Panel extendido (Incluye CGT Basic). Incluye el análisis mediante secuenciación masiva (NGS) de 306 genes asociadas a las enfermedades de mayor prevalencia.
Características:
Genes analizados: 306
Enfermedades detectadas: 352
Porcentaje estimado de portadores*: 54,8%
Número de mutaciones por cada individuo**: 1,46
Tipo de muestra: sangre o saliva
Entrega de resultados: 20 días laborables
Evita donaciones incompatibles que podrian dar lugar al nacimiento de niños enfermos
CGT Match incluido
Todas las enfermedades recesivas ligadas al cromosoma X, solo serán analizadas en las mujeres.
| Gen | Nombre enfermedad | Herencia | Transcripto | Variantes patogenicas |
|---|---|---|---|---|
| ABCA12 | Ictiosis congénita autosómica recesiva (ICAR) tipo 4A; ICAR tipo 4B (feto arlequín) | Autosómica recesiva | NM_173076.2 | c.7444C>T;c.7323delC;c.6610C>T;c.6353C>G;c.6234-1G>C;c.5787T>G;c.5414C>G;c.5381+1G>C;c.5231G>A;c.5128+2T>C;c.5012delA;c.4615G>A;c.4541G>A;c.4142G>A;c.4139A>G;c.4108G>T;c.3889C>T;c.3256A>T;c.2593-1G>A;c.2296C>T;c.2273dupT;c.2140C>T;c.2121+2T>G;c.1660C>T;c.1657+1G>T;c.1300C>T;c.859C>T;c.596G>A;c.178C>T |
| ABCB11 | Colestasis intrahepática (CI) recurrente benigna tipo 2; CI familiar progresiva tipo 2 | Autosómica recesiva | NM_003742.2 | c.3767dupC;c.3692G>A;c.3457C>T;c.3268C>T;c.3213+1delG;c.3169C>T;c.3148C>T;c.2944G>A;c.2783_2787dupGAGAT;c.2782C>T;c.2380C>T;c.2296G>A;c.2178+1G>A;c.1966_1967delTT;c.1810-1G>A;c.1723C>T;c.1460G>A;c.1445A>G;c.1408C>T;c.1295G>C;c.1271delA;c.1069G>T;c.908+1delG;c.908+1G>A;c.890A>G;c.847G>T;c.409G>T;c.390-1G>T;c.379delA;c.167C>G;c.150+1G>A;c.22C>T |
| ABCC8 | Hipoglucemia hiperinsulinémica tipo 1 (hiperinsulinismo congénito); Diabetes mellitus neonatal permanente | Autosómica recesiva* | NM_001287174.1 | c.4631T>C;c.4618G>A;c.4567G>A;c.4556T>G;c.4548+2T>G;c.4519G>A;c.4481G>A;c.4480C>T;c.4477delG;c.4459_4460delAG;c.4454G>A;c.4454G>T;c.4453G>A;c.4435G>A;c.4415-2A>G;c.4414G>A;c.4379T>G;c.4371C>G;c.4356G>A;c.4325delC;c.4311-2A>G;c.4310G>A;c.4309C>T;c.4273A>G;c.4268C>G;c.4261C>T;c.4201G>A;c.4181G>A;c.4177T>G;c.4163_4165delTCT;c.4160_4162delCCT;c.4160C>T;c.4154_4155delAG;c.4149T>G;c.4139G>A;c.4139G>T;c.4138C>A;c.4138C>T;c.4123-1G>T;c.4122+1delG;c.4122+1G>A;c.4112C>T;c.4075_4076delAAinsT;c.4058G>A;c.4058G>C;c.4029_4030insC;c.4024C>T;c.3992-9G>A;c.3871-1G>A;c.3757-1G>A;c.3757-2A>G;c.3756+1G>A;c.3751C>T;c.3653+2T>A;c.3643C>T;c.3596C>T;c.3577delG;c.3560+1G>A;c.3560+1G>T;c.3557C>A;c.3548G>A;c.3547C>T;c.3545T>G;c.3528C>G;c.3520G>A;c.3512delT;c.3451_3452delGT;c.3403-1G>A;c.3402+1G>A;c.3127_3129delACCinsCAGCCAGGAACTG;c.3111G>A;c.3110G>A;c.2995C>T;c.2924-9G>A;c.2860C>T;c.2838_2841delGAGA;c.2800C>T;c.2698-1G>C;c.2698-2A>T;c.2697+1G>C;c.2686dupC;c.2559+1G>A;c.2509C>T;c.2298_2310delGAGAGGCCCCGTGinsAA;c.2295-1G>A;c.2258+2T>C;c.2222+1G>A;c.2222+1G>T;c.2202delA;c.2147G>T;c.2124_2127delGACT;c.2117-1G>A;c.2116+2T>C;c.2116+1G>A;c.2116+1G>T;c.2098_2099delAC;c.2041-1G>A;c.1879delC;c.1817+1G>T;c.1792C>T;c.1752delT;c.1732_1746dupGCCTCCCTCTCCCTC;c.1744C>G;c.1671+1G>C;c.1634delT;c.1630+1G>T;c.1616A>G;c.1606T>C;c.1603_1604insA;c.1562G>A;c.1536C>G;c.1532T>C;c.1468-2A>C;c.1467+2T>C;c.1467+1G>T;c.1347_1348delGA;c.1177-1G>A;c.1144G>A;c.1012-2A>G;c.823-1G>A;c.795dupG;c.742C>T;c.692G>A;c.683G>A;c.674T>C;c.638T>G;c.631C>A;c.627C>A;c.584dupA;c.579+2T>A;c.563A>G;c.560T>A;c.536_539delATGG;c.512dupT;c.415delC;c.413-2A>G;c.404T>C;c.394T>C;c.394T>G;c.331G>A;c.291-2A>G;c.290+2T>C;c.257T>C;c.257T>G;c.239T>G;c.221G>A;c.215A>G;c.149-1G>A;c.148+2T>G;c.134C>T;c.72C>A;c.62T>A |
| ABCD1 | Adrenoleucodistrofia | Ligada al X | NM_000033.3 | c.253dupC;c.311G>A;c.320T>C;c.346G>A;c.421G>A;c.442A>T;c.443A>G;c.454C>T;c.488G>A;c.520T>G;c.521A>G;c.529C>T;c.537_544dupCTACTACC;c.565C>T;c.614C>A;c.651G>C;c.761C>T;c.796G>A;c.838C>T;c.874_876delGAG;c.871G>A;c.886T>C;c.887A>G;c.1076_1077delAG;c.1082-1G>A;c.1096A>T;c.1126G>T;c.1166G>A;c.1252C>T;c.1270C>T;c.1288C>T;c.1366dupC;c.1390C>T;c.1396C>T;c.1415_1416delAG;c.1429G>T;c.1451C>G;c.1532G>A;c.1534G>A;c.1544C>T;c.1552delC;c.1552C>G;c.1552C>T;c.1553G>A;c.1586G>A;c.1628C>T;c.1634+1G>A;c.1635-2A>G;c.1660C>A;c.1661G>A;c.1679C>T;c.1771C>T;c.1772G>A;c.1780+2T>G;c.1781-1G>A;c.1802G>A;c.1817C>T;c.1825G>A;c.1826A>G;c.1849C>T;c.1850G>A;c.1865+1G>A;c.1866-10G>A;c.1866-1G>A;c.1866-1G>C;c.1876G>A;c.1895C>T;c.1978C>T;c.1992-2A>G;c.2006_2007delAC;c.2037G>A |
| ACAD9 | La deficiencia de acil-CoA deshidrogenasa 9 (déficit del complejo mitocondrial I nuclear tipo 20) | Autosómica recesiva | NM_014049.4 | c.23delT;c.130T>A;c.359delT;c.453+1G>A;c.509C>T;c.514G>A;c.797G>A;c.976G>C;c.1030-1G>A;c.1240C>T;c.1249C>T;c.1594C>T;c.1687C>G;c.1693-2A>G;c.1715G>A |
| ACADM | Deficiencia de acil-CoA deshidrogenasa de cadena media | Autosómica recesiva | NM_001286043.1 | c.30+2T>C;c.107_113dupGATTTAG;c.118+1G>T;c.157C>T;c.173_174delAG;c.216+1G>T;c.216+2T>G;c.224delT;c.233T>C;c.244dupT;c.250C>T;c.253G>A;c.270_271delCA;c.286+2T>G;c.386-2A>G;c.386-1G>C;c.421_424delATTA;c.419T>C;c.446G>A;c.461C>T;c.486+1delG;c.486+1G>A;c.486+1G>T;c.525delG;c.530_533delAGTA;c.536delT;c.548_551delCTGA;c.546G>A;c.563T>C;c.568-2A>C;c.568-1G>A;c.676A>G;c.682G>A;c.698+1G>A;c.698+2T>C;c.699-18G>A;c.715C>T;c.716G>A;c.716G>T;c.797T>C;c.807+1G>A;c.807+2T>G;c.808-2A>C;c.808-1G>A;c.829T>C;c.833C>T;c.841A>G;c.896A>G;c.898G>A;c.916_928delGCAATGGGAGCTT;c.948+1G>A;c.949-2A>G;c.981_982delAG;c.980G>C;c.1012G>T;c.1025dupT;c.1045-2A>C;c.1048C>T;c.1056_1057delAT;c.1058C>A;c.1076T>C;c.1083delG;c.1084A>G;c.1098_1110dupTAGAATGAGTTAC;c.1111_1112insTAGAATGAGTTAC;c.1111C>T;c.1144delC;c.1144C>T;c.1151C>T;c.1172delA;c.1201_1204delTTAG;c.1213dupG;c.1223T>C;c.1249G>T;c.1288dupT;c.1293+1G>A;c.1294-2A>T;c.1294-1G>C |
| ACADS | Deficiencia de acil-CoA deshidrogenasa de cadena corta | Autosómica recesiva | NM_000017.3 | c.125_135delTCCAGACATGC;c.136C>T;c.164C>T;c.211-1G>A;c.238delC;c.274G>T;c.310_312delGAG;c.315delC;c.319C>T;c.369C>G;c.409C>T;c.417G>A;c.417G>C;c.473-2A>G;c.527C>A;c.529T>C;c.561_568delCAATGCCT;c.593_594delTT;c.675dupG;c.682_683delGA;c.910dupC;c.974G>A;c.988C>T;c.1029+1G>A;c.1030-1G>A;c.1031delA;c.1084C>T;c.1086+1G>A;c.1086+1G>T;c.1095G>T;c.1138C>T;c.1147C>T;c.1164_1165delTG |
| ACADVL | Deficiencia de acil-CoA deshidrogenasa de cadena muy larga | Autosómica recesiva | NM_001270447.1 | c.132-2A>C;c.134C>A;c.174_178dupTGCCC;c.173delC;c.207+1G>A;c.207+2T>C;c.261delA;c.279dupT;c.320_321delCA;c.325C>T;c.335delC;c.346+1G>T;c.346+2T>G;c.347-1G>A;c.367_368delCA;c.368_374delAGTTTCT;c.377_378delAA;c.385_394delGTGGAGCCTG;c.411+1G>C;c.412delG;c.457_459delGAG;c.467G>A;c.469C>T;c.502C>T;c.546+1G>C;c.547-1G>C;c.566_567delTC;c.589G>A;c.602T>C;c.622G>A;c.671_672delAC;c.672C>G;c.706G>A;c.713_716delGTCT;c.733G>A;c.754C>T;c.777_778delCT;c.822-2A>C;c.848C>T;c.868_871delGTTA;c.898_900delGAG;c.917T>C;c.938dupG;c.934G>A;c.950_953dupGGCC;c.956_957delCT;c.965_967delAGA;c.960delG;c.1001delT;c.1022C>T;c.1025C>A;c.1065delT;c.1065dupT;c.1146_1146+1delGGinsCAC;c.1146+1G>A;c.1146+1G>T;c.1146+2T>C;c.1165C>T;c.1166G>A;c.1172A>C;c.1175T>C;c.1182delG;c.1210_1212delGAG;c.1213A>C;c.1215G>C;c.1251+1G>A;c.1251+2T>C;c.1252-15A>G;c.1252-1G>A;c.1315G>A;c.1338+1G>A;c.1349G>A;c.1352delA;c.1385dupG;c.1391G>A;c.1402-2A>T;c.1418G>A;c.1424dupT;c.1426C>T;c.1427G>A;c.1436G>A;c.1441T>C;c.1444dupC;c.1445G>A;c.1458dupG;c.1457G>A;c.1474C>T;c.1475G>A;c.1503+2T>G;c.1537G>C;c.1573C>G;c.1601G>A;c.1601+1G>A;c.1601+2T>C;c.1662dupG;c.1675-2A>C;c.1675-1G>A;c.1748-6G>A;c.1799_1809delCCATGGTGGTG;c.1817C>G;c.1834delC;c.1839_1842delTGAG;c.1875_1876delCT;c.1906C>T;c.1912C>T;c.1913G>A;c.1951delC |
| ACAT1 | Aciduria ?-metil-acetoacética (deficiencia de ?-cetotiolasa) | Autosómica recesiva | NM_000019.3 | c.2T>A;c.149delC;c.278A>G;c.412_419delCAAAGTCT;c.433C>G;c.444_445delGG;c.455G>C;c.472A>G;c.473A>G;c.547G>A;c.622C>T;c.653C>T;c.730+2T>C;c.757G>A;c.814C>T;c.826+1G>T;c.890C>T;c.905delA;c.935T>C;c.997G>C;c.1006-2A>C;c.1006-1G>C;c.1035_1037delAGA;c.1083dupA;c.1136G>T;c.1138G>A;c.1160T>C;c.1163+2T>C |
| ACOX1 | Deficiencia de acil-CoA oxidasa peroxisomal | Autosómica recesiva | NM_004035.6 | c.1851delT;c.926A>G;c.832A>G;c.591delG;c.532G>T;c.442C>T |
| ADA | Inmunodeficiencia combinada grave por deficiencia de adenosina desaminasa (ADA) | Autosómica recesiva | NM_000022.3 | c.1078+2T>A;c.986C>T;c.956_960delAAGAG;c.911T>G;c.890C>A;c.872C>G;c.872C>T;c.845+1G>C;c.736C>T;c.704G>A;c.703C>T;c.698C>T;c.646G>A;c.632G>A;c.603C>G;c.532delG;c.532dupG;c.478+1G>A;c.467G>A;c.466C>T;c.424C>T;c.396dupA;c.350G>A;c.320T>C;c.302G>A;c.221G>T;c.219-1G>A;c.219-2A>G;c.218+2T>G;c.218+1G>A;c.95+1G>A;c.58G>A;c.43C>G;c.33+1G>C;c.7C>T |
| ADAMTS2 | Síndrome de Ehlers-Danlos tipo dermatosparaxis | Autosómica recesiva | NM_014244.4 | c.3070delA;c.2458-6_2458delGCACAGG;c.2384G>A;c.673C>T |
| AGA | Aspartilglucosaminuria (deficiencia de aspartilglucosaminidasa) | Autosómica recesiva | NM_000027.3;NM_001171988.1 | c.941-2A>G;c.940+1G>A;c.940+1G>T;c.916T>C;c.904G>A;c.800delT;c.800dupT;c.788delT;c.770C>T;c.755G>A;c.754G>C;c.698+1G>T;c.676+1G>A;c.623-2A>G;c.537C>A;c.508-2A>G;c.503G>A;c.490C>T;c.488G>C;c.473G>A;c.439T>C;c.404T>C;c.373_376delACAC;c.369_373delACACA;c.346C>T;c.336delT;c.333delT;c.319C>T;c.302C>T;c.299G>A;c.281+1G>T;c.214T>C;c.200_201delAG;c.192delT;c.192T>A;c.127+1G>A;c.102_108delGCCCTTT;c.101_107delGGCCCTT |
| AGL | Enfermedad de almacenamiento de glucógeno tipo 3 | Autosómica recesiva | NM_000028.2 | c.16C>T;c.18_19delGA;c.22delC;c.22C>T;c.64delC;c.82+1G>A;c.94C>T;c.100C>T;c.104T>G;c.118C>T;c.121G>T;c.140dupA;c.223_224delGA;c.251dupA;c.256C>T;c.276delG;c.289C>T;c.293+1delG;c.294-2A>T;c.294-1G>C;c.378T>A;c.437delG;c.442delA;c.460+1G>A;c.500dupG;c.535_538delTTAG;c.664+1G>A;c.664+3A>G;c.672dupT;c.753_756delCAGA;c.853C>T;c.958+1G>A;c.1078C>T;c.1082+1G>C;c.1159C>T;c.1169_1172delACTA;c.1185+1G>A;c.1222C>T;c.1384delG;c.1391dupG;c.1400delC;c.1423+1G>T;c.1485delT;c.1533dupA;c.1536_1545delCACTGAAATA;c.1589C>G;c.1597_1598delCT;c.1612-1G>C;c.1735+1G>T;c.1782C>A;c.1783C>T;c.1999delC;c.2001+2T>C;c.2011_2012delGT;c.2039G>A;c.2120_2121delAA;c.2158-2A>G;c.2158-1G>A;c.2223_2224delGT;c.2278delA;c.2309-1G>A;c.2457_2460delACAA;c.2525delC;c.2538dupT;c.2590C>T;c.2605C>T;c.2681+1G>A;c.2681+1G>T;c.2682-2A>G;c.2717_2721delAGATC;c.2728C>T;c.2906_2907delAT;c.2929C>T;c.2949+2T>A;c.2949+2T>C;c.2950-2A>C;c.2950-1G>A;c.3011delC;c.3083+2T>C;c.3204_3205delTA;c.3216_3217delGA;c.3235C>T;c.3297G>A;c.3362+1G>A;c.3363-1G>A;c.3439A>G;c.3443dupA;c.3444C>G;c.3554delC;c.3589-1G>A;c.3613C>T;c.3652C>T;c.3682C>T;c.3807dupT;c.3816_3817delAG;c.3836+1G>A;c.3911delA;c.3911dupA;c.3965delT;c.3980G>A;c.4165_4166delCC;c.4175_4176delTT;c.4197delA;c.4221dupA;c.4260-12A>G;c.4260-1G>T;c.4322_4323dupAA;c.4323delA;c.4342G>C;c.4347+1G>A;c.4348G>T;c.4353G>T;c.4456delT;c.4459C>T;c.4481+1G>C;c.4481+2T>G;c.4529dupA |
| AGPS | Condrodisplasia punctata rizomélica tipo 3 | Autosómica recesiva | NM_003659.3 | c.926C>T;c.1256G>A;c.1406T>C;c.1703C>T |
| AGXT | Hiperoxaluria primaria tipo 1 | Autosómica recesiva | NM_000030.2 | c.2_3delTGinsAT;c.2T>C;c.3G>T;c.32_33delCC;c.33delC;c.33dupC;c.32C>G;c.74T>G;c.77T>C;c.83delC;c.106C>T;c.107G>A;c.116_117dupCA;c.126delG;c.126dupG;c.121G>A;c.122G>A;c.122G>T;c.125G>A;c.130C>T;c.139G>A;c.166-2A>G;c.166-1G>A;c.167T>A;c.187G>C;c.198C>G;c.205C>T;c.209C>A;c.215dupA;c.221_227dupTCACACT;c.242C>A;c.242C>T;c.244G>C;c.245G>A;c.248A>G;c.276delT;c.283_285dupGAG;c.283G>A;c.322T>C;c.327delG;c.323G>A;c.324G>T;c.326G>T;c.331C>T;c.332G>A;c.335C>A;c.349G>T;c.353G>A;c.358+1G>T;c.358+2T>G;c.364C>T;c.406_410dupCTGCA;c.409C>T;c.423G>T;c.423+1G>A;c.424-2A>G;c.445delG;c.447_454delGCTGCTGT;c.449T>C;c.454T>A;c.460delA;c.466G>A;c.473C>A;c.473C>T;c.481G>A;c.481G>C;c.481G>T;c.497T>C;c.508G>A;c.518G>A;c.519C>A;c.524+2T>A;c.525-1G>A;c.533G>A;c.547G>A;c.560C>T;c.570delG;c.568G>A;c.577delC;c.577dupC;c.583A>C;c.584T>G;c.596-2A>G;c.603C>A;c.605T>A;c.612C>A;c.613T>C;c.614C>A;c.614C>T;c.642_645delTCCA;c.646G>A;c.661T>C;c.673_676delAAGG;c.679_680+2delAAGT;c.680+1G>A;c.680+1G>C;c.680+2T>A;c.681-1G>T;c.697C>T;c.698G>A;c.698G>T;c.725dupT;c.727G>C;c.731T>C;c.737G>A;c.738G>A;c.744delC;c.752G>A;c.753G>A;c.757T>C;c.776+1G>A;c.776+1G>C;c.776+2T>G;c.777-2A>G;c.777-1G>C;c.798_802delCATCAinsACAATCTCAG;c.806T>C;c.823_824dupAG;c.822G>C;c.834delC;c.844C>T;c.846G>C;c.846+1G>A;c.846+1G>T;c.847-1G>C;c.851T>C;c.853G>T;c.891T>G;c.893T>C;c.907C>T;c.919delC;c.922C>T;c.942+1G>T;c.943-1G>A;c.943-1G>T;c.956C>T;c.959_960delCA;c.971_972delTG;c.976delG;c.996G>A;c.997A>T;c.1014C>G;c.1045G>A;c.1071+1G>A;c.1076T>C;c.1079G>A;c.1079G>C;c.1102G>A;c.1125_1126delCG;c.1151T>C |
| AHI1 | Síndrome de Joubert tipo 3 | Autosómica recesiva | NM_001134830.1 | c.3263_3264delGG;c.2988delA;c.2609G>A;c.2598_2604delAGTGTAT;c.2569_2570insAG;c.2495T>G;c.2493-2A>G;c.2368_2369insT;c.2297G>A;c.2295dupA;c.2212C>T;c.2187_2196delGAGAGAAGAT;c.2174G>A;c.2172delA;c.2173T>C;c.2168G>A;c.2156A>G;c.2098_2099dupGT;c.2087A>G;c.2036+1G>T;c.2023G>A;c.2012C>T;c.1997A>T;c.1917T>A;c.1897_1898dupGG;c.1861G>T;c.1765C>T;c.1626+1G>A;c.1614delA;c.1516C>T;c.1484G>A;c.1303C>T;c.1267C>T;c.1260G>A;c.1205delC;c.1152-2A>G;c.1052G>T;c.1051C>T;c.985C>T;c.910dupA;c.736A>T;c.662C>G |
| AIRE | Síndrome de la poliendocrinopatía autoinmune tipo 1 | Autosómica recesiva* | NM_000383.3 | c.1A>G;c.1A>T;c.62C>T;c.83T>C;c.132+1_132+3delGTGinsCT;c.157G>T;c.199_202delCTGAinsTGG;c.205_208dupCAGG;c.232T>C;c.233G>A;c.239T>G;c.247A>G;c.254A>G;c.255C>A;c.260delT;c.274C>T;c.319_321delAGCinsTG;c.328delC;c.415C>T;c.457_458delAGinsC;c.463+2T>C;c.464-2A>T;c.469C>T;c.510_522dupAGAGCAGCAGCGC;c.517C>T;c.652+1G>T;c.652+2T>C;c.682G>T;c.769C>T;c.789delC;c.798+1G>A;c.798+1G>C;c.798+1G>T;c.809_810delAG;c.823delC;c.931delT;c.932G>A;c.958delC;c.967_979delCTGTCCCCTCCGC;c.977delC;c.1066dupC;c.1084delG;c.1095+1G>A;c.1096-1G>A;c.1103dupC;c.1116_1117delGG;c.1163_1164insA;c.1193delC;c.1249dupC;c.1265delC;c.1278+1delG;c.1279-2A>G;c.1365G>A;c.1513delG;c.1566+2T>A;c.1567-2A>G;c.1616C>T;c.1638A>T |
| ALDH3A2 | Síndrome de Sjögren-Larsson | Autosómica recesiva | NM_001031806.1 | c.28C>T;c.73C>T;c.103C>T;c.153+2T>G;c.154_155delAG;c.191T>A;c.231delA;c.234G>A;c.281dupA;c.374_378delCCATC;c.386-2A>T;c.471+1delG;c.471+2T>G;c.472-2A>G;c.521delT;c.551C>T;c.574dupA;c.577delG;c.623T>C;c.641G>A;c.733G>A;c.769dupA;c.798+1delG;c.798+1_798+6delGTTTGT;c.798+1G>A;c.809delG;c.824_825delAG;c.835T>A;c.901_903delGCTinsCC;c.943C>T;c.979delG;c.1069A>T;c.1094C>T;c.1100delA;c.1108-2A>G;c.1108-1G>A;c.1108-1G>C;c.1108-1G>T;c.1157A>G;c.1202G>A;c.1207+1G>A;c.1212delC;c.1277T>G;c.1291_1292delAA;c.1297_1298delGA;c.1302dupT;c.1307_1311dupACAAA;c.1367T>A;c.1443+1G>A;c.*42-1G>T |
| ALDOB | Intolerancia hereditaria a la fructosa | Autosómica recesiva | NM_000035.3 | c.1067C>A;c.1013C>T;c.1005C>G;c.940dupT;c.941G>A;c.911G>A;c.888G>A;c.865delC;c.800-2A>C;c.720C>A;c.625-1G>A;c.625-2A>G;c.612T>A;c.546delA;c.524C>A;c.522C>G;c.448G>C;c.444G>A;c.442T>C;c.420delA;c.380-1G>A;c.380-2A>G;c.379+1G>A;c.360_363delCAAA;c.325-1G>A;c.324+2T>A;c.324+1G>A;c.178C>T;c.113-1_115delGGTA;c.112+1delG;c.10C>T;c.2T>C;c.-11+1G>C |
| ALG1 | Trastorno congénito de la glicosilación tipo 1K | Autosómica recesiva | NM_019109.4 | c.15C>A;c.149A>G;c.304C>T;c.434G>A;c.450C>G;c.773C>T;c.823G>T;c.863-2A>G;c.901+1G>A;c.1079C>T;c.1129A>G;c.1187+1G>A;c.1187+3A>G;c.1250_1251insTG |
| ALG6 | Trastorno congénito de la glicosilación tipo 1C | Autosómica recesiva | NM_013339.3 | c.171T>A;c.257+5G>A;c.316C>T;c.680G>A;c.680+2T>G;c.897_899delAAT;c.908_910delGTT;c.998C>T;c.1432T>C |
| ALMS1 | Síndrome de Alström | Autosómica recesiva | NM_015120.4 | c.355C>T;c.359_360delTA;c.427C>T;c.709G>T;c.925_926insT;c.1051C>T;c.1196_1202delCACAGGA;c.1229_1230delAT;c.1237+2T>C;c.1432+2_1432+15delTACGTAGAAAAAGG;c.1557delG;c.1607_1608delTC;c.1668delT;c.1729delA;c.1788_1795dupGGCTTTGA;c.1894C>T;c.2127_2131delAGTAC;c.2135_2136delCT;c.2173dupT;c.2218dupA;c.2290_2293delTCAC;c.2323C>T;c.2723C>G;c.2749dupT;c.2787dupA;c.2816T>A;c.3013dupA;c.3294_3295delAA;c.3334delG;c.3486_3495delTATACCTGAA;c.3684_3685delTG;c.3778G>T;c.3870_3871delGA;c.4150dupA;c.4246delC;c.4290_4293delCACA;c.4422delC;c.4642dupA;c.4911_4914delTAAA;c.5139T>G;c.5173dupC;c.5193_5194delTC;c.5412delC;c.5459delC;c.5584C>T;c.5619delA;c.5624dupT;c.5857delG;c.5883delA;c.5920delG;c.5975_5976delAA;c.6163_6164dupAT;c.6430C>T;c.6480_6483delAACT;c.6565_6568delTCAC;c.6567_6570dupACAT;c.6584delA;c.6794T>A;c.6834delT;c.6895delG;c.6954_6957delACAG;c.7241C>A;c.7298_7299delAG;c.7369_7370delGA;c.7370_7373delATAG;c.7385_7389dupAGGGT;c.7824delC;c.8002C>T;c.8130delT;c.8138_8145delCCATCACT;c.8149dupT;c.8158C>T;c.8346_8349delAGAA;c.8377C>T;c.8383C>T;c.8388dupA;c.8411dupC;c.8753_8756delCTTC;c.8787dupT;c.9148_9149delCT;c.9427dupA;c.9535C>T;c.9614_9618delCAGAA;c.9757_9758dupAC;c.9812_9825delGTAGTACCAAGATG;c.9894dupC;c.10128dupA;c.10284_10285delTA;c.10297delCinsGA;c.10477C>T;c.10543C>T;c.10769delC;c.10784_10785delTG;c.10794_10797delTGAA;c.10819C>T;c.10825_10826delAG;c.10879C>T;c.10939G>T;c.10986G>A;c.11080delA;c.11201C>A;c.11310_11313delAGAG;c.11379delT;c.11443C>T;c.11453dupA;c.11612_11613delCT;c.11613dupT;c.11645_11646insGTTA;c.11697delA;c.11711_11714delTTGG;c.11781G>A;c.11806dupA;c.11870-2A>T;c.11988G>A;c.12080_12083delTACT;c.12101_12102delCA;c.12299_12302delTCCT;c.12439C>T;c.12445C>T |
| ALPL | Hipofosfatasia infantil | Autosómica recesiva | NM_000478.5 | c.18delA;c.46_49delAACT;c.61+2T>G;c.87G>A;c.88C>T;c.98C>T;c.114delA;c.129delT;c.130C>T;c.211C>T;c.212G>C;c.215T>C;c.297+2T>A;c.323C>T;c.346G>A;c.392delG;c.400_401delACinsCA;c.407G>A;c.427delC;c.522delC;c.526G>A;c.535G>A;c.542C>T;c.550C>T;c.571G>A;c.620A>C;c.648+1G>A;c.662dupG;c.667C>T;c.668G>A;c.791A>G;c.809G>A;c.814C>T;c.815G>A;c.841delC;c.862+1G>A;c.871G>A;c.881A>C;c.891C>A;c.892G>A;c.903delG;c.928_929delTC;c.963delG;c.979T>C;c.997+2T>G;c.998-2A>G;c.1001G>A;c.1039C>T;c.1088_1091dupGCAG;c.1114_1115delCT;c.1133A>T;c.1144G>A;c.1171C>T;c.1181_1182delCT;c.1216_1219delGACA;c.1250A>G;c.1306T>C;c.1363G>A;c.1366G>A;c.1559delT |
| AMT | Encefalopatía por glicina | Autosómica recesiva | NM_000481.3 | c.1033+2T>C;c.982_983delGCinsT;c.982delG;c.959G>A;c.878-1G>A;c.870G>A;c.849dupT;c.826G>C;c.806G>A;c.696+2T>A;c.696+1G>A;c.674A>G;c.574C>T;c.535delC;c.496C>T;c.471+2T>C;c.434A>T;c.348_349delGT;c.259-1G>C;c.230C>T;c.164G>A;c.144_148delAATGG;c.148delG;c.125A>G;c.61delG;c.59delC;c.16delA |
| AR | Síndrome de insensibilidad a los andrógenos | Ligada al X | NM_000044.3 | c.178C>T;c.217C>T;c.268C>T;c.340C>T;c.393C>A;c.521T>G;c.796dupG;c.865G>T;c.1185C>A;c.1720G>C;c.1732G>A;c.1739G>A;c.1739G>T;c.1748T>A;c.1768+2T>C;c.1771A>T;c.1789G>A;c.1804T>G;c.1822C>T;c.1823G>A;c.1826G>A;c.1847G>A;c.1886-1G>A;c.1888delC;c.1888C>T;c.1952delG;c.2033T>C;c.2069A>C;c.2103G>T;c.2104C>T;c.2105T>A;c.2117A>G;c.2123T>G;c.2137C>A;c.2137C>T;c.2157G>A;c.2164G>A;c.2191G>A;c.2222C>G;c.2231G>A;c.2231G>T;c.2248A>G;c.2257C>T;c.2258G>A;c.2258G>T;c.2281_2287delAGGATGCinsTTCGCCCCTGA;c.2291A>G;c.2296G>A;c.2297C>A;c.2301delT;c.2314A>C;c.2318+1G>C;c.2323C>T;c.2324G>A;c.2343G>A;c.2343G>T;c.2359C>T;c.2362A>G;c.2391G>A;c.2395C>G;c.2420G>A;c.2423T>C;c.2437C>T;c.2438T>C;c.2450-1G>A;c.2504A>G;c.2521C>T;c.2522G>A;c.2562_2563delAA;c.2566C>T;c.2567G>A;c.2567G>T;c.2571C>G;c.2596T>C;c.2599G>A;c.2599G>T;c.2610T>G;c.2613delG;c.2623C>T;c.2632A>G;c.2650A>T;c.2668G>A;c.2668G>C;c.2708A>G |
| ARG1 | Argininemia (deficiencia de arginasa) | Autosómica recesiva | NM_001244438.1 | c.2T>C;c.32T>C;c.57+1G>A;c.58-2A>C;c.61C>T;c.129delA;c.130+1G>T;c.296dupG;c.389G>A;c.437G>T;c.490-2A>G;c.490-1G>C;c.717delT;c.727G>A;c.727G>C;c.811G>T;c.868delC;c.895C>T |
| ARSA | Leucodistrofia metacromática | Autosómica recesiva | NM_000487.5 | c.1489_1492dupCCCC;c.1492dupC;c.1462C>T;c.1408_1418delGCAGCTGTGAC;c.1401_1411delGTTAGACGCAG;c.1344dupC;c.1337delG;c.1283C>T;c.1279C>A;c.1274A>G;c.1264delC;c.1241delC;c.1232C>T;c.1210+1G>A;c.1210+1G>T;c.1175G>A;c.1174C>T;c.1150G>A;c.1136C>T;c.1125_1126delCT;c.1114C>T;c.1108-2A>G;c.1107+1delG;c.1036delG;c.1010A>T;c.991G>T;c.986C>T;c.980-2A>C;c.979_979+3delGGTC;c.979+1G>A;c.979G>A;c.960G>A;c.938G>A;c.937C>T;c.931G>A;c.929delG;c.905G>T;c.899T>C;c.891delC;c.890C>A;c.883G>A;c.877C>T;c.869G>A;c.868C>T;c.862A>C;c.854+1G>A;c.854+1G>T;c.827C>T;c.769G>C;c.763G>A;c.758dupT;c.746T>C;c.739G>A;c.737G>A;c.697C>A;c.674_675dupAT;c.641C>T;c.622delC;c.583delT;c.582delC;c.545delC;c.545C>G;c.542dupT;c.542T>G;c.526C>T;c.495_501delGCCGGCC;c.494dupC;c.474C>A;c.470C>G;c.467G>A;c.466-2A>G;c.465+2T>A;c.465+1G>A;c.421C>T;c.418delC;c.418dupC;c.410T>C;c.346C>T;c.304delC;c.302delG;c.302G>A;c.293C>T;c.263G>A;c.257G>A;c.256C>T;c.240dupC;c.229G>C;c.227_228insTA;c.225-2A>G;c.224+1G>A;c.211_212delTG;c.206_209delCTCT;c.195delC;c.185_186dupCA;c.109_116delGACCTGGG;c.98T>C;c.34delG |
| ARSB | Mucopolisacaridosis tipo 6 (síndrome de Maroteaux-Lamy) | Autosómica recesiva | NM_000046.3 | c.1577delC;c.1539C>G;c.1507C>T;c.1482delC;c.1475delC;c.1438dupG;c.1394C>G;c.1391C>A;c.1366C>T;c.1350G>C;c.1336+2T>G;c.1279delA;c.1261G>T;c.1214G>A;c.1214-2A>G;c.1208delC;c.1208C>G;c.1197C>G;c.1178A>C;c.1161dupC;c.1143-1G>C;c.1143-8T>G;c.1142+2T>A;c.1142+2T>C;c.1142+1G>T;c.1130G>A;c.1059G>A;c.1036delG;c.979C>T;c.971G>T;c.966G>A;c.944G>A;c.943C>T;c.937C>G;c.936G>T;c.921delA;c.883_884dupTT;c.785dupA;c.765T>A;c.750_754delATACTinsCCTGAAGTCAAG;c.753C>G;c.743delC;c.691-1G>A;c.659_660delTA;c.630_636delTTCAACA;c.629A>G;c.589C>T;c.574T>C;c.571C>T;c.533A>T;c.532C>G;c.498delT;c.479G>A;c.478C>T;c.454C>T;c.438G>A;c.430G>A;c.427delG;c.375dupT;c.349T>C;c.328C>T;c.289C>T;c.284G>A;c.262C>T;c.253T>C;c.245delT;c.245T>G;c.237_243delGGTGCTC;c.238delG;c.208_215delCCGCACCT;c.215T>G;c.207_213dupGCCGCAC;c.116_123delCCGGGGCC |
| ARSE | Condrodisplasia punctata braquitelefalángica | Ligada al X | NM_001282628.1 | c.1818G>A;c.1807C>T;c.1550G>A;c.1517C>T;c.1504delG;c.1462G>A;c.1375G>A;c.485G>T;c.424G>A;c.407G>A;c.407G>C;c.194T>G;c.99-1G>A |
| ASL | Aciduria argininosuccínica | Autosómica recesiva | NM_000048.3 | c.13-1G>C;c.35G>A;c.175G>A;c.257A>C;c.283C>T;c.291+1G>T;c.292delG;c.292G>T;c.299T>C;c.332G>A;c.337C>T;c.346C>T;c.446+1G>A;c.446+2T>C;c.447-1G>A;c.461T>C;c.524+2T>G;c.525-2A>T;c.532G>A;c.539T>G;c.544C>T;c.545G>A;c.575_580dupAGCGGA;c.578G>A;c.602+1G>A;c.637C>T;c.649C>T;c.735G>A;c.762C>A;c.765dupG;c.857A>G;c.889C>T;c.918+5G>A;c.973_976delTTAC;c.978G>C;c.1045_1057delGTCATCTCTACGC;c.1060C>T;c.1122dupC;c.1135C>T;c.1144-2A>G;c.1153C>T;c.1249_1250+12delAGGTACGGCCCATC;c.1255_1256delCT;c.1360C>T;c.1369dupG |
| ASPA | Enfermedad de Canavan | Autosómica recesiva | NM_000049.2 | c.2T>C;c.32delT;c.79G>A;c.212G>A;c.236+1G>A;c.237-2A>T;c.237-1G>A;c.237-1G>T;c.244dupA;c.244_245delAT;c.245delT;c.340G>T;c.382delC;c.433-2A>G;c.514_515dupAA;c.527-2A>C;c.631G>T;c.634+1G>T;c.640G>T;c.650_651delCC;c.654C>A;c.679_682delGAGA;c.697delC;c.693C>A;c.745-2A>G;c.745-1G>A;c.770C>G;c.827_828delGT;c.854A>C;c.859G>A;c.876_879delAGAA;c.914C>A;c.924delT |
| ASS1 | Citrulinemia tipo 1 | Autosómica recesiva | NM_000050.4 | c.-4C>T;c.40G>A;c.175-1G>A;c.226delG;c.256C>T;c.257G>A;c.291C>A;c.349G>A;c.412C>T;c.420+1G>A;c.421-2A>G;c.450_451delCT;c.470G>A;c.496-2A>G;c.535T>C;c.539G>A;c.566+1G>T;c.567-1G>T;c.571G>A;c.688+1_688+5delGTATG;c.689G>C;c.773+1G>A;c.787G>A;c.793C>T;c.794G>A;c.805G>A;c.814C>T;c.823G>T;c.835C>T;c.836G>A;c.838+1G>T;c.847G>A;c.851C>T;c.892delG;c.910C>T;c.919C>T;c.931C>T;c.951delT;c.970G>A;c.970+1G>A;c.970+5G>A;c.971-1G>A;c.978delG;c.1030C>T;c.1064delA;c.1069C>T;c.1085G>T;c.1087C>T;c.1088G>A;c.1127+1G>A;c.1138C>T;c.1139delA;c.1168G>A;c.1194-1G>C |
