000199.3:c.337_345delinsGCACAGGTGAG, NM_000199.3:c.364G>A, NM_000199.3:c.383C>T, NM_000199.3:c.416C>T, NM_000199.3:c.449G>A, NM_000199.3:c.466A>T, NM_000199.3:c.617G>C, NM_000199.3:c.752G>C, NM_000199.3:c.757delG, NM_000199.3:c.877C>T, NM_000199.3:c.892T>C |
| SH3TC2 | Charcot-Marie-Tooth disease type 4C | NM_024577.3 | NM_024577.3:c.1586G>A, NM_024577.3:c.1747_1748delAG, NM_024577.3:c.1969G>A, NM_024577.3:c.1972C>T, NM_024577.3:c.1982T>C, NM_024577.3:c.217_227delGCTGCTCGGAGinsCCAGTAA, NM_024577.3:c.2191delG, NM_024577.3:c.2491_2492delAG, NM_024577.3:c.2710C>T, NM_024577.3:c.2829T>G, NM_024577.3:c.2860C>T, NM_024577.3:c.28delG, NM_024577.3:c.2993_2994insC, NM_024577.3:c.3325C>T, NM_024577.3:c.3326G>C, NM_024577.3:c.3341delC, NM_024577.3:c.3601C>T, NM_024577.3:c.3686A>T, NM_024577.3:c.505T>C, NM_024577.3:c.52+1delG, NM_024577.3:c.530-2A>G, NM_024577.3:c.735G>A, NM_024577.3:c.920G>A, NM_024577.3:c.3676-1G>A, NM_024577.3:c.1724T>A, NM_024577.3:c.53-1G>C |
| SLC12A1 | Bartter syndrome type 1 | NM_000338.2 | NM_000338.2:c.1875G>A, NM_000338.2:c.1942G>A, NM_000338.2:c.2805_2806insA, NM_000338.2:c.347G>A, NM_000338.2:c.611T>C, NM_000338.2:c.628+2T>C, NM_000338.2:c.814G>T, NM_000338.2:c.223C>T, NM_000338.2:c.2952_2955delCAAA |
| SLC17A5 | Sialic acid storage disease | NM_012434.4 | NM_012434.4:c.115C>T, NM_012434.4:c.406A>G, NM_012434.4:c.43G>T, NM_012434.4:c.918T>G, NM_012434.4:c.1259+1G>A, NM_012434.4:c.500T>C |
| SLC24A1 | Night blindness, congenital stationary type 1D | NM_004727.2 | NM_004727.2:c.1963C>T |
| SLC26A2 | Achondrogenesis type 1B | NM_000112.3 | NM_000112.3:c.1020_1022delTGT, NM_000112.3:c.1273A>G, NM_000112.3:c.532C>T, NM_000112.3:c.2033G>T |
| SLC26A2 | Atelosteogenesis type 2 | NM_000112.3 | NM_000112.3:c.1535C>A, NM_000112.3:c.835C>T |
| SLC26A2 | Diastrophic dysplasia | NM_000112.3 | NM_000112.3:c.1724delA, NM_000112.3:c.1878delG, NM_000112.3:c.1361A>C, NM_000112.3:c.767T>C, NM_000112.3:c.833delC, NM_000112.3:c.496G>A, NM_000112.3:c.1957T>A |
| SLC26A4 | Deafness type 4, autosomal recessive | NM_000441.1 | NM_000441.1:c.1001G>T, NM_000441.1:c.1034T>A, NM_000441.1:c.2162C>T, NM_000441.1:c.1975G>C, NM_000441.1:c.1174A>T, NM_000441.1:c.2131G>A, NM_000441.1:c.1454C>T, NM_000441.1:c.1468A>C, NM_000441.1:c.2211G>C, NM_000441.1:c.269C>T, NM_000441.1:c.916dupG, NM_000441.1:c.281C>T, NM_000441.1:c.1634T>G, NM_000441.1:c.1707+5G>A, NM_000441.1:c.1489G>A, NM_000441.1:c.961A>T, NM_000441.1:c.2048T>C, NM_000441.1:c.898A>C, NM_000441.1:c.918+2T>C, NM_000441.1:c.1001+1G>T, NM_000441.1:c.970A>T, NM_000441.1:c.563T>C |
