ADAR — 1631 ClinVar variants

All ClinVar germline ADAR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 801 flagged for review →

65 Pathogenic · 8 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 38 Conflicting · 60 Benign · 13 Benign/Likely benign · 534 Likely benign · 882 Uncertain significance

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

⚑ Evidence disagreements 801

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 1

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

ADAR p.Tyr1112Phe Pathogenic/Likely pathogenic No assertion criteria
Aicardi-Goutieres syndrome 6

Predictors agree, ClinVar conflicts 17

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

ADAR p.Ala376Ser Conflicting Single submitter
Inborn genetic diseases
ADAR p.Ala387Thr Conflicting Single submitter
Inborn genetic diseases
ADAR p.Ala515Ser Conflicting Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg1042Cys Conflicting Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg1155Trp Conflicting Single submitter
Inborn genetic diseases
ADAR p.Arg866His Conflicting Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asn398Asp Conflicting Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asn542Ser Conflicting Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly163Arg Conflicting Single submitter
Inborn genetic diseases
ADAR p.His1097Asn Conflicting Single submitter
Inborn genetic diseases
ADAR p.His910Arg Conflicting Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ile1111Val Conflicting Single submitter
Inborn genetic diseases
ADAR p.Ile844Arg Conflicting Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Lys637Arg Conflicting Single submitter
Inborn genetic diseases
ADAR p.Pro694Ser Conflicting Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ser397Thr Conflicting Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Val616Ile Conflicting Single submitter
dyschromatosis symmetrica hereditaria

Predictors lean, ClinVar uncertain 501

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 501

ADAR p.Ala468Ser Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Ala469Ser Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ala515Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Ala654Thr Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Ala970Thr Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Arg1026Trp Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Arg1032His Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Arg1150Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Arg467His Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Arg474Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Arg489Gln Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Arg790His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Arg987His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Asn321Ser Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Asn368Ile Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Asn439Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Asn439Ser Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Asp312Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Asp458Asn Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Asp748Asn Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Cys1129Phe Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Gln139Glu Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Gln693Glu Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Glu132Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Glu594Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Glu594Lys Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Glu631Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Glu700Gly Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Glu985Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Gly1050Arg Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Gly215Ser Uncertain significance Multiple submitters
ADAR-related disorder
ADAR p.Gly33Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Gly471Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Gly918Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.His110Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.His159Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.His354Gln Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.His586Arg Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.His681Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.His738Arg Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ile524Val Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ile793Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Ile873Val Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ile920Leu Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Leu68Val Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Leu792Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Lys1167Gln Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Lys145Arg Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Lys366Arg Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Lys929Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Lys944Gln Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Lys944Glu Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Met403Val Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Met566Leu Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Phe39Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Phe75Cys Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Phe852Val Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Phe919Tyr Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Pro168Thr Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Pro3Ala Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Pro434Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Pro435Leu Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Pro62Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Pro965Leu Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ser281Gly Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Ser371Asn Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ser484Gly Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ser581Pro Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ser862Ala Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ser878Pro Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Thr1021Met Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Thr1194Met Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Thr167Ile Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Thr369Arg Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Thr567Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Thr589Ala Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Thr589Arg Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Thr601Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Val1101Ile Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Val1101Phe Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Val759Ile Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Val955Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Ala1131Ser Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala1189Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala189Thr Uncertain significance Single submitter
Inborn genetic diseases
ADAR p.Ala198Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala198Val Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Ala220Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala286Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala376Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala378Ser Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala378Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala425Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala468Thr Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Ala512Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala549Asp Uncertain significance Single submitter
ADAR p.Ala561Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala561Val Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Ala597Ser Uncertain significance Single submitter
Inborn genetic diseases
ADAR p.Ala662Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala668Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala672Val Uncertain significance Single submitter
ADAR p.Ala673Glu Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Ala676Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala679Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala684Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala774Thr Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Ala774Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala799Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala813Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala828Val Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Ala935Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala970Gly Uncertain significance Single submitter
ADAR p.Ala980Asp Uncertain significance Single submitter
Inborn genetic diseases
ADAR p.Ala980Ser Uncertain significance Single submitter
Inborn genetic diseases
ADAR p.Ala980Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1001Cys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1001His Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1026Gln Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1032Ser Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg1042Ser Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1078His Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1078Pro Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1083His Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg1096Gln Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg1096Gly Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg1155Gln Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg116Ser Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1172Cys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1174Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1190Gly Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg1190His Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg232Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg232Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg345Lys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg362Lys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg385Lys Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg431Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg467Cys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg489Pro Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg4Pro Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg633Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg714Gly Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg72Gln Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg736Cys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg736His Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg74Gly Uncertain significance Single submitter
ADAR p.Arg767Cys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg790Cys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg801Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria

Predictors split 282

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 282

ADAR p.Ala549Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Ala735Thr Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Ala742Thr Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ala787Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Arg1174Cys Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Arg328Gln Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Arg360Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Arg850Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Asn205Lys Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Asp1093Gly Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Asp240His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Asp289His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Asp336Asn Uncertain significance Multiple submitters
ADAR-related disorder
ADAR p.Asp342Asn Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Asp342Tyr Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Cys851Tyr Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Glu1014Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Glu410Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Glu520Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Gly183Ser Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Gly258Arg Benign/Likely benign Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Gly865Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Leu390Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Lys1122Gln Likely pathogenic Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Lys974Glu Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Pro168Leu Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Pro262Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Pro350Leu Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Pro351Ser Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Pro55Leu Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Pro76Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Pro942Ser Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ser1114Cys Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ser1170Phe Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Ser690Phe Uncertain significance Multiple submitters
dyschromatosis symmetrica hereditaria
ADAR p.Thr1145Ala Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Thr607Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Thr725Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Val259Met Uncertain significance Multiple submitters
Inborn genetic diseases
ADAR p.Val772Ile Uncertain significance Multiple submitters
Aicardi-Goutieres syndrome 6
ADAR p.Ala1051Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala1195Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala189Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala198Glu Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala247Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala250Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala252Gly Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Ala252Ser Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala315Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala315Ser Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Ala549Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala787Thr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Ala871Thr Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Ala871Val Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Ala935Pro Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg1032Cys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg114Cys Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg114His Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1174His Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg1190Cys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg367Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg489Trp Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg544Gln Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg633Cys Benign Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg633His Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg72Trp Conflicting Single submitter
Inborn genetic diseases
ADAR p.Arg74Lys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg801Cys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg801His Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Arg817Ile Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg91Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Arg95Gly Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asn1102Ser Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asn173Ser Conflicting Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asn222Ile Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asn233Lys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asn254Lys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asn271Asp Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asn522Ser Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asn522Thr Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asp1135Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp1191Asn Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp1191His Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asp1205Gly Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asp160His Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp214Asn Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp214Gly Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asp224Asn Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp224Glu Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp224His Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp231Asn Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp263Glu Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp280Gly Uncertain significance Single submitter
Inborn genetic diseases
ADAR p.Asp289Asn Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asp289Glu Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asp289Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp336Tyr Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Asp342Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp457Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp560Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Asp937Gly Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Cys649Tyr Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gln1058Arg Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gln141Arg Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gln202Arg Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gln251Glu Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gln43Glu Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gln526Arg Conflicting Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gln538Arg Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Glu1193Lys Conflicting Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Glu140Ala Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Glu140Gln Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Glu171Lys Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Glu243Lys Uncertain significance Single submitter
Inborn genetic diseases
ADAR p.Glu361Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Glu420Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Glu45Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Glu53Asp Uncertain significance Single submitter
Inborn genetic diseases
ADAR p.Glu545Gly Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Glu638Gln Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Glu643Asp Likely benign Single submitter
Inborn genetic diseases
ADAR p.Glu806Val Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Glu947Ala Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Glu982Lys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly103Glu Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly107Glu Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly107Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly1141Ser Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly115Asp Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly151Glu Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly153Arg Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly163Trp Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly190Arg Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly190Val Uncertain significance Single submitter
Inborn genetic diseases
ADAR p.Gly209Arg Conflicting Single submitter
Inborn genetic diseases
ADAR p.Gly219Ala Conflicting Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly219Glu Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly323Asp Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly440Asp Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly552Arg Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly612Glu Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly653Glu Uncertain significance Single submitter
Inborn genetic diseases
ADAR p.Gly739Asp Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly766Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly803Cys Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly92Cys Uncertain significance Single submitter
Aicardi-Goutieres syndrome 6
ADAR p.Gly92Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly946Arg Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly96Ala Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria
ADAR p.Gly96Val Uncertain significance Single submitter
dyschromatosis symmetrica hereditaria

