ATP2A2 — 359 ClinVar variants
All ClinVar germline ATP2A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →
41 Pathogenic · 1 Pathogenic/Likely pathogenic · 45 Likely pathogenic · 8 Conflicting · 40 Benign · 7 Benign/Likely benign · 60 Likely benign · 157 Uncertain significance
Full ATP2A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 125
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ATP2A2 p.Leu32Phe
Conflicting
Single submitter
Darier disease
-
ATP2A2 p.Thr982Met
Conflicting
Single submitter
Darier disease
Predictors lean, ClinVar uncertain 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP2A2 p.Gln108Pro Uncertain significance Multiple submitters
-
ATP2A2 p.Leu942Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP2A2 p.Val933Met
Uncertain significance
Multiple submitters
Darier disease
- ATP2A2 p.Ala303Val Uncertain significance Single submitter
- ATP2A2 p.Ala616Val Uncertain significance Single submitter
-
ATP2A2 p.Ala729Thr
Uncertain significance
Single submitter
Darier disease
- ATP2A2 p.Arg131Leu Uncertain significance Single submitter
-
ATP2A2 p.Arg139Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Arg489His Uncertain significance Single submitter
-
ATP2A2 p.Arg528Gln
Uncertain significance
Single submitter
rhabdomyolysis, susceptibility to, 2
- ATP2A2 p.Arg559Gln Uncertain significance Single submitter
- ATP2A2 p.Arg614Gln Uncertain significance Single submitter
-
ATP2A2 p.Arg637Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Arg655Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Arg677Pro
Uncertain significance
Single submitter
Darier disease
- ATP2A2 p.Arg761Cys Uncertain significance Single submitter
- ATP2A2 p.Arg761Leu Uncertain significance Single submitter
-
ATP2A2 p.Asn39Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Asn568Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Asn627Lys Uncertain significance Single submitter
- ATP2A2 p.Asn795Ser Uncertain significance Single submitter
- ATP2A2 p.Asp162Asn Uncertain significance Single submitter
-
ATP2A2 p.Asp706Ala
Uncertain significance
Single submitter
Darier disease
- ATP2A2 p.Cys595Arg Uncertain significance Single submitter
-
ATP2A2 p.Gln56Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Glu183Lys Uncertain significance Single submitter
-
ATP2A2 p.Glu877Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Gly354Asp Uncertain significance Single submitter
- ATP2A2 p.Gly438Arg Uncertain significance Single submitter
-
ATP2A2 p.Gly597Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Gly844Ser Uncertain significance Single submitter
-
ATP2A2 p.His943Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Ile1022Val Uncertain significance Single submitter
-
ATP2A2 p.Ile179Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Ile235Asn Uncertain significance Single submitter
-
ATP2A2 p.Ile384Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Ile54Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Ile774Asn Uncertain significance Single submitter
- ATP2A2 p.Ile930Val Uncertain significance Single submitter
- ATP2A2 p.Leu32Pro Uncertain significance Single submitter
-
ATP2A2 p.Leu379Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Leu41Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Leu690Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Leu796Pro Uncertain significance Single submitter
- ATP2A2 p.Leu900Phe Uncertain significance Single submitter
- ATP2A2 p.Leu900Pro Uncertain significance Single submitter
-
ATP2A2 p.Leu978Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Lys451Met Uncertain significance Single submitter
- ATP2A2 p.Met508Val Uncertain significance Single submitter
- ATP2A2 p.Met598Arg Uncertain significance Single submitter
-
ATP2A2 p.Met719Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Phe367Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Phe652Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Phe657Ser Uncertain significance Single submitter
- ATP2A2 p.Phe675Ser Uncertain significance Single submitter
- ATP2A2 p.Phe739Tyr Uncertain significance Single submitter
-
ATP2A2 p.Phe985Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Pro124Leu Uncertain significance Single submitter
- ATP2A2 p.Pro926Arg Uncertain significance Single submitter
-
ATP2A2 p.Pro993Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Ser21Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Ser346Phe Uncertain significance Single submitter
-
ATP2A2 p.Ser38Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Thr212Arg Uncertain significance Single submitter
-
ATP2A2 p.Thr230Ala
Uncertain significance
Single submitter
acrokeratosis verruciformis
- ATP2A2 p.Thr353Ser Uncertain significance Single submitter
-
ATP2A2 p.Thr358Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Thr557Lys Uncertain significance Single submitter
-
ATP2A2 p.Thr723Ile
Uncertain significance
Single submitter
acrokeratosis verruciformis
-
ATP2A2 p.Thr847Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Val395Gly Uncertain significance Single submitter
- ATP2A2 p.Val74Leu Uncertain significance Single submitter
- ATP2A2 p.Val794Phe Uncertain significance Single submitter
-
ATP2A2 p.Val963Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Val976Met Uncertain significance Single submitter
-
ATP2A2 p.Ala726Val
Uncertain significance
No assertion criteria
ATP2A2-related disorder
- ATP2A2 p.Ala785Ser Uncertain significance No assertion criteria
Predictors split 46
The independent predictors disagree with each other — read with care.
