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CGT Plus

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.

GenNombre enfermedadHerenciaTranscriptoVariantes patogenicas
ABCA12Ictiosis congénita autosómica recesiva (ICAR) tipo 4A; ICAR tipo 4B (feto arlequín)Autosómica recesivaNM_173076.2c.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
ABCB11Colestasis intrahepática (CI) recurrente benigna tipo 2; CI familiar progresiva tipo 2Autosómica recesivaNM_003742.2c.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
ABCC8Hipoglucemia hiperinsulinémica tipo 1 (hiperinsulinismo congénito); Diabetes mellitus neonatal permanenteAutosómica recesiva*NM_001287174.1c.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
ABCD1AdrenoleucodistrofiaLigada al XNM_000033.3c.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
ACAD9La deficiencia de acil-CoA deshidrogenasa 9 (déficit del complejo mitocondrial I nuclear tipo 20)Autosómica recesivaNM_014049.4c.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
ACADMDeficiencia de acil-CoA deshidrogenasa de cadena mediaAutosómica recesivaNM_001286043.1c.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
ACADSDeficiencia de acil-CoA deshidrogenasa de cadena cortaAutosómica recesivaNM_000017.3c.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
ACADVLDeficiencia de acil-CoA deshidrogenasa de cadena muy largaAutosómica recesivaNM_001270447.1c.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
ACAT1Aciduria ?-metil-acetoacética (deficiencia de ?-cetotiolasa)Autosómica recesivaNM_000019.3c.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
ACOX1Deficiencia de acil-CoA oxidasa peroxisomalAutosómica recesivaNM_004035.6c.1851delT;c.926A>G;c.832A>G;c.591delG;c.532G>T;c.442C>T
ADAInmunodeficiencia combinada grave por deficiencia de adenosina desaminasa (ADA)Autosómica recesivaNM_000022.3c.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
ADAMTS2Síndrome de Ehlers-Danlos tipo dermatosparaxisAutosómica recesivaNM_014244.4c.3070delA;c.2458-6_2458delGCACAGG;c.2384G>A;c.673C>T
AGAAspartilglucosaminuria (deficiencia de aspartilglucosaminidasa)Autosómica recesivaNM_000027.3;NM_001171988.1c.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
AGLEnfermedad de almacenamiento de glucógeno tipo 3Autosómica recesivaNM_000028.2c.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
AGPSCondrodisplasia punctata rizomélica tipo 3Autosómica recesivaNM_003659.3c.926C>T;c.1256G>A;c.1406T>C;c.1703C>T
AGXTHiperoxaluria primaria tipo 1Autosómica recesivaNM_000030.2c.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
AHI1Síndrome de Joubert tipo 3Autosómica recesivaNM_001134830.1c.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
AIRESíndrome de la poliendocrinopatía autoinmune tipo 1 Autosómica recesiva*NM_000383.3c.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
ALDH3A2Síndrome de Sjögren-LarssonAutosómica recesivaNM_001031806.1c.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
ALDOBIntolerancia hereditaria a la fructosaAutosómica recesivaNM_000035.3c.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
ALG1Trastorno congénito de la glicosilación tipo 1KAutosómica recesivaNM_019109.4c.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
ALG6Trastorno congénito de la glicosilación tipo 1CAutosómica recesivaNM_013339.3c.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
ALMS1Síndrome de AlströmAutosómica recesivaNM_015120.4c.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
ALPLHipofosfatasia infantilAutosómica recesivaNM_000478.5c.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
AMTEncefalopatía por glicinaAutosómica recesivaNM_000481.3c.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
ARSíndrome de insensibilidad a los andrógenosLigada al XNM_000044.3c.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
ARG1Argininemia (deficiencia de arginasa)Autosómica recesivaNM_001244438.1c.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
ARSALeucodistrofia metacromáticaAutosómica recesivaNM_000487.5c.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
ARSBMucopolisacaridosis tipo 6 (síndrome de Maroteaux-Lamy)Autosómica recesivaNM_000046.3c.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
ARSECondrodisplasia punctata braquitelefalángicaLigada al XNM_001282628.1c.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
ASLAciduria argininosuccínicaAutosómica recesivaNM_000048.3c.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
ASPAEnfermedad de CanavanAutosómica recesivaNM_000049.2c.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
ASS1Citrulinemia tipo 1Autosómica recesivaNM_000050.4c.-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
ATMAtaxia-telangiectasiaAutosómica recesivaNM_000051.3c.-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
ATP7AEnfermedad de Menkes; Síndrome del cuerno occipitalLigada al XNM_000052.6c.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
ATP7BEnfermedad de WilsonAutosómica recesivaNM_000053.3c.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
ATP8B1Colestasis intrahepática (CI) familiar progresiva tipo 1; CI recurrente benigna tipo 1Autosómica recesivaNM_005603.4c.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
