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