| gene | disorder | mutation |
|---|
| 22q11.2 micro-deletion | del22q11.2 |
| APOE | E2, E3, E4 |
| Prader Willi/Angelman | del15q11 to q14 |
| Retinoblastoma | del13q14 |
| Subtelomeric Rearrangements | del(10)t(6;7;10)(q16;q34;q26), del(8)(p21pter) |
| Williams-Beuren Syndrome | del7q11.23 |
| X-Linked Ichthyosis | del Xp22.3 |
| ATP7B | Wilson Disease | c.-3904-2 A>, c.1707+3insT, c.1708-1 G>, c.1782delT, c.2101delAT, c.2299insC, c.2530delA, c.4125-1 G>, c.779insC, c.845delT, p.A486S, p.G1061E, p.G1099S, p.H1069Q, p.I1148T, p.L936X, p.Q289X, p.R778G, p.R969Q, p.V890M, p.X1466R, Uncharacterized |
| AZF | Y-linked Spermatogenic Failure | AZFa, AZFab, AZFb, AZFbc, AZFc |
| b | Cystic Fibrosis | |
| CFTR | Cystic Fibrosis | 1078delT, 1112delT, 1154insTC, 1199delG, 1213delT, 1215delG, 1221delCT, 1249-27delTA, 1249-29delAT, 1249-5A->G, 1259insA, 1294del7, 1341G->A, 1367delC, 1461ins4, 1471delA, 1497delGG, 1525-1G->A, 1548delG, 1571delG, 1601delTC, 1609delCA, 1677delTA, 1706del17, 1716+1G->A, 1716G->A, 1717-1G->A, 1717-2A->G, 1717-8G->A, 175insT, 1782delA, 1784delG, 1811+1.6kbA->G, 1811+1G->C, 1812-1G->A, 1813insC, 1817delT, 1833delT, 1845delAG/1846delGA, 185+1G->T, 1874insT + Y577F, 1898+1G->A, 1898+1G->C, 1898+3A->G (+ 186-13C->G), 1898+5G->A + E725K, 1898+5G->T, 1898+73T->G, 1918delGC, 1949del84, 2043delG, 2051delTT, 2116delCTAA, 2118del4, 211delG, 2143delT, 2176insC, 2181delA, 2183AA->G, 2184delA, 2184insA, 2184insG, 2347delG, 2372del8, 237insA, 241delAT, 2423delG, 244delTA, 2493ins8, 2603delT, 2622+1G->A, 2622+2del6, 2623-2 A->G, 2708del13, 2711delT, 2721del11, 2751+2T->A, 2751+3A->G, 2751G->A, 2752-26A->G, 2766del8, 2789+5G->A, 2790-1G->C, 2790-2A->G, 284delA, 2869insG, 2907delTT, 2909delT, 2948AT->C, 295ins8, 296+1G->C, 296+2T->C, 296+3insT (+V754M), 296+9A->T, 297-28insA, 297-2A->G, 297-3C->A, 297-3C->T, 3007delG, 300delA, 3056delGA, 306delTAGA, 306insA, 3120+1G->A, 3120+1kb del8.6kb, 3120G->A, 3121-1G->A, 3126del4, 3129del4, 3132delTG, 3153delT, 3171insC, 3172delAC, 3195del6, 3271+39delG, 3272-1G->A, 3272-26A->G, 3272-54del704, 3419delT, 347delC, 359insT, 3600+2insT, 3601-17T->C, 3657del13, 3659delC, 3667del4, 3667ins4, 3732delA, 3737delA, 3750delAG, 3789insA, 3821delT, 3849+10kbC->T, 3849+1G->A, 3849+4A->G, 3849+5G->A, 3849G->A, 3850-1G->A, 3860ins31, 