ATP2C2 — 377 ClinVar variants
All ClinVar germline ATP2C2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 297 flagged for review →
6 Conflicting · 32 Benign · 56 Likely benign · 283 Uncertain significance
Full ATP2C2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 297
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.
Predictors lean, ClinVar uncertain 139
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP2C2 p.Ala140Glu Uncertain significance Single submitter
- ATP2C2 p.Ala32Gly Uncertain significance Single submitter
- ATP2C2 p.Ala331Pro Uncertain significance Single submitter
- ATP2C2 p.Ala402Val Uncertain significance Single submitter
- ATP2C2 p.Ala438Val Uncertain significance Single submitter
- ATP2C2 p.Ala493Val Uncertain significance Single submitter
- ATP2C2 p.Ala51Ser Uncertain significance Single submitter
- ATP2C2 p.Ala51Val Uncertain significance Single submitter
- ATP2C2 p.Ala714Val Uncertain significance Single submitter
- ATP2C2 p.Ala776Val Uncertain significance Single submitter
- ATP2C2 p.Ala813Pro Uncertain significance Single submitter
- ATP2C2 p.Ala833Glu Uncertain significance Single submitter
- ATP2C2 p.Arg358Gln Uncertain significance Single submitter
- ATP2C2 p.Arg479Gly Uncertain significance Single submitter
- ATP2C2 p.Arg546Ser Uncertain significance Single submitter
- ATP2C2 p.Arg553Pro Uncertain significance Single submitter
- ATP2C2 p.Arg565Gln Uncertain significance Single submitter
- ATP2C2 p.Arg797Gln Uncertain significance Single submitter
- ATP2C2 p.Arg858His Uncertain significance Single submitter
- ATP2C2 p.Arg897Gly Uncertain significance Single submitter
- ATP2C2 p.Arg938Ser Uncertain significance Single submitter
- ATP2C2 p.Asn244Ile Uncertain significance Single submitter
- ATP2C2 p.Asn429Ile Uncertain significance Single submitter
- ATP2C2 p.Asn429Ser Uncertain significance Single submitter
- ATP2C2 p.Asn444Asp Uncertain significance Single submitter
- ATP2C2 p.Asn731Lys Uncertain significance Single submitter
- ATP2C2 p.Asn754Asp Uncertain significance Single submitter
- ATP2C2 p.Asn768His Uncertain significance Single submitter
- ATP2C2 p.Asn768Tyr Uncertain significance Single submitter
- ATP2C2 p.Asn903Lys Uncertain significance Single submitter
- ATP2C2 p.Asp190Val Uncertain significance Single submitter
- ATP2C2 p.Asp230Glu Uncertain significance Single submitter
- ATP2C2 p.Asp238Glu Uncertain significance Single submitter
- ATP2C2 p.Asp35Asn Uncertain significance Single submitter
- ATP2C2 p.Asp472Gly Uncertain significance Single submitter
- ATP2C2 p.Asp576Glu Uncertain significance Single submitter
- ATP2C2 p.Asp602Asn Uncertain significance Single submitter
- ATP2C2 p.Asp639Asn Uncertain significance Single submitter
- ATP2C2 p.Cys857Phe Uncertain significance Single submitter
- ATP2C2 p.Gln258Glu Uncertain significance Single submitter
- ATP2C2 p.Gln393Glu Uncertain significance Single submitter
- ATP2C2 p.Gln503Leu Uncertain significance Single submitter
- ATP2C2 p.Gln542Glu Uncertain significance Single submitter
- ATP2C2 p.Gln763His Uncertain significance Single submitter
- ATP2C2 p.Gln777Arg Uncertain significance Single submitter
- ATP2C2 p.Glu100Lys Uncertain significance Single submitter
- ATP2C2 p.Glu132Ala Uncertain significance Single submitter
- ATP2C2 p.Glu161Asp Uncertain significance Single submitter
- ATP2C2 p.Glu175Gly Uncertain significance Single submitter
