WDR19 — 1393 ClinVar variants

All ClinVar germline WDR19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 595 flagged for review →

48 Pathogenic · 30 Pathogenic/Likely pathogenic · 77 Likely pathogenic · 68 Conflicting · 49 Benign · 15 Benign/Likely benign · 446 Likely benign · 660 Uncertain significance

Full WDR19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 595

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 7

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

WDR19 p.Asn273Asp Pathogenic/Likely pathogenic Multiple submitters
spermatogenic failure 72
WDR19 p.Arg477Leu Likely pathogenic Single submitter
WDR19-related disorder
WDR19 p.Gly243Val Likely pathogenic Single submitter
WDR19 p.Thr557Pro Likely pathogenic Single submitter
retinitis pigmentosa
WDR19 p.Tyr490Cys Likely pathogenic Single submitter
WDR19-related disorder
WDR19 p.Lys1271Glu Pathogenic No assertion criteria
spermatogenic failure 72
WDR19 p.Val68Asp Pathogenic No assertion criteria
Senior-Loken syndrome 8

Predictors agree, ClinVar conflicts 20

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

WDR19 p.Ala654Thr Conflicting Single submitter
cranioectodermal dysplasia 4
WDR19 p.Ala788Thr Conflicting Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ala796Thr Conflicting Single submitter
cranioectodermal dysplasia 4
WDR19 p.Arg1103Gln Conflicting Single submitter
Inborn genetic diseases
WDR19 p.Arg1178Trp Conflicting Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Arg467Gln Conflicting Single submitter
Inborn genetic diseases
WDR19 p.Asp493His Conflicting Single submitter
nephronophthisis 13
WDR19 p.Gln592Arg Conflicting Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Glu1003Gly Conflicting Single submitter
connective tissue disorder
WDR19 p.Glu456Lys Conflicting Single submitter
spermatogenic failure 72
WDR19 p.Gly1236Glu Conflicting Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.His891Tyr Conflicting Single submitter
Inborn genetic diseases
WDR19 p.Ile520Thr Conflicting Single submitter
nephronophthisis 13
WDR19 p.Ile747Val Conflicting Single submitter
Senior-Loken syndrome 8
WDR19 p.Ile822Val Conflicting Single submitter
Senior-Loken syndrome 8
WDR19 p.Ser250Pro Conflicting Single submitter
WDR19-related disorder
WDR19 p.Tyr310Cys Conflicting Single submitter
Inborn genetic diseases
WDR19 p.Tyr901Cys Conflicting Single submitter
connective tissue disorder
WDR19 p.Tyr931Ser Conflicting Single submitter
connective tissue disorder
WDR19 p.Val164Ile Conflicting Single submitter
spermatogenic failure 72

Predictors lean, ClinVar uncertain 434

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 434

WDR19 p.Ala1148Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Ala1214Thr Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ala1228Gly Uncertain significance Multiple submitters
WDR19-related disorder
WDR19 p.Ala1323Thr Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Ala198Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Ala356Thr Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ala373Gly Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Ala547Thr Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Ala599Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Ala665Pro Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ala762Val Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Ala873Val Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Ala907Val Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Ala958Pro Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ala958Thr Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Arg1038Gln Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Arg1174His Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Arg130Gln Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Arg1337Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Arg3His Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Arg477His Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Arg512Gln Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Arg696His Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Arg829Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Arg929Pro Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asn1121Ser Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Asn1182Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asn125His Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asn319Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asn391Ser Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Asn673Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asn720Ser Uncertain significance Multiple submitters
connective tissue disorder
WDR19 p.Asn793Asp Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asn793Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Asn943Ser Uncertain significance Multiple submitters
cranioectodermal dysplasia 4
WDR19 p.Asn991Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asp1051Tyr Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asp1083Asn Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asp1127Asn Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Asp1168Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Asp1227Glu Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Asp1331Glu Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asp230Ala Uncertain significance Multiple submitters
WDR19-related disorder
WDR19 p.Asp355Val Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asp438Glu Uncertain significance Multiple submitters
nephronophthisis 13
WDR19 p.Asp523Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Asp578Asn Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asp578Glu Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asp67Gly Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asp732Asn Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asp810Glu Uncertain significance Multiple submitters
cranioectodermal dysplasia 4
WDR19 p.Asp810Gly Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Asp98Tyr Uncertain significance Multiple submitters
WDR19-related disorder
WDR19 p.Cys1270Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Cys1292Arg Uncertain significance Multiple submitters
cranioectodermal dysplasia 4
WDR19 p.Cys1292Phe Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Gln185Glu Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Gln339Arg Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Gln592Leu Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Gln764His Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Gln819Lys Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Glu1060Asp Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Glu1146Lys Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Glu463Gly Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Glu648Lys Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Glu751Asp Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Glu982Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Gly115Arg Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Gly1167Val Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Gly156Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Gly262Glu Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Gly526Arg Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Gly866Asp Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.His1155Pro Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.His260Tyr Uncertain significance Multiple submitters
cranioectodermal dysplasia 4
WDR19 p.His274Arg Uncertain significance Multiple submitters
nephronophthisis 13
WDR19 p.His687Tyr Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.His758Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Ile1158Met Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ile1234Met Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Ile268Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Ile558Thr Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Ile716Val Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Ile774Leu Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Ile774Val Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Ile777Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Ile783Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Ile822Leu Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Leu1259Ile Uncertain significance Multiple submitters
cranioectodermal dysplasia 4
WDR19 p.Leu135Pro Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Lys1171Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Lys1185Gln Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Lys137Arg Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Lys160Arg Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Met1147Val Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Met1170Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Met1216Val Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Met246Ile Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Met652Ile Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Met652Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Met96Ile Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Phe19Cys Uncertain significance Multiple submitters
Jeune syndrome
WDR19 p.Pro1047Gln Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Pro1047Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Pro222Ala Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Pro390Thr Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Pro651Ala Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Pro890Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Ser1049Leu Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ser1145Phe Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ser326Cys Uncertain significance Multiple submitters
nephronophthisis 13
WDR19 p.Ser432Gly Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Thr1005Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Thr1006Ala Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Thr1250Met Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Thr143Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Thr171Met Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Thr371Ile Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Thr619Asn Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Thr644Met Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Thr730Ile Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Thr86Lys Uncertain significance Multiple submitters
nephronophthisis 13
WDR19 p.Thr985Lys Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Tyr1023Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Tyr1133His Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Tyr1157Cys Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Tyr237Cys Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Tyr36Asp Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Tyr614Cys Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Tyr996Cys Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Val1128Ala Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Val1164Asp Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Val372Ile Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Val376Ala Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Val412Ile Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Val496Ile Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Val508Ile Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Val885Ile Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Val892Ile Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Val915Ile Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Val915Leu Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Val927Ile Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Ala1054Ser Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ala1113Ser Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ala1119Thr Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ala1125Thr Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ala1125Val Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ala1134Thr Uncertain significance Single submitter
WDR19 p.Ala1180Thr Uncertain significance Single submitter
Inborn genetic diseases
WDR19 p.Ala1249Thr Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 134

The independent predictors disagree with each other — read with care.