| SLC26A4 | Pendred syndrome | NM_000441.1 | NM_000441.1:c.1246A>C, NM_000441.1:c.1826T>G, NM_000441.1:c.1229C>T, NM_000441.1:c.1263+1G>A, NM_000441.1:c.1061T>C, NM_000441.1:c.1790T>C, NM_000441.1:c.2168A>G, NM_000441.1:c.1151A>G, NM_000441.1:c.1226G>A, NM_000441.1:c.1003T>C, NM_000441.1:c.919-2A>G, NM_000441.1:c.554G>C, NM_000441.1:c.626G>T, NM_000441.1:c.1334T>G, NM_000441.1:c.1198delT, NM_000441.1:c.412G>T, NM_000441.1:c.707T>C |
| SLC37A4 | Glycogen storage disease types 1b, 1c and 1d | NM_001164278.1 | NM_001164278.1:c.1042_1043delCT, NM_001164278.1:c.1081G>T, NM_001164278.1:c.1082G>A, NM_001164278.1:c.1108_1109delCT, NM_001164278.1:c.1129G>T, NM_001164278.1:c.1190-2_1190-1delAG, NM_001164278.1:c.1309C>T, NM_001164278.1:c.287G>A, NM_001164278.1:c.352T>C, NM_001164278.1:c.593A>T, NM_001164278.1:c.706_708delGTG, NM_001164278.1:c.83G>A, NM_001164278.1:c.899G>A |
| SLC4A11 | Congenital hereditary endothelial dystrophy type 2 | NM_032034.3 | NM_032034.3:c.1038_1039insA, NM_032034.3:c.1391G>A, NM_032034.3:c.2318C>T, NM_032034.3:c.1466C>T, NM_032034.3:c.1813C>T, NM_032034.3:c.2264G>A, NM_032034.3:c.2605C>T, NM_032034.3:c.2399C>T, NM_032034.3:c.554_561delGCTTCGCC, NM_032034.3:c.2606G>A |
| SLC4A11 | Corneal dystrophy and perceptive deafness | NM_032034.3 | NM_032034.3:c.2528T>C, NM_032034.3:c.1463G>A, NM_032034.3:c.473_480delGCTTCGCC, NM_032034.3:c.2566A>G, NM_032034.3:c.637T>C, NM_032034.3:c.625C>T, NM_032034.3:c.2224G>A, NM_032034.3:c.2240_2240+1insTATGACAC |
| SLX4 | Fanconi anemia, complementation group P | NM_032444.2 | NM_032444.2:c.1093delC, NM_032444.2:c.286delA, NM_032444.2:c.4921_4922insG, NM_032444.2:c.5097_5098delTC, NM_032444.2:c.5408_5409insAC, NM_032444.2:c.4739+1G>T, NM_032444.2:c.2808_2809delAG |
| SMN1 | Spinal muscular atrophy | - | del ex7, del ex7-8, del ex8 (Detection by MLPA) |
| SMPD1 | Niemann-Pick disease | NM_000543.4 | NM_000543.4:c.103_118delCTGGTGCTGGCGCTGG, NM_000543.4:c.103_119delCTGGTGCTGGCGCTGGC, NM_000543.4:c.103_107delCTGGT, NM_000543.4:c.103_113delCTGGTGCTGGCGinsCTGGTG, NM_000543.4:c.1092-1G>C, NM_000543.4:c.1117C>T, NM_000543.4:c.106delG, NM_000543.4:c.108_124delGCTGGCGCTGGCGCTGGC, NM_000543.4:c.1267C>T, NM_000543.4:c.1299T>G, NM_000543.4:c.1327C>T, NM_000543.4:c.1420_1421delCT, NM_000543.4:c.1426C>T, NM_000543.4:c.1624C>T, NM_000543.4:c.1630delA, NM_000543.4:c.1805G>A, NM_000543.4:c.354delC, NM_000543.4:c.475T>C, NM_000543.4:c.551C>T, NM_000543.4:c.557C>T, NM_000543.4:c.558_559insC, NM_000543.4:c.558_574delGCCCCCCAAACCCCCTA, NM_000543.4:c.564delC, NM_000543.4:c.573delT, NM_000543.4:c.689G>A, NM_000543.4:c.730G>A, NM_000543.4