- ATP2C2 p.Glu224Lys Uncertain significance Single submitter
- ATP2C2 p.Glu3Gly Uncertain significance Single submitter
- ATP2C2 p.Glu458Lys Uncertain significance Single submitter
- ATP2C2 p.Glu501Lys Uncertain significance Single submitter
- ATP2C2 p.Glu591Lys Uncertain significance Single submitter
- ATP2C2 p.Glu633Asp Uncertain significance Single submitter
- ATP2C2 p.Glu830Ala Uncertain significance Single submitter
- ATP2C2 p.Gly18Arg Uncertain significance Single submitter
- ATP2C2 p.Gly19Ser Uncertain significance Single submitter
- ATP2C2 p.Gly221Arg Uncertain significance Single submitter
- ATP2C2 p.Gly259Trp Uncertain significance Single submitter
- ATP2C2 p.Gly271Glu Uncertain significance Single submitter
- ATP2C2 p.Gly327Arg Uncertain significance Single submitter
- ATP2C2 p.Gly615Ser Uncertain significance Single submitter
- ATP2C2 p.Gly675Trp Uncertain significance Single submitter
- ATP2C2 p.Gly722Val Uncertain significance Single submitter
- ATP2C2 p.Gly780Arg Uncertain significance Single submitter
- ATP2C2 p.Gly819Arg Uncertain significance Single submitter
- ATP2C2 p.Gly914Ala Uncertain significance Single submitter
- ATP2C2 p.His654Arg Uncertain significance Single submitter
- ATP2C2 p.His873Gln Uncertain significance Single submitter
- ATP2C2 p.Ile150Phe Uncertain significance Single submitter
- ATP2C2 p.Ile196Val Uncertain significance Single submitter
- ATP2C2 p.Ile305Val Uncertain significance Single submitter
- ATP2C2 p.Ile478Thr Uncertain significance Single submitter
- ATP2C2 p.Ile575Thr Uncertain significance Single submitter
- ATP2C2 p.Ile599Val Uncertain significance Single submitter
- ATP2C2 p.Ile659Asn Uncertain significance Single submitter
- ATP2C2 p.Ile659Val Uncertain significance Single submitter
- ATP2C2 p.Ile668Thr Uncertain significance Single submitter
- ATP2C2 p.Ile921Val Uncertain significance Single submitter
- ATP2C2 p.Leu194Pro Uncertain significance Single submitter
- ATP2C2 p.Leu300Phe Uncertain significance Single submitter
- ATP2C2 p.Leu461Trp Uncertain significance Single submitter
- ATP2C2 p.Leu563Val Uncertain significance Single submitter
- ATP2C2 p.Leu566Pro Uncertain significance Single submitter
- ATP2C2 p.Leu569Pro Uncertain significance Single submitter
- ATP2C2 p.Leu656Val Uncertain significance Single submitter
- ATP2C2 p.Leu749Arg Uncertain significance Single submitter
- ATP2C2 p.Leu821Arg Uncertain significance Single submitter
- ATP2C2 p.Leu851Ile Uncertain significance Single submitter
- ATP2C2 p.Leu851Pro Uncertain significance Single submitter
- ATP2C2 p.Leu884Val Uncertain significance Single submitter
- ATP2C2 p.Lys11Arg Uncertain significance Single submitter
- ATP2C2 p.Lys449Asn Uncertain significance Single submitter
- ATP2C2 p.Lys47Glu Uncertain significance Single submitter
- ATP2C2 p.Lys657Arg Uncertain significance Single submitter
- ATP2C2 p.Lys730Arg Uncertain significance Single submitter
- ATP2C2 p.Lys862Asn Uncertain significance Single submitter
- ATP2C2 p.Met277Lys Uncertain significance Single submitter
- ATP2C2 p.Met310Val Uncertain significance Single submitter
- ATP2C2 p.Met522Ile Uncertain significance Single submitter
- ATP2C2 p.Met716Val Uncertain significance Single submitter
- ATP2C2 p.Met811Ile Uncertain significance Single submitter
- ATP2C2 p.Met874Ile Uncertain significance Single submitter
- ATP2C2 p.Met941Ile Uncertain significance Single submitter
- ATP2C2 p.Phe753Leu Uncertain significance Single submitter
