ATP6V0A2 — 780 ClinVar variants

All ClinVar germline ATP6V0A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 265 flagged for review →

44 Pathogenic · 2 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 33 Conflicting · 82 Benign · 11 Benign/Likely benign · 267 Likely benign · 314 Uncertain significance

Full ATP6V0A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 265

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 agree, ClinVar conflicts 5

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

ATP6V0A2 p.Ala496Thr Conflicting Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ala795Val Conflicting Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.His130Tyr Conflicting Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Met357Leu Conflicting Single submitter
Inborn genetic diseases
ATP6V0A2 p.Pro405Leu Conflicting Single submitter
autosomal recessive cutis laxa type 2A

Predictors lean, ClinVar uncertain 161

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 161

ATP6V0A2 p.Ala28Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Ala657Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Ala722Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Ala758Val Uncertain significance Multiple submitters
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Arg141His Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Arg269Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Arg269His Uncertain significance Multiple submitters
ATP6V0A2 p.Arg340Gln Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg369Gln Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg451Trp Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg650Gly Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg780His Uncertain significance Multiple submitters
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Asn477Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Asp158Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Asp243Gly Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Asp706Asn Uncertain significance Multiple submitters
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Asp852Asn Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Gln765Arg Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Glu105Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Glu257Lys Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Glu264Gly Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Glu293Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Glu332Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Gly265Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Gly265Glu Uncertain significance Multiple submitters
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Gly389Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Gly416Arg Uncertain significance Multiple submitters
ATP6V0A2 p.Ile180Thr Uncertain significance Multiple submitters
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Ile220Val Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ile353Val Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ile453Val Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ile597Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Ile691Thr Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu192Phe Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu273Arg Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu663His Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Lys103Asn Uncertain significance Multiple submitters
ATP6VOA2-related disorder
ATP6V0A2 p.Lys172Arg Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Lys290Glu Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Lys848Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Met97Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Phe145Leu Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Phe408Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Phe550Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Phe849Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Pro147Leu Uncertain significance Multiple submitters
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Pro366Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Pro367Arg Uncertain significance Multiple submitters
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Thr200Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Thr376Ala Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Thr9Ile Uncertain significance Multiple submitters
wrinkly skin syndrome
ATP6V0A2 p.Tyr386Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Val295Ile Uncertain significance Multiple submitters
wrinkly skin syndrome
ATP6V0A2 p.Val383Met Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Val556Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Val556Met Uncertain significance Multiple submitters
wrinkly skin syndrome
ATP6V0A2 p.Val611Phe Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Val831Ile Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ala22Val Uncertain significance Single submitter
ATP6V0A2 p.Ala333Val Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ala620Asp Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ala772Pro Uncertain significance Single submitter
ATP6V0A2 p.Arg260Lys Uncertain significance Single submitter
ATP6V0A2 p.Arg298Cys Uncertain significance Single submitter
ATP6V0A2 p.Arg339Pro Uncertain significance Single submitter
ATP6V0A2 p.Arg526Gln Uncertain significance Single submitter
ATP6V0A2 p.Arg543His Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg57Ser Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Arg57Thr Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Asn142Ser Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Asn321Ser Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Asn676Lys Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Asp853Gly Uncertain significance Single submitter
ATP6V0A2 p.Cys196Trp Uncertain significance Single submitter
ATP6V0A2 p.Cys242Gly Uncertain significance Single submitter
ATP6V0A2 p.Cys323Tyr Uncertain significance Single submitter
ATP6V0A2 p.Gln100Glu Uncertain significance Single submitter
ATP6V0A2 p.Gln167Arg Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Gln286Glu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Gln336Arg Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Glu124Lys Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Glu156Gln Uncertain significance Single submitter
ATP6V0A2 p.Glu327Gln Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Glu393Asp Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Glu741Asp Uncertain significance Single submitter
wrinkly skin syndrome
ATP6V0A2 p.Gly183Glu Uncertain significance Single submitter
ATP6V0A2 p.Gly198Ala Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Gly33Val Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Gly416Glu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Gly677Glu Uncertain significance Single submitter
ATP6V0A2 p.Gly682Arg Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Gly703Arg Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Gly717Arg Uncertain significance Single submitter
ATP6V0A2 p.Gly834Asp Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.His130Gln Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.His417Arg Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.His434Asn Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.His498Arg Uncertain significance Single submitter
ATP6V0A2 p.Ile227Met Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ile227Val Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ile241Leu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ile262Met Uncertain significance Single submitter
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Ile360Thr Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ile707Thr Uncertain significance Single submitter
ATP6V0A2 p.Ile731Met Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ile77Ser Uncertain significance Single submitter
ATP6V0A2 p.Leu398Pro Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu437Ile Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu478Val Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu503Phe Uncertain significance Single submitter
ATP6VOA2-related disorder
ATP6V0A2 p.Leu558Val Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Leu575Val Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu669Arg Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu844Arg Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu844Val Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Lys136Gln Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Lys136Glu Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Lys474Glu Uncertain significance Single submitter
ATP6V0A2 p.Lys499Glu Uncertain significance Single submitter
ATP6V0A2 p.Met131Val Uncertain significance Single submitter
ATP6V0A2 p.Met411Leu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Met457Thr Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Met501Ile Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Phe138Ser Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Phe188Leu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Phe399Ser Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Phe51Cys Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Phe664Leu Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Phe814Tyr Uncertain significance Single submitter
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Phe837Leu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Pro367Ala Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Pro367Leu Uncertain significance Single submitter
ATP6V0A2 p.Pro494Leu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Pro495Leu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Pro589Ser Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ser490Gly Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ser492Ile Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ser686Asn Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ser752Phe Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ser846Leu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Thr137Ala Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Thr268Ser Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Thr365Ile Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Thr643Ala Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Thr734Asn Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Tyr128His Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Tyr223Cys Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Tyr296Cys Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Tyr452Ser Uncertain significance Single submitter
ATP6V0A2 p.Tyr468Cys Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 99