:c.739G>A, NM_000543.4:c.740delG, NM_000543.4:c.742G>A, NM_000543.4:c.757G>C, NM_000543.4:c.785_807delTGTTGAGTGGGCTGGGCCCAGCC, NM_000543.4:c.788T>A, NM_000543.4:c.842_849dupTCCCCGCA, NM_000543.4:c.911T>C, NM_000543.4:c.940G>A, NM_000543.4:c.96G>A, NM_000543.4:c.996delC, NM_000543.4:c.688C>T, NM_000543.4:c.995C>G, NM_000543.4:c.1829_1831delGCC, NM_000543.4:c.1264-1G>T, NM_000543.4:c.1152G>A |
| SPG11 | Spastic paraplegia type 11 | NM_025137.3 | NM_025137.3:c.118C>T, NM_025137.3:c.529_533delATATT, NM_025137.3:c.5623C>T, NM_025137.3:c.1339_1342dupGGCT, NM_025137.3:c.342delT, NM_025137.3:c.7152-1G>C, NM_025137.3:c.733_734delAT, NM_025137.3:c.6805_6806delCT, NM_025137.3:c.1736-1G>C, NM_025137.3:c.6100C>T, NM_025137.3:c.6848_6849insTC |
| SPG7 | Spastic paraplegia type 7 | NM_003119.3 | NM_003119.3:c.1457G>A, NM_003119.3:c.1529C>T, NM_003119.3:c.2075G>C, NM_003119.3:c.233T>A, NM_003119.3:c.1676delA, NM_003119.3:c.1749G>C, NM_003119.3:c.773_774delTG, NM_003119.3:c.1045G>A, NM_003119.3:c.1124delG, NM_003119.3:c.679C>T, NM_003119.3:c.758+2T>C, NM_003119.3:c.286+1G>T |
| STRC | Deafness type 16, autosomal recessive | NM_153700.2 | NM_153700.2:c.4561_4562insC, NM_153700.2:c.5188C>T, NM_153700.2:c.3556C>T, NM_153700.2:c.5168_5171delTTCT, NM_153700.2:c.5185C>T, NM_153700.2:c.4545+1G>C |
| TCAP | Cardiomyopathy, hypertrophic, type 25 | NM_003673.3 | NM_003673.3:c.260G>A, NM_003673.3:c.316C>T |
| TCAP | Limb-girdle muscular dystrophy type 2G | NM_003673.3 | NM_003673.3:c.157C>T |
| TCIRG1 | Osteopetrosis type 1, autosomal recessive | NM_006019.3 | NM_006019.3:c.1331G>T, NM_006019.3:c.1674-1G>A, NM_006019.3:c.179A>G, NM_006019.3:c.2236+1G>A, NM_006019.3:c.2415-3C>G, NM_006019.3:c.112_113delAG, NM_006019.3:c.1213G>A |
| TERT | Dyskeratosis congenita, autosomal recessive | NM_198253.2 | NM_198253.2:c.1234C>T, NM_198253.2:c.835G>A, NM_198253.2:c.2701C>T, NM_198253.2:c.2431C>T |
| TFR2 | Hemochromatosis, type 3 | NM_003227.3 | NM_003227.3:c.1330G>A, NM_003227.3:c.1403G>A, NM_003227.3:c.1469T>G, NM_003227.3:c.1235_1237delACA, NM_003227.3:c.1861_1872delGCCGTGGCCCAG, NM_003227.3:c.2343G>A, NM_003227.3:c.313C>T, NM_003227.3:c.1665delC, NM_003227.3:c.750C>G, NM_003227.3:c.840C>G, NM_003227.3:c.949C>T, NM_003227.3:c.515T>A, NM_003227.3:c.1632_1633delGA, NM_003227.3:c.2014C>T, NM_003227.3:c.2374G>A, NM_003227.3:c.1473+1G>A, NM_003227.3:c.1186C>T |
| TK2 | Mitochondrial DNA depletion syndrome type 2 | NM_004614.4 | NM_004614.4:c.323C>T, NM_004614.4:c.361C>A, NM_004614.4:c.373C>T, NM_004614.4:c.500G>A, NM_004614.4:c.604_606delAAG, NM_004614.4:c.635T>A, NM_004614.4:c.623A>G, NM_004614.4:c.159C>G, NM_004614.4:c.268C>T |