B4GALT1Trastorno congénito de la glicosilación tipo 2DAutosómica recesivaNM_001497.3c.1031dupC
BBS1Síndrome de Bardet Bieldl tipo 1Autosómica recesivaNM_024649.4c.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
BBS10Síndrome de Bardet Bieldl tipo 10Autosómica recesivaNM_024685.3c.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
BBS2Síndrome de Bardet Bieldl tipo 2Autosómica recesivaNM_031885.3c.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
BCKDHAEnfermedad de la orina con olor a jarabe de arce tipo 1AAutosómica recesivaNM_000709.3c.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
BCKDHBEnfermedad de la orina con olor a jarabe de arce tipo 1BAutosómica recesivaNM_000056.4c.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
BCS1LSíndrome de Leigh y trastornos asociados al gen BCS1LAutosómica recesivaNM_001079866.1c.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
BLMSíndrome de BloomAutosómica recesivaNM_000057.3c.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
BSNDSíndrome de Bartter tipo 4AAutosómica recesivaNM_057176.2c.1A>T;c.3G>A;c.10G>T;c.22C>T;c.23G>T;c.35T>C;c.139G>A
BTDDeficiencia de biotinidasaAutosómica recesivaNM_001281726.1;NM_001281723.2c.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
BTKAgammaglobulinemia ligada al X (XLA) tipo 1 Ligada al XNM_001287344.1;NM_000061.2c.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
CA2Osteopetrosis con acidosis tubular renal (osteopetrosis autosómica recesiva tipo 3)Autosómica recesivaNM_000067.2c.120T>G;c.232+1G>A;c.319C>T;c.663+2T>C
CAPN3Distrofia muscular de cinturas autosómica recesiva tipo 1 (LGMD R1)Autosómica recesivaNM_000070.2;NM_173088.1c.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
CBSHomocistinuria por deficiencia de cistationina beta-sintasa Autosómica recesivaNM_000071.2c.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
CD40LGSíndrome de hiper-IgM tipo 1 (inmunodeficiencia ligada al X con hiper-IgM tipo 1)Ligada al XNM_000074.2c.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
CDH23Sordera autosómica recesiva tipo 12; Síndrome de Usher tipo 1DAutosómica recesivaNM_022124.5c.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
CEP290Síndrome de Meckel tipo 4; Síndrome de Joubert tipo 5; Amaurosis congénita de Leber tipo 10Autosómica recesivaNM_025114.3c.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
CERKLRetinosis pigmentaria tipo 26Autosómica recesivaNM_001030311.2c.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
CFTRFibrosis quísticaAutosómica recesivaNM_000492.3c.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
CHATSíndrome miasténico presináptico congénito tipo 6Autosómica recesivaNM_020549.4c.406G>A;c.418C>T;c.620G>A;c.1642C>T
CHMCoroideremiaLigada al XNM_000390.3c.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
CHRNESíndrome miasténico congénito de canal rápido tipo 4B ; Síndrome miasténico congénito asociado con deficiencia del receptor de acetilcolina tipo 4CAutosómica recesivaNM_000080.3c.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
CLN3Lipofuscinosis neuronal ceroide tipo 3Autosómica recesivaNM_000086.2c.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
CLN5Lipofuscinosis neuronal ceroide tipo 5Autosómica recesivaNM_006493.2c.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
CLN6Lipofuscinosis neuronal ceroide tipo 6Autosómica recesivaNM_017882.2c.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
CLN8Lipofuscinosis neuronal ceroide tipo 8Autosómica recesivaNM_018941.3c.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
CLRN1Síndrome de Usher tipo 3AAutosómica recesivaNM_001195794.1;NM_001256819.1c.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
CNGB3Acromatopsia tipo 3Autosómica recesivaNM_019098.4c.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
COL4A3Síndrome de Alport autosómico recesivo tipo 2Autosómica recesivaNM_000091.4c.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
COL4A4Síndrome de Alport autosómico recesivo tipo 2Autosómica recesivaNM_000092.4c.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
COL7A1Epidermólisis ampollosa distrófica (EAD) tipo Hallopeau-Siemens (HS) y tipo no-HS; EAD pruriginosa; EAD pretibialAutosómica recesiva; Autosómica recesiva*NM_000094.3c.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
COLQSíndrome miasténico congénito tipo 5Autosómica recesivaNM_005677.3c.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
CPS1Deficiencia de carbamoil fosfato sintetasa 1Autosómica recesivaNM_001122633.2c.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
CPT1ADeficiencia de carnitina palmitoiltransferasa tipo 1AAutosómica recesivaNM_001876.3c.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
CPT2Deficiencia de carnitina palmitoiltransferasa tipo 2, forma neonatal letal; Deficiencia de carnitina palmitoiltransferasa tipo 2, forma infantilAutosómica recesivaNM_000098.2c.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
CRB1Retinosis pigmentaria tipo 12; Amaurosis congénita de Leber tipo 8Autosómica recesivaNM_201253.2c.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
CRTAPOsteogénesis imperfecta tipo 7Autosómica recesivaNM_006371.4c.118_133delGAGCTGATGCCGCTCGinsTACCC;c.118G>T;c.180G>A;c.471+2C>A;c.561T>G;c.634C>T;c.826C>T