All ADAR variants

Pathogenic 65

p.Arg1078Cys Multiple submitters dyschromatosis symmetrica hereditaria
p.Arg328Ter Multiple submitters dyschromatosis symmetrica hereditaria
p.Arg534Ter Multiple submitters ADAR-related disorder
p.Gln559Ter Multiple submitters dyschromatosis symmetrica hereditaria
c.2079+1G>C Single submitter
c.2669-1G>C Single submitter
c.2885+2T>C Single submitter Inborn genetic diseases
c.3020-1G>A Single submitter Aicardi-Goutieres syndrome 6
c.3316-1G>T Single submitter dyschromatosis symmetrica hereditaria
p.Arg100fs Single submitter dyschromatosis symmetrica hereditaria
p.Arg1042His Single submitter dyschromatosis symmetrica hereditaria
p.Arg1078Leu Single submitter dyschromatosis symmetrica hereditaria
p.Arg1116fs Single submitter
p.Arg174Ter Single submitter Aicardi-Goutieres syndrome 6
p.Arg474Ter Single submitter dyschromatosis symmetrica hereditaria
p.Arg91fs Single submitter dyschromatosis symmetrica hereditaria
p.Asn711fs Single submitter dyschromatosis symmetrica hereditaria
p.Asn857fs Single submitter dyschromatosis symmetrica hereditaria
p.Asp1087fs Single submitter Inborn genetic diseases
p.Gln109Ter Single submitter dyschromatosis symmetrica hereditaria
p.Gln131Ter Single submitter dyschromatosis symmetrica hereditaria
p.Gln255Ter Single submitter dyschromatosis symmetrica hereditaria
p.Gln29Ter Single submitter dyschromatosis symmetrica hereditaria
p.Gln526Ter Single submitter dyschromatosis symmetrica hereditaria
p.Gln600Ter Single submitter
p.Gln749Ter Single submitter dyschromatosis symmetrica hereditaria
p.Gln782Ter Single submitter dyschromatosis symmetrica hereditaria
p.Glu1014Ter Single submitter dyschromatosis symmetrica hereditaria
p.Glu45Ter Single submitter dyschromatosis symmetrica hereditaria
p.Glu498fs Single submitter
p.Glu598fs Single submitter dyschromatosis symmetrica hereditaria
p.Gly1047Asp Single submitter Aicardi-Goutieres syndrome 6
p.Gly115fs Single submitter Aicardi-Goutieres syndrome 6
p.His531fs Single submitter dyschromatosis symmetrica hereditaria
p.Leu147fs Single submitter dyschromatosis symmetrica hereditaria
p.Leu318Ter Single submitter
p.Leu432fs Single submitter dyschromatosis symmetrica hereditaria
p.Leu496fs Single submitter dyschromatosis symmetrica hereditaria
p.Leu508_Leu509insTer Single submitter dyschromatosis symmetrica hereditaria
p.Lys366fs Single submitter dyschromatosis symmetrica hereditaria
p.Met337fs Single submitter dyschromatosis symmetrica hereditaria
p.Met981fs Single submitter dyschromatosis symmetrica hereditaria
p.Pro193fs Single submitter Aicardi-Goutieres syndrome 6
p.Pro213fs Single submitter dyschromatosis symmetrica hereditaria
p.Pro727fs Single submitter
p.Pro770fs Single submitter dyschromatosis symmetrica hereditaria
p.Ser200_Thr201insTer Single submitter Aicardi-Goutieres syndrome 6
p.Ser217fs Single submitter dyschromatosis symmetrica hereditaria
p.Ser311fs Single submitter Aicardi-Goutieres syndrome 6
p.Ser491Ter Single submitter dyschromatosis symmetrica hereditaria
p.Ser581fs Single submitter dyschromatosis symmetrica hereditaria
p.Ser611fs Single submitter
p.Ser862fs Single submitter dyschromatosis symmetrica hereditaria
p.Tyr1134Ter Single submitter Aicardi-Goutieres syndrome 6
p.Val333_Leu334insTer Single submitter dyschromatosis symmetrica hereditaria
p.Val660fs Single submitter dyschromatosis symmetrica hereditaria
p.Val728fs Single submitter dyschromatosis symmetrica hereditaria
c.3202+1G>A No assertion criteria Aicardi-Goutieres syndrome 6
p.Arg544Ter No assertion criteria Aicardi-Goutieres syndrome 6
p.Gln693Ter No assertion criteria dyschromatosis symmetrica hereditaria
p.Leu923Pro No assertion criteria dyschromatosis symmetrica hereditaria
p.Lys359fs No assertion criteria Aicardi-Goutieres syndrome 6
p.Lys952Ter No assertion criteria dyschromatosis symmetrica hereditaria
p.Phe1165Ser No assertion criteria dyschromatosis symmetrica hereditaria
p.Ser314fs No assertion criteria dyschromatosis symmetrica hereditaria

Pathogenic/Likely pathogenic 8

p.Ala813fs Multiple submitters Inborn genetic diseases
p.Arg1096Ter Multiple submitters Inborn genetic diseases
p.Arg360Ter Multiple submitters Aicardi-Goutieres syndrome 6
p.Lys1122Ter Multiple submitters Aicardi-Goutieres syndrome 6
p.Asp1113His No assertion criteria Aicardi-Goutieres syndrome 6
p.Ile872Thr No assertion criteria Aicardi-Goutieres syndrome 6
p.Lys999Asn No assertion criteria Aicardi-Goutieres syndrome 6
p.Tyr1112Phe No assertion criteria Aicardi-Goutieres syndrome 6 ⚠