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

ATP6V0A2 p.Ala307Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Ala817Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Arg259Gln Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg339Cys Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg339His Benign Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg340Trp Uncertain significance Multiple submitters
wrinkly skin syndrome
ATP6V0A2 p.Arg371Cys Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg371His Uncertain significance Multiple submitters
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Arg543Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Arg63Gln Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg678His Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg776His Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg780Cys Uncertain significance Multiple submitters
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Asn477Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Asn629Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Asn749Ser Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Glu186Gly Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Glu218Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Glu377Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Gly350Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Gly729Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Gly778Val Uncertain significance Multiple submitters
wrinkly skin syndrome
ATP6V0A2 p.Leu669Val Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Lys374Arg Benign Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Lys374Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Met10Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Met357Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Pro522Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Pro661Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Ser486Leu Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ser520Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Thr137Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Thr255Ile Uncertain significance Multiple submitters
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Val202Met Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Val249Met Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Val485Met Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Val509Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATP6V0A2 p.Ala205Val Conflicting Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ala292Thr Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ala326Ser Conflicting Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ala333Pro Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ala341Glu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ala795Thr Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ala88Val Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg141Leu Conflicting Single submitter
wrinkly skin syndrome
ATP6V0A2 p.Arg298His Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Arg510Ile Uncertain significance Single submitter
ATP6V0A2 p.Arg678Cys Uncertain significance Single submitter
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Arg6Gln Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Asn373Ser Conflicting Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Asn431Asp Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Asn43Ser Uncertain significance Single submitter
ATP6V0A2 p.Asn538Thr Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Asn827Asp Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Asp334Tyr Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Asp384Glu Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Cys746Gly Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Gln645Arg Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Glu218Asp Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Glu218Gln Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Glu258Gly Conflicting Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Glu281Lys Uncertain significance Single submitter
ATP6V0A2 p.Glu432Gly Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Glu697Lys Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Glu720Gln Uncertain significance Single submitter
ATP6V0A2 p.Glu724Gly Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.His248Arg Uncertain significance Single submitter
ATP6V0A2 p.His574Arg Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ile467Met Uncertain significance Single submitter
ATP6V0A2 p.Ile467Val Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Ile521Thr Uncertain significance Single submitter
ATP6V0A2 p.Ile740Met Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Leu125Met Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu161Trp Uncertain significance Single submitter
ATP6V0A2 p.Leu569Val Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Leu672Ser Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu779Val Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Leu845Phe Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Lys240Arg Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Lys667Glu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Met10Leu Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Met305Val Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Met314Thr Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Met554Thr Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Met594Val Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Phe633Leu Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Pro361Thr Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Pro522His Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Pro792Ser Uncertain significance Single submitter
ATP6V0A2 p.Pro90Thr Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ser316Gly Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ser346Leu Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Ser520Gly Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Thr362Ala Uncertain significance Single submitter
ATP6V0A2 p.Thr464Ser Likely benign Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Tyr607Cys Uncertain significance Single submitter
autosomal recessive cutis laxa type 2A
ATP6V0A2 p.Tyr688His Uncertain significance Single submitter
Inborn genetic diseases
ATP6V0A2 p.Tyr785Cys Uncertain significance Single submitter
ALG9-congenital disorder of glycosylation
ATP6V0A2 p.Val660Ile Uncertain significance Single submitter
Inborn genetic diseases

All ATP6V0A2 variants

Pathogenic 44

c.732-2A>G Multiple submitters ALG9-congenital disorder of glycosylation
p.Arg133delinsThrCysTer Multiple submitters autosomal recessive cutis laxa type 2A
p.Arg526Ter Multiple submitters ALG9-congenital disorder of glycosylation
p.Arg63Ter Multiple submitters cutis laxa
p.Asn43_Val44insTer Multiple submitters wrinkly skin syndrome
p.Gln102Ter Multiple submitters
p.Gln765Ter Multiple submitters ALG9-congenital disorder of glycosylation
p.Ser355fs Multiple submitters ALG9-congenital disorder of glycosylation
c.1605+1G>A Single submitter ALG9-congenital disorder of glycosylation
c.825+2T>C Single submitter
p.Arg38Ter Single submitter ALG9-congenital disorder of glycosylation
p.Asn358_Ile359insTer Single submitter ALG9-congenital disorder of glycosylation
p.Asp768fs Single submitter ALG9-congenital disorder of glycosylation
p.Gln649fs Single submitter ALG9-congenital disorder of glycosylation
p.Gln705Ter Single submitter autosomal recessive cutis laxa type 2A
p.Gln735Ter Single submitter ALG9-congenital disorder of glycosylation
p.Glu293Ter Single submitter ALG9-congenital disorder of glycosylation
p.Glu442Ter Single submitter ALG9-congenital disorder of glycosylation
p.Gly178_Leu179insTer Single submitter autosomal recessive cutis laxa type 2A
p.Ile126fs Single submitter ALG9-congenital disorder of glycosylation
p.Ile201fs Single submitter cutis laxa
p.Ile514delinsLysArgArgTer Single submitter ALG9-congenital disorder of glycosylation
p.Leu101Ter Single submitter ALG9-congenital disorder of glycosylation
p.Leu335fs Single submitter autosomal recessive cutis laxa type 2A
p.Leu65fs Single submitter
p.Leu665Ter Single submitter ALG9-congenital disorder of glycosylation
p.Leu672Ter Single submitter ALG9-congenital disorder of glycosylation
p.Lys304_Met305insTer Single submitter ALG9-congenital disorder of glycosylation
p.Phe412fs Single submitter
p.Phe593fs Single submitter autosomal recessive cutis laxa type 2A
p.Pro535fs Single submitter ALG9-congenital disorder of glycosylation
p.Trp222Ter Single submitter ALG9-congenital disorder of glycosylation
p.Trp771Ter Single submitter ALG9-congenital disorder of glycosylation
p.Tyr23Ter Single submitter ATP6V0A2-related disorder
p.Tyr283_Leu284insTer Single submitter ALG9-congenital disorder of glycosylation
p.Tyr309fs Single submitter ALG9-congenital disorder of glycosylation
p.Tyr642Ter Single submitter ALG9-congenital disorder of glycosylation
p.Tyr753fs Single submitter ALG9-congenital disorder of glycosylation
p.Val195fs Single submitter ALG9-congenital disorder of glycosylation
p.Val611fs Single submitter ALG9-congenital disorder of glycosylation
c.1936-147_2055+113del No assertion criteria autosomal recessive cutis laxa type 2A
c.2176-3_2176-2del No assertion criteria autosomal recessive cutis laxa type 2A
c.294+1G>A No assertion criteria wrinkly skin syndrome
p.Gly786fs No assertion criteria autosomal recessive cutis laxa type 2A

Pathogenic/Likely pathogenic 2

c.1514+1G>A Multiple submitters wrinkly skin syndrome
p.Gln70Ter Multiple submitters wrinkly skin syndrome

Likely pathogenic 27

c.117+1del Multiple submitters autosomal recessive cutis laxa type 2A
c.1724+2T>C Multiple submitters wrinkly skin syndrome
c.2293+1G>A Multiple submitters ALG9-congenital disorder of glycosylation
p.Ala397Pro Multiple submitters ALG9-congenital disorder of glycosylation
c.1039-1G>A Single submitter ALG9-congenital disorder of glycosylation
c.118-1G>A Single submitter ALG9-congenital disorder of glycosylation
c.118-1G>T Single submitter ALG9-congenital disorder of glycosylation
c.1501_1514+15del Single submitter wrinkly skin syndrome
c.1935+1G>C Single submitter autosomal recessive cutis laxa type 2A
c.197-1G>A Single submitter wrinkly skin syndrome
c.2056-2A>G Single submitter ALG9-congenital disorder of glycosylation
c.2466-2A>G Single submitter ALG9-congenital disorder of glycosylation
p.Ala798fs Single submitter cutis laxa
p.Arg6fs Single submitter autosomal recessive cutis laxa type 2A
p.Cys242Ter Single submitter wrinkly skin syndrome
p.Gln42Ter Single submitter wrinkly skin syndrome
p.Gln713Ter Single submitter wrinkly skin syndrome
p.His417Tyr Single submitter
p.Leu815fs Single submitter wrinkly skin syndrome
p.Met1Leu Single submitter
p.Pro405fs Single submitter
p.Ser349fs Single submitter autosomal recessive cutis laxa type 2A
p.Ser473Ter Single submitter wrinkly skin syndrome
p.Trp329Ter Single submitter
p.Gln645fs No assertion criteria autosomal recessive cutis laxa type 2A
p.Leu79fs No assertion criteria autosomal recessive cutis laxa type 2, classic type
p.Trp537Arg No assertion criteria autosomal recessive cutis laxa type 2A