| ATM | Ataxia-telangiectasia | Autosómica recesiva | NM_000051.3 | c.-30-1G>T;c.1A>G;c.2T>C;c.3G>A;c.8delT;c.15dupT;c.43delC;c.67C>T;c.72+1G>A;c.73-1G>A;c.103C>T;c.119_122delTTAA;c.138_141delTTCA;c.140C>G;c.151C>T;c.154G>T;c.157A>T;c.170G>A;c.185+1G>A;c.186-1G>A;c.192delA;c.193C>T;c.205C>T;c.217_218delGA;c.237delA;c.283C>T;c.289delA;c.299T>A;c.331+1G>A;c.331+2T>G;c.331+5G>A;c.332-1G>A;c.364_368delAATTA;c.362T>A;c.368delA;c.378delT;c.381delA;c.387delA;c.392C>A;c.392C>G;c.432dupA;c.450_453delTTCT;c.471T>A;c.478_482delTCTCA;c.484C>T;c.496G>T;c.496+1G>A;c.496+5G>A;c.497-1G>C;c.513C>G;c.538C>T;c.549_550delTA;c.557T>G;c.561_562delGGinsT;c.564delT;c.588delA;c.597T>A;c.601C>T;c.606_609delTGAC;c.640delT;c.642delC;c.652C>T;c.662+1G>A;c.663-2A>G;c.664C>T;c.680delC;c.680C>G;c.689delA;c.710delC;c.717_720delCCTC;c.741dupT;c.742C>T;c.748C>T;c.756_757delTG;c.785T>A;c.790delT;c.802C>T;c.824delT;c.829G>T;c.850C>T;c.875C>T;c.877A>T;c.901+1G>A;c.901+1G>C;c.901+1G>T;c.902-1G>T;c.967A>G;c.977_978delTA;c.992delA;c.1003G>T;c.1017delT;c.1027_1030delGAAA;c.1053dupT;c.1058_1059delGT;c.1063C>T;c.1065+1G>C;c.1065+1G>T;c.1066-2A>C;c.1066-2A>T;c.1066-1G>A;c.1066-1G>T;c.1093G>T;c.1109dupA;c.1110C>G;c.1120C>T;c.1126_1127delGA;c.1126G>T;c.1139_1142dupACAG;c.1158delG;c.1179_1180delGG;c.1178G>A;c.1192delG;c.1208C>A;c.1212_1213delGA;c.1215delT;c.1221dupT;c.1235+1delG;c.1235G>A;c.1235+1G>A;c.1236-3_1236-2delTA;c.1236-2A>G;c.1236-2A>T;c.1236-1G>A;c.1240C>T;c.1249delA;c.1264A>T;c.1285_1288delAACT;c.1284_1291delTAACTGTG;c.1290_1291delTG;c.1305delA;c.1329delA;c.1333delC;c.1339C>T;c.1348delG;c.1348G>T;c.1355delC;c.1368dupA;c.1369C>T;c.1394_1395delGT;c.1396C>T;c.1402_1403delAA;c.1424C>G;c.1435_1436delGA;c.1439_1448delTATTAAAACT;c.1442T>G;c.1446delA;c.1463G>A;c.1495C>T;c.1501C>T;c.1514_1515delTT;c.1524delT;c.1537C>T;c.1547T>A;c.1547T>C;c.1547T>G;c.1564_1565delGA;c.1573A>T;c.1597_1600dupAGAC;c.1607+1G>T;c.1608-1G>A;c.1608-1G>C;c.1655delC;c.1658delG;c.1660delA;c.1692T>A;c.1697_1706delTAAATAGAAG;c.1737G>A;c.1740_1741delCT;c.1741_1742delTT;c.1753_1756delTTAG;c.1768G>T;c.1803-2A>G;c.1856delA;c.1880dupT;c.1898+1G>A;c.1898+1G>T;c.1898+2T>G;c.1899-1G>A;c.1915_1916insT;c.1920_1923delAGAA;c.1918A>T;c.1924G>T;c.1931C>A;c.1939G>T;c.1960C>T;c.2023C>T;c.2050C>T;c.2080_2081delCT;c.2098C>T;c.2113delT;c.2115C>G;c.2119_2123delTCTGA;c.2124+1G>T;c.2125-2A>C;c.2125-1G>A;c.2125delA;c.2129delC;c.2135C>G;c.2165dupT;c.2167_2173delGTGGGTG;c.2193C>A;c.2250+1G>A;c.2250+2T>C;c.2251-10T>G;c.2251-1G>C;c.2272G>T;c.2284_2285delCT;c.2286_2287delGT;c.2295delT;c.2308G>T;c.2376+1G>A;c.2376+1G>C;c.2376+1G>T;c.2377-2A>G;c.2413C>T;c.2426C>A;c.2465T>A;c.2466+1delG;c.2466+1G>A;c.2466+2T>A;c.2466+2T>G;c.2467-2A>C;c.2467-2A>T;c.2467-1G>A;c.2483delA;c.2494dupC;c.2497G>T;c.2500G>T;c.2502dupA;c.2521delG;c.2542G>T;c.2548G>T;c.2554C>T;c.2564dupT;c.2572_2575delTTTA;c.2583C>A;c.2606_2607delCA;c.2620G>T;c.2638+1delG;c.2638+2T>C;c.2654_2656delTAGinsAA;c.2654T>G;c.2662G>T;c.2672C>G;c.2677C>T;c.2693T>G;c.2720_2723delGTGT;c.2727delT;c.2730_2731insAG;c.2734C>T;c.2754delT;c.2775delG;c.2789T>G;c.2806_2809dupCTAG;c.2838+1G>T;c.2839-3_2839delTAGTinsGATACTA;c.2839-2A>G;c.2849T>G;c.2880delC;c.2877C>G;c.2882delT;c.2897_2899delTTCinsGCCAA;c.2902G>T;c.2912_2916delAACCA;c.2921+1G>A;c.2921+1G>C;c.2921+1G>T;c.2922-1G>T;c.2965delA;c.2985_2988delTCAT;c.2999dupA;c.3025G>T;c.3038dupA;c.3043C>T;c.3049C>T;c.3068delG;c.3077G>A;c.3077+1G>A;c.3078-1G>A;c.3078G>A;c.3085dupA;c.3102T>G;c.3154-2A>G;c.3154-1G>A;c.3167C>A;c.3206delC;c.3214G>T;c.3218dupT;c.3231dupT;c.3242_3245delATCA;c.3245_3247delATCinsTGAT;c.3252_3259delAGTTCGCA;c.3279_3282delCAAT;c.3279_3280insT;c.3284G>A;c.3284+1G>A;c.3284+1G>C;c.3292delC;c.3304G>T;c.3315dupC;c.3320_3323delTACT;c.3320T>A;c.3335dupC;c.3340A>T;c.3351_3354delAACA;c.3349C>T;c.3369delA;c.3372C>G;c.3381_3384delTCAG;c.3382C>T;c.3388G>T;c.3402+2T>C;c.3403-1G>A;c.3435_3436delTGinsA;c.3436G>T;c.3450_3454delAAAAT;c.3451A>T;c.3510dupA;c.3511C>T;c.3526delC;c.3532A>T;c.3539_3540delTG;c.3541A>T;c.3576G>A;c.3576+1G>A;c.3576+1G>T;c.3577-1G>C;c.3602_3603delTT;c.3603delT;c.3617_3621delTAGAAinsG;c.3619G>T;c.3626_3627delTT;c.3627delT;c.3631delG;c.3663G>A;c.3673C>T;c.3693_3697delATCTT;c.3704delC;c.3712_3716delTTATT;c.3747-2A>G;c.3747-1G>A;c.3747-1G>C;c.3754_3756delTATinsCA;c.3756T>A;c.3760delG;c.3780dupG;c.3802delG;c.3836G>A;c.3841delA;c.3848T>C;c.3850delA;c.3852delA;c.3865A>T;c.3880dupA;c.3894dupT;c.3895delG;c.3931C>T;c.3939_3940delGA;c.3935dupG;c.3980T>G;c.3990delA;c.3993+1G>A;c.3993+1G>T;c.3994-2A>C;c.3994-2A>G;c.3994-1G>T;c.4019_4029delTACCAGAGATT;c.4036G>T;c.4052delT;c.4052T>A;c.4081C>T;c.4084_4085delAG;c.4098_4099delTG;c.4104_4105delTT;c.4106C>A;c.4109+1G>T;c.4110-1G>A;c.4143dupT;c.4148C>A;c.4198A>T;c.4227delC;c.4236+1G>T;c.4246C>T;c.4303A>T;c.4318A>T;c.4330_4333delCTGTinsTAAAATAAA;c.4332_4337delGTTTGTinsTAAAA;c.4344dupA;c.4358_4359delTA;c.4359_4363delAAAAA;c.4370T>G;c.4373delG;c.4394T>C;c.4396C>T;c.4405delA;c.4415T>A;c.4416delG;c.4436+1G>T;c.4436+2T>C;c.4437-1G>A;c.4437-1G>C;c.4451delT;c.4493T>G;c.4507C>T;c.4587T>G;c.4588G>T;c.4609C>T;c.4611+1G>A;c.4612-2A>C;c.4612-1G>A;c.4625dupT;c.4632_4635delCTTA;c.4642_4645delGATA;c.4661delA;c.4664delT;c.4683_4689delTTTAGAT;c.4695delT;c.4732C>T;c.4735C>T;c.4741dupA;c.4774G>T;c.4776+1G>T;c.4776+2T>A;c.4776+2T>C;c.4800_4803delAAGT;c.4804_4805delGT;c.4844delA;c.4842_4843insCT;c.4852C>T;c.4879C>T;c.4906C>T;c.4909+1G>A;c.4909+1G>T;c.4910-2A>T;c.4910-1G>T;c.4938delA;c.4957C>T;c.5005+1G>T;c.5015delG;c.5065C>T;c.5177+1G>A;c.5177+5G>A;c.5178-1G>A;c.5188C>T;c.5192C>G;c.5201_5202insAT;c.5203dupA;c.5209_5210delTT;c.5249G>A;c.5290delC;c.5309C>G;c.5318delA;c.5319+1G>A;c.5319+1G>T;c.5319+2T>C;c.5320-4_5323delCTAGTTTT;c.5320-5_5320-2delTCTA;c.5326G>T;c.5351delA;c.5396delG;c.5405dupA;c.5414G>A;c.5416delA;c.5433T>A;c.5441dupT;c.5443delG;c.5460dupA;c.5496+1G>A;c.5496+1G>T;c.5497-2A>C;c.5497-2A>G;c.5497-1G>A;c.5515C>T;c.5516dupA;c.5549delT;c.5549T>A;c.5554dupC;c.5554C>T;c.5573G>A;c.5623C>T;c.5631_5635delCTCGCinsA;c.5644C>T;c.5653dupA;c.5681_5682delAG;c.5692C>T;c.5697C>A;c.5712dupA;c.5762+1G>A;c.5762+1G>T;c.5763-1050A>G;c.5763-2A>C;c.5763-2A>G;c.5763-2A>T;c.5765delC;c.5771C>A;c.5784dupT;c.5791delGinsCCT;c.5798G>A;c.5870_5871delAT;c.5893_5897delAAAAG;c.5890A>T;c.5894_5900dupAAAGTAT;c.5908C>T;c.5910delA;c.5919-2A>C;c.5919-2A>G;c.5932G>T;c.5935G>T;c.5944C>T;c.5948dupA;c.5959dupT;c.5971G>T;c.5979_5983delTAAAG;c.5982delA;c.6002T>G;c.6006+1G>A;c.6006+1G>C;c.6015dupC;c.6027C>G;c.6040G>T;c.6047A>G;c.6049dupA;c.6056A>G;c.6059delG;c.6080delT;c.6082C>T;c.6095G>A;c.6095+1G>A;c.6095+2T>C;c.6096-2A>G;c.6100C>T;c.6115G>A;c.6115G>T;c.6133delG;c.6154G>A;c.6181C>T;c.6198+1G>A;c.6198+2T>C;c.6199-2A>T;c.6200C>A;c.6222C>A;c.6228delT;c.6239_6240delAT;c.6238T>G;c.6272G>A;c.6289G>T;c.6311G>A;c.6312G>A;c.6326G>A;c.6327G>A;c.6347+1G>A;c.6348-2A>G;c.6348-1G>A;c.6373delC;c.6397C>T;c.6403_6404insCT;c.6404_6405insTT;c.6404dupT;c.6415_6416delGA;c.6433_6445delGAAAGTCTCAAAT;c.6435_6436delAA;c.6436dupA;c.6444dupA;c.6452+1G>T;c.6453-1G>C;c.6482_6483dupGC;c.6490G>T;c.6498_6499delGT;c.6572+1G>A;c.6573-2A>G;c.6586A>T;c.6615G>A;c.6628delC;c.6650_6657delTTAGTTTT;c.6657delT;c.6658C>T;c.6667delA;c.6673dupG;c.6679C>T;c.6725delC;c.6729_6730delAA;c.6752_6755dupTCAC;c.6754delA;c.6776_6777delCT;c.6850delG;c.6866_6867delCT;c.6867dupT;c.6908dupA;c.6913C>T;c.6916_6917delAG;c.6920_6923delTTGC;c.6975+1G>T;c.6976-2A>C;c.6976-2A>G;c.7000_7003delTACA;c.6997dupA;c.7010_7011delGT;c.7032G>A;c.7088delA;c.7089+1G>A;c.7089+1G>T;c.7089+2T>G;c.7091delC;c.7096G>T;c.7141_7151delAATGGAAAAAT;c.7166C>G;c.7181C>T;c.7189C>T;c.7220C>A;c.7240C>T;c.7262_7263delAA;c.7271T>G;c.7279_7284delCTTAGG;c.7293_7294delAA;c.7299_7302delGACA;c.7308-2A>C;c.7308-1G>C;c.7311C>A;c.7327C>T;c.7408T>G;c.7449G>A;c.7456C>T;c.7465_7466delTC;c.7517_7520delGAGA;c.7542T>G;c.7563C>G;c.7570G>C;c.7629_7629+4delTGTAA;c.7629+1G>A;c.7629+2T>C;c.7630-2A>C;c.7630-2A>G;c.7638_7646delTAGAATTTC;c.7665delCinsGTGA;c.7671_7674delGTTT;c.7699_7702delAACA;c.7701_7702delCA;c.7705_7706delGA;c.7708G>T;c.7767delA;c.7768C>T;c.7777C>T;c.7788+1G>T;c.7789-3T>G;c.7792C>T;c.7796delC;c.7838_7839dupGA;c.7875_7876delTGinsGC;c.7880delA;c.7913G>A;c.7921C>T;c.7926A>C;c.7927+1G>C;c.7927+5delG;c.7928-2A>G;c.7928-2A>T;c.7928-1G>A;c.7929delA;c.7951C>T;c.7967T>C;c.7989_7991delTGT;c.7985T>A;c.7988_7991delTTGT;c.7998dupT;c.8010+1delG;c.8011-1G>C;c.8011-1G>T;c.8048_8049delTA;c.8098A>T;c.8103_8104delAA;c.8122G>A;c.8140C>T;c.8146G>T;c.8147T>C;c.8149A>T;c.8152-2A>G;c.8152-1G>A;c.8185C>T;c.8204_8205dupGT;c.8206_8207dupAA;c.8213T>G;c.8218C>T;c.8251_8254delACTA;c.8264_8268delATAAG;c.8265T>G;c.8266A>T;c.8268+1G>T;c.8283_8284delTC;c.8287C>T;c.8288delG;c.8292_8293delTG;c.8293G>A;c.8305_8317delTGGTGCACAGGAA;c.8307G>A;c.8319_8323dupTGTCC;c.8321_8322delTCinsA;c.8325delC;c.8367delAinsTT;c.8371_8374delTACA;c.8373C>A;c.8395_8404delTTTCAGTGCC;c.8397delT;c.8403C>A;c.8418+5_8418+8delGTGA;c.8418+1G>A;c.8418+2T>C;c.8419-2A>G;c.8419-1G>C;c.8419G>T;c.8432delA;c.8432dupA;c.8431A>T;c.8435_8436delCT;c.8440delG;c.8473C>T;c.8476_8477dupAA;c.8480T>G;c.8484delA;c.8494C>T;c.8495G>C;c.8505C>A;c.8514dupA;c.8535G>A;c.8545C>T;c.8546G>C;c.8549T>A;c.8564delG;c.8565_8566delTGinsAA;c.8584+1G>A;c.8584+2T>C;c.8585-2A>C;c.8585-2A>G;c.8585-1G>A;c.8624dupA;c.8641C>T;c.8655dupT;c.8671+1G>T;c.8671+2T>C;c.8672-1G>C;c.8672-1G>T;c.8711A>G;c.8725A>T;c.8737G>T;c.8766dupT;c.8786+1G>A;c.8786+1G>C;c.8786+1G>T;c.8786+2T>A;c.8793T>A;c.8802delC;c.8814_8824delGAGAAACTCTC;c.8818_8821dupAACT;c.8823_8824delTC;c.8833_8834delCT;c.8835_8836delGT;c.8850+1G>A;c.8850+2T>C;c.8851-2A>G;c.8851-1G>T;c.8873_8874delTT;c.8876_8879delACTG;c.8879G>A;c.8880G>A;c.8903T>A;c.8911C>T;c.8942delA;c.8977C>T;c.8987+1G>C;c.8988-2A>C;c.8988-2A>G;c.8988-1G>A;c.8988-1G>C;c.8998C>T;c.9001_9002delAG;c.9019G>T;c.9021dupA;c.9022C>T;c.9023G>A;c.9047_9057delAACTGAAAGGA;c.9064dupG;c.9079dupA;c.9112delC;c.9139C>T;c.9145_9146delTT |
| ATP7A | Enfermedad de Menkes; Síndrome del cuerno occipital | Ligada al X | NM_000052.6 | c.408_415delCAATCAGA;c.422_423delAG;c.598C>T;c.601C>T;c.876delG;c.1006G>T;c.1020_1024dupGGGGC;c.1205delA;c.1225C>T;c.1355delT;c.1460C>A;c.1537G>T;c.1544-1G>A;c.1639C>T;c.1667_1668delTA;c.1707+1G>A;c.1782C>G;c.1831G>T;c.1870-1G>C;c.1874T>G;c.1885G>C;c.1933C>T;c.1946+1G>C;c.1947-1G>A;c.1947-1G>C;c.1950G>A;c.1974_1977dupGTTT;c.2160T>A;c.2172G>T;c.2173-2A>G;c.2179G>A;c.2179G>T;c.2187G>A;c.2248_2251dupATTG;c.2302delG;c.2383C>T;c.2395_2405delCATATAGCAAAinsAGCATC;c.2405_2406+1delAGGinsT;c.2498+2T>A;c.2499-1G>A;c.2555C>T;c.2645dupC;c.2694delG;c.2867G>A;c.2938C>T;c.2956C>T;c.2981C>T;c.3056G>A;c.3111+1G>A;c.3112-1G>A;c.3124delG;c.3257_3258delAC;c.3285T>G;c.3288C>A;c.3294+1G>T;c.3294+2T>G;c.3340delG;c.3379G>T;c.3466C>T;c.3473C>A;c.3502C>T;c.3537delA;c.3774delTinsATGACTGG;c.3775_3776delAAinsTTAC;c.3801+1G>T;c.3802-1G>T;c.3911A>G;c.3915_3921delCTCCCCA;c.3920delC;c.3920C>G;c.3943G>A;c.4005+1G>T;c.4006-1G>A;c.4123+1G>A;c.4132dupA;c.4156C>T;c.4352delG |
| ATP7B | Enfermedad de Wilson | Autosómica recesiva | NM_000053.3 | c.4195delC;c.4125-2A>G;c.4114C>T;c.4092_4093delGT;c.4088C>T;c.4058G>A;c.4051C>T;c.4039G>A;c.4022-2A>C;c.4021G>A;c.4006delA;c.3990_3993delTTAT;c.3992A>C;c.3955C>T;c.3948delG;c.3942_3943delCA;c.3904-2A>G;c.3895C>T;c.3886G>A;c.3818C>A;c.3818C>T;c.3809A>G;c.3800delA;c.3800A>C;c.3796G>A;c.3700-1G>A;c.3694A>C;c.3688A>G;c.3664delG;c.3662G>A;c.3659C>T;c.3649_3654delGTTCTG;c.3646G>A;c.3598C>T;c.3556+1G>A;c.3556+1G>T;c.3552dupT;c.3529C>T;c.3517G>A;c.3451C>T;c.3449delA;c.3443T>C;c.3436G>A;c.3402delC;c.3359T>A;c.3350_3353delAGCG;c.3317T>A;c.3305T>C;c.3301G>A;c.3295G>A;c.3284A>C;c.3263T>A;c.3244-2A>G;c.3243+1G>A;c.3236G>T;c.3207C>A;c.3191A>C;c.3182G>A;c.3157dupC;c.3147delC;c.3121C>T;c.3107dupT;c.3104G>T;c.3083delA;c.3053C>T;c.3011A>C;c.3008C>T;c.3007G>A;c.2998G>A;c.2975C>T;c.2972C>T;c.2963G>A;c.2962G>C;c.2953T>C;c.2930C>T;c.2906G>A;c.2905C>T;c.2901delC;c.2865+1G>A;c.2826_2832delCGGTTTT;c.2828G>A;c.2817G>T;c.2810delT;c.2807T>A;c.2804C>T;c.2795C>A;c.2755C>G;c.2755C>T;c.2743C>T;c.2731-2A>G;c.2730+1G>A;c.2621C>T;c.2605G>A;c.2576-2A>G;c.2575+1G>A;c.2575+1G>C;c.2570T>C;c.2532delA;c.2519C>T;c.2513delA;c.2447+2T>G;c.2438_2440delTAAinsAT;c.2428G>T;c.2383C>T;c.2356-1G>A;c.2356-1G>C;c.2356-2A>G;c.2336G>A;c.2335T>G;c.2333G>A;c.2333G>T;c.2332C>G;c.2332C>T;c.2304delC;c.2304dupC;c.2305A>G;c.2303C>T;c.2297C>G;c.2294A>G;c.2293G>A;c.2233_2234delCT;c.2217dupT;c.2165dupT;c.2157C>A;c.2149C>T;c.2145C>A;c.2131G>A;c.2128G>A;c.2123T>C;c.2122-1G>A;c.2122-8T>G;c.2097_2100delCTTT;c.2072G>T;c.2071G>A;c.2038C>T;c.2035delC;c.2009_2015delATATGCT;c.2000T>A;c.1946+6T>C;c.1934T>G;c.1924G>C;c.1877G>C;c.1847G>A;c.1846C>T;c.1820dupA;c.1782delT;c.1772G>A;c.1745_1746delTA;c.1739delA;c.1716delG;c.1708-1G>A;c.1708-1G>C;c.1708-2A>G;c.1708-5T>G;c.1639C>T;c.1605_1609dupGGTCA;c.1568T>A;c.1544-2A>C;c.1543+1G>T;c.1512dupT;c.1470C>A;c.1392dupG;c.1374_1377delAGTG;c.1372G>T;c.1340_1343delAAAC;c.1337_1338insTT;c.1285+2T>A;c.1145_1151delCCCAACT;c.1063C>T;c.994G>T;c.915T>A;c.865C>T;c.845delT;c.841C>T;c.813C>A;c.778dupC;c.738dupT;c.650T>G;c.562C>T;c.524_525delAA;c.525dupA;c.388_389dupGC;c.383delG;c.331C>T;c.314C>A;c.254G>T;c.174dupC;c.122A>G;c.111dupT;c.103A>T;c.52-1G>T;c.51+4A>T;c.19_20delCA |
| ATP8B1 | Colestasis intrahepática (CI) familiar progresiva tipo 1; CI recurrente benigna tipo 1 | Autosómica recesiva | NM_005603.4 | c.3410C>G;c.2854C>T;c.2674G>A;c.2599C>T;c.2286-2A>G;c.2097+2T>C;c.1993G>T;c.1982T>C;c.1804C>T;c.1660G>A;c.1367C>T;c.923G>T;c.863T>C;c.625C>A |
| B4GALT1 | Trastorno congénito de la glicosilación tipo 2D | Autosómica recesiva | NM_001497.3 | c.1031dupC |
| BBS1 | Síndrome de Bardet Bieldl tipo 1 | Autosómica recesiva | NM_024649.4 | c.17dupC;c.47+2T>C;c.48-3C>G;c.48-2A>C;c.48-1G>T;c.124+1G>A;c.124+1G>C;c.159+2T>A;c.182delC;c.223_224delCT;c.416G>A;c.432+1G>A;c.433-2A>G;c.436C>T;c.479+2T>G;c.480-1G>C;c.518+1G>A;c.519-2A>G;c.724-1G>C;c.786delG;c.831-2A>G;c.851delA;c.855C>A;c.871C>T;c.887delT;c.951+1G>A;c.952-1G>A;c.952-1G>C;c.952G>A;c.981delC;c.1012C>T;c.1072delT;c.1131_1135delCTTTG;c.1169T>G;c.1232_1235delGAGG;c.1240G>T;c.1285C>T;c.1318C>T;c.1340-2A>G;c.1340-1G>T;c.1405C>T;c.1423delC;c.1424dupT;c.1514_1515delTG;c.1609-2A>T;c.1642delC;c.1643dupT;c.1645G>T;c.1713delA |
| BBS10 | Síndrome de Bardet Bieldl tipo 10 | Autosómica recesiva | NM_024685.3 | c.2119_2120delGT;c.1856_1865delAAAAATGCCA;c.1767C>A;c.1677delC;c.1677C>A;c.1677C>G;c.1599_1602delAACT;c.1547delC;c.1542delA;c.1510_1511delAT;c.1495G>T;c.1448_1452delCTCAA;c.1244delA;c.1241T>C;c.1202G>A;c.1184dupA;c.11840>A;c.11380>A;c.1091delA;c.1044_1045delTT;c.1024dupA;c.10240>A;c.959_962delGTTA;c.931T>G;c.909_912delTCAG;c.858_859dupTC;c.859del0insTC;c.850C>T;c.728_731delAAGA;c.687delT;c.6460>G;c.590A>G;c.574C>T;c.539G>A;c.531C>A;c.378G>A;c.3650>A;c.361A>T;c.273C>G;c.271dupT;c.2710>T;c.235dupA;c.215del0insGT;c.198-1G>C;c.197+1G>T;c.164T>C;c.145C>T;c.101G>C;c.83_84delGCinsAG;c.39_46delGGCGTTGC;c.32T>G |
| BBS2 | Síndrome de Bardet Bieldl tipo 2 | Autosómica recesiva | NM_031885.3 | c.2107C>T;c.2060-1G>T;c.2038C>T;c.1969G>T;c.1946_1952delACCTTAA;c.1911-1G>A;c.1909_1910delAT;c.1895G>C;c.1864C>T;c.1814C>G;c.1797+1G>A;c.1780C>T;c.1770delT;c.1705C>T;c.1438C>T;c.1237C>T;c.1099dupC;c.1081-1G>T;c.1015C>T;c.941-1G>T;c.941-2A>C;c.940delA;c.823C>T;c.814C>T;c.806T>G;c.717+2T>G;c.717+1G>A;c.700C>T;c.646C>T;c.627_628delTT;c.565C>T;c.563delT;c.535-2A>G;c.534+1G>T;c.508G>A;c.472delG;c.472-2A>G;c.471+1G>A;c.416G>T;c.311A>C;c.263delG;c.224T>G;c.175C>T;c.118-1G>C;c.98C>A;c.72C>G |
| BCKDHA | Enfermedad de la orina con olor a jarabe de arce tipo 1A | Autosómica recesiva | NM_000709.3 | c.14delT;c.117delC;c.117dupC;c.127C>T;c.137C>A;c.143delT;c.288+1G>A;c.399delCinsAA;c.470A>C;c.476G>A;c.511delC;c.632C>T;c.647-1G>C;c.661_664delTACG;c.659C>T;c.718delG;c.741dupT;c.745G>A;c.797delA;c.844G>C;c.853G>C;c.853+1G>T;c.854-2A>G;c.861_868delAGGCCCCG;c.859C>T;c.868G>A;c.905A>C;c.909_910delGT;c.917delT;c.929C>G;c.940C>T;c.964C>T;c.979G>A;c.1008_1015delCAGCACCA;c.1036C>T;c.1037G>A;c.1119G>A;c.1168-2A>G;c.1198A>T;c.1226T>G;c.1234G>A;c.1310_1311delAC;c.1312T>A |
| BCKDHB | Enfermedad de la orina con olor a jarabe de arce tipo 1B | Autosómica recesiva | NM_000056.4 | c.3G>A;c.93_103delGGCGCGGGGCT;c.93_103dupGGCGCGGGGCT;c.196+1G>C;c.196+1G>T;c.197-2A>G;c.275-2A>G;c.281_291delTTGGTGAAGAT;c.302G>A;c.342T>G;c.343+2T>G;c.344-1G>A;c.348delA;c.356T>G;c.368delC;c.401T>A;c.403G>A;c.410C>T;c.479T>G;c.487G>T;c.488A>T;c.508C>A;c.508C>G;c.508C>T;c.509G>A;c.526A>T;c.547C>T;c.548G>C;c.554C>T;c.564T>A;c.592_593delCA;c.595_596delAG;c.616C>T;c.633+1G>A;c.633+1G>C;c.633+1G>T;c.730delT;c.742+1G>A;c.748G>T;c.752T>C;c.776delC;c.799C>T;c.811_824delGATGTTACTCTAGT;c.832G>A;c.840+1G>A;c.840+1G>T;c.840+2T>G;c.841-1G>C;c.853delC;c.853C>T;c.885delT;c.902T>G;c.952-2A>G;c.952-1G>A;c.964A>G;c.970C>T;c.1006G>A;c.1016C>T;c.1022T>A;c.1046G>A;c.1065delT;c.1114G>T;c.1149T>A |
| BCS1L | Síndrome de Leigh y trastornos asociados al gen BCS1L | Autosómica recesiva | NM_001079866.1 | c.103G>C;c.133C>T;c.148A>G;c.166C>T;c.232A>G;c.245C>A;c.296C>T;c.320+1G>T;c.349C>T;c.385G>A;c.418delC;c.431G>A;c.460+1G>A;c.460+2T>C;c.464G>C;c.534delC;c.547C>T;c.548G>A;c.550C>T;c.556C>T;c.598C>T;c.607dupA;c.625_626delAT;c.655+1G>A;c.696delT;c.772delG;c.821delC;c.830G>A;c.871C>T;c.889+1G>A;c.889+1G>T;c.901T>A;c.973dupC;c.980T>C;c.1007+2_1007+5delTAGG;c.1057G>A |
| BLM | Síndrome de Bloom | Autosómica recesiva | NM_000057.3 | c.2T>C;c.98+1G>A;c.98+1G>T;c.99-1G>C;c.205G>A;c.205G>T;c.213_214delTT;c.275delA;c.298_299delCA;c.311C>A;c.320dupT;c.443dupT;c.479_480delTT;c.557_559delCAA;c.581_582delTT;c.582delT;c.608_609delCA;c.662_665delCTGA;c.772_773delCT;c.835G>T;c.959+1_959+9delGTAAACTAG;c.991_995delAAAGA;c.1003_1006dupCTTA;c.1083_1084delTG;c.1087+1G>A;c.1088-2A>G;c.1088-1G>A;c.1129delG;c.1220+1G>A;c.1221-2A>C;c.1284G>A;c.1295dupC;c.1301C>G;c.1358T>G;c.1385delC;c.1429_1432delACAG;c.1462G>T;c.1479_1480delTA;c.1500delT;c.1544delA;c.1544dupA;c.1628T>A;c.1642C>T;c.1722_1725delAGCAinsGGC;c.1740delC;c.1752delT;c.1764_1777delGGAAGGTCGGCCAA;c.1795delA;c.1817_1820delACTG;c.1883-2A>G;c.1933C>T;c.1968dupG;c.1985_1986delAA;c.2074+1G>T;c.2098C>T;c.2193+1_2193+9delGTAAGTTAT;c.2193+2T>G;c.2206dupT;c.2207_2212delATCTGAinsTAGATTC;c.2250_2251insAAAT;c.2258T>A;c.2291_2292delAT;c.2308-2A>G;c.2343_2344dupGA;c.2406+2T>G;c.2407-1G>A;c.2407dupT;c.2488dupA;c.2506_2507delAG;c.2555+1G>T;c.2580_2581delTA;c.2643G>A;c.2662+2T>C;c.2663-2A>G;c.2695C>T;c.2720_2726delCGTTACA;c.2821C>T;c.2824-2A>T;c.2824-1G>C;c.2855G>T;c.2875C>T;c.2887C>T;c.2923delC;c.3014_3015insTATCA;c.3016_3017delAT;c.3022delG;c.3028delG;c.3107G>T;c.3164G>C;c.3191A>T;c.3197G>A;c.3210+2delT;c.3222_3223delAA;c.3223dupA;c.3255_3256insT;c.3261delT;c.3278C>G;c.3305_3306delAT;c.3400G>T;c.3415C>T;c.3439A>T;c.3475_3476delTT;c.3499delG;c.3558+1G>A;c.3558+1G>T;c.3559-1G>A;c.3566_3567delTT;c.3587delG;c.3638delA;c.3667dupA;c.3681delA;c.3692_3693delAA;c.3727dupA;c.3847C>T;c.3855C>A;c.3874+2T>C;c.3901delC;c.3917delG;c.3937G>T;c.3956delT;c.4000_4004delAGGAA |
| BSND | Síndrome de Bartter tipo 4A | Autosómica recesiva | NM_057176.2 | c.1A>T;c.3G>A;c.10G>T;c.22C>T;c.23G>T;c.35T>C;c.139G>A |
| BTD | Deficiencia de biotinidasa | Autosómica recesiva | NM_001281726.1;NM_001281723.2 | c.44+1G>A;c.44+1G>C;c.44+1G>T;c.104_110delGCGGCTGinsTCC;c.113dupA;c.124_125delCT;c.142G>T;c.166G>T;c.177T>G;c.190G>A;c.190G>T;c.196G>A;c.198G>C;c.208_211dupATCC;c.200A>G;c.241C>T;c.251C>A;c.263T>G;c.268C>T;c.272delA;c.284A>G;c.289C>T;c.304G>A;c.316-1G>T;c.316G>T;c.322C>T;c.329_330dupTA;c.332dupT;c.332T>G;c.340G>A;c.340G>C;c.347G>T;c.378_381dupCATT;c.388T>G;c.399delC;c.412delC;c.426G>A;c.430C>A;c.449G>A;c.451T>C;c.460A>C;c.461C>G;c.465G>A;c.472C>T;c.475C>T;c.476G>A;c.496_497delAG;c.517G>A;c.534G>T;c.550delA;c.563G>A;c.565C>T;c.589A>G;c.590A>G;c.593delC;c.593C>G;c.600delC;c.601G>A;c.632G>A;c.635A>G;c.637delC;c.637C>T;c.643delC;c.649C>T;c.652T>A;c.658G>C;c.660G>C;c.670G>A;c.670G>C;c.689A>G;c.699delC;c.707C>T;c.715G>A;c.740G>A;c.761A>G;c.764C>T;c.789C>G;c.800A>T;c.838C>G;c.842T>A;c.842T>G;c.871G>C;c.893T>G;c.901G>C;c.902C>T;c.904A>C;c.935G>A;c.938G>A;c.939delT;c.939T>G;c.1007T>A;c.1055delC;c.1058delC;c.1102_1103dupTC;c.1132C>T;c.1163G>A;c.1164G>A;c.1197_1198delGA;c.1213T>G;c.1233_1247delGGGAAAGGAAGGCTAinsTTCCAATGGCC;c.1245delC;c.1247_1258delATCTCCACGTCT;c.1270dupC;c.1281T>G;c.1290C>A;c.1320T>A;c.1330delG;c.1336G>C;c.1345C>T;c.1358_1359delGC;c.1358G>A;c.1367A>G;c.1374A>C;c.1378dupT;c.1390delA;c.1400dupG;c.1461C>G;c.1464delG;c.1465delT;c.1495C>T;c.1499dupT;c.1514_1518delGGATG;c.1563T>G;c.1601C>T;c.1618C>T;c.1622dupT |
| BTK | Agammaglobulinemia ligada al X (XLA) tipo 1 | Ligada al X | NM_001287344.1;NM_000061.2 | c.2008G>T;c.1991T>A;c.1990A>C;c.1940G>A;c.1922C>A;c.1882G>A;c.1875C>A;c.1868A>G;c.1862T>C;c.1859T>C;c.1843T>C;c.1790G>A;c.1790G>T;c.1787G>C;c.1786C>T;c.1775_1782delAATTTCCA;c.1734-2A>G;c.1733+1G>T;c.1727T>C;c.1683_1686delTTTG;c.1676G>A;c.1675C>T;c.1669-2A>T;c.1661G>A;c.1660C>G;c.1660C>T;c.1628T>C;c.1618T>C;c.1613A>T;c.1608C>A;c.1591C>T;c.1557C>A;c.1544G>C;c.1543T>A;c.1390A>G;c.1377C>A;c.1325T>C;c.1287G>A;c.1227T>G;c.1205G>A;c.1184A>G;c.1166T>A;c.1103A>C;c.1021A>G;c.997-2A>G;c.996+1G>A;c.965G>A;c.964C>T;c.942-1G>A;c.941+1G>A;c.879-2A>G;c.865C>T;c.857G>A;c.828dupT;c.820G>T;c.771T>A;c.755delA;c.744_745delTG;c.690+2T>A;c.690_690+1insCTACATAG;c.659dupA;c.574_577delACAG;c.571C>T;c.537C>A;c.491delA;c.473G>A;c.472T>C;c.440T>A;c.412-1G>C;c.412-2A>G;c.409C>T;c.380C>A;c.330_333delAAGA;c.317dupA;c.266C>A;c.263delG;c.221A>G;c.199A>C;c.185G>A;c.148C>T;c.145C>T;c.143C>A;c.139C>T;c.2T>C |
| CA2 | Osteopetrosis con acidosis tubular renal (osteopetrosis autosómica recesiva tipo 3) | Autosómica recesiva | NM_000067.2 | c.120T>G;c.232+1G>A;c.319C>T;c.663+2T>C |
| CAPN3 | Distrofia muscular de cinturas autosómica recesiva tipo 1 (LGMD R1) | Autosómica recesiva | NM_000070.2;NM_173088.1 | c.59delC;c.133G>A;c.145C>T;c.146G>A;c.223dupT;c.245C>T;c.257C>T;c.258dupT;c.310G>T;c.319G>T;c.327_328dupCC;c.328C>T;c.402delC;c.439C>T;c.483delG;c.499-1G>A;c.503G>A;c.509A>G;c.518G>A;c.533T>C;c.550delA;c.580delT;c.598_612delTTCTGGAGTGCTCTG;c.639dupT;c.640G>A;c.649G>A;c.664G>A;c.701G>A;c.717delT;c.741_751delCATGTACAAGA;c.742_743delAT;c.759_761delGAA;c.801+1G>A;c.802-9G>A;c.853dupG;c.855_864dupGTTGATTGCA;c.865C>T;c.883_886delGATAinsCTT;c.946-1G>A;c.956C>T;c.985G>A;c.1027G>T;c.1030-1G>A;c.1043delG;c.1063C>T;c.1069C>T;c.1079G>A;c.1080G>C;c.1115+1G>A;c.1115+2T>A;c.1115+2T>C;c.1118G>A;c.1127G>A;c.-3311A>G;c.1234G>T;c.1250C>T;c.1256A>G;c.1257T>G;c.1276_1277delCT;c.1292dupT;c.1298_1299delTG;c.1303G>A;c.1309C>T;c.1318C>T;c.1322delG;c.1319G>A;c.1333G>A;c.1342C>G;c.1342C>T;c.1343G>A;c.1355-1G>C;c.1373delC;c.1381C>T;c.1435A>G;c.1465C>T;c.1466G>A;c.1468C>T;c.1469G>A;c.1477C>T;c.1517T>C;c.1524+1G>A;c.1524+1G>T;c.1524+2T>C;c.1599_1602delGAGC;c.1611C>A;c.1621C>T;c.1622G>A;c.1636C>T;c.1642delC;c.1662C>G;c.1699G>T;c.1711delC;c.1714C>T;c.1715G>A;c.1722delC;c.1743_1744delTG;c.1771delG;c.1795dupA;c.1801-1G>A;c.1817C>T;c.1838delA;c.1855C>T;c.1858G>T;c.1863dupA;c.1882delA;c.1914+2T>C;c.1939G>T;c.1944_1945delTG;c.1948G>T;c.1957C>T;c.1981delA;c.1992+1G>T;c.1992+2T>A;c.1993-1G>A;c.1999dupG;c.2007T>A;c.2036_2037delCA;c.2050+1delG;c.2050+1G>A;c.2051-1G>C;c.2051-1G>T;c.2069_2070delAC;c.2092C>T;c.2105C>T;c.2115+1_2115+2dupGT;c.2115+1G>A;c.2115+2T>C;c.2120A>G;c.2134C>T;c.2179delT;c.2184+2T>C;c.2185-2A>G;c.2207_2208delCA;c.2212C>T;c.2242C>T;c.2243G>A;c.2251_2254dupGTCA;c.2263+1G>A;c.2279dupA;c.2288A>G;c.2290delG;c.2305C>T;c.2306G>A;c.2314_2317delGACA;c.2338G>C;c.2361_2362insTC;c.2362_2363delAGinsTCATCT;c.2380+1G>T;c.2381-2A>G;c.2381-1G>A;c.2393C>A;c.2440-2A>G;c.2440-1G>A |
| CBS | Homocistinuria por deficiencia de cistationina beta-sintasa | Autosómica recesiva | NM_000071.2 | c.1566delG;c.1552+1G>A;c.1545delG;c.1468-1G>A;c.1359-1G>C;c.1358+2T>C;c.1358+1G>A;c.1330G>A;c.1321A>T;c.1280C>T;c.1224-2A>C;c.1219_1223+8delCCCTGGTAAGACC;c.1223G>A;c.1221delC;c.1218delG;c.1150A>G;c.1136G>A;c.1111G>A;c.1109G>A;c.1087delG;c.1058C>T;c.1039G>A;c.1009_1012delATGC;c.1007G>A;c.1006C>T;c.992C>A;c.969G>A;c.959T>C;c.954+2T>G;c.954+1G>A;c.919G>A;c.904G>A;c.903C>G;c.833T>C;c.829-1G>C;c.828+1G>A;c.816T>A;c.797G>A;c.785C>T;c.770C>T;c.738delG;c.737-1G>C;c.736+2T>G;c.707_708delCCinsGGTG;c.700G>A;c.689delT;c.676G>A;c.667-14_667-7delCTCTTTCT;c.572C>T;c.532-2A>G;c.526G>T;c.502G>A;c.494G>A;c.467delT;c.451+1G>T;c.442G>A;c.434C>T;c.430G>A;c.415G>A;c.402delG;c.393G>C;c.374G>A;c.373C>T;c.362G>A;c.346G>A;c.341C>T;c.325T>C;c.316+1G>A;c.306G>C;c.302T>C;c.253G>A;c.233C>G;c.209+2T>C;c.209+1G>C;c.153_165delGTGCACCTGGCAG;c.162G>A;c.146C>T;c.28delG;c.19dupC |
| CD40LG | Síndrome de hiper-IgM tipo 1 (inmunodeficiencia ligada al X con hiper-IgM tipo 1) | Ligada al X | NM_000074.2 | c.31C>T;c.107T>G;c.189delT;c.216C>A;c.346+1delG;c.347-2A>G;c.368C>A;c.418T>G;c.419G>A;c.431G>A;c.440C>A;c.464T>C;c.506A>G;c.559delG;c.658C>T;c.680G>T;c.703G>C;c.719_720delAT;c.761C>T;c.767T>C |
| CDH23 | Sordera autosómica recesiva tipo 12; Síndrome de Usher tipo 1D | Autosómica recesiva | NM_022124.5 | c.46delG;c.146-2A>G;c.193delC;c.288+1G>A;c.288+1G>C;c.380A>G;c.478G>A;c.945+1G>A;c.945+1G>T;c.1036C>T;c.1037C>T;c.1428dupG;c.1675C>T;c.1858+2T>G;c.1949dupC;c.1987-1G>A;c.2012delT;c.2289+1G>A;c.3141C>A;c.3181G>A;c.3221-2A>G;c.3241C>T;c.3481C>T;c.3516_3519delATCC;c.3579+2T>C;c.3628C>T;c.3706C>T;c.3880C>T;c.4021G>A;c.4309C>T;c.4504C>T;c.5237G>A;c.5272C>T;c.5663T>C;c.5712+1G>A;c.5923+1G>A;c.6049+1G>A;c.6050-9G>A;c.6133G>A;c.6253+1G>A;c.6393delC;c.6402_6405delAGAG;c.6412delG;c.6442G>A;c.6604G>A;c.6614C>T;c.6667delC;c.6712+1G>A;c.6968delC;c.7054+1G>A;c.7225-1G>A;c.7362G>A;c.7483-1G>C;c.7660+1G>T;c.7776G>A;c.7873-2A>T;c.7908C>G;c.7921G>C;c.7979_7986delACTGGGAG;c.8064+1G>T;c.8222C>A;c.8770_8771insTGGCTGTA;c.8781C>A;c.9129delG;c.9556C>T;c.9629_9632delTCAA |
| CEP290 | Síndrome de Meckel tipo 4; Síndrome de Joubert tipo 5; Amaurosis congénita de Leber tipo 10 | Autosómica recesiva | NM_025114.3 | c.7341delA;c.7341dupA;c.7324G>T;c.7062_7063delGA;c.6939C>A;c.6869dupA;c.6798G>A;c.6645+1G>A;c.6624delG;c.6604delA;c.6516delA;c.6448_6455delCAGTTGAA;c.6364A>T;c.6358-1G>A;c.6277delG;c.6135+2T>A;c.6072C>A;c.5932C>T;c.5850delT;c.5803G>T;c.5707A>T;c.5704G>T;c.5668G>T;c.5649dupA;c.5611_5614delCAAA;c.5493delA;c.5434_5435delGA;c.5344C>T;c.5212G>T;c.5182G>T;c.5012+2T>C;c.4966_4967delGA;c.4966G>T;c.4962_4963delAA;c.4960C>T;c.4916C>A;c.4882C>T;c.4813-2A>G;c.4811G>A;c.4801C>T;c.4723A>T;c.4705-1G>T;c.4656delA;c.4621delA;c.4522C>T;c.4452_4455delAGAA;c.4438-3delC;c.4437+1G>A;c.4393C>T;c.4384delG;c.4276_4277delAA;c.4243G>T;c.3943G>T;c.3904C>T;c.3784_3785insTT;c.3777_3778delAG;c.3461+1G>A;c.3446_3447delAA;c.3190delA;c.3185delT;c.3181_3182delAT;c.3176delT;c.3175delA;c.3175dupA;c.3104-2A>G;c.3097A>T;c.3012delA;c.2991+1655A>G;c.2969delC;c.2941C>T;c.2911G>T;c.2722C>T;c.2668C>T;c.2251C>T;c.2248_2249delTT;c.2249T>G;c.2112delA;c.2052+1_2052+2delGT;c.1984C>T;c.1936C>T;c.1915G>T;c.1860_1863delAAGA;c.1860_1861delAA;c.1781T>A;c.1711+1G>A;c.1709C>G;c.1681C>T;c.1665_1666delAA;c.1666delA;c.1623+1G>A;c.1523-1G>T;c.1512_1515delAGAG;c.1501G>T;c.1474A>T;c.1451delA;c.1429C>T;c.1419_1423delAATAA;c.1219_1220delAT;c.1190-2A>G;c.1078C>T;c.1066-1G>A;c.828delA;c.673_674delTT;c.654T>G;c.613C>T;c.508A>T;c.451C>T;c.437delA;c.384_387delTAGA;c.381_382delAGinsT;c.289G>T;c.268A>T;c.181-2A>G;c.180+2T>A;c.180+1G>A;c.164_167delCTCA;c.103-1G>T;c.21G>T |
| CERKL | Retinosis pigmentaria tipo 26 | Autosómica recesiva | NM_001030311.2 | c.1425T>A;c.1381C>T;c.1090C>T;c.1045_1046delAT;c.858delT;c.847C>T;c.598A>T;c.481+2T>G;c.420delT;c.312delA;c.239-1G>A;c.239-2A>G |