Likely pathogenic 31

c.2885+1G>A Multiple submitters dyschromatosis symmetrica hereditaria
p.Lys1122Gln Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
c.16-2A>G Single submitter Aicardi-Goutieres syndrome 6
c.1601+1G>T Single submitter
c.1602-2A>G Single submitter Aicardi-Goutieres syndrome 6
c.1786-1G>C Single submitter dyschromatosis symmetrica hereditaria
c.2270+1G>A Single submitter Aicardi-Goutieres syndrome 6
c.2763-1G>A Single submitter dyschromatosis symmetrica hereditaria
c.2886-1del Single submitter dyschromatosis symmetrica hereditaria
c.3019+1G>A Single submitter dyschromatosis symmetrica hereditaria
c.3020-3C>G Single submitter
c.3203-1G>C Single submitter
c.3443+2T>A Single submitter
p.Arg1001Leu Single submitter
p.Asp342fs Single submitter dyschromatosis symmetrica hereditaria
p.Gln1049His Single submitter dyschromatosis symmetrica hereditaria
p.Gln423Ter Single submitter
p.Glu572fs Single submitter
p.Glu985fs Single submitter dyschromatosis symmetrica hereditaria
p.Gly1007Arg Single submitter
p.His1103fs Single submitter dyschromatosis symmetrica hereditaria
p.Leu1048Pro Single submitter dyschromatosis symmetrica hereditaria
p.Lys495Ter Single submitter ADAR-related disorder
p.Met1034Ile Single submitter
p.Pro604fs Single submitter dyschromatosis symmetrica hereditaria
p.Ser1072Ile Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Trp195Ter Single submitter dyschromatosis symmetrica hereditaria
c.2763-2A>G No assertion criteria Aicardi-Goutieres syndrome 6
p.Asn222fs No assertion criteria Aicardi-Goutieres syndrome 6
p.Thr1085fs No assertion criteria Aicardi-Goutieres syndrome 6
p.Trp253Ter No assertion criteria Aicardi-Goutieres syndrome 6

Conflicting classifications of pathogenicity 38

c.1785+5G>A Single submitter dyschromatosis symmetrica hereditaria
c.2079+8G>A Single submitter dyschromatosis symmetrica hereditaria
c.2668+6T>C Single submitter Aicardi-Goutieres syndrome 6
c.2762+10G>A Single submitter dyschromatosis symmetrica hereditaria
c.2762+6C>T Single submitter dyschromatosis symmetrica hereditaria
c.2763-7T>C Single submitter dyschromatosis symmetrica hereditaria
c.2886-12C>G Single submitter dyschromatosis symmetrica hereditaria
p.Ala376Ser Single submitter Inborn genetic diseases ⚠
p.Ala387Thr Single submitter Inborn genetic diseases ⚠
p.Ala515Ser Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg1042Cys Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg1155Trp Single submitter Inborn genetic diseases ⚠
p.Arg544= Single submitter dyschromatosis symmetrica hereditaria
p.Arg72Trp Single submitter Inborn genetic diseases ⚠
p.Arg866His Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Asn1006= Single submitter dyschromatosis symmetrica hereditaria
p.Asn173Ser Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Asn398Asp Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Asn464= Single submitter dyschromatosis symmetrica hereditaria
p.Asn542Ser Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Gln526Arg Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Glu1193Lys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Gly163Arg Single submitter Inborn genetic diseases ⚠
p.Gly209Arg Single submitter Inborn genetic diseases ⚠
p.Gly219Ala Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.His1097Asn Single submitter Inborn genetic diseases ⚠
p.His910Arg Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ile1111Val Single submitter Inborn genetic diseases ⚠
p.Ile844Arg Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Lys637Arg Single submitter Inborn genetic diseases ⚠
p.Phe514= Single submitter Aicardi-Goutieres syndrome 6
p.Pro1215= Single submitter dyschromatosis symmetrica hereditaria
p.Pro193Ala Single submitter ADAR-related type 1 interferonopathy ⚠
p.Pro694Ser Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ser217Asn Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ser371= Single submitter dyschromatosis symmetrica hereditaria
p.Ser397Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Val616Ile Single submitter dyschromatosis symmetrica hereditaria ⚠

Benign 60

c.15+104GT[9] Multiple submitters
c.15+10G>T Multiple submitters Aicardi-Goutieres syndrome 6
c.1601+98G>A Multiple submitters
c.1602-116_1602-114dup Multiple submitters
c.2271-272T>C Multiple submitters
c.2496+31G>T Multiple submitters
c.2496+35C>G Multiple submitters Aicardi-Goutieres syndrome 6
c.2496+9G>A Multiple submitters dyschromatosis symmetrica hereditaria
c.2497-15C>T Multiple submitters dyschromatosis symmetrica hereditaria
c.2763-112C>G Multiple submitters
c.3020-197C>G Multiple submitters
c.3443+8G>A Multiple submitters dyschromatosis symmetrica hereditaria
c.*1016C>T Multiple submitters dyschromatosis symmetrica hereditaria
c.*1242A>C Multiple submitters dyschromatosis symmetrica hereditaria
c.*1549T>A Multiple submitters dyschromatosis symmetrica hereditaria
c.*1790A>G Multiple submitters dyschromatosis symmetrica hereditaria
c.*245T>C Multiple submitters dyschromatosis symmetrica hereditaria
c.*413A>T Multiple submitters dyschromatosis symmetrica hereditaria
c.*619C>T Multiple submitters dyschromatosis symmetrica hereditaria
c.*857C>T Multiple submitters dyschromatosis symmetrica hereditaria
p.Arg26= Multiple submitters dyschromatosis symmetrica hereditaria
p.Lys384Arg Multiple submitters Aicardi-Goutieres syndrome 6
p.Val894= Multiple submitters dyschromatosis symmetrica hereditaria
c.15+241TG[10] Single submitter
c.15+257T>C Single submitter
c.15+258_15+269del Single submitter
c.16-213T>G Single submitter
c.16-219C>T Single submitter
c.16-234T>C Single submitter
c.16-323A>G Single submitter
c.1602-114_1602-112dup Single submitter
c.1785+186C>T Single submitter
c.1935-152C>G Single submitter
c.1935-20C>T Single submitter dyschromatosis symmetrica hereditaria
c.2270+102C>T Single submitter
c.2496+36dup Single submitter
c.2497-5dup Single submitter dyschromatosis symmetrica hereditaria
c.2668+20A>C Single submitter dyschromatosis symmetrica hereditaria
c.2762+184G>C Single submitter
c.3019+19dup Single submitter dyschromatosis symmetrica hereditaria
c.-151A>G Single submitter dyschromatosis symmetrica hereditaria
c.-48A>G Single submitter dyschromatosis symmetrica hereditaria
c.-870-5704del Single submitter
c.-870-5732G>A Single submitter
c.-870-5793G>C Single submitter
c.-912T>C Single submitter
c.*1436G>T Single submitter dyschromatosis symmetrica hereditaria
c.*1614T>A Single submitter dyschromatosis symmetrica hereditaria
c.*2033G>A Single submitter dyschromatosis symmetrica hereditaria
c.*2199C>T Single submitter dyschromatosis symmetrica hereditaria
c.*25G>C Single submitter dyschromatosis symmetrica hereditaria
c.*2623C>T Single submitter dyschromatosis symmetrica hereditaria
c.*2643G>A Single submitter dyschromatosis symmetrica hereditaria
c.*368G>A Single submitter dyschromatosis symmetrica hereditaria
c.*898G>A Single submitter dyschromatosis symmetrica hereditaria
c.*938A>C Single submitter dyschromatosis symmetrica hereditaria
c.*943C>A Single submitter dyschromatosis symmetrica hereditaria
p.Arg100= Single submitter Aicardi-Goutieres syndrome 6
p.Arg633Cys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ser629= Single submitter dyschromatosis symmetrica hereditaria