Conflicting classifications of pathogenicity 33

c.118-7_118-3del Single submitter ALG9-congenital disorder of glycosylation
c.1189+12G>T Single submitter autosomal recessive cutis laxa type 2A
c.1515-12T>G Single submitter autosomal recessive cutis laxa type 2A
c.2055+4A>C Single submitter Inborn genetic diseases
c.522-9G>A Single submitter ALG9-congenital disorder of glycosylation
c.*191T>C Single submitter autosomal recessive cutis laxa type 2A
c.*2875A>C Single submitter autosomal recessive cutis laxa type 2A
p.Ala205Val Single submitter Inborn genetic diseases ⚠
p.Ala326Ser Single submitter Inborn genetic diseases ⚠
p.Ala496Thr Single submitter Inborn genetic diseases ⚠
p.Ala795Val Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ala813= Single submitter ALG9-congenital disorder of glycosylation
p.Ala88= Single submitter ALG9-congenital disorder of glycosylation
p.Arg141Leu Single submitter wrinkly skin syndrome ⚠
p.Asn373Ser Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Asp318= Single submitter ALG9-congenital disorder of glycosylation
p.Cys743= Single submitter ALG9-congenital disorder of glycosylation
p.Cys746= Single submitter ALG9-congenital disorder of glycosylation
p.Gln441= Single submitter ALG9-congenital disorder of glycosylation
p.Glu258Gly Single submitter ALG9-congenital disorder of glycosylation ⚠
p.His130Tyr Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ile201= Single submitter ALG9-congenital disorder of glycosylation
p.Leu104= Single submitter autosomal recessive cutis laxa type 2A
p.Leu338= Single submitter ALG9-congenital disorder of glycosylation
p.Leu672= Single submitter ALG9-congenital disorder of glycosylation
p.Lys172= Single submitter ALG9-congenital disorder of glycosylation
p.Met357Leu Single submitter Inborn genetic diseases ⚠
p.Pro331= Single submitter ALG9-congenital disorder of glycosylation
p.Pro405Leu Single submitter autosomal recessive cutis laxa type 2A ⚠
p.Ser486= Single submitter ALG9-congenital disorder of glycosylation
p.Ser507= Single submitter ALG9-congenital disorder of glycosylation
p.Tyr149= Single submitter autosomal recessive cutis laxa type 2A
p.Val508= Single submitter autosomal recessive cutis laxa type 2A

Benign 82

c.1039-14T>C Multiple submitters autosomal recessive cutis laxa type 2A
c.117+14G>A Multiple submitters ALG9-congenital disorder of glycosylation
c.117+51A>C Multiple submitters
c.1606-12G>A Multiple submitters ALG9-congenital disorder of glycosylation
c.1724+20del Multiple submitters ALG9-congenital disorder of glycosylation
c.2055+114A>G Multiple submitters
c.2465+58T>C Multiple submitters
c.2466-3del Multiple submitters ALG9-congenital disorder of glycosylation
c.294+103T>C Multiple submitters wrinkly skin syndrome
c.294+214C>T Multiple submitters
c.295-190G>A Multiple submitters
c.432+14C>T Multiple submitters ALG9-congenital disorder of glycosylation
c.522-49A>G Multiple submitters
c.649-114T>G Multiple submitters autosomal recessive cutis laxa type 2A
c.732-23T>C Multiple submitters autosomal recessive cutis laxa type 2A
c.825+183A>C Multiple submitters
c.*1128T>C Multiple submitters autosomal recessive cutis laxa type 2A
c.*1600G>A Multiple submitters autosomal recessive cutis laxa type 2A
c.*1693C>G Multiple submitters autosomal recessive cutis laxa type 2A
c.*2357C>T Multiple submitters autosomal recessive cutis laxa type 2A
c.*2877T>A Multiple submitters autosomal recessive cutis laxa type 2A
c.*3227C>G Multiple submitters autosomal recessive cutis laxa type 2A
c.*3235A>G Multiple submitters autosomal recessive cutis laxa type 2A
c.*3425G>A Multiple submitters autosomal recessive cutis laxa type 2A
c.*3553G>A Multiple submitters autosomal recessive cutis laxa type 2A
c.*3603G>A Multiple submitters autosomal recessive cutis laxa type 2A
c.*574C>T Multiple submitters autosomal recessive cutis laxa type 2A
p.Ala813Val Multiple submitters ALG9-congenital disorder of glycosylation
p.Arg259= Multiple submitters autosomal recessive cutis laxa type 2A
p.Arg339His Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Asn142= Multiple submitters ALG9-congenital disorder of glycosylation
p.Asn505= Multiple submitters ALG9-congenital disorder of glycosylation
p.Asn850Ser Multiple submitters ALG9-congenital disorder of glycosylation
p.Lys374Arg Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Pro530= Multiple submitters autosomal recessive cutis laxa type 2A
p.Ser157= Multiple submitters ALG9-congenital disorder of glycosylation
c.1039-123del Single submitter
c.118-6del Single submitter ALG9-congenital disorder of glycosylation
c.1190-123C>T Single submitter
c.1190-7del Single submitter ALG9-congenital disorder of glycosylation
c.1190-7dup Single submitter ALG9-congenital disorder of glycosylation
c.1606-301G>A Single submitter
c.1724+20dup Single submitter ALG9-congenital disorder of glycosylation
c.1725-10del Single submitter ALG9-congenital disorder of glycosylation
c.196+173dup Single submitter
c.196+235G>A Single submitter
c.2055+252C>T Single submitter
c.2056-333C>T Single submitter
c.2293+168_2293+171del Single submitter
c.2466-4_2466-3del Single submitter
c.2466-73dup Single submitter
c.294+217T>C Single submitter
c.295-112dup Single submitter
c.295-276del Single submitter
c.432+230C>T Single submitter
c.433-117T>C Single submitter
c.433-170A>G Single submitter
c.433-195C>T Single submitter
c.522-159T>C Single submitter
c.522-284G>C Single submitter
c.731+242A>G Single submitter
c.732-168T>C Single submitter
c.732-287C>T Single submitter
c.-378G>C Single submitter
c.-399A>T Single submitter
c.-400G>C Single submitter
c.-407A>T Single submitter
c.*1064G>A Single submitter autosomal recessive cutis laxa type 2A
c.*1122A>G Single submitter autosomal recessive cutis laxa type 2A
c.*1205C>G Single submitter autosomal recessive cutis laxa type 2A
c.*1645G>A Single submitter autosomal recessive cutis laxa type 2A
c.*1731C>T Single submitter autosomal recessive cutis laxa type 2A
c.*1837T>C Single submitter autosomal recessive cutis laxa type 2A
c.*2329G>A Single submitter autosomal recessive cutis laxa type 2A
c.*2353G>T Single submitter autosomal recessive cutis laxa type 2A
c.*2646A>G Single submitter autosomal recessive cutis laxa type 2A
c.*2710G>A Single submitter autosomal recessive cutis laxa type 2A
c.*3000G>A Single submitter autosomal recessive cutis laxa type 2A
c.*3167G>A Single submitter autosomal recessive cutis laxa type 2A
c.*3357G>C Single submitter autosomal recessive cutis laxa type 2A
c.*3654A>G Single submitter autosomal recessive cutis laxa type 2A
c.*115C>T No assertion criteria autosomal recessive cutis laxa type 2A