3905insT, 3944delGT, 394delT, 394delTT, 4005+1G->A, 4005+2T->C, 4006-8T->A, 4010delTAAT, 4015delA, 4016insT, 4040delA, 405+1G->A, 405+4A->G, 406-1G->C, 406-1G->T, 406-3T->C, 4095+2 T->A, 4108delT, 412del7->TA, 4167del7, 420del9, 4218insT, 4279insA, 4374+1G->A, 4382delA, 444delA, 457TAT->G, 458delAT, 460delG, 525delT, 541del4, 541delC, 542del7, 552insA, 557delT, 574delA, 605insT, 621+1G->T, 621+2T->G, 621+3A->G, 622-1G->A, 624delT, 676delA, 677delTA, 711+1G->A, 711+1G->T, 711+3A->G, 711+3A->T, 711+5G->A, 712-1 G->T, 712-2A->G, 852del22, 875+1G->A, 936delTA, 991del5, 994del9, A1006E, A120T, A155P, A309D, A349V, A399D, A455E, A46D (+R3W), A559T, A561E, A613T, A72D, A96E, c.1525-1G>A, c.1677delTA, c.2184insA, c.2723delTT, c.2789+5G>A, c.2907delTT, c.3849+10KbC>T, c.4010del5, c.4096-28G>A, c.457TAT>G, c.475 TAT>G, c.525delT, c.574delA, c.621+1 G>T, C276X, C524X, CFTR50kbdel, CFTRdel14b-18, CFTRdel17a17b, CFTRdel2, CFTRdel2,3(21kb), CFTRdel4, CFTRdele19, CFTRdele2(ins186), D110E, D110H, D1152H, D1270N+R74W, D1445N, D192G, D443Y, D44G, D565G, D572N, D579G, D614G, D836Y, D993Y, E116K, E1228G, E1264A, E1308X, E1401X, E193K, E217G, E278del, E504Q, E528X, E585X, E60K, E60X, E692X, E725K, E730X, E822K, E822X, E831X, E92K, E92X, F1052V, F1052X, F1074L, F311del, F311L, F508del, F693L(CTT), F87L, G1069R (+ L88X), G1244E, G1244V (+S912L), G1249E, G1249R, G126D, G1342D, G1349D, G178R, G27E, G27X, G486X, G542X, G551D, G576X, G628R(G->A), G628R(G->C) + S1235R, G673X, G85E, G85V, G91R, G970R, H1054D, H139R, H199R, H199Y, I1005R, I105N, I1139V, I1234V, I148T, I175V, I336K, I502T, I506L, I506T, I507del, K1177R, K14X, K162E, K536X, K68E, K710X, K830X, L101X, L1040P, L1065F, L1065P, L1065R, L1077P, L1093P, L1260R, L127X, L1335P, L137P, L137R, L138ins, L159S, L206W, L227R, L320F, L320V, L365P, L453del, L558S, L568F, L571S, L732X, L88S, L88X(T->A), L997F, M1028I, M1028R, M1101K, M152V, M1I (ATT), M1K, M1V, M348K, M952I, M952T, N1088D (+R75Q), N1303H, N1303K, N418S, N66S, p.A120T, p.E585X, p.E672del, p.F508del, p.G542X, p.G551D, p.I507del, p.L346P, p.M348K, p.M952I, p.MI1, p.N1303K, p.R1070Q, p.R297Q, p.R334W, p.R75X, p.S466X, p.S4X, p.S549N, p.W1282X, P1013L, P1021S, P140L, P140S, P205S, P574H, P5L, P67L, P99L, Q1035X, Q1100P, Q1238X, Q1281X, Q1291H, Q1313X, Q151X, Q220X, Q2X + R3W, Q30X, Q353X, Q359K-T360K, Q39X, Q493R, Q493X, Q525X, Q552X, Q685X, Q890X, Q98R, R1066C, R1066H, R1066L, R1066S, R1070Q, R1158X, R1162Q, R1162X, R117C, R117H, R117L, R117P, R1283K, R1283M, R297Q, R334L, R334W, R334W (+R1158X), R347H, R347P, R352Q, R553X, R560G, R560K, R560S, R560T, R709N, R709X, R735K, R75L, R75X, R764X, R766M, R792G, R792X, R810G, R851L, R851X, R933G, S108F, S10R, S1118F, S1161R, S1196X, S1235R, S1251N, S1255P, S13F, S42F, S446X, S492F, S4X, S549I, S549N, S549R(A->C), S549R(T->G), S589N, S776X, S813P, S877A, S912X, S945L, T1246I, T1299I, T338I, T388X, T582I, T582R, T665S, uncharacterized, V1008D, V1147I, V1153E, V1212I + F508del, V1397E, V232D, V520F, V562L, V603F, V754M, W1063X, W1089X, W1098X(TAG), W1145X, W1282X, W19X, W202X, W361R(T->A), W361R(T->C), W401X(TGA), W496X, W57G, W57R, W57X (TGA) + F87L, W57X(TAG), W79R, W79X, W846X1, Y1032C, Y1092X(C->A), Y1092X(C->G), Y109C, Y122X, Y161D, Y161N, Y247X, Y563X, Y569C, Y653N, Y89C, Y917C, Y919C |
| CYP21 | 21-Hydroxylase deficiency | 8bpdel, 8ntdel, CL6/p.V281L/p.Q318X, Deletions or conversions, Gene conversion, I2 splice, I2 splice/p.V281L, I2splice, p.I172N, p.I172N/CL6, p.P30L, p.P453S, p.Q318X, p.Q318X/R356W, p.R356W, p.V281L, Uncharacterized |
| Factor V | Venous thrombosis | Factor V-G1691A |
| FGFR3 | Achondroplasia | p.G1138A |
| FMR1 | Fragile X syndrome | (CGG)56-200 Premutation, (CGG)>200 full mutation |
| G6PD | Glycose-6P-Dehydrogenase deficiency | p.A355T, p.A361V, p.D282H, p.F216L, p.H155D, p.N126D/H155D, p.P353S, p.P50S, p.Q449H, p.Q449H/R454C, p.R459P, p.R463H, p.S188F, Uncharacterized |
| GJB2 | Non-syndromic sensorineural deafness | c.-3170G>A, c.291insA, c.35delG, c.88delA, p.A171T, p.E114G, p.E120del, p.L90P, p.R127H, p.R184P, p.R32H, p.V153I, p.V27I, p.W24X |
| GJB2 | Sensorineural deafness | 35delG, A171T, Cx26-291insA, Cx26-35delG, Cx26-88delA, Cx26-delE120, Cx26-L90P, Cx26-R184P, Cx26-W24X, E114G, prom-3170G>A, R127H, R184P, V153I, V27I, W24X |
| GLB1 | GM1 gangliosidosis type I | p.R482H |
| HBA2,HBA1 | Alpha-thalassemia | (+) del, (20.5) del, (5.2) del, (Hb Aghia Sophia) del Cd62, (Hb Agrinio) L29P, (Hb Constant Spring) X142E, (Hb Icaria) P62X, (Hph) Int1-5bpdel, (MedI) del, (Nco) ATG>ACG, (o) del, (PA) AATAAA>AATGAA, (TSaudi) AATAAA>AATAAG, c.688+92A>G, c.97 to 101delTGAGG, del17.5kb, del20.5kb, del26.5kb, del3.7kb, del4.2kb, p.X142E |