Benign/Likely benign 13

c.1934+12G>A Multiple submitters dyschromatosis symmetrica hereditaria
c.1934+8C>T Multiple submitters Aicardi-Goutieres syndrome 6
c.2496+8C>T Multiple submitters dyschromatosis symmetrica hereditaria
c.2886-11_2886-10del Multiple submitters dyschromatosis symmetrica hereditaria
p.Arg1175= Multiple submitters Aicardi-Goutieres syndrome 6
p.Cys773= Multiple submitters dyschromatosis symmetrica hereditaria
p.Cys851= Multiple submitters Aicardi-Goutieres syndrome 6
p.Gly19= Multiple submitters dyschromatosis symmetrica hereditaria
p.Gly258Arg Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.His642= Multiple submitters Aicardi-Goutieres syndrome 6
p.Ile335Phe Multiple submitters dyschromatosis symmetrica hereditaria
p.Thr617= Multiple submitters Aicardi-Goutieres syndrome 6
p.Tyr587Cys Multiple submitters Aicardi-Goutieres syndrome 6

Likely benign 534

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

c.15+9G>A Multiple submitters dyschromatosis symmetrica hereditaria
c.1935-19G>A Multiple submitters Aicardi-Goutieres syndrome 6
c.2497-91C>T Multiple submitters
c.2669-9C>T Multiple submitters dyschromatosis symmetrica hereditaria
c.2763-10C>G Multiple submitters dyschromatosis symmetrica hereditaria
c.2763-79C>T Multiple submitters
c.3020-137C>T Multiple submitters
p.Ala158= Multiple submitters Aicardi-Goutieres syndrome 6
p.Ala198= Multiple submitters Aicardi-Goutieres syndrome 6
p.Ala379= Multiple submitters Aicardi-Goutieres syndrome 6
p.Ala575= Multiple submitters Aicardi-Goutieres syndrome 6
p.Ala684= Multiple submitters Aicardi-Goutieres syndrome 6
p.Arg74= Multiple submitters dyschromatosis symmetrica hereditaria
p.Arg866= Multiple submitters dyschromatosis symmetrica hereditaria
p.Asn386= Multiple submitters Aicardi-Goutieres syndrome 6
p.Asp214= Multiple submitters dyschromatosis symmetrica hereditaria
p.Cys630= Multiple submitters Aicardi-Goutieres syndrome 6
p.Gln206= Multiple submitters dyschromatosis symmetrica hereditaria
p.Gln655= Multiple submitters dyschromatosis symmetrica hereditaria
p.Gly1144= Multiple submitters Aicardi-Goutieres syndrome 6
p.His754= Multiple submitters dyschromatosis symmetrica hereditaria
p.Leu1057= Multiple submitters Aicardi-Goutieres syndrome 6
p.Leu1067= Multiple submitters dyschromatosis symmetrica hereditaria
p.Leu1168= Multiple submitters dyschromatosis symmetrica hereditaria
p.Leu864= Multiple submitters dyschromatosis symmetrica hereditaria
p.Lys625= Multiple submitters Aicardi-Goutieres syndrome 6
p.Phe758= Multiple submitters dyschromatosis symmetrica hereditaria
p.Ser10= Multiple submitters dyschromatosis symmetrica hereditaria
p.Ser208= Multiple submitters Aicardi-Goutieres syndrome 6
p.Ser257= Multiple submitters Aicardi-Goutieres syndrome 6
p.Thr375= Multiple submitters dyschromatosis symmetrica hereditaria
p.Val333= Multiple submitters dyschromatosis symmetrica hereditaria
c.15+10del Single submitter dyschromatosis symmetrica hereditaria
c.15+10G>A Single submitter dyschromatosis symmetrica hereditaria
c.15+10G>C Single submitter Aicardi-Goutieres syndrome 6
c.15+12C>T Single submitter dyschromatosis symmetrica hereditaria
c.15+13G>C Single submitter Aicardi-Goutieres syndrome 6
c.15+15C>A Single submitter dyschromatosis symmetrica hereditaria
c.15+15C>T Single submitter dyschromatosis symmetrica hereditaria
c.15+16C>T Single submitter dyschromatosis symmetrica hereditaria
c.15+20G>A Single submitter Aicardi-Goutieres syndrome 6
c.15+241TG[11] Single submitter
c.15+259_15+268del Single submitter
c.15+7C>T Single submitter dyschromatosis symmetrica hereditaria
c.15+8G>A Single submitter Aicardi-Goutieres syndrome 6
c.15+8G>C Single submitter dyschromatosis symmetrica hereditaria
c.16-12C>G Single submitter dyschromatosis symmetrica hereditaria
c.16-14G>A Single submitter dyschromatosis symmetrica hereditaria
c.16-14G>C Single submitter dyschromatosis symmetrica hereditaria
c.16-17A>G Single submitter dyschromatosis symmetrica hereditaria
c.16-23_16-20del Single submitter dyschromatosis symmetrica hereditaria
c.16-7T>A Single submitter dyschromatosis symmetrica hereditaria
c.16-8T>C Single submitter dyschromatosis symmetrica hereditaria
c.1601+17dup Single submitter dyschromatosis symmetrica hereditaria
c.1601+17G>A Single submitter dyschromatosis symmetrica hereditaria
c.1601+17G>T Single submitter Aicardi-Goutieres syndrome 6
c.1601+19A>G Single submitter Aicardi-Goutieres syndrome 6
c.1601+317C>T Single submitter
c.1602-12C>T Single submitter dyschromatosis symmetrica hereditaria
c.1602-13A>G Single submitter dyschromatosis symmetrica hereditaria
c.1602-14C>G Single submitter dyschromatosis symmetrica hereditaria
c.1602-17A>G Single submitter Aicardi-Goutieres syndrome 6
c.1602-17A>T Single submitter dyschromatosis symmetrica hereditaria
c.1602-19_1602-18del Single submitter dyschromatosis symmetrica hereditaria
c.1602-19C>G Single submitter dyschromatosis symmetrica hereditaria
c.1602-4C>G Single submitter dyschromatosis symmetrica hereditaria
c.1602-4C>T Single submitter Aicardi-Goutieres syndrome 6
c.1602-6G>A Single submitter dyschromatosis symmetrica hereditaria
c.1602-7C>T Single submitter Aicardi-Goutieres syndrome 6
c.1602-9T>C Single submitter dyschromatosis symmetrica hereditaria
c.1785+10C>G Single submitter Aicardi-Goutieres syndrome 6
c.1785+12_1785+14del Single submitter dyschromatosis symmetrica hereditaria
c.1785+12C>T Single submitter Aicardi-Goutieres syndrome 6
c.1785+15G>A Single submitter dyschromatosis symmetrica hereditaria
c.1785+16C>G Single submitter dyschromatosis symmetrica hereditaria
c.1785+17C>T Single submitter Aicardi-Goutieres syndrome 6
c.1785+18A>T Single submitter dyschromatosis symmetrica hereditaria
c.1785+20C>T Single submitter Aicardi-Goutieres syndrome 6
c.1785+7_1785+15del Single submitter Aicardi-Goutieres syndrome 6
c.1785+9C>T Single submitter dyschromatosis symmetrica hereditaria
c.1786-14C>T Single submitter Aicardi-Goutieres syndrome 6
c.1786-17TC[2] Single submitter Aicardi-Goutieres syndrome 6
c.1786-18G>A Single submitter Aicardi-Goutieres syndrome 6
c.1786-3dup Single submitter dyschromatosis symmetrica hereditaria
c.1786-8T>C Single submitter dyschromatosis symmetrica hereditaria
c.1934+10A>G Single submitter dyschromatosis symmetrica hereditaria
c.1934+11C>T Single submitter dyschromatosis symmetrica hereditaria
c.1934+15T>A Single submitter dyschromatosis symmetrica hereditaria
c.1934+16C>T Single submitter dyschromatosis symmetrica hereditaria