WDR19 p.Ala665Val Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ala970Val Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Ala983Val Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Arg1094Cys Uncertain significance Multiple submitters
nephronophthisis 13
WDR19 p.Arg1094His Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Arg1123Gln Uncertain significance Multiple submitters
cranioectodermal dysplasia 4
WDR19 p.Arg1123Trp Uncertain significance Multiple submitters
nephronophthisis 13
WDR19 p.Arg1174Cys Uncertain significance Multiple submitters
nephronophthisis 13
WDR19 p.Arg1174Leu Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Arg1223His Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Arg272Cys Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Arg464Cys Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Arg464His Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Arg699Gln Benign Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Arg699Trp Uncertain significance Multiple submitters
nephronophthisis 13
WDR19 p.Arg878Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Arg878His Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Arg929His Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Asn406Ser Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Asp738Val Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Glu1262Lys Uncertain significance Multiple submitters
cranioectodermal dysplasia 4
WDR19 p.Glu318Lys Uncertain significance Multiple submitters
nephronophthisis 13
WDR19 p.Gly1063Asp Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Gly1084Val Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Gly109Glu Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.His1189Tyr Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.His451Arg Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.His513Asn Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.His635Arg Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ile281Thr Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Ile502Thr Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ile532Thr Benign/Likely benign Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Ile591Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Ile897Met Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Leu1078Phe Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Leu488Phe Uncertain significance Multiple submitters
cone dystrophy
WDR19 p.Met1284Thr Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Met689Thr Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Phe1017Val Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Phe5Ser Pathogenic/Likely pathogenic Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Pro1220Leu Uncertain significance Multiple submitters
spermatogenic failure 72
WDR19 p.Pro1241Leu Benign/Likely benign Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Pro1275Ala Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ser101Tyr Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ser778Thr Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Ser879Pro Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Thr365Ala Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Trp409Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Tyr1010Cys Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Tyr698Ser Uncertain significance Multiple submitters
Senior-Loken syndrome 8
WDR19 p.Tyr740His Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 5
WDR19 p.Val817Glu Uncertain significance Multiple submitters
nephronophthisis 13
WDR19 p.Val831Ala Uncertain significance Multiple submitters
Inborn genetic diseases
WDR19 p.Ala1054Thr Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Ala1065Thr Uncertain significance Single submitter
cranioectodermal dysplasia 4
WDR19 p.Ala794Gly Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ala970Thr Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ala997Glu Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Arg1223Cys Conflicting Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Arg1337Pro Uncertain significance Single submitter
Inborn genetic diseases
WDR19 p.Arg244Pro Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Arg43Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR19 p.Arg477Cys Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Arg512Pro Uncertain significance Single submitter
WDR19 p.Arg754Ser Uncertain significance Single submitter
WDR19 p.Arg828Cys Uncertain significance Single submitter
Inborn genetic diseases
WDR19 p.Arg828Pro Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Arg840Gly Uncertain significance Single submitter
Inborn genetic diseases
WDR19 p.Arg929Cys Conflicting Single submitter
WDR19-related disorder
WDR19 p.Asn120Ile Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Asp1227Gly Uncertain significance Single submitter
WDR19 p.Asp523Glu Uncertain significance Single submitter
Inborn genetic diseases
WDR19 p.Asp533Gly Uncertain significance Single submitter
WDR19 p.Asp577Gly Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Asp755Asn Uncertain significance Single submitter
WDR19 p.Gln737Glu Uncertain significance Single submitter
WDR19 p.Glu1104Val Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Glu462Lys Uncertain significance Single submitter
WDR19 p.Glu462Val Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Glu717Gln Uncertain significance Single submitter
cranioectodermal dysplasia 4
WDR19 p.Glu751Lys Uncertain significance Single submitter
cranioectodermal dysplasia 4
WDR19 p.Gly1167Arg Uncertain significance Single submitter
WDR19 p.Gly1172Glu Conflicting Single submitter
ciliopathy
WDR19 p.Gly1205Ala Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Gly156Val Uncertain significance Single submitter
cranioectodermal dysplasia 4
WDR19 p.Gly243Ser Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Gly560Asp Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Gly789Ser Conflicting Single submitter
Inborn genetic diseases
WDR19 p.Gly965Val Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.His1077Arg Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.His481Arg Likely pathogenic Single submitter
nephronophthisis 13
WDR19 p.Ile1183Phe Uncertain significance Single submitter
cranioectodermal dysplasia 4
WDR19 p.Ile1183Thr Uncertain significance Single submitter
cranioectodermal dysplasia 4
WDR19 p.Ile1278Thr Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Ile312Thr Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ile928Phe Conflicting Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Leu206Pro Likely pathogenic Single submitter
WDR19 p.Leu421Trp Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Leu443Ile Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Leu750Val Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Leu964Pro Conflicting Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Lys1231Glu Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Lys320Ile Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Lys871Thr Uncertain significance Single submitter
Inborn genetic diseases
WDR19 p.Lys896Glu Uncertain significance Single submitter
WDR19 p.Met1175Ile Uncertain significance Single submitter
WDR19 p.Met1316Val Uncertain significance Single submitter
WDR19 p.Phe1043Leu Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Phe1211Leu Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Phe392Val Uncertain significance Single submitter
cranioectodermal dysplasia 4
WDR19 p.Phe410Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR19 p.Phe606Leu Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Phe729Leu Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Phe960Leu Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Pro381Arg Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Pro746Arg Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Pro746Ser Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Pro771Leu Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Pro775Arg Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Ser1156Gly Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ser179Pro Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ser894Phe Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Ser926Ile Conflicting Single submitter
spermatogenic failure 72
WDR19 p.Thr1195Met Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Thr1290Met Conflicting Single submitter
Senior-Loken syndrome 8
WDR19 p.Trp505Arg Uncertain significance Single submitter
WDR19 p.Tyr124Cys Uncertain significance Single submitter
Senior-Loken syndrome 8
WDR19 p.Tyr1335Cys Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Tyr411Cys Uncertain significance Single submitter
asphyxiating thoracic dystrophy 5
WDR19 p.Tyr781His Uncertain significance Single submitter
cranioectodermal dysplasia 4
WDR19 p.Tyr967Cys Uncertain significance Single submitter
Inborn genetic diseases
WDR19 p.Val697Phe Conflicting Single submitter
Inborn genetic diseases
WDR19 p.Val892Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR19 p.Thr527Asn Uncertain significance No assertion criteria
inherited retinal dystrophy

All WDR19 variants

Pathogenic 48

c.1777+1del Multiple submitters Senior-Loken syndrome 8
p.Arg1103Ter Multiple submitters asphyxiating thoracic dystrophy 5
p.Leu214fs Multiple submitters asphyxiating thoracic dystrophy 5
p.Thr1290fs Multiple submitters asphyxiating thoracic dystrophy 5
c.1480-2A>G Single submitter
c.3184-2A>G Single submitter Senior-Loken syndrome 8
c.3566-2A>C Single submitter nephronophthisis 13
p.Arg1174fs Single submitter asphyxiating thoracic dystrophy 5
p.Arg130Ter Single submitter Senior-Loken syndrome 8
p.Arg141fs Single submitter asphyxiating thoracic dystrophy 5
p.Arg512Ter Single submitter Senior-Loken syndrome 8
p.Arg828fs Single submitter asphyxiating thoracic dystrophy 5
p.Asn991fs Single submitter Senior-Loken syndrome 8
p.Asp933fs Single submitter Senior-Loken syndrome 8
p.Cys1277fs Single submitter Senior-Loken syndrome 8
p.Cys78Ter Single submitter asphyxiating thoracic dystrophy 5
p.Gln176Ter Single submitter asphyxiating thoracic dystrophy 5
p.Gln229Ter Single submitter asphyxiating thoracic dystrophy 5
p.Gln285Ter Single submitter Senior-Loken syndrome 8
p.Gln498Ter Single submitter Senior-Loken syndrome 8
p.Gln784fs Single submitter Senior-Loken syndrome 8
p.Gln855Ter Single submitter Senior-Loken syndrome 8
p.Glu780fs Single submitter Senior-Loken syndrome 8
p.Gly495Arg Single submitter Senior-Loken syndrome 8
p.Ile1153fs Single submitter asphyxiating thoracic dystrophy 5
p.Ile361fs Single submitter asphyxiating thoracic dystrophy 5
p.Leu211fs Single submitter Senior-Loken syndrome 8
p.Leu421fs Single submitter asphyxiating thoracic dystrophy 5
p.Lys275_Asp276insTer Single submitter asphyxiating thoracic dystrophy 5
p.Lys275Ter Single submitter Senior-Loken syndrome 8
p.Phe637fs Single submitter Senior-Loken syndrome 8
p.Ser250Ter Single submitter Senior-Loken syndrome 8
p.Ser778Ter Single submitter nephronophthisis 13
p.Trp21fs Single submitter Senior-Loken syndrome 8
p.Trp759Ter Single submitter Senior-Loken syndrome 8
p.Tyr36Ter Single submitter asphyxiating thoracic dystrophy 5
p.Tyr863Ter Single submitter Senior-Loken syndrome 8
p.Val235fs Single submitter Senior-Loken syndrome 8
c.407-2A>G No assertion criteria Senior-Loken syndrome 8
p.Asn319fs No assertion criteria cranioectodermal dysplasia 4
p.Gln228Ter No assertion criteria nephronophthisis 13
p.Gly495Cys No assertion criteria Senior-Loken syndrome 8
p.Leu618Pro No assertion criteria nephronophthisis 13
p.Leu7Pro No assertion criteria asphyxiating thoracic dystrophy 5
p.Lys1271Glu No assertion criteria spermatogenic failure 72 ⚠
p.Tyr1023Ter No assertion criteria nephronophthisis 13
p.Val345Gly No assertion criteria nephronophthisis 13
p.Val68Asp No assertion criteria Senior-Loken syndrome 8 ⚠