-
ATP2A2 p.Lys169Arg
Uncertain significance
Multiple submitters
Darier disease
-
ATP2A2 p.Ala216Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Arg35Ser Uncertain significance Single submitter
- ATP2A2 p.Arg467Cys Uncertain significance Single submitter
- ATP2A2 p.Arg467His Uncertain significance Single submitter
-
ATP2A2 p.Arg619Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Arg636His
Likely benign
Single submitter
Inborn genetic diseases
- ATP2A2 p.Arg637His Likely benign Single submitter
-
ATP2A2 p.Arg666Gln
Benign
Single submitter
acrokeratosis verruciformis
-
ATP2A2 p.Arg673Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Arg673His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Asn280Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Asn428His Uncertain significance Single submitter
-
ATP2A2 p.Asn589Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Asn822Tyr Uncertain significance Single submitter
-
ATP2A2 p.Asn989Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Asp237Gly Uncertain significance Single submitter
-
ATP2A2 p.Asp556Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Gln691Lys Uncertain significance Single submitter
- ATP2A2 p.Glu688Gly Uncertain significance Single submitter
-
ATP2A2 p.Glu83Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Gly374Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Gly639Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Gly830Arg Uncertain significance Single submitter
-
ATP2A2 p.His576Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Ile638Val
Benign
Single submitter
Darier disease
- ATP2A2 p.Leu462Phe Uncertain significance Single submitter
-
ATP2A2 p.Leu660Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Leu912Phe Uncertain significance Single submitter
-
ATP2A2 p.Lys234Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Lys400Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Lys543Glu
Conflicting
Single submitter
Inborn genetic diseases
- ATP2A2 p.Lys7Thr Uncertain significance Single submitter
-
ATP2A2 p.Met126Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Met366Val
Conflicting
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Met622Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Pro195Ala
Uncertain significance
Single submitter
Darier disease
-
ATP2A2 p.Pro535Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP2A2 p.Ser1004Tyr Likely benign Single submitter
-
ATP2A2 p.Thr172Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Thr376Ile
Uncertain significance
Single submitter
Darier disease
-
ATP2A2 p.Thr446Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Val194Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP2A2 p.Val687Ile
Conflicting
Single submitter
Inborn genetic diseases
- ATP2A2 p.Glu44Gly Uncertain significance No assertion criteria
-
ATP2A2 p.Trp36Gly
Uncertain significance
No assertion criteria
Darier disease
All ATP2A2 variants
Pathogenic 41
- p.Asp702Asn Multiple submitters Darier disease
- p.Gly211Asp Multiple submitters
- p.Met1Val Multiple submitters
- p.Pro602Leu Multiple submitters acrokeratosis verruciformis
- c.1185-1G>A Single submitter
- c.119-2A>G Single submitter
- p.Ala803Thr Single submitter
- p.Arg131Gln Single submitter Darier disease
- p.Arg549Ter Single submitter
- p.Arg666Ter Single submitter
- p.Arg821fs Single submitter
- p.Asp422fs Single submitter
- p.Asp980Val Single submitter
- p.Gln477Ter Single submitter
- p.Glu450fs Single submitter
- p.Glu458Ter Single submitter
- p.Gly23Glu Single submitter Darier disease
- p.Gly769Arg Single submitter
- p.Ile116fs Single submitter
- p.Ile686fs Single submitter
- p.Leu336_Pro337delinsPheGlnGly Single submitter Darier disease