- ATP2C2 p.Phe80Leu Uncertain significance Single submitter
- ATP2C2 p.Phe899Cys Uncertain significance Single submitter
- ATP2C2 p.Pro283Ala Uncertain significance Single submitter
- ATP2C2 p.Pro340Leu Uncertain significance Single submitter
- ATP2C2 p.Pro936Ser Uncertain significance Single submitter
- ATP2C2 p.Ser121Pro Uncertain significance Single submitter
- ATP2C2 p.Ser155Trp Uncertain significance Single submitter
- ATP2C2 p.Ser193Tyr Uncertain significance Single submitter
- ATP2C2 p.Ser302Pro Uncertain significance Single submitter
- ATP2C2 p.Ser329Arg Uncertain significance Single submitter
- ATP2C2 p.Ser38Arg Uncertain significance Single submitter
- ATP2C2 p.Ser38Asn Uncertain significance Single submitter
- ATP2C2 p.Ser631Arg Uncertain significance Single submitter
- ATP2C2 p.Thr234Ile Uncertain significance Single submitter
- ATP2C2 p.Thr381Met Uncertain significance Single submitter
- ATP2C2 p.Thr500Ala Uncertain significance Single submitter
- ATP2C2 p.Thr600Met Uncertain significance Single submitter
- ATP2C2 p.Thr75Ala Uncertain significance Single submitter
- ATP2C2 p.Thr901Arg Uncertain significance Single submitter
- ATP2C2 p.Thr901Lys Uncertain significance Single submitter
- ATP2C2 p.Trp766Cys Uncertain significance Single submitter
- ATP2C2 p.Tyr519Ser Uncertain significance Single submitter
- ATP2C2 p.Tyr877Phe Uncertain significance Single submitter
- ATP2C2 p.Val141Gly Uncertain significance Single submitter
- ATP2C2 p.Val144Leu Uncertain significance Single submitter
- ATP2C2 p.Val187Ala Uncertain significance Single submitter
- ATP2C2 p.Val252Leu Uncertain significance Single submitter
- ATP2C2 p.Val580Ile Uncertain significance Single submitter
- ATP2C2 p.Val641Leu Uncertain significance Single submitter
- ATP2C2 p.Val752Leu Uncertain significance Single submitter
- ATP2C2 p.Val796Ala Uncertain significance Single submitter
- ATP2C2 p.Val847Ala Uncertain significance Single submitter
- ATP2C2 p.Val847Leu Uncertain significance Single submitter
Predictors split 156
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 156
- ATP2C2 p.Ala813Val Uncertain significance Multiple submitters
- ATP2C2 p.Arg797Trp Benign Multiple submitters
- ATP2C2 p.Gly411Ser Benign Multiple submitters
- ATP2C2 p.Leu907Pro Benign Multiple submitters
- ATP2C2 p.Tyr877Ser Uncertain significance Multiple submitters
- ATP2C2 p.Ala334Thr Uncertain significance Single submitter
- ATP2C2 p.Ala355Val Uncertain significance Single submitter
- ATP2C2 p.Ala463Ser Uncertain significance Single submitter
- ATP2C2 p.Ala57Val Uncertain significance Single submitter
- ATP2C2 p.Ala661Gly Uncertain significance Single submitter
- ATP2C2 p.Ala679Thr Uncertain significance Single submitter
- ATP2C2 p.Ala718Ser Uncertain significance Single submitter
- ATP2C2 p.Ala743Ser Conflicting Single submitter
- ATP2C2 p.Ala743Thr Uncertain significance Single submitter
- ATP2C2 p.Ala761Thr Uncertain significance Single submitter
- ATP2C2 p.Ala833Pro Uncertain significance Single submitter
- ATP2C2 p.Ala888Val Uncertain significance Single submitter
- ATP2C2 p.Ala916Val Uncertain significance Single submitter
- ATP2C2 p.Arg184Gln Uncertain significance Single submitter
- ATP2C2 p.Arg205Gln Uncertain significance Single submitter
- ATP2C2 p.Arg353Gly Uncertain significance Single submitter
- ATP2C2 p.Arg353Trp Uncertain significance Single submitter
- ATP2C2 p.Arg401Cys Uncertain significance Single submitter