Pathogenic/Likely pathogenic 30

c.1250-1G>A Multiple submitters asphyxiating thoracic dystrophy 5
c.1982+2T>C Multiple submitters asphyxiating thoracic dystrophy 5
c.2363+1G>A Multiple submitters nephronophthisis 13
c.3184-2A>C Multiple submitters Senior-Loken syndrome 8
c.3565+1G>A Multiple submitters asphyxiating thoracic dystrophy 5
c.406+1G>T Multiple submitters nephronophthisis 13
p.Ala271fs Multiple submitters Senior-Loken syndrome 8
p.Arg1038Ter Multiple submitters Senior-Loken syndrome 8
p.Arg1178Gln Multiple submitters spermatogenic failure 72
p.Arg48fs Multiple submitters asphyxiating thoracic dystrophy 5
p.Arg829Ter Multiple submitters cone dystrophy
p.Asn273Asp Multiple submitters spermatogenic failure 72 ⚠
p.Gln1107Ter Multiple submitters spermatogenic failure 72
p.Gln623fs Multiple submitters WDR19-related disorder
p.Glu1235Lys Multiple submitters spermatogenic failure 72
p.Glu906fs Multiple submitters Senior-Loken syndrome 8
p.Gly294Arg Multiple submitters spermatogenic failure 72
p.Ile713fs Multiple submitters Senior-Loken syndrome 8
p.Leu214Ter Multiple submitters Senior-Loken syndrome 8
p.Leu710Ser Multiple submitters asphyxiating thoracic dystrophy 5
p.Leu92Ter Multiple submitters retinal disorder
p.Phe5Ser Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Pro375fs Multiple submitters WDR19-related disorder
p.Thr261fs Multiple submitters Senior-Loken syndrome 8
p.Trp147Ter Multiple submitters nephronophthisis 13
p.Trp924Ter Multiple submitters WDR19-related disorder
p.Tyr541Ter Multiple submitters WDR19-related disorder
p.Tyr868fs Multiple submitters asphyxiating thoracic dystrophy 5
p.Asp159Asn No assertion criteria Beemer-Langer syndrome
p.Ile478Met No assertion criteria Senior-Loken syndrome 8

Likely pathogenic 77

c.1135-2A>G Multiple submitters Senior-Loken syndrome 8
c.1778-1G>A Multiple submitters asphyxiating thoracic dystrophy 5
c.2364-2A>G Multiple submitters Senior-Loken syndrome 8
c.2646-2A>G Multiple submitters asphyxiating thoracic dystrophy 5
c.3484-2A>C Multiple submitters WDR19-related disorder
c.961+2T>C Multiple submitters asphyxiating thoracic dystrophy 5
p.Gln339Ter Multiple submitters WDR19-related disorder
c.1134+1G>A Single submitter cranioectodermal dysplasia 4
c.1134+1G>C Single submitter Senior-Loken syndrome 8
c.1357-2A>T Single submitter Senior-Loken syndrome 8
c.1479+2T>C Single submitter asphyxiating thoracic dystrophy 5
c.164+1G>T Single submitter asphyxiating thoracic dystrophy 5
c.1778-2A>C Single submitter Senior-Loken syndrome 8
c.1983-2A>C Single submitter Senior-Loken syndrome 8
c.2142+1del Single submitter WDR19-related disorder
c.2363+3_2363+6del Single submitter Senior-Loken syndrome 8
c.2364-2del Single submitter cranioectodermal dysplasia 4
c.2421+1G>T Single submitter asphyxiating thoracic dystrophy 5
c.2645+1G>A Single submitter nephronophthisis 13
c.2645+1G>T Single submitter WDR19-related disorder
c.2729+1G>A Single submitter Senior-Loken syndrome 8
c.2729+1G>T Single submitter Senior-Loken syndrome 8
c.2730-1G>A Single submitter cranioectodermal dysplasia 4
c.290+1G>T Single submitter Senior-Loken syndrome 8
c.291-2A>G Single submitter cranioectodermal dysplasia 4
c.3262-2A>G Single submitter Senior-Loken syndrome 8
c.3304_3358+36del Single submitter Senior-Loken syndrome 8
c.3483+1G>A Single submitter Senior-Loken syndrome 8
c.3483+1G>C Single submitter asphyxiating thoracic dystrophy 5
c.3716+1G>A Single submitter asphyxiating thoracic dystrophy 5
c.3917+1G>A Single submitter WDR19-related disorder
c.523-1G>C Single submitter cranioectodermal dysplasia 4
c.716+1G>C Single submitter asphyxiating thoracic dystrophy 5
c.716+2del Single submitter asphyxiating thoracic dystrophy 5
c.716+2T>C Single submitter nephronophthisis 13
c.717-1G>A Single submitter cranioectodermal dysplasia 4
c.717-1G>C Single submitter asphyxiating thoracic dystrophy 5
c.890+1G>T Single submitter asphyxiating thoracic dystrophy 5
c.891-1_891delinsAT Single submitter asphyxiating thoracic dystrophy 5
c.891-2A>G Single submitter WDR19-related disorder
c.98+1G>A Single submitter cranioectodermal dysplasia 4
p.Ala154_Leu155insTer Single submitter WDR19-related disorder
p.Ala914Asp Single submitter Senior-Loken syndrome 8
p.Arg477Leu Single submitter WDR19-related disorder ⚠
p.Asp1242fs Single submitter cranioectodermal dysplasia 4
p.Cys1267fs Single submitter cranioectodermal dysplasia 4
p.Cys1267Tyr Single submitter Senior-Loken syndrome 8
p.Gln861Ter Single submitter
p.Gln91Ter Single submitter WDR19-related disorder
p.Gln949Ter Single submitter cranioectodermal dysplasia 4
p.Gln963Ter Single submitter cranioectodermal dysplasia 4
p.Glu1146Ter Single submitter cranioectodermal dysplasia 4
p.Glu1235Ter Single submitter WDR19-related disorder
p.Glu947fs Single submitter WDR19-related disorder
p.Gly119Ter Single submitter cranioectodermal dysplasia 4
p.Gly243Val Single submitter ⚠
p.Gly248Ser Single submitter
p.Gly495Asp Single submitter asphyxiating thoracic dystrophy 5
p.His481Arg Single submitter nephronophthisis 13 ⚠
p.Ile478fs Single submitter WDR19-related disorder
p.Ile944fs Single submitter
p.Leu155_Gly156delinsTer Single submitter WDR19-related disorder
p.Leu206Pro Single submitter ⚠
p.Leu529Ter Single submitter cranioectodermal dysplasia 4
p.Leu641Ter Single submitter WDR19-related disorder
p.Leu835fs Single submitter WDR19-related disorder
p.Lys1028fs Single submitter cranioectodermal dysplasia 4
p.Phe249Ser Single submitter WDR19-related disorder
p.Ser1138fs Single submitter WDR19-related disorder
p.Thr383fs Single submitter cranioectodermal dysplasia 4
p.Thr557Pro Single submitter retinitis pigmentosa ⚠
p.Trp62Ter Single submitter cranioectodermal dysplasia 4
p.Trp666Ter Single submitter WDR19-related disorder
p.Tyr1023fs Single submitter cranioectodermal dysplasia 4
p.Tyr490Cys Single submitter WDR19-related disorder ⚠
p.Tyr798fs Single submitter cranioectodermal dysplasia 4
p.Val831fs Single submitter cranioectodermal dysplasia 4

Conflicting classifications of pathogenicity 68

c.1249+9A>G Single submitter connective tissue disorder
c.1357-7G>A Single submitter asphyxiating thoracic dystrophy 5
c.164+12A>G Single submitter cranioectodermal dysplasia 4
c.1982+5G>A Single submitter WDR19-related disorder
c.2364-15_2364-14del Single submitter asphyxiating thoracic dystrophy 5
c.2364-15T>C Single submitter asphyxiating thoracic dystrophy 5
c.2364-3del Single submitter asphyxiating thoracic dystrophy 5
c.2730-10T>A Single submitter Senior-Loken syndrome 8
c.2877-17A>G Single submitter Senior-Loken syndrome 8
c.3358+15C>T Single submitter asphyxiating thoracic dystrophy 5
c.3359-11C>T Single submitter asphyxiating thoracic dystrophy 5
c.3483+11T>C Single submitter cranioectodermal dysplasia 4
c.3483+19C>G Single submitter asphyxiating thoracic dystrophy 5
c.3484-15T>C Single submitter cranioectodermal dysplasia 4
c.3918-6A>C Single submitter Senior-Loken syndrome 8
c.523-3T>C Single submitter asphyxiating thoracic dystrophy 5
c.6+5A>G Single submitter asphyxiating thoracic dystrophy 5
c.604-5_604-4del Single submitter Senior-Loken syndrome 8
p.Ala1014= Single submitter cranioectodermal dysplasia 4
p.Ala654Thr Single submitter cranioectodermal dysplasia 4 ⚠
p.Ala788Thr Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala796Thr Single submitter cranioectodermal dysplasia 4 ⚠
p.Ala859= Single submitter asphyxiating thoracic dystrophy 5
p.Arg1103Gln Single submitter Inborn genetic diseases ⚠
p.Arg1178Trp Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Arg1223Cys Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Arg467Gln Single submitter Inborn genetic diseases ⚠
p.Arg929Cys Single submitter WDR19-related disorder ⚠
p.Asn391= Single submitter asphyxiating thoracic dystrophy 5
p.Asn416= Single submitter spermatogenic failure 72
p.Asn615= Single submitter Senior-Loken syndrome 8
p.Asp1083= Single submitter connective tissue disorder
p.Asp493His Single submitter nephronophthisis 13 ⚠
p.Asp870Asn Single submitter cranioectodermal dysplasia 4
p.Gln592Arg Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Glu1003Gly Single submitter connective tissue disorder ⚠
p.Glu456Lys Single submitter spermatogenic failure 72 ⚠
p.Gly1172Glu Single submitter ciliopathy ⚠
p.Gly1236Glu Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Gly789Ser Single submitter Inborn genetic diseases ⚠
p.His274= Single submitter asphyxiating thoracic dystrophy 5
p.His344Asp Single submitter asphyxiating thoracic dystrophy 5
p.His891Tyr Single submitter Inborn genetic diseases ⚠
p.Ile1306= Single submitter asphyxiating thoracic dystrophy 5
p.Ile520Thr Single submitter nephronophthisis 13 ⚠
p.Ile747Val Single submitter Senior-Loken syndrome 8 ⚠
p.Ile822Val Single submitter Senior-Loken syndrome 8 ⚠
p.Ile928Phe Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Leu1095= Single submitter asphyxiating thoracic dystrophy 5
p.Leu400= Single submitter asphyxiating thoracic dystrophy 5
p.Leu613= Single submitter asphyxiating thoracic dystrophy 5
p.Leu964Pro Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Lys905= Single submitter Senior-Loken syndrome 8
p.Phe787= Single submitter asphyxiating thoracic dystrophy 5
p.Pro1241= Single submitter asphyxiating thoracic dystrophy 5
p.Pro522= Single submitter asphyxiating thoracic dystrophy 5
p.Pro543= Single submitter asphyxiating thoracic dystrophy 5
p.Ser250Pro Single submitter WDR19-related disorder ⚠
p.Ser926Ile Single submitter spermatogenic failure 72 ⚠
p.Thr1290Met Single submitter Senior-Loken syndrome 8 ⚠
p.Thr1338= Single submitter nephronophthisis 13
p.Thr583= Single submitter asphyxiating thoracic dystrophy 5
p.Thr644= Single submitter asphyxiating thoracic dystrophy 5
p.Tyr310Cys Single submitter Inborn genetic diseases ⚠
p.Tyr901Cys Single submitter connective tissue disorder ⚠
p.Tyr931Ser Single submitter connective tissue disorder ⚠
p.Val164Ile Single submitter spermatogenic failure 72 ⚠
p.Val697Phe Single submitter Inborn genetic diseases ⚠