- p.Leu947fs Single submitter
- p.Leu98fs Single submitter
- p.Lys143fs Single submitter
- p.Lys543fs Single submitter
- p.Met1Leu Single submitter
- p.Pro160Leu Single submitter
- p.Ser338Phe Single submitter Darier disease
- p.Ser463_Lys464insPhePhePhePhePhePheXaaXaaXaaXaaProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaGlyAlaThrAlaProGlyLeuLysGlyLeuSer Single submitter
- p.Ser580fs Single submitter
- p.Thr723fs Single submitter
- p.Trp551Ter Single submitter
- p.Trp854fs Single submitter
- p.Tyr389Ter Single submitter
- c.137-13_137-12insNNNNNNNNNNNNNNNNNN No assertion criteria Darier disease
- p.Ala698Val No assertion criteria acrokeratosis verruciformis
- p.Asn755del No assertion criteria Darier disease
- p.Cys268Phe No assertion criteria Darier disease, acral hemorrhagic type
- p.Cys560Arg No assertion criteria Darier disease
- p.Gln108Ter No assertion criteria Darier disease
- p.Tyr894Ter No assertion criteria Darier disease, segmental
Pathogenic/Likely pathogenic 1
- p.Asn767Ser Multiple submitters Darier disease
Likely pathogenic 45
- c.118+2T>C Single submitter ATP2A2-related disorder
- c.119-8_119-2del Single submitter
- c.1543-2A>C Single submitter
- c.220-1G>A Single submitter Darier disease
- c.2522-1G>C Single submitter
- c.2741_2741+1delinsAA Single submitter Darier disease
- c.544+1G>A Single submitter Darier disease
- p.Arg750Gln Single submitter
- p.Asn39Lys Single submitter
- p.Asn767Asp Single submitter
- p.Asn809Ile Single submitter
- p.Asp149Asn Single submitter
- p.Asp706Asn Single submitter
- p.Cys997fs Single submitter
- p.Gln177Arg Single submitter
- p.Glu121Asp Single submitter
- p.Gly156Val Single submitter
- p.Gly182delinsGluProAlaTer Single submitter
- p.Gly749Arg Single submitter
- p.Ile145fs Single submitter
- p.Ile348Thr Single submitter
- p.Ile930_Trp931insIle Single submitter Darier disease
- p.Leu912Pro Single submitter
- p.Phe73Ser Single submitter
- p.Pro337fs Single submitter Darier disease
- p.Ser178Leu Single submitter
- p.Ser495Leu Single submitter ATP2A2-related disorder
- p.Trp927fs Single submitter
- p.Val223Leu Single submitter
- p.Val223Met Single submitter
- p.Val794Asp Single submitter Darier disease
- c.2318+2T>C No assertion criteria Darier disease
- p.Ala305fs No assertion criteria Darier disease
- p.Ala707Pro No assertion criteria ATP2A2-related disorder
- p.Arg491fs No assertion criteria Darier disease
- p.Cys773fs No assertion criteria Darier disease
- p.Glu238Ter No assertion criteria Darier disease
- p.Glu486Ter No assertion criteria Darier disease
- p.Glu58fs No assertion criteria Darier disease
- p.Glu90Val No assertion criteria Darier disease
- p.Gly354Arg No assertion criteria Darier disease
- p.Gly552_Ser553insTer No assertion criteria Darier disease
- p.Ile315Phe No assertion criteria Darier disease
- p.Ser721Pro No assertion criteria Darier disease
- p.Thr230fs No assertion criteria Darier disease
Conflicting classifications of pathogenicity 8
- c.136+21_136+22del Single submitter acrokeratosis verruciformis
- c.*3823A>C Single submitter Darier disease
- p.Leu32Phe Single submitter Darier disease ⚠
- p.Lys543Glu Single submitter Inborn genetic diseases ⚠
- p.Met366Val Single submitter Inborn genetic diseases ⚠
- p.Ser261= Single submitter
- p.Thr982Met Single submitter Darier disease ⚠
- p.Val687Ile Single submitter Inborn genetic diseases ⚠
Benign 40
- c.1287+3A>G Multiple submitters Darier disease
- c.137-12T>C Multiple submitters Darier disease
- c.1420-8C>G Multiple submitters Darier disease
- c.220-18G>A Multiple submitters Darier disease
- c.2319-12G>A Multiple submitters acrokeratosis verruciformis