| TMEM67 | COACH syndrome | NM_153704.5 | NM_153704.5:c.1769T>C, NM_153704.5:c.2498T>C |
| TMEM67 | Joubert syndrome type 6 | NM_153704.5 | NM_153704.5:c.130C>T, NM_153704.5:c.148_149insTAAT, NM_153704.5:c.1538A>G |
| TMEM67 | Meckel syndrome type 3 | NM_153704.5 | NM_153704.5:c.1309C>G, NM_153704.5:c.755T>C, NM_153704.5:c.1046T>C, NM_153704.5:c.653G>C, NM_153704.5:c.406+1402_406+1403insTAAT, NM_153704.5:c.622A>T |
| TMPRSS3 | Deafness types 8/10, autosomal recessive | NM_024022.2 | NM_024022.2:c.1211C>T, NM_024022.2:c.1276G>A, NM_024022.2:c.1159G>A, NM_024022.2:c.413C>A, NM_024022.2:c.446+1G>T, NM_024022.2:c.647G>T, NM_024022.2:c.753G>C, NM_024022.2:c.646C>T, NM_024022.2:c.208delC, NM_024022.2:c.242C>G |
| TPP1 | Neuronal ceroid-lipofuscinoses type 2 | NM_000391.3 | NM_000391.3:c.1093T>C, NM_000391.3:c.616C>T, NM_000391.3:c.622C>T, NM_000391.3:c.1340G>A, NM_000391.3:c.141_144delGAGT, NM_000391.3:c.827A>T, NM_000391.3:c.509-1G>C, NM_000391.3:c.851G>T |
| TRIOBP | Deafness type 28, autosomal recessive | NM_001039141.2 | NM_001039141.2:c.2362C>T, NM_001039141.2:c.3194delT, NM_001039141.2:c.1039C>T, NM_001039141.2:c.1741C>T, NM_001039141.2:c.4577C>G, NM_001039141.2:c.2639_2640insTCAC, NM_001039141.2:c.5316G>A, NM_001039141.2:c.3202C>T, NM_001039141.2:c.4429_4430insG |
| TSEN54 | Pontocerebellar hypoplasia | NM_207346.2 | NM_207346.2:c.670_671delAA, NM_207346.2:c.736C>T, NM_207346.2:c.1027C>T, NM_207346.2:c.1039A>T, NM_207346.2:c.887G>A, NM_207346.2:c.919G>T |
| TSFM | Combined oxidative phosphorylation deficiency type 3 | NM_001172696.1 | NM_001172696.1:c.1_2delAT, NM_001172696.1:c.580delC, NM_001172696.1:c.919C>T, NM_001172696.1:c.21_22delGC |
| TSHR | Hypothyroidism | NM_000369.2 | NM_000369.2:c.100G>A, NM_000369.2:c.1170T>G, NM_000369.2:c.484C>G, NM_000369.2:c.500T>A, NM_000369.2:c.122G>C, NM_000369.2:c.326G>A, NM_000369.2:c.1741_1742insC, NM_000369.2:c.202C>T |
| TTN | Cardiomyopathy, dilated/Tibial muscular dystrophy | NM_133378.4 | NM_133378.4:c.13149C>A, NM_133378.4:c.22246G>A, NM_133378.4:c.31780G>A, NM_133378.4:c.40211dupT, NM_133378.4:c.44668delG, NM_133378.4:c.52977dupT, NM_133378.4:c.61640C>G, NM_133378.4:c.84669_84675delTGAATTC, NM_133378.4:c.94567C>T, NM_133378.4:c.96388C>T, NM_133378.4:c.96388delC, NM_133378.4:c.98366_98367delAT, NM_133378.4:c.12064C>T, NM_133378.4:c.28739-1G>A, NM_133378.4:c.3165-1G>T, NM_133378.4:c.4724_4728delTGAAA, NM_133378.4:c.48944-1G>A, NM_133378.4:c.91114_91117delTCCA, NM_133378.4:c.100185delA, NM_133378.4:c.40549delA, NM_133378.4:c.24568_24571delAGCA |