c.1934+19C>G Single submitter dyschromatosis symmetrica hereditaria
c.1934+7C>T Single submitter dyschromatosis symmetrica hereditaria
c.1934+9T>C Single submitter dyschromatosis symmetrica hereditaria
c.1935-12A>G Single submitter dyschromatosis symmetrica hereditaria
c.1935-16C>T Single submitter Aicardi-Goutieres syndrome 6
c.1935-261G>C Single submitter
c.1935-5G>A Single submitter dyschromatosis symmetrica hereditaria
c.1935-5G>C Single submitter dyschromatosis symmetrica hereditaria
c.1935-5G>T Single submitter dyschromatosis symmetrica hereditaria
c.1935-6T>G Single submitter Aicardi-Goutieres syndrome 6
c.1935-8C>T Single submitter dyschromatosis symmetrica hereditaria
c.2079+12T>G Single submitter Aicardi-Goutieres syndrome 6
c.2079+13C>T Single submitter Aicardi-Goutieres syndrome 6
c.2079+14C>T Single submitter dyschromatosis symmetrica hereditaria
c.2079+18T>C Single submitter Aicardi-Goutieres syndrome 6
c.2079+19C>G Single submitter Aicardi-Goutieres syndrome 6
c.2079+19C>T Single submitter Aicardi-Goutieres syndrome 6
c.2079+7C>T Single submitter Aicardi-Goutieres syndrome 6
c.2080-15T>C Single submitter dyschromatosis symmetrica hereditaria
c.2080-9C>A Single submitter dyschromatosis symmetrica hereditaria
c.2270+15C>T Single submitter
c.2270+16C>T Single submitter Aicardi-Goutieres syndrome 6
c.2270+18G>A Single submitter Aicardi-Goutieres syndrome 6
c.2270+19G>A Single submitter Aicardi-Goutieres syndrome 6
c.2270+7G>A Single submitter dyschromatosis symmetrica hereditaria
c.2271-10C>T Single submitter dyschromatosis symmetrica hereditaria
c.2271-13del Single submitter dyschromatosis symmetrica hereditaria
c.2271-18_2271-17del Single submitter dyschromatosis symmetrica hereditaria
c.2271-5C>T Single submitter Aicardi-Goutieres syndrome 6
c.2271-7C>T Single submitter dyschromatosis symmetrica hereditaria
c.2496+17T>C Single submitter Aicardi-Goutieres syndrome 6
c.2496+20G>A Single submitter Aicardi-Goutieres syndrome 6
c.2496+41_2496+42dup Single submitter
c.2497-10T>G Single submitter Aicardi-Goutieres syndrome 6
c.2497-12T>G Single submitter dyschromatosis symmetrica hereditaria
c.2497-14T>C Single submitter dyschromatosis symmetrica hereditaria
c.2497-16C>T Single submitter dyschromatosis symmetrica hereditaria
c.2497-17G>A Single submitter dyschromatosis symmetrica hereditaria
c.2497-19C>A Single submitter dyschromatosis symmetrica hereditaria
c.2668+10G>A Single submitter dyschromatosis symmetrica hereditaria
c.2668+11C>T Single submitter dyschromatosis symmetrica hereditaria
c.2668+13C>G Single submitter Aicardi-Goutieres syndrome 6
c.2668+13C>T Single submitter dyschromatosis symmetrica hereditaria
c.2668+15G>A Single submitter dyschromatosis symmetrica hereditaria
c.2668+18A>G Single submitter dyschromatosis symmetrica hereditaria
c.2668+19C>T Single submitter dyschromatosis symmetrica hereditaria
c.2668+20A>G Single submitter dyschromatosis symmetrica hereditaria
c.2669-11C>T Single submitter dyschromatosis symmetrica hereditaria
c.2669-12A>T Single submitter Aicardi-Goutieres syndrome 6
c.2669-19G>A Single submitter dyschromatosis symmetrica hereditaria
c.2669-4del Single submitter dyschromatosis symmetrica hereditaria
c.2669-5C>T Single submitter dyschromatosis symmetrica hereditaria
c.2669-8C>T Single submitter dyschromatosis symmetrica hereditaria
c.2762+11T>G Single submitter dyschromatosis symmetrica hereditaria
c.2762+13A>C Single submitter Aicardi-Goutieres syndrome 6
c.2762+18T>C Single submitter Aicardi-Goutieres syndrome 6
c.2762+206G>A Single submitter
c.2762+33C>T Single submitter
c.2763-10del Single submitter dyschromatosis symmetrica hereditaria
c.2763-14C>T Single submitter dyschromatosis symmetrica hereditaria
c.2763-213G>A Single submitter
c.2763-27_2763-14del Single submitter dyschromatosis symmetrica hereditaria
c.2763-4del Single submitter dyschromatosis symmetrica hereditaria
c.2763-52C>G Single submitter
c.2885+11T>G Single submitter dyschromatosis symmetrica hereditaria
c.2885+13C>G Single submitter dyschromatosis symmetrica hereditaria
c.2885+13C>T Single submitter dyschromatosis symmetrica hereditaria
c.2885+17_2885+18dup Single submitter dyschromatosis symmetrica hereditaria
c.2886-10T>C Single submitter dyschromatosis symmetrica hereditaria
c.2886-13C>T Single submitter Aicardi-Goutieres syndrome 6
c.2886-14C>T Single submitter dyschromatosis symmetrica hereditaria
c.2886-16C>T Single submitter dyschromatosis symmetrica hereditaria
c.2886-19A>C Single submitter dyschromatosis symmetrica hereditaria
c.2886-20C>T Single submitter dyschromatosis symmetrica hereditaria
c.2886-4dup Single submitter dyschromatosis symmetrica hereditaria
c.2886-6T>C Single submitter dyschromatosis symmetrica hereditaria
c.2886-9G>A Single submitter Aicardi-Goutieres syndrome 6
c.3019+10dup Single submitter dyschromatosis symmetrica hereditaria
c.3019+12A>G Single submitter dyschromatosis symmetrica hereditaria
c.3019+13T>C Single submitter dyschromatosis symmetrica hereditaria
c.3019+17C>T Single submitter dyschromatosis symmetrica hereditaria
c.3019+19C>A Single submitter dyschromatosis symmetrica hereditaria
c.3019+19C>T Single submitter Aicardi-Goutieres syndrome 6
c.3019+20G>A Single submitter Aicardi-Goutieres syndrome 6
c.3019+9T>C Single submitter dyschromatosis symmetrica hereditaria
c.3020-11C>G Single submitter Aicardi-Goutieres syndrome 6
c.3020-14A>C Single submitter Aicardi-Goutieres syndrome 6
c.3020-18C>T Single submitter Aicardi-Goutieres syndrome 6
c.3020-7C>T Single submitter dyschromatosis symmetrica hereditaria
c.3020-9C>G Single submitter Aicardi-Goutieres syndrome 6
c.3202+10C>T Single submitter Aicardi-Goutieres syndrome 6
c.3202+12G>C Single submitter Aicardi-Goutieres syndrome 6
c.3202+8G>T Single submitter Aicardi-Goutieres syndrome 6
c.3203-12T>C Single submitter dyschromatosis symmetrica hereditaria
c.3203-13T>G Single submitter dyschromatosis symmetrica hereditaria
c.3203-17C>T Single submitter dyschromatosis symmetrica hereditaria
c.3315+11C>G Single submitter dyschromatosis symmetrica hereditaria
c.3315+12C>G Single submitter dyschromatosis symmetrica hereditaria
c.3315+16T>A Single submitter dyschromatosis symmetrica hereditaria
c.3315+19A>G Single submitter dyschromatosis symmetrica hereditaria
c.3315+6dup Single submitter Aicardi-Goutieres syndrome 6
c.3316-10G>T Single submitter Aicardi-Goutieres syndrome 6
c.3316-15T>G Single submitter dyschromatosis symmetrica hereditaria
c.3316-16C>A Single submitter dyschromatosis symmetrica hereditaria
c.3316-16C>G Single submitter Aicardi-Goutieres syndrome 6