- c.2742-6C>T Multiple submitters acrokeratosis verruciformis
- c.2860-10TG[2] Multiple submitters acrokeratosis verruciformis
- c.464-12T>C Multiple submitters
- c.464-70C>A Multiple submitters Darier disease
- c.545-7C>T Multiple submitters acrokeratosis verruciformis
- c.-240G>A Multiple submitters Darier disease
- c.*4047A>G Multiple submitters Darier disease
- c.*4580C>T Multiple submitters Darier disease
- p.Ala43= Multiple submitters
- p.Ala724= Multiple submitters acrokeratosis verruciformis
- p.Glu27= Multiple submitters Darier disease
- p.Ile686= Multiple submitters acrokeratosis verruciformis
- p.Leu485= Multiple submitters
- p.Leu734= Multiple submitters acrokeratosis verruciformis
- p.Pro975= Multiple submitters Darier disease
- p.Ser916= Multiple submitters
- p.Thr441= Multiple submitters acrokeratosis verruciformis
- p.Tyr389= Multiple submitters acrokeratosis verruciformis
- c.1096-12C>G Single submitter Darier disease
- c.1096-43T>A Single submitter
- c.219+15del Single submitter
- c.2741+17G>A Single submitter
- c.2860-18G>A Single submitter
- c.-15C>T Single submitter Darier disease
- c.-274G>C Single submitter Darier disease
- c.*3875G>A Single submitter Darier disease
- c.*4203A>G Single submitter Darier disease
- c.*4428C>T Single submitter Darier disease
- c.*4578G>A Single submitter Darier disease
- p.Ala4= Single submitter
- p.Ala713= Single submitter
- p.Arg666Gln Single submitter acrokeratosis verruciformis ⚠
- p.Asn929= Single submitter
- p.Asp702= Single submitter
- p.Ile638Val Single submitter Darier disease ⚠
Benign/Likely benign 7
- c.1096-16C>T Multiple submitters acrokeratosis verruciformis
- c.-10C>G Multiple submitters acrokeratosis verruciformis
- p.Glu109= Multiple submitters acrokeratosis verruciformis
- p.Glu770= Multiple submitters
- p.Ser765= Multiple submitters Darier disease
- p.Tyr586= Multiple submitters Darier disease
- p.Val998Leu Multiple submitters
Likely benign 60
- c.137-6T>C Multiple submitters
- c.2318+3A>G Multiple submitters Inborn genetic diseases
- p.Ala852= Multiple submitters Darier disease
- p.Ile103Val Multiple submitters Inborn genetic diseases
- c.1096-10C>T Single submitter
- c.1096-15G>A Single submitter
- c.1184+11del Single submitter
- c.1288-9C>T Single submitter
- c.136+11C>T Single submitter Darier disease
- c.1419+32C>G Single submitter
- c.1543-17A>G Single submitter
- c.1761+13A>C Single submitter
- c.1762-15A>T Single submitter
- c.2097+17A>G Single submitter
- c.2098-20A>G Single submitter
- c.219+16T>C Single submitter
- c.2741+10C>T Single submitter
- c.2741+16C>T Single submitter
- c.2860-19C>T Single submitter
- c.2860-9G>A Single submitter
- c.325-8T>C Single submitter
- c.463+9_463+10del Single submitter
- c.544+13T>C Single submitter
- c.630+10T>G Single submitter
- c.*3832G>A Single submitter
- c.*3837C>T Single submitter Darier disease
- p.Ala581= Single submitter
- p.Ala651= Single submitter
- p.Ala87= Single submitter
- p.Arg523= Single submitter Darier disease
- p.Arg636His Single submitter Inborn genetic diseases ⚠
- p.Arg637His Single submitter ⚠
- p.Arg750= Single submitter
- p.Arg923= Single submitter
- p.Asn705= Single submitter
- p.Asn767= Single submitter
- p.Asp646= Single submitter
- p.Asp859= Single submitter
- p.Gln177= Single submitter
- p.Gly374= Single submitter Darier disease
- p.Gly701= Single submitter
- p.Leu311= Single submitter
- p.Leu336= Single submitter
- p.Leu806= Single submitter
- p.Leu991= Single submitter
- p.Lys352= Single submitter
- p.Lys502= Single submitter
- p.Pro193= Single submitter
- p.Pro880= Single submitter
- p.Ser1004Tyr Single submitter ⚠
- p.Ser555= Single submitter