| TTPA | Ataxia with vitamin E deficiency | NM_000370.3 | NM_000370.3:c.661C>T, NM_000370.3:c.744delA, NM_000370.3:c.575G>A |
| TYR | Oculocutaneous albinism type 1 | NM_000372.4 | NM_000372.4:c.1012_1013insC, NM_000372.4:c.1146C>A, NM_000372.4:c.1164delT, NM_000372.4:c.1177delG, NM_000372.4:c.1147G>A, NM_000372.4:c.115T>G, NM_000372.4:c.1255G>A, NM_000372.4:c.1265G>A, NM_000372.4:c.1209G>T, NM_000372.4:c.1217C>T, NM_000372.4:c.140G>A, NM_000372.4:c.1467dupT, NM_000372.4:c.1501dupC, NM_000372.4:c.164G>A, NM_000372.4:c.1A>G, NM_000372.4:c.230G>A, NM_000372.4:c.242C>T, NM_000372.4:c.265T>C, NM_000372.4:c.272G>A, NM_000372.4:c.286dupA, NM_000372.4:c.533G>A, NM_000372.4:c.1336G>A, NM_000372.4:c.1342G>A, NM_000372.4:c.646T>A, NM_000372.4:c.650G>A, NM_000372.4:c.823G>T, NM_000372.4:c.896G>A, NM_000372.4:c.1111A>G, NM_000372.4:c.1118C>A, NM_000372.4:c.325G>A, NM_000372.4:c.572delG, NM_000372.4:c.616G>A |
| TYRP1 | Oculocutaneous albinism type 3 | NM_000550.2 | NM_000550.2:c.107delT, NM_000550.2:c.1103delA, NM_000550.2:c.1057_1060delAACA, NM_000550.2:c.1067G>A, NM_000550.2:c.1557T>G, NM_000550.2:c.176C>G, NM_000550.2:c.497C>G, NM_000550.2:c.1120C>T, NM_000550.2:c.1369_1370insCAGA |
| UGT1A1 | Crigler-Najjar syndrome type 1 | NM_000463.2 | NM_000463.2:c.1021C>T, NM_000463.2:c.1070A>G |
| UGT1A1 | Crigler-Najjar syndrome type 2 | NM_000463.2 | NM_000463.2:c.1207C>T, NM_000463.2:c.674T>G, NM_000463.2:c.1130G>T, NM_000463.2:c.524T>A, NM_000463.2:c.44T>G |
| UGT1A1 | Gilbert syndrome | NM_000463.2 | NM_000463.2:c.1211T>C, NM_000463.2:c.1456T>G |
| USH1C | Usher syndrome type 1C | NM_153676.3 | NM_153676.3:c.216G>A, NM_153676.3:c.2362G>A, NM_153676.3:c.2622_2623delCA, NM_153676.3:c.2688_2695dupAATTCACC, NM_153676.3:c.238_239insC, NM_153676.3:c.238delC, NM_153676.3:c.2547-1G>T, NM_153676.3:c.2695_2696insAATTCACC, NM_153676.3:c.388G>A |
| USH2A | Retinitis pigmentosa type 39 | NM_206933.2 | NM_206933.2:c.10073G>A, NM_206933.2:c.2296T>C, NM_206933.2:c.14519T>C, NM_206933.2:c.7364G>A, NM_206933.2:c.12574C>T, NM_206933.2:c.2276G>T |
| USH2A | Usher syndrome type 2A | NM_206933.2 | NM_206933.2:c.10636G>A, NM_206933.2:c.10561T>C, NM_206933.2:c.15371delT, NM_206933.2:c.2167+5G>A, NM_206933.2:c.11864G>A, NM_206933.2:c.14803C>T, NM_206933.2:c.2898delG, NM_206933.2:c.3491_3492delCT, NM_206933.2:c.11549-5_11549-4insT, NM_206933.2:c.2299delG, NM_206933.2:c.5975A>G, NM_206933.2:c.6670G>T, NM_206933.2:c.6862G>T, NM_206933.2:c.5743_5744delAG, NM_206933.2:c.779T>G, NM_206933.2:c.820C>T, NM_206933.2:c.8981G>A, NM_206933.2:c.956G>A, NM_206933.2:c.9799T>C, NM_206933.2:c.15089C>A, NM_206933.2:c.2135delC, NM_206933.2:c.4338_4339delCT, NM_206933.2:c.5573-2A>G, NM_206933.2:c.920_923dupGCCA, NM_206933.2:c.13709delG, NM_206933.2:c.14926G>A, NM_206933.2:c.15520-1G>A, NM_206933.2:c.8431C>A, NM_206933.2:c.12234_12235delGA, NM_206933.2:c.14442C>A |