| CFTR | Fibrosis quística | Autosómica recesiva | NM_000492.3 | c.1A>G;c.4C>T;c.11C>A;c.50delT;c.44T>C;c.53+1G>T;c.57G>A;c.79G>T;c.88C>T;c.115C>T;c.137C>A;c.164+1G>A;c.164+1G>T;c.164+2T>C;c.164+4dupT;c.165-3C>T;c.165-1G>A;c.166G>A;c.169T>G;c.170G>A;c.171G>A;c.174_177delTAGA;c.175dupA;c.178G>A;c.178G>T;c.200C>T;c.223C>T;c.233dupT;c.254G>A;c.262_263delTT;c.263T>A;c.263T>G;c.271G>A;c.273+1G>A;c.273+3A>C;c.274-2A>G;c.274-1G>A;c.274G>A;c.274G>T;c.292C>T;c.305T>G;c.310delA;c.313delA;c.325_327delTATinsG;c.328G>C;c.328G>T;c.349C>T;c.350G>A;c.350G>T;c.366T>A;c.409delC;c.413_415dupTAC;c.416A>G;c.442delA;c.445G>A;c.445G>T;c.446G>T;c.489+1G>T;c.531delT;c.532G>A;c.543_546delTAGT;c.571T>G;c.577G>T;c.579+1G>T;c.579+3A>G;c.579+5G>A;c.580-1G>T;c.595C>T;c.613C>T;c.617T>G;c.647G>A;c.658C>T;c.680T>G;c.695T>A;c.708delT;c.717delG;c.803delA;c.825C>G;c.828C>A;c.850dupA;c.861_865delCTTAA;c.935_937delTCT;c.933C>G;c.948delT;c.987delA;c.988G>T;c.1000C>T;c.1001G>T;c.1006_1007insG;c.1007T>A;c.1013C>T;c.1021_1022dupTC;c.1021T>C;c.1029delC;c.1037T>C;c.1040G>A;c.1040G>C;c.1055G>A;c.1075C>A;c.1079C>A;c.1081delT;c.1116+1G>A;c.1117-1G>A;c.1130dupA;c.1155_1156dupTA;c.1202G>A;c.1203G>A;c.1209+1G>A;c.1211delG;c.1240C>T;c.1301_1307delCACTTCT;c.1327_1330dupGATA;c.1340delA;c.1364C>A;c.1365_1366delGG;c.1393-2A>G;c.1393-1G>A;c.1397C>A;c.1397C>G;c.1400T>C;c.1418delG;c.1420G>A;c.1438G>T;c.1466C>A;c.1475C>T;c.1477_1478delCA;c.1477C>T;c.1487G>A;c.1505T>C;c.1519_1521delATC;c.1521_1523delCTT;c.1538A>G;c.1545_1546delTA;c.1558G>T;c.1572C>A;c.1573C>T;c.1584+1G>A;c.1585-8G>A;c.1585-1G>A;c.1624G>T;c.1645A>C;c.1646G>A;c.1647T>G;c.1648G>T;c.1650delA;c.1651G>A;c.1652G>A;c.1654C>T;c.1657C>T;c.1670delC;c.1673T>C;c.1675G>A;c.1679G>A;c.1679G>C;c.1679+1G>A;c.1679+1G>C;c.1680-886A>G;c.1680-1G>A;c.1682C>A;c.1692delA;c.1703delT;c.1705T>G;c.1721C>A;c.1753G>T;c.1766+1G>A;c.1766+1G>C;c.1766+1G>T;c.1766+3A>G;c.1766+5G>T;c.1792_1798delAAAACTA;c.1826A>G;c.1882G>C;c.1923_1931delCTCAAAACTinsA;c.1973_1985delGAAATTCAATCCTinsAGAAA;c.1986_1989delAACT;c.2012delT;c.2017G>T;c.2052delA;c.2052dupA;c.2051_2052delAAinsG;c.2053dupC;c.2053C>T;c.2125C>T;c.2128A>T;c.2143C>T;c.2158C>T;c.2175dupA;c.2195T>G;c.2215delG;c.2241_2248delGATACTGC;c.2290C>T;c.2353C>T;c.2374C>T;c.2423_2424dupAT;c.2453delT;c.2463_2464delTG;c.2464G>T;c.2490+1G>A;c.2491G>T;c.2537G>A;c.2538G>A;c.2547C>A;c.2551C>T;c.2583delT;c.2589_2599delAATTTGGTGCT;c.2601dupA;c.2645G>A;c.2657+5G>A;c.2658-1G>C;c.2668C>T;c.2735C>A;c.2737_2738insG;c.2739T>A;c.2763_2764dupAG;c.2780T>C;c.2810dupT;c.2825delT;c.2834C>T;c.2869_2870insG;c.2875delG;c.2896delA;c.2908G>C;c.2930C>T;c.2936A>T;c.2988G>A;c.2988+1G>A;c.2989-2A>G;c.2989-1G>A;c.3002_3003delTG;c.3011_3019delCTATAGCAG;c.3017C>A;c.3039delC;c.3039dupC;c.3067_3072delATAGTG;c.3107C>A;c.3124C>T;c.3139_3139+1delGG;c.3140-26A>G;c.3160C>G;c.3181G>C;c.3194T>C;c.3196C>T;c.3197G>A;c.3205G>A;c.3209G>A;c.3230T>C;c.3266G>A;c.3276C>A;c.3276C>G;c.3292T>C;c.3293G>A;c.3294G>A;c.3294G>C;c.3294G>T;c.3302T>A;c.3302T>G;c.3304A>T;c.3310G>T;c.3353C>T;c.3368-2A>G;c.3435G>A;c.3454G>C;c.3468G>A;c.3468+5G>A;c.3472C>T;c.3484C>T;c.3528delC;c.3532_3535dupTCAA;c.3536_3539delCCAA;c.3587C>G;c.3605delA;c.3611G>A;c.3612G>A;c.3659delC;c.3691delT;c.3700A>G;c.3717+4A>G;c.3717+5G>A;c.3717+40A>G;c.3718-2477C>T;c.3718-3T>G;c.3718-1G>A;c.3719T>G;c.3731G>A;c.3744delA;c.3747delG;c.3752G>A;c.3761T>G;c.3763T>C;c.3764C>A;c.3773dupT;c.3846G>A;c.3848G>T;c.3873+1G>A;c.3873+2T>C;c.3883_3886delATTT;c.3883delA;c.3889dupT;c.3891dupT;c.3908delA;c.3909C>G;c.3937C>T;c.3971T>C;c.4036_4042delCTAAGCC;c.4046G>A;c.4077_4080delTGTTinsAA;c.4086dupT;c.4111G>T;c.4127_4131delTGGAT;c.4144C>T;c.4147dupA;c.4197_4198delCT;c.4231C>T;c.4234C>T;c.4242+1G>A;c.4242+1G>T;c.4251delA;c.4300_4301dupAG;c.4426C>T |
| CHAT | Síndrome miasténico presináptico congénito tipo 6 | Autosómica recesiva | NM_020549.4 | c.406G>A;c.418C>T;c.620G>A;c.1642C>T |
| CHM | Coroideremia | Ligada al X | NM_000390.3 | c.1771-1G>A;c.1609+2T>A;c.1584_1587delTGTT;c.1497C>A;c.1484C>A;c.1471G>T;c.1437dupA;c.1342C>T;c.1334C>G;c.1218C>A;c.1213C>T;c.1144G>T;c.1138C>T;c.1019C>A;c.969T>A;c.877C>T;c.820-2A>G;c.808C>T;c.799C>T;c.757C>T;c.715C>T;c.649_652delTACT;c.525_526delAG;c.315_318delTCAG;c.280delA;c.133G>T;c.130G>T;c.116+1G>A;c.116+1G>T;c.49+1G>T |
| CHRNE | Síndrome miasténico congénito de canal rápido tipo 4B ; Síndrome miasténico congénito asociado con deficiencia del receptor de acetilcolina tipo 4C | Autosómica recesiva | NM_000080.3 | c.1327delG;c.1326+1G>A;c.1291G>C;c.1181_1187dupTGTTTGA;c.1161_1162insT;c.1093delG;c.1090dupC;c.1033-1G>C;c.1033-2A>T;c.1030delC;c.991C>T;c.971delT;c.918-1G>A;c.905C>G;c.865C>T;c.850A>C;c.794delC;c.794C>T;c.764C>T;c.721C>T;c.614_620delGGGCCAT;c.500G>T;c.422C>T;c.421C>A;c.344+1G>A;c.250C>T;c.223T>C;c.183_187dupCTCAC;c.130dupG |
| CLN3 | Lipofuscinosis neuronal ceroide tipo 3 | Autosómica recesiva | NM_000086.2 | c.1272delG;c.1247A>G;c.1198-1G>T;c.1195G>T;c.1116C>G;c.1059C>A;c.1056G>C;c.1054C>T;c.1048delC;c.1001G>A;c.1000C>T;c.988G>A;c.988G>T;c.979C>T;c.963-1G>A;c.963-1G>T;c.963-2A>C;c.962+1G>A;c.949C>T;c.944dupA;c.906+2T>A;c.883G>A;c.883G>T;c.816_817delGG;c.791-1G>A;c.784A>T;c.750delG;c.683dupT;c.677+1G>T;c.631C>T;c.622dupT;c.597C>A;c.586dupG;c.569delG;c.565G>C;c.558_559delAG;c.560G>C;c.533+1G>A;c.533+1G>C;c.509T>C;c.494G>A;c.485C>G;c.482C>G;c.472G>C;c.461-1G>A;c.461-1G>C;c.424delG;c.400T>C;c.378_379dupCC;c.379delC;c.374G>A;c.371_372insT;c.370dupT;c.302T>C;c.295-2A>C;c.281_282delCT;c.265C>T;c.240delG;c.233dupG;c.223-1G>A;c.222+2T>G;c.214C>T;c.195dupC;c.141delC;c.126-1G>A;c.105G>A;c.49G>T;c.47-1G>A;c.46+1G>A;c.46+1G>C;c.17delG;c.1A>C |
| CLN5 | Lipofuscinosis neuronal ceroide tipo 5 | Autosómica recesiva | NM_006493.2 | c.225G>A;c.291dupC;c.335G>C;c.377G>A;c.433C>T;c.518delG;c.524T>G;c.526dupA;c.527_528insA;c.565C>T;c.575A>G;c.593T>C;c.595C>T;c.613C>T;c.620G>C;c.669dupC;c.672delG;c.671G>A;c.694C>T;c.712+1G>A;c.822G>A;c.835G>A;c.919delA;c.924_925delAT;c.1026C>A;c.1054G>T;c.1071_1072delCT;c.1072_1073delTT;c.1083delT;c.1103_1106delAACA;c.1121A>G;c.1175_1176delAT |
| CLN6 | Lipofuscinosis neuronal ceroide tipo 6 | Autosómica recesiva | NM_017882.2 | c.898T>C;c.890delC;c.665+1G>A;c.665G>A;c.663C>G;c.552dupC;c.543G>A;c.542+1G>T;c.498dupT;c.486+2T>C;c.486+1G>A;c.407G>A;c.395_396delCT;c.316dupC;c.297+1G>A;c.268_271dupAACG;c.214G>T;c.200T>C;c.198+1G>A;c.167G>A;c.150C>G;c.84-1G>A;c.83+2T>G;c.7delG |
| CLN8 | Lipofuscinosis neuronal ceroide tipo 8 | Autosómica recesiva | NM_018941.3 | c.47delT;c.66delG;c.88delG;c.88G>C;c.204delC;c.226C>T;c.227A>G;c.263delA;c.283A>T;c.306G>A;c.312G>A;c.415C>T;c.470A>G;c.473A>G;c.499G>T;c.509C>T;c.543+1G>T;c.544-2A>G;c.562_563delCT;c.581A>G;c.610C>T;c.709G>A;c.763C>T;c.766C>G;c.789G>C |
| CLRN1 | Síndrome de Usher tipo 3A | Autosómica recesiva | NM_001195794.1;NM_001256819.1 | c.669_670insT;c.658C>T;c.630dupT;c.567T>G;c.541dupA;c.372delT;c.540C>A;c.301_305delGTCAT;c.189C>A;c.149_152delCAGGinsTGTCCAAT;c.144T>G;c.118T>G;c.92C>T |
| CNGB3 | Acromatopsia tipo 3 | Autosómica recesiva | NM_019098.4 | c.2359delA;c.2221delG;c.2103+1G>A;c.2086C>T;c.2048_2049delCA;c.2011G>T;c.1937delT;c.1929-2A>G;c.1928+2T>C;c.1908delG;c.1815delT;c.1810C>T;c.1782-2A>C;c.1781+1delG;c.1781+1G>A;c.1781+1G>C;c.1662+1G>A;c.1635T>A;c.1579-1G>A;c.1579-2A>G;c.1578+1G>A;c.1578+1G>T;c.1566_1569dupCGAC;c.1534delAinsGT;c.1516delG;c.1493delT;c.1481-2A>C;c.1480+1G>A;c.1460G>A;c.1447T>G;c.1432C>T;c.1430_1431delAGinsC;c.1426C>T;c.1366delC;c.1304C>T;c.1299_1300delGT;c.1285delT;c.1285dupT;c.1260delT;c.1255G>T;c.1243C>T;c.1208G>A;c.1194T>G;c.1179-2A>T;c.1148delC;c.1119G>A;c.1098_1101dupTAAT;c.1063C>T;c.1056-2A>G;c.1005dupT;c.1006G>T;c.904-2A>T;c.893_897delCAAAA;c.887_896delCTTCTACAAA;c.886_896delACTTCTACAAAinsT;c.886_890delACTTC;c.882C>G;c.873delGinsCAAAC;c.852+1G>C;c.819_826delCAGACTCC;c.791_794delACCT;c.756C>G;c.702_706delTTTTAinsGTTTTT;c.706delAinsTT;c.702T>A;c.682dupG;c.646C>T;c.644-1G>C;c.643+2T>C;c.607C>T;c.589_590delTT;c.567delG;c.556_559delAGGC;c.494-2A>T;c.446_447insT;c.412delA;c.393_394delGCinsTCCTGGTGA;c.391C>T;c.301C>T;c.281_284delCAAC;c.265C>T;c.257delC;c.220_221delTC;c.208C>T;c.190delG;c.163dupA;c.130-1G>T;c.129+2T>C;c.112C>T;c.95dupA;c.31dupG;c.29dupA;c.3G>A;c.2T>C |
| COL4A3 | Síndrome de Alport autosómico recesivo tipo 2 | Autosómica recesiva | NM_000091.4 | c.2T>C;c.279+1G>A;c.325-1G>A;c.345delG;c.388-1G>T;c.391G>T;c.468+1G>A;c.468+1G>T;c.547-1G>T;c.645+2T>C;c.663_664delAG;c.713dupC;c.765+2T>C;c.829-2A>C;c.898G>A;c.949_950delAG;c.1201G>A;c.1216C>T;c.1354G>A;c.1504+1G>A;c.1758+1G>A;c.1918G>A;c.1927+2T>C;c.1928-1G>A;c.2031_2038dupATCCCTGG;c.2083G>A;c.2111delC;c.2215G>A;c.2223+1G>A;c.2371C>T;c.2417dupC;c.2452G>A;c.2535delC;c.2621_2622delGAinsT;c.2747-1G>C;c.2768_2778delTAAAGGGCCAG;c.2838_2839delGA;c.2881+1G>T;c.2954G>T;c.3068_3069delCA;c.3070+2T>C;c.3109C>T;c.3148C>T;c.3210+1G>A;c.3211-1G>C;c.3244_3247delAAAG;c.3250G>T;c.3499G>A;c.3751+1G>A;c.3829G>A;c.3883-2A>G;c.4347_4353delCCGACAC;c.4420_4424delCTTTT;c.4441C>T;c.4486C>T;c.4546C>T;c.4571C>G;c.4640+1G>A;c.4756-1G>A;c.4803delT;c.4819G>T;c.4825C>T;c.4872C>G;c.4994G>A |
| COL4A4 | Síndrome de Alport autosómico recesivo tipo 2 | Autosómica recesiva | NM_000092.4 | c.4923C>A;c.4809+1G>A;c.4768C>T;c.4760delC;c.4715C>T;c.4679_4683delGCCCC;c.4623C>G;c.4599T>G;c.4429G>T;c.4394G>A;c.4333+2T>C;c.4129C>T;c.4002_4005dupACCA;c.3967C>T;c.3734G>T;c.3713C>A;c.3601G>A;c.3222dupA;c.3151-2A>G;c.2969-1G>C;c.2967_2968delAG;c.2906C>G;c.2878G>A;c.2690G>A;c.2638delG;c.2546-1G>C;c.2545+2T>G;c.2420delG;c.2320G>C;c.2312delG;c.2279dupG;c.1889delC;c.1697-1G>A;c.1696+1G>A;c.1696+1G>T;c.1623+1G>A;c.1405G>T;c.1369+1G>A;c.1118G>A;c.1100-2A>C;c.1045C>T;c.1030-1G>C;c.1030-2A>C;c.1029+2T>C;c.975+1G>A;c.975+1G>C;c.871-1G>C;c.673_680delCCAGGGCG;c.657+1G>T;c.594+1G>A;c.489+1G>A;c.372+2T>G;c.328-1G>A;c.114+1G>C;c.71+1G>A;c.71G>A |
| COL7A1 | Epidermólisis ampollosa distrófica (EAD) tipo Hallopeau-Siemens (HS) y tipo no-HS; EAD pruriginosa; EAD pretibial | Autosómica recesiva; Autosómica recesiva* | NM_000094.3 | c.8524_8527+10delGAAGGTGAGGACAG;c.8479C>T;c.8440C>T;c.8393T>A;c.8371C>T;c.8329C>T;c.8245G>A;c.7957G>A;c.7930-1G>C;c.7912G>T;c.7865G>A;c.7864C>T;c.7828C>T;c.7723G>A;c.7557+1G>T;c.7462C>T;c.7411C>T;c.7345-1G>A;c.7012C>T;c.6946G>A;c.6900+1G>A;c.6859G>A;c.6781C>T;c.6770G>C;c.6752G>A;c.6724G>A;c.6724G>C;c.6670G>T;c.6656dupT;c.6573+1G>T;c.6527dupC;c.6218G>T;c.6205C>T;c.6190G>A;c.6187C>T;c.6127G>A;c.6127G>T;c.6118G>A;c.6110G>A;c.6109G>A;c.6101G>C;c.6100G>A;c.6091G>A;c.6081delC;c.6082G>A;c.6074delG;c.6022C>T;c.6017G>A;c.6007G>A;c.5932C>T;c.5924_5927delAACG;c.5821-1G>A;c.5797C>T;c.5701-1G>T;c.5532+1G>A;c.5443G>A;c.5425-1G>C;c.5344G>A;c.5287C>T;c.5261dupC;c.5096C>T;c.5052+1G>A;c.5048_5051dupGAAA;c.5047C>T;c.5015delA;c.4980+1G>C;c.4919delG;c.4888C>T;c.4871delC;c.4783G>C;c.4767delA;c.4568delC;c.4466delG;c.4373C>T;c.4233delT;c.4119+1G>T;c.4039G>C;c.4027C>T;c.4011+1G>A;c.3971delT;c.3942dupG;c.3840delC;c.3831+1G>T;c.3751_3752insACCA;c.3631C>T;c.3504delC;c.3265C>T;c.3140-1G>A;c.2993-2A>G;c.2710+2T>C;c.2607_2608delCC;c.2471dupG;c.2318_2321dupCTGA;c.2223_2226dupTGGA;c.2005C>T;c.1781-1G>C;c.1732C>T;c.1637-1G>A;c.1573C>T;c.933C>A;c.887delG;c.751C>T;c.706C>T;c.682+1G>A;c.553C>T;c.497dupA;c.425A>G;c.409C>T;c.336C>G;c.58C>T;c.1A>G |
| COLQ | Síndrome miasténico congénito tipo 5 | Autosómica recesiva | NM_005677.3 | c.1321A>G;c.1228C>T;c.1082delC;c.943C>T;c.844A>T;c.788dupC;c.718G>T;c.679C>T;c.640G>T;c.529-2A>G;c.506C>G;c.393+1G>A;c.157dupC |
| CPS1 | Deficiencia de carbamoil fosfato sintetasa 1 | Autosómica recesiva | NM_001122633.2 | c.144+1G>A;c.148C>T;c.254+1G>T;c.319delA;c.505G>T;c.612_613delGA;c.729+1G>C;c.730C>T;c.781G>T;c.816delG;c.1028A>G;c.1104+1G>A;c.1105-1G>T;c.1205C>A;c.1330G>C;c.1431dupC;c.1547delG;c.1649C>T;c.1778G>A;c.1930C>T;c.1931G>C;c.1944delC;c.2179C>T;c.2211-1G>T;c.2245delC;c.2357G>A;c.2377C>T;c.2409+1G>A;c.2410-1G>T;c.2425C>A;c.2447A>G;c.2827_2828delAT;c.2901_2913delCTACAATGGTCAG;c.2963G>A;c.3159+1G>A;c.3203delA;c.3393delC;c.3574delA;c.3577-2A>G;c.3802C>T;c.4020+2T>A;c.4021-2A>T;c.4021-1G>C;c.4074delC;c.4119+2T>C;c.4292+2T>C |
| CPT1A | Deficiencia de carnitina palmitoiltransferasa tipo 1A | Autosómica recesiva | NM_001876.3 | c.2129G>A;c.2071C>T;c.2028+2T>G;c.1997_1998insAAAA;c.1876-1G>A;c.1876-1G>C;c.1737C>A;c.1711C>T;c.1600delC;c.1576-2A>G;c.1575+1G>A;c.1494T>A;c.1494T>G;c.1459-1G>A;c.1458+1G>A;c.1436C>T;c.1425G>A;c.1393G>T;c.1386delC;c.1361A>G;c.1348_1352+4delGACAGGTAC;c.1339C>T;c.1298delA;c.1241C>T;c.1216C>T;c.1163+2T>C;c.1163+1G>A;c.1079A>G;c.967+2T>C;c.967+1G>A;c.948delG;c.919C>T;c.772-1G>A;c.772-2A>G;c.771+1G>C;c.727C>T;c.694-2A>G;c.693+1G>C;c.693+1G>T;c.548_549delTG;c.478C>T;c.335_336delCC;c.298C>T;c.282-1G>A;c.281+1G>A;c.222C>A;c.186G>A;c.96T>G |
| CPT2 | Deficiencia de carnitina palmitoiltransferasa tipo 2, forma neonatal letal; Deficiencia de carnitina palmitoiltransferasa tipo 2, forma infantil | Autosómica recesiva | NM_000098.2 | c.38delG;c.98delA;c.110_111dupGC;c.149C>A;c.338C>T;c.359A>G;c.370C>T;c.401_404delTTAT;c.452G>A;c.464dupT;c.520G>A;c.520G>T;c.606T>A;c.638A>G;c.670delA;c.680C>T;c.725_726delAC;c.748_749delAA;c.852delC;c.879_880delTG;c.886C>T;c.1046dupA;c.1046_1047delAC;c.1053G>A;c.1148T>A;c.1237C>T;c.1239_1240delGA;c.1324dupA;c.1345C>T;c.1345delCinsTA;c.1348A>T;c.1359_1362delAGAA;c.1360G>T;c.1369A>T;c.1375C>T;c.1414C>T;c.1432C>T;c.1436A>T;c.1437C>G;c.1446_1447delAG;c.1545_1548delCTTT;c.1614C>A;c.1645+2T>G;c.1737delC;c.1784delC;c.1883A>C;c.1891C>T;c.1925_1937delAGGCCTTAGAAGA |
| CRB1 | Retinosis pigmentaria tipo 12; Amaurosis congénita de Leber tipo 8 | Autosómica recesiva | NM_201253.2 | c.257_258dupTG;c.498_506delAATTGATGG;c.584G>T;c.613_619delATAGGAA;c.799_800delGCinsA;c.807dupA;c.998G>A;c.1180T>C;c.1182C>A;c.1183G>T;c.1459dupT;c.1576C>T;c.1612_1613insCTTA;c.2220dupC;c.2222T>C;c.2234C>T;c.2290C>T;c.2330_2336delCAAACTC;c.2401A>T;c.2416G>T;c.2501G>A;c.2548G>A;c.2688T>A;c.2783G>A;c.2843G>A;c.2869C>T;c.2983G>T;c.3055_3059dupTATAT;c.3122T>C;c.3172G>T;c.3299T>C;c.3299T>G;c.3307G>A;c.3383delT;c.3419T>A;c.3541T>C;c.3542dupG;c.3676G>T;c.3988delG;c.3997G>T;c.4121_4130delCAACTCAGGG |
| CRTAP | Osteogénesis imperfecta tipo 7 | Autosómica recesiva | NM_006371.4 | c.118_133delGAGCTGATGCCGCTCGinsTACCC;c.118G>T;c.180G>A;c.471+2C>A;c.561T>G;c.634C>T;c.826C>T |
| CTNS | Cistinosis nefropática | Autosómica recesiva | NM_001031681.2 | c.-19-1G>A;c.18_21delGACT;c.40delC;c.61+1G>A;c.62-2A>G;c.91dupG;c.120delC;c.206_210delTCCTT;c.225+1G>A;c.251delA;c.257_258delCT;c.283G>T;c.292dupA;c.320_323delATCA;c.323delA;c.329G>T;c.329+2T>C;c.357_360delCAGC;c.382C>T;c.397_398delAT;c.414G>A;c.416C>T;c.506G>A;c.516dupC;c.519_520delCA;c.544T>C;c.561+1delG;c.589G>A;c.646dupA;c.681+2T>C;c.682-1G>A;c.696_697dupCG;c.696dupC;c.734G>A;c.751_754delACCAinsCG;c.829dupA;c.853-3C>G;c.853-2A>G;c.853-1G>A;c.870C>G;c.890G>A;c.926dupG;c.922G>A;c.969C>G;c.971-12G>A;c.1015G>A |
| CTSD | Lipofuscinosis neuronal ceroide tipo 10 | Autosómica recesiva | NM_001909.4 | c.1155_1169dupGGGCGACGTCTTCAT;c.1149G>C;c.764dupA;c.685T>A;c.446G>T;c.299C>T;c.268dupC |
| CTSK | Picnodisostosis | Autosómica recesiva | NM_000396.3 | c.990A>G;c.934C>G;c.934C>T;c.926T>C;c.876G>A;c.784+1G>A;c.721C>T;c.679_680insAA;c.669delG;c.648delC;c.618+1G>A;c.568C>T;c.436G>C;c.426delT;c.400-1G>C;c.395dupA;c.289_290delCT;c.236G>A;c.213T>A;c.154A>T;c.121-2A>G;c.120+1G>A;c.48delG;c.3G>A |
| CYBA | Enfermedad granulomatosa crónica autosómica recesiva por deficiencia de CYBA | Autosómica recesiva | NM_000101.3 | c.354C>A;c.7C>T |
| CYBB | Enfermedad granulomatosa crónica ligada al cromosoma X | Ligada al X | NM_000397.3 | c.23_26dupAGGG;c.80_83delTCTG;c.85delT;c.90_92delCCGinsGGT;c.141+1G>T;c.170C>A;c.210dupA;c.217C>T;c.271C>T;c.301C>T;c.302A>G;c.337+1G>T;c.343C>T;c.388delC;c.448G>T;c.469C>T;c.483+1G>T;c.484-2A>T;c.532A>C;c.565_568delATTA;c.607G>T;c.625C>T;c.626A>G;c.676C>T;c.731G>C;c.742dupA;c.781C>T;c.868C>T;c.898-2A>C;c.907C>A;c.907C>T;c.911C>G;c.960delA;c.1006G>T;c.1011G>A;c.1140dupG;c.1166G>C;c.1169C>T;c.1223G>A;c.1244C>A;c.1272G>A;c.1315-1G>A;c.1449G>A;c.1498G>C;c.1499A>G;c.1573delA;c.1609T>C;c.1618delG |
| CYP1B1 | Glaucoma congénito primario tipo 3A | Autosómica recesiva | NM_000104.3 | c.1405C>T;c.1345delG;c.1330C>T;c.1302G>A;c.1200_1209dupTCATGCCACC;c.1159G>A;c.1064_1076delGAGTGCAGGCAGA;c.1063_1075delCGAGTGCAGGCAG;c.868dupC;c.830delT;c.535delG;c.171G>A;c.2T>C |
| CYP27A1 | Xantomatosis cerebrotendinosa | Autosómica recesiva | NM_000784.3 | c.11_20dupTGGGCTGCGC;c.5dupC;c.73delG;c.256-2A>G;c.256-1G>T;c.305delC;c.355delC;c.373_379delCCAGTAC;c.380G>A;c.446+1G>A;c.446+1G>T;c.475C>T;c.526delG;c.583G>T;c.646+1G>C;c.646+2T>C;c.647-1G>T;c.666_678delCGAGAAACGCATT;c.691C>T;c.745C>T;c.752C>A;c.779G>A;c.808C>T;c.819delT;c.844+1G>A;c.845-2A>G;c.845-1G>A;c.847A>T;c.850A>T;c.863delA;c.886C>T;c.944_948delTGGCC;c.1016C>T;c.1072C>T;c.1180_1181delCT;c.1183C>T;c.1184G>A;c.1184+1G>A;c.1185-2A>C;c.1185-2A>T;c.1185-1G>A;c.1185-1G>T;c.1214G>A;c.1222G>T;c.1263+1G>A;c.1263+2T>C;c.1264-2A>G;c.1264-1G>A;c.1381C>T;c.1415G>C;c.1420C>T;c.1421G>A;c.1435C>G;c.1435C>T;c.1477-2A>C;c.1573C>T |
| DBT | Enfermedad de la orina con olor a jarabe de arce tipo 2 | Autosómica recesiva | NM_001918.3 | c.1448G>T;c.1355A>G;c.1281+1G>A;c.1165_1166delAC;c.1033G>A;c.1017+1delG;c.939G>C;c.901C>T;c.871C>T;c.827T>G;c.773-2A>G;c.772+1G>A;c.731delC;c.725C>G;c.670G>T;c.634C>T;c.581C>G;c.555+1G>A;c.434-1G>A;c.433+1G>T;c.360delA;c.360dupA;c.339_345delTTATGAT;c.294C>G;c.272_275delCAGT;c.251G>A;c.141_142delTA;c.126T>G;c.75_76delAT;c.51+1G>T |
| DCLRE1C | Síndrome de Omenn; Inmunodeficiencia combinada grave tipo Athabascan | Autosómica recesiva | NM_001033855.2 | c.1669dupA;c.1639G>T;c.1558dupA;c.1350_1356delAGATTGT;c.780+1delG;c.597C>A;c.403G>A;c.241C>T;c.194C>T;c.103C>G;c.2T>C |
| DDB2 | Xerodermia pigmentosa grupo de complementación E | Autosómica recesiva | NM_000107.2 | c.730A>G;c.818G>A;c.919G>T;c.937C>T |
| DHCR7 | Síndrome de Smith-Lemli-Opitz | Autosómica recesiva | NM_001163817.1 | c.1426T>C;c.1396G>A;c.1342G>A;c.1337G>A;c.1328G>A;c.1228G>A;c.1222T>C;c.1210C>T;c.1139G>A;c.1138T>C;c.1057delG;c.1055G>A;c.1054C>T;c.976G>T;c.964-1G>C;c.964-1G>T;c.963+2T>G;c.963+1G>T;c.939G>A;c.934_935delGT;c.915C>G;c.907G>A;c.906C>G;c.894C>A;c.870G>A;c.866C>T;c.862G>A;c.858G>A;c.841G>A;c.839A>G;c.832-1G>C;c.831+2T>A;c.804delT;c.744G>T;c.740C>T;c.730G>A;c.725G>A;c.724C>T;c.627-1G>A;c.626+1G>C;c.626+1G>T;c.506C>T;c.470T>C;c.461C>G;c.461C>T;c.453G>A;c.452G>A;c.440G>A;c.413-1G>A;c.413-2A>G;c.356A>T;c.322-2A>G;c.292C>T;c.278C>T;c.151C>T;c.111G>A;c.99-1G>C;c.89G>C;c.82C>T;c.16C>T;c.3G>A;c.1A>G |
| DHDDS | Retinosis pigmentaria tipo 59 | Autosómica recesiva | NM_024887.3 | c.124A>G;c.192G>A;c.330delA;c.998C>G |
| DLD | Deficiencia de dihidrolipoamida deshidrogenasa | Autosómica recesiva | NM_000108.4 | c.39+1G>A;c.82delT;c.104dupA;c.105delC;c.105_106insA;c.105C>G;c.112C>T;c.118+1G>T;c.140T>C;c.198+1G>A;c.199-1G>A;c.214A>G;c.223dupA;c.268-2A>G;c.633dupA;c.685G>T;c.803_804delAG;c.865dupA;c.916_926delTGTGATGTACT;c.1081A>G;c.1123G>A;c.1178T>C;c.1236+1G>T;c.1429_1432delTGTG;c.1436A>T;c.1446_1447delAG;c.1463C>T;c.1483A>G |
| DOK7 | Secuencia deformante de aquinesia fetal tipo 3; Síndrome miasténico congénito tipo 10 | Autosómica recesiva | NM_001301071.1 | c.55-1G>T;c.331+1G>T;c.481G>A;c.513C>T;c.539G>C;c.548_551delTCCT;c.596delT;c.601C>T;c.957delC;c.1124_1127dupTGCC;c.1138dupG;c.1143dupC;c.1263dupC;c.1339_1342dupCTGG;c.1378dupC |
| DOLK | Trastorno congénito de la glicosilación tipo 1M | Autosómica recesiva | NM_014908.3 | c.2T>C |
| DPAGT1 | Trastorno congénito de la glicosilación tipo 1J; Síndrome miasténico congénito tipo 13 | Autosómica recesiva | NM_001382.3 | c.980_981delCT;c.791T>G;c.699dupC;c.643+1G>A;c.358C>A;c.349G>A;c.324G>C;c.26dupT |
| DPM1 | Trastorno congénito de la glicosilación tipo 1E | Autosómica recesiva | NM_001317034.1 | c.847T>C;c.784-1G>T;c.733delC;c.669-1G>A;c.331_343delGGAAACTACATCA;c.274C>G |
| DPYD | Deficiencia de dihidropirimidina deshidrogenasa | Autosómica recesiva | NM_000110.3 | c.2921A>T;c.2767-1G>A;c.2754delT;c.2748delG;c.2680A>T;c.2622+1G>A;c.2589dupA;c.2554C>T;c.2335_2338delACCTinsGC;c.2286_2287insA;c.2275C>T;c.2135delC;c.2058+1G>C;c.2039dupT;c.2003delA;c.1970delC;c.1905+1G>A;c.1863G>A;c.1831G>T;c.1727delT;c.1681C>T;c.1679T>G;c.1671delA;c.1524+1G>A;c.1518delC;c.1379dupG;c.1340-2A>G;c.1339+1G>T;c.1316delG;c.1311delC;c.1243G>T;c.1109_1110delTA;c.1041_1042delTG;c.910delT;c.851-1G>C;c.763-2A>G;c.762+2T>C;c.680+1G>A;c.661G>T;c.523delT;c.483+1G>T;c.322-1G>C;c.299_302delTCAT;c.233+1G>T;c.232A>T;c.220C>T;c.208C>T;c.150+2T>A;c.127_134delAGAAATCC;c.61C>T |
| DYSF | Distrofia muscular de Miyoshi tipo 1; Distrofia muscular de cinturas autosómica recesiva tipo 2 (LGMD R2) | Autosómica recesiva | NM_001130987.1;NM_001130978.1 | c.92-1G>A;c.110_111delAA;c.159G>A;c.167dupA;c.203_204delTGinsAT;c.240-1G>A;c.268C>T;c.334C>T;c.342delA;c.356delT;c.361C>T;c.386G>A;c.396_397delCC;c.404C>T;c.410delC;c.460+1G>A;c.622C>T;c.682dupC;c.706C>T;c.727A>G;c.757C>T;c.759+1G>C;c.797G>A;c.851C>T;c.853C>T;c.886G>T;c.888+1G>A;c.888+2T>A;c.889-2A>G;c.892_893delCT;c.922delG;c.951+1delG;c.951+2T>G;c.952-2A>G;c.991G>A;c.991G>T;c.1003-2A>G;c.1033+1G>A;c.1033+2T>C;c.1149+1G>A;c.1167delC;c.1225C>T;c.1264G>A;c.1273C>T;c.1277-2A>C;c.1350delC;c.1372G>A;c.1380+2T>C;c.1381-2A>G;c.1449+1G>A;c.1464C>A;c.1471dupA;c.1488dupA;c.1493G>A;c.1493+1G>A;c.1494-2A>G;c.1494-1G>A;c.1530delC;c.1544C>A;c.1480G>T;c.1576+1G>A;c.1481-1G>A;c.1517C>G;c.1577-2A>G;c.1577-1G>A;c.1609G>A;c.1674delA;c.1692+2T>A;c.1693-6T>A;c.1696delG;c.1696dupG;c.1717C>T;c.1762C>T;c.1812C>G;c.1867C>T;c.1888C>T;c.1906G>A;c.1915G>A;c.1927G>T;c.2010G>A;c.2217-2A>G;c.2217-1G>T;c.2302C>T;c.2344G>T;c.2365C>T;c.2378G>A;c.2409+1G>A;c.2426dupC;c.2426C>G;c.2550_2553delGACA;c.2548C>T;c.2697+1G>A;c.2698-2A>G;c.2826G>A;c.2833delG;c.2864+1G>A;c.2864+2T>A;c.2865-2A>C;c.2924_2928delAGACC;c.2923C>T;c.2929C>T;c.2948G>A;c.3051G>T;c.3085+1G>T;c.3085+2T>C;c.3095A>G;c.3105dupC;c.3166C>T;c.3167G>A;c.3191G>A;c.3229-2A>T;c.3284G>A;c.3361A>T;c.3381_3382delGT;c.3403-2A>G;c.3421_3422delAA;c.3483delC;c.3498_3499delTGinsAA;c.3498T>A;c.3531C>A;c.3532C>T;c.3558dupC;c.3566_3567delCT;c.3570_3571delTT;c.3571dupT;c.3655C>T;c.3695delC;c.3741C>A;c.3757-2A>G;c.3762delA;c.3824G>A;c.3827delT;c.3859G>T;c.3886C>T;c.3897+1G>A;c.3941C>G;c.3957+1delG;c.3957+2T>A;c.3969delA;c.4011delC;c.4042C>T;c.4144C>T;c.4162_4163delGT;c.4221+1G>C;c.4254dupC;c.4282C>T;c.4307G>A;c.4353C>G;c.4387+2T>A;c.4462C>T;c.4528-2A>G;c.4551G>A;c.4576G>T;c.4614delT;c.4701C>G;c.4802dupT;c.4843C>T;c.4873C>T;c.4909A>T;c.4911+1G>T;c.4989_4993delGCCCGinsCCCC;c.5003+1249G>T;c.5004-1G>A;c.5011G>T;c.5086G>T;c.5135delA;c.5139delT;c.5174+1G>A;c.5174+2T>C;c.5194C>T;c.5195G>A;c.5200C>T;c.5317+1G>A;c.5318A>G;c.5383C>T;c.5419C>T;c.5457+1G>A;c.5458-2A>C;c.5458-1G>A;c.5467C>T;c.5531dupC;c.5546G>A;c.5546+1G>T;c.5546+2T>A;c.5614G>T;c.5626G>A;c.5642G>A;c.5642+1G>A;c.5646G>A;c.5711delG;c.5724G>A;c.5761C>T;c.5784+1G>A;c.5785-7G>A;c.5785-1G>C;c.5815_5816delAG;c.5830C>T;c.5884+1G>A;c.5885-1G>C;c.5938A>T;c.5953_5956delCAGC;c.6001C>T;c.6021G>A;c.6025C>T;c.6063+1G>A;c.6064-1G>C;c.6096dupA;c.6099_6106dupGAGTGAGC;c.6109G>T;c.6139G>T;c.6174-2A>G;c.6241C>T;c.6251G>A;c.6252G>A |
| EDA | Displasia ectodérmica hipohidrótica tipo 1 ligada al X | Ligada al X | NM_001399.4 | c.2T>C;c.67C>T;c.164T>A;c.181T>C;c.183C>G;c.187G>A;c.193C>G;c.245delG;c.396+1G>A;c.396+2T>C;c.396+2T>G;c.457C>T;c.463C>T;c.466C>T;c.467G>A;c.467G>T;c.502+1G>A;c.527-2A>T;c.573_574insT;c.599dupC;c.628G>T;c.671G>C;c.676C>T;c.706+1G>A;c.707-1G>A;c.730C>T;c.755A>T;c.764G>A;c.766C>T;c.769G>C;c.776C>A;c.794A>G;c.809delT;c.822delG;c.822G>A;c.822G>T;c.826C>T;c.827G>T;c.865C>T;c.866G>A;c.871G>A;c.872G>A;c.895G>A;c.902A>G;c.911A>C;c.917A>G;c.922G>T;c.923A>G;c.961G>T;c.991C>T;c.1013C>T;c.1045G>A;c.1067C>T;c.1072C>G;c.1094T>C;c.1133C>T;c.1137C>A;c.1144G>A |
| EIF2B5 | Leucoencefalopatía con sustancia blanca evanescente | Autosómica recesiva | NM_003907.2 | c.166T>G;c.167T>G;c.241G>A;c.271A>G;c.338G>A;c.380T>C;c.583C>T;c.584G>A;c.808G>C;c.896G>A;c.925G>C;c.944G>A;c.1010A>G;c.1016G>A;c.1030C>T;c.1157G>T;c.1882T>C;c.1946T>C |
| EMD | Distrofia muscular de Emery-Dreifuss tipo 1 ligada al X | Ligada al X | NM_000117.2 | c.1A>G;c.3G>A;c.82+1G>T;c.83-2A>G;c.103G>T;c.123C>A;c.130C>T;c.153dupC;c.184dupT;c.187+1G>T;c.239_240insT;c.251_255delTCTAC;c.266-2A>G;c.355C>T;c.419T>A;c.430G>T;c.450-2A>G;c.484C>T;c.512C>A;c.547C>A;c.548C>A;c.600G>A;c.607delC;c.621delG;c.631_635delCGTGC;c.650_654dupTGGGC;c.674_678delTCTGG |
| ERCC2 | Tricotiodistrofia tipo 1 | Autosómica recesiva | NM_000400.3 | c.2230_2233dupCTAG;c.2176C>T;c.2164C>T;c.2092C>T;c.2048G>A;c.2047C>T;c.2046+1G>T;c.2041G>A;c.2005delA;c.1972C>T;c.1906C>T;c.1847G>C;c.1846C>T;c.1703_1704delTT;c.1666-2A>T;c.1621A>C;c.1454T>C;c.1381C>G;c.1354C>T;c.1308-1G>A;c.950-2A>G;c.949+1G>A;c.719-1G>A;c.594+2_594+5delTGAG;c.567G>A;c.335G>A;c.183+2T>A |
| ERCC3 | Tricotiodistrofia tipo 2 | Autosómica recesiva | NM_000122.1 | c.1858delG;c.1757_1758delAG;c.1757delA;c.1633C>T;c.1421dupA;c.1273C>T;c.355A>C;c.325C>T;c.296T>C |
| ERCC5 | Síndrome cerebro-óculo-facio-esquelético tipo 3 | Autosómica recesiva | NM_000123.3 | c.83C>A;c.88+2T>C;c.215C>A;c.381-2A>G;c.406C>T;c.464dupA;c.526C>T;c.787C>T;c.1115_1118delGGAA;c.1173dupT;c.1494delA;c.2144dupA;c.2353C>T;c.2375C>T;c.2573T>C;c.2678+1G>A;c.2751delA;c.2766dupA;c.2878G>T;c.2904G>C;c.2929_2930delCT |
| ESCO2 | Síndrome de Roberts | Autosómica recesiva | NM_001017420.2 | c.252_253delAT;c.294_297delGAGA;c.296_297dupGA;c.307_311delAAAGA;c.308_309delAA;c.417dupA;c.505C>T;c.604C>T;c.745_746delGT;c.751dupG;c.760delA;c.760dupA;c.764_765delTT;c.876_879delCAGA;c.879_880delAG;c.894delAinsTTTTAT;c.911dupA;c.955+2_955+5delTAAG;c.1111dupA;c.1111_1112insG;c.1131+1G>A;c.1132-7A>G;c.1263+1G>C;c.1269G>A;c.1461_1462delAG;c.1597dupT;c.1615T>G;c.1674-2A>G |
| ETFA | Acidemia glutárica tipo 2A | Autosómica recesiva | NM_000126.3 | c.797C>T;c.667C>T;c.625C>T;c.470T>G;c.346G>A |
| ETFB | Acidemia glutárica tipo 2B | Autosómica recesiva | NM_001014763.1 | c.887_889delAGA;c.764G>A;c.655G>A;c.551_552insG;c.334C>T;c.278_279insG |
| ETFDH | Acidemia glutárica tipo 2C | Autosómica recesiva | NM_004453.3 | c.2T>C;c.51dupT;c.121C>T;c.157A>T;c.175+1G>C;c.250G>A;c.302_303dupGT;c.380T>A;c.380T>C;c.413T>G;c.462C>G;c.524G>A;c.524G>T;c.560C>T;c.1001T>C;c.1073G>A;c.1130T>C;c.1234G>T;c.1285+1G>A;c.1366C>T;c.1367C>T;c.1448C>T;c.1570_1571delCT;c.1601C>T;c.1809G>A;c.1823delG;c.1832G>A |
| ETHE1 | Encefalopatía etilmalónica | Autosómica recesiva | NM_014297.4 | c.604dupG;c.602_603delCA;c.595+2T>G;c.592dupC;c.554T>G;c.505+1G>A;c.505+1G>C;c.505+1G>T;c.494A>G;c.488G>A;c.487C>G;c.487C>T;c.440_450delACAGCATGGCC;c.230delA;c.226+1G>T;c.221dupA;c.187C>T;c.131_132delAG;c.113A>G;c.66delC;c.34C>T;c.3G>T |
| EYS | Retinosis pigmentaria tipo 25 | Autosómica recesiva | NM_001292009.1 | c.9468T>A;c.9362_9365delCTCA;c.9349_9358delGTAAATATCG;c.9340_9341dupGG;c.9249_9250delCA;c.9099delT;c.8868C>A;c.8711_8718delCATGCAGA;c.8692_8695dupACAG;c.8632G>T;c.8471dupA;c.8439_8442dupTGCA;c.8218_8219delCA;c.8196_8200delCTTTC;c.8012T>A;c.7919G>A;c.7822C>T;c.7694delA;c.7654delG;c.7229-1G>A;c.7095T>G;c.7048delT;c.6976C>T;c.6937C>T;c.6794delC;c.6714delT;c.6545delA;c.6528C>A;c.6502G>T;c.6229_6238delGTTGATGCTT;c.6170delA;c.6137G>A;c.6102dupT;c.5928-3_5928-1delCAG;c.5928-2A>G;c.5857G>T;c.5757dupT;c.5408C>G;c.5202_5203delGT;c.5167_5168delTT;c.5014C>T;c.4957dupA;c.4829_4832delCATT;c.4610_4611delGA;c.4462_4469dupAGCCCCTC;c.4395_4402dupTCAAGAGG;c.4393dupG;c.4387delA;c.4350_4356delTATAGCT;c.4120C>T;c.4045C>T;c.3775C>T;c.3443+1G>T;c.2976T>A;c.2826_2827delAT;c.2620C>T;c.2259+1G>A;c.2194C>T;c.2137+1G>A;c.2055T>A;c.1750G>T;c.1673G>A;c.1345A>T;c.1211delA;c.1211dupA;c.1161delA;c.881C>G;c.571dupA;c.490C>T;c.232delT;c.179delT;c.103C>T |