| HBB | Beta-thalassemia | 01317.1:g.63201_63819del619, c.*+108_*+112delAATAA, c.*+110T>C, c.*+111A>G, c.*+112A>G, c.*+113A>G, c.-136C>G, c.-137C>A, c.-137C>G, c.-137C>T, c.-138C>A, c.-138C>T, c.-140C>T, c.-142C>T, c.-151C>T, c.-176_92+25del, c.-187C>G, c.-188C>T, c.-29G>A, c.-50A>C, c.-74_31del, c.-78A>C, c.-78A>G, c.-79A>G, c.-80T>A, c.-81A>G, c..46delT, c.100_102delGTG, c.108C>A, c.108delC, c.1099C>T, c.112delT, c.114G>A, c.118C>T, c.118delC, c.1190C>G, c.123delG, c.124_127delTCTT, c.124_127delTTCT, c.126delC, c.1295G>T, c.129_130insG, c.129_130insT, c.130G>T, c.134_delC, c.135delC, c.1424+21A>G, c.146_147insATCT, c.154delC, c.162_163insG, c.165_166insA, c.17-18delCT, c.176C>G, c.17_18delCT, c.184A>T, c.1A>G, c.202-226del, c.202G>A, c.20A>T, c.20delA, c.216_217insA, c.220T>G, c.222G>A, c.222G>C, c.22G>A, c.230delC, c.242delT, c.248C>T, c.25-26delAA, c.250delG, c.254-257delTTCT, c.255_256insC, c.258_259insT, c.259-260insG, c.25_26delAA, c.265delC, c.269_270delGT, c.27-28insG, c.271G>T, c.275T>C, c.27_28insG, c.287_288insA, c.2T>C, c.2T>G, c.315+1G>A, c.315+5G>C, c.316-102C>G, c.316-106C>G, c.316-197C>T, c.316-1delG, c.316-1G>A, c.316-1G>C, c.316-1G>T, c.316-2A>C, c.316-2A>G, c.316-3C>A, c.316-3C>G, c.316-7C>G, c.316-8T>G, c.321_322insG, c.332T>C, c.344T>C, c.364G>T, c.36delT, c.370delA, c.375delA, c.378delA, c.378_379insCCA, c.380delG, c.380T>C, c.383A>C, c.383_385delAGG, c.3G>A, c.3G>T, c.417A>T, c.446-449insACGTTCTCTGA ;c.447-448delTG, c.446G>A, c.446G>C, c.45_46insG, c.47G>A, c.48G>A, c.4delG, c.50A>C, c.51delC, c.52A>T, c.59A>G, c.68-74delAAGTTGG, c.75T>A, c.76-78delGGT, c.76_92+27del, c.78-79insT, c.78_79insT, c.79G>A, c.79G>T, c.82G>T, c.83C>T, c.84_85insC, c.85delC, c.86T>G, c.88delG, c.90C>T, c.92+1G>A, c.92+1G>T, c.92+2T>A, c.92+2T>C, c.92+5G>A, c.92+5G>C, c.92+5G>T, c.92+6T>C, c.92G>A, c.92G>C, c.93-15T>G, c.93-17_93-1delTATTTTCCCACCCTTAG, c.93-1G>A, c.93-1G>C, c.93-21G>A, c.93-21_96del, c.93-3T>G, c.93G>A, c.93G>C, c.94T>C, c.97G>C, c.98T>C, c.hbd 261_hbb 313+8del, Uncharacterized |
| HBD | Delta-thalassemia | c.-105T>C, c.-115A>G, c.-80T>C, c.-86C>A, c.131A>G, c.14C>T, c.178delA, c.257T>C, c.316-1A>GT, c.316-5C>T, c.349C>T, c.35T>G, c.39T>A, c.49G>C, c.82G>T, c.8A>G, c.93-1G>C, Cd 116 (CGC>TGC), Cd 141 (CTG>CCG), Cd 4 (ACT>ATT), IVS II-897 (A>G), U01317.1:g.48843_56050del7208, Uncharacterized |