CTNSCistinosis nefropáticaAutosómica recesivaNM_001031681.2c.-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
CTSDLipofuscinosis neuronal ceroide tipo 10Autosómica recesivaNM_001909.4c.1155_1169dupGGGCGACGTCTTCAT;c.1149G>C;c.764dupA;c.685T>A;c.446G>T;c.299C>T;c.268dupC
CTSKPicnodisostosisAutosómica recesivaNM_000396.3c.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
CYBAEnfermedad granulomatosa crónica autosómica recesiva por deficiencia de CYBAAutosómica recesivaNM_000101.3c.354C>A;c.7C>T
CYBBEnfermedad granulomatosa crónica ligada al cromosoma XLigada al XNM_000397.3c.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
CYP1B1Glaucoma congénito primario tipo 3AAutosómica recesivaNM_000104.3c.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
CYP27A1Xantomatosis cerebrotendinosaAutosómica recesivaNM_000784.3c.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
DBTEnfermedad de la orina con olor a jarabe de arce tipo 2Autosómica recesivaNM_001918.3c.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
DCLRE1CSíndrome de Omenn; Inmunodeficiencia combinada grave tipo AthabascanAutosómica recesivaNM_001033855.2c.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
DDB2Xerodermia pigmentosa grupo de complementación EAutosómica recesivaNM_000107.2c.730A>G;c.818G>A;c.919G>T;c.937C>T
DHCR7Síndrome de Smith-Lemli-OpitzAutosómica recesivaNM_001163817.1c.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
DHDDSRetinosis pigmentaria tipo 59Autosómica recesivaNM_024887.3c.124A>G;c.192G>A;c.330delA;c.998C>G
DLDDeficiencia de dihidrolipoamida deshidrogenasaAutosómica recesivaNM_000108.4c.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
DOK7Secuencia deformante de aquinesia fetal tipo 3; Síndrome miasténico congénito tipo 10Autosómica recesivaNM_001301071.1c.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
DOLKTrastorno congénito de la glicosilación tipo 1MAutosómica recesivaNM_014908.3c.2T>C
DPAGT1Trastorno congénito de la glicosilación tipo 1J; Síndrome miasténico congénito tipo 13Autosómica recesivaNM_001382.3c.980_981delCT;c.791T>G;c.699dupC;c.643+1G>A;c.358C>A;c.349G>A;c.324G>C;c.26dupT
DPM1Trastorno congénito de la glicosilación tipo 1EAutosómica recesivaNM_001317034.1c.847T>C;c.784-1G>T;c.733delC;c.669-1G>A;c.331_343delGGAAACTACATCA;c.274C>G
DPYDDeficiencia de dihidropirimidina deshidrogenasaAutosómica recesivaNM_000110.3c.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
DYSFDistrofia muscular de Miyoshi tipo 1; Distrofia muscular de cinturas autosómica recesiva tipo 2 (LGMD R2)Autosómica recesivaNM_001130987.1;NM_001130978.1c.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
EDADisplasia ectodérmica hipohidrótica tipo 1 ligada al XLigada al XNM_001399.4c.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
EIF2B5Leucoencefalopatía con sustancia blanca evanescenteAutosómica recesivaNM_003907.2c.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
EMDDistrofia muscular de Emery-Dreifuss tipo 1 ligada al XLigada al XNM_000117.2c.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
ERCC2Tricotiodistrofia tipo 1Autosómica recesivaNM_000400.3c.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
ERCC3Tricotiodistrofia tipo 2Autosómica recesivaNM_000122.1c.1858delG;c.1757_1758delAG;c.1757delA;c.1633C>T;c.1421dupA;c.1273C>T;c.355A>C;c.325C>T;c.296T>C
ERCC5Síndrome cerebro-óculo-facio-esquelético tipo 3Autosómica recesivaNM_000123.3c.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
ESCO2Síndrome de RobertsAutosómica recesivaNM_001017420.2c.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
ETFAAcidemia glutárica tipo 2AAutosómica recesivaNM_000126.3c.797C>T;c.667C>T;c.625C>T;c.470T>G;c.346G>A
ETFBAcidemia glutárica tipo 2BAutosómica recesivaNM_001014763.1c.887_889delAGA;c.764G>A;c.655G>A;c.551_552insG;c.334C>T;c.278_279insG
ETFDHAcidemia glutárica tipo 2CAutosómica recesivaNM_004453.3c.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
ETHE1Encefalopatía etilmalónicaAutosómica recesivaNM_014297.4c.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
EYSRetinosis pigmentaria tipo 25Autosómica recesivaNM_001292009.1c.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
F8Hemofilia ALigada al XNM_000132.3c.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)
F9Hemofilia BLigada al XNM_000133.3c.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
FAHTirosinemia tipo 1Autosómica recesivaNM_000137.2c.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
FAM20CSíndrome de RaineAutosómica recesivaNM_020223.3c.1093G>C;c.1136G>A;c.1163T>G;c.1225C>T;c.1364-2A>G;c.1446-1G>A
FANCAAnemia de Fanconi grupo de complementación AAutosómica recesivaNM_000135.2c.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
FANCCAnemia de Fanconi grupo de complementación CAutosómica recesivaNM_000136.2c.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
FANCGAnemia de Fanconi grupo de complementación GAutosómica recesivaNM_004629.1c.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
FHDéficit de fumarasaAutosómica recesivaNM_000143.3c.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
FKRPDistrofia muscular-distroglicanopatía tipo 5A, 5B y 5CAutosómica recesivaNM_001039885.2c.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