- p.Ser608Ala Single submitter
- p.Ser609= Single submitter
- p.Ser941= Single submitter
- p.Thr383= Single submitter
- p.Thr728= Single submitter
- p.Val949= Single submitter
- c.2521+10A>G No assertion criteria ATP2A2-related disorder
- p.Cys498= No assertion criteria ATP2A2-related disorder
- p.Ile289= No assertion criteria ATP2A2-related disorder
Uncertain significance 157
- c.1543-3C>T Multiple submitters
- p.Gln108Pro Multiple submitters ⚠
- p.Leu942Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys169Arg Multiple submitters Darier disease ⚠
- p.Val933Met Multiple submitters Darier disease ⚠
- c.1185-9T>C Single submitter Darier disease
- c.1761+6C>T Single submitter Inborn genetic diseases
- c.2521+4A>C Single submitter Darier disease
- c.2859+11G>A Single submitter Darier disease
- c.2860-3C>G Single submitter
- c.544+10A>G Single submitter Darier disease
- c.545-12C>G Single submitter
- c.545-14C>T Single submitter Darier disease
- c.545-7C>A Single submitter
- c.-165C>G Single submitter Darier disease
- c.-167C>T Single submitter Darier disease
- c.-206C>T Single submitter Darier disease
- c.-324G>A Single submitter Darier disease
- c.-34G>A Single submitter Darier disease
- c.-37G>C Single submitter Darier disease
- c.-458G>A Single submitter Darier disease
- c.-482C>T Single submitter Darier disease
- c.-512C>G Single submitter Darier disease
- c.-75C>T Single submitter Darier disease
- c.*3880C>T Single submitter Darier disease
- c.*3881G>A Single submitter Darier disease
- c.*3891G>A Single submitter Darier disease
- c.*3918G>T Single submitter Darier disease
- c.*3983A>C Single submitter Darier disease
- c.*4140C>T Single submitter Darier disease
- c.*4256G>A Single submitter Darier disease
- c.*4283G>A Single submitter Darier disease
- c.*4463A>G Single submitter Darier disease
- c.*4572A>G Single submitter Darier disease
- c.*4599G>A Single submitter Darier disease
- p.Ala216Ser Single submitter Inborn genetic diseases ⚠
- p.Ala303Val Single submitter ⚠
- p.Ala616Val Single submitter ⚠
- p.Ala729Thr Single submitter Darier disease ⚠
- p.Arg131Leu Single submitter ⚠
- p.Arg139Gln Single submitter Inborn genetic diseases ⚠
- p.Arg35Ser Single submitter ⚠
- p.Arg467Cys Single submitter ⚠
- p.Arg467His Single submitter ⚠
- p.Arg489His Single submitter ⚠
- p.Arg491= Single submitter Darier disease
- p.Arg528Gln Single submitter rhabdomyolysis, susceptibility to, 2 ⚠
- p.Arg559Gln Single submitter ⚠
- p.Arg614Gln Single submitter ⚠
- p.Arg619Gln Single submitter Inborn genetic diseases ⚠
- p.Arg637Cys Single submitter Inborn genetic diseases ⚠
- p.Arg655Gln Single submitter Inborn genetic diseases ⚠
- p.Arg673Cys Single submitter Inborn genetic diseases ⚠
- p.Arg673His Single submitter Inborn genetic diseases ⚠
- p.Arg677Pro Single submitter Darier disease ⚠
- p.Arg761Cys Single submitter ⚠
- p.Arg761Leu Single submitter ⚠
- p.Asn101= Single submitter Darier disease
- p.Asn280Ser Single submitter Inborn genetic diseases ⚠
- p.Asn39= Single submitter
- p.Asn39Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn428His Single submitter ⚠
- p.Asn568Ser Single submitter Inborn genetic diseases ⚠
- p.Asn589Ser Single submitter Inborn genetic diseases ⚠
- p.Asn627Lys Single submitter ⚠
- p.Asn738del Single submitter
- p.Asn795Ser Single submitter ⚠
- p.Asn822Tyr Single submitter ⚠
- p.Asn989Ser Single submitter Inborn genetic diseases ⚠
- p.Asp162Asn Single submitter ⚠
- p.Asp237Gly Single submitter ⚠
- p.Asp556Asn Single submitter Inborn genetic diseases ⚠
- p.Asp706Ala Single submitter Darier disease ⚠
- p.Cys595Arg Single submitter ⚠
- p.Gln56Pro Single submitter Inborn genetic diseases ⚠