Benign/Likely benign 11

c.1039-12T>C Multiple submitters ALG9-congenital disorder of glycosylation
c.1327-16G>A Multiple submitters autosomal recessive cutis laxa type 2A
c.2294-4G>A Multiple submitters autosomal recessive cutis laxa type 2A
c.2466-3dup Multiple submitters ALG9-congenital disorder of glycosylation
c.522-13del Multiple submitters ALG9-congenital disorder of glycosylation
c.-14C>T Multiple submitters autosomal recessive cutis laxa type 2A
c.-222C>G Multiple submitters
p.Arg685Gln Multiple submitters ALG9-congenital disorder of glycosylation
p.Arg780= Multiple submitters ALG9-congenital disorder of glycosylation
p.Gly566= Multiple submitters autosomal recessive cutis laxa type 2A
p.Val420Leu Multiple submitters ALG9-congenital disorder of glycosylation

Likely benign 267

c.1039-127A>C Multiple submitters
c.1039-13G>T Multiple submitters ALG9-congenital disorder of glycosylation
c.1039-32T>A Multiple submitters
c.1039-94C>A Multiple submitters
c.117+81G>T Multiple submitters
c.118-73G>A Multiple submitters
c.1190-115T>C Multiple submitters
c.1724+20T>A Multiple submitters ALG9-congenital disorder of glycosylation
c.1936-7C>T Multiple submitters ALG9-congenital disorder of glycosylation
c.196+15T>G Multiple submitters ALG9-congenital disorder of glycosylation
c.2056-14C>G Multiple submitters ALG9-congenital disorder of glycosylation
c.521+14C>G Multiple submitters ALG9-congenital disorder of glycosylation
c.521+14C>T Multiple submitters ALG9-congenital disorder of glycosylation
c.521+17G>A Multiple submitters ALG9-congenital disorder of glycosylation
c.521+40C>T Multiple submitters
c.649-36G>A Multiple submitters
c.732-102G>A Multiple submitters
c.732-23T>G Multiple submitters
p.Ala657= Multiple submitters ALG9-congenital disorder of glycosylation
p.Ala722= Multiple submitters ALG9-congenital disorder of glycosylation
p.Arg285= Multiple submitters ALG9-congenital disorder of glycosylation
p.Asn484= Multiple submitters ALG9-congenital disorder of glycosylation
p.Gly265= Multiple submitters ALG9-congenital disorder of glycosylation
p.Leu398= Multiple submitters ALG9-congenital disorder of glycosylation
p.Leu770= Multiple submitters ALG9-congenital disorder of glycosylation
p.Leu774= Multiple submitters ALG9-congenital disorder of glycosylation
p.Leu789= Multiple submitters ALG9-congenital disorder of glycosylation
p.Phe681= Multiple submitters ALG9-congenital disorder of glycosylation
p.Pro405= Multiple submitters ALG9-congenital disorder of glycosylation
p.Pro495= Multiple submitters ALG9-congenital disorder of glycosylation
p.Pro792= Multiple submitters ALG9-congenital disorder of glycosylation
p.Ser748= Multiple submitters ALG9-congenital disorder of glycosylation
p.Val823= Multiple submitters ALG9-congenital disorder of glycosylation
c.1038+15C>T Single submitter ALG9-congenital disorder of glycosylation
c.1038+19C>T Single submitter ALG9-congenital disorder of glycosylation
c.1038+20_1038+22del Single submitter ALG9-congenital disorder of glycosylation
c.1039-110A>C Single submitter
c.1039-13G>A Single submitter ALG9-congenital disorder of glycosylation
c.1039-15T>C Single submitter ALG9-congenital disorder of glycosylation
c.1039-303C>T Single submitter
c.117+12C>T Single submitter ALG9-congenital disorder of glycosylation
c.117+17_117+20delinsTCT Single submitter
c.117+18_117+19del Single submitter ALG9-congenital disorder of glycosylation
c.117+19A>T Single submitter ALG9-congenital disorder of glycosylation
c.117+20_117+21insT Single submitter ALG9-congenital disorder of glycosylation
c.117+20C>G Single submitter ALG9-congenital disorder of glycosylation
c.117+7del Single submitter ALG9-congenital disorder of glycosylation
c.117+7G>A Single submitter ALG9-congenital disorder of glycosylation
c.118-12T>C Single submitter ALG9-congenital disorder of glycosylation
c.118-13A>G Single submitter ALG9-congenital disorder of glycosylation
c.118-4T>C Single submitter ALG9-congenital disorder of glycosylation
c.118-9T>G Single submitter ALG9-congenital disorder of glycosylation
c.1326+13dup Single submitter ALG9-congenital disorder of glycosylation
c.1326+14C>T Single submitter ALG9-congenital disorder of glycosylation
c.1326+7_1326+15dup Single submitter ALG9-congenital disorder of glycosylation
c.1326+7A>C Single submitter ALG9-congenital disorder of glycosylation
c.1326+8T>C Single submitter ALG9-congenital disorder of glycosylation
c.1327-17C>T Single submitter ALG9-congenital disorder of glycosylation
c.1514+16C>T Single submitter ALG9-congenital disorder of glycosylation
c.1515-14G>T Single submitter ALG9-congenital disorder of glycosylation
c.1515-16_1515-15del Single submitter ALG9-congenital disorder of glycosylation
c.1515-7_1515-5del Single submitter ALG9-congenital disorder of glycosylation
c.1515-8T>G Single submitter ALG9-congenital disorder of glycosylation
c.1515-9T>C Single submitter ALG9-congenital disorder of glycosylation
c.1515-9T>G Single submitter ALG9-congenital disorder of glycosylation
c.1605+10C>T Single submitter ALG9-congenital disorder of glycosylation
c.1605+13C>T Single submitter ALG9-congenital disorder of glycosylation
c.1605+16T>G Single submitter ALG9-congenital disorder of glycosylation
c.1724+11A>T Single submitter ALG9-congenital disorder of glycosylation
c.1725-19G>T Single submitter ALG9-congenital disorder of glycosylation
c.1725-6T>G Single submitter ALG9-congenital disorder of glycosylation
c.1935+8A>G Single submitter ALG9-congenital disorder of glycosylation
c.1936-147C>T Single submitter
c.196+11T>G Single submitter ALG9-congenital disorder of glycosylation
c.196+8T>A Single submitter ALG9-congenital disorder of glycosylation
c.196+8T>C Single submitter ALG9-congenital disorder of glycosylation
c.197-14T>A Single submitter ALG9-congenital disorder of glycosylation
c.197-263T>C Single submitter
c.197-283A>G Single submitter
c.197-4A>G Single submitter ALG9-congenital disorder of glycosylation
c.2055+15G>A Single submitter ALG9-congenital disorder of glycosylation