FKTNDistrofia muscular-distroglicanopatía congénita tipo 4A (síndrome de Walker-Warburg); Tipo 4B; Tipo 4C (distrofia muscular de cinturas autosómica recesiva tipo 13 [LGMD R13])Autosómica recesivaNM_001079802.1c.-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
FMR1Síndrome de X-frágilLigada al X-Expanded allele_full mutation;Expanded allele_premutation
FRAS1Síndrome de Fraser tipo 1Autosómica recesivaNM_025074.6c.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
G6PCEnfermedad de almacenamiento de glucógeno tipo 1AAutosómica recesivaNM_000151.3;NM_001270397.1c.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
G6PC3Síndrome de DursunAutosómica recesivaNM_138387.3c.130C>T;c.141C>G;c.210delC;c.346A>G;c.758G>A;c.778G>C;c.784G>C;c.829C>T;c.935dupT
G6PDAnemia hemolítica por deficiencia de G6PD (favismo)Ligada al XNM_000402.4c.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
GAAEnfermedad de almacenamiento de glucógeno tipo 2Autosómica recesivaNR_134848.1;NM_000152.4n.*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
GALCEnfermedad de KrabbeAutosómica recesivaNM_000153.3c.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
GALK1Deficiencia de galactoquinasa con cataratasAutosómica recesivaNM_000154.1c.1144C>T;c.944+1G>T;c.612-1G>A;c.410delG;c.238G>T;c.82C>A
GALNSMucopolisacaridosis tipo 4AAutosómica recesivaNM_001323544.1c.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
GALTGalactosemiaAutosómica recesivaNM_000155.3c.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
GAMTSíndrome de deficiencia de creatina cerebral tipo 2Autosómica recesivaNM_138924.2c.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
GBAEnfermedad de GaucherAutosómica recesivaNM_000157.3c.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
GBE1Enfermedad de almacenamiento de glucógeno tipo 4Autosómica recesivaNM_000158.3c.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
GCDHAcidemia glutárica tipo 1Autosómica recesivaNM_000159.3c.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
GCH1Hiperfenilalaninemia por deficiencia de BH4 tipo BAutosómica recesivaNM_000161.2c.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
GFM1Déficit combinado de la fosforilación oxidativa tipo 1Autosómica recesivaNM_001308164.1c.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
GJB2Sordera autosómica recesiva tipo 1AAutosómica recesivaNM_004004.5c.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
GLAEnfermedad de FabryLigada al XNM_000169.2c.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
GLB1Gangliosidosis GM1, tipos 1-3; Mucopolisacaridosis, tipo 4B (Morquio)Autosómica recesivaNM_001317040.1c.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
GLDCEncefalopatía por glicinaAutosómica recesivaNM_000170.2c.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
GLE1Síndrome de contractura congénita letal tipo 1; Artrogriposis congénita con enfermedad de células del asta anteriorAutosómica recesivaNM_001003722.1c.898-2A>G;c.1412_1413delAG;c.2051T>C;c.2069_2072delTTCT
GNEMiopatía con cuerpos de inclusión tipo 2 (miopatía de Nonaka)Autosómica recesivaNM_001128227.2c.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
GNPTABMucolipidosis tipo 2 alfa/beta; Mucolipidosis tipo 3 alfa/betaAutosómica recesivaNM_024312.4c.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
GNSMucopolisacaridosis tipo 3D (Síndrome Sanfilippo D)Autosómica recesivaNM_002076.3c.1226dupG;c.1169delA;c.1168C>T;c.1138_1139insGTCCT;c.1063C>T;c.413C>G;c.83delT
GPR143Albinismo ocular tipo 1 (tipo Nettleship-Falls)Ligada al XNM_000273.2c.992_993insCG;c.768-1G>A;c.695C>A
GRHPRHiperoxaluria primaria tipo 2Autosómica recesivaNM_012203.1c.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
GUSBMucopolisacaridosis tipo 7Autosómica recesivaNM_000181.3c.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
HADHADeficiencia de 3-hidroxiacil CoA-deshidrogenasa de cadena larga Autosómica recesivaNM_000182.4c.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
HADHBDeficiencia de proteina trifuncional mitocondrialAutosómica recesivaNM_000183.2c.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
HAX1Neutropenia congénita grave tipo 3 autosómica recesivaAutosómica recesivaNM_006118.3c.91delG;c.256C>T;c.430dupG;c.568C>T
HBA1Alfa talasemiaAutosómica recesiva---FIL;--MED;--SEA;--THAI;-(?)20.5;-?3.7;-?4.2
HBA2Alfa talasemiaAutosómica recesiva---FIL;--MED;--SEA;--THAI;-(?)20.5;-?3.7;-?4.2
HBBHemoglobinopatías asociadas al gen HBBAutosómica recesivaNM_000518.4c.*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
HEXAEnfermedad de Tay-SachsAutosómica recesivaNM_001318825.1;NM_000520.5c.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
HEXBEnfermedad de Sandhoff forma infantil, juvenil y adultaAutosómica recesivaNM_000521.3c.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
HGDAlcaptonuriaAutosómica recesivaNM_000187.3c.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
HGSNATMucopolisacaridosis tipo 3C (Síndrome Sanfilippo C)Autosómica recesivaNM_152419.2c.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
HLCSDeficiencia de holocarboxilasa sintetasaAutosómica recesivaNM_000411.6c.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
HMGCLAciduria 3-hidroxi-3-metil-glutáricaAutosómica recesivaNM_000191.2c.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