| F8 | Hemofilia A | Ligada al X | NM_000132.3 | c.7033_7040delTGCGAGGC;c.7034G>A;c.7031G>A;c.7030G>A;c.7030G>T;c.7021G>T;c.7016G>T;c.7012delC;c.6997delG;c.6996G>A;c.6995G>C;c.6988delC;c.6986C>T;c.6977G>A;c.6977G>T;c.6976C>G;c.6976C>T;c.6968G>A;c.6967C>T;c.6956C>T;c.6955C>T;c.6914_6918delATCAA;c.6915delT;c.6905T>C;c.6904T>G;c.6901-2A>G;c.6900+1G>A;c.6887delA;c.6870G>A;c.6869G>T;c.6857_6867delATGGCCATCAG;c.6865C>T;c.6842T>C;c.6839T>C;c.6836T>C;c.6836T>G;c.6825T>A;c.6804delA;c.6797delG;c.6797G>A;c.6794_6795delAG;c.6796G>A;c.6794A>G;c.6780_6788delAGGAGTAAC;c.6786_6787insCAA;c.6760delC;c.6760C>T;c.6752T>A;c.6746T>G;c.6744G>T;c.6743G>C;c.6740_6741delAG;c.6738delA;c.6739G>T;c.6699delG;c.6683G>A;c.6683G>T;c.6682C>G;c.6682C>T;c.6631G>C;c.6574+5G>C;c.6574+3A>C;c.6574+1G>A;c.6574+1G>T;c.6565_6566delGA;c.6554T>C;c.6551A>T;c.6548T>G;c.6545G>A;c.6544C>G;c.6544C>T;c.6537C>G;c.6533G>A;c.6533G>T;c.6532C>T;c.6520C>G;c.6518C>T;c.6515C>A;c.6515C>G;c.6506G>A;c.6501delC;c.6497delG;c.6496C>T;c.6494delC;c.6489delT;c.6488T>G;c.6482C>A;c.6482C>T;c.6477delT;c.6469_6470delAA;c.6464_6465delAA;c.6465delA;c.6449A>T;c.6430-3C>G;c.6412_6413delTC;c.6413C>A;c.6404G>C;c.6403C>T;c.6371A>G;c.6360T>G;c.6278A>G;c.6273+1G>A;c.6269T>A;c.6263C>T;c.6253G>T;c.6250A>T;c.6243G>C;c.6242G>C;c.6239C>T;c.6213A>T;c.6194G>A;c.6193T>C;c.6136dupA;c.6134G>T;c.6130delC;c.6120T>A;c.6116-2A>G;c.6115+6T>A;c.6115+4A>G;c.6115+3G>T;c.6115+2T>C;c.6115+1G>A;c.6113A>G;c.6107A>G;c.6103G>A;c.6099delT;c.6089dupG;c.6084delG;c.6078_6079delTG;c.6070dupC;c.6049delG;c.6046C>G;c.6046C>T;c.6037G>A;c.6016G>T;c.5999G>C;c.5964_5967dupGGAG;c.5960_5961delAA;c.5961delA;c.5953delC;c.5954G>C;c.5953C>T;c.5939A>C;c.5938C>T;c.5936G>T;c.5934T>G;c.5923dupA;c.5924T>A;c.5914_5915delAT;c.5900G>A;c.5894G>T;c.5888T>C;c.5884T>G;c.5882G>A;c.5881T>A;c.5879G>A;c.5879G>T;c.5878C>T;c.5869C>T;c.5861_5866delCTCAGG;c.5853A>C;c.5833A>G;c.5825G>T;c.5822A>G;c.5821A>G;c.5816C>A;c.5766C>A;c.5752delT;c.5721C>G;c.5719dupA;c.5719A>T;c.5712G>C;c.5710G>A;c.5697delC;c.5696dupT;c.5689_5690delCT;c.5686G>C;c.5680G>A;c.5677C>T;c.5675dupT;c.5674G>A;c.5622dupT;c.5618C>G;c.5600A>G;c.5593G>A;c.5593G>T;c.5558C>T;c.5533A>C;c.5530C>T;c.5526G>A;c.5479A>T;c.5443C>T;c.5422C>T;c.5408C>A;c.5399G>A;c.5398C>G;c.5398C>T;c.5348_5357delGAGCAGAAGT;c.5345T>G;c.5343T>A;c.5339C>T;c.5337delG;c.5336G>A;c.5330T>C;c.5325G>C;c.5323T>G;c.5321A>T;c.5308G>A;c.5305G>A;c.5301C>A;c.5291A>G;c.5269delT;c.5269T>C;c.5254delG;c.5251A>T;c.5243delA;c.5227_5228delAG;c.5220-1G>A;c.5183A>G;c.5167G>A;c.5143C>G;c.5143C>T;c.5113C>T;c.5012G>A;c.5010delT;c.4999delC;c.4996C>T;c.4987A>T;c.4979C>T;c.4969C>T;c.4942C>T;c.4935G>A;c.4934G>A;c.4926delA;c.4922dupT;c.4918G>T;c.4899delT;c.4895delT;c.4895dupT;c.4864G>A;c.4858delC;c.4848delC;c.4841delA;c.4828G>T;c.4825delA;c.4825dupA;c.4814C>A;c.4805_4806delAA;c.4806delA;c.4798A>T;c.4794G>T;c.4770T>A;c.4767_4768insATAACCAA;c.4719_4729delTGCAAAGACTC;c.4720delG;c.4712_4715delAAAG;c.4694_4697delTTCT;c.4687delG;c.4686delA;c.4662_4663delGA;c.4658delA;c.4619delT;c.4561C>T;c.4542delT;c.4519delA;c.4512delG;c.4492_4496delGTTCT;c.4492_4493delGT;c.4492delG;c.4483delG;c.4483G>T;c.4474A>T;c.4473C>A;c.4473C>G;c.4460delA;c.4450delA;c.4446dupG;c.4430_4431delAG;c.4425_4426delAA;c.4423C>T;c.4408G>T;c.4382_4383delAC;c.4379delA;c.4363C>T;c.4345G>T;c.4339delG;c.4339dupG;c.4328_4331delAAGA;c.4318delT;c.4296_4300delTTCTC;c.4280delT;c.4272delC;c.4265_4266delAT;c.4242dupA;c.4241C>A;c.4201C>T;c.4199delC;c.4156C>T;c.4121_4124delTAGA;c.4103delC;c.4094_4100delATTTGAC;c.4072C>T;c.4045delA;c.4035delA;c.4006C>T;c.3994_3997delAGAG;c.3991_3992delAA;c.3984dupA;c.3982C>T;c.3967C>T;c.3964C>T;c.3922G>T;c.3913C>T;c.3907_3911delACCAA;c.3902delA;c.3870dupA;c.3863dupC;c.3860delT;c.3851_3852delCA;c.3842_3844delAGAinsGG;c.3844A>T;c.3833delA;c.3830delC;c.3827C>G;c.3772delT;c.3766G>T;c.3756delG;c.3735_3744delCCTTTTCTTAinsATTTCTTTTTCTTT;c.3736delC;c.3710delC;c.3692delC;c.3652delG;c.3637delA;c.3631A>T;c.3624delT;c.3607G>T;c.3565dupA;c.3548_3549delAA;c.3500dupA;c.3496A>T;c.3493G>T;c.3490delT;c.3421C>T;c.3416_3417delCT;c.3417dupT;c.3409_3410delCT;c.3388delA;c.3385delC;c.3371C>A;c.3344delT;c.3302_3303delAG;c.3300delA;c.3298A>T;c.3289C>T;c.3251C>G;c.3224delC;c.3203_3204delGA;c.3196C>T;c.3169G>A;c.3152delT;c.3150_3151insTC;c.3144G>A;c.3091_3094delAAGA;c.3053delA;c.3034G>C;c.3031A>T;c.2962_2963delAG;c.2945dupA;c.2412_2421delCTCCTCTAGT;c.2419dupA;c.2409delT;c.2404C>T;c.2397delT;c.2384_2388delGAACA;c.2383A>T;c.2373dupG;c.2360delA;c.2167G>A;c.2149C>T;c.2102_2106delTGGAA;c.2097G>A;c.2096T>A;c.2095A>C;c.2095A>G;c.2095A>T;c.2089_2090delGT;c.2090T>A;c.2066T>G;c.2058_2059delAC;c.2060T>C;c.2057C>G;c.2044G>T;c.2032A>T;c.2029T>C;c.2015_2017delTCT;c.2000delT;c.1996_1999delGACT;c.1996_1999dupGACT;c.1990_1991delCA;c.1991A>C;c.1988C>T;c.1985G>C;c.1965C>G;c.1958T>C;c.1957G>A;c.1952A>C;c.1947_1950delTTTG;c.1941_1944delAGTT;c.1934A>C;c.1913G>A;c.1912G>A;c.1904-1G>A;c.1904-37G>A;c.1892A>G;c.1834C>T;c.1814A>C;c.1812G>C;c.1808G>T;c.1804C>T;c.1754T>C;c.1752+5G>C;c.1750C>A;c.1748A>G;c.1736A>T;c.1730C>T;c.1729T>C;c.1726G>T;c.1703G>T;c.1688C>G;c.1682A>C;c.1682A>G;c.1681G>A;c.1675G>T;c.1667T>A;c.1661G>A;c.1660A>G;c.1653T>G;c.1649G>A;c.1648C>G;c.1648C>T;c.1640G>A;c.1639T>C;c.1636C>T;c.1630G>A;c.1619C>G;c.1618C>A;c.1596dupG;c.1596G>A;c.1595G>A;c.1594T>G;c.1585A>G;c.1560delT;c.1538-1G>T;c.1538-2A>T;c.1492G>A;c.1481T>C;c.1477A>G;c.1463C>G;c.1463C>T;c.1443+3A>C;c.1443+2T>C;c.1442_1443dupTG;c.1443+1G>A;c.1432G>A;c.1420G>T;c.1418A>G;c.1417T>C;c.1410_1413delTTTA;c.1406G>C;c.1400T>G;c.1397G>A;c.1394C>G;c.1390G>T;c.1357G>T;c.1350C>A;c.1348T>A;c.1348T>G;c.1338delA;c.1336dupC;c.1337G>A;c.1337G>C;c.1336C>T;c.1331_1332delAA;c.1331_1332delAAinsT;c.1331A>C;c.1331A>G;c.1325A>G;c.1324T>A;c.1324T>C;c.1316G>A;c.1311delG;c.1301G>A;c.1293delG;c.1293G>T;c.1234T>C;c.1226A>G;c.1214T>G;c.1207C>G;c.1203G>A;c.1200_1201delTT;c.1202G>A;c.1197_1198delAA;c.1189dupC;c.1175C>A;c.1175C>G;c.1172G>C;c.1165delC;c.1077_1080delTGAA;c.1078_1079delGA;c.1063C>T;c.1043G>C;c.1042T>C;c.1026T>A;c.985dupT;c.986G>A;c.986G>C;c.986G>T;c.984delT;c.985T>C;c.980T>C;c.974_975delTT;c.967G>A;c.948_951delAACA;c.943delG;c.941C>T;c.940A>G;c.935delT;c.935T>C;c.923C>T;c.919delA;c.920T>G;c.907delG;c.902G>A;c.902G>C;c.902G>T;c.899A>C;c.899A>T;c.896A>T;c.889delG;c.886C>T;c.883T>C;c.881C>T;c.872A>G;c.871G>T;c.854T>G;c.849delT;c.850G>A;c.850G>T;c.836T>A;c.832G>A;c.824A>G;c.822G>A;c.797G>A;c.796G>T;c.788-1G>A;c.788-1G>C;c.788-1G>T;c.788-2A>T;c.787+2T>C;c.787G>C;c.779C>G;c.775A>T;c.770_771insCC;c.764G>A;c.760A>T;c.755C>A;c.729delT;c.709C>T;c.695_698delAGAA;c.688_689delGA;c.685_686delTC;c.680G>A;c.676A>T;c.665A>T;c.592T>G;c.577G>A;c.571C>T;c.566C>A;c.566C>T;c.560T>A;c.557A>G;c.556G>A;c.554A>C;c.553A>G;c.545A>T;c.541G>A;c.535T>C;c.532C>G;c.525C>A;c.519_523delTACCT;c.514_515insTCAAGATA;c.515G>A;c.514T>C;c.493C>T;c.491G>T;c.489T>A;c.476T>C;c.472C>T;c.471G>A;c.446delC;c.440T>A;c.435_436insTTT;c.433G>C;c.430G>T;c.421G>T;c.415C>T;c.410C>T;c.407A>C;c.405T>A;c.404A>G;c.403G>A;c.398A>G;c.396A>C;c.388G>C;c.364_365delGT;c.350T>G;c.328A>G;c.323A>C;c.311T>A;c.296T>A;c.275G>T;c.270delG;c.266G>A;c.265+1G>T;c.265G>A;c.255_257delACC;c.250A>G;c.230T>C;c.224delA;c.225T>A;c.223G>T;c.217T>C;c.214G>A;c.209_212delTTGT;c.209T>C;c.201_202dupGA;c.203C>A;c.199_200delAA;c.201G>T;c.200A>C;c.199A>G;c.195C>A;c.185C>G;c.173delC;c.144-5C>G;c.144-11T>G;c.144-26A>T;c.143+1G>A;c.120delC;c.104A>G;c.98G>A;c.97T>G;c.89A>T;c.88G>A;c.86T>G;c.77T>C;c.77T>G;c.65G>C;c.43C>T;c.1A>G;IVS22 INV (Type 1/2) |
| F9 | Hemofilia B | Ligada al X | NM_000133.3 | c.82T>C;c.141T>A;c.148G>A;c.169C>T;c.218A>T;c.223C>T;c.224G>A;c.237A>C;c.253-1G>C;c.277+2T>C;c.278A>G;c.287A>C;c.301C>G;c.316G>A;c.328G>A;c.329A>G;c.479G>C;c.484C>T;c.496A>T;c.519dupA;c.540_541delAG;c.571C>T;c.572G>A;c.655C>T;c.676C>T;c.677G>A;c.682G>C;c.682G>T;c.697G>A;c.709C>T;c.755G>C;c.756T>G;c.835G>A;c.872A>T;c.880C>T;c.881G>A;c.892C>T;c.917A>G;c.998C>T;c.1025C>T;c.1031T>C;c.1058T>C;c.1064G>T;c.1069G>A;c.1070G>A;c.1088G>T;c.1120G>T;c.1135C>T;c.1136G>A;c.1144T>C;c.1150C>T;c.1151G>C;c.1151G>T;c.1180A>G;c.1187G>C;c.1189G>C;c.1217C>T;c.1228G>C;c.1231A>G;c.1232G>T;c.1240C>A;c.1307C>A;c.1307C>T;c.1324G>A;c.1328T>C;c.1357T>C;c.1369A>T |
| FAH | Tirosinemia tipo 1 | Autosómica recesiva | NM_000137.2 | c.1A>G;c.47A>T;c.81+2T>C;c.82-1G>A;c.192G>T;c.192+1G>T;c.193-2A>G;c.314+1G>A;c.315-2A>G;c.401C>A;c.438delT;c.455G>A;c.456-2A>G;c.456G>A;c.492delC;c.520C>T;c.553+2_553+3delTG;c.554-1G>T;c.607-1G>A;c.615delT;c.698A>T;c.706+2T>G;c.707-1G>A;c.709C>T;c.744delG;c.780_781delTC;c.782C>T;c.786G>A;c.835delC;c.837+1G>A;c.939delC;c.960+1G>A;c.961-2A>C;c.963C>A;c.982C>T;c.1009G>A;c.1027G>T;c.1062+5G>A;c.1063-2A>G;c.1069G>T;c.1090G>T;c.1141A>G;c.1181-1G>A;c.1190delA |
| FAM20C | Síndrome de Raine | Autosómica recesiva | NM_020223.3 | c.1093G>C;c.1136G>A;c.1163T>G;c.1225C>T;c.1364-2A>G;c.1446-1G>A |
| FANCA | Anemia de Fanconi grupo de complementación A | Autosómica recesiva | NM_000135.2 | c.4261-2A>C;c.4260+2T>A;c.4260+1G>A;c.4257dupA;c.4130C>G;c.4124_4125delCA;c.4069_4082delGCTGTGGACATGTA;c.4015delC;c.4011-1G>A;c.3971C>T;c.3935-1G>T;c.3934+2T>C;c.3890dupA;c.3884T>A;c.3884T>G;c.3828+1G>A;c.3828+1G>C;c.3813dupA;c.3788_3790delTCT;c.3761_3762delAG;c.3761_3762dupAG;c.3763G>T;c.3745delC;c.3720_3724delAAACA;c.3696delT;c.3634dupT;c.3626+1G>T;c.3624C>T;c.3610_3613delCGGC;c.3592C>T;c.3558dupG;c.3408+1G>C;c.3391A>G;c.3382C>T;c.3349A>G;c.3348+1G>A;c.3188G>A;c.3085G>T;c.3066+1G>T;c.2990_2993delGTTA;c.2982-1G>C;c.2981+1G>A;c.2910delA;c.2870G>A;c.2853-2A>C;c.2852G>A;c.2851C>T;c.2839dupT;c.2840C>G;c.2778+2T>C;c.2763_2769delAGAGGAA;c.2749C>T;c.2730_2731delCT;c.2667delC;c.2630_2631delCA;c.2606A>C;c.2602-2A>T;c.2601+1G>T;c.2557C>T;c.2546delC;c.2535_2536delCT;c.2529C>A;c.2524delT;c.2398G>T;c.2303T>C;c.2222+1G>C;c.2175_2182delTTTCTGTC;c.2172dupG;c.2151+2T>C;c.2151+1G>A;c.2107C>T;c.2082_2088dupCAGCAGC;c.2026C>T;c.2015-1G>A;c.1981A>T;c.1944delG;c.1901-1G>A;c.1901-2A>G;c.1844dupC;c.1827-1G>A;c.1796_1800dupCCCGT;c.1777-1G>C;c.1776+1G>A;c.1771C>T;c.1734_1739delCTACGT;c.1715+1G>T;c.1615delG;c.1606delT;c.1567-1G>T;c.1489C>T;c.1476_1477delCA;c.1470+1G>A;c.1378C>T;c.1359+1G>C;c.1340C>G;c.1304G>A;c.1267C>T;c.1226-2A>G;c.1115_1118delTTGG;c.1074_1075delGT;c.1034_1035delAG;c.1006+1G>T;c.989_995delACAGCCC;c.916_917delAC;c.894-2A>G;c.863_866dupAGTC;c.862G>T;c.856C>T;c.827-1G>C;c.811C>T;c.793-1G>A;c.718C>T;c.710-1G>C;c.709+5G>A;c.709+2T>C;c.709+1G>C;c.643_644delTG;c.597-1G>C;c.596+2T>C;c.549G>A;c.523-1G>T;c.523-2A>G;c.522+1G>T;c.513G>A;c.427A>T;c.416_417delTG;c.401dupC;c.295C>T;c.283+1G>T;c.238delT;c.233_236delTTGA;c.190-1G>T;c.190-2A>T;c.189+1G>A;c.163C>T;c.154C>T;c.131dupA;c.100A>T;c.97delG;c.80-1G>T;c.79+1G>C;c.65G>A;c.11C>A;c.2T>A;c.2T>C;c.1A>C;c.1A>G;c.1A>T |
| FANCC | Anemia de Fanconi grupo de complementación C | Autosómica recesiva | NM_000136.2 | c.1642C>T;c.1628C>A;c.1555dupA;c.1534-1G>T;c.1534-2A>G;c.1533+2T>C;c.1533+1G>C;c.1517G>A;c.1498G>T;c.1487T>G;c.1393C>T;c.1387_1388delTC;c.1333C>T;c.1329+1G>T;c.1309C>T;c.1302dupT;c.1290C>A;c.1182G>A;c.1162G>T;c.1155-1G>A;c.1151_1152delAT;c.1144delC;c.1103_1104delTG;c.1073-1G>C;c.1072+1G>A;c.1069C>T;c.1043_1044delTT;c.1037dupC;c.1015delA;c.996+1G>A;c.996+1G>T;c.946C>T;c.896+2T>G;c.896+1G>C;c.844-1G>C;c.843+1G>A;c.843+1G>C;c.831delA;c.808A>T;c.686+1G>T;c.640dupA;c.595delC;c.595dupC;c.553C>T;c.535C>T;c.521+1G>A;c.520C>T;c.487_490delGAGA;c.489_490delGA;c.457-1G>T;c.456+4A>T;c.455dupA;c.388G>T;c.368C>G;c.356_360delCTCAT;c.355_360delTCTCATinsA;c.346-1G>A;c.339G>A;c.319C>T;c.307C>T;c.251-2A>C;c.251-2A>G;c.165+1G>T;c.117delT;c.108_109dupTC;c.67delG;c.65G>A;c.37C>T;c.29dupG;c.-78-2A>G |
| FANCG | Anemia de Fanconi grupo de complementación G | Autosómica recesiva | NM_004629.1 | c.1852_1853delAA;c.1795_1804delTGGATCCGTC;c.1747G>T;c.1642C>T;c.1480+1G>C;c.1077-2A>G;c.1066C>T;c.925-2A>G;c.907_908dupCT;c.778-1G>A;c.777+1G>A;c.652C>T;c.637_643delTACCGCC;c.510+1G>A;c.313G>T;c.307+1G>C;c.156dupG |
| FH | Déficit de fumarasa | Autosómica recesiva | NM_000143.3 | c.1500G>A;c.1475_1476delTC;c.1469delG;c.1446_1449delAAAG;c.1430_1437dupAAAATGGA;c.1431_1433dupAAA;c.1394A>G;c.1391-1G>A;c.1391-1G>C;c.1391-2A>T;c.1390+2T>C;c.1390+1G>T;c.1370_1371insTCAC;c.1357_1358delCT;c.1349_1352delATGA;c.1349_1352dupATGA;c.1351G>T;c.1347delG;c.1339A>T;c.1302C>A;c.1293delA;c.1263delG;c.1255T>C;c.1250T>G;c.1236+1G>A;c.1236+1G>C;c.1209delT;c.1210G>T;c.1200delT;c.1189G>A;c.1157A>G;c.1139_1142delTGAC;c.1138dupA;c.1126C>T;c.1118A>G;c.1112delA;c.1108+1G>T;c.1097G>A;c.1093A>G;c.1083_1086delTGAA;c.1084G>C;c.1067T>A;c.1063G>T;c.1056dupT;c.1052C>A;c.1052C>G;c.1041delT;c.1027C>T;c.1021G>A;c.1020T>A;c.1007T>G;c.1000A>C;c.952C>T;c.944_945delTG;c.937G>T;c.935T>G;c.934T>C;c.923C>G;c.912_918delTTTTGTC;c.905-1G>A;c.905-1G>C;c.901dupA;c.879delT;c.820G>C;c.808delT;c.805delA;c.797dupT;c.793G>A;c.760C>T;c.757C>T;c.739G>T;c.739-2A>C;c.738+2T>C;c.737delA;c.736C>T;c.731T>G;c.706A>G;c.703C>T;c.698G>A;c.697C>T;c.689A>G;c.679C>T;c.671_672delAG;c.668_669delAA;c.634C>T;c.578_583delCAGCAA;c.584T>C;c.568_569delAC;c.566A>T;c.563delA;c.560C>A;c.560C>G;c.556_557delAG;c.557G>A;c.556-1G>C;c.556-2A>G;c.556-2A>T;c.555+1G>A;c.553_554insTG;c.554A>G;c.539A>G;c.524delT;c.521C>G;c.442C>T;c.439dupA;c.395_399delTAAAT;c.395delT;c.379-1G>A;c.379-2A>G;c.378+2T>C;c.349G>C;c.322C>T;c.320A>C;c.316delG;c.295_301delTTGAAGC;c.302G>C;c.301C>T;c.268-2A>G;c.267+1_267+10delGTAAGTGGCA;c.267+1G>A;c.267+1G>C;c.239dupA;c.204T>A;c.174_177dupTGAA;c.157G>T;c.139C>T;c.134delC;c.133-1G>A;c.40dupC;c.1A>G |
| FKRP | Distrofia muscular-distroglicanopatía tipo 5A, 5B y 5C | Autosómica recesiva | NM_001039885.2 | c.1A>G;c.158_162dupTGCGG;c.160C>T;c.162_165dupGGAG;c.266C>T;c.387_390dupACCT;c.558dupC;c.764G>A;c.823C>T;c.826C>A;c.859_869delTTCGGCTGCAA;c.899T>C;c.919T>A;c.928G>T;c.941C>T;c.947C>G;c.1027G>T;c.1141delG;c.1141dupG;c.1154C>A;c.1170_1171delCG;c.1343C>T;c.1364C>A;c.1387A>G;c.1433T>C;c.1475delC;c.1486T>A |
| FKTN | Distrofia muscular-distroglicanopatía congénita tipo 4A (síndrome de Walker-Warburg); Tipo 4B; Tipo 4C (distrofia muscular de cinturas autosómica recesiva tipo 13 [LGMD R13]) | Autosómica recesiva | NM_001079802.1 | c.-1_2delAAT;c.42delG;c.106-2A>G;c.109G>T;c.139C>T;c.187_188delAT;c.330dupT;c.346C>T;c.369+1G>C;c.369+1G>T;c.370-2A>G;c.411C>A;c.429delA;c.454dupT;c.456_457delAC;c.509C>A;c.527T>C;c.607C>T;c.642dupT;c.658_661delCAGC;c.766C>T;c.770delC;c.780+1G>A;c.911-1G>A;c.919C>T;c.1106delT;c.1112A>G;c.1129_1130delAT;c.1167dupA;c.1172+1G>A;c.1173-2A>G;c.1173-1G>A;c.1173-1G>C;c.1363delG;c.1371_1381dupTATCCAGTTAT;c.1380dupA |
| FMR1 | Síndrome de X-frágil | Ligada al X | - | Expanded allele_full mutation;Expanded allele_premutation |
| FRAS1 | Síndrome de Fraser tipo 1 | Autosómica recesiva | NM_025074.6 | c.370C>T;c.835_838delGTGT;c.1931delG;c.2719C>T;c.2722+1G>A;c.3010+1G>A;c.3370dupT;c.3799C>T;c.4271C>G;c.5125C>T;c.5605_5606insT;c.6433C>T;c.6963_6964dupGG;c.6991_6992insGG;c.7005delT;c.7522+1G>T;c.7551T>A;c.7813C>T;c.8098+2T>A;c.8403_8404delGT;c.8602C>T;c.9013C>T;c.10287delC;c.10948C>T;c.11160_11167delGCTGGAGA |
| G6PC | Enfermedad de almacenamiento de glucógeno tipo 1A | Autosómica recesiva | NM_000151.3;NM_001270397.1 | c.79delC;c.79C>T;c.113A>T;c.150_151delGT;c.189G>A;c.229T>C;c.230+1G>C;c.231-1G>A;c.247C>T;c.248G>A;c.255C>A;c.258G>A;c.328G>A;c.370G>A;c.379_380dupTA;c.381C>A;c.447-1G>A;c.497T>G;c.499dupT;c.508C>T;c.516C>A;c.551G>T;c.474G>A;c.560C>G;c.562G>A;c.562G>C;c.648G>T;c.724C>T;c.809G>T;c.883C>T;c.969C>A;c.1039C>T |
| G6PC3 | Síndrome de Dursun | Autosómica recesiva | NM_138387.3 | c.130C>T;c.141C>G;c.210delC;c.346A>G;c.758G>A;c.778G>C;c.784G>C;c.829C>T;c.935dupT |
| G6PD | Anemia hemolítica por deficiencia de G6PD (favismo) | Ligada al X | NM_000402.4 | c.1478G>A;c.1466G>T;c.1450C>T;c.1429G>A;c.1408C>T;c.1406G>C;c.1319G>A;c.1270G>C;c.1268G>A;c.1249C>T;c.1246A>G;c.1179C>A;c.1178A>T;c.1172C>T;c.1093G>A;c.1054T>C;c.961G>A;c.934G>C;c.896G>A;c.770G>T;c.727G>T;c.683G>C;c.653C>T;c.632A>T;c.583A>G;c.577G>A;c.473T>C;c.233T>C |
| GAA | Enfermedad de almacenamiento de glucógeno tipo 2 | Autosómica recesiva | NR_134848.1;NM_000152.4 | n.*1805T>G;c.-32-1G>C;c.1A>G;c.55delG;c.118C>T;c.169C>T;c.172C>T;c.236_246delCCACACAGTGC;c.241C>T;c.258delC;c.258dupC;c.281_282delCT;c.307T>G;c.343C>T;c.352C>T;c.365delT;c.379_380delTG;c.393delC;c.437delT;c.471delC;c.482_483delCC;c.525_526delTG;c.525delT;c.546+2_546+5delTGGG;c.546G>A;c.546G>C;c.569G>A;c.573C>A;c.655G>A;c.670C>T;c.692+2T>C;c.698delA;c.716delT;c.725C>T;c.736delC;c.768dupT;c.784G>A;c.853C>T;c.854C>G;c.858+2T>A;c.875A>G;c.877G>A;c.896T>C;c.896T>G;c.925G>A;c.934delC;c.989G>A;c.1004G>A;c.1051delG;c.1062C>A;c.1064T>C;c.1075G>T;c.1076-2A>G;c.1076-1G>A;c.1082C>T;c.1099delT;c.1115A>T;c.1124G>T;c.1128_1129delGGinsC;c.1129G>C;c.1134C>G;c.1143delC;c.1153delC;c.1156C>T;c.1165delG;c.1192dupC;c.1193delT;c.1194+2T>C;c.1195-1G>A;c.1222A>G;c.1292_1295dupTGCA;c.1309C>T;c.1316T>A;c.1326+1G>A;c.1326+2T>C;c.1327-2A>G;c.1411_1414delGAGA;c.1431delT;c.1437+1G>A;c.1438-2A>G;c.1438-1G>C;c.1441T>C;c.1447G>A;c.1465G>A;c.1478C>T;c.1496G>A;c.1548G>A;c.1551+1G>C;c.1551+1G>T;c.1552-3C>G;c.1552-2A>G;c.1556T>C;c.1561G>A;c.1564C>A;c.1564C>G;c.1567delT;c.1585_1586delTCinsGT;c.1634C>T;c.1650dupG;c.1655T>C;c.1687C>T;c.1754+1G>A;c.1799G>A;c.1802C>A;c.1802C>G;c.1802C>T;c.1824_1828dupATACG;c.1827delC;c.1827_1828insA;c.1832G>A;c.1843G>A;c.1847dupA;c.1856G>A;c.1912G>T;c.1927G>A;c.1933G>A;c.1933G>C;c.1933G>T;c.1935C>A;c.1941C>G;c.1942G>A;c.1961C>A;c.1979G>A;c.2012T>G;c.2014C>T;c.2015G>A;c.2040+1G>T;c.2041-1G>A;c.2061delC;c.2066_2070dupAGCCG;c.2104C>T;c.2105G>A;c.2105G>T;c.2136_2137delGT;c.2140delC;c.2161dupG;c.2173C>T;c.2185delC;c.2188G>T;c.2189+1G>T;c.2213G>A;c.2214G>A;c.2227C>T;c.2242delG;c.2242dupG;c.2237G>A;c.2237G>C;c.2238G>A;c.2238G>C;c.2242G>T;c.2269C>T;c.2281delGinsAT;c.2300delT;c.2331+2T>A;c.2332-1G>C;c.2367dupA;c.2407C>T;c.2495_2496delCA;c.2501_2502delCA;c.2512C>T;c.2544delC;c.2560C>T;c.2608C>T;c.2646+2T>A;c.2647-1_2648delGAA;c.2662G>T;c.2704_2716dupCAGAAGGTGACTG;c.2704C>T;c.2706delG;c.2815_2816delGT |
| GALC | Enfermedad de Krabbe | Autosómica recesiva | NM_000153.3 | c.2056T>C;c.1987T>G;c.1964delC;c.1912-1G>C;c.1911+1_1911+5delGTAAG;c.1901delT;c.1896_1900delCACGT;c.1901T>C;c.1890T>A;c.1884dupA;c.1851delT;c.1837G>T;c.1835-1G>A;c.1814dupA;c.1796T>G;c.1723_1724insT;c.1712dupC;c.1700A>C;c.1695delT;c.1670+1G>A;c.1665C>G;c.1592G>A;c.1591C>T;c.1586C>T;c.1543G>A;c.1541T>C;c.1488_1489+2delTGGT;c.1489+1_1489+2delGT;c.1488_1489delTG;c.1472delA;c.1468T>A;c.1426dupA;c.1399dupA;c.1338+1G>C;c.1273delG;c.1272_1273insTAG;c.1186C>T;c.1161+2T>G;c.1153G>T;c.1075_1084delAAGACAGTTG;c.1065G>A;c.1031C>G;c.1021delG;c.1012delG;c.972delG;c.955delT;c.953C>G;c.952C>G;c.946C>T;c.908+1G>A;c.908+1G>T;c.908C>T;c.857G>A;c.850G>A;c.827_828delTT;c.749T>C;c.658C>T;c.655C>T;c.628A>T;c.621+1G>A;c.599C>A;c.583-1G>C;c.582+1G>A;c.533G>A;c.521delA;c.489G>A;c.467_468dupGG;c.453G>A;c.442+2T>G;c.433dupA;c.430delA;c.415A>T;c.388G>A;c.387C>G;c.379C>T;c.331G>A;c.328+1G>T;c.243_244dupGA;c.205C>T;c.196G>A;c.195+1G>A;c.195+1G>C;c.195G>C;c.169G>A |
| GALK1 | Deficiencia de galactoquinasa con cataratas | Autosómica recesiva | NM_000154.1 | c.1144C>T;c.944+1G>T;c.612-1G>A;c.410delG;c.238G>T;c.82C>A |
| GALNS | Mucopolisacaridosis tipo 4A | Autosómica recesiva | NM_001323544.1 | c.1577G>A;c.1503C>G;c.1478A>G;c.1435C>T;c.1193C>T;c.1189A>G;c.1174C>T;c.1037G>A;c.953C>G;c.919G>T;c.916+1G>A;c.916+1G>C;c.889G>A;c.889G>T;c.878C>T;c.868T>G;c.794G>A;c.758G>A;c.722C>A;c.707G>A;c.630C>G;c.629A>G;c.560A>G;c.503C>T;c.495G>A;c.481G>A;c.469C>A;c.439T>A;c.433G>A;c.431T>C;c.355A>T;c.349C>T;c.298C>G;c.223T>G;c.196G>A;c.157G>A;c.140T>A;c.139-2A>G |
| GALT | Galactosemia | Autosómica recesiva | NM_000155.3 | c.1A>G;c.18delC;c.25C>T;c.41delCinsTT;c.71_72insA;c.82G>C;c.82G>T;c.83-2A>G;c.90G>C;c.95T>A;c.98G>A;c.113A>C;c.118G>T;c.130G>A;c.130G>T;c.132delG;c.136_140delGCTCA;c.152G>A;c.152G>T;c.158G>A;c.160C>T;c.163G>T;c.180delG;c.197C>A;c.199C>T;c.203A>C;c.207_214delCCCTCTCA;c.220_221delCT;c.220_221insG;c.221T>C;c.238C>T;c.253-2A>G;c.265T>C;c.265T>G;c.285T>G;c.289_291delAAC;c.289A>G;c.290A>G;c.292G>A;c.299C>G;c.307C>T;c.308A>G;c.328+2T>C;c.329-2A>C;c.334dupA;c.337G>A;c.341A>T;c.350T>C;c.354A>C;c.367C>T;c.368G>A;c.374T>C;c.377+1G>T;c.378-2A>T;c.385A>T;c.386T>C;c.392T>G;c.398_399dupCC;c.396C>A;c.400delT;c.404C>G;c.404C>T;c.410dupT;c.413C>T;c.416T>C;c.424A>G;c.425T>A;c.425T>C;c.428C>T;c.442C>G;c.442C>T;c.445dupG;c.443G>A;c.448G>C;c.460T>C;c.460T>G;c.462G>A;c.482T>C;c.490C>T;c.499T>C;c.502_504delGTG;c.502G>A;c.502G>T;c.505C>A;c.507+2T>C;c.508-1G>C;c.509T>A;c.509T>C;c.513delT;c.512T>C;c.524G>A;c.528_529insG;c.536G>A;c.539G>T;c.541T>G;c.542C>T;c.547C>A;c.550C>G;c.552C>A;c.553C>T;c.554C>A;c.556C>A;c.556C>T;c.558C>A;c.562C>T;c.563A>G;c.564+1G>A;c.564+1G>T;c.565_578delGTATGGGCCAGCAG;c.565-2A>G;c.568T>C;c.574A>G;c.575G>A;c.580T>C;c.584T>C;c.594T>G;c.595G>A;c.598delC;c.601C>T;c.602G>A;c.607G>A;c.610C>T;c.611G>C;c.616C>T;c.619C>T;c.626A>C;c.626A>G;c.627T>A;c.634C>T;c.635A>C;c.650T>C;c.652delC;c.658dupG;c.658G>A;c.667C>A;c.670delC;c.677T>C;c.680T>C;c.687G>T;c.687+1G>T;c.687+2T>C;c.688-2A>C;c.691C>T;c.692G>A;c.697G>C;c.719_728delTAGTACTGGT;c.745T>C;c.747G>A;c.748C>A;c.756G>T;c.761dupT;c.770C>T;c.772C>T;c.779_790delATGTGCGGCGGC;c.775C>T;c.776G>A;c.785G>C;c.790delC;c.790_792delCTAinsTAG;c.812A>G;c.814C>G;c.814C>T;c.815G>A;c.820+13A>G;c.821-2A>G;c.824delT;c.833T>A;c.844C>G;c.854A>G;c.855G>T;c.865C>T;c.866T>G;c.871G>A;c.872A>T;c.882delT;c.881T>A;c.888C>G;c.899G>A;c.904+1G>T;c.905-2A>G;c.905-1G>A;c.912dupC;c.920C>A;c.922G>A;c.938G>A;c.939G>A;c.947G>A;c.948G>A;c.949delC;c.950A>G;c.951G>T;c.952delC;c.957C>A;c.959C>T;c.967T>C;c.967T>G;c.968A>G;c.974C>T;c.976delC;c.979delC;c.980T>C;c.982C>T;c.983G>A;c.985T>C;c.986C>T;c.989C>T;c.997C>G;c.997C>T;c.998G>A;c.998G>T;c.1001A>G;c.1006A>T;c.1018G>A;c.1018G>T;c.1024C>A;c.1030C>A;c.1034C>A;c.1047delC;c.1048delA;c.1048A>G;c.1052delC;c.1057C>T;c.1059+1G>T;c.1060-1G>A;c.1098C>A;c.1108C>T;c.1138T>C;c.1140A>C |
| GAMT | Síndrome de deficiencia de creatina cerebral tipo 2 | Autosómica recesiva | NM_138924.2 | c.522G>A;c.506G>A;c.503A>C;c.491dupG;c.491G>A;c.419C>A;c.410A>C;c.328G>T;c.327G>A;c.316C>T;c.299_311dupGGGACTGGGCCCC;c.148A>C;c.133T>A;c.59G>C |
| GBA | Enfermedad de Gaucher | Autosómica recesiva | NM_000157.3 | c.1604G>A;c.1603C>T;c.1549G>A;c.1504C>T;c.1448T>C;c.1448T>G;c.1397T>G;c.1361C>G;c.1348T>A;c.1343A>T;c.1342G>C;c.1319C>T;c.1312G>A;c.1309G>T;c.1307T>C;c.1301G>C;c.1297G>T;c.1295G>T;c.1279G>T;c.1274dupA;c.1246G>A;c.1240G>C;c.1240G>T;c.1228C>G;c.1226A>G;c.1208G>C;c.1192C>T;c.1184C>T;c.1174C>G;c.1171G>C;c.1141T>G;c.1098dupA;c.1090G>A;c.1085C>T;c.1060G>C;c.1053G>T;c.1049A>G;c.1043C>T;c.1029delT;c.983C>T;c.914delC;c.896T>C;c.887G>A;c.886C>T;c.870C>A;c.866G>C;c.764T>A;c.763T>G;c.754T>A;c.751T>C;c.721G>A;c.703T>C;c.701G>A;c.680_681delATinsGG;c.681T>G;c.680A>G;c.667T>C;c.630delC;c.625C>T;c.586A>C;c.580A>T;c.533delC;c.509G>T;c.508C>T;c.487delG;c.481C>T;c.476G>A;c.475C>T;c.431T>G;c.407C>A;c.354G>C;c.259C>T;c.254G>A;c.160G>T;c.115+1G>A;c.93_94insG;c.84dupG;c.73delC |
| GBE1 | Enfermedad de almacenamiento de glucógeno tipo 4 | Autosómica recesiva | NM_000158.3 | c.2052+1G>A;c.1909C>T;c.1883A>G;c.1774G>T;c.1643G>A;c.1634A>G;c.1604A>G;c.1571G>A;c.1570C>T;c.1544G>A;c.1543C>T;c.1468delC;c.1345G>T;c.1239delT;c.1064G>A;c.993-1G>T;c.986A>C;c.986A>G;c.784C>T;c.783-1G>A;c.771T>A;c.760A>G;c.691+2T>C;c.671T>C;c.466_470delCGTAT;c.415G>T;c.288delA;c.143+1G>A |
| GCDH | Acidemia glutárica tipo 1 | Autosómica recesiva | NM_000159.3 | c.74C>A;c.79delG;c.80_81delCG;c.172G>T;c.198delC;c.219delC;c.226C>T;c.262C>T;c.271+1G>A;c.272-2A>C;c.281G>T;c.334G>T;c.339T>G;c.356C>T;c.382C>T;c.383G>A;c.395G>A;c.416C>T;c.431A>C;c.456C>G;c.482G>A;c.514G>T;c.532G>A;c.533G>A;c.541G>C;c.542A>G;c.572T>C;c.636-4_639delCCAGGATC;c.636-3_639delCAGGATC;c.636-1G>A;c.646_649dupTCGC;c.665_668delTTGT;c.675G>A;c.680G>C;c.731delG;c.743C>T;c.751C>T;c.764C>T;c.769C>T;c.770G>A;c.795_796insCTATGATCATC;c.848delT;c.853-2A>G;c.873delC;c.877G>A;c.881G>C;c.883T>C;c.892G>A;c.914C>T;c.937C>T;c.997C>T;c.1002_1003delGA;c.1031C>T;c.1054C>T;c.1060G>A;c.1063C>T;c.1082+1G>T;c.1093G>A;c.1147C>T;c.1156C>G;c.1156C>T;c.1173delG;c.1173dupG;c.1168G>C;c.1169G>C;c.1198G>A;c.1199dupT;c.1204C>T;c.1205G>A;c.1213A>G;c.1239C>A;c.1239C>G;c.1240G>A;c.1244-2A>C;c.1244-2A>G;c.1247C>T;c.1262C>T;c.1317A>G |
| GCH1 | Hiperfenilalaninemia por deficiencia de BH4 tipo B | Autosómica recesiva | NM_000161.2 | c.662T>C;c.631_632delAT;c.633G>A;c.626+1G>A;c.626+1G>T;c.614T>A;c.610delG;c.607G>A;c.602G>A;c.595C>G;c.586G>T;c.551G>A;c.541+1G>C;c.541+1G>T;c.510-1G>A;c.510-1G>C;c.431A>C;c.404T>A;c.401A>T;c.344-1G>A;c.344-1G>C;c.343G>A;c.323G>A;c.262C>T;c.142C>T;c.3G>C;c.1A>T |
| GFM1 | Déficit combinado de la fosforilación oxidativa tipo 1 | Autosómica recesiva | NM_001308164.1 | c.139C>T;c.273delC;c.521A>G;c.688G>A;c.757C>T;c.805C>T;c.1354_1357delGACA;c.1544T>G;c.1589_1590delAG;c.1653delT;c.2068C>T |
| GJB2 | Sordera autosómica recesiva tipo 1A | Autosómica recesiva | NM_004004.5 | c.647_650delGATA;c.645delT;c.632_633delGT;c.617A>G;c.605G>T;c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC;c.598G>A;c.598G>T;c.596C>T;c.575_576delCA;c.564_565delGA;c.551G>A;c.551G>C;c.550C>T;c.535G>A;c.516G>A;c.508_511dupAACG;c.506G>A;c.465T>A;c.456C>A;c.439G>A;c.428G>A;c.427C>T;c.416G>A;c.408C>A;c.402delG;c.400T>C;c.389G>C;c.385G>T;c.379C>T;c.370C>T;c.365A>T;c.358_360delGAG;c.334_335delAA;c.327_328delGGinsA;c.313_326delAAGTTCATCAAGGG;c.310_323delAGGAAGTTCATCAA;c.299_300delAT;c.299A>T;c.298C>T;c.290dupA;c.280_284dupCACGT;c.283G>A;c.279G>A;c.270dupA;c.269dupT;c.269T>C;c.250G>A;c.250G>C;c.250G>T;c.246C>G;c.239A>C;c.238C>T;c.235delC;c.232dupG;c.231G>A;c.230G>A;c.229T>C;c.224G>A;c.223C>G;c.223C>T;c.218A>G;c.196G>C;c.196G>T;c.194A>G;c.193T>C;c.176G>A;c.176G>C;c.175G>A;c.175G>C;c.172C>G;c.172C>T;c.169C>T;c.167delT;c.164C>A;c.162C>A;c.158G>A;c.148G>A;c.148G>T;c.139G>T;c.136G>A;c.134G>A;c.132G>A;c.132G>C;c.131G>A;c.131G>C;c.125_127delAGG;c.119C>A;c.119C>G;c.109G>T;c.101T>G;c.95G>A;c.95G>T;c.94C>A;c.94C>T;c.71G>A;c.66G>T;c.51_62delCACCAGCATTGGinsA;c.59T>C;c.50C>T;c.44A>C;c.35delG;c.35dupG;c.35G>T;c.34G>C;c.34G>T;c.19C>T;c.11delG;c.9G>A;c.1A>G;c.-23+1G>A;c.-23G>T |