c.3316-16C>T Single submitter dyschromatosis symmetrica hereditaria
c.3316-20del Single submitter dyschromatosis symmetrica hereditaria
c.3316-20G>A Single submitter dyschromatosis symmetrica hereditaria
c.3316-20G>T Single submitter dyschromatosis symmetrica hereditaria
c.3316-4C>A Single submitter dyschromatosis symmetrica hereditaria
c.3316-4C>T Single submitter dyschromatosis symmetrica hereditaria
c.3316-4dup Single submitter dyschromatosis symmetrica hereditaria
c.3316-8A>C Single submitter dyschromatosis symmetrica hereditaria
c.3443+10C>G Single submitter dyschromatosis symmetrica hereditaria
c.3443+18C>T Single submitter dyschromatosis symmetrica hereditaria
c.3443+19G>A Single submitter dyschromatosis symmetrica hereditaria
c.3443+19G>T Single submitter dyschromatosis symmetrica hereditaria
c.3444-10del Single submitter Aicardi-Goutieres syndrome 6
c.3444-10G>T Single submitter dyschromatosis symmetrica hereditaria
c.3444-13T>G Single submitter Aicardi-Goutieres syndrome 6
c.3444-15C>T Single submitter dyschromatosis symmetrica hereditaria
c.3444-16G>A Single submitter dyschromatosis symmetrica hereditaria
c.-870-5704dup Single submitter
c.-870-5705_-870-5704dup Single submitter
c.-908C>A Single submitter hereditary spastic paraplegia
c.*309T>G Single submitter
c.*844G>C Single submitter dyschromatosis symmetrica hereditaria
p.Ala1090= Single submitter dyschromatosis symmetrica hereditaria
p.Ala1131= Single submitter dyschromatosis symmetrica hereditaria
p.Ala1185= Single submitter dyschromatosis symmetrica hereditaria
p.Ala1188= Single submitter dyschromatosis symmetrica hereditaria
p.Ala247= Single submitter dyschromatosis symmetrica hereditaria
p.Ala286= Single submitter dyschromatosis symmetrica hereditaria
p.Ala297= Single submitter dyschromatosis symmetrica hereditaria
p.Ala319= Single submitter dyschromatosis symmetrica hereditaria
p.Ala327= Single submitter Aicardi-Goutieres syndrome 6
p.Ala387= Single submitter dyschromatosis symmetrica hereditaria
p.Ala399= Single submitter Aicardi-Goutieres syndrome 6
p.Ala469= Single submitter dyschromatosis symmetrica hereditaria
p.Ala641= Single submitter Aicardi-Goutieres syndrome 6
p.Ala662= Single submitter Aicardi-Goutieres syndrome 6
p.Ala672= Single submitter Aicardi-Goutieres syndrome 6
p.Ala679= Single submitter dyschromatosis symmetrica hereditaria
p.Ala735= Single submitter Aicardi-Goutieres syndrome 6
p.Ala771= Single submitter Aicardi-Goutieres syndrome 6
p.Ala784= Single submitter dyschromatosis symmetrica hereditaria
p.Ala787= Single submitter dyschromatosis symmetrica hereditaria
p.Ala788= Single submitter Aicardi-Goutieres syndrome 6
p.Ala80= Single submitter dyschromatosis symmetrica hereditaria
p.Ala870= Single submitter dyschromatosis symmetrica hereditaria
p.Ala935= Single submitter dyschromatosis symmetrica hereditaria
p.Ala943= Single submitter dyschromatosis symmetrica hereditaria
p.Ala970= Single submitter Aicardi-Goutieres syndrome 6
p.Arg1001= Single submitter dyschromatosis symmetrica hereditaria
p.Arg100Gly Single submitter Aicardi-Goutieres syndrome 6
p.Arg1042= Single submitter dyschromatosis symmetrica hereditaria
p.Arg1078= Single submitter
p.Arg1116= Single submitter dyschromatosis symmetrica hereditaria
p.Arg116= Single submitter dyschromatosis symmetrica hereditaria
p.Arg1172His Single submitter dyschromatosis symmetrica hereditaria
p.Arg23= Single submitter Aicardi-Goutieres syndrome 6
p.Arg232= Single submitter dyschromatosis symmetrica hereditaria
p.Arg362= Single submitter Aicardi-Goutieres syndrome 6
p.Arg385= Single submitter Aicardi-Goutieres syndrome 6
p.Arg422= Single submitter Aicardi-Goutieres syndrome 6
p.Arg467= Single submitter dyschromatosis symmetrica hereditaria
p.Arg474= Single submitter dyschromatosis symmetrica hereditaria
p.Arg721= Single submitter dyschromatosis symmetrica hereditaria
p.Arg736= Single submitter Aicardi-Goutieres syndrome 6
p.Arg790= Single submitter Aicardi-Goutieres syndrome 6
p.Arg801= Single submitter Aicardi-Goutieres syndrome 6
p.Arg84= Single submitter dyschromatosis symmetrica hereditaria
p.Arg892= Single submitter dyschromatosis symmetrica hereditaria
p.Arg917= Single submitter dyschromatosis symmetrica hereditaria
p.Arg95= Single submitter dyschromatosis symmetrica hereditaria
p.Asn1044= Single submitter Aicardi-Goutieres syndrome 6
p.Asn1102= Single submitter Aicardi-Goutieres syndrome 6
p.Asn1160= Single submitter Aicardi-Goutieres syndrome 6
p.Asn309= Single submitter dyschromatosis symmetrica hereditaria
p.Asn331= Single submitter dyschromatosis symmetrica hereditaria
p.Asn368= Single submitter Aicardi-Goutieres syndrome 6
p.Asn421= Single submitter dyschromatosis symmetrica hereditaria
p.Asn522= Single submitter dyschromatosis symmetrica hereditaria
p.Asn542= Single submitter dyschromatosis symmetrica hereditaria
p.Asn686= Single submitter dyschromatosis symmetrica hereditaria
p.Asn692= Single submitter dyschromatosis symmetrica hereditaria
p.Asn704= Single submitter dyschromatosis symmetrica hereditaria
p.Asn724= Single submitter Aicardi-Goutieres syndrome 6
p.Asn796= Single submitter Aicardi-Goutieres syndrome 6
p.Asn907= Single submitter dyschromatosis symmetrica hereditaria
p.Asp1017= Single submitter dyschromatosis symmetrica hereditaria
p.Asp1140= Single submitter dyschromatosis symmetrica hereditaria
p.Asp224= Single submitter Aicardi-Goutieres syndrome 6
p.Asp295= Single submitter Aicardi-Goutieres syndrome 6
p.Asp329= Single submitter dyschromatosis symmetrica hereditaria
p.Asp357= Single submitter Aicardi-Goutieres syndrome 6
p.Asp448= Single submitter Aicardi-Goutieres syndrome 6
p.Asp458= Single submitter dyschromatosis symmetrica hereditaria
p.Asp703His Single submitter Aicardi-Goutieres syndrome 6
p.Asp748= Single submitter dyschromatosis symmetrica hereditaria
p.Asp973= Single submitter dyschromatosis symmetrica hereditaria
p.Asp978= Single submitter dyschromatosis symmetrica hereditaria
p.Cys1036= Single submitter Aicardi-Goutieres syndrome 6
p.Cys1081= Single submitter dyschromatosis symmetrica hereditaria
p.Cys1129= Single submitter dyschromatosis symmetrica hereditaria
p.Cys1169= Single submitter Aicardi-Goutieres syndrome 6
p.Cys125= Single submitter dyschromatosis symmetrica hereditaria
p.Cys304= Single submitter dyschromatosis symmetrica hereditaria
p.Cys499= Single submitter dyschromatosis symmetrica hereditaria
p.Cys976= Single submitter dyschromatosis symmetrica hereditaria
p.Gln102= Single submitter dyschromatosis symmetrica hereditaria