- ATP2C2 p.Arg401His Likely benign Single submitter
- ATP2C2 p.Arg565Pro Uncertain significance Single submitter
- ATP2C2 p.Arg612Gly Uncertain significance Single submitter
- ATP2C2 p.Arg734Gln Uncertain significance Single submitter
- ATP2C2 p.Arg837Cys Uncertain significance Single submitter
- ATP2C2 p.Arg858Cys Uncertain significance Single submitter
- ATP2C2 p.Arg85His Uncertain significance Single submitter
- ATP2C2 p.Arg86Gln Uncertain significance Single submitter
- ATP2C2 p.Asn443Thr Uncertain significance Single submitter
- ATP2C2 p.Asn475His Uncertain significance Single submitter
- ATP2C2 p.Asp238Gly Uncertain significance Single submitter
- ATP2C2 p.Asp292Glu Uncertain significance Single submitter
- ATP2C2 p.Asp710Asn Uncertain significance Single submitter
- ATP2C2 p.Asp785Val Uncertain significance Single submitter
- ATP2C2 p.Asp787Glu Uncertain significance Single submitter
- ATP2C2 p.Asp97Tyr Uncertain significance Single submitter
- ATP2C2 p.Cys70Phe Uncertain significance Single submitter
- ATP2C2 p.Gln179Glu Uncertain significance Single submitter
- ATP2C2 p.Gln278His Uncertain significance Single submitter
- ATP2C2 p.Gln535His Uncertain significance Single submitter
- ATP2C2 p.Glu160Gln Uncertain significance Single submitter
- ATP2C2 p.Glu266Lys Uncertain significance Single submitter
- ATP2C2 p.Glu280Val Uncertain significance Single submitter
- ATP2C2 p.Glu543Gly Uncertain significance Single submitter
- ATP2C2 p.Glu562Lys Conflicting Single submitter
- ATP2C2 p.Glu562Val Uncertain significance Single submitter
- ATP2C2 p.Glu605Gln Uncertain significance Single submitter
- ATP2C2 p.Glu636Lys Uncertain significance Single submitter
- ATP2C2 p.Glu79Val Conflicting Single submitter
- ATP2C2 p.Gly14Asp Uncertain significance Single submitter
- ATP2C2 p.Gly593Asp Uncertain significance Single submitter
- ATP2C2 p.His654Tyr Uncertain significance Single submitter
- ATP2C2 p.Ile309Leu Uncertain significance Single submitter
- ATP2C2 p.Ile312Thr Likely benign Single submitter
- ATP2C2 p.Ile335Val Uncertain significance Single submitter
- ATP2C2 p.Ile473Thr Uncertain significance Single submitter
- ATP2C2 p.Ile715Met Uncertain significance Single submitter
- ATP2C2 p.Ile725Val Uncertain significance Single submitter
- ATP2C2 p.Ile729Met Uncertain significance Single submitter
- ATP2C2 p.Ile741Leu Uncertain significance Single submitter
- ATP2C2 p.Ile747Met Uncertain significance Single submitter
- ATP2C2 p.Ile806Met Uncertain significance Single submitter
- ATP2C2 p.Ile816Val Uncertain significance Single submitter
- ATP2C2 p.Ile890Phe Uncertain significance Single submitter
- ATP2C2 p.Leu186Val Uncertain significance Single submitter
- ATP2C2 p.Leu298Met Uncertain significance Single submitter
- ATP2C2 p.Leu320Pro Uncertain significance Single submitter
- ATP2C2 p.Leu321Met Uncertain significance Single submitter
- ATP2C2 p.Leu339Met Uncertain significance Single submitter
- ATP2C2 p.Leu541Pro Uncertain significance Single submitter
- ATP2C2 p.Leu608Trp Uncertain significance Single submitter
- ATP2C2 p.Leu637Val Uncertain significance Single submitter
- ATP2C2 p.Leu682Val Uncertain significance Single submitter
- ATP2C2 p.Leu759Val Uncertain significance Single submitter
- ATP2C2 p.Leu810Phe Uncertain significance Single submitter
- ATP2C2 p.Leu810Val Uncertain significance Single submitter
- ATP2C2 p.Leu876Phe Uncertain significance Single submitter