| GLA | Enfermedad de Fabry | Ligada al X | NM_000169.2 | c.1246C>T;c.1241T>C;c.1235_1236delCT;c.1229C>T;c.1228A>G;c.1225C>G;c.1225C>T;c.1192G>T;c.1188delC;c.1157A>C;c.1124G>C;c.1118G>A;c.1117G>A;c.1095T>A;c.1088G>A;c.1081G>A;c.1081G>C;c.1077delT;c.1072_1074delGAG;c.1072G>A;c.1069C>T;c.1067G>C;c.1066C>T;c.1057_1058delAT;c.1055_1056delCT;c.1037delG;c.1033_1034delTC;c.1025G>A;c.1024C>G;c.1024C>T;c.1023A>C;c.1021G>T;c.1020G>A;c.1018T>C;c.999+2T>C;c.996_999delACAG;c.983G>C;c.982G>A;c.982G>C;c.980A>G;c.980A>T;c.979C>A;c.979C>T;c.974G>A;c.973G>A;c.966C>A;c.959_962delATCA;c.950T>G;c.916C>T;c.902G>A;c.901C>T;c.899T>C;c.896A>G;c.893A>G;c.890C>T;c.888G>A;c.887T>C;c.886A>G;c.879_880delTTinsAATC;c.865A>T;c.861G>A;c.861G>T;c.847C>T;c.842_844delTAA;c.835C>G;c.830G>A;c.826A>G;c.823delC;c.823C>T;c.815A>G;c.806T>C;c.806T>G;c.802-3_802-2delCA;c.802-2A>G;c.802-2A>T;c.801G>A;c.797A>T;c.791A>T;c.790G>T;c.785G>A;c.784T>C;c.777delA;c.776C>G;c.761T>C;c.748C>T;c.735G>A;c.734G>A;c.730G>A;c.730G>C;c.718_719delAA;c.713G>A;c.707G>A;c.704C>G;c.680G>A;c.680G>C;c.679C>T;c.677G>A;c.670A>G;c.667T>C;c.666C>A;c.662_663delAG;c.661C>T;c.658C>T;c.657C>G;c.647A>G;c.644A>G;c.641C>T;c.640-1G>A;c.640-1G>T;c.640-801G>A;c.638A>G;c.630delC;c.622_623delAT;c.613_621delCCTCTTTAT;c.620A>C;c.620A>G;c.614C>T;c.613C>A;c.610T>C;c.607G>A;c.606T>G;c.605G>A;c.561G>A;c.548G>A;c.548G>T;c.548-1G>A;c.548-2A>G;c.540G>T;c.509A>G;c.485G>A;c.484T>C;c.469C>T;c.466G>A;c.456C>A;c.443G>A;c.439G>A;c.436C>T;c.427G>A;c.427G>C;c.424T>C;c.422C>T;c.394G>A;c.386T>C;c.370-2A>G;c.369+2T>G;c.369+1G>A;c.361_364delGCTA;c.337T>A;c.335G>A;c.335G>T;c.334C>T;c.295dupC;c.290C>T;c.285G>A;c.281G>A;c.274G>A;c.274G>T;c.272T>A;c.272T>C;c.256T>C;c.254G>A;c.244A>T;c.242G>A;c.235G>T;c.195-1G>C;c.195-1G>T;c.166T>G;c.154T>C;c.146G>C;c.137A>G;c.137A>T;c.131G>A;c.127G>A;c.125T>C;c.124A>G;c.119C>G;c.118C>T;c.107T>G;c.104G>A;c.101A>G;c.98A>G;c.95T>C;c.80delC;c.59_72dupCCCTCGTTTCCTGG;c.59C>A;c.58G>C;c.26delA;c.19G>T;c.2T>C |
| GLB1 | Gangliosidosis GM1, tipos 1-3; Mucopolisacaridosis, tipo 4B (Morquio) | Autosómica recesiva | NM_001317040.1 | c.1915T>A;c.1912C>T;c.1890G>A;c.1877A>G;c.1790C>T;c.1778dupA;c.1721dupG;c.1693G>T;c.1671G>T;c.1654_1655insGA;c.1644_1647delTCTC;c.1642A>G;c.1624-2A>G;c.1623+1G>A;c.1600_1610dupGGTGCATATAT;c.1589G>A;c.1514G>A;c.1513C>T;c.1499dupA;c.1487A>T;c.1469G>A;c.1465G>A;c.1457G>A;c.1377+1G>A;c.1332dupG;c.1318_1319delCT;c.1288-2A>G;c.1221delA;c.1212+1G>T;c.1195C>T;c.1148C>T;c.1091A>G;c.1066T>C;c.1045G>A;c.990delC;c.985C>T;c.962G>T;c.952T>G;c.877+1G>A;c.838dupG;c.789_792delGGTT;c.770delA;c.766C>T;c.746G>A;c.745C>T;c.735dupT;c.696+2T>C;c.667C>T;c.625T>G;c.608T>G;c.601+2T>C;c.587G>A;c.586C>A;c.586C>T;c.582_584delTCT;c.569_570delAA;c.541-1G>A;c.540+2T>C;c.511G>A;c.420G>A;c.391T>C;c.389+1G>A;c.389+1G>C;c.389C>T;c.346C>T;c.320G>A;c.319C>T;c.315C>G;c.313delT;c.296T>C;c.289C>T;c.75+1G>C |
| GLDC | Encefalopatía por glicina | Autosómica recesiva | NM_000170.2 | c.2938A>G;c.2919+1G>A;c.2891dupA;c.2839-1G>C;c.2838+2T>C;c.2666-1G>A;c.2665+1G>C;c.2656C>T;c.2614A>T;c.2584G>A;c.2574T>G;c.2527C>T;c.2481_2484delACAA;c.2474G>A;c.2458-1G>T;c.2458-2A>G;c.2423_2426dupGTTC;c.2422delA;c.2414G>A;c.2405C>T;c.2317A>T;c.2316-1G>A;c.2315+2T>A;c.2311G>A;c.2306C>T;c.2293C>T;c.2284G>A;c.2281G>A;c.2281G>C;c.2258A>C;c.2216G>A;c.2213_2214delGT;c.2203-2A>G;c.2186delC;c.2182G>C;c.2177T>A;c.2153_2155delATCinsTCCTGGTTTA;c.2098C>G;c.2081_2088delCTATCATG;c.2080G>C;c.1996C>T;c.1926+1G>A;c.1888C>T;c.1868_1869dupAT;c.1850+1G>T;c.1822_1832delTATGACCAGGT;c.1832T>G;c.1786C>T;c.1742C>G;c.1723G>T;c.1705G>A;c.1691G>T;c.1654A>G;c.1595C>G;c.1580+2T>G;c.1545G>C;c.1444dupG;c.1402-1G>C;c.1401+1G>A;c.1382G>A;c.1342G>T;c.1285_1286insCAAA;c.1270C>T;c.1194C>A;c.1175delC;c.1166C>T;c.1111C>G;c.1108C>T;c.1054delA;c.1009C>T;c.1002dupT;c.985C>A;c.937G>C;c.887T>G;c.861+1G>T;c.847G>C;c.808G>T;c.806C>T;c.793delC;c.706C>T;c.605C>T;c.499G>T;c.482A>G;c.457G>T;c.449A>C;c.335-1G>C;c.334+1G>C;c.334+1G>T;c.322G>T;c.255+1G>A;c.245T>G;c.128delA;c.28delC;c.2T>C |
| GLE1 | Síndrome de contractura congénita letal tipo 1; Artrogriposis congénita con enfermedad de células del asta anterior | Autosómica recesiva | NM_001003722.1 | c.898-2A>G;c.1412_1413delAG;c.2051T>C;c.2069_2072delTTCT |
| GNE | Miopatía con cuerpos de inclusión tipo 2 (miopatía de Nonaka) | Autosómica recesiva | NM_001128227.2 | c.2228T>C;c.2179G>A;c.2008C>T;c.1985C>T;c.1984G>A;c.1937C>G;c.1891G>A;c.1874delT;c.1853T>C;c.1833delC;c.1820G>A;c.1807G>C;c.1779delC;c.1702_1709delTTTGTTAC;c.1664C>T;c.1649A>G;c.1636_1637delGA;c.1578G>A;c.1510delT;c.1399C>T;c.1376delG;c.1355T>C;c.1351C>T;c.1251delA;c.1225G>T;c.1163+2dupT;c.1009C>T;c.1002T>A;c.986T>C;c.949C>T;c.922C>T;c.890G>A;c.889C>T;c.881G>T;c.880C>T;c.830G>A;c.829C>T;c.815T>G;c.748C>T;c.740T>C;c.729dupA;c.710-2A>G;c.709+1delG;c.705G>A;c.694_697dupATTC;c.665C>G;c.620A>T;c.604A>G;c.577C>T;c.563_564delAT;c.528_531delTATC;c.479G>A;c.478C>T;c.268C>T;c.257+1G>A;c.115C>T;c.97G>T |
| GNPTAB | Mucolipidosis tipo 2 alfa/beta; Mucolipidosis tipo 3 alfa/beta | Autosómica recesiva | NM_024312.4 | c.3741_3744delAGAA;c.3663delG;c.3613C>T;c.3603G>A;c.3603-1G>A;c.3569dupA;c.3565C>T;c.3560_3561delAG;c.3523_3529delATGTTCC;c.3503_3504delTC;c.3487_3490delACAG;c.3474_3475delTA;c.3458A>G;c.3449delT;c.3443_3446delTTTG;c.3435-1G>A;c.3434+1G>A;c.3428dupA;c.3410T>A;c.3336-1G>A;c.3336-1G>C;c.3335+6T>G;c.3335+1G>A;c.3330dupA;c.3326dupA;c.3310delG;c.3252delA;c.3250-1_3250delGCinsAT;c.3250-2A>G;c.3249+1G>A;c.3249+1G>C;c.3231_3234dupCTAC;c.3232delT;c.3173C>G;c.3145_3146insC;c.3091C>T;c.3061C>T;c.3053A>G;c.3002T>C;c.2956C>T;c.2918dupT;c.2896delA;c.2867A>G;c.2866C>T;c.2715+2T>G;c.2715+1G>A;c.2693delA;c.2693dupA;c.2681G>A;c.2664C>G;c.2659dupA;c.2617dupA;c.2614delG;c.2591_2592insG;c.2574_2575delGA;c.2550_2554delGAAAA;c.2544delA;c.2533C>T;c.2427delC;c.2422delC;c.2383delG;c.2369_2370delTT;c.2275_2276delAA;c.2249dupA;c.2220_2221dupGA;c.2189delT;c.2188delTinsAAA;c.2089dupC;c.2053_2057delTCAAC;c.1999_2000insT;c.1999G>T;c.1965delC;c.1959_1962delTAGT;c.1906dupA;c.1759C>T;c.1741_1742insTATATATA;c.1625_1626insC;c.1581delC;c.1519C>T;c.1514G>A;c.1408+1G>T;c.1402T>A;c.1399delG;c.1389_1390delGG;c.1385dupA;c.1381T>G;c.1331dupG;c.1325G>A;c.1298G>A;c.1285-2A>G;c.1220A>C;c.1208T>C;c.1206dupT;c.1196C>T;c.1191_1194dupGCTG;c.1123C>T;c.1120T>C;c.1090C>T;c.1036_1037delAT;c.1032delG;c.1017_1020dupTGCA;c.1001G>A;c.1001G>T;c.1000C>T;c.940C>T;c.933+1G>T;c.914dupA;c.857dupA;c.850delA;c.832C>T;c.771+2T>A;c.771+1G>C;c.755_759delCCTCT;c.749dupA;c.732_733delAA;c.648_651delAGAA;c.637-1G>A;c.625_629delAGGGG;c.616_619delACAG;c.517_518insA;c.441delC;c.377T>A;c.366-2A>G;c.344_345delCA;c.310C>T;c.242G>T;c.204-1G>C;c.171delA;c.168T>A;c.163dupT;c.157_160delTTTG;c.136C>T;c.121delG;c.118-2A>G;c.99delC;c.25C>T;c.10A>C |
| GNS | Mucopolisacaridosis tipo 3D (Síndrome Sanfilippo D) | Autosómica recesiva | NM_002076.3 | c.1226dupG;c.1169delA;c.1168C>T;c.1138_1139insGTCCT;c.1063C>T;c.413C>G;c.83delT |
| GPR143 | Albinismo ocular tipo 1 (tipo Nettleship-Falls) | Ligada al X | NM_000273.2 | c.992_993insCG;c.768-1G>A;c.695C>A |
| GRHPR | Hiperoxaluria primaria tipo 2 | Autosómica recesiva | NM_012203.1 | c.45delA;c.84-2A>G;c.103delG;c.102G>A;c.154delG;c.188_189delTG;c.203T>C;c.214+1G>C;c.214+1G>T;c.214+2T>G;c.228dupA;c.248_249delTG;c.288-2_288delAGT;c.295C>T;c.337G>T;c.375delG;c.404+3_404+6delAAGT;c.404delA;c.405-1G>A;c.435_436delGC;c.435G>A;c.441_442delTG;c.454dupA;c.478G>A;c.493+2T>A;c.494G>A;c.515delT;c.540delT;c.597delT;c.598+1G>T;c.599-1G>C;c.608_609delCT;c.622C>T;c.694delC;c.735-1G>A;c.743T>A;c.755dupA;c.864_865delTG;c.904C>T;c.905G>A;c.934A>G;c.965T>C;c.965T>G |
| GUSB | Mucopolisacaridosis tipo 7 | Autosómica recesiva | NM_000181.3 | c.1881G>T;c.1856C>T;c.1831C>T;c.1730G>T;c.1618G>T;c.1586A>G;c.1534G>A;c.1521G>A;c.1484A>G;c.1429C>T;c.1338G>A;c.1337G>A;c.1244+1G>A;c.1219_1220insC;c.1144C>T;c.1084G>A;c.1069C>T;c.1065+1G>T;c.1061C>T;c.1050G>C;c.959A>C;c.866G>A;c.820_821delAC;c.646C>T;c.530C>T;c.526C>T;c.499C>T;c.442C>T;c.398G>C;c.328C>T;c.307C>T |
| HADHA | Deficiencia de 3-hidroxiacil CoA-deshidrogenasa de cadena larga | Autosómica recesiva | NM_000182.4 | c.2225_2228dupAACA;c.2220T>A;c.2146+2T>C;c.2146+1G>A;c.2132dupC;c.2114T>A;c.2071G>T;c.2059delA;c.2000+1G>C;c.1967delT;c.1959dupT;c.1916_1919dupATCA;c.1915_1918delTATC;c.1918C>T;c.1814_1815delAA;c.1811delG;c.1793_1794delAT;c.1690-2A>G;c.1678C>T;c.1668_1674dupTGAAGTC;c.1644delC;c.1620+2_1620+6delTAAGG;c.1590delC;c.1528G>C;c.1479+1G>T;c.1422dupT;c.1344_1345delGT;c.1237A>T;c.1221-1G>C;c.1202delA;c.1195C>T;c.1132C>T;c.1086-3_1092delCAGGCATCTG;c.1052delA;c.1025T>C;c.919-2A>G;c.914T>A;c.871C>T;c.844_845insA;c.845T>A;c.800-1_801delGAA;c.800-1G>T;c.703C>T;c.677-1G>A;c.676+2T>C;c.515delC;c.499delA;c.453+1G>A;c.315-1G>A;c.274_278delTCATC;c.240G>A;c.180_180+5delGGTATCinsAT;c.180+3A>G;c.180+1G>A;c.157C>T;c.72delT |
| HADHB | Deficiencia de proteina trifuncional mitocondrial | Autosómica recesiva | NM_000183.2 | c.182G>A;c.209+1G>A;c.210-1G>T;c.254+1G>A;c.357dupT;c.685C>T;c.740G>A;c.788A>G;c.1059delT;c.1175C>T;c.1211dupG;c.1331G>A;c.1364T>G |
| HAX1 | Neutropenia congénita grave tipo 3 autosómica recesiva | Autosómica recesiva | NM_006118.3 | c.91delG;c.256C>T;c.430dupG;c.568C>T |
| HBA1 | Alfa talasemia | Autosómica recesiva | - | --FIL;--MED;--SEA;--THAI;-(?)20.5;-?3.7;-?4.2 |
| HBA2 | Alfa talasemia | Autosómica recesiva | - | --FIL;--MED;--SEA;--THAI;-(?)20.5;-?3.7;-?4.2 |
| HBB | Hemoglobinopatías asociadas al gen HBB | Autosómica recesiva | NM_000518.4 | c.*110T>C;c.440_441dupAC;c.440A>C;c.440A>T;c.439C>G;c.438T>A;c.437A>G;c.436T>C;c.435G>C;c.431A>C;c.428C>A;c.421G>A;c.383A>C;c.371_378delCCCCACCA;c.364G>A;c.364G>T;c.347C>A;c.343_344delCTinsG;c.344T>C;c.341T>A;c.332T>C;c.328delG;c.328G>A;c.323dupG;c.320T>G;c.316-1G>A;c.316-1G>T;c.316-2A>C;c.316-2A>G;c.316-3C>A;c.316-106C>G;c.316-146T>G;c.316-197C>T;c.315+2T>G;c.315+1G>A;c.315+1G>C;c.312C>G;c.306G>C;c.305A>G;c.304G>A;c.302C>T;c.299A>C;c.299A>G;c.299A>T;c.298G>A;c.298G>C;c.298G>T;c.295G>A;c.293A>T;c.287dupA;c.282_283dupTG;c.283G>C;c.277C>A;c.277C>T;c.275T>C;c.271G>T;c.269G>A;c.268A>C;c.257T>C;c.251delG;c.248A>C;c.248A>T;c.247A>G;c.230delC;c.226delC;c.217_221delAGTGAinsT;c.217dupA;c.216dupT;c.208G>A;c.206T>A;c.203_204delTG;c.201delA;c.199A>G;c.194delG;c.190C>T;c.184A>T;c.182T>A;c.179A>C;c.176C>G;c.162delT;c.143_146dupATCT;c.143dupA;c.135delC;c.134C>G;c.126_129delCTTT;c.130G>T;c.128T>C;c.127T>C;c.127T>G;c.114_120delGACCCAG;c.117_118delCC;c.118C>T;c.114G>A;c.112delT;c.113G>A;c.110delC;c.108C>A;c.103G>T;c.93G>T;c.93-1G>A;c.93-1G>C;c.93-2A>C;c.93-21G>A;c.92+6T>C;c.92+5G>A;c.92+5G>C;c.92+5G>T;c.92+2T>A;c.92+2T>C;c.92+1G>A;c.92+1G>T;c.92G>A;c.92G>C;c.91A>C;c.90C>T;c.85dupC;c.86T>A;c.82G>T;c.79_80insT;c.80A>G;c.79G>A;c.79G>T;c.68_74delAAGTTGG;c.75T>A;c.64dupG;c.59A>G;c.51delC;c.52A>T;c.48G>A;c.46delT;c.47G>A;c.45dupG;c.36delT;c.27dupG;c.25_26delAA;c.20delA;c.20A>T;c.17_18delCT;c.19G>A;c.8A>C;c.4delG;c.4G>T;c.3G>A;c.2T>A;c.2T>C;c.2T>G;c.1A>G;c.-50A>C;c.-75G>C;c.-78A>C;c.-78A>G;c.-79A>G;c.-80T>A;c.-137C>A;c.-137C>G;c.-138C>T;c.-151C>T |
| HEXA | Enfermedad de Tay-Sachs | Autosómica recesiva | NM_001318825.1;NM_000520.5 | c.1570C>T;c.1561C>T;c.1559+2T>C;c.1559+1G>T;c.1543delC;c.1544G>A;c.1543C>T;c.1535C>G;c.1532delT;c.1529G>A;c.1528C>T;c.1487G>A;c.1477G>A;c.1465G>A;c.1455G>C;c.1455-1G>T;c.1454+1G>C;c.1454+1G>T;c.1454G>A;c.1418A>T;c.1393G>A;c.1382delC;c.1363+1G>A;c.1340_1341delTA;c.1338C>T;c.1311_1312insTATC;c.1307_1310dupTATC;c.1293G>C;c.1292G>A;c.1247_1248delAAinsG;c.1211G>C;c.1210C>T;c.1209G>A;c.1201C>T;c.1183C>T;c.1173delA;c.1156delG;c.1154A>C;c.1106+1G>A;c.1106+1G>T;c.1076_1079delTCAA;c.1020G>A;c.1019+3A>G;c.997G>A;c.997G>T;c.980dupA;c.962_963delCT;c.948_950delCTT;c.931_938delTTCATGAG;c.935T>G;c.839-1G>C;c.838+1G>A;c.838+1G>C;c.838G>A;c.838G>C;c.821C>T;c.805G>C;c.782G>A;c.751_752insT;c.742C>T;c.705+1G>A;c.665T>C;c.662C>T;c.604-1G>T;c.603+1G>A;c.584_585delCT;c.573C>G;c.571T>C;c.569A>G;c.566G>A;c.566G>T;c.565C>T;c.557A>C;c.542G>A;c.541C>T;c.498delT;c.493-1G>A;c.493-1G>T;c.492+5G>A;c.469delG;c.459delT;c.442C>T;c.413T>G;c.379+1G>A;c.379+1G>C;c.379+1G>T;c.373G>A;c.349C>T;c.254-1G>C;c.253+1G>A;c.187G>T;c.173G>A;c.155C>A;c.116T>G;c.78G>A;c.77G>A;c.2T>C;c.1A>G;c.1A>T |
| HEXB | Enfermedad de Sandhoff forma infantil, juvenil y adulta | Autosómica recesiva | NM_000521.3 | c.115delG;c.146C>A;c.171delG;c.170G>A;c.202_203insGG;c.298delC;c.299+1G>A;c.300-1G>A;c.333G>A;c.508C>T;c.512-1G>T;c.552T>G;c.796T>G;c.797A>G;c.825delT;c.841C>T;c.850C>T;c.902-1G>T;c.965delT;c.1023_1026delTGAG;c.1082+5G>A;c.1238_1242delCAAAG;c.1243-2A>G;c.1250C>T;c.1305_1306delAG;c.1310_1311delCA;c.1345delT;c.1375G>T;c.1380G>A;c.1389C>G;c.1417G>A;c.1509-26G>A;c.1510C>T;c.1514G>A;c.1517_1529dupCAAGTGCTGTTGG;c.1535_1536delGA;c.1539_1540delCT;c.1559_1562dupGAGA;c.1597C>T;c.1611_1613+2delCGAGT |
| HGD | Alcaptonuria | Autosómica recesiva | NM_000187.3 | c.1336T>C;c.1201G>C;c.1189-2A>G;c.1188+1G>T;c.1111dupC;c.1112A>G;c.1102A>G;c.1064dupG;c.1017_1019delGAGinsTA;c.990G>T;c.970dupG;c.956delC;c.899T>G;c.879+1G>A;c.808G>A;c.781dupT;c.688C>T;c.674G>A;c.652delG;c.649+2T>C;c.481G>A;c.469+2T>C;c.457dupG;c.409delC;c.390delG;c.376_377delAA;c.365C>T;c.360T>G;c.346delC;c.339_342+2delGAGTGT;c.342+1G>A;c.342+1G>T;c.179G>A;c.177-1G>A;c.175delA;c.172A>T;c.158G>A;c.140C>T;c.58delC;c.31_32delGGinsATT;c.16-1G>A;c.15+1G>A;c.11T>A |
| HGSNAT | Mucopolisacaridosis tipo 3C (Síndrome Sanfilippo C) | Autosómica recesiva | NM_152419.2 | c.234+1G>A;c.372-2A>G;c.493+1G>A;c.525dupT;c.607C>T;c.739delA;c.744-2A>G;c.848C>T;c.851+1G>A;c.851+1G>T;c.852-2A>C;c.852-1G>A;c.887C>A;c.947G>A;c.962T>G;c.1030C>T;c.1102A>T;c.1129-2A>T;c.1150C>T;c.1250+1G>A;c.1360C>T;c.1378-1G>A;c.1411G>A;c.1464+1G>A;c.1503delA;c.1516C>T;c.1542+1G>A;c.1542+1G>C;c.1542+2T>G;c.1553C>T;c.1614-2A>T;c.1622C>T;c.1674C>G |
| HLCS | Deficiencia de holocarboxilasa sintetasa | Autosómica recesiva | NM_000411.6 | c.1993C>T;c.1892delT;c.1741G>A;c.1693C>T;c.1680+1G>A;c.1648G>A;c.1624C>T;c.1522C>T;c.1258_1259delCT;c.1180-2A>G;c.1179+1G>A;c.1135C>T;c.782delG;c.655dupA;c.604G>T;c.416T>A;c.271_272delAG;c.250G>T;c.128_144delCGAAGCCTGAACCTTCTinsTTGCTTGAGATTAAGCCTGAGATTAAGG |
| HMGCL | Aciduria 3-hidroxi-3-metil-glutárica | Autosómica recesiva | NM_000191.2 | c.914_915delTT;c.863T>A;c.835G>A;c.804C>A;c.698A>G;c.562-2A>G;c.505_506delTC;c.497+4A>G;c.286C>T;c.230delT;c.206_207delCT;c.122G>A;c.121C>T;c.109G>T;c.60+1G>T;c.31C>T;c.27delG |
| HPS1 | Síndrome de Hermansky-Pudlak tipo 1 | Autosómica recesiva | NM_000195.4 | c.1996G>T;c.1749G>A;c.1744-2A>C;c.1691delA;c.1395G>A;c.1375delA;c.1323dupA;c.1189delC;c.974_975insC;c.972delC;c.972dupC;c.962delG;c.962dupG;c.932delG;c.532dupC;c.418delG;c.398+5G>A;c.398+2T>C;c.397G>T;c.391C>T;c.355delC;c.288delT;c.233_242delACTTCCTGTA |
| HPS3 | Síndrome de Hermansky-Pudlak tipo 3 | Autosómica recesiva | NM_032383.4 | c.1163+1G>A;c.1691+2T>G;c.2482-2A>G;c.2589+1G>C |
| HSD17B4 | Déficit de proteína D bifuncional | Autosómica recesiva | NM_000414.3;NM_001199291.2 | c.46G>A;c.68+2T>A;c.67C>T;c.188-1G>T;c.295+2T>C;c.296-1G>C;c.345delT;c.356-2A>G;c.371dupA;c.392G>C;c.424+1G>T;c.442C>G;c.469C>T;c.510-2A>T;c.601A>G;c.682_685delACAG;c.698-1G>A;c.698-1G>T;c.725A>G;c.784_787delTTTG;c.817C>T;c.947C>G;c.1011_1012delTA;c.1047+1G>T;c.1048-2A>C;c.1285-1G>A;c.1343T>G;c.1375_1378delGATA;c.1409-2A>T;c.1444A>G;c.1444A>T;c.1513-2A>C;c.1513-1G>A;c.1515_1516delAG;c.1579-2A>C;c.1622T>C;c.1649-1G>A;c.1705_1708dupGTGT;c.1771_1777delCCAGTATinsAA;c.1792_1793delCT;c.1823_1824delGA;c.1982delA;c.2011_2015delGTAAA;c.2068+2T>G;c.2069-2A>G;c.2104C>T;c.2196+1G>C |
| HSPG2 | Displasia disegmentaria tipo Silverman-Handmaker | Autosómica recesiva | NM_001291860.1 | c.13078delC;c.10897C>T;c.9329delA;c.8467+4A>G;c.7009+1G>A;c.4598G>A;c.2042_2043delCG;c.1791G>A;c.1656_1657insT;c.1125C>A |
| HYLS1 | Síndrome hidroletalus | Autosómica recesiva | NM_001134793.1 | c.632A>G;c.669G>A;c.724C>T |
| IDS | Mucopolisacaridosis tipo 2 | Ligada al X | NM_000202.7;NM_001166550.3 | c.1591C>T;c.1508T>A;c.1505G>C;c.1463delT;c.1425G>A;c.1403G>A;c.1403G>C;c.1403G>T;c.1402C>T;c.1393C>T;c.1327C>T;c.1265G>A;c.1265G>T;c.1264T>G;c.1181-1G>A;c.1148delC;c.1132_1133delTT;c.1122C>T;c.1106C>A;c.1046G>A;c.1033T>A;c.1025A>C;c.1016T>C;c.1006+1G>T;c.1003C>T;c.998C>T;c.935G>A;c.908_909delCT;c.884A>T;c.880-8A>G;c.832_833insATGTTTAAGGGAAG;c.820G>T;c.806A>T;c.754_767delGATCCCGAGGTCCC;c.708+1G>A;c.702C>A;c.690_691insT;c.688A>T;c.683C>A;c.683C>T;c.613G>C;c.596_599delAACA;c.597delA;c.592G>A;c.587T>C;c.514C>T;c.509_510delCA;c.508-1G>A;c.508-1G>C;c.476_478delATC;c.479C>A;c.479C>G;c.469C>T;c.463_464delTTinsCCGTATAGCTGG;c.425C>A;c.419-1G>A;c.411delT;c.404A>G;c.401G>A;c.388_389insG;c.359C>A;c.349_351delTCC;c.314_317dupTCAA;c.309C>G;c.15-2A>G;c.278delC;c.262C>T;c.253G>A;c.252C>A;c.240+1G>A;c.208dupC;c.196C>T;c.181T>C;c.133G>C;c.103+1G>C |
| IDUA | Mucipolisacaridosis tipo 1h; Mucipolisacaridosis tipo 1h/s; Mucipolisacaridosis tipo s | Autosómica recesiva | NM_000203.4 | c.46_57delTCGCTCCTGGCC;c.53T>C;c.152G>A;c.158+1G>A;c.159-1G>A;c.164delC;c.191_192delAC;c.192C>A;c.208C>T;c.266G>A;c.299+1G>T;c.300-1G>A;c.385+1G>C;c.386-2A>G;c.488dupA;c.493+1G>A;c.494-1G>A;c.494-1G>C;c.501C>G;c.523T>C;c.542dupA;c.589+1G>A;c.606C>A;c.612_615dupCTGC;c.613_617dupTGCTC;c.653T>C;c.713T>A;c.793-1G>A;c.820G>T;c.876delC;c.928C>T;c.972+1G>A;c.979G>C;c.1029C>A;c.1029C>G;c.1037T>G;c.1045G>A;c.1091C>T;c.1096A>C;c.1163C>A;c.1163C>G;c.1190-2A>T;c.1205G>A;c.1206G>A;c.1210G>T;c.1402+1G>A;c.1402+1G>C;c.1402+2T>G;c.1469T>C;c.1487C>G;c.1524+1G>T;c.1591delC;c.1598C>G;c.1602delG;c.1614delG;c.1650+5G>A;c.1728-2A>G;c.1728-1G>C;c.1743C>G;c.1799delC;c.1828+1G>C;c.1829-2A>G;c.1829-1G>A;c.1854C>A;c.1855C>T;c.1861C>T;c.1874A>G;c.1882C>T;c.1893delC |
| IGHMBP2 | Enfermedad de Charcot-Marie-Tooth axonal tipo 2S | Autosómica recesiva | NM_002180.2 | c.2T>C;c.92G>A;c.121C>T;c.127C>T;c.138T>A;c.257-2A>G;c.292_303delGGCAGTCAGCTGinsATGCT;c.439C>T;c.449+1G>A;c.449+1G>T;c.547+1G>A;c.638A>G;c.661delA;c.675delT;c.707T>G;c.826C>T;c.904C>T;c.958C>T;c.983_987delAAGAA;c.1060+2T>C;c.1082T>C;c.1107C>G;c.1118T>G;c.1193C>A;c.1346delT;c.1418+1G>C;c.1478C>T;c.1488C>A;c.1516G>T;c.1540G>A;c.1582G>A;c.1633-2A>G;c.1708C>T;c.1738G>A;c.1813C>T;c.2197_2203delATAGTGGinsCA;c.2362C>T;c.2368C>T;c.2560C>T;c.2575C>T;c.2598_2599delGA;c.2611+1G>T;c.2784+1G>T;c.2911_2912delAG |
| IL2RG | Inmunodeficiencia combinada grave ligada al X | Ligada al X | NM_000206.2 | c.982C>T;c.924+1G>A;c.923C>A;c.878T>A;c.865C>T;c.855-1G>A;c.854G>A;c.846G>A;c.758-1G>A;c.718T>C;c.703_711dupCAGCATTGG;c.710G>A;c.703C>T;c.677G>A;c.676C>T;c.664C>T;c.602C>G;c.562C>T;c.522G>A;c.467C>T;c.458T>A;c.455T>C;c.454+1G>A;c.452T>C;c.421C>T;c.391C>T;c.355A>T;c.343T>C;c.341G>A;c.328delG;c.314A>G;c.281C>A;c.270G>A;c.270-1G>T;c.270-15A>G;c.202G>A;c.186T>A;c.2T>C |
| IVD | Acidemia isovalérica | Autosómica recesiva | NM_002225.3 | c.2T>G;c.111_112delCG;c.134T>C;c.153+1G>A;c.157C>T;c.158G>A;c.158G>C;c.166_169dupATGG;c.241C>T;c.243+1G>A;c.296-1G>A;c.358C>T;c.367G>A;c.390delT;c.406_407delTG;c.434_437dupATGA;c.465+2T>C;c.466-3_466-2delCAinsGG;c.466-2A>G;c.478_479insGT;c.507delG;c.559+1G>A;c.560-1G>A;c.593G>A;c.605G>T;c.627delT;c.720dupT;c.753dupT;c.793+1G>A;c.794-1G>A;c.879dupG;c.887+1G>A;c.899C>T;c.941C>T;c.970-2A>G;c.970-1G>T;c.994_995delAT;c.1117C>T;c.1141T>C;c.1145_1147+4delTTGGTGA;c.1183C>T;c.1188delT;c.1192C>T;c.1193G>A;c.1208A>G;c.1214T>C |
| KCNJ11 | Hipoglucemia hiperinsulinémica tipo 2 (hiperinsulinismo congénito); Diabetes mellitus neonatal permanente | Autosómica recesiva; Autosómica recesiva* | NM_000525.3 | c.1001G>A;c.997T>A;c.989A>G;c.964G>A;c.902G>A;c.886A>C;c.881C>T;c.868G>A;c.866G>T;c.844G>A;c.776A>G;c.761C>T;c.755T>C;c.685G>A;c.679G>A;c.602G>A;c.602G>T;c.601C>T;c.544A>G;c.536A>C;c.521C>G;c.510G>C;c.509A>G;c.499A>C;c.497G>A;c.497G>T;c.175G>A;c.158G>A;c.157G>A;c.157G>C;c.154C>T;c.149G>A;c.36C>A;c.-134G>T |
| L1CAM | Síndrome L1 | Ligada al X | NM_000425.4 | c.3581C>T;c.3489_3490delTG;c.3458-1G>C;c.3201T>G;c.3071C>G;c.3046+1G>C;c.2974C>T;c.2879delA;c.2547+1G>A;c.2544C>A;c.2438dupA;c.2433C>A;c.2421_2422delTG;c.2380C>T;c.2351A>G;c.2278C>T;c.2254G>A;c.2205G>A;c.2137+1G>A;c.2092G>A;c.2014C>T;c.1983delA;c.1939+1G>A;c.1939A>T;c.1792G>A;c.1780delA;c.1767C>A;c.1704-1G>A;c.1672C>T;c.1485C>G;c.1453C>T;c.1417C>T;c.1408C>T;c.1379G>A;c.1354G>A;c.1267+1G>A;c.1267C>T;c.1146C>G;c.1108G>A;c.998C>G;c.992-2A>G;c.924C>T;c.807-6G>A;c.806+1G>C;c.800dupA;c.791G>A;c.772C>T;c.719C>T;c.551G>A;c.536T>G;c.266C>A;c.177delC;c.26G>A;c.23delT |
| LAMA2 | Distrofia muscular asociada al gen LAMA2 | Autosómica recesiva | NM_000426.3 | c.2T>C;c.112+1G>A;c.184G>T;c.283C>T;c.283+1G>A;c.329G>A;c.363C>A;c.391C>T;c.396+1G>T;c.444dupG;c.498G>A;c.524_534dupAGTGCCTAACG;c.640-1G>A;c.817A>T;c.819+1G>A;c.819+2T>C;c.825delC;c.828C>G;c.939_940delAT;c.1027+1G>A;c.1027+1G>T;c.1028-1G>A;c.1032_1042delCAATTGTCATG;c.1050delT;c.1122delA;c.1303C>T;c.1306+2T>G;c.1307-1G>A;c.1467+1G>A;c.1467+1G>T;c.1467+2T>C;c.1610_1611delTA;c.1612C>T;c.1657C>T;c.1762delG;c.1854_1861dupACGTGTTC;c.1855_1856insATGTTCAC;c.2049_2050delAG;c.2096+1G>A;c.2098_2099delTT;c.2230C>T;c.2322+1G>C;c.2323-2A>T;c.2323-1G>A;c.2350dupT;c.2352T>G;c.2451-2A>G;c.2556delT;c.2749+1G>A;c.2749+1G>C;c.2750-1G>C;c.2836C>T;c.2901C>A;c.2962C>T;c.3085C>T;c.3215delG;c.3237C>A;c.3283C>T;c.3294delG;c.3555+1G>A;c.3630delT;c.3636delT;c.3718C>T;c.3736-2A>G;c.3736-2A>T;c.3829C>T;c.3924+2T>C;c.3976C>T;c.3979_3985dupGAAGACT;c.4048C>T;c.4176+1G>A;c.4198C>T;c.4348C>T;c.4436+1G>C;c.4523+1G>A;c.4524-2A>T;c.4645C>T;c.4692_4695dupTGCA;c.4717+1G>C;c.4717+1G>T;c.4860+2delTinsGGCC;c.4876C>T;c.4960-2A>G;c.5050G>T;c.5116C>T;c.5156_5159delAAGA;c.5227G>T;c.5234+1G>A;c.5259delA;c.5260delG;c.5325dupA;c.5374G>T;c.5476C>T;c.5562+1G>A;c.5562+5G>C;c.5563-2A>G;c.5605G>T;c.5706_5712delCTCATCT;c.5865+2T>G;c.5866-2A>G;c.5866-1G>A;c.5914C>T;c.6011delA;c.6038delT;c.6268+2T>C;c.6334A>T;c.6429+1G>A;c.6429+1G>C;c.6429+1G>T;c.6488delA;c.6520delG;c.6573+1G>A;c.6573+1G>T;c.6617delT;c.6919_6920delTA;c.6955C>T;c.6985_6988delACTG;c.6992+5G>A;c.6993-2A>C;c.7074C>A;c.7147C>T;c.7155+1G>A;c.7279_7280delCT;c.7439+1G>A;c.7444A>T;c.7452-1G>A;c.7490_7493dupAAGA;c.7536delC;c.7572+1G>A;c.7658delC;c.7691T>C;c.7732C>T;c.7810C>T;c.7888C>T;c.7899-1G>A;c.7991delG;c.8076-1G>A;c.8155G>T;c.8169_8173delTCCAG;c.8244+1G>A;c.8245-2A>G;c.8314delA;c.8547+1G>T;c.8547+2T>C;c.8548-2A>G;c.8669dupT;c.8705delT;c.8748delA;c.8858-1G>A;c.9095dupA;c.9101_9104dupAACA;c.9211+1G>A;c.9212-2A>G;c.9212-1G>A;c.9221delA;c.9253C>T |
| LAMA3 | Epidermólisis ampollosa juntural (EAJ) tipo Herlitz; EAJ tipo no-Herlitz | Autosómica recesiva | NM_198129.2;NM_000227.4 | c.4683+2T>G;c.42G>A;c.91C>T;c.108delA;c.151dupG;c.5016C>A;c.5049delG;c.5099C>G;c.5112+1G>A;c.5112+1G>T;c.5112+2T>G;c.5113-2A>G;c.5152delT;c.5162delG;c.5197dupG;c.5205delA;c.5461+1G>A;c.5594_5597delCCCA;c.5688dupT;c.5782C>T;c.5836+2T>C;c.5980_5981delGC;c.6009delG;c.6041delA;c.6232_6233delAG;c.6266C>G;c.6318+2T>C;c.6377_6380delTAAG;c.6472G>T;c.6505delG;c.6567delC;c.6708_6711delGCTAinsCCT;c.6719-2A>G;c.6808C>T;c.6836-2A>G;c.6943A>T;c.7054A>T;c.7075C>T;c.7158+1G>A;c.7165delG;c.7343_7346delACAT;c.7459A>T;c.7489C>T;c.7654C>T;c.7677delA;c.7820delG;c.7828C>T;c.8004_8005delAG;c.8043+2T>C;c.8044-1G>T;c.8102delA;c.8177+2T>G;c.8203C>T;c.8292G>A;c.8295+2T>C;c.8436G>A;c.8436+1G>A;c.8576+1G>A;c.8576+2T>G;c.8626_8627insC;c.8708+1G>A;c.8708+1G>T;c.8708+2T>G;c.8786T>G;c.8941C>T;c.8962C>T;c.8971dupG;c.9162dupA;c.9352-1G>C;c.9400delG;c.9511+1G>A;c.9512-1G>T;c.9575delC;c.9705dupT;c.9736+1G>C |
| LAMB3 | Epidermólisis ampollosa juntural (EAJ) tipo Herlitz; EAJ tipo no-Herlitz | Autosómica recesiva | NM_000228.2 | c.3446_3453delGACTGGAG;c.3431C>A;c.3394dupG;c.3383-1G>A;c.3340G>T;c.3250_3251delAA;c.3228+1G>A;c.3228+1G>T;c.3119G>A;c.3052-1G>A;c.3034C>T;c.3024delT;c.2914C>T;c.2842delG;c.2806C>T;c.2701+1G>A;c.2556+1G>A;c.2362_2372delTGTGGCAACTC;c.2346delC;c.2288delG;c.2170C>T;c.2011delC;c.1978C>T;c.1977-1G>A;c.1903C>T;c.1830G>A;c.1823dupG;c.1705C>T;c.1597+1G>T;c.1587_1588delAG;c.1486-1G>A;c.1439_1443delCGTGT;c.1438_1442delCCGTG;c.1365_1366delCA;c.1357delT;c.1288+1G>A;c.1288+1G>T;c.1117C>T;c.1065_1066delTG;c.1029_1030dupTG;c.1029T>A;c.1017T>G;c.1007delA;c.978delC;c.977delA;c.943+2T>A;c.920delG;c.904delT;c.870T>A;c.823-1G>T;c.727C>T;c.629-1G>A;c.628+1delG;c.628+1G>A;c.628G>A;c.565-1G>T;c.565-2A>C;c.565-2A>G;c.561delG;c.505C>T;c.499_500delAG;c.496C>T;c.463dupT;c.430C>T;c.373-2A>G;c.372+2T>G;c.372+1G>C;c.298+2T>C;c.241C>T;c.225_226delCA;c.183+2T>C;c.124C>T;c.69_70delTG;c.29-2A>G |
| LAMC2 | Epidermólisis ampollosa juntural (EAJ) tipo Herlitz; EAJ tipo no-Herlitz | Autosómica recesiva | NM_005562.2 | c.80-2A>G;c.134_137delGACA;c.146_150dupATGGA;c.268+1G>A;c.283C>T;c.343C>T;c.405-1G>A;c.503+1G>C;c.504-2A>C;c.537delG;c.559_560insAA;c.640+2T>A;c.641-2A>G;c.667C>T;c.709C>T;c.733C>T;c.877_878delGG;c.953+1G>A;c.954-2A>T;c.1065C>G;c.1257delA;c.1468+1G>T;c.1659C>A;c.1714+2T>C;c.1715-1G>A;c.1715-1G>C;c.1782_1783delGC;c.1858-1G>A;c.1970_1971delAG;c.2006_2012delTTTCAGA;c.2014+1G>A;c.2137_2143delCAGAACC;c.2220+2T>G;c.2348delA;c.2389_2392delCTGC;c.2456+1G>C;c.2541_2542delCA;c.2590C>T;c.2602-1G>C;c.2755-2A>G;c.2929_2930delTC;c.3069+1G>A;c.3069+1G>C;c.3120_3121insA;c.3147dupG;c.3223_3224delCA;c.3329-2A>G;c.3357delG;c.3512dupA |
| LARGE1 | Distrofia muscular-distroglicanopatía tipo 6A y tipo 6B | Autosómica recesiva | NM_004737.4 | c.1525G>A;c.1483T>C;c.1102C>T;c.992C>T |
| LHX3 | Déficit combinado de hormonas hipofisarias tipo 3 | Autosómica recesiva | NM_014564.4 | c.687G>A;c.644C>T;c.347A>G;c.302_303delGCinsTCCT;c.148A>T;c.111delT |
| LIFR | Síndrome de Stuve-Wiedemann (Síndrome de Schwartz-Jampel tipo 2) | Autosómica recesiva | NM_001127671.1 | c.2503G>T;c.2170C>G;c.2074C>T;c.2013dupT;c.1789C>T;c.1273_1276delGTTA;c.1121+1G>A;c.1018_1022delAATTG;c.653dupT;c.503C>G;c.254delA;c.171_174delTAAC |
| LIPA | Deficiencia de lipasa acida lisosomal (Wolman) | Autosómica recesiva | NM_000235.3 | c.894+2T>C;c.894G>A;c.894G>C;c.892C>T;c.822+1G>A;c.822+1G>C;c.796G>T;c.684delT;c.676-2A>G;c.656T>G;c.599T>C;c.594dupT;c.482delA;c.428+1G>A;c.419G>A;c.397_398delTC;c.398delC;c.350_351insCC;c.260G>T;c.253C>T;c.193C>T;c.129C>G;c.111+2T>G |
| LOXHD1 | Sordera autosómica recesiva tipo 77 | Autosómica recesiva | NM_144612.6 | c.5944C>T;c.5894dupG;c.4989G>A;c.4741-1G>A;c.4714C>T;c.4524_4525delAG;c.4480C>T;c.4376-2A>G;c.4099G>T;c.4096-1G>C;c.3924C>A;c.3169C>T;c.3148G>T;c.3061+1G>A;c.3061+1G>T;c.2870C>A;c.2696G>C;c.2598+1G>C;c.2497C>T;c.2303delG;c.2244+2T>G;c.2008C>T;c.894T>G;c.746G>A;c.512-1G>A;c.457_461dupCGCCA;c.442A>T |
| LRPPRC | Síndrome de Leigh tipo franco-canadiense | Autosómica recesiva | NM_133259.3 | c.4128+2T>G;c.4128+1G>A;c.3963C>A;c.3952G>T;c.3900+1G>C;c.3830_3839delGTGGTGCAATinsAG;c.3673_3676delGTAA;c.3286delC;c.3147dupA;c.3045G>A;c.3003_3006delAGAG;c.2984T>G;c.2755C>T;c.2737-1G>T;c.2736+1G>T;c.2545_2558delTATGAAAAGTATAA;c.2505-1G>T;c.2450T>A;c.2296+1G>A;c.2080-1G>C;c.1970_1971delTG;c.1920+1G>T;c.1865_1868delTCTA;c.1842+2T>A;c.1792C>T;c.1723C>T;c.1649_1649+1delGGinsTTT;c.1589C>A;c.1577C>A;c.1261+2T>C;c.1091C>G;c.1061C>T;c.864+2T>C;c.650+1G>C;c.601C>T;c.600C>A;c.589C>T;c.469+1G>A;c.251_254delATTG;c.254G>A |