Uncertain significance 882

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

p.Ala220_Gly268del Multiple submitters dyschromatosis symmetrica hereditaria
p.Ala468Ser Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Ala469Ser Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ala515Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala549Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala654Thr Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Ala735Thr Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Ala742Thr Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ala787Val Multiple submitters Inborn genetic diseases ⚠
p.Ala970Thr Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Arg1026Trp Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Arg1032His Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Arg1150Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1174Cys Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Arg328Gln Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Arg360Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg467His Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Arg474Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg489Gln Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Arg790His Multiple submitters Inborn genetic diseases ⚠
p.Arg850Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg987His Multiple submitters Inborn genetic diseases ⚠
p.Asn205Lys Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Asn321Ser Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Asn368Ile Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Asn439Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn439Ser Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Asp1093Gly Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Asp240His Multiple submitters Inborn genetic diseases ⚠
p.Asp289His Multiple submitters Inborn genetic diseases ⚠
p.Asp312Val Multiple submitters Inborn genetic diseases ⚠
p.Asp336Asn Multiple submitters ADAR-related disorder ⚠
p.Asp342Asn Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Asp342Tyr Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Asp458Asn Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Asp748Asn Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Cys1129Phe Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Cys851Tyr Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Gln139Glu Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Gln693Glu Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Glu1014Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu132Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu410Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu520Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu594Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu594Lys Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Glu631Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu700Gly Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Glu985Gly Multiple submitters Inborn genetic diseases ⚠
p.Gly1050Arg Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Gly183Ser Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Gly215Ser Multiple submitters ADAR-related disorder ⚠
p.Gly33Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly471Val Multiple submitters Inborn genetic diseases ⚠
p.Gly865Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly918Ala Multiple submitters Inborn genetic diseases ⚠
p.His110Tyr Multiple submitters Inborn genetic diseases ⚠
p.His159Asp Multiple submitters Inborn genetic diseases ⚠
p.His354Gln Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.His586Arg Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.His681Arg Multiple submitters Inborn genetic diseases ⚠
p.His738Arg Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ile524Val Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ile793Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile873Val Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ile920Leu Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Leu390Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu68Val Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Leu792Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys1167Gln Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Lys145Arg Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Lys366Arg Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Lys929Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys944Gln Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Lys944Glu Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Lys974Glu Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Met1Val Multiple submitters dyschromatosis symmetrica hereditaria
p.Met403Val Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Met566Leu Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Phe39Val Multiple submitters Inborn genetic diseases ⚠
p.Phe75Cys Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Phe852Val Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Phe919Tyr Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Pro168Leu Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Pro168Thr Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Pro262Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro350Leu Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Pro351Ser Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Pro3Ala Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Pro434Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro435Leu Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Pro55Leu Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Pro62Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro76Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro942Ser Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Pro965Leu Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ser1114Cys Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ser1170Phe Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ser281Gly Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Ser371Asn Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ser484Gly Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ser581Pro Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ser690Phe Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ser862Ala Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Ser878Pro Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Thr1021Met Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Thr1145Ala Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Thr1194Met Multiple submitters Inborn genetic diseases ⚠
p.Thr167Ile Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Thr369Arg Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Thr567Lys Multiple submitters Inborn genetic diseases ⚠
p.Thr589Ala Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Thr589Arg Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Thr601Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr607Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr725Ala Multiple submitters Inborn genetic diseases ⚠
p.Val1101Ile Multiple submitters dyschromatosis symmetrica hereditaria ⚠
p.Val1101Phe Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Val259Met Multiple submitters Inborn genetic diseases ⚠
p.Val759Ile Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Val772Ile Multiple submitters Aicardi-Goutieres syndrome 6 ⚠
p.Val955Leu Multiple submitters Inborn genetic diseases ⚠
c.15+1988T>G Single submitter
c.15+4A>G Single submitter dyschromatosis symmetrica hereditaria
c.15+6C>G Single submitter Aicardi-Goutieres syndrome 6
c.15+6C>T Single submitter Aicardi-Goutieres syndrome 6
c.1602-3A>G Single submitter dyschromatosis symmetrica hereditaria
c.1785+3A>G Single submitter dyschromatosis symmetrica hereditaria
c.1785+4G>A Single submitter dyschromatosis symmetrica hereditaria
c.1934+4T>C Single submitter dyschromatosis symmetrica hereditaria
c.1934+8C>G Single submitter dyschromatosis symmetrica hereditaria
c.2080-11T>G Single submitter dyschromatosis symmetrica hereditaria
c.2080-3T>C Single submitter dyschromatosis symmetrica hereditaria
c.2080-6C>T Single submitter dyschromatosis symmetrica hereditaria
c.2270+10C>T Single submitter dyschromatosis symmetrica hereditaria
c.2270+3G>T Single submitter dyschromatosis symmetrica hereditaria
c.2270+4A>C Single submitter
c.2270+4A>G Single submitter dyschromatosis symmetrica hereditaria
c.2270+6T>G Single submitter dyschromatosis symmetrica hereditaria
c.2271-3A>G Single submitter Aicardi-Goutieres syndrome 6
c.2497-3C>T Single submitter dyschromatosis symmetrica hereditaria
c.2668+4A>G Single submitter Aicardi-Goutieres syndrome 6
c.2668+6T>G Single submitter dyschromatosis symmetrica hereditaria
c.2762+6C>G Single submitter Aicardi-Goutieres syndrome 6
c.2762+9G>A Single submitter Aicardi-Goutieres syndrome 6
c.2763-10_2763-7del Single submitter Aicardi-Goutieres syndrome 6
c.2763-20A>G Single submitter dyschromatosis symmetrica hereditaria
c.2886-5T>C Single submitter dyschromatosis symmetrica hereditaria
c.3019+4A>G Single submitter dyschromatosis symmetrica hereditaria