HPS1Síndrome de Hermansky-Pudlak tipo 1Autosómica recesivaNM_000195.4c.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
HPS3Síndrome de Hermansky-Pudlak tipo 3Autosómica recesivaNM_032383.4c.1163+1G>A;c.1691+2T>G;c.2482-2A>G;c.2589+1G>C
HSD17B4Déficit de proteína D bifuncionalAutosómica recesivaNM_000414.3;NM_001199291.2c.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
HSPG2Displasia disegmentaria tipo Silverman-HandmakerAutosómica recesivaNM_001291860.1c.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
HYLS1Síndrome hidroletalusAutosómica recesivaNM_001134793.1c.632A>G;c.669G>A;c.724C>T
IDSMucopolisacaridosis tipo 2Ligada al XNM_000202.7;NM_001166550.3c.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
IDUAMucipolisacaridosis tipo 1h; Mucipolisacaridosis tipo 1h/s; Mucipolisacaridosis tipo sAutosómica recesivaNM_000203.4c.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
IGHMBP2Enfermedad de Charcot-Marie-Tooth axonal tipo 2SAutosómica recesivaNM_002180.2c.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
IL2RGInmunodeficiencia combinada grave ligada al XLigada al XNM_000206.2c.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
IVDAcidemia isovaléricaAutosómica recesivaNM_002225.3c.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
KCNJ11Hipoglucemia hiperinsulinémica tipo 2 (hiperinsulinismo congénito); Diabetes mellitus neonatal permanenteAutosómica recesiva; Autosómica recesiva*NM_000525.3c.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
L1CAMSíndrome L1Ligada al XNM_000425.4c.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
LAMA2Distrofia muscular asociada al gen LAMA2Autosómica recesivaNM_000426.3c.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
LAMA3Epidermólisis ampollosa juntural (EAJ) tipo Herlitz; EAJ tipo no-HerlitzAutosómica recesivaNM_198129.2;NM_000227.4c.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
LAMB3Epidermólisis ampollosa juntural (EAJ) tipo Herlitz; EAJ tipo no-HerlitzAutosómica recesivaNM_000228.2c.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
LAMC2Epidermólisis ampollosa juntural (EAJ) tipo Herlitz; EAJ tipo no-HerlitzAutosómica recesivaNM_005562.2c.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
LARGE1Distrofia muscular-distroglicanopatía tipo 6A y tipo 6BAutosómica recesivaNM_004737.4c.1525G>A;c.1483T>C;c.1102C>T;c.992C>T
LHX3Déficit combinado de hormonas hipofisarias tipo 3Autosómica recesivaNM_014564.4c.687G>A;c.644C>T;c.347A>G;c.302_303delGCinsTCCT;c.148A>T;c.111delT
LIFRSíndrome de Stuve-Wiedemann (Síndrome de Schwartz-Jampel tipo 2)Autosómica recesivaNM_001127671.1c.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
LIPADeficiencia de lipasa acida lisosomal (Wolman)Autosómica recesivaNM_000235.3c.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
LOXHD1Sordera autosómica recesiva tipo 77Autosómica recesivaNM_144612.6c.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
LRPPRCSíndrome de Leigh tipo franco-canadienseAutosómica recesivaNM_133259.3c.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
LYSTSíndrome de Chediak-HigashiAutosómica recesivaNM_000081.3c.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
MAN2B1Alfa-manosidosis tipo 1 y 2Autosómica recesivaNM_000528.3c.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
MCCC2Déficit de 3-metilcrotonil-CoA carboxilasa tipo 2Autosómica recesivaNM_022132.4c.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
MCOLN1Mucopolidosis tipo 4Autosómica recesivaNM_020533.2c.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
MECP2Encefalopatía neonatal graveLigada al XNM_001110792.1;NM_004992.3c.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
MEFVFiebre mediterránea familiarAutosómica recesivaNM_000243.2c.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
MFSD8Lipofuscinosis neuronal ceroidea tipo 7Autosómica recesivaNM_152778.2c.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
MKS1Síndrome de Bardet-Bield tipo 13; Meckel syndrome tipo 1 Autosómica recesivaNM_001321269.1;NM_001321268.1c.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
MLC1Leucoencefalopatía megalencefálica con quistes subcorticalesAutosómica recesivaNM_015166.3c.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
MMAAAcidemia metilmalónica sensible a vitamina B12Autosómica recesivaNM_172250.2c.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
MMABAcidemia metilmalónica sensible a vitamina B12Autosómica recesivaNM_052845.3c.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
MMACHCAcidemia metilmalónica y homocistinuria tipo cbICAutosómica recesivaNM_015506.2c.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
MMADHCHomocistinuria tipo cbID, variante 1Autosómica recesivaNM_015702.2c.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
MMUTAcidemia metilmalónica tipo mutAutosómica recesivaNM_000255.3c.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
MOGSTrastorno congénito de la glicosilación tipo 2bAutosómica recesivaNM_006302.2c.1457G>C;c.370C>T
MPITrastorno congénito de la glicosilación tipo 1bAutosómica recesivaNM_002435.2c.-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
MPLTrombocitopenia congénita amegacariocíticaAutosómica recesivaNM_005373.2c.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