c.2055+166C>G Single submitter
c.2055+18_2055+24dup Single submitter ALG9-congenital disorder of glycosylation
c.2055+8C>A Single submitter ALG9-congenital disorder of glycosylation
c.2055+8C>T Single submitter ALG9-congenital disorder of glycosylation
c.2055+9G>A Single submitter ALG9-congenital disorder of glycosylation
c.2056-10T>C Single submitter ALG9-congenital disorder of glycosylation
c.2056-14C>T Single submitter ALG9-congenital disorder of glycosylation
c.2056-18_2056-17del Single submitter ALG9-congenital disorder of glycosylation
c.2056-20T>C Single submitter ALG9-congenital disorder of glycosylation
c.2056-5G>C Single submitter ALG9-congenital disorder of glycosylation
c.2175+10T>C Single submitter ALG9-congenital disorder of glycosylation
c.2175+267G>A Single submitter
c.2176-14G>A Single submitter ALG9-congenital disorder of glycosylation
c.2176-14G>C Single submitter ALG9-congenital disorder of glycosylation
c.2176-20T>C Single submitter ALG9-congenital disorder of glycosylation
c.2176-8T>C Single submitter ALG9-congenital disorder of glycosylation
c.2293+10T>C Single submitter ALG9-congenital disorder of glycosylation
c.2293+13_2293+22del Single submitter ALG9-congenital disorder of glycosylation
c.2293+14T>A Single submitter ALG9-congenital disorder of glycosylation
c.2293+18C>T Single submitter ALG9-congenital disorder of glycosylation
c.2294-12A>G Single submitter ALG9-congenital disorder of glycosylation
c.2294-6T>C Single submitter ALG9-congenital disorder of glycosylation
c.2465+20T>C Single submitter ALG9-congenital disorder of glycosylation
c.2466-10T>G Single submitter ALG9-congenital disorder of glycosylation
c.2466-16C>G Single submitter ALG9-congenital disorder of glycosylation
c.2466-16C>T Single submitter ALG9-congenital disorder of glycosylation
c.2466-17_2466-16insA Single submitter ALG9-congenital disorder of glycosylation
c.2466-17G>A Single submitter ALG9-congenital disorder of glycosylation
c.2466-27T>C Single submitter
c.294+14G>A Single submitter ALG9-congenital disorder of glycosylation
c.294+15A>G Single submitter ALG9-congenital disorder of glycosylation
c.294+16C>A Single submitter ALG9-congenital disorder of glycosylation
c.294+16C>T Single submitter ALG9-congenital disorder of glycosylation
c.294+17G>A Single submitter ALG9-congenital disorder of glycosylation
c.294+18A>G Single submitter ALG9-congenital disorder of glycosylation
c.294+20G>A Single submitter ALG9-congenital disorder of glycosylation
c.295-112del Single submitter
c.295-12G>A Single submitter ALG9-congenital disorder of glycosylation
c.295-17C>A Single submitter
c.295-265G>A Single submitter
c.295-4T>A Single submitter ALG9-congenital disorder of glycosylation
c.295-7G>A Single submitter ALG9-congenital disorder of glycosylation
c.432+12C>T Single submitter
c.432+251T>C Single submitter
c.433-5T>C Single submitter ALG9-congenital disorder of glycosylation
c.433-60C>T Single submitter
c.521+11del Single submitter ALG9-congenital disorder of glycosylation
c.522-11C>T Single submitter ALG9-congenital disorder of glycosylation
c.522-306G>T Single submitter
c.522-7C>T Single submitter ALG9-congenital disorder of glycosylation
c.648+13C>T Single submitter ALG9-congenital disorder of glycosylation
c.649-15A>G Single submitter ALG9-congenital disorder of glycosylation
c.649-20T>C Single submitter ALG9-congenital disorder of glycosylation
c.731+12A>G Single submitter ALG9-congenital disorder of glycosylation
c.731+16A>G Single submitter ALG9-congenital disorder of glycosylation
c.732-11T>G Single submitter ALG9-congenital disorder of glycosylation
c.732-247C>T Single submitter
c.732-3C>T Single submitter
c.825+9G>A Single submitter ALG9-congenital disorder of glycosylation
c.826-14T>G Single submitter ALG9-congenital disorder of glycosylation
c.826-15G>A Single submitter ALG9-congenital disorder of glycosylation
c.826-18C>G Single submitter ALG9-congenital disorder of glycosylation
c.826-20C>T Single submitter ALG9-congenital disorder of glycosylation
c.826-217T>C Single submitter
c.826-89GA[3] Single submitter
c.-227A>G Single submitter
c.-511T>A Single submitter
c.*2085C>G Single submitter autosomal recessive cutis laxa type 2A
c.*2485C>T Single submitter autosomal recessive cutis laxa type 2A
c.*785T>C Single submitter autosomal recessive cutis laxa type 2A
c.*998T>C Single submitter autosomal recessive cutis laxa type 2A
p.Ala256= Single submitter ALG9-congenital disorder of glycosylation
p.Ala292= Single submitter ALG9-congenital disorder of glycosylation
p.Ala333= Single submitter ALG9-congenital disorder of glycosylation
p.Ala351= Single submitter ALG9-congenital disorder of glycosylation
p.Ala758= Single submitter ALG9-congenital disorder of glycosylation
p.Arg298= Single submitter ALG9-congenital disorder of glycosylation
p.Arg451= Single submitter ALG9-congenital disorder of glycosylation
p.Arg678= Single submitter ALG9-congenital disorder of glycosylation
p.Arg776= Single submitter ALG9-congenital disorder of glycosylation
p.Asn313= Single submitter ALG9-congenital disorder of glycosylation
p.Asn469= Single submitter ALG9-congenital disorder of glycosylation
p.Asn548= Single submitter ALG9-congenital disorder of glycosylation
p.Asn73= Single submitter ALG9-congenital disorder of glycosylation
p.Asn851= Single submitter ALG9-congenital disorder of glycosylation
p.Asp384= Single submitter
p.Asp470= Single submitter ALG9-congenital disorder of glycosylation
p.Asp716= Single submitter
p.Asp852= Single submitter ALG9-congenital disorder of glycosylation
p.Asp853= Single submitter ALG9-congenital disorder of glycosylation
p.Cys718= Single submitter ALG9-congenital disorder of glycosylation
p.Gln826= Single submitter
p.Glu127= Single submitter ALG9-congenital disorder of glycosylation
p.Glu215= Single submitter ALG9-congenital disorder of glycosylation
p.Glu24= Single submitter ALG9-congenital disorder of glycosylation
p.Glu497= Single submitter ALG9-congenital disorder of glycosylation