| LYST | Síndrome de Chediak-Higashi | Autosómica recesiva | NM_000081.3 | c.10395delA;c.10345C>T;c.10127A>G;c.9893delT;c.9590delA;c.9228_9229insTTCTTTCAGT;c.8802-2A>G;c.8583G>A;c.8281A>T;c.7982C>G;c.7555delT;c.7159C>T;c.7060_7066delCTATTAG;c.6694G>T;c.6078C>A;c.5956C>T;c.5541_5542delAA;c.5506C>T;c.5317delA;c.5061T>A;c.4688+1G>A;c.4274delT;c.4052C>G;c.3944dupC;c.3622C>T;c.3434dupA;c.3310C>T;c.3085C>T;c.3073_3074delAA;c.2623delT;c.2454delA;c.2413delG;c.2413G>T;c.1902dupA;c.1540C>T;c.1467delG;c.925C>T;c.772T>C;c.148C>T;c.118dupG |
| MAN2B1 | Alfa-manosidosis tipo 1 y 2 | Autosómica recesiva | NM_000528.3 | c.2921_2922delCA;c.2922delA;c.2820+1G>A;c.2802dupC;c.2696C>A;c.2686_2687delCTinsG;c.2669C>G;c.2665-1G>C;c.2664+1G>A;c.2436+2T>C;c.2436+1G>A;c.2426T>C;c.2402dupG;c.2398G>A;c.2368C>T;c.2356-2A>G;c.2299C>T;c.2278C>T;c.2268-1G>C;c.2248C>T;c.2165+1G>A;c.2119C>T;c.2114delC;c.2047-1G>A;c.2046+2T>A;c.2046+1G>A;c.2046+1G>T;c.2013delT;c.1929G>A;c.1929-1G>T;c.1915C>T;c.1851delT;c.1831-2A>G;c.1830+1G>C;c.1774_1783delGCACCACAGC;c.1780C>T;c.1687G>T;c.1645-1G>A;c.1645-2A>T;c.1528-1G>T;c.1527+1G>C;c.1468_1472delTTCAC;c.1390C>T;c.1383C>A;c.1383C>G;c.1310-1G>A;c.1309+1G>T;c.1163G>A;c.1109G>A;c.1026+2T>C;c.764-1G>C;c.446delA;c.422delA;c.418C>T;c.384G>A;c.277C>T;c.231G>A;c.159+2T>C;c.159+1G>A;c.1A>G |
| MCCC2 | Déficit de 3-metilcrotonil-CoA carboxilasa tipo 2 | Autosómica recesiva | NM_022132.4 | c.142C>T;c.214C>T;c.295G>C;c.302C>A;c.380C>G;c.449_450delTG;c.463C>T;c.464G>A;c.499T>C;c.517dupT;c.538C>T;c.569A>G;c.641delG;c.652G>A;c.735dupC;c.838G>T;c.929C>G;c.994C>T;c.1015G>A;c.1065A>T;c.1072+1G>A;c.1081C>T;c.1216+2T>C;c.1574+1G>A;c.1577dupT;c.1580G>A |
| MCOLN1 | Mucopolidosis tipo 4 | Autosómica recesiva | NM_020533.2 | c.31+1G>A;c.32-2A>G;c.38_41dupAGCG;c.54dupC;c.235C>T;c.302_303delTC;c.304C>T;c.378C>G;c.405+1G>A;c.406-2A>G;c.473_474delCC;c.514C>T;c.571+2T>C;c.615dupC;c.681-2A>G;c.777+1G>C;c.855_856insA;c.964C>T;c.984+1G>A;c.1047dupA;c.1084G>T;c.1134+2T>C;c.1135-2A>G;c.1135-1G>A;c.1135-1G>C;c.1207C>T;c.1210dupT;c.1340T>C;c.1388G>A;c.1395C>G;c.1406A>G;c.1453_1463dupGGCCGCAGCAG;c.1447C>T;c.1615delG |
| MECP2 | Encefalopatía neonatal grave | Ligada al X | NM_001110792.1;NM_004992.3 | c.1491_1492dupTA;c.1486_1489delAGAG;c.1451_1452delAG;c.1444_1447delAACAinsTG;c.1400_1401insC;c.1399G>T;c.1393C>T;c.1366_1378delGCCACGGCCGCAG;c.1356dupT;c.1344_1345delTC;c.1252C>T;c.1238dupG;c.1233dupC;c.1230_1231insT;c.1226dupA;c.1225G>T;c.1194_1203delGCCCCCACCT;c.1196_1202delCCCCACC;c.1200delA;c.1198_1199delCC;c.1199dupC;c.1195_1196delCCinsT;c.1192_1193dupCT;c.1188_1191delACCC;c.1171_1178delCCCGTGCC;c.1163_1173delCAAAGGCCCCC;c.1173dupC;c.1154C>G;c.1122delC;c.1123A>T;c.1115C>A;c.1065delG;c.1030_1034delAGCGG;c.1025_1030delAGAAGAinsGCATCTTCTCCTCTTT;c.1001C>T;c.1000C>T;c.953G>A;c.952C>T;c.951G>T;c.946A>C;c.942delC;c.934_940delGTACTCC;c.941C>G;c.934_937delGTAC;c.934delG;c.925C>T;c.916_920delCGATC;c.919delT;c.905_916delAGTCTTCTATCCinsCACA;c.916C>T;c.910_911insA;c.905dupA;c.901_902delAA;c.900dupG;c.901A>T;c.892_895delAAAG;c.891_895delGAAAGinsAAAAAAAAGACT;c.890dupA;c.866delC;c.855delG;c.848_854delAGCCGGG;c.846_849delAAAG;c.844delC;c.844C>T;c.842delG;c.835A>T;c.828_829delTC;c.820C>T;c.802_815dupAAAGCTGAGGCCGA;c.802A>T;c.792_799dupCAGGAAGC;c.799C>T;c.792_795delCAGG;c.796A>T;c.791delG;c.791dupG;c.788_789dupCC;c.789delC;c.789dupC;c.784_789delCGCCCCinsGGCCG;c.786delCinsTCAGGAAGCTT;c.784_785insT;c.784dupC;c.772_779delATGGTGATinsGTG;c.775delG;c.766C>T;c.751delG;c.746delG;c.746dupG;c.732delC;c.731delG;c.731dupG;c.714delT;c.713_714insA;c.710C>G;c.710C>T;c.690_693delGAAG;c.687_688delTG;c.658C>T;c.656dupT;c.653delG;c.649G>T;c.647_648delCAinsAG;c.647C>G;c.644_645insA;c.637dupG;c.634A>T;c.628A>T;c.610A>T;c.605G>A;c.603dupA;c.602delG;c.602dupG;c.592A>T;c.590delG;c.579_580delTC;c.574A>T;c.567delA;c.565A>T;c.559A>T;c.544C>T;c.538C>T;c.535C>T;c.531delC;c.524_525delGG;c.519delG;c.520A>G;c.516_517delTG;c.516delT;c.511delG;c.509C>T;c.508A>G;c.504C>A;c.504C>G;c.500T>C;c.490C>G;c.487delG;c.488A>G;c.475delG;c.467delA;c.466A>T;c.458dupA;c.459C>G;c.456delG;c.455C>T;c.449T>A;c.447delG;c.446A>G;c.439A>G;c.437C>G;c.437C>T;c.434G>A;c.414-3_419delCAGTCCCCA;c.418C>T;c.416C>T;c.414-2A>C;c.414-2A>G;c.414-2A>T;c.413+1G>A;c.413+1G>T;c.411delC;c.412A>G;c.400G>A;c.381delC;c.368G>A;c.362dupA;c.361A>G;c.347_359delGGACACGGAAGCT;c.354_357dupGAAG;c.353G>A;c.351dupA;c.352C>T;c.347G>A;c.338C>A;c.338C>G;c.338C>T;c.337C>T;c.334C>G;c.311delG;c.311dupG;c.310G>T;c.294_295delCA;c.279dupC;c.265_274delGCTTCTGCCT;c.269delC;c.251_252insT;c.251dupC;c.239C>G;c.237delG;c.230C>G;c.225_226delGA;c.203_204delCC;c.182C>A;c.182C>G;c.176dupA;c.162dupG;c.155_156delAG;c.153dupA;c.143_149delAAGAAGA;c.144_147delAGAA;c.143_144delAA;c.136_139delGATA;c.127delG;c.112delC;c.100A>T;c.83_93delAGGACCTCCAG;c.92dupA;c.91C>T;c.86dupA;c.82C>T;c.71_78dupAGTCAGAA;c.64G>T;c.63-2A>G;c.26+2T>A;c.62+2T>G;c.62+1G>A;c.59_60delGA;c.47_57delGCGAGGAGGAG;c.48_55delCGAGGAGG;c.48_55dupCGAGGAGG;c.30delCinsGA;c.23_27dupCGCCG;c.1A>G;c.1A>T |
| MEFV | Fiebre mediterránea familiar | Autosómica recesiva | NM_000243.2 | c.2282G>A;c.2230G>T;c.2177T>C;c.2081_2083delTGA;c.2084A>G;c.2082G>A;c.2080A>G;c.2076_2078delAAT;c.2064C>G;c.2060G>A;c.2040G>A;c.2040G>C;c.1958G>A;c.1894G>A;c.1759+1G>A;c.1437C>G;c.1141C>T;c.826G>T;c.656dupG;c.501G>C;c.277+1G>T;c.163dupA |
| MFSD8 | Lipofuscinosis neuronal ceroidea tipo 7 | Autosómica recesiva | NM_152778.2 | c.1525_1526delCT;c.1444C>T;c.1361T>C;c.1351-2A>G;c.1286G>A;c.1235C>T;c.1141G>T;c.1090delA;c.1061dupT;c.999-2A>G;c.998+1G>A;c.929G>A;c.894T>G;c.881C>A;c.863+1G>A;c.754+2T>A;c.754+1G>T;c.599G>A;c.554-2A>T;c.553+1G>A;c.525T>A;c.440-2A>T;c.416G>A;c.362A>G;c.217dupA;c.64G>T |
| MKS1 | Síndrome de Bardet-Bield tipo 13; Meckel syndrome tipo 1 | Autosómica recesiva | NM_001321269.1;NM_001321268.1 | c.1506-2A>T;c.1505+1G>T;c.1445dupC;c.1408-2A>G;c.841_844dupGGCA;c.799-2A>G;c.1407+2delT;c.1394delC;c.1166-2A>C;c.1166-2A>G;c.1115_1117delCCT;c.1112_1114delTCT;c.1066C>T;c.1048C>T;c.1025-2A>C;c.1024+1G>A;c.858+1G>A;c.844C>T;c.829G>T;c.767_768insC;c.645-2A>T;c.515+2T>G;c.515+1G>A;c.508C>T;c.472C>T;c.424C>T;c.417+1G>A;c.392_393delCT;c.381delC;c.367dupC;c.261+2T>A;c.190+2T>C;c.184_190delACTGCCA;c.80+2T>C;c.51_55dupCCGGG |
| MLC1 | Leucoencefalopatía megalencefálica con quistes subcorticales | Autosómica recesiva | NM_015166.3 | c.1059+1G>A;c.973C>T;c.895-1G>C;c.714+1G>A;c.624_625delTG;c.594_597delCTCA;c.525+1G>A;c.449_455delTCCTGCT;c.448delC;c.424-2A>C;c.423C>A;c.422A>G;c.324delT;c.321+1G>A;c.321+1G>T;c.278C>T;c.274C>T;c.271_272delAT;c.223delG;c.206C>T;c.178-10T>A;c.176G>A;c.136delT;c.135dupC;c.83dupA;c.67C>T;c.42delG;c.33dupC |
| MMAA | Acidemia metilmalónica sensible a vitamina B12 | Autosómica recesiva | NM_172250.2 | c.15_16delAC;c.64C>T;c.72C>A;c.161G>A;c.202C>T;c.267_268delTT;c.266T>C;c.283C>T;c.358C>T;c.387C>A;c.397C>T;c.411_414delTAAA;c.433C>T;c.439+1G>A;c.441dupA;c.450dupG;c.455delC;c.503delC;c.527_528delTG;c.551dupG;c.562G>C;c.562+1G>A;c.562+1G>T;c.586C>T;c.593_596delCTGA;c.594dupT;c.620A>G;c.650T>A;c.651dupA;c.653G>A;c.733+1G>A;c.742C>T;c.812_813dupAG;c.811G>T;c.820-1G>A;c.970-2A>T;c.988C>T;c.1034delT;c.1075C>T;c.1076G>A;c.1084C>T |
| MMAB | Acidemia metilmalónica sensible a vitamina B12 | Autosómica recesiva | NM_052845.3 | c.700C>T;c.585-2A>C;c.584G>A;c.563_577dupTGTGCCGCCGGGCCG;c.573_577delGGCCG;c.570_572dupCCG;c.572G>A;c.571C>T;c.569G>A;c.568C>G;c.568C>T;c.563T>G;c.556C>T;c.454G>T;c.349-1G>C;c.291-1G>A;c.290G>A;c.287T>C;c.220G>T;c.197-1G>A;c.197-1G>T;c.12C>A |
| MMACHC | Acidemia metilmalónica y homocistinuria tipo cbIC | Autosómica recesiva | NM_015506.2 | c.1A>G;c.3G>A;c.81+2T>G;c.82-1G>A;c.90G>A;c.217C>T;c.271dupA;c.273_276delAGAG;c.285dupA;c.292C>T;c.310_313delGACT;c.315C>G;c.328_331delAACC;c.331C>T;c.347T>C;c.352delC;c.388_390delTAC;c.389A>G;c.391C>T;c.394C>T;c.398_399delAA;c.420G>A;c.427C>T;c.445_446delTG;c.440G>A;c.440G>C;c.457C>T;c.464G>A;c.471G>A;c.481C>T;c.482G>A;c.500delC;c.507_519delAGAGGTGCCAGAT;c.547_548delGT;c.565delC;c.567dupT;c.608G>A;c.609G>A;c.615C>A;c.615C>G;c.616C>T;c.619dupG;c.658_660delAAG;c.666C>A;c.688C>T |
| MMADHC | Homocistinuria tipo cbID, variante 1 | Autosómica recesiva | NM_015702.2 | c.795dupT;c.776T>C;c.748C>T;c.746A>G;c.545C>A;c.478+1G>T;c.472C>T;c.455dupC;c.419dupA;c.228dupG;c.160C>T;c.133dupG;c.57_64delCTCTTTAG;c.60_61insAT |
| MMUT | Acidemia metilmalónica tipo mut | Autosómica recesiva | NM_000255.3 | c.2200C>T;c.2193_2196dupTGCC;c.2194_2197delGCCGinsTGGAA;c.2179C>T;c.2150G>T;c.2106delA;c.2107G>C;c.2099T>A;c.2080C>T;c.2078delG;c.2054T>G;c.1975C>T;c.1962_1963delTC;c.1957-2A>G;c.1956+2T>C;c.1946delC;c.1924G>C;c.1889G>A;c.1885dupA;c.1885A>G;c.1880A>G;c.1874A>G;c.1871A>G;c.1867G>A;c.1867G>C;c.1853T>C;c.1777G>T;c.1741C>T;c.1718T>C;c.1677-1G>A;c.1677-1G>C;c.1663G>A;c.1658delT;c.1655C>T;c.1630_1631delGGinsTA;c.1599T>A;c.1560+1G>T;c.1553T>C;c.1531C>T;c.1489G>T;c.1481T>A;c.1445-2A>G;c.1420C>T;c.1399C>T;c.1351G>T;c.1332+1delG;c.1287C>G;c.1280G>A;c.1277G>A;c.1271C>T;c.1207C>T;c.1196_1197delTG;c.1181dupT;c.1181T>A;c.1164T>A;c.1130C>A;c.1126_1127delGC;c.1108A>C;c.1106G>A;c.1105C>T;c.1097A>G;c.1084-1G>A;c.1084-1G>C;c.1084-2A>G;c.1084-10A>G;c.1083+2T>A;c.1083+1G>A;c.1065_1068dupATGG;c.1025C>A;c.1022dupA;c.1007delT;c.982C>T;c.977G>A;c.976A>G;c.974G>A;c.935G>T;c.927G>A;c.914T>C;c.851G>A;c.850G>A;c.850G>T;c.842T>C;c.754-2A>G;c.753+2T>A;c.729_730insTT;c.692dupA;c.693C>G;c.691T>A;c.689C>G;c.682C>T;c.671_678dupAATTTATG;c.670G>T;c.655A>T;c.643G>A;c.643G>T;c.630delA;c.607G>A;c.572C>A;c.566A>T;c.560C>G;c.521T>C;c.467A>T;c.454C>T;c.415G>A;c.410C>G;c.397G>A;c.394C>T;c.385+2T>C;c.372_374dupGGA;c.360dupT;c.349G>T;c.330T>G;c.329A>G;c.323G>A;c.322C>T;c.312delC;c.313T>C;c.299A>G;c.284C>G;c.280G>A;c.278G>A;c.160A>T;c.129G>A;c.91C>T;c.88C>T;c.55dupG;c.52C>T;c.30dupA;c.29dupT;c.19C>T;c.2T>C;c.-39-1G>A |
| MOGS | Trastorno congénito de la glicosilación tipo 2b | Autosómica recesiva | NM_006302.2 | c.1457G>C;c.370C>T |
| MPI | Trastorno congénito de la glicosilación tipo 1b | Autosómica recesiva | NM_002435.2 | c.-1_3delCATG;c.120delC;c.145-1G>A;c.166dupC;c.305C>T;c.345+1G>A;c.413T>C;c.488-1G>A;c.488-1G>C;c.629delT;c.652A>T;c.656G>A;c.727C>T;c.740delG;c.802_803delAT;c.844+1G>A;c.884G>A;c.1016_1019delACCC;c.1253G>A |
| MPL | Trombocitopenia congénita amegacariocítica | Autosómica recesiva | NM_005373.2 | c.79+2T>A;c.127C>T;c.235_236delCT;c.305G>C;c.378delT;c.391+5G>C;c.556C>T;c.769C>T;c.823C>A;c.972delC;c.1303T>A;c.1468+2T>C;c.1473G>A;c.1513A>T;c.1514G>A;c.1543_1544delTGinsAA;c.1904C>T |
| MPV17 | Síndrome de depleción de ADN mitocondrial tipo 6 (hepatocerebral); Enfermedad Charcot-Marie-Tooth axonal tipo 2EE | Autosómica recesiva | NM_002437.4 | c.498C>A;c.462-2A>C;c.461+2T>C;c.461G>T;c.409-1G>C;c.408+1G>A;c.376-1G>A;c.376-2A>C;c.370C>T;c.359G>A;c.297T>A;c.293delC;c.293C>T;c.284dupG;c.263_265delAGA;c.206G>A;c.191C>G;c.186+2T>C;c.149G>A;c.148C>T;c.135delA;c.106C>T;c.70G>T;c.22dupC |
| MTM1 | Miopatía miotubular ligada al X | Ligada al X | NM_000252.2 | c.2T>G;c.3G>A;c.19delT;c.49G>T;c.63+1G>A;c.64-1G>A;c.70C>T;c.85C>T;c.96dupT;c.109C>T;c.130dupA;c.141_144delAGAA;c.142_143delGA;c.145G>A;c.145G>T;c.153_156delCATA;c.154delA;c.205C>G;c.205C>T;c.208C>T;c.226G>T;c.231+1G>A;c.231+2T>G;c.232-2A>C;c.232-1G>A;c.252delT;c.260T>C;c.342_342+4delAGTAA;c.340A>T;c.342+1G>A;c.343-2A>G;c.397_398delAT;c.402delT;c.419dupA;c.420C>G;c.431delT;c.444+1G>A;c.461T>G;c.465delT;c.469delG;c.469G>A;c.514G>T;c.528+1G>T;c.529-2A>G;c.535C>T;c.539_545delATCACCA;c.549dupG;c.549G>A;c.550A>G;c.557C>T;c.567_569delTAA;c.566A>G;c.591_594delTTAC;c.593dupA;c.595_599delCCTGC;c.605delT;c.611T>G;c.614C>T;c.629A>G;c.637C>T;c.664C>T;c.670C>T;c.676C>A;c.678+1G>A;c.679-1G>A;c.679G>A;c.683T>C;c.721C>T;c.743G>T;c.757C>T;c.779A>C;c.780T>A;c.791T>G;c.808_811delCAAA;c.867_867+1dupGG;c.867+1G>A;c.888_889delAA;c.912delC;c.949dupA;c.958T>C;c.961_962delTT;c.969delA;c.969dupA;c.1015dupT;c.1036T>C;c.1040T>G;c.1088_1089delAA;c.1089dupA;c.1120C>G;c.1132G>A;c.1136G>A;c.1137G>A;c.1139A>T;c.1160C>A;c.1180G>C;c.1190A>G;c.1191T>G;c.1204G>A;c.1205G>C;c.1210G>A;c.1227_1228delAGinsT;c.1232G>A;c.1244G>A;c.1260+1G>A;c.1261-10A>G;c.1261-1G>C;c.1261C>T;c.1262G>A;c.1283delA;c.1283_1286delACCA;c.1306_1310dupCCTAT;c.1307delC;c.1307C>T;c.1325T>A;c.1328A>C;c.1337G>A;c.1349_1353+4delAACAGGTAA;c.1353+1G>A;c.1353+2T>C;c.1354-1G>A;c.1357_1358delCC;c.1376A>T;c.1378G>T;c.1388T>C;c.1388T>G;c.1415_1416delGT;c.1420C>T;c.1427G>T;c.1433T>C;c.1456C>T;c.1464_1467delACAG;c.1467+1G>A;c.1467+1G>T;c.1467+2T>A;c.1490C>A;c.1495T>C;c.1509delC;c.1558C>T;c.1611C>A;c.1644+3_1644+6delAAGT;c.1644+1G>T;c.1792delC |
| MTR | Anemia megaloblastica homocistinuria tipo cblG | Autosómica recesiva | NM_000254.2 | c.1228G>C;c.1753C>T;c.2003delA;c.2114_2115delTC;c.2669_2670delTG;c.3380dupA;c.3518C>T;c.3613G>T |
| MTRR | Anemia megaloblastica homocistinuria tipo cblE | Autosómica recesiva | NM_024010.2 | c.1442C>T;c.1460T>G;c.1540G>A;c.1654C>T |
| MTTP | Abetalipoproteinemia | Autosómica recesiva | NM_001300785.1 | c.789_790delCA;c.1639-2A>G;c.1700G>A;c.1850G>T;c.1864C>T;c.1948+1G>A;c.2112delC;c.2293delT;c.2674G>T |
| MYO7A | Síndrome de Usher tipo 1B; Sordera autosómica recesiva tipo 2 | Autosómica recesiva | NM_000260.3 | c.3G>A;c.18+2T>A;c.19-2A>G;c.22dupG;c.19-1G>A;c.47T>A;c.52C>T;c.73G>A;c.93C>A;c.133-2A>C;c.133-2A>G;c.133G>T;c.137_138dupAC;c.141G>A;c.223delG;c.224dupA;c.285+1G>C;c.285+2T>C;c.285+2T>G;c.287C>T;c.324C>A;c.338_348dupTCTACTCGCCA;c.397dupC;c.397C>T;c.401T>A;c.448C>T;c.458G>A;c.470+1G>A;c.471-1G>A;c.487G>A;c.494C>T;c.496delG;c.565_566delGT;c.582delC;c.620A>G;c.634C>T;c.635G>A;c.640G>A;c.652G>A;c.689C>T;c.700C>T;c.721C>T;c.722G>A;c.731G>C;c.973_976delATCC;c.999T>G;c.1097T>C;c.1184G>A;c.1200+1G>A;c.1258A>T;c.1343+1G>A;c.1344-2A>G;c.1344-1G>A;c.1373A>T;c.1555-8C>G;c.1556G>A;c.1563delC;c.1591C>T;c.1623dupC;c.1667G>T;c.1690+1G>A;c.1691-2A>G;c.1797G>A;c.1798-1G>A;c.1820C>A;c.1845delG;c.1884C>A;c.1900C>T;c.1935+1G>C;c.1952_1953insAG;c.1952T>C;c.1963C>T;c.1976C>A;c.1977delA;c.1996C>T;c.2005C>T;c.2094+1G>A;c.2094+1G>C;c.2115C>A;c.2172delC;c.2187+1G>A;c.2241_2242delAG;c.2283-2_2293delAGGTCTAACTTTC;c.2283-1G>T;c.2307delC;c.2323C>T;c.2361C>A;c.2461C>T;c.2476G>A;c.2878G>T;c.2905-1G>A;c.3064_3067delCTCA;c.3262C>T;c.3298G>T;c.3310A>T;c.3327delC;c.3476G>T;c.3503G>A;c.3504-2A>G;c.3504-1G>C;c.3508G>A;c.3532delC;c.3543_3544dupCA;c.3564_3571delTGCCCGGGinsA;c.3576G>A;c.3594C>A;c.3596dupT;c.3628A>T;c.3631-1G>C;c.3696_3706delAAGGACCTTTG;c.3719G>A;c.3724C>T;c.3728dupC;c.3728C>G;c.3728C>T;c.3764delA;c.3815_3822delTGCTGACG;c.3892G>A;c.3924+1G>C;c.4006C>T;c.4024delT;c.4065delC;c.4074delC;c.4108_4111delCAGG;c.4117C>T;c.4153-2A>G;c.4184dupA;c.4254delC;c.4293G>A;c.4297delC;c.4442-2A>C;c.4442-1G>C;c.4502_4503delTG;c.4544_4551delAGATCATGinsCA;c.4555delG;c.4569-1G>A;c.4659_4660delCT;c.4821T>A;c.4838delA;c.4894delC;c.4919delG;c.5043+1G>T;c.5095C>T;c.5101C>T;c.5168+2T>C;c.5208dupC;c.5392C>T;c.5464A>C;c.5481-1G>C;c.5573T>C;c.5581dupC;c.5581C>T;c.5617C>T;c.5618G>A;c.5632delC;c.5636+2T>A;c.5648G>A;c.5660C>T;c.5797delA;c.5824G>T;c.5857-2A>G;c.5886_5889delCTTT;c.5899C>T;c.5945-1G>A;c.5945G>A;c.5967C>G;c.5968C>T;c.6025delG;c.6051+1G>A;c.6070C>T;c.6196C>T;c.6211C>T;c.6231dupG;c.6238-2A>C;c.6321G>A;c.6439-2A>G;c.6487G>A;c.6498C>A;c.6557T>C |
| NAGLU | Mucopolisacaridosis tipo 3B (Síndrome Sanfilippo B) | Autosómica recesiva | NM_000263.3 | c.217_221dupGCGCG;c.358G>T;c.383+1G>T;c.384-1G>A;c.419A>G;c.480delT;c.507_516delCGGCCAGGAG;c.503G>A;c.648dupC;c.694C>T;c.700C>T;c.798_805delCAGTTGGG;c.838_841delCTTC;c.867delC;c.889C>T;c.944dupA;c.1006G>T;c.1211G>A;c.1444C>T;c.1447dupT;c.1597C>T;c.1674C>G;c.1693C>T;c.1694G>A;c.1834A>G;c.1876C>T;c.1915G>T;c.1927C>T;c.1944dupG;c.1946G>T;c.1949G>A;c.2021G>A;c.2116C>T |
| NAGS | Déficit de N-acetil glutamato sintetasa | Autosómica recesiva | NM_153006.2 | c.570G>A;c.622C>T;c.916-2A>T;c.971G>A;c.1025delG;c.1289T>C;c.1299G>C;c.1307dupT;c.1323C>G;c.1450T>C |
| NBN | Síndrome de rotura de Nijmegen | Autosómica recesiva | NM_002485.4 | c.2235-2A>G;c.2234+2T>G;c.2194C>T;c.2188C>T;c.2185-1G>A;c.2184+1G>A;c.2165G>A;c.2161G>T;c.2140C>T;c.2117C>G;c.2108_2109dupTT;c.2083G>T;c.2071-1G>A;c.2071-1G>C;c.2071-2A>C;c.2070+2T>G;c.2056A>T;c.2049_2050delAAinsT;c.2041C>T;c.2000_2001delCT;c.1986_1999delGGTGATTAAAAACT;c.1974delA;c.1958dupA;c.1903A>T;c.1854_1857delTGAA;c.1848delA;c.1846-1G>A;c.1750G>T;c.1747C>T;c.1723G>T;c.1716dupA;c.1647_1651delAAAAA;c.1648_1651delAAAA;c.1651dupA;c.1640delC;c.1587dupA;c.1553C>G;c.1550dupA;c.1502G>A;c.1483_1484delCCinsA;c.1474C>T;c.1419_1431dupAGAAATGTCTTCA;c.1399G>T;c.1397+1_1397+9delGTCTGTTTTinsACA;c.1397+1delG;c.1397+2T>A;c.1396dupA;c.1255_1258delAATA;c.1171C>T;c.1142delC;c.1125G>A;c.1125-1G>A;c.1125-2A>G;c.1124+2T>G;c.1124+1G>A;c.1124+1G>C;c.1124G>A;c.1089C>A;c.1040C>G;c.1030C>T;c.995-1G>C;c.995-2A>C;c.995-2A>G;c.994+1G>T;c.976C>T;c.935T>A;c.917delC;c.897-2A>T;c.871C>T;c.842dupT;c.842T>G;c.836_839delAGAC;c.817dupA;c.808_809delGT;c.741_742dupGG;c.702+1G>A;c.702+1G>C;c.702+1G>T;c.698_701delAACA;c.697A>T;c.681delT;c.657_661delACAAA;c.591_603delCCCACCTCTTGATinsTTG;c.585-1G>A;c.585-2A>G;c.565C>T;c.531delT;c.481-2A>G;c.481-2A>T;c.445delC;c.383T>G;c.330T>G;c.325G>T;c.320+1G>A;c.317dupT;c.306delT;c.265C>T;c.222T>G;c.212_215delATTC;c.210_211delTA;c.211_212insGA;c.188delT;c.183delT;c.181_182delGA;c.178dupA;c.175C>T;c.163_171+3delACCAACCTGGTA;c.171+1G>A;c.156_157delTT;c.141_142delGT;c.127C>T;c.123delC;c.115delC;c.93_94delTG;c.88_89delAA;c.55_56delTT;c.37+1G>A;c.2T>C |
| NCF1 | Enfermedad crónica granulomatosa debido a deficiencia de NCF-1 | Autosómica recesiva | NM_000265.5 | c.75_76delGT;c.125G>A;c.186dupA;c.271C>T;c.333T>A;c.579G>A |
| NCF2 | Enfermedad crónica granulomatosa debido a deficiencia de NCF-2 | Autosómica recesiva | NM_000433.3 | c.1171_1175delAAGCT;c.1026+1G>C;c.835_836delAC;c.565C>T;c.482delA;c.399_400dupGA;c.383C>T;c.366+1G>A;c.366+1G>C;c.304C>T;c.298C>T;c.257+1G>A |
| NDRG1 | Enfermedad de Charcot-Marie-Tooth tipo 4D | Autosómica recesiva | NM_001135242.1 | c.928C>T;c.681dupC;c.538-1G>A;c.442C>T;c.205+1G>A;c.16C>T |
| NEB | Miopatía nemalínica autosómica recesiva tipo 2 | Autosómica recesiva | NM_001271208.1;NM_004543.4 | c.25509+2T>A;c.25445C>A;c.25441C>T;c.25402+1G>A;c.25288C>T;c.25279G>T;c.25256-1G>T;c.25163-2A>C;c.25162+1G>A;c.25162+1G>C;c.25162+1G>T;c.24871-9_24872delCTGCATCAGGT;c.24840_24841delAG;c.24778-2A>C;c.24770_24771delTT;c.24771delT;c.24744_24745delAA;c.24742G>T;c.24693C>G;c.24685-2A>G;c.24654_24655delAG;c.24632_24633delCT;c.24582_24585dupTATT;c.24559C>T;c.24500_24503dupTGTT;c.24499-1G>A;c.24498+1G>A;c.24482_24488delAAGAAAA;c.24473_24476dupAACA;c.24468_24469delAG;c.24458_24461dupAGAT;c.24444_24447delACCT;c.24414C>A;c.24410T>A;c.24405+1G>A;c.24372_24375delAAGA;c.24372_24375dupAAGA;c.24325G>T;c.24318_24319insAA;c.24314_24317dupTGTT;c.24317T>A;c.24312+2T>C;c.24294_24297dupTCAA;c.24282_24283delAG;c.24219+1G>A;c.24218C>A;c.24156delG;c.24127-1_24134delGGTGTTGTA;c.24129_24133dupGTTGT;c.24127-1G>A;c.24127-1G>C;c.24094C>T;c.23940+1G>A;c.23939C>A;c.23848-1G>C;c.23847+2T>C;c.23556+1G>C;c.23556+1G>T;c.23526_23527delAG;c.23500_23503dupGTTT;c.23483delT;c.23346+2T>A;c.23010+2T>C;c.22905+2T>G;c.22905+1G>A;c.22801-1G>A;c.22746delG;c.22696-1G>C;c.22695+2T>C;c.22594C>T;c.22584+1G>C;c.22378-1G>A;c.22275C>G;c.22243delG;c.22192C>T;c.21841-2A>G;c.21735+1G>A;c.21321C>G;c.21312+1G>A;c.21103delG;c.21093_21094delAG;c.21076C>T;c.20889dupT;c.20858delT;c.20845dupA;c.20788-1G>A;c.20787+2T>C;c.20659C>T;c.20577+2T>C;c.20514C>A;c.20467-1G>T;c.20158-1G>C;c.20157+2T>C;c.14805G>A;c.19836+1G>T;c.19712_19716delCTTATinsGAG;c.19405C>T;c.19207-1G>A;c.19097G>T;c.18891+1G>A;c.18862_18872delGTCCGAAACGC;c.18865C>T;c.18808C>T;c.18676C>T;c.18597delA;c.18471+1G>C;c.18261+1G>T;c.17845-1G>A;c.17557_17558delGA;c.17541dupA;c.17262G>A;c.16620T>A;c.16273C>T;c.12238_12239delAT;c.12018+1G>A;c.11909_11910+4delAAGTAA;c.11910+1G>A;c.11825G>A;c.11806-1G>A;c.11627G>A;c.11602-2A>C;c.11585_11586delATinsC;c.11289+1G>C;c.11181+2T>C;c.11164C>T;c.11076+1G>A;c.10899G>A;c.10872+1G>T;c.10560+1G>A;c.9831+1G>A;c.9724-1G>A;c.9724-2A>G;c.9619-1G>A;c.9619-2A>G;c.9485delT;c.9465delC;c.9459G>A;c.9440G>A;c.9428C>G;c.9414+1G>A;c.9414+1G>T;c.9246G>A;c.9102+1G>A;c.9046C>T;c.8994+2T>C;c.8889+1G>A;c.8887A>T;c.8860delG;c.8392_8395dupTATC;c.8374-1G>A;c.8265+1G>A;c.8031_8041delAAATAAACGAG;c.8038C>T;c.7647C>G;c.7523_7526delTCAA;c.7432-2A>G;c.7266_7268delAGGinsTC;c.7228-1G>A;c.7227+2T>C;c.6937C>T;c.6813_6814delCT;c.6808-2A>T;c.6385C>T;c.6183+2T>A;c.6183+1G>A;c.6105dupT;c.6078delA;c.6076-1G>T;c.6076-2A>C;c.6076-2A>G;c.6075+1G>A;c.5722delA;c.5574C>G;c.5452-2A>G;c.5364G>A;c.5344-1G>A;c.5344-1G>C;c.5031+1G>A;c.4720-2A>G;c.4719+2T>C;c.4506+1G>A;c.4300-2A>C;c.3988-1G>A;c.3987+1_3987+2delGTinsTG;c.3987+1G>A;c.3880-1G>T;c.3880-2A>G;c.3879+1G>A;c.3858C>A;c.3774+2T>C;c.3774+1G>A;c.3567+1G>A;c.3567+1G>C;c.3389_3390delAT;c.3255+1G>A;c.3255+1G>C;c.3255+1G>T;c.3043-1G>A;c.2944-1G>A;c.2943+1G>A;c.2920C>T;c.2784delT;c.2751delT;c.2659G>T;c.2416-1G>C;c.2415+2T>C;c.2415+1G>A;c.2415+1G>T;c.2391_2392delAG;c.2385delA;c.2310+2T>A;c.2212-2A>G;c.2211+1G>A;c.2173G>T;c.1897-1G>A;c.1802_1803delAT;c.1674+2T>C;c.1674+1G>T;c.1623delT;c.1570-2_1574delAGTTAAA;c.1570-2A>G;c.1569+1G>A;c.1471-1G>A;c.1470+1G>A;c.1366-2A>G;c.1365+2T>C;c.1258-2A>G;c.1161C>G;c.1153-2A>G;c.1152+1G>A;c.927+1G>A;c.843T>G;c.823-2A>G;c.613-1G>C;c.613-2A>G;c.507+1G>A;c.412C>T;c.295-1G>T;c.294+2T>C;c.78+1G>A;c.37-1G>A;c.37-1G>C;c.36+1G>T |
| NHP2 | Disqueratosis congénita autosómica recesiva tipo 2 | Autosómica recesiva | NM_017838.3 | c.460T>A;c.415T>C;c.289_290delAT |
| NOP10 | Disqueratosis congénita autosómica recesiva tipo 1 | Autosómica recesiva | NM_018648.3 | c.100C>T |
| NPC1 | Enfermedad de Niemann-Pick tipo C1 | Autosómica recesiva | NM_000271.4 | c.3754+1G>A;c.3754+1G>C;c.3754+1G>T;c.3742_3745delCTCA;c.3734_3735delCT;c.3666_3672delGATATTC;c.3662delT;c.3639G>C;c.3634G>T;c.3611_3614delTTAC;c.3613dupA;c.3614C>A;c.3614C>G;c.3612_3613delTAinsG;c.3592-1G>C;c.3591+2T>C;c.3591+1G>A;c.3570_3573dupACTT;c.3562delG;c.3557G>A;c.3503G>A;c.3493G>A;c.3467A>G;c.3461T>A;c.3451G>A;c.3425T>C;c.3417_3423delTGGAGTT;c.3325delA;c.3309dupT;c.3259T>C;c.3246-2A>G;c.3234_3237dupATTT;c.3229C>T;c.3182T>C;c.3175C>T;c.3107C>T;c.3104C>T;c.3042-1G>A;c.3042-2delA;c.3019C>G;c.2972_2973delAG;c.2974G>A;c.2974G>C;c.2974G>T;c.2965_2966delAG;c.2932C>T;c.2912-2A>C;c.2907_2908dupTT;c.2893C>T;c.2873G>A;c.2872C>T;c.2861C>T;c.2848G>A;c.2842G>A;c.2830G>A;c.2819C>T;c.2795dupA;c.2775delC;c.2764C>T;c.2761C>T;c.2728G>A;c.2712delG;c.2713C>T;c.2683dupG;c.2670C>G;c.2621A>T;c.2604+1G>A;c.2474A>G;c.2451_2454delGTTT;c.2366G>A;c.2324A>C;c.2302dupG;c.2286_2287delCT;c.2230_2231delGT;c.2213C>A;c.2201G>T;c.2196dupT;c.2177G>C;c.2131-2_2131delAGA;c.2128C>T;c.2072C>T;c.2054T>C;c.2050C>T;c.1990G>A;c.1948-1G>A;c.1948-2A>T;c.1947+5G>C;c.1947+2T>A;c.1947+2T>G;c.1947+1G>A;c.1920delG;c.1819C>T;c.1800delC;c.1761delT;c.1711delT;c.1628delC;c.1628C>T;c.1339C>T;c.1327-1G>A;c.1327-1G>C;c.1301C>T;c.1219C>T;c.1211G>A;c.1210C>T;c.1171G>T;c.1142G>A;c.1070C>T;c.1065delC;c.1042C>T;c.1033_1034delTT;c.1030delT;c.973_974dupGA;c.956-1G>A;c.881+1G>T;c.852delT;c.839delT;c.813_815delCAT;c.721C>T;c.631+2T>C;c.629delC;c.530G>A;c.526delC;c.500C>G;c.451_452delAG;c.433C>T;c.425_428delAAGA;c.423_424dupGA;c.416dupC;c.410C>T;c.397delG;c.395delC;c.352_353delAG;c.337T>C;c.306T>G;c.144_145insT;c.67delC;c.58-2A>T |
| NPC2 | Enfermedad de Niemann-Pick tipo C2 | Autosómica recesiva | NM_006432.3 | c.436C>T;c.422G>A;c.364-2A>G;c.358C>T;c.352G>T;c.295T>C;c.199T>C;c.190+5G>A;c.141C>A;c.133C>T;c.115G>A;c.82+2T>C;c.58G>T;c.27delG;c.3G>C |
| NPHS1 | Síndrome nefrótico tipo 1 | Autosómica recesiva | NM_004646.3 | c.3613delT;c.3595-2A>G;c.3594+1G>A;c.3478C>T;c.3442C>T;c.3388-1G>A;c.3388-2A>G;c.3356_3357dupGG;c.3325C>T;c.3312-1G>A;c.3287-2A>G;c.3250delG;c.3250dupG;c.3167-1G>A;c.3115dupC;c.3109+1G>A;c.3027C>G;c.3006_3012delTCTACAG;c.2944dupA;c.2928G>T;c.2927+1G>A;c.2905delC;c.2847_2853delTGTGAGT;c.2816-4_2822delATAGGCCGCCC;c.2783C>A;c.2770_2776delAACGCCC;c.2664-4_2670delCTAGGTACACG;c.2663_2663+9delGGTGAGCCCA;c.2663+2T>G;c.2625G>A;c.2618_2620delTCAinsCC;c.2606_2607dupCC;c.2596C>T;c.2549_2558delCTGCAGCTGG;c.2540_2543delCTAA;c.2515delC;c.2500G>T;c.2491C>T;c.2442C>G;c.2417C>A;c.2335-1G>A;c.2227delC;c.2216C>T;c.2206G>A;c.2172_2173delTG;c.2156_2163delTGCACTGC;c.2160dupC;c.2126T>G;c.2120G>A;c.2071+2T>C;c.2043G>T;c.2023_2024delGC;c.1971delC;c.1954C>T;c.1931-1G>A;c.1928T>C;c.1868G>T;c.1829T>A;c.1801G>C;c.1760T>G;c.1757+1G>A;c.1756A>G;c.1745delA;c.1715G>A;c.1707C>G;c.1701C>A;c.1672C>T;c.1583G>T;c.1481delC;c.1394G>A;c.1369delG;c.1337T>A;c.1334G>A;c.1316-2A>G;c.1307_1308dupAC;c.1292dupA;c.1275delC;c.1250G>T;c.1234G>T;c.1138C>T;c.1135_1136delCG;c.1135C>T;c.1134G>A;c.1126C>G;c.1103C>T;c.1102C>T;c.1099C>T;c.1096A>C;c.1040G>A;c.1020delT;c.1019C>A;c.1013-1G>C;c.866G>A;c.851delC;c.808G>T;c.802C>T;c.793T>C;c.736G>T;c.692C>A;c.661_662delAG;c.619delC;c.609-2A>C;c.595delG;c.574C>T;c.565G>T;c.534delG;c.532C>T;c.515_517delCCA;c.516delC;c.512T>A;c.500C>T;c.479G>C;c.468C>G;c.398-1G>A;c.398-2A>G;c.397+2T>C;c.320C>T;c.319G>A;c.313G>A;c.286C>G;c.248dupA;c.191G>C;c.174delT;c.139delG;c.121_122delCT;c.58+1G>A;c.58+1G>T |
| NPHS2 | Síndrome nefrótico tipo 2 | Autosómica recesiva | NM_014625.3 | c.964C>T;c.948delT;c.890C>T;c.874-1G>A;c.874-2A>C;c.873+2T>A;c.873+1G>A;c.871C>T;c.868G>A;c.859C>T;c.855_856delAA;c.851C>T;c.812C>T;c.795-1G>A;c.779T>A;c.738+2T>C;c.685C>T;c.643C>T;c.586C>T;c.538G>A;c.535-1G>T;c.503G>A;c.502C>T;c.479A>G;c.452-1G>A;c.451+2T>A;c.412C>T;c.385C>T;c.378+1G>A;c.369delC;c.275-2A>G;c.249delG;c.211C>T;c.156delG;c.138_142dupGGGCT;c.115C>T;c.104dupG |
| NR0B1 | Hipoplasia adrenal congénita | Ligada al X | NM_000475.4 | c.1364_1365delCA;c.1319A>T;c.1316T>G;c.1301delT;c.1274G>T;c.1231_1234delCTCA;c.1197C>A;c.1183C>T;c.1169-1G>A;c.1146G>T;c.1142T>A;c.1141C>T;c.1138T>G;c.1107G>A;c.1094T>C;c.890T>C;c.873G>C;c.872G>C;c.847C>T;c.844C>T;c.813C>G;c.800G>C;c.788T>A;c.765C>A;c.754delC;c.745_746delAA;c.708G>A;c.704G>A;c.591C>A;c.551_552delAA;c.548delG;c.548dupG;c.543delA;c.516G>A;c.513G>A;c.501delA;c.388_389delTA;c.327C>A;c.315G>A;c.273C>A;c.116G>A;c.109C>T |