| WFS1 | Wolfram syndrome | NM_006005.3 | NM_006005.3:c.1234_1237delGTCT, NM_006005.3:c.1511C>T, NM_006005.3:c.2168T>C, NM_006005.3:c.2171C>T, NM_006005.3:c.1944G>A, NM_006005.3:c.2084G>T, NM_006005.3:c.577A>C, NM_006005.3:c.676C>T, NM_006005.3:c.2327A>T, NM_006005.3:c.407_408insGGGCCGTCGCGAGGCT, NM_006005.3:c.2576G>A, NM_006005.3:c.2643_2644delCT, NM_006005.3:c.616C>T, NM_006005.3:c.1060_1062delTTC, NM_006005.3:c.400G>A, NM_006005.3:c.1943G>A, NM_006005.3:c.1230_1233delCTCT |
| WNT10A | Hypohidrotic ectodermal dysplasia, autosomal recessive | NM_025216.2 | NM_025216.2:c.347T>C, NM_025216.2:c.383G>A, NM_025216.2:c.321C>A |
| WNT10A | Odontoonychodermal dysplasia | NM_025216.2 | NM_025216.2:c.697G>T |
| ZFYVE26 | Spastic paraplegia type 15, autosomal recessive | NM_015346.3 | NM_015346.3:c.3206G>A, NM_015346.3:c.3642_3643insCCACACTTAG, NM_015346.3:c.1477C>T, NM_015346.3:c.2887G>C, NM_015346.3:c.5422C>T, NM_015346.3:c.5485-1G>A, NM_015346.3:c.4312C>T, NM_015346.3:c.4936C>T, NM_015346.3:c.3182delT, NM_015346.3:c.2114_2115insC |
CGT Basic
Search among the genes analyzed by CGT Basic
| Gene | Disease |
|---|---|
| CFTR | Cystic fibrosis |
| FMR1 | Fragile X syndrome |
| G6PD | Hemolytic anemia, G6PD deficient (favism) |
| GJB2 | Deafness, autosomal recessive, type 1A |
| HBA1 | Thalassemia, alpha- |
| HBA2 | Thalassemia, alpha- |
| HBB | HBB-related hemoglobinopathy |
| SMN1 | Spinal muscular atrophy |
CGT Essential
Search among the genes analyzed by CGT Essential
| Gene | Disease |
|---|---|
| ACADM | Medium-chain acyl-CoA dehydrogenase deficiency |
| AGXT | Hyperoxaluria, primary, type 1 |
| ARSA | Metachromatic leukodystrophy |
| BTD | Biotinidase deficiency |
| CBS | Homocystinuria due to cystathionine beta-synthase |
| CFTR | Cystic fibrosis |
| DHCR7 | Smith-Lemli-Opitz syndrome |
| EMD | Emery-Dreifuss muscular dystrophy, type 1, X-linked |
| FMR1 | Fragile X syndrome |
| GAA | Glycogen storage disease, type 2 |
| GALT | Galactosemia |
| GLA | Fabry disease |
| HADHA | LCHAD deficiency |
| HBB | HBB-related hemoglobinopathy |
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type |
| PAH | Phenylketonuria |
| PMM2 | Congenital disorder of glycosylation, type 1A |
| SLC26A2 | Achondrogenesis, type 1B (diastrophic dysplasia) |
| SMN1 | Spinal muscular atrophy |