p.Glu697= Single submitter ALG9-congenital disorder of glycosylation
p.Glu709= Single submitter ALG9-congenital disorder of glycosylation
p.Glu741= Single submitter ALG9-congenital disorder of glycosylation
p.Glu824= Single submitter ALG9-congenital disorder of glycosylation
p.Gly198= Single submitter ALG9-congenital disorder of glycosylation
p.Gly235= Single submitter ALG9-congenital disorder of glycosylation
p.Gly416= Single submitter ALG9-congenital disorder of glycosylation
p.Gly532= Single submitter ALG9-congenital disorder of glycosylation
p.Gly559= Single submitter ALG9-congenital disorder of glycosylation
p.Gly644= Single submitter ALG9-congenital disorder of glycosylation
p.Gly717= Single submitter ALG9-congenital disorder of glycosylation
p.Gly786= Single submitter
p.His248= Single submitter ALG9-congenital disorder of glycosylation
p.His763= Single submitter ALG9-congenital disorder of glycosylation
p.His816= Single submitter ALG9-congenital disorder of glycosylation
p.Ile308= Single submitter ALG9-congenital disorder of glycosylation
p.Ile382= Single submitter ALG9-congenital disorder of glycosylation
p.Ile707Val Single submitter Inborn genetic diseases
p.Ile740= Single submitter ALG9-congenital disorder of glycosylation
p.Ile794= Single submitter ALG9-congenital disorder of glycosylation
p.Leu15= Single submitter ALG9-congenital disorder of glycosylation
p.Leu173= Single submitter ALG9-congenital disorder of glycosylation
p.Leu179= Single submitter ALG9-congenital disorder of glycosylation
p.Leu192= Single submitter ALG9-congenital disorder of glycosylation
p.Leu207= Single submitter ALG9-congenital disorder of glycosylation
p.Leu26= Single submitter ALG9-congenital disorder of glycosylation
p.Leu273= Single submitter ALG9-congenital disorder of glycosylation
p.Leu288= Single submitter ALG9-congenital disorder of glycosylation
p.Leu407= Single submitter
p.Leu437= Single submitter ALG9-congenital disorder of glycosylation
p.Leu454= Single submitter ALG9-congenital disorder of glycosylation
p.Leu517= Single submitter ALG9-congenital disorder of glycosylation
p.Leu539= Single submitter ALG9-congenital disorder of glycosylation
p.Leu547= Single submitter ALG9-congenital disorder of glycosylation
p.Leu558= Single submitter ALG9-congenital disorder of glycosylation
p.Leu585= Single submitter ALG9-congenital disorder of glycosylation
p.Leu65= Single submitter ALG9-congenital disorder of glycosylation
p.Leu732= Single submitter ALG9-congenital disorder of glycosylation
p.Leu744= Single submitter ALG9-congenital disorder of glycosylation
p.Leu759= Single submitter ALG9-congenital disorder of glycosylation
p.Leu79= Single submitter ALG9-congenital disorder of glycosylation
p.Leu790= Single submitter ALG9-congenital disorder of glycosylation
p.Leu796= Single submitter ALG9-congenital disorder of glycosylation
p.Leu91= Single submitter ALG9-congenital disorder of glycosylation
p.Lys103= Single submitter ALG9-congenital disorder of glycosylation
p.Lys113= Single submitter ALG9-congenital disorder of glycosylation
p.Lys304= Single submitter ALG9-congenital disorder of glycosylation
p.Phe415= Single submitter ALG9-congenital disorder of glycosylation
p.Phe479= Single submitter ALG9-congenital disorder of glycosylation
p.Pro153= Single submitter ALG9-congenital disorder of glycosylation
p.Pro366= Single submitter ALG9-congenital disorder of glycosylation
p.Pro367= Single submitter ALG9-congenital disorder of glycosylation
p.Pro589= Single submitter ALG9-congenital disorder of glycosylation
p.Pro621= Single submitter ALG9-congenital disorder of glycosylation
p.Pro78= Single submitter ALG9-congenital disorder of glycosylation
p.Ser27= Single submitter ALG9-congenital disorder of glycosylation
p.Ser294= Single submitter ALG9-congenital disorder of glycosylation
p.Ser355= Single submitter ALG9-congenital disorder of glycosylation
p.Ser491= Single submitter ALG9-congenital disorder of glycosylation
p.Ser492= Single submitter ALG9-congenital disorder of glycosylation
p.Ser555= Single submitter ALG9-congenital disorder of glycosylation
p.Ser752= Single submitter ALG9-congenital disorder of glycosylation
p.Ser846= Single submitter ALG9-congenital disorder of glycosylation
p.Ser847= Single submitter ALG9-congenital disorder of glycosylation
p.Thr112= Single submitter ALG9-congenital disorder of glycosylation
p.Thr280= Single submitter
p.Thr376= Single submitter ALG9-congenital disorder of glycosylation
p.Thr464Ser Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Thr564= Single submitter ALG9-congenital disorder of glycosylation
p.Thr689= Single submitter ALG9-congenital disorder of glycosylation
p.Thr750= Single submitter ALG9-congenital disorder of glycosylation
p.Tyr283= Single submitter ALG9-congenital disorder of glycosylation
p.Tyr386= Single submitter ALG9-congenital disorder of glycosylation
p.Tyr647= Single submitter ALG9-congenital disorder of glycosylation
p.Val111= Single submitter ALG9-congenital disorder of glycosylation
p.Val176= Single submitter ALG9-congenital disorder of glycosylation
p.Val202= Single submitter ALG9-congenital disorder of glycosylation
p.Val238= Single submitter ALG9-congenital disorder of glycosylation
p.Val388= Single submitter ALG9-congenital disorder of glycosylation
p.Val420= Single submitter ALG9-congenital disorder of glycosylation
p.Val462= Single submitter ALG9-congenital disorder of glycosylation
p.Val485= Single submitter ALG9-congenital disorder of glycosylation
p.Val55= Single submitter ALG9-congenital disorder of glycosylation
p.Val651= Single submitter ALG9-congenital disorder of glycosylation
p.Val699= Single submitter ALG9-congenital disorder of glycosylation
c.2466-4_2466-3dup No assertion criteria ATP6V0A2-related disorder
p.Glu59= No assertion criteria ATP6V0A2-related disorder
p.Ile588= No assertion criteria ATP6V0A2-related disorder
p.Leu427= No assertion criteria ATP6V0A2-related disorder
p.Val662= No assertion criteria ATP6V0A2-related disorder