MPV17Síndrome de depleción de ADN mitocondrial tipo 6 (hepatocerebral); Enfermedad Charcot-Marie-Tooth axonal tipo 2EEAutosómica recesivaNM_002437.4c.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
MTM1Miopatía miotubular ligada al XLigada al XNM_000252.2c.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
MTRAnemia megaloblastica homocistinuria tipo cblGAutosómica recesivaNM_000254.2c.1228G>C;c.1753C>T;c.2003delA;c.2114_2115delTC;c.2669_2670delTG;c.3380dupA;c.3518C>T;c.3613G>T
MTRRAnemia megaloblastica homocistinuria tipo cblEAutosómica recesivaNM_024010.2c.1442C>T;c.1460T>G;c.1540G>A;c.1654C>T
MTTPAbetalipoproteinemiaAutosómica recesivaNM_001300785.1c.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
MYO7ASíndrome de Usher tipo 1B; Sordera autosómica recesiva tipo 2Autosómica recesivaNM_000260.3c.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
NAGLUMucopolisacaridosis tipo 3B (Síndrome Sanfilippo B)Autosómica recesivaNM_000263.3c.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
NAGSDéficit de N-acetil glutamato sintetasaAutosómica recesivaNM_153006.2c.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
NBNSíndrome de rotura de NijmegenAutosómica recesivaNM_002485.4c.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
NCF1Enfermedad crónica granulomatosa debido a deficiencia de NCF-1Autosómica recesivaNM_000265.5c.75_76delGT;c.125G>A;c.186dupA;c.271C>T;c.333T>A;c.579G>A
NCF2Enfermedad crónica granulomatosa debido a deficiencia de NCF-2Autosómica recesivaNM_000433.3c.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
NDRG1Enfermedad de Charcot-Marie-Tooth tipo 4DAutosómica recesivaNM_001135242.1c.928C>T;c.681dupC;c.538-1G>A;c.442C>T;c.205+1G>A;c.16C>T
NEBMiopatía nemalínica autosómica recesiva tipo 2Autosómica recesivaNM_001271208.1;NM_004543.4c.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
NHP2Disqueratosis congénita autosómica recesiva tipo 2Autosómica recesivaNM_017838.3c.460T>A;c.415T>C;c.289_290delAT
NOP10Disqueratosis congénita autosómica recesiva tipo 1Autosómica recesivaNM_018648.3c.100C>T
NPC1Enfermedad de Niemann-Pick tipo C1Autosómica recesivaNM_000271.4c.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
NPC2Enfermedad de Niemann-Pick tipo C2Autosómica recesivaNM_006432.3c.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
NPHS1Síndrome nefrótico tipo 1Autosómica recesivaNM_004646.3c.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
NPHS2Síndrome nefrótico tipo 2Autosómica recesivaNM_014625.3c.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
NR0B1Hipoplasia adrenal congénitaLigada al XNM_000475.4c.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
NR2E3Síndrome del cono-S aumentado (Goldmann-Favre); Retinosis pigmentaria tipo 37Autosómica recesiva; Autosómica recesiva*NM_014249.3c.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
NTRK1Insensibilidad congénita al dolor con anhidrosisAutosómica recesivaNM_002529.3c.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
OATDeficiencia de ornitina aminotransferasa (Atrofia girada de la coroides y la retina)Autosómica recesivaNM_000274.3c.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
OCA2Albinismo oculocutáneo tipo 2Autosómica recesivaNM_000275.2c.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
OCRLSíndrome de Lowe; Enfermedad de Dent tipo 2Ligada al XNM_001318784.1c.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
OPA3Aciduria 3-metilglutacónica tipo 3Autosómica recesivaNM_001017989.2;NM_025136.3c.220delG;c.415C>T;c.143-1G>C;c.142+1G>A
OSTM1Osteopetrosis autosómica recesiva tipo 5Autosómica recesivaNM_014028.3c.415_416delAG;c.36T>A
OTCDéficit de ornitina transcarbamilasaLigada al XNM_000531.5c.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
P3H1Osteogénesis imperfecta tipo 8Autosómica recesivaNM_001243246.1c.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
PAHFenilcetonuria Autosómica recesivaNM_000277.1c.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
PCDéficit de piruvato carboxilasaAutosómica recesivaNM_000920.3c.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
PCCAAcidemia propionicaAutosómica recesivaNM_000282.3c.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
PCCBAcidemia propionicaAutosómica recesivaNM_001178014.1c.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
PCDH15Sordera autosómica recesiva tipo 23; Síndrome de Usher tipo 1D/1F digénicoAutosómica recesivaNM_001142763.1;NM_001142771.1;NM_001142766.1c.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
PDHA1Déficit de piruvato deshidrogenasa E1 alfaLigada al XNM_001173454.1c.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
PEX1Síndrome de Heimler tipo 1Autosómica recesivaNM_000466.2c.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
PEX2Trastorno de la biogénesis peroxisomal tipo 5A (Síndrome de Zellweger)Autosómica recesivaNM_000318.2c.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
PEX5Trastorno de la biogénesis peroxisomal tipo 2A (Síndrome de Zellweger)Autosómica recesivaNM_001300789.1c.512-2A>G;c.615-1G>A;c.740dupA;c.1342C>T;c.1641T>G;c.1862C>T
PEX6Trastorno de la biogénesis peroxisomal tipo 4A (Síndrome de Zellweger); Trastorno de la biogénesis peroxisomal tipo 4B; Síndrome de Heimler tipo 2Autosómica recesiva; Autosómica recesiva*; Autosómica recesivaNM_000287.3c.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