- ATP2C2 p.Leu880Arg Uncertain significance Single submitter
- ATP2C2 p.Leu915Ser Uncertain significance Single submitter
- ATP2C2 p.Leu925Phe Uncertain significance Single submitter
- ATP2C2 p.Lys12Asn Uncertain significance Single submitter
- ATP2C2 p.Lys284Glu Uncertain significance Single submitter
- ATP2C2 p.Lys296Asn Uncertain significance Single submitter
- ATP2C2 p.Lys356Glu Uncertain significance Single submitter
- ATP2C2 p.Lys545Thr Uncertain significance Single submitter
- ATP2C2 p.Lys700Gln Uncertain significance Single submitter
- ATP2C2 p.Lys826Asn Uncertain significance Single submitter
- ATP2C2 p.Met624Ile Uncertain significance Single submitter
- ATP2C2 p.Met828Val Uncertain significance Single submitter
- ATP2C2 p.Phe865Ile Uncertain significance Single submitter
- ATP2C2 p.Pro168Leu Uncertain significance Single submitter
- ATP2C2 p.Pro201Ala Uncertain significance Single submitter
- ATP2C2 p.Pro225Ser Uncertain significance Single submitter
- ATP2C2 p.Pro419Arg Uncertain significance Single submitter
- ATP2C2 p.Pro531Ser Uncertain significance Single submitter
- ATP2C2 p.Pro561Arg Uncertain significance Single submitter
- ATP2C2 p.Pro775Leu Uncertain significance Single submitter
- ATP2C2 p.Pro792Ser Uncertain significance Single submitter
- ATP2C2 p.Pro793Ser Uncertain significance Single submitter
- ATP2C2 p.Pro836Leu Uncertain significance Single submitter
- ATP2C2 p.Pro894Leu Uncertain significance Single submitter
- ATP2C2 p.Ser195Leu Uncertain significance Single submitter
- ATP2C2 p.Ser290Ile Uncertain significance Single submitter
- ATP2C2 p.Ser302Cys Uncertain significance Single submitter
- ATP2C2 p.Ser405Ile Uncertain significance Single submitter
- ATP2C2 p.Ser549Leu Uncertain significance Single submitter
- ATP2C2 p.Ser665Leu Uncertain significance Single submitter
- ATP2C2 p.Ser740Gly Uncertain significance Single submitter
- ATP2C2 p.Ser740Thr Uncertain significance Single submitter
- ATP2C2 p.Ser742Cys Uncertain significance Single submitter
- ATP2C2 p.Ser795Thr Uncertain significance Single submitter
- ATP2C2 p.Ser802Arg Uncertain significance Single submitter
- ATP2C2 p.Ser818Thr Uncertain significance Single submitter
- ATP2C2 p.Ser81Trp Uncertain significance Single submitter
- ATP2C2 p.Ser859Cys Uncertain significance Single submitter
- ATP2C2 p.Ser859Thr Uncertain significance Single submitter
- ATP2C2 p.Ser923Leu Uncertain significance Single submitter
- ATP2C2 p.Ser935Asn Uncertain significance Single submitter
- ATP2C2 p.Thr229Ile Uncertain significance Single submitter
- ATP2C2 p.Thr285Ala Uncertain significance Single submitter
- ATP2C2 p.Thr390Ala Uncertain significance Single submitter
- ATP2C2 p.Thr567Met Uncertain significance Single submitter
- ATP2C2 p.Thr672Ile Uncertain significance Single submitter
- ATP2C2 p.Thr696Met Uncertain significance Single submitter
- ATP2C2 p.Thr839Met Uncertain significance Single submitter
- ATP2C2 p.Thr83Met Uncertain significance Single submitter
- ATP2C2 p.Thr840Ala Uncertain significance Single submitter
- ATP2C2 p.Thr842Met Uncertain significance Single submitter
- ATP2C2 p.Tyr877Cys Uncertain significance Single submitter
- ATP2C2 p.Val102Met Conflicting Single submitter
- ATP2C2 p.Val145Leu Uncertain significance Single submitter
- ATP2C2 p.Val147Ala Uncertain significance Single submitter
- ATP2C2 p.Val246Ile Uncertain significance Single submitter