| HFE | Hemochromatosis | C282Y, E277K, H63D, p.E277K, p.H63D |
| IT15 | Huntington disease | (CAG)41, (CAG)42, (CAG)43, (CAG)44, (CAG)45, (CAG)46, (CAG)47, (CAG)49, (CAG)50, (CAG)54, (CAG)>65 |
| LDLR | Familiar hypercholesterolemia | c.1060+10C>G, c.1587-10G>A, c.2140+5G>A, p.A391T, p.C27W, p.C292X, p.C660X, p.C681X, p.D386E, p.G549D, p.G592E, p.Q254P, p.Q363X and p.D365E, p.Q384P, p.Q384X, p.R744Q, p.S286R, p.V429M, Uncharacterized |
| MEFV | Familial Mediterranean Fever | A761H, E148Q, E167D, F479L, M680I, M694I, M694V, V726A |
| MEFV | Familiar Mediterranean Fever | p.A761H, p.E148Q, p.E167D, p.E167D and p.F479L, p.F479L, p.M680I, p.M694I, p.M694V, p.R761H, p.V726A, Uncharacterized |
| PAH | Phenylketonuria | c.1066-11G>A, c.1155G>C, c.1169A>G, c.1222C>T, c.1238G>C, c.1315+1G>A, c.1316-35C>T, c.143T>C, c.168+19T>C, c.331C>T, c.473G>A, c.47_48delCT, c.510-54A>G, c.529G>C, c.58C>T, c.673C>A, c.692C>T, c.696A>G, c.735G>A, c.755G>A, c.781C>T, c.782G>A, c.842C>T, c.890G>A, c.916A>G, IVS1+5G>T, IVS10+1G>A, IVS10+32T>A, IVS10+3A>C, IVS10+3A>G, IVS10-11G>A, IVS10-14C>G, IVS10-1G>A, IVS10-3C>T, IVS11+1G>A, IVS11+20G>C, IVS11+2T>C, IVS12+1G>A, IVS12+2T>C, IVS12-16T>G, IVS12-35C>T, IVS12-5T>C, IVS2+19T>C, IVS2+1G>A, IVS2+5G>A, IVS2+5G>C, IVS2+5G>T, IVS2+6T>G, IVS2-13T>G, IVS3-22C>T, IVS3-6T>A, IVS4+1G>A, IVS4+47C>T, IVS4+4A>G, IVS4+5G>T, IVS4-1G>A, IVS4-5C>G, IVS5+1G>A, IVS5+5delG, IVS5-54A>G, IVS5-6T>G, IVS6-2A>G, IVS7+1G>A, IVS7+2T>A, IVS7+3G>C, IVS7+5G>A, IVS7-2A>T, IVS8+1G>A, IVS8-7A>G, IVS9+6T>A, p.364delL, p.A104D, p.A165T, p.A246D, p.A246V, p.A259T, p.A259V, p.A300S, p.A309D, p.A309V, p.A342>Hfs, p.A342T, p.A389/p.E390/p.S391, p.A395D, p.A395G, p.A395P, p.A403V, p.A434D, p.A447D, p.A47V, p.D129G, p.D143G, p.D145V, p.D151G, p.D151H, p.D222V, p.D282G, p.D282N, p.D315Y, p.D338Y, p.D394H, p.D415N, p.D84Y, p.E178G, p.E221_D222, p.E221_D222>Efs, p.E280>Dfs, p.E280G, p.E280K, p.E286K, p.E390G, p.E44_V45delinsV, p.E78K, p.EX3del, p.EX5del, p.EX6-96A>G, p.F233L, p.F299C, p.F302fsX39, p.F327L, p.F331C, p.F39del, p.F39L, p.F55>Lfs, p.F55L, p.G10G, p.G148S, p.G171R, p.G188>Afs, p.G218V, p.G239D, p.G239V, p.G247R, p.G247S, p.G247V, p.G272