PEX7Condrodisplasia punctata rizomélica tipo 1Autosómica recesivaNM_000288.3c.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
PHGDHSíndrome de Neu-Laxova tipo 1; Deficiencia de 3-fosfoglicerato deshidrogenasaAutosómica recesivaNM_006623.3c.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
PKHD1Enfermedad renal poliquística tipo 4Autosómica recesivaNM_138694.3c.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
PLA2G6Distrofia neuroaxonal infantil tipo 1Autosómica recesivaNM_003560.2c.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
PLOD1Síndrome de Ehlers-Danlos tipo cifoscoliótico 1Autosómica recesivaNM_001316320.1c.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
PMM2Trastorno congénito de la glicosilación tipo 1AAutosómica recesivaNM_000303.2c.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
PNPODeficiencia de piridox(am)ina 5'-fosfato oxidasaAutosómica recesivaNM_018129.3c.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
POLGEnfermedades asociadas al gen POLGAutosómica recesivaNM_001126131.1c.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
POMGNT1Distrofia muscular-distroglicanopatía congénita tipo 3A (síndrome de Walker-Warburg); Tipo 3B; Tipo 3C (distrofia muscular de cinturas autosómica recesiva tipo 15 [LGMDR15])Autosómica recesivaNM_001243766.1;NM_001290129.1c.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
POMT1Distrofia muscular-distroglicanopatía congénita tipo 1A (síndrome de Walker-Warburg); Tipo 1B; Tipo 1C (distrofia muscular de cinturas autosómica recesiva tipo 11 [LGMD R11])Autosómica recesivaNM_007171.3c.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
POMT2Distrofia muscular-distroglicanopatía congénita tipo 2A (síndrome de Walker-Warburg); Tipo 2B; Tipo 2C (distrofía muscular de cinturas autosómica recesiva tipo 14 [LGMD R14])Autosómica recesivaNM_013382.5c.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
POU1F1Déficit combinado de hormonas hipofisarias tipo 1Autosómica recesiva*NM_001122757.2c.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
PPT1Lipofuscinosis neuronal ceroidea tipo 1Autosómica recesivaNM_000310.3c.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
PRF1Linfohistiocitosis hemofagocítica familiar tipo 2Autosómica recesivaNM_001083116.1c.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
PROP1Déficit combinado de hormonas hipofisarias tipo 2Autosómica recesivaNM_006261.4c.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
PSAPDéficit combinado de saposinaAutosómica recesivaNM_001042465.2;NM_002778.3c.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
PTSHiperfenilalaninemia por deficiencia de BH4 tipo AAutosómica recesivaNM_000317.2c.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
PYGMEnfermedad de McArdleAutosómica recesivaNM_005609.3c.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
QDPRHiperfenilalaninemia por deficiencia de BH4 tipo CAutosómica recesivaNM_000320.2c.472C>T;c.449A>G;c.344C>T;c.322T>G;c.270G>A;c.106T>C;c.68G>A;c.44T>C
RAB23Síndrome de CarpenterAutosómica recesivaNM_001278666.1c.481G>C;c.434T>A;c.407dupC;c.82C>T
RAG1Síndrome de Omenn; Inmunodeficiencia combinada grave célula B negativaAutosómica recesivaNM_000448.2c.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
RAG2Síndrome de Omenn; Inmunodeficiencia combinada grave célula B negativaAutosómica recesivaNM_000536.3c.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
RAPSNSecuencia deformante de aquinesia fetal; Síndrome miasténico congénito asociado con deficiencia de AChRAutosómica recesivaNM_005055.4c.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
RDH12Amaurosis congénita de Leber tipo 13Autosómica recesivaNM_152443.2c.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
RPE65Amaurosis congénita de Leber tipo 2Autosómica recesivaNM_000329.2c.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
RPGRIP1LSíndrome de Joubert tipo 7; Síndrome de Meckel tipo 5; Síndrome de COACHAutosómica recesivaNM_015272.4c.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
RTEL1Disqueratosis congénita autosómica recesiva tipo 5Autosómica recesiva*NM_001283009.1;NM_032957.4c.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
SACSAtaxia espástica tipo Charlevoix-SaguenayAutosómica recesivaNM_014363.5c.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
SBDSSíndrome de Shwachman-DiamondAutosómica recesivaNM_016038.2c.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
SGCADistrofia muscular de cinturas autosómica recesiva tipo 3 (LGMD R3)Autosómica recesivaNM_000023.3c.-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
SGCBDistrofia muscular de cinturas autosómica recesiva tipo 4 (LGMD R4)Autosómica recesivaNM_000232.4c.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
SGCGDistrofia muscular de cinturas autosómica recesiva tipo 5 (LGMD R5)Autosómica recesivaNM_000231.2c.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
SGSHMucopolisacaridosis tipo 3A (Síndrome Sanfilippo A)Autosómica recesivaNM_000199.3c.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
SH2D1ASíndrome linfoproliferativo ligado al X tipo 1Ligada al XNM_002351.4c.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
SLC12A3Síndrome de GitelmanAutosómica recesivaNM_000339.2c.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