Benign 49

c.1357-10T>C Multiple submitters Senior-Loken syndrome 8
c.1629+76A>G Multiple submitters
c.1630-59G>A Multiple submitters
c.2253+59A>G Multiple submitters
c.2253+85G>A Multiple submitters
c.2421+157C>A Multiple submitters
c.2877-30A>G Multiple submitters
c.290+115C>T Multiple submitters
c.3114+62A>G Multiple submitters
c.3183+16A>G Multiple submitters asphyxiating thoracic dystrophy 5
c.3183+188G>T Multiple submitters
c.3359-55A>G Multiple submitters
c.3841-27T>C Multiple submitters cranioectodermal dysplasia 4
c.3917+80A>G Multiple submitters
c.406+128C>T Multiple submitters
c.603+23C>T Multiple submitters nephronophthisis 13
c.890+177A>G Multiple submitters
c.962-109A>G Multiple submitters
c.98+85G>T Multiple submitters
c.-9A>G Multiple submitters Senior-Loken syndrome 8
c.*229C>T Multiple submitters cranioectodermal dysplasia 4
p.Arg699Gln Multiple submitters Senior-Loken syndrome 8 ⚠
p.Cys297= Multiple submitters asphyxiating thoracic dystrophy 5
p.Gly1084Ser Multiple submitters Senior-Loken syndrome 8
p.Ser284= Multiple submitters asphyxiating thoracic dystrophy 5
p.Ser536Thr Multiple submitters Senior-Loken syndrome 8
c.1250-185G>T Single submitter
c.1480-18A>G Single submitter asphyxiating thoracic dystrophy 5
c.1480-3del Single submitter
c.165-6dup Single submitter Senior-Loken syndrome 8
c.2364-5_2364-4del Single submitter asphyxiating thoracic dystrophy 5
c.2422-166A>T Single submitter
c.2730-129G>A Single submitter
c.2730-5del Single submitter asphyxiating thoracic dystrophy 5
c.2730-5dup Single submitter asphyxiating thoracic dystrophy 5
c.2877-157T>A Single submitter
c.290+226T>C Single submitter
c.291-177A>G Single submitter
c.291-37C>T Single submitter
c.3001+16del Single submitter Senior-Loken syndrome 8
c.3114+59_3114+90dup Single submitter
c.3115-47T>C Single submitter
c.3483+193T>C Single submitter
c.3566-10del Single submitter asphyxiating thoracic dystrophy 5
c.3716+46dup Single submitter asphyxiating thoracic dystrophy 5
c.3841-64dup Single submitter
c.7-196G>C Single submitter
c.962-172T>C Single submitter
c.98+85del Single submitter

Benign/Likely benign 15

c.1135-18C>G Multiple submitters Senior-Loken syndrome 8
c.13+15G>A Multiple submitters cranioectodermal dysplasia 4
c.2142+12G>A Multiple submitters asphyxiating thoracic dystrophy 5
c.2364-4del Multiple submitters Senior-Loken syndrome 8
c.2364-4dup Multiple submitters asphyxiating thoracic dystrophy 5
c.3183+9G>A Multiple submitters connective tissue disorder
c.3261+12G>A Multiple submitters Senior-Loken syndrome 8
c.3261+20C>T Multiple submitters asphyxiating thoracic dystrophy 5
c.890+23del Multiple submitters asphyxiating thoracic dystrophy 5
p.Asp1009= Multiple submitters cranioectodermal dysplasia 4
p.Gln1139Arg Multiple submitters asphyxiating thoracic dystrophy 5
p.Ile532Thr Multiple submitters Senior-Loken syndrome 8 ⚠
p.Pro1241Leu Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ser639Gly Multiple submitters asphyxiating thoracic dystrophy 5
p.Val304Ile Multiple submitters asphyxiating thoracic dystrophy 5

Likely benign 446

Showing the top 300 by review status; the full set is in the sitemap.