X, p.G312V, p.G332E, p.G337V, p.G344S, p.G346>Gfs, p.G346R, p.G352>Vfs, p.G352R, p.G46S, p.H170D, p.H170R, p.H201R, p.H201Y, p.H271Y, p.H285Y, p.I174T, p.I174V, p.I224T, p.I269>Tfs, p.I269N, p.I283F, p.I283N, p.I306V, p.I38fsX19, p.I65T, p.I94del, p.I94S, p.I95_K96delinsK, p.IVS12+4A>G, p.IVS12+6T>A, p.IVS4+3G>C, p.K274_Y277, p.K320N, p.K341T, p.K363>Afs, p.K363>Nfs, p.K398K, p.K452>Kfs, p.L194>Efs, p.L194P, p.L197_Y204>XfsX1, p.L213P, p.L242F, p.L249F, p.L311P, p.L333F, p.L347F, p.L348V, p.L364del, p.L367>Pfs, p.L367L, p.L385L, p.L48S, p.L88_P89>Pfs, p.M1I, p.M1V, p.M276K, p.M276R, p.N133_Q134>Rfs, p.N167I, p.N207D, p.P122Q, p.P147S, p.P175A, p.P211>Hfs, p.P211T, p.P225R, p.P225T, p.P244L, p.P275S, p.P281L, p.P314H, p.P314T, p.P366_L367>Pfs, p.P407S, p.P69S, p.P89>Pfs, p.Q160P, p.Q172X, p.Q232Q, p.Q235P, p.Q267E, p.Q267H, p.Q304Q, p.Q336R, p.Q336X, p.Q355X, p.R111X, p.R157I, p.R157K, p.R158Q, p.R158W, p.R176L, p.R176X, p.R241>Pfs, p.R241C, p.R241H, p.R241L, p.R243L, p.R243Q, p.R243X, p.R252G, p.R252Q, p.R252W, p.R261P, p.R261Q, p.R261X, p.R270K, p.R297C, p.R297H, p.R400>Gfs, p.R400K, p.R400T, p.R408Q, p.R408W, p.R413P, p.R53H, p.R68S, p.S16>XfsX1, p.S196_C203>Lfs, p.S231P, p.S273F, p.S295X, p.S303P, p.S310F, p.S310_A313, p.S349A, p.S349P, p.S359X, p.S40L, p.S67P, p.S87R, p.T124I, p.T186_W187, p.T186_W187>Tfs, p.T200fsX6, p.T238P, p.T380M, p.T81P, p.T81_R86>VfsX6, p.V177L, p.V190A, p.V230I, p.V245A, p.V245E, p.V245L, p.V245V, p.V388M, p.V399_R400>Gfs, p.W120X, p.W187X, p.W326X, p.Y154H, p.Y166X, p.Y198_E205, p.Y198_E205>Cfs, p.Y204X, p.Y206C, p.Y206X, p.Y216X, p.Y277D, p.Y325X, p.Y343C, p.Y356delins, p.Y356X, p.Y377C, p.Y386C, p.Y387H, p.Y414C, p.Y414Y, Uncharacterized, UNK1, [p.E56E;IVS2+1G>A], [p.T63P;p.H64N] |
| PAH | Sandhoff disease | c.1015G>C, c.76delA, Uncharacterized |
| PI | Alpha1-antitrypsin deficiency | PiM, PiS, PiZ |
| Prothrombin | Venous thrombosis | Prothrombin-G20210A |
| SLC3A1 | Cystinuria | c.1399+1G>T, c.479-1G>C, p.D233E, p.F266S, p.G105R, p.M467T, p.N516D, p.R270X, p.R333W, p.R365L, p.R456C, p.S379R, p.T216M, p.T351I, p.Y232C |
| TYR | Oculocutaneous albinism | 15bp IVS2 del, c.402del, p.D448R, p.G342E, p.H256Y, p.Q359L, p.R299H, p.R402X, p.S360G, p.S50X, p.W272R, p.Y433C, p.Y84X |
| UGT1A1 | Gilbert syndrome | 6/6, 6/7, 6/8, 7/7 |