c.3020-10T>G Single submitter dyschromatosis symmetrica hereditaria
c.3202+3A>G Single submitter dyschromatosis symmetrica hereditaria
c.3202+6G>A Single submitter dyschromatosis symmetrica hereditaria
c.3315+3G>C Single submitter
c.3315+6A>C Single submitter dyschromatosis symmetrica hereditaria
c.3316-3T>A Single submitter dyschromatosis symmetrica hereditaria
c.3443+1G>T Single submitter dyschromatosis symmetrica hereditaria
c.3443+3A>G Single submitter dyschromatosis symmetrica hereditaria
c.3443+3A>T Single submitter dyschromatosis symmetrica hereditaria
c.-154C>T Single submitter dyschromatosis symmetrica hereditaria
c.-85G>A Single submitter dyschromatosis symmetrica hereditaria
c.*1036C>G Single submitter dyschromatosis symmetrica hereditaria
c.*1104T>C Single submitter dyschromatosis symmetrica hereditaria
c.*1192C>T Single submitter dyschromatosis symmetrica hereditaria
c.*1221C>T Single submitter dyschromatosis symmetrica hereditaria
c.*1322A>G Single submitter dyschromatosis symmetrica hereditaria
c.*1336A>G Single submitter dyschromatosis symmetrica hereditaria
c.*1344G>A Single submitter dyschromatosis symmetrica hereditaria
c.*1406A>C Single submitter dyschromatosis symmetrica hereditaria
c.*1454C>G Single submitter dyschromatosis symmetrica hereditaria
c.*1566T>G Single submitter dyschromatosis symmetrica hereditaria
c.*1712C>G Single submitter dyschromatosis symmetrica hereditaria
c.*1728C>T Single submitter dyschromatosis symmetrica hereditaria
c.*1751T>G Single submitter dyschromatosis symmetrica hereditaria
c.*1871A>G Single submitter dyschromatosis symmetrica hereditaria
c.*1919T>G Single submitter dyschromatosis symmetrica hereditaria
c.*2134T>C Single submitter dyschromatosis symmetrica hereditaria
c.*2153T>C Single submitter dyschromatosis symmetrica hereditaria
c.*2316G>A Single submitter dyschromatosis symmetrica hereditaria
c.*2317C>T Single submitter dyschromatosis symmetrica hereditaria
c.*2323_*2330dup Single submitter
c.*2586C>T Single submitter dyschromatosis symmetrica hereditaria
c.*2636G>A Single submitter dyschromatosis symmetrica hereditaria
c.*301C>T Single submitter dyschromatosis symmetrica hereditaria
c.*317T>G Single submitter dyschromatosis symmetrica hereditaria
c.*323G>C Single submitter dyschromatosis symmetrica hereditaria
c.*361C>G Single submitter dyschromatosis symmetrica hereditaria
c.*468G>A Single submitter dyschromatosis symmetrica hereditaria
c.*479T>C Single submitter dyschromatosis symmetrica hereditaria
c.*527A>G Single submitter dyschromatosis symmetrica hereditaria
c.*590G>A Single submitter dyschromatosis symmetrica hereditaria
c.*60G>A Single submitter dyschromatosis symmetrica hereditaria
c.*612A>T Single submitter dyschromatosis symmetrica hereditaria
c.*714G>A Single submitter dyschromatosis symmetrica hereditaria
c.*749G>A Single submitter dyschromatosis symmetrica hereditaria
c.*812C>T Single submitter dyschromatosis symmetrica hereditaria
c.*825G>A Single submitter dyschromatosis symmetrica hereditaria
c.*884C>T Single submitter dyschromatosis symmetrica hereditaria
c.*885G>A Single submitter dyschromatosis symmetrica hereditaria
c.*989C>T Single submitter dyschromatosis symmetrica hereditaria
p.Ala1051Gly Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala1131Ser Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala1189Val Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala1195Gly Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala189Thr Single submitter Inborn genetic diseases ⚠
p.Ala189Val Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala198Glu Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala198Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala198Val Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala220Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala247Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala250Val Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala252Gly Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala252Ser Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala286Val Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala315Gly Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala315Ser Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala376Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala378Ser Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala378Val Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala379Leu Single submitter dyschromatosis symmetrica hereditaria
p.Ala425Val Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala468Thr Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala512Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala549Asp Single submitter ⚠
p.Ala549Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala561Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala561Val Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala573_Lys574insGluAla Single submitter dyschromatosis symmetrica hereditaria
p.Ala597Ser Single submitter Inborn genetic diseases ⚠
p.Ala662Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala668Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala672Val Single submitter ⚠
p.Ala673Glu Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala676Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala679Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala684Val Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala774Thr Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala774Val Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala787Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala799Gly Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala813Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala828Val Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala871= Single submitter
p.Ala871Thr Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala871Val Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala935Pro Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Ala935Val Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Ala970Gly Single submitter ⚠
p.Ala980Asp Single submitter Inborn genetic diseases ⚠
p.Ala980Ser Single submitter Inborn genetic diseases ⚠
p.Ala980Val Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1001Cys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1001His Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg100Ala Single submitter dyschromatosis symmetrica hereditaria
p.Arg1026Gln Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1032Cys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1032Ser Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg1032Tyr Single submitter dyschromatosis symmetrica hereditaria
p.Arg1042Ser Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1078His Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1078Pro Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1083His Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg1096Gln Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg1096Gly Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg114Cys Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg114His Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1155Gln Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg116Ser Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1172Cys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1174Gly Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1174His Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1190Cys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg1190Gly Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg1190His Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg232Gly Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg232Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg345Lys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg362Lys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg367Gly Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg385Lys Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg431Thr Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg467Cys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg489Pro Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg489Trp Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg4Pro Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg544Gln Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg633Gly Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg633His Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg714Gly Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg72Gln Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg736Cys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg736His Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg74Gly Single submitter ⚠
p.Arg74Lys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg767Cys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg790Cys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg801Cys Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg801Gly Single submitter dyschromatosis symmetrica hereditaria ⚠
p.Arg801His Single submitter Aicardi-Goutieres syndrome 6 ⚠
p.Arg817Ile Single submitter dyschromatosis symmetrica hereditaria ⚠