Uncertain significance 314

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

p.Ala28Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala307Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala657Val Multiple submitters Inborn genetic diseases ⚠
p.Ala722Val Multiple submitters Inborn genetic diseases ⚠
p.Ala758Val Multiple submitters autosomal recessive cutis laxa type 2A ⚠
p.Ala817Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg141His Multiple submitters Inborn genetic diseases ⚠
p.Arg259Gln Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Arg269Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg269His Multiple submitters ⚠
p.Arg339Cys Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Arg340Gln Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Arg340Trp Multiple submitters wrinkly skin syndrome ⚠
p.Arg369Gln Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Arg371Cys Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Arg371His Multiple submitters autosomal recessive cutis laxa type 2A ⚠
p.Arg451Trp Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Arg543Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg63Gln Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Arg650Gly Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Arg678His Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Arg776His Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Arg780Cys Multiple submitters autosomal recessive cutis laxa type 2A ⚠
p.Arg780His Multiple submitters autosomal recessive cutis laxa type 2A ⚠
p.Asn477Ile Multiple submitters Inborn genetic diseases ⚠
p.Asn477Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn629Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn749Ser Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Asp158Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp243Gly Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Asp706Asn Multiple submitters autosomal recessive cutis laxa type 2A ⚠
p.Asp852Asn Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Gln765Arg Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Glu105Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu186Gly Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Glu218Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu257Lys Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Glu264Gly Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Glu293Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu332Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu377Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly265Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly265Glu Multiple submitters autosomal recessive cutis laxa type 2A ⚠
p.Gly350Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly389Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly416Arg Multiple submitters ⚠
p.Gly729Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly778Val Multiple submitters wrinkly skin syndrome ⚠
p.Ile180Thr Multiple submitters autosomal recessive cutis laxa type 2A ⚠
p.Ile220Val Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Ile353Val Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Ile453Val Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Ile597Val Multiple submitters Inborn genetic diseases ⚠
p.Ile691Thr Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Leu192Phe Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Leu273Arg Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Leu663His Multiple submitters Inborn genetic diseases ⚠
p.Leu669Val Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Lys103Asn Multiple submitters ATP6VOA2-related disorder ⚠
p.Lys172Arg Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Lys290Glu Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Lys374Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys848Glu Multiple submitters Inborn genetic diseases ⚠
p.Met10Val Multiple submitters Inborn genetic diseases ⚠
p.Met357Thr Multiple submitters Inborn genetic diseases ⚠
p.Met97Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe145Leu Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Phe408Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe550Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe849Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro147Leu Multiple submitters autosomal recessive cutis laxa type 2A ⚠
p.Pro366Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro367Arg Multiple submitters autosomal recessive cutis laxa type 2A ⚠
p.Pro522Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro661Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser346= Multiple submitters ALG9-congenital disorder of glycosylation
p.Ser486Leu Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Ser520Cys Multiple submitters Inborn genetic diseases ⚠
p.Thr137Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr200Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr255Ile Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Thr376Ala Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Thr9Ile Multiple submitters wrinkly skin syndrome ⚠
p.Tyr386Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr830= Multiple submitters ALG9-congenital disorder of glycosylation
p.Val202Met Multiple submitters Inborn genetic diseases ⚠
p.Val249Met Multiple submitters Inborn genetic diseases ⚠
p.Val295Ile Multiple submitters wrinkly skin syndrome ⚠
p.Val383Met Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Val485Met Multiple submitters Inborn genetic diseases ⚠
p.Val509Gly Multiple submitters Inborn genetic diseases ⚠
p.Val556Ala Multiple submitters Inborn genetic diseases ⚠
p.Val556Met Multiple submitters wrinkly skin syndrome ⚠
p.Val611Phe Multiple submitters ALG9-congenital disorder of glycosylation ⚠
p.Val831Ile Multiple submitters ALG9-congenital disorder of glycosylation ⚠
c.1515-3_1515-2del Single submitter
c.1724+5G>A Single submitter ALG9-congenital disorder of glycosylation
c.196+5G>A Single submitter
c.197-16A>G Single submitter ALG9-congenital disorder of glycosylation
c.2056-2dup Single submitter
c.2176-10TC[2] Single submitter autosomal recessive cutis laxa type 2A
c.2176-5C>G Single submitter autosomal recessive cutis laxa type 2A
c.731+6A>G Single submitter ALG9-congenital disorder of glycosylation
c.826-5C>T Single submitter autosomal recessive cutis laxa type 2A
c.-148C>T Single submitter autosomal recessive cutis laxa type 2A
c.(?_-214 Single submitter
c.*1252A>G Single submitter autosomal recessive cutis laxa type 2A
c.*1454A>G Single submitter autosomal recessive cutis laxa type 2A
c.*1599C>T Single submitter autosomal recessive cutis laxa type 2A
c.*1620T>A Single submitter autosomal recessive cutis laxa type 2A
c.*1680C>T Single submitter autosomal recessive cutis laxa type 2A
c.*1681G>A Single submitter autosomal recessive cutis laxa type 2A
c.*1799A>C Single submitter autosomal recessive cutis laxa type 2A
c.*1803C>T Single submitter autosomal recessive cutis laxa type 2A
c.*1828C>G Single submitter autosomal recessive cutis laxa type 2A
c.*1950G>A Single submitter autosomal recessive cutis laxa type 2A
c.*2039C>G Single submitter autosomal recessive cutis laxa type 2A
c.*2090C>T Single submitter autosomal recessive cutis laxa type 2A
c.*2161C>G Single submitter autosomal recessive cutis laxa type 2A
c.*2198C>T Single submitter autosomal recessive cutis laxa type 2A
c.*2454T>C Single submitter autosomal recessive cutis laxa type 2A
c.*2618A>G Single submitter autosomal recessive cutis laxa type 2A
c.*271A>G Single submitter autosomal recessive cutis laxa type 2A
c.*2759T>C Single submitter autosomal recessive cutis laxa type 2A
c.*2771A>G Single submitter autosomal recessive cutis laxa type 2A
c.*2782C>A Single submitter autosomal recessive cutis laxa type 2A
c.*2833A>T Single submitter autosomal recessive cutis laxa type 2A
c.*2876A>T Single submitter autosomal recessive cutis laxa type 2A
c.*2929C>G Single submitter autosomal recessive cutis laxa type 2A
c.*3042T>G Single submitter autosomal recessive cutis laxa type 2A
c.*3159G>A Single submitter autosomal recessive cutis laxa type 2A
c.*3166C>T Single submitter autosomal recessive cutis laxa type 2A
c.*3262G>A Single submitter autosomal recessive cutis laxa type 2A
c.*3269A>G Single submitter autosomal recessive cutis laxa type 2A
c.*3368T>G Single submitter autosomal recessive cutis laxa type 2A
c.*3505A>G Single submitter autosomal recessive cutis laxa type 2A
c.*3665T>G Single submitter autosomal recessive cutis laxa type 2A
c.*3684C>T Single submitter autosomal recessive cutis laxa type 2A