c.1134+13T>G Multiple submitters asphyxiating thoracic dystrophy 5
c.1357-13C>A Multiple submitters Senior-Loken syndrome 8
c.1357-8C>T Multiple submitters cranioectodermal dysplasia 4
c.1629+13C>A Multiple submitters Senior-Loken syndrome 8
c.1777+12C>T Multiple submitters asphyxiating thoracic dystrophy 5
c.2363+11G>C Multiple submitters Senior-Loken syndrome 8
c.2363+7C>T Multiple submitters asphyxiating thoracic dystrophy 5
c.2364-14T>A Multiple submitters asphyxiating thoracic dystrophy 5
c.2364-16_2364-15del Multiple submitters asphyxiating thoracic dystrophy 5
c.2422-15G>A Multiple submitters asphyxiating thoracic dystrophy 5
c.2563-15C>T Multiple submitters asphyxiating thoracic dystrophy 5
c.2645+15C>T Multiple submitters Senior-Loken syndrome 8
c.2645+16G>A Multiple submitters asphyxiating thoracic dystrophy 5
c.2646-16G>T Multiple submitters spermatogenic failure 72
c.2646-5T>C Multiple submitters Senior-Loken syndrome 8
c.2729+9A>G Multiple submitters Senior-Loken syndrome 8
c.2730-17G>C Multiple submitters asphyxiating thoracic dystrophy 5
c.2876+10T>A Multiple submitters Senior-Loken syndrome 8
c.2876+10T>C Multiple submitters nephronophthisis 13
c.2877-12A>G Multiple submitters spermatogenic failure 72
c.3114+13C>T Multiple submitters Senior-Loken syndrome 8
c.3184-14C>T Multiple submitters Senior-Loken syndrome 8
c.3261+11C>T Multiple submitters asphyxiating thoracic dystrophy 5
c.3358+14A>G Multiple submitters asphyxiating thoracic dystrophy 5
c.3358+16G>A Multiple submitters asphyxiating thoracic dystrophy 5
c.3359-8T>G Multiple submitters asphyxiating thoracic dystrophy 5
c.3716+13G>A Multiple submitters spermatogenic failure 72
c.3841-15A>C Multiple submitters asphyxiating thoracic dystrophy 5
c.3841-15A>G Multiple submitters Senior-Loken syndrome 8
c.3917+15C>T Multiple submitters Senior-Loken syndrome 8
c.522+13C>T Multiple submitters spermatogenic failure 72
c.522+14G>A Multiple submitters asphyxiating thoracic dystrophy 5
c.522+9G>A Multiple submitters asphyxiating thoracic dystrophy 5
c.6+6_6+8del Multiple submitters nephronophthisis 13
c.717-11C>G Multiple submitters Senior-Loken syndrome 8
c.890+19T>A Multiple submitters Senior-Loken syndrome 8
c.962-11G>A Multiple submitters asphyxiating thoracic dystrophy 5
c.962-12C>T Multiple submitters asphyxiating thoracic dystrophy 5
c.98+14G>T Multiple submitters asphyxiating thoracic dystrophy 5
c.99-11A>C Multiple submitters spermatogenic failure 72
c.99-12G>C Multiple submitters asphyxiating thoracic dystrophy 5
c.-15G>T Multiple submitters cranioectodermal dysplasia 4
p.Ala1228= Multiple submitters Senior-Loken syndrome 8
p.Ala599= Multiple submitters asphyxiating thoracic dystrophy 5
p.Ala654= Multiple submitters spermatogenic failure 72
p.Ala749= Multiple submitters asphyxiating thoracic dystrophy 5
p.Ala818= Multiple submitters asphyxiating thoracic dystrophy 5
p.Ala902= Multiple submitters asphyxiating thoracic dystrophy 5
p.Ala914= Multiple submitters asphyxiating thoracic dystrophy 5
p.Arg1123= Multiple submitters asphyxiating thoracic dystrophy 5
p.Asn1082= Multiple submitters asphyxiating thoracic dystrophy 5
p.Asn1208= Multiple submitters cranioectodermal dysplasia 4
p.Asp546= Multiple submitters asphyxiating thoracic dystrophy 5
p.Cys1314= Multiple submitters asphyxiating thoracic dystrophy 5
p.Cys1317= Multiple submitters Senior-Loken syndrome 8
p.Cys685= Multiple submitters Senior-Loken syndrome 8
p.Gln1025= Multiple submitters asphyxiating thoracic dystrophy 5
p.Gln1101= Multiple submitters Senior-Loken syndrome 8
p.Glu717= Multiple submitters asphyxiating thoracic dystrophy 5
p.Gly1205= Multiple submitters asphyxiating thoracic dystrophy 5
p.Gly14= Multiple submitters spermatogenic failure 72
p.Gly331= Multiple submitters asphyxiating thoracic dystrophy 5
p.His758= Multiple submitters Senior-Loken syndrome 8
p.His891= Multiple submitters asphyxiating thoracic dystrophy 5
p.Ile597= Multiple submitters asphyxiating thoracic dystrophy 5
p.Ile671= Multiple submitters asphyxiating thoracic dystrophy 5
p.Leu450= Multiple submitters asphyxiating thoracic dystrophy 5
p.Leu750= Multiple submitters asphyxiating thoracic dystrophy 5
p.Lys1090Gln Multiple submitters asphyxiating thoracic dystrophy 5
p.Lys1185= Multiple submitters asphyxiating thoracic dystrophy 5
p.Lys47= Multiple submitters Senior-Loken syndrome 8
p.Lys922= Multiple submitters asphyxiating thoracic dystrophy 5
p.Phe1213= Multiple submitters Senior-Loken syndrome 8
p.Phe507= Multiple submitters Senior-Loken syndrome 8
p.Pro1254= Multiple submitters asphyxiating thoracic dystrophy 5
p.Ser1049= Multiple submitters Senior-Loken syndrome 8
p.Ser1145= Multiple submitters asphyxiating thoracic dystrophy 5
p.Ser455= Multiple submitters asphyxiating thoracic dystrophy 5
p.Ser76= Multiple submitters asphyxiating thoracic dystrophy 5
p.Thr171= Multiple submitters cranioectodermal dysplasia 4
p.Thr261= Multiple submitters asphyxiating thoracic dystrophy 5
p.Thr371= Multiple submitters asphyxiating thoracic dystrophy 5
p.Tyr1096= Multiple submitters asphyxiating thoracic dystrophy 5
p.Tyr582= Multiple submitters asphyxiating thoracic dystrophy 5
p.Tyr584= Multiple submitters spermatogenic failure 72
p.Tyr869= Multiple submitters asphyxiating thoracic dystrophy 5
p.Val255= Multiple submitters asphyxiating thoracic dystrophy 5
p.Val627= Multiple submitters Senior-Loken syndrome 8
c.1134+16T>C Single submitter Senior-Loken syndrome 8
c.1134+17A>C Single submitter
c.1135-11C>G Single submitter Senior-Loken syndrome 8
c.1135-18C>T Single submitter Senior-Loken syndrome 8
c.1135-20T>C Single submitter Senior-Loken syndrome 8
c.1249+16G>A Single submitter asphyxiating thoracic dystrophy 5
c.1249+19G>T Single submitter asphyxiating thoracic dystrophy 5
c.1249+9A>C Single submitter asphyxiating thoracic dystrophy 5
c.1250-15T>C Single submitter asphyxiating thoracic dystrophy 5
c.1250-8T>C Single submitter Senior-Loken syndrome 8
c.1356+11T>G Single submitter Senior-Loken syndrome 8
c.1356+18G>A Single submitter asphyxiating thoracic dystrophy 5
c.1356+8T>C Single submitter asphyxiating thoracic dystrophy 5
c.1357-19A>G Single submitter
c.1357-20T>C Single submitter asphyxiating thoracic dystrophy 5
c.1479+15C>G Single submitter Senior-Loken syndrome 8
c.1479+15C>T Single submitter asphyxiating thoracic dystrophy 5
c.1479+17T>A Single submitter asphyxiating thoracic dystrophy 5
c.1479+17T>C Single submitter asphyxiating thoracic dystrophy 5
c.1480-3dup Single submitter
c.1480-4_1480-3del Single submitter
c.1629+13C>T Single submitter Senior-Loken syndrome 8
c.1630-9A>G Single submitter asphyxiating thoracic dystrophy 5
c.164+20_164+32del Single submitter asphyxiating thoracic dystrophy 5
c.164+20T>G Single submitter Senior-Loken syndrome 8
c.165-15T>C Single submitter asphyxiating thoracic dystrophy 5
c.165-17G>C Single submitter Senior-Loken syndrome 8
c.165-6T>A Single submitter asphyxiating thoracic dystrophy 5
c.1777+18T>A Single submitter asphyxiating thoracic dystrophy 5
c.1777+8A>G Single submitter asphyxiating thoracic dystrophy 5
c.1777+9C>A Single submitter asphyxiating thoracic dystrophy 5
c.1778-11T>C Single submitter Senior-Loken syndrome 8
c.1778-4G>A Single submitter Senior-Loken syndrome 8
c.1778-5T>C Single submitter Senior-Loken syndrome 8
c.1982+14C>T Single submitter asphyxiating thoracic dystrophy 5
c.1982+15A>G Single submitter asphyxiating thoracic dystrophy 5
c.1983-10T>C Single submitter Senior-Loken syndrome 8
c.1983-11T>C Single submitter asphyxiating thoracic dystrophy 5
c.1983-15G>A Single submitter asphyxiating thoracic dystrophy 5
c.1983-16T>C Single submitter Senior-Loken syndrome 8
c.1983-18T>C Single submitter asphyxiating thoracic dystrophy 5
c.1983-8_1983-7delinsAT Single submitter Senior-Loken syndrome 8
c.2142+15A>G Single submitter Senior-Loken syndrome 8
c.2142+16T>C Single submitter asphyxiating thoracic dystrophy 5
c.2142+8G>C Single submitter asphyxiating thoracic dystrophy 5
c.2254-14T>G Single submitter asphyxiating thoracic dystrophy 5
c.2254-19G>T Single submitter asphyxiating thoracic dystrophy 5
c.2363+15T>G Single submitter Senior-Loken syndrome 8
c.2364-11T>A Single submitter Senior-Loken syndrome 8
c.2364-13del Single submitter Senior-Loken syndrome 8
c.2364-16C>G Single submitter asphyxiating thoracic dystrophy 5
c.2364-16C>T Single submitter Senior-Loken syndrome 8
c.2364-17T>C Single submitter Senior-Loken syndrome 8
c.2364-17T>G Single submitter Senior-Loken syndrome 8
c.2364-18C>G Single submitter Senior-Loken syndrome 8
c.2364-9T>G Single submitter Senior-Loken syndrome 8
c.2421+10G>C Single submitter Senior-Loken syndrome 8