| NR2E3 | Síndrome del cono-S aumentado (Goldmann-Favre); Retinosis pigmentaria tipo 37 | Autosómica recesiva; Autosómica recesiva* | NM_014249.3 | c.119-2A>C;c.166G>A;c.226C>T;c.298_299delTG;c.311G>A;c.373C>T;c.724_725delTC;c.926G>T;c.932G>A;c.1034_1038delTGCAG |
| NTRK1 | Insensibilidad congénita al dolor con anhidrosis | Autosómica recesiva | NM_002529.3 | c.25C>T;c.207_208delTG;c.360-2A>C;c.424G>T;c.526C>T;c.1076A>G;c.1196-1G>A;c.1444A>T;c.1550G>A;c.1660delC;c.1727delT;c.1729G>C;c.1759A>G;c.1860_1861insT;c.1926_1927insT;c.1946G>A;c.2020G>T;c.2046+1G>T;c.2084C>T;c.2281C>T;c.2339G>C |
| OAT | Deficiencia de ornitina aminotransferasa (Atrofia girada de la coroides y la retina) | Autosómica recesiva | NM_000274.3 | c.1307T>A;c.1276C>T;c.1250C>T;c.1205T>C;c.1201G>T;c.1192C>T;c.1186C>T;c.1181G>A;c.1180T>C;c.1124G>C;c.1058G>A;c.1031delA;c.994G>A;c.991C>T;c.955C>T;c.952delG;c.952G>A;c.901-2A>G;c.897C>G;c.824G>A;c.812G>A;c.808G>C;c.800C>T;c.772-1G>A;c.749G>C;c.748C>T;c.734A>G;c.722C>T;c.710G>A;c.698A>G;c.677C>T;c.627T>A;c.596C>A;c.550G>A;c.542C>T;c.539G>C;c.533_537delGGGGT;c.533G>A;c.461G>T;c.425-4_429delATAGGAGTG;c.425G>A;c.425-2A>G;c.381dupT;c.362G>A;c.311A>G;c.278G>T;c.272G>A;c.268C>G;c.267C>A;c.163T>C;c.159delC;c.3G>A |
| OCA2 | Albinismo oculocutáneo tipo 2 | Autosómica recesiva | NM_000275.2 | c.2425T>A;c.2344G>A;c.2339G>A;c.2338+2T>G;c.2228C>T;c.2177_2181delTCCTG;c.2080-1G>A;c.2055delT;c.2037G>C;c.2020C>G;c.1960delG;c.1842+1G>T;c.1503+5G>A;c.1465A>G;c.1427A>G;c.1364+1G>T;c.1327G>A;c.1211C>T;c.1183A>C;c.1182+2T>C;c.1182+1G>A;c.1182G>A;c.1044+1G>T;c.1025A>G;c.867delC;c.819_822delCTGGinsGGTC;c.807+1G>T;c.593C>T;c.440dupT;c.157delA;c.79G>A |
| OCRL | Síndrome de Lowe; Enfermedad de Dent tipo 2 | Ligada al X | NM_001318784.1 | c.563+1G>C;c.912_913delAG;c.955C>T;c.1003C>T;c.1098delC;c.1127A>G;c.1439A>G;c.1480C>T;c.1502G>A;c.1573C>T;c.1575C>G;c.1576A>C;c.1579C>T;c.1624C>T;c.1717-1G>A;c.2302C>T;c.2363_2364delTG;c.2406dupA;c.2431C>T;c.2473-2A>G;c.2533C>T;c.2538delA;c.2566delG;c.2585-1G>A;c.2585-1G>T |
| OPA3 | Aciduria 3-metilglutacónica tipo 3 | Autosómica recesiva | NM_001017989.2;NM_025136.3 | c.220delG;c.415C>T;c.143-1G>C;c.142+1G>A |
| OSTM1 | Osteopetrosis autosómica recesiva tipo 5 | Autosómica recesiva | NM_014028.3 | c.415_416delAG;c.36T>A |
| OTC | Déficit de ornitina transcarbamilasa | Ligada al X | NM_000531.5 | c.1A>G;c.1A>T;c.2T>C;c.3G>A;c.29_32delACAA;c.42delT;c.53delA;c.67C>T;c.77G>A;c.77+1G>A;c.77+1G>T;c.78-1G>C;c.94C>T;c.106C>T;c.118C>T;c.119G>A;c.122A>G;c.127C>T;c.131C>T;c.133C>G;c.134T>C;c.140delA;c.140_141insG;c.140A>T;c.143T>C;c.145A>C;c.148G>A;c.148G>T;c.154G>A;c.154G>T;c.155A>G;c.156A>T;c.158T>C;c.158T>G;c.163T>G;c.167T>C;c.170T>A;c.174G>A;c.179C>T;c.188T>C;c.200T>G;c.205C>T;c.216+1delG;c.216+1G>A;c.216+1G>T;c.217-1G>A;c.227T>C;c.231G>T;c.232C>T;c.236G>A;c.238A>G;c.240G>T;c.243_245delCTT;c.245T>G;c.247G>C;c.248G>A;c.254T>C;c.259G>A;c.264A>T;c.268A>G;c.269G>A;c.270T>G;c.271delA;c.274C>G;c.274C>T;c.275G>A;c.275G>C;c.275G>T;c.277A>G;c.281G>C;c.284T>C;c.298+1_298+5delGTAAG;c.298+1G>A;c.298+1G>T;c.298+2T>G;c.299G>A;c.305C>A;c.314G>T;c.316G>A;c.317G>A;c.317G>T;c.330delT;c.332T>C;c.350A>G;c.350A>T;c.359_360delTG;c.364_365insTT;c.365A>G;c.376delG;c.377A>G;c.386G>A;c.386G>C;c.386+1G>A;c.386+1G>T;c.386+2T>C;c.387-2A>C;c.387-2A>G;c.387-2A>T;c.390_392dupATT;c.391_397dupTTGTCTA;c.392T>C;c.394T>C;c.395C>T;c.403delG;c.404C>A;c.407A>T;c.409G>A;c.416T>C;c.418G>C;c.421C>G;c.421C>T;c.422G>A;c.422G>C;c.425T>A;c.430A>T;c.437C>G;c.443T>C;c.443T>G;c.444G>C;c.444G>T;c.451delC;c.452T>G;c.455C>T;c.460G>T;c.463G>C;c.463G>T;c.464C>A;c.476T>C;c.479T>A;c.479T>C;c.479T>G;c.481A>G;c.482A>G;c.484G>A;c.484G>C;c.485G>A;c.490T>C;c.491C>G;c.493G>T;c.501C>A;c.501C>G;c.503A>C;c.503A>G;c.504T>A;c.505C>G;c.506C>T;c.514A>T;c.516C>G;c.517C>G;c.520G>C;c.524A>G;c.524A>T;c.526T>C;c.527A>G;c.532_537delACGCTC;c.533C>T;c.536T>C;c.540+1G>C;c.540+1G>T;c.540+2T>A;c.540+2T>C;c.540+265G>A;c.541-2A>G;c.542A>G;c.562_563delGG;c.562G>C;c.563G>T;c.571C>T;c.576C>G;c.577T>C;c.577T>G;c.578G>A;c.586delG;c.583G>A;c.586G>A;c.586G>T;c.587A>T;c.589G>A;c.589G>T;c.590G>A;c.593A>T;c.594C>A;c.595A>G;c.596A>G;c.602T>C;c.604C>T;c.605A>C;c.608C>G;c.613A>G;c.615G>C;c.617T>G;c.618G>C;c.620G>A;c.621C>A;c.622G>A;c.626C>T;c.628A>C;c.634G>T;c.640C>T;c.643C>T;c.645dupT;c.646C>G;c.650C>A;c.658C>G;c.659C>T;c.663G>C;c.663+1G>A;c.663+1G>T;c.663+2T>C;c.665delG;c.664-1G>A;c.673C>A;c.674C>G;c.674C>T;c.698C>T;c.700G>T;c.716A>G;c.716A>T;c.717G>C;c.717+1G>A;c.717+1G>T;c.717+2T>C;c.718-2A>G;c.725C>T;c.731T>A;c.740C>A;c.757G>A;c.757G>C;c.759delA;c.779T>C;c.785C>A;c.785C>T;c.787G>A;c.788A>G;c.790A>G;c.791C>A;c.791C>T;c.793T>C;c.794G>T;c.795G>A;c.799A>C;c.803T>C;c.806G>A;c.808C>T;c.809A>C;c.818delA;c.829C>T;c.830G>A;c.830G>T;c.835C>T;c.867G>T;c.867+1G>A;c.867+1G>T;c.868-2A>T;c.876delA;c.882delT;c.890_893delACTG;c.892_893delTG;c.893G>C;c.903A>T;c.904C>T;c.905A>G;c.905A>T;c.906delC;c.906C>G;c.907T>C;c.907T>G;c.908G>A;c.912G>T;c.914C>A;c.914C>G;c.919A>G;c.928G>T;c.929A>G;c.931G>A;c.941_943delAAG;c.943G>T;c.944T>A;c.944T>G;c.947T>C;c.953C>T;c.958C>T;c.959G>T;c.962C>A;c.976G>A;c.982G>T;c.991A>T;c.994T>A;c.995G>A;c.996G>A;c.1005G>A;c.1005+1G>T;c.1005+2T>C;c.1006-1G>A;c.1006G>T;c.1009G>C;c.1015G>C;c.1018T>C;c.1022T>C;c.1028C>A;c.1033T>C;c.1033T>G;c.1034A>G;c.1042C>T |
| P3H1 | Osteogénesis imperfecta tipo 8 | Autosómica recesiva | NM_001243246.1 | c.1656C>A;c.1569+1G>A;c.1473+1G>T;c.1365_1366delAGinsC;c.1346-1G>C;c.1222A>T;c.1171-2A>T;c.1120G>T;c.1102C>T;c.1080+1G>T;c.940+1G>T;c.747delC;c.570_571delTG;c.392C>A |
| PAH | Fenilcetonuria | Autosómica recesiva | NM_000277.1 | c.1355dupA;c.1340C>A;c.1314_1315+4delCAGTAA;c.1315+2T>C;c.1315+1G>A;c.1315+1G>T;c.1301C>A;c.1298dupT;c.1293_1294delGA;c.1282C>T;c.1256A>G;c.1252A>C;c.1249T>C;c.1243G>A;c.1241A>G;c.1240T>C;c.1238G>C;c.1223G>A;c.1222C>T;c.1220C>T;c.1219C>T;c.1217T>C;c.1209delT;c.1208C>T;c.1200-1G>A;c.1200-8G>A;c.1199+17G>A;c.1199+2T>G;c.1199+1G>A;c.1199+1G>C;c.1198delA;c.1197A>T;c.1196T>C;c.1184C>A;c.1184C>G;c.1180G>C;c.1180G>T;c.1171_1172delAG;c.1172G>C;c.1171A>G;c.1169A>G;c.1166delC;c.1163T>C;c.1162G>A;c.1162G>C;c.1157A>G;c.1147C>T;c.1139C>T;c.1129delT;c.1114A>T;c.1089delG;c.1076C>G;c.1068C>A;c.1068C>G;c.1066-2A>T;c.1066-3C>T;c.1066-11G>A;c.1065+1G>A;c.1055delG;c.1049C>A;c.1045T>C;c.1042C>G;c.1033G>A;c.1033G>T;c.1030G>A;c.1028A>G;c.1024delG;c.1025C>A;c.1004A>C;c.997C>T;c.992T>C;c.978G>A;c.977G>A;c.975C>G;c.974A>G;c.970-1G>A;c.970-1G>C;c.967_969delACA;c.960G>C;c.955G>T;c.941C>A;c.940C>A;c.934G>T;c.931_932delCT;c.932T>C;c.929C>T;c.926C>A;c.926C>T;c.916delA;c.916A>G;c.913-2A>C;c.913-7A>G;c.912+2T>C;c.912+1G>A;c.910C>T;c.901C>A;c.898G>T;c.896T>G;c.895T>C;c.890G>A;c.887A>G;c.869A>T;c.847A>T;c.844G>A;c.842+5G>A;c.842+4A>G;c.842+3G>C;c.842+2T>A;c.842+1G>A;c.842C>T;c.841C>G;c.841C>T;c.839A>G;c.837delC;c.838G>A;c.836C>T;c.833C>A;c.833C>T;c.830A>G;c.829T>G;c.826A>G;c.824C>G;c.824C>T;c.823C>T;c.818C>T;c.814G>T;c.809G>A;c.806delT;c.806T>A;c.796A>C;c.790delC;c.785T>G;c.782G>A;c.782G>C;c.781C>G;c.781C>T;c.776C>T;c.775G>A;c.770G>T;c.764T>C;c.757G>A;c.755G>A;c.754C>G;c.754C>T;c.745delC;c.745C>T;c.740G>T;c.739G>C;c.737delC;c.737C>A;c.734_735delTGinsCA;c.734T>A;c.734T>C;c.733G>C;c.731C>T;c.728G>A;c.727C>T;c.724C>T;c.722delG;c.722G>A;c.722G>T;c.721C>T;c.694C>T;c.691T>C;c.689T>C;c.688G>A;c.686dupA;c.682G>A;c.673C>A;c.673C>G;c.664_665delGA;c.665A>G;c.662A>G;c.648C>G;c.638T>C;c.635T>C;c.632delC;c.632C>T;c.631C>A;c.618C>A;c.618C>G;c.612T>G;c.611A>G;c.591G>C;c.580_581delCT;c.581T>C;c.569T>C;c.563G>A;c.561G>A;c.558_559delAT;c.556delA;c.547_548delGAinsTT;c.535T>A;c.533A>G;c.529G>A;c.529G>C;c.527G>T;c.526C>T;c.520A>G;c.511G>A;c.510-2A>G;c.509+1G>A;c.508C>G;c.506G>A;c.505C>T;c.503delA;c.504C>A;c.500A>T;c.498C>G;c.490A>G;c.482T>C;c.473G>A;c.472C>T;c.470_471delGAinsAC;c.464G>A;c.464G>C;c.450dupA;c.442-1G>A;c.442-2A>C;c.442-5C>G;c.441+5G>T;c.441+4A>G;c.441+1G>A;c.441+1G>C;c.440C>T;c.434A>T;c.398_401delATCA;c.400C>T;c.385G>T;c.357delC;c.355C>T;c.350delC;c.331C>T;c.329delC;c.320A>G;c.311C>A;c.284_286delTCA;c.283A>T;c.266dupC;c.261C>A;c.250G>T;c.242C>A;c.227A>G;c.226G>T;c.212G>A;c.208_210delTCT;c.204A>T;c.196G>T;c.194T>C;c.169G>A;c.169G>T;c.169-2A>G;c.168+5G>C;c.168_168+1delGGinsAA;c.168+1G>A;c.165delT;c.165T>G;c.164T>C;c.143T>C;c.140C>T;c.136G>A;c.127G>T;c.121C>T;c.116_118delTCT;c.117C>G;c.110T>C;c.60+5G>T;c.60+1G>C;c.58C>T;c.47_48delCT;c.3G>A;c.3G>C;c.1A>G |
| PC | Déficit de piruvato carboxilasa | Autosómica recesiva | NM_000920.3 | c.3409_3410delCT;c.2493_2494delGT;c.2229G>T;c.2114C>A;c.1892G>A;c.1828G>A;c.1748G>T;c.1705A>G;c.1368+1G>A;c.1357C>T;c.1351C>T;c.1043delA;c.1022+1G>A;c.633+2T>C;c.434T>C;c.184C>T;c.52C>T |
| PCCA | Acidemia propionica | Autosómica recesiva | NM_000282.3 | c.69_78delGCAGCTGATG;c.105+1G>A;c.134_135delTA;c.183delA;c.183+2T>C;c.184-1G>A;c.229C>T;c.231+1G>C;c.232-1G>A;c.261dupT;c.284A>G;c.412G>A;c.425G>A;c.431G>T;c.440delC;c.467T>A;c.491T>C;c.548T>G;c.600+1G>A;c.600+1G>T;c.722delG;c.775_779delCTAAT;c.843delT;c.862A>G;c.862A>T;c.863G>A;c.878A>G;c.893A>G;c.915-1G>C;c.937C>T;c.1023dupT;c.1118T>A;c.1190_1193delAATG;c.1226_1227delTT;c.1284+1G>A;c.1426C>T;c.1540+1G>C;c.1540+2T>A;c.1598_1601delTTGT;c.1685C>G;c.1747-1G>C;c.1788G>A;c.1846-1G>A;c.1855C>T;c.1891G>C;c.1899+4_1899+7delAGTA;c.2002G>A;c.2040+1G>T;c.2041-2A>G;c.2056G>T;c.2103delT;c.2118+1G>A |
| PCCB | Acidemia propionica | Autosómica recesiva | NM_001178014.1 | c.183+1G>A;c.184-2A>G;c.184-1G>A;c.280G>T;c.331C>T;c.335G>A;c.337C>T;c.372+2T>C;c.446_447delTTinsAAC;c.478_489dupAAGATCTGCAAA;c.489+1G>A;c.517G>C;c.547_548dupGG;c.553C>T;c.554G>A;c.562G>A;c.577_578delTT;c.604-2A>G;c.613dupA;c.622G>A;c.709dupG;c.714+1G>C;c.743C>T;c.823+1G>A;c.823+2T>A;c.824-2delA;c.898dupC;c.944+1G>C;c.945-2A>G;c.1002C>A;c.1026+1G>T;c.1027-2A>C;c.1050dupT;c.1150+2T>C;c.1233dupT;c.1270G>A;c.1278_1291delGGGCATCATCCGGCinsTAGAGCACAGGA;c.1279_1284delGGCATCinsAA;c.1283_1286delTCAT;c.1288C>T;c.1289_1290insT;c.1320dupT;c.1343C>T;c.1360-2A>C;c.1364A>G;c.1376A>G;c.1439_1445delTTGCAGT;c.1458+1G>T;c.1555C>T;c.1558+2T>C;c.1594C>T;c.1598_1600dupCCC;c.1600C>T;c.1616T>C;c.1666A>G |
| PCDH15 | Sordera autosómica recesiva tipo 23; Síndrome de Usher tipo 1D/1F digénico | Autosómica recesiva | NM_001142763.1;NM_001142771.1;NM_001142766.1 | c.5680A>T;c.4982_4983insTGAT;c.4958_4961dupTGAT;c.4885delA;c.4569_4572dupATCT;c.4483_4490dupAATACTAT;c.4389-2A>T;c.4384T>C;c.4358+1G>A;c.4328delC;c.4252_4253delGC;c.4242T>A;c.4226+2T>G;c.4226+1G>A;c.4212_4213insGTAG;c.4050T>A;c.3999-1G>C;c.3999-2A>G;c.3998+1G>T;c.3900_3904dupAGATG;c.3822-2A>G;c.3821+2T>C;c.3821+1G>C;c.3807_3813dupAGAAGAT;c.3806_3809delTAGA;c.3746_3749delATCA;c.3733-2A>G;c.3732+1G>A;c.3668delT;c.3517-2A>G;c.3516+1G>T;c.3456dupA;c.3389-1G>T;c.3373C>T;c.3356delT;c.3331C>T;c.3248-2A>G;c.3226delA;c.3138-1G>A;c.3137+2T>A;c.3097delC;c.3038delC;c.2986C>T;c.2884-1G>T;c.2840delG;c.2800C>T;c.2766+2T>C;c.2660_2661delAT;c.2639C>A;c.2502dupA;c.2434dupA;c.2106+2T>C;c.2067C>A;c.2013-2A>G;c.2012+1G>A;c.2012+1G>T;c.1955C>G;c.1942C>T;c.1932+2T>C;c.1930C>T;c.1845_1848delTCAA;c.1821T>G;c.1800-2A>C;c.1785_1786delTC;c.1752C>G;c.1652_1653delAT;c.1642delG;c.1598T>A;c.1320+1G>A;c.1320+1G>C;c.1103delT;c.1021C>T;c.916dupA;c.800G>A;c.748C>T;c.720+1G>A;c.662T>G;c.609+1G>T;c.415C>G;c.415C>T;c.409dupG;c.373_374delTG;c.348dupA;c.289C>T;c.173-1G>A;c.173-2A>T;c.172+1G>C;c.160G>T;c.16delT;c.7C>T |
| PDHA1 | Déficit de piruvato deshidrogenasa E1 alfa | Ligada al X | NM_001173454.1 | c.172-1G>A;c.328C>T;c.536G>A;c.597C>T;c.620C>T;c.754T>C;c.764C>T;c.841T>A;c.874-1G>T;c.887A>C;c.901C>G;c.946-1G>A;c.946G>A;c.972_975dupTTAC;c.975_976insT;c.977G>A;c.1014-2A>G;c.1018C>T;c.1019G>A;c.1024C>T;c.1048_1054delAGTAAGA;c.1050_1053delTAAG;c.1051_1054dupAAGA;c.1057G>A;c.1068dupG;c.1099_1112dupCTTGCCAGTGTGGA;c.1214A>C;c.1246C>T;c.1247G>A;c.1256_1259dupATCA;c.1273_1276dupAAGT;c.1273_1274delAA |
| PEX1 | Síndrome de Heimler tipo 1 | Autosómica recesiva | NM_000466.2 | c.3750G>A;c.3693_3696delGTCA;c.3580_3581delGA;c.3574C>T;c.3547G>T;c.3505_3517delCAGTTGTTTTCAC;c.3517C>T;c.3455_3456delCT;c.3455_3456dupCT;c.3438+1G>T;c.3379dupC;c.3303_3304dupAT;c.3237_3238delAA;c.3208-1G>A;c.3205C>T;c.2992C>T;c.2927-2A>G;c.2926+2T>C;c.2926+1G>A;c.2922delA;c.2916delA;c.2894T>C;c.2875C>T;c.2859dupT;c.2798dupA;c.2760delA;c.2730delA;c.2723delC;c.2719-2A>G;c.2686C>T;c.2617C>T;c.2614C>T;c.2528G>A;c.2488_2489dupAA;c.2489dupA;c.2391_2392delTC;c.2383C>T;c.2230C>T;c.2176C>T;c.2162_2166delTACTT;c.2137C>T;c.2097dupT;c.2071+2T>C;c.2034_2035delCA;c.1991T>C;c.1964_1970dupAGCCATC;c.1952_1960dupCAGTGTGGA;c.1927dupA;c.1926_1927delAAinsC;c.1921C>T;c.1908delG;c.1897C>T;c.1886_1887delGT;c.1842delA;c.1803+1G>T;c.1792delA;c.1765G>T;c.1716_1717delCA;c.1670+1G>A;c.1670+1G>T;c.1587+2T>C;c.1587+1G>A;c.1527delA;c.1528G>T;c.1522dupG;c.1501_1502delCT;c.1439delT;c.1414C>T;c.1239+1G>A;c.1239+1G>T;c.1155delA;c.1131delA;c.1108delA;c.1076delA;c.1074_1075delGA;c.911_912delCT;c.892_895dupTATA;c.877C>T;c.782_783delAA;c.760dupT;c.734delT;c.657_660delGTCA;c.643_647delACCAA;c.569C>A;c.547C>T;c.473-1G>A;c.473-1G>C;c.472+1G>A;c.431dupC;c.358-1G>T;c.358-2A>C;c.358-2A>G;c.357+1G>A;c.348G>A;c.273+1G>A;c.130-1G>C;c.5G>A;c.3G>A;c.2T>C;c.1A>T |
| PEX2 | Trastorno de la biogénesis peroxisomal tipo 5A (Síndrome de Zellweger) | Autosómica recesiva | NM_000318.2 | c.865dupA;c.834_838delTACTT;c.789_790delCT;c.739T>C;c.669G>A;c.373C>T;c.355C>T;c.339_345delCAGGTGG;c.279_283delGAGAT;c.163G>A |
| PEX5 | Trastorno de la biogénesis peroxisomal tipo 2A (Síndrome de Zellweger) | Autosómica recesiva | NM_001300789.1 | c.512-2A>G;c.615-1G>A;c.740dupA;c.1342C>T;c.1641T>G;c.1862C>T |
| PEX6 | Trastorno de la biogénesis peroxisomal tipo 4A (Síndrome de Zellweger); Trastorno de la biogénesis peroxisomal tipo 4B; Síndrome de Heimler tipo 2 | Autosómica recesiva; Autosómica recesiva*; Autosómica recesiva | NM_000287.3 | c.2806+1G>A;c.2714G>T;c.2667-2A>C;c.2578C>T;c.2472-2A>G;c.2439dupG;c.2440C>T;c.2362+1G>A;c.2082delT;c.1962-1G>A;c.1947delG;c.1941C>A;c.1930C>T;c.1841delT;c.1715C>T;c.1601T>C;c.1360C>T;c.1338_1339delTG;c.1314_1321delGGAGGCCT;c.1287delC;c.1234-1G>T;c.1233+1G>A;c.1202T>A;c.1130+2T>C;c.1046+1G>A;c.821C>T;c.802_815delGACGGACTGGCGCT;c.689_690dupAG;c.684dupC;c.661G>T;c.654C>G;c.517delA;c.510dupT;c.311delG;c.273G>A |
| PEX7 | Condrodisplasia punctata rizomélica tipo 1 | Autosómica recesiva | NM_000288.3 | c.13_19dupTGCGGTG;c.45_52dupGGGACGCC;c.120C>G;c.130+1G>C;c.131-2A>G;c.183delT;c.188+1G>C;c.189-2A>G;c.277C>T;c.334C>T;c.339+2T>C;c.340-10A>G;c.345T>G;c.357G>A;c.373G>T;c.400G>A;c.429delT;c.508delT;c.527-2A>G;c.532C>T;c.545dupT;c.618G>A;c.633+1G>A;c.649G>A;c.653C>T;c.694C>T;c.748-2A>G;c.774_784delGGCCTCTTGCT;c.854A>G;c.871_874delGGTT;c.875T>A;c.903+1G>C |
| PHGDH | Síndrome de Neu-Laxova tipo 1; Deficiencia de 3-fosfoglicerato deshidrogenasa | Autosómica recesiva | NM_006623.3 | c.290+2T>C;c.374C>T;c.403C>T;c.418G>A;c.714delG;c.781G>A;c.793G>A;c.856G>C;c.1030C>T;c.1129G>A;c.1273G>A;c.1468G>A;c.1567C>T |
| PKHD1 | Enfermedad renal poliquística tipo 4 | Autosómica recesiva | NM_138694.3 | c.12027C>G;c.11785+1G>T;c.11776delG;c.11747C>G;c.11665+1G>A;c.11612G>A;c.11524C>T;c.11363_11372delCTTCCCTGGA;c.11314C>T;c.11311-2A>G;c.11212_11213delAT;c.11147_11150delCTCA;c.11074C>T;c.10972_10973delAT;c.10893_10894delTA;c.10856delA;c.10826delA;c.10735delG;c.10709C>G;c.10637delT;c.10561_10562delCA;c.10461dupG;c.10452dupT;c.10444C>T;c.10418delT;c.10411delG;c.10412T>G;c.10219C>T;c.10199dupT;c.10194delT;c.10186_10190delTACCA;c.10174C>T;c.10136delC;c.10109dupT;c.10036_10045delTGTGCAAGTC;c.10031T>G;c.9998+1G>T;c.9901G>T;c.9856_9859dupAGTT;c.9743delT;c.9719G>A;c.9719G>T;c.9718C>T;c.9689delA;c.9683C>A;c.9646C>T;c.9559delT;c.9530T>C;c.9470_9473dupCCAT;c.9370C>T;c.9319C>T;c.9296C>A;c.9053C>T;c.8958delT;c.8950+1G>T;c.8870T>C;c.8832delT;c.8824C>T;c.8764_8765delAG;c.8677dupC;c.8555-2A>C;c.8555-2A>G;c.8411T>A;c.8408G>A;c.8407T>C;c.8317G>T;c.8303-1G>A;c.8303-2A>G;c.8190delT;c.8162delC;c.8107+1G>C;c.8068T>C;c.8050C>T;c.8011C>T;c.7967_7968delCA;c.7916C>A;c.7912-1G>A;c.7912-2A>G;c.7893delG;c.7866delC;c.7719dupT;c.7713delT;c.7696G>T;c.7560dupT;c.7486+1G>T;c.7351-1G>C;c.7350+1G>T;c.7270delG;c.7194G>A;c.7122delT;c.7084C>T;c.6992T>A;c.6910C>T;c.6907A>T;c.6861delA;c.6809-2A>G;c.6526A>T;c.6499C>T;c.6491-1G>A;c.6490+1G>A;c.6383delT;c.6296_6297delTG;c.6091delG;c.6029delA;c.5912G>A;c.5909-2delA;c.5895dupA;c.5879_5880delCA;c.5825A>G;c.5752-2A>G;c.5751+1G>A;c.5513A>G;c.5485C>T;c.5457_5458delTG;c.5452C>T;c.5448T>A;c.5411delG;c.5372C>T;c.5325_5326delAG;c.5323C>T;c.5237-2A>C;c.5236+1G>A;c.5134G>A;c.5081dupG;c.5060T>C;c.5023delG;c.4890delG;c.4882C>G;c.4870C>T;c.4822_4823delAT;c.4733delA;c.4593dupT;c.4574delC;c.4557delT;c.4417C>T;c.4415delGinsTATTCCCC;c.4292G>A;c.4141delG;c.4121delG;c.3943delC;c.3940delA;c.3766delC;c.3761_3762delCCinsG;c.3561-2A>G;c.3528dupC;c.3463_3464dupCA;c.3463C>T;c.3367G>A;c.3313delT;c.3302delC;c.3229-2A>C;c.3228+1G>C;c.3228+1G>T;c.3097+2T>C;c.2854G>A;c.2827_2828delGA;c.2822-1G>C;c.2813delA;c.2811G>A;c.2810G>A;c.2725C>T;c.2715+1G>C;c.2590delA;c.2452C>T;c.2414C>T;c.2408-2A>G;c.2407+1G>A;c.2346_2352delGCGGACA;c.2341C>T;c.2299_2306delACAGAAGAinsTCTG;c.2279G>A;c.2264C>T;c.2192C>A;c.2180dupA;c.2141-2A>C;c.2140+1G>C;c.2140+1G>T;c.1830T>A;c.1694-1G>A;c.1623_1626dupGTTA;c.1602+1G>A;c.1486C>T;c.1480C>T;c.1458C>A;c.1409delG;c.1205delT;c.1095G>A;c.1068dupT;c.982C>T;c.930delC;c.881-1G>A;c.765C>G;c.748C>T;c.711_714delAATG;c.708-1G>A;c.708-2A>C;c.707+2T>C;c.707+1G>A;c.682A>G;c.664A>G;c.603-1G>A;c.603-2A>G;c.602+1G>A;c.468delT;c.448+2T>C;c.391-1G>C;c.390+1delG;c.383delC;c.370C>T;c.353delG;c.340C>T;c.282-2A>T;c.156dupC;c.107C>T;c.85G>T;c.53-1G>A;c.53-2A>G;c.11G>A;c.4_7delACTG |
| PLA2G6 | Distrofia neuroaxonal infantil tipo 1 | Autosómica recesiva | NM_003560.2 | c.2370_2371delTG;c.2370T>G;c.2277-2A>C;c.2246G>C;c.2239C>T;c.2233C>T;c.2222G>A;c.2221C>T;c.2215G>C;c.2129G>A;c.2098C>T;c.2070_2072delTGT;c.1979C>G;c.1978C>T;c.1911delC;c.1904G>A;c.1903C>T;c.1894C>T;c.1799G>A;c.1754C>T;c.1743-1G>C;c.1674delG;c.1634A>C;c.1634A>G;c.1613G>A;c.1612C>T;c.1592-2A>C;c.1547_1548dupCG;c.1509delC;c.1442T>A;c.1427+1G>A;c.1354C>T;c.1351delC;c.1349-2A>G;c.1117G>A;c.1019_1025delGGGCCAA;c.991G>T;c.945_947dupCGC;c.929T>A;c.755delA;c.673C>T;c.517C>T;c.386T>C;c.298C>T;c.217C>T;c.208C>T;c.109C>T;c.3G>T |
| PLOD1 | Síndrome de Ehlers-Danlos tipo cifoscoliótico 1 | Autosómica recesiva | NM_001316320.1 | c.307C>T;c.468delG;c.543delA;c.607+1G>A;c.720+1G>A;c.1096C>T;c.1120C>T;c.1238+1G>A;c.1611+2T>C;c.1612-2A>G;c.1674C>G;c.1703G>A;c.1792-2delA;c.1792-2A>C;c.1792-2A>G;c.1977G>C;c.2044-2A>G;c.2149C>T;c.2173G>A |
| PMM2 | Trastorno congénito de la glicosilación tipo 1A | Autosómica recesiva | NM_000303.2 | c.1A>G;c.24delC;c.26G>A;c.53C>G;c.67-2A>T;c.95_96delTAinsGC;c.95T>G;c.97C>T;c.104T>A;c.109C>T;c.131T>C;c.157C>T;c.178+2T>G;c.179-1G>T;c.189delA;c.190delT;c.193G>T;c.205C>T;c.255+1G>A;c.255+2T>C;c.256-2A>G;c.256-1G>C;c.310C>G;c.323C>T;c.324delG;c.338C>T;c.345dupG;c.347+1G>A;c.348-2A>C;c.348-1G>C;c.349G>C;c.357C>A;c.359T>C;c.367C>T;c.368G>A;c.385G>A;c.392delC;c.395T>C;c.414delA;c.415G>A;c.422G>A;c.430T>C;c.442G>A;c.451_454delGAAA;c.454_455delAA;c.458T>C;c.470T>C;c.484C>T;c.511dupA;c.524-2A>G;c.560G>A;c.563A>G;c.580C>T;c.620T>C;c.623G>C;c.639+1G>A;c.647A>T;c.652C>G;c.653A>T;c.669C>G;c.677C>G;c.691G>A;c.710C>G;c.710C>T;c.722G>C |
| PNPO | Deficiencia de piridox(am)ina 5'-fosfato oxidasa | Autosómica recesiva | NM_018129.3 | c.98A>T;c.264-2A>G;c.364-1G>A;c.399G>A;c.448_451delCCTG;c.471C>A;c.481C>T;c.520C>T;c.673C>T;c.674G>A;c.674G>T;c.685C>T;c.784T>C |
| POLG | Enfermedades asociadas al gen POLG | Autosómica recesiva | NM_001126131.1 | c.3644-1G>A;c.3643+2T>C;c.3630dupC;c.3609_3612dupAACT;c.3527C>A;c.3523C>T;c.3488T>G;c.3483-2A>G;c.3470A>G;c.3409dupG;c.3406G>A;c.3286C>T;c.3240_3242dupCCG;c.3218C>T;c.3151G>C;c.3139C>T;c.3104+2T>A;c.3057G>A;c.2982-1G>C;c.2897T>G;c.2890C>T;c.2870C>T;c.2869G>C;c.2869G>T;c.2864A>G;c.2800_2801delAA;c.2794C>T;c.2740A>C;c.2617G>T;c.2605C>T;c.2591A>G;c.2584G>A;c.2558G>A;c.2557C>T;c.2554C>T;c.2542G>A;c.2420G>A;c.2395delT;c.2246T>C;c.2243G>C;c.2209G>C;c.2125C>T;c.1943C>G;c.1880G>A;c.1879C>T;c.1789C>T;c.1763G>A;c.1760C>T;c.1754G>A;c.1716G>A;c.1646delT;c.1437C>G;c.1433+1G>A;c.1399G>A;c.1270_1271delCT;c.1120C>T;c.1073delA;c.1024-1G>C;c.926G>A;c.925C>T;c.922C>T;c.911T>G;c.823C>T;c.752C>T;c.695G>A;c.679C>T;c.409C>T;c.380_386delTGCCGCC;c.264C>G;c.202C>T;c.160C>T |
| POMGNT1 | Distrofia muscular-distroglicanopatía congénita tipo 3A (síndrome de Walker-Warburg); Tipo 3B; Tipo 3C (distrofia muscular de cinturas autosómica recesiva tipo 15 [LGMDR15]) | Autosómica recesiva | NM_001243766.1;NM_001290129.1 | c.1902delT;c.1879delG;c.1870-1G>C;c.1829+1G>A;c.1829+1G>C;c.1829+1G>T;c.1829C>G;c.1810delG;c.1864delC;c.1852A>T;c.1832delT;c.1814G>A;c.1814G>C;c.1786-1G>A;c.1786-2A>G;c.1785+2T>G;c.1769G>A;c.1741_1745delATGGA;c.1738C>T;c.1719delC;c.1695_1698delTTTC;c.1694_1695delCT;c.1649+2T>G;c.1649G>A;c.1605-1G>C;c.1604+2T>C;c.1604+1G>A;c.1562delA;c.1545delC;c.1540-2A>G;c.1538_1539+2delACGT;c.1539+1G>A;c.1539+1G>T;c.1505G>C;c.1490G>A;c.1478C>G;c.1469G>A;c.1425G>A;c.1413+1G>A;c.1413+1G>C;c.1413+1G>T;c.1411A>T;c.1350_1354delCTGGG;c.1342G>C;c.1324C>T;c.1319T>G;c.1285-2A>G;c.1274G>C;c.1212-1G>C;c.1152+2T>C;c.1113delC;c.1104_1105delGT;c.1011dupT;c.987delT;c.982dupG;c.932G>A;c.931C>T;c.880-1G>A;c.880-2A>G;c.879+2T>C;c.879+1G>C;c.875delA;c.794G>A;c.653-2A>C;c.652+1G>A;c.643C>T;c.636C>T;c.593delG;c.594C>G;c.478delA;c.458C>G;c.447delT;c.354+1G>A;c.351delC;c.314C>G;c.236-1G>T;c.233_234delAT;c.187C>T;c.185_186insA;c.121-2A>G;c.92dupA;c.25dupC |
| POMT1 | Distrofia muscular-distroglicanopatía congénita tipo 1A (síndrome de Walker-Warburg); Tipo 1B; Tipo 1C (distrofia muscular de cinturas autosómica recesiva tipo 11 [LGMD R11]) | Autosómica recesiva | NM_007171.3 | c.132A>C;c.193G>A;c.226G>A;c.428-2A>G;c.430A>G;c.558G>A;c.598G>C;c.605+1G>C;c.765+1G>A;c.793C>T;c.831C>G;c.907C>T;c.1053-2A>C;c.1056T>A;c.1081C>T;c.1153C>T;c.1241C>T;c.1242-2A>G;c.1261dupC;c.1261_1262delCT;c.1276C>T;c.1280_1281delAGinsTC;c.1338+2T>C;c.1427T>G;c.1540C>T;c.1544dupA;c.1545C>G;c.1723delC;c.1746G>C;c.1770G>C;c.1858C>T;c.1864C>T;c.1958C>T;c.2005G>A;c.2070-1G>C;c.2110dupG;c.2163C>A;c.2167dupG;c.2179_2180delTC |
| POMT2 | Distrofia muscular-distroglicanopatía congénita tipo 2A (síndrome de Walker-Warburg); Tipo 2B; Tipo 2C (distrofía muscular de cinturas autosómica recesiva tipo 14 [LGMD R14]) | Autosómica recesiva | NM_013382.5 | c.2243G>C;c.2177G>A;c.1997A>G;c.1941G>A;c.1912C>T;c.1762C>T;c.1726-2A>G;c.1658dupA;c.1608_1609delCA;c.1603delC;c.1484+1G>T;c.1445G>T;c.1417C>T;c.1261delC;c.1123_1124dupAC;c.1117G>T;c.1057G>A;c.1045_1052delCGGATGGCinsG;c.1006+5G>A;c.1006+1G>A;c.958C>T;c.924-2A>C;c.924-2A>G;c.881A>G;c.737G>A;c.678delG;c.639C>A;c.551C>T;c.462G>A;c.431T>G;c.248+2T>C;c.248+1G>C |
| POU1F1 | Déficit combinado de hormonas hipofisarias tipo 1 | Autosómica recesiva* | NM_001122757.2 | c.853dupA;c.825delA;c.826G>T;c.793C>T;c.766G>A;c.743+1G>T;c.716_720delGGAAA;c.655T>C;c.615C>G;c.593G>A;c.592C>T;c.550G>C;c.511A>T;c.506G>A;c.482T>G;c.469G>T;c.71C>T |
| PPT1 | Lipofuscinosis neuronal ceroidea tipo 1 | Autosómica recesiva | NM_000310.3 | c.914T>C;c.888G>A;c.886T>C;c.871C>T;c.840dupA;c.799-2A>G;c.798+2T>C;c.798+1G>T;c.776dupA;c.774dupA;c.749G>T;c.739T>C;c.727-2A>T;c.713C>T;c.707T>A;c.683T>G;c.674T>C;c.665T>C;c.656T>A;c.653dupA;c.644delA;c.628-1G>T;c.627+1G>T;c.566C>G;c.560A>G;c.558G>A;c.550G>A;c.544C>T;c.541G>A;c.541G>T;c.538dupC;c.536+2T>C;c.536+1G>A;c.532delG;c.529C>G;c.529C>T;c.490C>T;c.455delG;c.456C>A;c.455G>A;c.451C>T;c.433+1G>A;c.424C>T;c.398delT;c.364A>T;c.363-2A>G;c.362+1G>A;c.327C>A;c.325T>G;c.322G>C;c.310A>T;c.294_297dupACTT;c.281_282delCA;c.236A>G;c.234+1G>A;c.223A>C;c.184delA;c.175delG;c.169dupA;c.163A>T;c.134G>A;c.133T>C;c.125G>A;c.125-2A>G;c.124+2T>A;c.124+1G>A;c.114delG;c.114G>A;c.114G>T;c.29T>A;c.3G>A |
| PRF1 | Linfohistiocitosis hemofagocítica familiar tipo 2 | Autosómica recesiva | NM_001083116.1 | c.1385C>A;c.1286G>A;c.1246C>T;c.1122G>A;c.1120T>G;c.1090_1091delCT;c.1034C>T;c.836G>A;c.673C>T;c.666C>A;c.548T>G;c.207delC;c.190C>T;c.50delT |
| PROP1 | Déficit combinado de hormonas hipofisarias tipo 2 | Autosómica recesiva | NM_006261.4 | c.582G>A;c.469dupT;c.359G>A;c.358C>T;c.349T>A;c.343-2A>T;c.342+1G>A;c.340C>T;c.334C>T;c.310delC;c.301_302delAG;c.295C>T;c.288_289delCT;c.274C>T;c.263T>C;c.247C>T;c.218G>A;c.217C>T;c.197dupC;c.191dupG;c.157delA;c.150_151delAG;c.150delA;c.112_124delTCGAGTGCTCCAC;c.110-2A>G;c.4delG;c.2T>C |
| PSAP | Déficit combinado de saposina | Autosómica recesiva | NM_001042465.2;NM_002778.3 | c.1297C>T;c.1154G>T;c.1153T>G;c.1055T>C;c.722G>C;c.650C>T;c.643A>C;c.607C>T;c.1A>T |
| PTS | Hiperfenilalaninemia por deficiencia de BH4 tipo A | Autosómica recesiva | NM_000317.2 | c.73C>G;c.74G>A;c.83+1G>A;c.84-3C>G;c.118_121delTTTG;c.155A>G;c.164-2A>G;c.186+1G>T;c.200C>T;c.227_228delTC;c.244-1G>T;c.286G>A;c.297C>A;c.314+1G>C;c.315-2A>G;c.315-1G>C;c.347A>G;c.361_374delGTTCTTCCTGTAGG;c.393delA |
| PYGM | Enfermedad de McArdle | Autosómica recesiva | NM_005609.3 | c.2392T>C;c.2380-1G>A;c.2352C>A;c.2312G>A;c.2262delA;c.2231_2244delAGCAGCTGAGCAGT;c.2178-1G>A;c.2136dupT;c.2128_2130delTTC;c.1970-1G>A;c.1970-2A>T;c.1969+1G>T;c.1963G>A;c.1948C>T;c.1827+1G>C;c.1827G>A;c.1797delT;c.1768+2T>G;c.1768+1G>A;c.1725delA;c.1726C>T;c.1722T>G;c.1717G>T;c.1680delC;c.1628A>C;c.1621G>T;c.1527_1530delGGAGinsTGA;c.1466dupC;c.1466C>G;c.1366G>A;c.1239+1G>A;c.1093-1G>T;c.1092+1G>A;c.808C>T;c.660+1G>A;c.613G>A;c.528+2T>G;c.501dupT;c.445_448delGCAA;c.425-2A>G;c.425-26A>G;c.407delG;c.393delG;c.370G>T;c.280C>T;c.262_263delTT;c.251_261delACTACCTGTCT;c.255C>A;c.253delT;c.252C>G;c.148C>T;c.78_79delTG;c.13_14delCT;c.1A>C;c.1A>G |
| QDPR | Hiperfenilalaninemia por deficiencia de BH4 tipo C | Autosómica recesiva | NM_000320.2 | c.472C>T;c.449A>G;c.344C>T;c.322T>G;c.270G>A;c.106T>C;c.68G>A;c.44T>C |
| RAB23 | Síndrome de Carpenter | Autosómica recesiva | NM_001278666.1 | c.481G>C;c.434T>A;c.407dupC;c.82C>T |
| RAG1 | Síndrome de Omenn; Inmunodeficiencia combinada grave célula B negativa | Autosómica recesiva | NM_000448.2 | c.256_257delAA;c.322C>T;c.335G>A;c.555delG;c.775delA;c.940C>T;c.983G>A;c.999T>A;c.1186C>T;c.1187G>A;c.1286A>G;c.1566G>T;c.1681C>T;c.1682G>A;c.2005G>A;c.2164G>A;c.2210G>A;c.2320G>T;c.2326C>T;c.2333G>A;c.2689C>T;c.2814T>G;c.2923C>T;c.2974A>G |