c.*3707A>G Single submitter autosomal recessive cutis laxa type 2A
c.*434T>A Single submitter autosomal recessive cutis laxa type 2A
c.*564T>C Single submitter autosomal recessive cutis laxa type 2A
c.*575G>A Single submitter autosomal recessive cutis laxa type 2A
c.*577C>T Single submitter autosomal recessive cutis laxa type 2A
c.*63C>T Single submitter autosomal recessive cutis laxa type 2A
c.*643C>T Single submitter autosomal recessive cutis laxa type 2A
c.*706T>G Single submitter autosomal recessive cutis laxa type 2A
c.*709C>T Single submitter autosomal recessive cutis laxa type 2A
c.*742G>A Single submitter autosomal recessive cutis laxa type 2A
p.Ala22Val Single submitter ⚠
p.Ala292Thr Single submitter Inborn genetic diseases ⚠
p.Ala333Pro Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ala333Val Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ala341Glu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ala620Asp Single submitter Inborn genetic diseases ⚠
p.Ala772Pro Single submitter ⚠
p.Ala795Thr Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ala88Val Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Arg260Lys Single submitter ⚠
p.Arg298Cys Single submitter ⚠
p.Arg298His Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Arg339Pro Single submitter ⚠
p.Arg510Ile Single submitter ⚠
p.Arg526Gln Single submitter ⚠
p.Arg543His Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Arg57Ser Single submitter Inborn genetic diseases ⚠
p.Arg57Thr Single submitter Inborn genetic diseases ⚠
p.Arg678Cys Single submitter autosomal recessive cutis laxa type 2A ⚠
p.Arg6Gln Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Asn142Ser Single submitter Inborn genetic diseases ⚠
p.Asn321Ser Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Asn431Asp Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Asn43Ser Single submitter ⚠
p.Asn538Thr Single submitter Inborn genetic diseases ⚠
p.Asn676Lys Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Asn827Asp Single submitter Inborn genetic diseases ⚠
p.Asp334Tyr Single submitter Inborn genetic diseases ⚠
p.Asp384Glu Single submitter Inborn genetic diseases ⚠
p.Asp506Asn Single submitter ALG9-congenital disorder of glycosylation
p.Asp853Gly Single submitter ⚠
p.Cys196Trp Single submitter ⚠
p.Cys242Gly Single submitter ⚠
p.Cys323Tyr Single submitter ⚠
p.Cys746Gly Single submitter Inborn genetic diseases ⚠
p.Gln100Glu Single submitter ⚠
p.Gln167Arg Single submitter Inborn genetic diseases ⚠
p.Gln286Glu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Gln336Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Gln645Arg Single submitter Inborn genetic diseases ⚠
p.Glu124Lys Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Glu156Gln Single submitter ⚠
p.Glu218Asp Single submitter Inborn genetic diseases ⚠
p.Glu218Gln Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Glu281Lys Single submitter ⚠
p.Glu327Gln Single submitter Inborn genetic diseases ⚠
p.Glu393Asp Single submitter Inborn genetic diseases ⚠
p.Glu432Gly Single submitter Inborn genetic diseases ⚠
p.Glu697Lys Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Glu720Gln Single submitter ⚠
p.Glu724Gly Single submitter Inborn genetic diseases ⚠
p.Glu741Asp Single submitter wrinkly skin syndrome ⚠
p.Gly183Glu Single submitter ⚠
p.Gly198Ala Single submitter Inborn genetic diseases ⚠
p.Gly33Val Single submitter Inborn genetic diseases ⚠
p.Gly416Glu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Gly677Glu Single submitter ⚠
p.Gly682Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Gly703Arg Single submitter Inborn genetic diseases ⚠
p.Gly717Arg Single submitter ⚠
p.Gly834= Single submitter ALG9-congenital disorder of glycosylation
p.Gly834Asp Single submitter Inborn genetic diseases ⚠
p.His130Gln Single submitter Inborn genetic diseases ⚠
p.His248Arg Single submitter ⚠
p.His417Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
p.His434Asn Single submitter Inborn genetic diseases ⚠
p.His498Arg Single submitter ⚠
p.His574Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ile227Met Single submitter Inborn genetic diseases ⚠
p.Ile227Val Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ile241Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ile262Met Single submitter autosomal recessive cutis laxa type 2A ⚠
p.Ile360Thr Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ile467Met Single submitter ⚠
p.Ile467Val Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ile521Thr Single submitter ⚠
p.Ile707Thr Single submitter ⚠
p.Ile731Met Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ile740Met Single submitter Inborn genetic diseases ⚠
p.Ile77Ser Single submitter ⚠
p.Ile804= Single submitter autosomal recessive cutis laxa type 2A
p.Leu125Met Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Leu161Trp Single submitter ⚠
p.Leu398Pro Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Leu437Ile Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Leu478Val Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Leu503Phe Single submitter ATP6VOA2-related disorder ⚠
p.Leu558Val Single submitter Inborn genetic diseases ⚠
p.Leu569Val Single submitter Inborn genetic diseases ⚠
p.Leu575Val Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Leu669Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Leu672Ser Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Leu779Val Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Leu844Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Leu844Val Single submitter Inborn genetic diseases ⚠
p.Leu845Phe Single submitter Inborn genetic diseases ⚠
p.Lys136Gln Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Lys136Glu Single submitter Inborn genetic diseases ⚠
p.Lys240Arg Single submitter Inborn genetic diseases ⚠
p.Lys474Glu Single submitter ⚠
p.Lys499Glu Single submitter ⚠
p.Lys500del Single submitter ALG9-congenital disorder of glycosylation
p.Lys667Glu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Met10Leu Single submitter Inborn genetic diseases ⚠
p.Met131Val Single submitter ⚠
p.Met305Val Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Met314Thr Single submitter Inborn genetic diseases ⚠
p.Met411Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Met457Thr Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Met501Ile Single submitter Inborn genetic diseases ⚠
p.Met554Thr Single submitter Inborn genetic diseases ⚠
p.Met594Val Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Phe138Ser Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Phe188Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Phe399Ser Single submitter Inborn genetic diseases ⚠
p.Phe51Cys Single submitter Inborn genetic diseases ⚠
p.Phe633Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Phe664Leu Single submitter Inborn genetic diseases ⚠
p.Phe814Tyr Single submitter autosomal recessive cutis laxa type 2A ⚠
p.Phe837Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Pro361Thr Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Pro367Ala Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Pro367Leu Single submitter ⚠
p.Pro494Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Pro495Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Pro522His Single submitter Inborn genetic diseases ⚠
p.Pro589Ser Single submitter Inborn genetic diseases ⚠
p.Pro792Ser Single submitter ⚠
p.Pro90Thr Single submitter Inborn genetic diseases ⚠
p.Ser316Gly Single submitter Inborn genetic diseases ⚠
p.Ser346Leu Single submitter Inborn genetic diseases ⚠
p.Ser490Gly Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ser492Ile Single submitter Inborn genetic diseases ⚠
p.Ser520Gly Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ser686Asn Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ser752Phe Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Ser846Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Thr137Ala Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Thr268Ser Single submitter Inborn genetic diseases ⚠
p.Thr362Ala Single submitter ⚠
p.Thr365Ile Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Thr372= Single submitter
p.Thr643Ala Single submitter Inborn genetic diseases ⚠
p.Thr734Asn Single submitter Inborn genetic diseases ⚠
p.Thr835= Single submitter
p.Tyr128His Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Tyr223Cys Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Tyr296Cys Single submitter ALG9-congenital disorder of glycosylation ⚠
p.Tyr452Ser Single submitter ⚠
p.Tyr468Cys Single submitter Inborn genetic diseases ⚠
p.Tyr607Cys Single submitter autosomal recessive cutis laxa type 2A ⚠
p.Tyr688His Single submitter Inborn genetic diseases ⚠