c.2421+5C>G Single submitter
c.2422-13C>T Single submitter Senior-Loken syndrome 8
c.2562+5T>A Single submitter
c.2563-11T>C Single submitter Senior-Loken syndrome 8
c.2563-13T>G Single submitter asphyxiating thoracic dystrophy 5
c.2563-6T>C Single submitter asphyxiating thoracic dystrophy 5
c.2645+15C>G Single submitter Senior-Loken syndrome 8
c.2646-15G>A Single submitter asphyxiating thoracic dystrophy 5
c.2646-8C>T Single submitter Senior-Loken syndrome 8
c.2729+24_2729+33del Single submitter asphyxiating thoracic dystrophy 5
c.2730-11T>C Single submitter asphyxiating thoracic dystrophy 5
c.2730-12A>G Single submitter Senior-Loken syndrome 8
c.2730-18T>A Single submitter asphyxiating thoracic dystrophy 5
c.2730-9T>G Single submitter
c.2876+12C>T Single submitter Senior-Loken syndrome 8
c.2876+7_2876+8del Single submitter Senior-Loken syndrome 8
c.2876+8A>G Single submitter Senior-Loken syndrome 8
c.2877-13T>G Single submitter Senior-Loken syndrome 8
c.290+20T>G Single submitter Senior-Loken syndrome 8
c.291-11T>C Single submitter asphyxiating thoracic dystrophy 5
c.291-17A>G Single submitter Senior-Loken syndrome 8
c.3001+15_3001+16del Single submitter asphyxiating thoracic dystrophy 5
c.3001+17C>G Single submitter Senior-Loken syndrome 8
c.3002-17G>A Single submitter asphyxiating thoracic dystrophy 5
c.3002-7G>T Single submitter Senior-Loken syndrome 8
c.3114+10T>C Single submitter Senior-Loken syndrome 8
c.3114+15A>T Single submitter Senior-Loken syndrome 8
c.3115-10C>T Single submitter asphyxiating thoracic dystrophy 5
c.3115-17T>C Single submitter Senior-Loken syndrome 8
c.3115-8C>T Single submitter Senior-Loken syndrome 8
c.3183+19A>C Single submitter Senior-Loken syndrome 8
c.3183+8C>T Single submitter Senior-Loken syndrome 8
c.3184-11T>C Single submitter asphyxiating thoracic dystrophy 5
c.3184-14C>G Single submitter Senior-Loken syndrome 8
c.3184-16dup Single submitter Senior-Loken syndrome 8
c.3184-17TC[2] Single submitter asphyxiating thoracic dystrophy 5
c.3184-7T>C Single submitter Senior-Loken syndrome 8
c.3261+15G>A Single submitter asphyxiating thoracic dystrophy 5
c.3261+17C>T Single submitter asphyxiating thoracic dystrophy 5
c.3262-19A>G Single submitter Senior-Loken syndrome 8
c.3262-6T>C Single submitter asphyxiating thoracic dystrophy 5
c.3262-7G>A Single submitter Senior-Loken syndrome 8
c.3358+15C>A Single submitter asphyxiating thoracic dystrophy 5
c.3358+15C>G Single submitter Senior-Loken syndrome 8
c.3358+16G>C Single submitter Senior-Loken syndrome 8
c.3358+17dup Single submitter Senior-Loken syndrome 8
c.3358+18_3358+19del Single submitter Senior-Loken syndrome 8
c.3358+18A>T Single submitter Senior-Loken syndrome 8
c.3358+19T>C Single submitter asphyxiating thoracic dystrophy 5
c.3358+20del Single submitter asphyxiating thoracic dystrophy 5
c.3358+8C>T Single submitter Senior-Loken syndrome 8
c.3358+9G>A Single submitter asphyxiating thoracic dystrophy 5
c.3359-13A>T Single submitter asphyxiating thoracic dystrophy 5
c.3359-6T>C Single submitter Senior-Loken syndrome 8
c.3483+10A>G Single submitter Senior-Loken syndrome 8
c.3483+14A>C Single submitter asphyxiating thoracic dystrophy 5
c.3484-16A>G Single submitter Senior-Loken syndrome 8
c.3565+15C>T Single submitter asphyxiating thoracic dystrophy 5
c.3565+16C>T Single submitter asphyxiating thoracic dystrophy 5
c.3565+17A>G Single submitter Senior-Loken syndrome 8
c.3566-17C>G Single submitter asphyxiating thoracic dystrophy 5
c.3566-9C>T Single submitter Senior-Loken syndrome 8
c.3716+17A>G Single submitter Senior-Loken syndrome 8
c.3717-15G>A Single submitter asphyxiating thoracic dystrophy 5
c.3717-17A>G Single submitter Senior-Loken syndrome 8
c.3717-5C>T Single submitter asphyxiating thoracic dystrophy 5
c.3840+13A>G Single submitter Senior-Loken syndrome 8
c.3841-13A>T Single submitter Senior-Loken syndrome 8
c.3841-4C>G Single submitter Senior-Loken syndrome 8
c.3917+9G>A Single submitter asphyxiating thoracic dystrophy 5
c.3918-11C>T Single submitter Senior-Loken syndrome 8
c.3918-15C>T Single submitter Senior-Loken syndrome 8
c.3918-17T>G Single submitter Senior-Loken syndrome 8
c.3918-19del Single submitter asphyxiating thoracic dystrophy 5
c.3918-8del Single submitter Senior-Loken syndrome 8
c.406+12C>T Single submitter asphyxiating thoracic dystrophy 5
c.406+14G>A Single submitter Senior-Loken syndrome 8
c.406+16A>C Single submitter
c.406+20A>G Single submitter Senior-Loken syndrome 8
c.407-5_407-4del Single submitter asphyxiating thoracic dystrophy 5
c.522+10T>C Single submitter Senior-Loken syndrome 8
c.522+13C>A Single submitter Senior-Loken syndrome 8
c.522+6A>G Single submitter
c.522+7C>T Single submitter Senior-Loken syndrome 8
c.523-12T>C Single submitter asphyxiating thoracic dystrophy 5
c.523-18A>G Single submitter Senior-Loken syndrome 8
c.523-19G>A Single submitter asphyxiating thoracic dystrophy 5
c.6+11T>A Single submitter asphyxiating thoracic dystrophy 5
c.6+16A>C Single submitter
c.6+16A>G Single submitter Senior-Loken syndrome 8
c.6+17T>C Single submitter asphyxiating thoracic dystrophy 5
c.6+20C>T Single submitter Senior-Loken syndrome 8
c.6+9C>T Single submitter asphyxiating thoracic dystrophy 5
c.603+15C>G Single submitter asphyxiating thoracic dystrophy 5
c.603+17A>C Single submitter asphyxiating thoracic dystrophy 5
c.603+17A>G Single submitter asphyxiating thoracic dystrophy 5
c.603+20C>G Single submitter Senior-Loken syndrome 8
c.603+20C>T Single submitter Senior-Loken syndrome 8
c.603+9T>G Single submitter asphyxiating thoracic dystrophy 5
c.604-10T>C Single submitter asphyxiating thoracic dystrophy 5
c.604-12del Single submitter asphyxiating thoracic dystrophy 5
c.604-19T>C Single submitter asphyxiating thoracic dystrophy 5
c.604-20C>G Single submitter Senior-Loken syndrome 8
c.7-20A>C Single submitter asphyxiating thoracic dystrophy 5
c.7-5T>C Single submitter Senior-Loken syndrome 8
c.7-7T>A Single submitter asphyxiating thoracic dystrophy 5
c.7-9del Single submitter asphyxiating thoracic dystrophy 5
c.716+12A>G Single submitter asphyxiating thoracic dystrophy 5
c.717-13T>G Single submitter asphyxiating thoracic dystrophy 5
c.717-19G>T Single submitter Senior-Loken syndrome 8
c.717-4A>G Single submitter Senior-Loken syndrome 8
c.890+10T>A Single submitter asphyxiating thoracic dystrophy 5
c.891-16C>G Single submitter Senior-Loken syndrome 8
c.891-19A>G Single submitter asphyxiating thoracic dystrophy 5
c.891-5T>C Single submitter asphyxiating thoracic dystrophy 5
c.891-9G>C Single submitter asphyxiating thoracic dystrophy 5
c.961+102A>T Single submitter
c.961+7A>C Single submitter
c.961+88T>C Single submitter asphyxiating thoracic dystrophy 5
c.962-12C>G Single submitter Senior-Loken syndrome 8
c.962-7A>G Single submitter asphyxiating thoracic dystrophy 5
c.98+10C>T Single submitter asphyxiating thoracic dystrophy 5
c.99-11A>G Single submitter asphyxiating thoracic dystrophy 5
c.99-15T>C Single submitter Senior-Loken syndrome 8
c.99-16T>A Single submitter Senior-Loken syndrome 8
p.Ala1054= Single submitter Senior-Loken syndrome 8
p.Ala1109= Single submitter Senior-Loken syndrome 8
p.Ala1125= Single submitter
p.Ala1210= Single submitter asphyxiating thoracic dystrophy 5
p.Ala149= Single submitter asphyxiating thoracic dystrophy 5
p.Ala154= Single submitter asphyxiating thoracic dystrophy 5
p.Ala362= Single submitter asphyxiating thoracic dystrophy 5
p.Ala441= Single submitter Senior-Loken syndrome 8
p.Ala442= Single submitter asphyxiating thoracic dystrophy 5
p.Ala460= Single submitter Senior-Loken syndrome 8
p.Ala482= Single submitter Senior-Loken syndrome 8
p.Ala594= Single submitter Senior-Loken syndrome 8
p.Ala677= Single submitter asphyxiating thoracic dystrophy 5
p.Ala73= Single submitter asphyxiating thoracic dystrophy 5
p.Ala766= Single submitter asphyxiating thoracic dystrophy 5
p.Ala782= Single submitter Senior-Loken syndrome 8
p.Ala84= Single submitter Senior-Loken syndrome 8
p.Ala941= Single submitter Senior-Loken syndrome 8
p.Arg1114= Single submitter
p.Arg1203= Single submitter asphyxiating thoracic dystrophy 5
p.Arg477= Single submitter asphyxiating thoracic dystrophy 5
p.Arg699= Single submitter asphyxiating thoracic dystrophy 5
p.Arg754= Single submitter asphyxiating thoracic dystrophy 5
p.Asn1072= Single submitter Senior-Loken syndrome 8
p.Asn1072Ser Single submitter Inborn genetic diseases
p.Asn1322= Single submitter asphyxiating thoracic dystrophy 5
p.Asn166= Single submitter Senior-Loken syndrome 8
p.Asn27= Single submitter asphyxiating thoracic dystrophy 5
p.Asn374= Single submitter asphyxiating thoracic dystrophy 5
p.Asn545= Single submitter asphyxiating thoracic dystrophy 5