SLC12A6Agenesia de cuerpo calloso con neuropatíaAutosómica recesivaNM_133647.1c.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
SLC17A5Enfermedad de SallaAutosómica recesivaNM_012434.4c.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
SLC22A5Deficiencia sistémica primaria de carnitinaAutosómica recesivaNM_001308122.1c.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
SLC25A13Citrulinemia adulta tipo 2Autosómica recesivaNM_001160210.1c.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
SLC25A15Síndrome de Hiperornitinemia - hiperamonemia - homocitrulinuriaAutosómica recesivaNM_014252.3c.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
SLC26A2Acondrogénesis tipo 1B (displasia diastrofica)Autosómica recesivaNM_000112.3c.-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
SLC26A4Sordera autosómica recesiva tipo 4; Síndrome de PendredAutosómica recesivaNM_000441.1c.-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
SLC35A1Trastorno congénito de la glicosilación tipo 2FAutosómica recesivaNM_006416.4c.277_280delGTGCinsTG;c.303G>C
SLC35A3?Artrogriposis, discapacidad intelectual y convulsionesAutosómica recesivaNM_001271685.1c.640C>T;c.1012A>G
SLC35C1Trastorno congénito de la glicosilación tipo 2CAutosómica recesivaNM_018389.4c.91G>T;c.290dupG;c.439C>T;c.503_505delTCT;c.923C>G
SLC35D1Displasia de SchneckenbeckenAutosómica recesivaNM_015139.2c.932G>A;c.319C>T
SLC37A4Enfermedad de almacenamiento de glucógeno tipo 1BAutosómica recesivaNM_001164278.1c.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
SLC45A2Albinismo oculocutáneo tipo 4Autosómica recesivaNM_016180.4c.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
SLC4A11Distrofia endotelial hereditaria congénita tipo 2Autosómica recesivaNM_001174090.1c.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
SLC6A8Síndrome de déficit de creatina cerebral tipo 1Ligada al XNM_005629.3c.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
SLC7A7Intolerancia a la proteína lisinúricaAutosómica recesivaNM_001126105.2c.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
SMN1Atrofia muscular espinalAutosómica recesiva-Exon 7-8 deletion;Exon 7 deletion
SMPD1Enfermedad de Niemann-Pick tipo A; Enfermedad de Niemann-Pick tipo BAutosómica recesivaNM_000543.4;NM_001318087.1c.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
STARHiperplasia adrenal lipoideAutosómica recesivaNM_000349.2c.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
SUMF1Deficiencia múltiple de sulfatasasAutosómica recesivaNM_182760.3c.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
TCIRG1Osteopetrosis autosómica recesiva tipo 1 Autosómica recesivaNM_006019.3c.-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
TFR2Hemocromatosis tipo 3Autosómica recesivaNM_003227.3;NM_001206855.1c.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
TGM1Ictiosis congénita autosómica recesiva (ICAR) tipo 1Autosómica recesivaNM_000359.2c.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
THSíndrome de Segawa autosómico recesivoAutosómica recesivaNM_199292.2c.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
TMEM216Síndrome de Joubert tipo 2; Síndrome de Meckel tipo 2Autosómica recesivaNM_001173991.2c.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
TPP1Lipofuscinosis neuronal ceroide tipo 2Autosómica recesivaNM_000391.3c.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
TSEN54Hipoplasia pontocerebelosa tipo 2A; Hipoplasia pontocerebelosa tipo 4Autosómica recesivaNM_207346.2c.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
TSFMDéficit combinado de la fosforilación oxidativa tipo 3Autosómica recesivaNM_001172696.1c.1_2delAT;c.24_25delCG;c.581delC;c.919C>T;c.997C>T;c.1007G>A
TTPAAtaxia con déficit de vitamina EAutosómica recesivaNM_000370.3c.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
TYRAlbinismo oculocutáneo (OCA) tipo 1A; OCA 1BAutosómica recesivaNM_000372.4c.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
UGT1A1Síndrome de Crigler-Najjar tipo 1; Síndrome de Crigler-Najjar tipo 2Autosómica recesivaNM_000463.2c.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
UNC13DLinfohistiocitosis hemofagocítica familiar tipo 3Autosómica recesivaNM_199242.2c.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
USH1CSíndrome de Usher tipo 1C; Sordera autosómica recesiva tipo 18AAutosómica recesivaNM_153676.3;NM_001297764.1c.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
USH1GSíndrome de Usher tipo 1GAutosómica recesivaNM_173477.4c.1311delG;c.805C>T;c.649C>T;c.511G>T;c.394dupG;c.186_187delCA;c.143T>C;c.113G>A
USH2ASíndrome de Usher tipo 2AAutosómica recesivaNM_206933.2c.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
VPS13ACoreoacantocitosisAutosómica recesivaNM_033305.2c.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
WASSíndrome de Wiskott-Aldrich; Trombocitopenia ligada al XLigada al XNM_000377.2c.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
WNT10ADisplasia odonto-ónico-dérmicaAutosómica recesivaNM_025216.2c.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
XPAXerodermia pigmentosa grupo de complementación AAutosómica recesivaNM_000380.3c.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
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