| RAG2 | Síndrome de Omenn; Inmunodeficiencia combinada grave célula B negativa | Autosómica recesiva | NM_000536.3 | c.1403_1406delATCT;c.1352G>C;c.854T>G;c.601C>T;c.547T>C;c.539C>A;c.518A>G;c.374_375delCA;c.283G>A;c.230C>A;c.218G>A;c.217C>T;c.193G>T;c.123C>G;c.115A>G;c.104G>T |
| RAPSN | Secuencia deformante de aquinesia fetal; Síndrome miasténico congénito asociado con deficiencia de AChR | Autosómica recesiva | NM_005055.4 | c.1177_1178delAA;c.1083_1084dupCT;c.853C>T;c.848T>C;c.807C>A;c.737C>T;c.566C>T;c.549_553dupGTTCT;c.490C>T;c.484G>A;c.416T>C;c.370C>T;c.264C>A;c.133G>A;c.41T>C |
| RDH12 | Amaurosis congénita de Leber tipo 13 | Autosómica recesiva | NM_152443.2 | c.63_66delCATC;c.146C>T;c.152T>A;c.184C>T;c.210dupC;c.250C>T;c.295C>A;c.377C>T;c.379G>T;c.451C>A;c.451C>G;c.464C>T;c.523T>C;c.565C>T;c.658+1G>A;c.677A>G;c.688C>G;c.778delG;c.806_810delCCCTG |
| RPE65 | Amaurosis congénita de Leber tipo 2 | Autosómica recesiva | NM_000329.2 | c.1543C>T;c.1366delG;c.1355T>G;c.1338+1G>A;c.1292A>G;c.1102T>C;c.1087C>A;c.1067delA;c.1022T>C;c.907A>T;c.893delA;c.700C>T;c.514_515delGT;c.370C>T;c.304G>T;c.271C>T;c.149_150delTT;c.130C>T;c.95-2A>T;c.11+5G>A |
| RPGRIP1L | Síndrome de Joubert tipo 7; Síndrome de Meckel tipo 5; Síndrome de COACH | Autosómica recesiva | NM_015272.4 | c.3701+1G>T;c.3634_3637delGAAA;c.3529C>T;c.3299_3300dupTC;c.3187G>T;c.2794_2795delTT;c.2614C>T;c.2413C>T;c.2305-1G>A;c.2299C>T;c.2269delA;c.2200C>T;c.2083G>C;c.2050C>T;c.1975T>C;c.1843A>C;c.1829A>C;c.1721delA;c.1709dupA;c.1700-1G>A;c.1489G>T;c.1421delA;c.1326_1329delAAAA;c.1329dupA;c.1243+1G>A;c.1158dupA;c.1132delT;c.1120delC;c.1033C>T;c.776+1G>A;c.757C>T;c.723_726delTGAA;c.697A>T;c.394A>T;c.230+1G>A;c.118C>T |
| RTEL1 | Disqueratosis congénita autosómica recesiva tipo 5 | Autosómica recesiva* | NM_001283009.1;NM_032957.4 | c.49C>T;c.102+2T>C;c.388_389delTC;c.442C>T;c.458_459delAA;c.525C>A;c.535G>T;c.602delG;c.630C>A;c.649C>T;c.751G>A;c.897delC;c.958+2dupT;c.1037+1G>T;c.1135+1G>A;c.1451C>T;c.1476G>T;c.1482-1G>A;c.1546G>C;c.1596-1G>A;c.1618T>G;c.1648C>T;c.1773G>T;c.1861G>A;c.2005C>T;c.2021dupG;c.2097C>G;c.2216G>T;c.2219_2227delATGTCATCC;c.2233G>A;c.2260C>T;c.2265+2T>A;c.2413+1G>C;c.2414-2A>G;c.2587_2590delTCTG;c.2653-2A>C;c.2851+1G>T;c.2869C>T;c.2881A>T;c.2920C>T;c.2956C>T;c.3104dupC;c.3110-2A>C;c.3110-2A>T;c.3334delC;c.3344-2A>G;c.3370delC;c.3371A>C;c.3376C>T;c.3559C>T;c.3791G>A |
| SACS | Ataxia espástica tipo Charlevoix-Saguenay | Autosómica recesiva | NM_014363.5 | c.13237C>T;c.13132C>T;c.12973C>T;c.12851_12854delAGAG;c.12232C>T;c.12160C>T;c.12028C>T;c.11707C>T;c.11374C>T;c.11265_11266delAT;c.11185C>T;c.10906C>T;c.10466_10467delCT;c.9508C>T;c.8844delT;c.8793delA;c.8393C>A;c.7504C>T;c.7276C>T;c.7162_7163delAC;c.6563T>A;c.6409C>T;c.6355C>T;c.6172delT;c.5764_5767delTTAC;c.5719C>T;c.5618_5619delAT;c.5151dupA;c.5125C>T;c.4933C>T;c.4744G>A;c.4593dupA;c.4033dupC;c.3328dupA;c.3198T>A;c.2903_2906delACAG;c.2439_2440delAT;c.2224C>T;c.2186-2A>G;c.2182C>T;c.2076delC;c.1919_1920delAC;c.1706G>A;c.1681delG;c.1672C>T;c.1607C>T;c.1276_1277dupTT;c.1228_1229delTT;c.1189_1190delAG;c.1137dupA;c.1085delA;c.994A>T;c.961C>T;c.832C>T;c.814C>T;c.712A>T;c.605-1G>A;c.604+1G>A;c.517C>T;c.468_469insG;c.262C>T;c.29delC |
| SBDS | Síndrome de Shwachman-Diamond | Autosómica recesiva | NM_016038.2 | c.652C>T;c.624+1G>C;c.523C>T;c.377G>C;c.297_300delAAGA;c.258+2T>C;c.258+1G>C;c.183_184delTAinsCT;c.184A>T;c.120delG;c.95A>G;c.41A>G;c.13delA |
| SGCA | Distrofia muscular de cinturas autosómica recesiva tipo 3 (LGMD R3) | Autosómica recesiva | NM_000023.3 | c.-1_9delCATGGCTGAG;c.100C>T;c.101G>A;c.158-2A>G;c.161delT;c.183dupC;c.220delC;c.229C>T;c.292C>T;c.293G>A;c.313_319delGTCACAG;c.313-2A>G;c.322_325dupTACA;c.348_352dupTCGGC;c.371T>C;c.391delC;c.403C>T;c.409G>A;c.464delG;c.480_481delCT;c.488dupG;c.489delA;c.511C>T;c.518T>C;c.530delC;c.559delC;c.574C>T;c.580G>T;c.585-2A>C;c.585-2A>T;c.585-1G>A;c.585-1G>C;c.614C>A;c.676C>T;c.739G>A;c.747+1G>A;c.748-2A>T;c.754_755delAA;c.755delA;c.770delC;c.846_847delAGinsT;c.850C>T;c.892delC;c.903_904dupCC;c.949G>T;c.981_982dupCG;c.1054G>T |
| SGCB | Distrofia muscular de cinturas autosómica recesiva tipo 4 (LGMD R4) | Autosómica recesiva | NM_000232.4 | c.699_702delCATT;c.622-2A>G;c.621+1G>T;c.595_598delAATG;c.572delT;c.551_552delAT;c.552T>G;c.452C>G;c.391C>T;c.341C>T;c.334C>T;c.323T>G;c.299T>A;c.272G>C;c.272G>T;c.243+2T>G;c.243+1G>T;c.216_219delGTTT;c.85A>T;c.33+1G>A;c.31C>T;c.28G>T;c.1_2delAT |
| SGCG | Distrofia muscular de cinturas autosómica recesiva tipo 5 (LGMD R5) | Autosómica recesiva | NM_000231.2 | c.89delG;c.133delA;c.186G>A;c.195+4_195+7delAGTA;c.195+1G>C;c.298-2A>C;c.385+2T>A;c.385+2T>G;c.386-2A>G;c.386-1G>A;c.452_458delTTACTGT;c.505+1G>A;c.525delT;c.578+1G>C;c.579-2A>G;c.581T>C;c.599delG;c.702+1G>A;c.702+1G>C;c.768delC;c.787G>A;c.800_801delGT;c.848G>A |
| SGSH | Mucopolisacaridosis tipo 3A (Síndrome Sanfilippo A) | Autosómica recesiva | NM_000199.3 | c.1429delG;c.1429G>A;c.1380delT;c.1339G>A;c.1298G>A;c.1272_1282delCAAGGACCTCC;c.1167C>A;c.1139A>G;c.1135delG;c.1129C>T;c.1105G>A;c.1080delC;c.1027dupC;c.961A>G;c.892T>C;c.877C>T;c.763delC;c.757delG;c.734G>A;c.703G>A;c.697C>T;c.664-1G>T;c.629G>A;c.617G>C;c.582T>A;c.571G>A;c.466A>T;c.449G>A;c.383C>T;c.376dupG;c.364G>A;c.356-1G>A;c.356-2A>G;c.337_345delCAAGCTGGTinsGCACAGGTGAG;c.320delT;c.268G>A;c.235A>C;c.220C>T;c.216delC;c.197C>G;c.130G>A;c.2T>C;c.1A>G |
| SH2D1A | Síndrome linfoproliferativo ligado al X tipo 1 | Ligada al X | NM_002351.4 | c.3G>T;c.95G>C;c.163C>T;c.164G>T;c.172C>T;c.192G>A;c.203C>T;c.302C>T;c.385T>A |
| SLC12A3 | Síndrome de Gitelman | Autosómica recesiva | NM_000339.2 | c.179C>T;c.247C>T;c.283delC;c.460A>T;c.506-1G>A;c.625C>T;c.815T>C;c.1046C>T;c.1126delC;c.1180+1G>T;c.1261T>C;c.1338delC;c.1743delG;c.1763C>T;c.1919A>G;c.1924C>G;c.1964G>T;c.2089_2095delACCAAGT;c.2532G>A;c.2560delC;c.2883+1G>T |
| SLC12A6 | Agenesia de cuerpo calloso con neuropatía | Autosómica recesiva | NM_133647.1 | c.3400C>T;c.3361+2T>G;c.3346G>T;c.3337C>T;c.3304_3308delAAGCT;c.3227+1G>A;c.3220dupA;c.3031C>T;c.2995_3004delCAGATGCTCC;c.2950_2959delTCAGCATATA;c.2809C>T;c.2803-1G>C;c.2803-1G>T;c.2633-1G>A;c.2632+1G>A;c.2437-2A>G;c.2436+1delG;c.2423dupT;c.2416G>T;c.2162+1G>A;c.2043-2A>G;c.2032dupT;c.2023C>T;c.1650-1G>C;c.1584_1585delCTinsG;c.1478_1485delTTCCCTCT;c.1118+1G>A;c.963C>A;c.901delA;c.745+2T>A;c.655C>T;c.630G>A;c.619C>T;c.571_572dupGT;c.550dupC;c.543+2T>G;c.379G>T;c.366T>G;c.316+1G>A;c.298G>T;c.281_294delAGAACTCCATCACA |
| SLC17A5 | Enfermedad de Salla | Autosómica recesiva | NM_012434.4 | c.1350+1G>A;c.1259+2T>C;c.1259+1G>A;c.1259+1G>T;c.1226G>A;c.1138_1139delGT;c.1127delC;c.1121delG;c.1016G>A;c.1007_1008delTA;c.1001C>G;c.983G>A;c.979-2A>G;c.918T>G;c.909G>A;c.820-2A>C;c.819+1G>A;c.802_816delTCATCATTAAGAAAT;c.719G>A;c.700+2T>C;c.693delC;c.614-1G>A;c.613+2T>A;c.548A>G;c.533delC;c.526-2A>G;c.507delA;c.423delT;c.409delA;c.406A>G;c.384T>A;c.349dupT;c.309G>A;c.292-1G>C;c.292-2A>C;c.215_216delCA;c.215delC;c.204delA;c.115C>T;c.95-1G>C;c.43G>T |
| SLC22A5 | Deficiencia sistémica primaria de carnitina | Autosómica recesiva | NM_001308122.1 | c.3G>T;c.12C>G;c.42G>A;c.43G>T;c.51C>G;c.67_69delTTC;c.77G>A;c.95A>G;c.136C>T;c.160del0insGACGCCG;c.248G>T;c.254_264dupGGCTCGCCACC;c.251del0insACCGGCTCGCC;c.338G>A;c.364G>T;c.393+1G>A;c.466-16T>A;c.466-2A>C;c.466-1G>T;c.467G>A;c.468G>A;c.496G>T;c.500C>T;c.530_531delTG;c.563C>G;c.570-1G>C;c.577C>T;c.578G>A;c.601A>G;c.704A>G;c.724+1G>A;c.725-2A>C;c.731A>T;c.752G>A;c.767C>T;c.832C>T;c.878delT;c.897-1G>C;c.916delC;c.914C>T;c.916C>T;c.917G>A;c.937C>T;c.1024-2A>G;c.1123T>C;c.1124+1G>T;c.1124+5G>A;c.1125-3_1125-2delCAinsTC;c.1125-2A>C;c.1148del0insTTGGGC;c.1244G>A;c.1253_1255delTGC;c.1260T>G;c.1265C>T;c.1267C>T;c.1268G>A;c.1274dupA;c.12740>A;c.1322dupT;c.1324C>T;c.1339+1G>A;c.1376delG;c.1391C>T;c.1396_1397delGCinsAT;c.1412A>G;c.1437dupC;c.14350>C;c.1472C>G;c.1475C>G;c.1483C>A;c.1483C>T;c.1484G>A;c.1505C>T;c.1523-1G>A;c.1527dupC;c.15270>C;c.1530C>A;c.1530C>G;c.1619delC;c.1626delA;c.1628_1631dupACAC;c.1628del0insACAC;c.1659-2A>G;c.1659-1G>C |
| SLC25A13 | Citrulinemia adulta tipo 2 | Autosómica recesiva | NM_001160210.1 | c.1816C>T;c.1804G>A;c.1804G>T;c.1802dupA;c.1595G>A;c.1414_1415delCT;c.1314+1G>A;c.1234-1G>A;c.1180+1G>A;c.1081C>T;c.1066C>T;c.958C>T;c.852_855delTATG;c.775C>T;c.674C>A;c.615+5G>A;c.615+1G>C;c.550C>T;c.495delA;c.493C>T;c.468+1G>C;c.70-1G>A |
| SLC25A15 | Síndrome de Hiperornitinemia - hiperamonemia - homocitrulinuria | Autosómica recesiva | NM_014252.3 | c.22C>T;c.44C>A;c.79G>A;c.95C>G;c.110T>G;c.212T>A;c.337G>T;c.446delG;c.535C>T;c.538G>A;c.562_564delTTC;c.564C>G;c.569G>A;c.658G>A;c.815C>T;c.818T>A;c.823C>T;c.824G>A |
| SLC26A2 | Acondrogénesis tipo 1B (displasia diastrofica) | Autosómica recesiva | NM_000112.3 | c.-26+2T>C;c.47C>G;c.55G>T;c.63_64delCA;c.185C>G;c.188delA;c.207delT;c.239_243dupGCAGT;c.255delC;c.325_326delTT;c.331G>T;c.387T>G;c.391delC;c.398C>T;c.403C>A;c.438delT;c.451delT;c.485_486delTG;c.496G>A;c.499delG;c.532C>T;c.541C>T;c.578_581delCCTT;c.611T>G;c.642_643delAA;c.699+2T>C;c.700-2A>G;c.700-1G>C;c.705_711delGATGGGC;c.833delC;c.835C>T;c.906_907delCT;c.1020_1022delTGT;c.1157C>T;c.1242_1245delAAAC;c.1273A>G;c.1361A>C;c.1394delT;c.1451G>A;c.1535C>A;c.1724delA;c.1878delG;c.1957T>A;c.1976delT;c.1983delA;c.2033G>T |
| SLC26A4 | Sordera autosómica recesiva tipo 4; Síndrome de Pendred | Autosómica recesiva | NM_000441.1 | c.-3-2A>G;c.2T>C;c.3G>C;c.55delA;c.68C>A;c.84C>A;c.85G>C;c.85G>T;c.142G>T;c.164+1delG;c.164+2T>A;c.164+2T>C;c.165-2A>G;c.170C>G;c.235C>T;c.249G>A;c.269C>T;c.279delT;c.281C>T;c.294_298delCACGC;c.296C>G;c.304+2T>C;c.349delC;c.349C>T;c.365dupT;c.382_384delTTTinsAA;c.397_398delTCinsA;c.397T>A;c.412G>C;c.412G>T;c.416-1G>A;c.440T>C;c.454delG;c.554G>C;c.563T>C;c.578C>T;c.589G>A;c.600+2T>A;c.601-1G>A;c.619C>T;c.626G>T;c.706C>G;c.707T>C;c.716T>A;c.737delA;c.765+2T>C;c.845G>A;c.858_865delGGAATTAA;c.890delC;c.916dupG;c.918+1G>T;c.918+2T>C;c.919-2A>G;c.946G>T;c.961A>T;c.1001G>T;c.1001+1G>A;c.1001+1G>T;c.1003T>C;c.1034T>A;c.1079C>T;c.1105A>G;c.1105A>T;c.1115C>T;c.1147delC;c.1149+1delG;c.1151A>G;c.1160C>T;c.1173C>A;c.1174A>T;c.1198delT;c.1222delT;c.1226G>A;c.1226G>C;c.1229C>T;c.1238delA;c.1238A>G;c.1246A>C;c.1262A>C;c.1263+1G>A;c.1263+1G>T;c.1264-1G>C;c.1284_1286delTGC;c.1334T>G;c.1336C>T;c.1341+1G>C;c.1342-2_1343dupAGTC;c.1342-2A>C;c.1342-1G>T;c.1415G>A;c.1437+2T>G;c.1438-2A>G;c.1489G>A;c.1520delT;c.1522A>G;c.1539_1544+6delTCAGTTGTGAGT;c.1541A>G;c.1544+1G>A;c.1547dupC;c.1548_1549insC;c.1554G>A;c.1579A>C;c.1586T>G;c.1588T>C;c.1614+1G>A;c.1614+1G>C;c.1651dupT;c.1667A>G;c.1694G>A;c.1707+2T>C;c.1707+5G>A;c.1741_1742delAG;c.1768A>T;c.1919G>A;c.1920G>A;c.1949T>A;c.1966delC;c.1975G>C;c.2000T>G;c.2015G>A;c.2027T>A;c.2044G>T;c.2048T>C;c.2067delT;c.2086C>T;c.2089+1G>A;c.2089+2T>A;c.2090-1G>A;c.2106_2110dupGCTGG;c.2118C>A;c.2127delT;c.2153T>C;c.2162C>T;c.2168A>G;c.2171A>G;c.2177_2178dupTA;c.2188C>T;c.2206C>T;c.2215C>T;c.2224delA;c.2228T>A;c.2235+2T>C;c.2319+1G>A |
| SLC35A1 | Trastorno congénito de la glicosilación tipo 2F | Autosómica recesiva | NM_006416.4 | c.277_280delGTGCinsTG;c.303G>C |
| SLC35A3 | ?Artrogriposis, discapacidad intelectual y convulsiones | Autosómica recesiva | NM_001271685.1 | c.640C>T;c.1012A>G |
| SLC35C1 | Trastorno congénito de la glicosilación tipo 2C | Autosómica recesiva | NM_018389.4 | c.91G>T;c.290dupG;c.439C>T;c.503_505delTCT;c.923C>G |
| SLC35D1 | Displasia de Schneckenbecken | Autosómica recesiva | NM_015139.2 | c.932G>A;c.319C>T |
| SLC37A4 | Enfermedad de almacenamiento de glucógeno tipo 1B | Autosómica recesiva | NM_001164278.1 | c.1309C>T;c.1190-2_1190-1delAG;c.1190-1G>A;c.1189+1G>C;c.1129G>T;c.1108_1109delCT;c.1082G>A;c.1081G>T;c.1051-3_1054delCAGCTCT;c.923_934dupTGGCTGGCATGA;c.845_848delACCT;c.833T>A;c.742C>T;c.706_708delGTG;c.652C>T;c.595delC;c.572C>T;c.382-1delG;c.370delG;c.352T>C;c.344_345dupGG;c.287G>A;c.276dupA;c.146delT;c.110C>A;c.83G>A;c.74_77delACTT;c.70T>C;c.1A>G |
| SLC45A2 | Albinismo oculocutáneo tipo 4 | Autosómica recesiva | NM_016180.4 | c.1457C>T;c.1273delC;c.1152T>G;c.1121delT;c.986delC;c.957C>A;c.856C>T;c.834C>G;c.606G>C;c.563-1G>A;c.469G>A;c.264delC;c.210C>A |
| SLC4A11 | Distrofia endotelial hereditaria congénita tipo 2 | Autosómica recesiva | NM_001174090.1 | c.2687G>A;c.2686C>T;c.2647A>G;c.2609T>C;c.2345G>A;c.2342C>T;c.2314_2321dupTATGACAC;c.2305G>A;c.2207G>A;c.1894C>T;c.1547C>T;c.1544G>A;c.1472G>A;c.1276G>A;c.1119_1120insA;c.718T>C;c.554_561delGCTTCGCC;c.554_562delGCTTCGCCAinsC;c.434_437delAGAA |
| SLC6A8 | Síndrome de déficit de creatina cerebral tipo 1 | Ligada al X | NM_005629.3 | c.263-1G>A;c.321_323delCTT;c.395G>T;c.570_571delTG;c.974_975delCA;c.1011C>G;c.1016+2T>C;c.1141G>C;c.1222_1224delTTC;c.1254+1G>A;c.1255-2A>G;c.1411C>T;c.1455G>A;c.1540C>T;c.1659C>G;c.1668G>A |
| SLC7A7 | Intolerancia a la proteína lisinúrica | Autosómica recesiva | NM_001126105.2 | c.1460delG;c.1417C>T;c.1402C>T;c.1387delG;c.1381_1384dupATCA;c.1371C>A;c.1344delC;c.1262delC;c.1228C>T;c.1185_1188delTTCT;c.1147_1151dupAACTA;c.1122C>A;c.1005_1008delCTTT;c.998+1G>T;c.895-2A>G;c.894+1G>T;c.820dupT;c.726G>A;c.625+1G>A;c.625+1G>C;c.622C>T;c.545dupT;c.499+1G>A;c.254_255delTT;c.215_218delCTCT;c.1A>C |
| SMN1 | Atrofia muscular espinal | Autosómica recesiva | - | Exon 7-8 deletion;Exon 7 deletion |
| SMPD1 | Enfermedad de Niemann-Pick tipo A; Enfermedad de Niemann-Pick tipo B | Autosómica recesiva | NM_000543.4;NM_001318087.1 | c.7delC;c.61C>T;c.84delC;c.96G>A;c.103_107delCTGGT;c.106delG;c.151_154delGACT;c.193delT;c.318+2T>A;c.318+2T>C;c.354delC;c.416T>C;c.419_420delTT;c.475T>C;c.509G>A;c.518dupT;c.521_522insT;c.528G>A;c.538_539delTT;c.557C>T;c.558_559insT;c.564delC;c.564dupC;c.565_566insC;c.573delT;c.581delC;c.581dupC;c.649G>T;c.688C>T;c.730G>A;c.730G>T;c.740delG;c.739G>A;c.742G>A;c.757G>C;c.778G>T;c.788T>A;c.795delG;c.842_849dupTCCCCGCA;c.880C>A;c.911T>C;c.952G>A;c.996delC;c.994_995delCCinsG;c.1092-1G>C;c.1101dupG;c.1111_1112delCT;c.1117C>T;c.1145_1146delTC;c.1152G>A;c.1154A>G;c.1177T>G;c.1264-1G>A;c.1264-1G>T;c.1267C>T;c.1276G>A;c.1299_1302delTCTG;c.1299T>G;c.1314C>A;c.1327C>T;c.1341-1G>A;c.1341-1G>T;c.1406A>C;c.1420_1421delCT;c.1426C>T;c.1430C>T;c.1491_1503delCCGTGTGTACCAA;c.1492C>T;c.1493G>A;c.1493G>T;c.1518T>A;c.1624C>T;c.1630delA;c.1783_1784delCT;c.1785_1786delTT;c.1805G>A;c.1817delC;c.1829_1831delGCC |
| STAR | Hiperplasia adrenal lipoide | Autosómica recesiva | NM_000349.2 | c.772C>T;c.749G>A;c.745-1G>C;c.714delA;c.695delG;c.653C>T;c.651-1G>C;c.650G>C;c.629_630delCT;c.577C>T;c.562C>T;c.559G>A;c.545G>A;c.545G>T;c.544C>T;c.505G>A;c.298_299delAG;c.229C>T;c.179-2A>G;c.178+1G>C;c.135delT;c.64+2T>C;c.64+1G>T |
| SUMF1 | Deficiencia múltiple de sulfatasas | Autosómica recesiva | NM_182760.3 | c.1076C>A;c.1046G>A;c.1045C>T;c.1042G>C;c.1033C>T;c.1006T>C;c.979C>T;c.788G>T;c.785A>G;c.739G>C;c.661delG;c.653G>A;c.542T>G;c.463T>C;c.337G>A;c.2T>G;c.1A>G |
| TCIRG1 | Osteopetrosis autosómica recesiva tipo 1 | Autosómica recesiva | NM_006019.3 | c.-5+1G>T;c.115_116delGA;c.117+1G>A;c.205C>T;c.242delC;c.292C>T;c.346C>T;c.480dupG;c.503+1G>A;c.557_570delTCTGGAGGGCCTGC;c.630+1G>T;c.630+2T>C;c.713+1G>C;c.713+1G>T;c.807+1G>T;c.922delC;c.979C>T;c.1024G>T;c.1118delG;c.1213G>A;c.1213G>C;c.1276C>T;c.1305+2T>C;c.1306-1G>A;c.1331G>T;c.1385dupA;c.1392C>A;c.1554+1G>T;c.1555-2A>C;c.1559G>A;c.1674-1G>A;c.1887+1G>C;c.1891delG;c.2008C>T;c.2236C>T;c.2236+1G>A;c.2415-2A>G |
| TFR2 | Hemocromatosis tipo 3 | Autosómica recesiva | NM_003227.3;NM_001206855.1 | c.2374G>A;c.2343G>A;c.2137-1G>A;c.2014C>T;c.1861_1872delGCCGTGGCCCAG;c.1870C>T;c.1665delC;c.1632_1633delGA;c.1473+1G>A;c.1469T>G;c.1330G>A;c.1235_1237delACA;c.1186C>T;c.949C>T;c.750C>G;c.2T>A;c.313C>T;c.88dupC |
| TGM1 | Ictiosis congénita autosómica recesiva (ICAR) tipo 1 | Autosómica recesiva | NM_000359.2 | c.2278C>T;c.2226-2A>G;c.1984C>T;c.1923_1927+2delGGCCTGT;c.1849_1850delTC;c.1744C>T;c.1649C>G;c.1417G>A;c.1363T>C;c.1331dupA;c.1313G>A;c.1304_1308delTCCAT;c.1298+2T>C;c.1223_1227delACACA;c.1226_1227delCA;c.1187G>A;c.1187G>T;c.1175G>A;c.1166G>A;c.1159+1G>A;c.1159+1G>T;c.1147G>A;c.1135G>C;c.1094A>G;c.1042C>T;c.977_978delCT;c.968G>A;c.967C>T;c.944G>A;c.944G>T;c.943C>T;c.919C>G;c.919C>T;c.910A>T;c.877-2A>G;c.876+2T>C;c.872G>A;c.866A>C;c.857G>A;c.832G>A;c.826T>A;c.802delG;c.790C>T;c.788G>A;c.758-2A>G;c.704T>A;c.679C>T;c.652G>A;c.614T>A;c.579G>A;c.566dupG;c.479C>G;c.428G>A;c.427C>G;c.427C>T;c.425G>A;c.424C>T;c.420A>G;c.398_407dupAGTATGAGTA;c.379C>T;c.377G>A;c.320-1G>T;c.316C>T;c.232C>T;c.184G>T;c.160C>T;c.159C>A;c.132G>A;c.-2-1G>A |
| TH | Síndrome de Segawa autosómico recesivo | Autosómica recesiva | NM_199292.2 | c.1493A>G;c.1481C>T;c.1375C>T;c.1269_1273delGCTGT;c.1234C>A;c.1197+1G>A;c.1196C>T;c.1090delC;c.1076G>T;c.1070+1G>A;c.1014delG;c.826A>C;c.810delG;c.789-2A>G;c.765C>G;c.737+2T>A;c.737+1G>A;c.707T>C;c.698G>A;c.694C>T;c.580+2T>C;c.580+1G>A;c.580+1G>C;c.457C>T;c.405+1G>A;c.385C>T;c.376delG;c.296delT |
| TMEM216 | Síndrome de Joubert tipo 2; Síndrome de Meckel tipo 2 | Autosómica recesiva | NM_001173991.2 | c.34+2T>C;c.35-2A>G;c.79_82delAACG;c.137-1G>A;c.164_168delACCTA;c.218G>A;c.218G>T;c.222delG;c.228delT;c.228dupT;c.230G>C;c.253C>T;c.341T>G;c.398T>G |
| TPP1 | Lipofuscinosis neuronal ceroide tipo 2 | Autosómica recesiva | NM_000391.3 | c.1611_1621delCTCTGGTCCTG;c.1552-1G>A;c.1551+1G>A;c.1551+1G>C;c.1551+1G>T;c.1525C>T;c.1497delT;c.1449delG;c.1449dupG;c.1392_1393delCA;c.1379G>A;c.1367_1368delCT;c.1340G>A;c.1266G>C;c.1259C>A;c.1146-1G>A;c.1145+1G>A;c.1098G>A;c.1094G>A;c.1093T>C;c.1076-1G>A;c.1076-2A>G;c.1076-2A>T;c.1029G>C;c.1015C>T;c.972_979delCTATGGAG;c.938_939delAT;c.887-18A>G;c.857A>G;c.851G>T;c.845G>A;c.833A>G;c.827A>T;c.819delC;c.787C>T;c.689delT;c.687+2T>G;c.640C>T;c.622C>T;c.617G>A;c.616C>T;c.609dupT;c.605C>T;c.509-1G>A;c.509-1G>C;c.509-1G>T;c.500_503dupTGGA;c.471C>A;c.381-2A>G;c.380G>A;c.379C>T;c.357dupT;c.311T>A;c.274delT;c.237C>G;c.230-1G>C;c.229G>C;c.196C>T;c.184_185delTC;c.141_144delGAGT;c.17+1G>A |
| TSEN54 | Hipoplasia pontocerebelosa tipo 2A; Hipoplasia pontocerebelosa tipo 4 | Autosómica recesiva | NM_207346.2 | c.468+2T>C;c.547C>T;c.575_576delAC;c.670_671delAA;c.736C>T;c.823delG;c.887G>A;c.919G>T;c.1027C>T;c.1039A>T;c.1117C>T;c.1138G>T;c.1156C>T;c.1172_1185delAGAGGAGCCAGCGC;c.1335delC;c.1386_1387insTA;c.1397dupC;c.1415G>A |
| TSFM | Déficit combinado de la fosforilación oxidativa tipo 3 | Autosómica recesiva | NM_001172696.1 | c.1_2delAT;c.24_25delCG;c.581delC;c.919C>T;c.997C>T;c.1007G>A |
| TTPA | Ataxia con déficit de vitamina E | Autosómica recesiva | NM_000370.3 | c.744delA;c.736G>C;c.661C>T;c.595G>T;c.575G>A;c.557C>A;c.552+2T>A;c.548T>C;c.530_531delAGinsGTAAGT;c.513_514insTT;c.487delT;c.441delA;c.421G>A;c.400C>T;c.366G>A;c.313A>T;c.205-1G>C;c.205-1G>T;c.205-2A>G;c.2T>C |
| TYR | Albinismo oculocutáneo (OCA) tipo 1A; OCA 1B | Autosómica recesiva | NM_000372.4 | c.1A>G;c.74dupT;c.116G>A;c.125A>G;c.140G>A;c.164G>A;c.229C>T;c.230G>A;c.239G>A;c.242C>T;c.265T>C;c.272G>A;c.286dupA;c.325G>A;c.338_339delCA;c.346C>T;c.446A>G;c.452T>G;c.533G>A;c.551C>G;c.572delG;c.580delA;c.613C>A;c.616G>A;c.635G>A;c.646T>A;c.649C>T;c.650G>A;c.655G>A;c.658C>T;c.661G>A;c.707G>A;c.732_733delTG;c.739T>C;c.753C>A;c.823G>T;c.832C>T;c.880G>A;c.895C>A;c.896G>A;c.902C>T;c.929dupC;c.976C>T;c.982G>A;c.1012_1013insC;c.1036G>T;c.1037-7T>A;c.1037-2A>G;c.1037-1G>A;c.1064C>T;c.1100A>G;c.1111A>G;c.1111A>T;c.1112A>C;c.1118C>A;c.1146C>A;c.1147G>A;c.1164delT;c.1177delG;c.1199G>T;c.1204C>T;c.1209G>T;c.1217C>T;c.1255G>A;c.1264C>T;c.1265G>A;c.1336G>A;c.1342G>A;c.1392dupT;c.1467dupT;c.1501dupC |
| UGT1A1 | Síndrome de Crigler-Najjar tipo 1; Síndrome de Crigler-Najjar tipo 2 | Autosómica recesiva | NM_000463.2 | c.44T>G;c.145C>T;c.222C>A;c.238_239insGTAC;c.353dupA;c.474_475insT;c.622_625dupCAGC;c.625C>T;c.674T>G;c.722_723delAG;c.840C>A;c.864+1G>C;c.877_890delTACATTAATGCTTCinsA;c.991C>T;c.1006C>T;c.1021C>T;c.1069C>T;c.1070A>G;c.1084+1G>T;c.1085-2A>G;c.1091C>T;c.1456T>G |
| UNC13D | Linfohistiocitosis hemofagocítica familiar tipo 3 | Autosómica recesiva | NM_199242.2 | c.2709+1G>A;c.2695C>T;c.2570T>G;c.2346_2349delGGAG;c.1768C>T;c.1754dupT;c.1727+1G>A;c.1472T>A;c.1389+1G>A;c.1299-1G>A;c.1208T>C;c.919C>T;c.766C>T;c.753+1G>T;c.216delC |
| USH1C | Síndrome de Usher tipo 1C; Sordera autosómica recesiva tipo 18A | Autosómica recesiva | NM_153676.3;NM_001297764.1 | c.2688_2695dupAATTCACC;c.2622_2623delCA;c.2547-1G>T;c.2546+1G>T;c.2490+2T>C;c.2490+1G>T;c.2381-2A>G;c.2326dupA;c.2281-1G>A;c.2281-2A>G;c.2280+2T>C;c.2227-1G>T;c.2226+2T>C;c.2185-2A>G;c.2167C>T;c.1163delG;c.1146dupA;c.1039C>T;c.1020-2A>C;c.877-1G>A;c.841_848delAGCCGCAG;c.819+1G>A;c.760-1G>T;c.674+2T>G;c.674+1G>A;c.672C>A;c.579+1G>C;c.496+1G>A;c.496+1G>T;c.463C>T;c.308G>A;c.248+1G>A;c.238delC;c.238dupC;c.216G>A;c.104+1G>A;c.91C>T;c.7C>T |
| USH1G | Síndrome de Usher tipo 1G | Autosómica recesiva | NM_173477.4 | c.1311delG;c.805C>T;c.649C>T;c.511G>T;c.394dupG;c.186_187delCA;c.143T>C;c.113G>A |
| USH2A | Síndrome de Usher tipo 2A | Autosómica recesiva | NM_206933.2 | c.15520-1G>A;c.15412C>T;c.15380delC;c.15371delT;c.15322delC;c.15200delT;c.15089C>A;c.15052+1G>A;c.15037_15043delACCTCTA;c.14977_14978delTT;c.14969-1G>A;c.14911C>T;c.14803C>T;c.14791+2T>A;c.14698C>T;c.14679delA;c.14582+1G>C;c.14502_14503delTC;c.14442C>A;c.14426C>T;c.14424C>A;c.14402_14403delAC;c.14350G>T;c.14344-1G>A;c.14287G>A;c.14248C>T;c.14219C>A;c.14180G>A;c.14175G>A;c.14139_14152delGGCAGTGAATTCTG;c.14131C>T;c.14031dupA;c.13898delT;c.13847G>T;c.13822C>T;c.13812-1G>A;c.13811+2T>C;c.13811+1G>A;c.13711G>T;c.13709delG;c.13700delT;c.13621C>T;c.13576C>T;c.13556delT;c.13374delA;c.13316C>T;c.13313G>A;c.13257_13263delCTCCCTT;c.13207_13208delGG;c.13172_13175delTTAG;c.13130C>A;c.13112_13115delAAAT;c.13094G>A;c.13010C>T;c.12954C>A;c.12868C>T;c.12859_12863delCCACC;c.12819T>A;c.12714T>G;c.12697_12698delTG;c.12691C>T;c.12574C>T;c.12505A>G;c.12309delC;c.12295-2A>G;c.12294+1G>C;c.12284G>A;c.12234_12235delGA;c.12232G>T;c.12152_12153insTT;c.12151G>T;c.12093C>A;c.12079C>T;c.12067-1G>C;c.12067-2A>G;c.11954G>A;c.11875_11876delCA;c.11864G>A;c.11712-2A>C;c.11712-2A>G;c.11703delT;c.11694delC;c.11549-1G>A;c.11440G>T;c.11431_11434delCTCA;c.11411delC;c.11328T>A;c.11290dupA;c.11241C>A;c.11231+1G>A;c.11231+1G>T;c.11156G>A;c.11145T>A;c.11100_11104delATATT;c.11105G>A;c.11048-1G>A;c.11048-2A>G;c.11047+1G>A;c.10974_10975dupTA;c.10842_10845delGAAA;c.10759C>T;c.10741-1G>T;c.10712C>T;c.10684G>T;c.10636G>A;c.10612C>T;c.10586-2A>G;c.10561T>C;c.10525A>T;c.10450C>T;c.10388-1G>A;c.10388-1G>C;c.10388-2A>G;c.10342G>A;c.10190_10191delAA;c.10073G>A;c.9976C>T;c.9959-1G>A;c.9827C>G;c.9799T>C;c.9751T>C;c.9685delG;c.9571-2A>G;c.9570+1G>A;c.9469C>T;c.9459C>A;c.9453T>A;c.9424G>T;c.9390G>A;c.9372-1G>A;c.9371+1G>C;c.9345_9346delAC;c.9304C>T;c.9270C>A;c.9258+1G>A;c.9258+1G>T;c.9226_9227delGA;c.9159T>G;c.9119G>A;c.9055+1G>A;c.9048C>A;c.8981G>A;c.8917_8918delCT;c.8890dupT;c.8846-1G>T;c.8846-2A>G;c.8845+1G>A;c.8835G>A;c.8834G>A;c.8740C>T;c.8682delG;c.8682-1G>A;c.8682-2A>C;c.8682-9A>G;c.8681+1G>A;c.8638_8641delTATT;c.8559-2A>G;c.8558+1G>T;c.8557A>T;c.8522G>A;c.8391delA;c.8240delC;c.8223+1G>C;c.8179dupG;c.8167C>T;c.8079G>A;c.7950dupC;c.7620delT;c.7595-1G>A;c.7595-1G>T;c.7595-2A>G;c.7595-3C>G;c.7568G>A;c.7524delT;c.7501C>T;c.7493delG;c.7475C>A;c.7364G>A;c.7244C>G;c.6967C>T;c.6937G>T;c.6862G>T;c.6810delT;c.6805+1G>T;c.6722C>A;c.6722C>T;c.6708_6717delTGACGAGGAC;c.6672dupT;c.6639delA;c.6601C>T;c.6485+1G>A;c.6470delG;c.6446C>A;c.6399G>A;c.6398G>A;c.6326-3_6332delTAGATTTAGC;c.6326-2A>G;c.6289_6302delATCTATTCAGGCAG;c.6224G>A;c.6159delA;c.6050-1G>A;c.6050-2A>G;c.5883_5884delAA;c.5877delT;c.5858-1G>A;c.5857+2T>C;c.5836C>T;c.5788C>T;c.5777-2A>C;c.5776+2T>C;c.5776+1G>A;c.5743_5744delAG;c.5614delGinsTTAACTTGGCAT;c.5581G>A;c.5573-2A>G;c.5572+1G>A;c.5499_5511delGAATTCACCAGTT;c.5399G>A;c.5278delG;c.5167+1G>C;c.5167+1G>T;c.5118G>A;c.5001dupA;c.4988-2A>G;c.4957C>T;c.4886-1G>A;c.4821G>A;c.4818dupA;c.4645C>T;c.4510dupA;c.4474G>T;c.4429G>T;c.4405C>T;c.4397-1G>A;c.4338_4339delCT;c.4321G>T;c.4222C>T;c.4174G>T;c.4133_4134dupTC;c.4125delG;c.4082-2A>G;c.4081+2T>C;c.3967delA;c.3920C>G;c.3891delT;c.3883C>T;c.3680dupG;c.3661C>T;c.3589delT;c.3558delT;c.3507G>A;c.3494_3495delTG;c.3491_3492delCT;c.3435delA;c.3408T>A;c.3407G>A;c.3327C>A;c.3317-1G>A;c.3309C>A;c.3221G>A;c.3187_3188delCA;c.3129dupT;c.3086delG;c.2994-2A>G;c.2983C>T;c.2898delG;c.2809+2T>A;c.2797C>T;c.2661C>G;c.2616delA;c.2610C>A;c.2541C>A;c.2304C>A;c.2299delG;c.2276G>T;c.2209C>T;c.2168-1G>C;c.2168-2A>G;c.2167+5G>A;c.2135delC;c.2023C>T;c.1992dupT;c.1972-1G>A;c.1966G>A;c.1876C>T;c.1841-2A>G;c.1803delA;c.1722_1723insGA;c.1679delC;c.1606T>C;c.1558delT;c.1256G>T;c.1227G>A;c.1214delA;c.1143+1G>A;c.1111_1112delAT;c.1055C>T;c.1036A>C;c.1000C>T;c.956G>A;c.949C>A;c.920_923dupGCCA;c.908G>A;c.852_853delGA;c.828C>G;c.820C>T;c.802G>A;c.779T>G;c.651+1G>A;c.632G>A;c.545_546delAA;c.486-1G>C;c.449T>A;c.387delT;c.240_241insGATC;c.236_239dupGTAC;c.187C>T;c.100C>T;c.99_100insT;c.43C>T |
| VPS13A | Coreoacantocitosis | Autosómica recesiva | NM_033305.2 | c.269T>A;c.622C>T;c.799C>T;c.2513-2A>T;c.2898T>G;c.3091delG;c.3889C>T;c.4411C>T;c.4956+1G>A;c.8209G>T;c.9109C>T;c.9275+1G>T;c.9431_9432delAG |
| WAS | Síndrome de Wiskott-Aldrich; Trombocitopenia ligada al X | Ligada al X | NM_000377.2 | c.11delG;c.19G>T;c.37C>T;c.91G>A;c.100C>T;c.134C>T;c.167C>T;c.173C>A;c.173C>G;c.223G>A;c.244T>C;c.249C>A;c.257G>A;c.257G>T;c.271C>T;c.273+1G>A;c.290G>A;c.310C>T;c.360+1G>A;c.360+1G>C;c.360+1G>T;c.395_400dupACGAGG;c.390delC;c.466_469delAGAC;c.553C>T;c.734+2T>A;c.763dupC;c.777+1G>A;c.809T>C;c.814T>C;c.881T>C;c.961C>T;c.1001delG;c.1058delC;c.1097delG;c.1157dupC;c.1183_1190dupCCACCACC;c.1271dupG;c.1442T>A |
| WNT10A | Displasia odonto-ónico-dérmica | Autosómica recesiva | NM_025216.2 | c.27G>A;c.321C>A;c.382C>T;c.383G>A;c.616C>T;c.697G>T;c.742C>T;c.949delG;c.1128C>A;c.1168G>T |
| XPA | Xerodermia pigmentosa grupo de complementación A | Autosómica recesiva | NM_000380.3 | c.727C>T;c.682C>T;c.673+2T>C;c.666dupA;c.648_649delGA;c.646C>T;c.631C>T;c.619C>T;c.601_602delGA;c.599T>G;c.572_573delTT;c.555+2T>A;c.555+1G>A;c.545_546insTA;c.501delG;c.476_477delAG;c.459_460delTG;c.451A>T;c.428_429delAG;c.390-1G>C;c.389+1G>A;c.349_353delCTTAT;c.348T>A;c.338_339delTG;c.335_338delTTATinsCATAAGAAA;c.331G>T;c.266_267dupAA;c.235G>T;c.172+1G>A;c.172+1G>T |