Uncertain significance 660

Showing the top 300 by review status; the full set is in the sitemap.

c.2421+5C>A Multiple submitters spermatogenic failure 72
c.3114+3T>C Multiple submitters spermatogenic failure 72
c.3114+4A>G Multiple submitters Senior-Loken syndrome 8
c.3184-3C>T Multiple submitters asphyxiating thoracic dystrophy 5
c.3358+3A>G Multiple submitters Senior-Loken syndrome 8
c.3483+5G>A Multiple submitters WDR19-related disorder
c.3566-6T>A Multiple submitters asphyxiating thoracic dystrophy 5
c.6+3A>G Multiple submitters asphyxiating thoracic dystrophy 5
p.Ala1148Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1214Thr Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ala1228Gly Multiple submitters WDR19-related disorder ⚠
p.Ala1323Thr Multiple submitters spermatogenic failure 72 ⚠
p.Ala198Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala356Thr Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ala373Gly Multiple submitters spermatogenic failure 72 ⚠
p.Ala547Thr Multiple submitters Senior-Loken syndrome 8 ⚠
p.Ala599Val Multiple submitters Inborn genetic diseases ⚠
p.Ala665Pro Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ala665Val Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ala762Val Multiple submitters Senior-Loken syndrome 8 ⚠
p.Ala873Val Multiple submitters spermatogenic failure 72 ⚠
p.Ala904Thr Multiple submitters asphyxiating thoracic dystrophy 5
p.Ala907Val Multiple submitters Senior-Loken syndrome 8 ⚠
p.Ala958Pro Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ala958Thr Multiple submitters spermatogenic failure 72 ⚠
p.Ala970Val Multiple submitters Senior-Loken syndrome 8 ⚠
p.Ala983Val Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Arg1038Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1094Cys Multiple submitters nephronophthisis 13 ⚠
p.Arg1094His Multiple submitters spermatogenic failure 72 ⚠
p.Arg1123Gln Multiple submitters cranioectodermal dysplasia 4 ⚠
p.Arg1123Trp Multiple submitters nephronophthisis 13 ⚠
p.Arg1174Cys Multiple submitters nephronophthisis 13 ⚠
p.Arg1174His Multiple submitters Senior-Loken syndrome 8 ⚠
p.Arg1174Leu Multiple submitters Senior-Loken syndrome 8 ⚠
p.Arg1223His Multiple submitters Inborn genetic diseases ⚠
p.Arg130Gln Multiple submitters Senior-Loken syndrome 8 ⚠
p.Arg1337Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1337Ter Multiple submitters Senior-Loken syndrome 8
p.Arg272Cys Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Arg3His Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Arg43His Multiple submitters asphyxiating thoracic dystrophy 5
p.Arg464Cys Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Arg464His Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Arg477His Multiple submitters Senior-Loken syndrome 8 ⚠
p.Arg512Gln Multiple submitters spermatogenic failure 72 ⚠
p.Arg696His Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Arg699Trp Multiple submitters nephronophthisis 13 ⚠
p.Arg829Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg878Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg878His Multiple submitters Inborn genetic diseases ⚠
p.Arg929His Multiple submitters Inborn genetic diseases ⚠
p.Arg929Pro Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asn1121Ser Multiple submitters Senior-Loken syndrome 8 ⚠
p.Asn1182Ser Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asn125His Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asn319Ser Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asn391Ser Multiple submitters spermatogenic failure 72 ⚠
p.Asn406Ser Multiple submitters Senior-Loken syndrome 8 ⚠
p.Asn673Ser Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asn720Ser Multiple submitters connective tissue disorder ⚠
p.Asn793Asp Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asn793Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn943Ser Multiple submitters cranioectodermal dysplasia 4 ⚠
p.Asn991Ser Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp1051Tyr Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp1083Asn Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp1127Asn Multiple submitters Senior-Loken syndrome 8 ⚠
p.Asp1168Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1227Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1331Glu Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp230Ala Multiple submitters WDR19-related disorder ⚠
p.Asp355Val Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp438Glu Multiple submitters nephronophthisis 13 ⚠
p.Asp493= Multiple submitters asphyxiating thoracic dystrophy 5
p.Asp523Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp578Asn Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp578Glu Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp67Gly Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp732Asn Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp738Val Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp810Glu Multiple submitters cranioectodermal dysplasia 4 ⚠
p.Asp810Gly Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Asp98Tyr Multiple submitters WDR19-related disorder ⚠
p.Cys1270Ser Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Cys1292Arg Multiple submitters cranioectodermal dysplasia 4 ⚠
p.Cys1292Phe Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Gln185Glu Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Gln339Arg Multiple submitters Senior-Loken syndrome 8 ⚠
p.Gln592Leu Multiple submitters Senior-Loken syndrome 8 ⚠
p.Gln764His Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Gln819Lys Multiple submitters Senior-Loken syndrome 8 ⚠
p.Glu1060Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1146Lys Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Glu1262Lys Multiple submitters cranioectodermal dysplasia 4 ⚠
p.Glu318Lys Multiple submitters nephronophthisis 13 ⚠
p.Glu463Gly Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Glu648Lys Multiple submitters Senior-Loken syndrome 8 ⚠
p.Glu751Asp Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Glu982Gly Multiple submitters Inborn genetic diseases ⚠
p.Gly1063Asp Multiple submitters Senior-Loken syndrome 8 ⚠
p.Gly1084Val Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Gly109Glu Multiple submitters Senior-Loken syndrome 8 ⚠
p.Gly115Arg Multiple submitters Senior-Loken syndrome 8 ⚠
p.Gly1167Val Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Gly156Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly262Glu Multiple submitters spermatogenic failure 72 ⚠
p.Gly526Arg Multiple submitters Senior-Loken syndrome 8 ⚠
p.Gly866Asp Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.His1155Pro Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.His1189Tyr Multiple submitters spermatogenic failure 72 ⚠
p.His260Tyr Multiple submitters cranioectodermal dysplasia 4 ⚠
p.His274Arg Multiple submitters nephronophthisis 13 ⚠
p.His451Arg Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.His513Asn Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.His635Arg Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.His687Tyr Multiple submitters spermatogenic failure 72 ⚠
p.His758Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile1158Met Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ile1193Met Multiple submitters spermatogenic failure 72
p.Ile1234Met Multiple submitters Senior-Loken syndrome 8 ⚠
p.Ile268Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile281Thr Multiple submitters spermatogenic failure 72 ⚠
p.Ile502Thr Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ile558Thr Multiple submitters Senior-Loken syndrome 8 ⚠
p.Ile591Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile716Val Multiple submitters Senior-Loken syndrome 8 ⚠
p.Ile774Leu Multiple submitters spermatogenic failure 72 ⚠
p.Ile774Val Multiple submitters Senior-Loken syndrome 8 ⚠
p.Ile777Val Multiple submitters Inborn genetic diseases ⚠
p.Ile783Val Multiple submitters Inborn genetic diseases ⚠
p.Ile822Leu Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ile897Met Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Leu1078Phe Multiple submitters Senior-Loken syndrome 8 ⚠
p.Leu1259Ile Multiple submitters cranioectodermal dysplasia 4 ⚠
p.Leu135Pro Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Leu367Val Multiple submitters asphyxiating thoracic dystrophy 5
p.Leu488Phe Multiple submitters cone dystrophy ⚠
p.Lys1171Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys1185Gln Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Lys137Arg Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Lys160Arg Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Met1147Val Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Met1170Thr Multiple submitters Inborn genetic diseases ⚠