- p.Gln691Lys Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu587= Single submitter
- p.Glu688Gly Single submitter ⚠
- p.Glu83Gly Single submitter Inborn genetic diseases ⚠
- p.Glu877Asp Single submitter Inborn genetic diseases ⚠
- p.Gly354Asp Single submitter ⚠
- p.Gly374Arg Single submitter Inborn genetic diseases ⚠
- p.Gly438Arg Single submitter ⚠
- p.Gly597Asp Single submitter Inborn genetic diseases ⚠
- p.Gly639Ser Single submitter Inborn genetic diseases ⚠
- p.Gly830Arg Single submitter ⚠
- p.Gly844Ser Single submitter ⚠
- p.His576Tyr Single submitter Inborn genetic diseases ⚠
- p.His943Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile1022Val Single submitter ⚠
- p.Ile179Val Single submitter Inborn genetic diseases ⚠
- p.Ile235Asn Single submitter ⚠
- p.Ile384Val Single submitter Inborn genetic diseases ⚠
- p.Ile54Leu Single submitter Inborn genetic diseases ⚠
- p.Ile774Asn Single submitter ⚠
- p.Ile930Val Single submitter ⚠
- p.Leu32Pro Single submitter ⚠
- p.Leu379Val Single submitter Inborn genetic diseases ⚠
- p.Leu41Phe Single submitter Inborn genetic diseases ⚠
- p.Leu462Phe Single submitter ⚠
- p.Leu660Phe Single submitter Inborn genetic diseases ⚠
- p.Leu690Pro Single submitter Inborn genetic diseases ⚠
- p.Leu796Pro Single submitter ⚠
- p.Leu900Phe Single submitter ⚠
- p.Leu900Pro Single submitter ⚠
- p.Leu912Phe Single submitter ⚠
- p.Leu978Val Single submitter Inborn genetic diseases ⚠
- p.Lys234Arg Single submitter Inborn genetic diseases ⚠
- p.Lys400Thr Single submitter Inborn genetic diseases ⚠
- p.Lys451Met Single submitter ⚠
- p.Lys541_Ile544del Single submitter
- p.Lys7Thr Single submitter ⚠
- p.Met126Ile Single submitter Inborn genetic diseases ⚠
- p.Met508Val Single submitter ⚠
- p.Met598Arg Single submitter ⚠
- p.Met622Val Single submitter Inborn genetic diseases ⚠
- p.Met719Val Single submitter Inborn genetic diseases ⚠
- p.Phe367Cys Single submitter Inborn genetic diseases ⚠
- p.Phe652Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe657Ser Single submitter ⚠
- p.Phe675Ser Single submitter ⚠
- p.Phe739Tyr Single submitter ⚠
- p.Phe866del Single submitter
- p.Phe985Ser Single submitter Inborn genetic diseases ⚠
- p.Pro124Leu Single submitter ⚠
- p.Pro195Ala Single submitter Darier disease ⚠
- p.Pro535Ala Single submitter Inborn genetic diseases ⚠
- p.Pro926Arg Single submitter ⚠
- p.Pro993Ser Single submitter Inborn genetic diseases ⚠
- p.Ser21Asn Single submitter Inborn genetic diseases ⚠
- p.Ser346Phe Single submitter ⚠
- p.Ser38Pro Single submitter Inborn genetic diseases ⚠
- p.Ter1043Ser Single submitter
- p.Thr172Ala Single submitter Inborn genetic diseases ⚠
- p.Thr212Arg Single submitter ⚠
- p.Thr230Ala Single submitter acrokeratosis verruciformis ⚠
- p.Thr353Ser Single submitter ⚠
- p.Thr358Ala Single submitter Inborn genetic diseases ⚠
- p.Thr376Ile Single submitter Darier disease ⚠
- p.Thr446Ala Single submitter Inborn genetic diseases ⚠
- p.Thr557Lys Single submitter ⚠
- p.Thr723Ile Single submitter acrokeratosis verruciformis ⚠
- p.Thr847Ala Single submitter Inborn genetic diseases ⚠
- p.Val194Ile Single submitter Inborn genetic diseases ⚠
- p.Val395Gly Single submitter ⚠
- p.Val74Leu Single submitter ⚠
- p.Val794Phe Single submitter ⚠
- p.Val963Met Single submitter Inborn genetic diseases ⚠
- p.Val976Met Single submitter ⚠
- c.1287+4del No assertion criteria Darier disease
- c.545-3T>G No assertion criteria Darier disease
- c.-161G>A No assertion criteria Darier disease
- p.Ala726Val No assertion criteria ATP2A2-related disorder ⚠
- p.Ala785Ser No assertion criteria ⚠
- p.Glu44Gly No assertion criteria ⚠
- p.Trp36Gly No assertion criteria Darier disease ⚠