p.Met1216Val Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Met1284Thr Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Met246Ile Multiple submitters Inborn genetic diseases ⚠
p.Met652Ile Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Met652Val Multiple submitters Inborn genetic diseases ⚠
p.Met689Thr Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Met96Ile Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Phe1017Val Multiple submitters Senior-Loken syndrome 8 ⚠
p.Phe19Cys Multiple submitters Jeune syndrome ⚠
p.Pro1047Gln Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Pro1047Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1220Leu Multiple submitters spermatogenic failure 72 ⚠
p.Pro1275Ala Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Pro222Ala Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Pro390Thr Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Pro651Ala Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Pro890Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser101Tyr Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ser1049Leu Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ser1145Phe Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ser326Cys Multiple submitters nephronophthisis 13 ⚠
p.Ser432Gly Multiple submitters Senior-Loken syndrome 8 ⚠
p.Ser778Thr Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Ser879Pro Multiple submitters Senior-Loken syndrome 8 ⚠
p.Thr1005Ser Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Thr1006Ala Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Thr1250Met Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Thr143Ser Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Thr171Met Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Thr365Ala Multiple submitters Senior-Loken syndrome 8 ⚠
p.Thr371Ile Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Thr619Asn Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Thr644Met Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Thr730Ile Multiple submitters Senior-Loken syndrome 8 ⚠
p.Thr86Lys Multiple submitters nephronophthisis 13 ⚠
p.Thr985Lys Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Trp409Ser Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Tyr1010Cys Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Tyr1023Ser Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Tyr1133His Multiple submitters Senior-Loken syndrome 8 ⚠
p.Tyr1157Cys Multiple submitters Senior-Loken syndrome 8 ⚠
p.Tyr237Cys Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Tyr36Asp Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Tyr614Cys Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Tyr698Ser Multiple submitters Senior-Loken syndrome 8 ⚠
p.Tyr740His Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Tyr996Cys Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Val1128Ala Multiple submitters Senior-Loken syndrome 8 ⚠
p.Val1164Asp Multiple submitters Senior-Loken syndrome 8 ⚠
p.Val372Ile Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Val376Ala Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Val412Ile Multiple submitters spermatogenic failure 72 ⚠
p.Val496Ile Multiple submitters asphyxiating thoracic dystrophy 5 ⚠
p.Val508Ile Multiple submitters Senior-Loken syndrome 8 ⚠
p.Val572= Multiple submitters spermatogenic failure 72
p.Val817Glu Multiple submitters nephronophthisis 13 ⚠
p.Val831Ala Multiple submitters Inborn genetic diseases ⚠
p.Val885Ile Multiple submitters Inborn genetic diseases ⚠
p.Val892Ile Multiple submitters Senior-Loken syndrome 8 ⚠
p.Val915Ile Multiple submitters Inborn genetic diseases ⚠
p.Val915Leu Multiple submitters Senior-Loken syndrome 8 ⚠
p.Val927Ile Multiple submitters spermatogenic failure 72 ⚠
c.1134+4T>A Single submitter
c.1250-197C>T Single submitter
c.13+14C>T Single submitter cranioectodermal dysplasia 4
c.1356+4A>G Single submitter Senior-Loken syndrome 8
c.1479+3A>G Single submitter
c.1629+1G>A Single submitter
c.1778-3T>C Single submitter Senior-Loken syndrome 8
c.1982+6C>T Single submitter asphyxiating thoracic dystrophy 5
c.2143-12T>G Single submitter asphyxiating thoracic dystrophy 5
c.2364-13_2364-9del Single submitter cranioectodermal dysplasia 4
c.2421+5C>T Single submitter cranioectodermal dysplasia 4
c.2422-5T>C Single submitter Inborn genetic diseases
c.2562+19_2562+28del Single submitter Senior-Loken syndrome 8
c.2562+4C>G Single submitter Senior-Loken syndrome 8
c.2562+5T>C Single submitter Senior-Loken syndrome 8
c.2563-3T>C Single submitter asphyxiating thoracic dystrophy 5
c.2645+5G>A Single submitter
c.2646-16G>A Single submitter asphyxiating thoracic dystrophy 5
c.2646-9C>T Single submitter Senior-Loken syndrome 8
c.2877-13T>C Single submitter cranioectodermal dysplasia 4
c.291-12_291-11del Single submitter cranioectodermal dysplasia 4
c.291-9A>G Single submitter
c.3001+3A>G Single submitter Senior-Loken syndrome 8
c.3001+6T>C Single submitter asphyxiating thoracic dystrophy 5
c.(3183+1_3184-1 Single submitter Stargardt-like macular dystrophy
c.3183+3A>G Single submitter Senior-Loken syndrome 8
c.3184-12C>A Single submitter cranioectodermal dysplasia 4
c.3262-8T>C Single submitter asphyxiating thoracic dystrophy 5
c.3358+12A>G Single submitter asphyxiating thoracic dystrophy 5
c.3359-5T>A Single submitter asphyxiating thoracic dystrophy 5
c.3565+4A>C Single submitter asphyxiating thoracic dystrophy 5
c.3913_3917+1dup Single submitter asphyxiating thoracic dystrophy 5
c.3917+6T>C Single submitter cranioectodermal dysplasia 4
c.406+5_406+11del Single submitter asphyxiating thoracic dystrophy 5
c.522+8A>G Single submitter Senior-Loken syndrome 8
c.6+4A>C Single submitter
c.603+3A>G Single submitter asphyxiating thoracic dystrophy 5
c.7-5T>G Single submitter Senior-Loken syndrome 8
c.716+4T>A Single submitter asphyxiating thoracic dystrophy 5
c.98+5G>T Single submitter cranioectodermal dysplasia 4
c.-10G>C Single submitter
c.*106T>G Single submitter asphyxiating thoracic dystrophy 5
c.*124T>G Single submitter cranioectodermal dysplasia 4
c.*131C>T Single submitter cranioectodermal dysplasia 4
c.*152G>A Single submitter cranioectodermal dysplasia 4
c.*184T>G Single submitter cranioectodermal dysplasia 4
c.*296T>G Single submitter asphyxiating thoracic dystrophy 5
c.*83G>C Single submitter asphyxiating thoracic dystrophy 5
p.Ala1054Ser Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala1054Thr Single submitter Senior-Loken syndrome 8 ⚠
p.Ala1065Thr Single submitter cranioectodermal dysplasia 4 ⚠
p.Ala1113Ser Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala1119Thr Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala1125Thr Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala1125Val Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala1134Thr Single submitter ⚠
p.Ala1180Thr Single submitter Inborn genetic diseases ⚠
p.Ala1249= Single submitter
p.Ala1249Thr Single submitter Inborn genetic diseases ⚠
p.Ala1279Ser Single submitter Inborn genetic diseases ⚠
p.Ala15Thr Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala20Val Single submitter Inborn genetic diseases ⚠
p.Ala223Thr Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala271Val Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala282Glu Single submitter cranioectodermal dysplasia 4 ⚠
p.Ala394= Single submitter asphyxiating thoracic dystrophy 5
p.Ala408Val Single submitter Inborn genetic diseases ⚠
p.Ala431= Single submitter asphyxiating thoracic dystrophy 5
p.Ala460Val Single submitter cranioectodermal dysplasia 4 ⚠
p.Ala665Asp Single submitter cranioectodermal dysplasia 4 ⚠
p.Ala677Val Single submitter Senior-Loken syndrome 8 ⚠
p.Ala684Gly Single submitter cranioectodermal dysplasia 4 ⚠
p.Ala723Pro Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala723Val Single submitter Senior-Loken syndrome 8
p.Ala736Asp Single submitter ⚠
p.Ala748Thr Single submitter ⚠
p.Ala788Val Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala794Gly Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala796Ser Single submitter Senior-Loken syndrome 8 ⚠
p.Ala812Gly Single submitter Senior-Loken syndrome 8 ⚠
p.Ala859Val Single submitter ⚠
p.Ala883Val Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala917Thr Single submitter asphyxiating thoracic dystrophy 5
p.Ala954Pro Single submitter ⚠
p.Ala958Val Single submitter cranioectodermal dysplasia 4 ⚠
p.Ala970Thr Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Ala997Glu Single submitter Senior-Loken syndrome 8 ⚠
p.Arg1022= Single submitter asphyxiating thoracic dystrophy 5
p.Arg1174Ser Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Arg1203Lys Single submitter asphyxiating thoracic dystrophy 5 ⚠
p.Arg1219Gly Single submitter cranioectodermal dysplasia 4
p.Arg1223Pro Single submitter Senior-Loken syndrome 8 ⚠
p.Arg130Gly Single submitter Senior-Loken syndrome 8 ⚠
p.Arg1320Thr Single submitter asphyxiating thoracic dystrophy 5 ⚠