- ATP2C2 p.Val273Leu Uncertain significance Single submitter
- ATP2C2 p.Val343Ile Uncertain significance Single submitter
- ATP2C2 p.Val343Phe Uncertain significance Single submitter
- ATP2C2 p.Val351Leu Uncertain significance Single submitter
- ATP2C2 p.Val351Met Uncertain significance Single submitter
- ATP2C2 p.Val367Met Uncertain significance Single submitter
- ATP2C2 p.Val375Ile Likely benign Single submitter
- ATP2C2 p.Val415Leu Uncertain significance Single submitter
- ATP2C2 p.Val580Gly Uncertain significance Single submitter
- ATP2C2 p.Val582Ala Uncertain significance Single submitter
- ATP2C2 p.Val641Met Uncertain significance Single submitter
- ATP2C2 p.Val646Met Uncertain significance Single submitter
- ATP2C2 p.Val784Ile Uncertain significance Single submitter
- ATP2C2 p.Val919Ala Uncertain significance Single submitter
All ATP2C2 variants
Conflicting classifications of pathogenicity 6
- p.Ala743Ser Single submitter ⚠
- p.Gln319Glu Single submitter ⚠
- p.Glu562Lys Single submitter ⚠
- p.Glu79Val Single submitter ⚠
- p.Lys937Thr Single submitter ⚠
- p.Val102Met Single submitter ⚠
Benign 32
- c.2148-9C>G Multiple submitters
- c.2334-8C>T Multiple submitters
- c.2481+7G>T Multiple submitters
- c.2482-19C>G Multiple submitters
- c.2482-2A>C Multiple submitters
- p.Ala138Thr Multiple submitters
- p.Ala334= Multiple submitters
- p.Ala667= Multiple submitters
- p.Arg797Trp Multiple submitters ⚠
- p.Arg897Ser Multiple submitters
- p.Arg938Thr Multiple submitters
- p.Gly411Ser Multiple submitters ⚠
- p.Gly601= Multiple submitters
- p.Gly773= Multiple submitters
- p.Leu330= Multiple submitters
- p.Leu662= Multiple submitters
- p.Leu744= Multiple submitters
- p.Leu907Pro Multiple submitters ⚠
- p.Ser742= Multiple submitters
- c.2333+9G>T Single submitter
- c.987-7G>A Single submitter
- p.Arg256Lys Single submitter
- p.Gly780Trp Single submitter
- p.Pro894= Single submitter
- p.Ter947= Single submitter
- p.Ile150Met No assertion criteria ATP2C2-related disorder ⚠
- p.Ile196= No assertion criteria ATP2C2-related disorder
- p.Leu604Gln No assertion criteria ATP2C2-related disorder
- p.Lys474Asn No assertion criteria ATP2C2-related disorder ⚠
- p.Met466Leu No assertion criteria ATP2C2-related disorder
- p.Pro578= No assertion criteria ATP2C2-related disorder
- p.Pro775Gln No assertion criteria ATP2C2-related disorder
Likely benign 56
- p.Ala776= Multiple submitters
- p.Val879= Multiple submitters
- p.Val879Ile Multiple submitters
- c.1930-10C>T Single submitter
- c.1930-3C>T Single submitter
- c.1930-8G>A Single submitter
- c.1980+10G>A Single submitter
- c.328-5T>G Single submitter
- c.919+9A>G Single submitter
- p.Ala493= Single submitter
- p.Ala57= Single submitter
- p.Ala788Thr Single submitter
- p.Arg401His Single submitter ⚠
- p.Asn387Ser Single submitter
- p.Asn677= Single submitter
- p.Asn872= Single submitter
- p.Asp410Asn Single submitter
- p.Gly4Arg Single submitter
- p.Gly548= Single submitter
- p.Ile150= Single submitter
- p.Ile312Thr Single submitter ⚠
- p.Ile892Val Single submitter
- p.Leu364= Single submitter
- p.Leu749= Single submitter
- p.Leu755= Single submitter
- p.Leu909= Single submitter
- p.Ser322Asn Single submitter
- p.Ser935Arg Single submitter
- p.Tyr254Cys Single submitter
- p.Val126= Single submitter
- p.Val191= Single submitter
- p.Val375Ile Single submitter ⚠
- p.Val580Ala Single submitter
- p.Val632Met Single submitter
- c.1210-10C>T No assertion criteria ATP2C2-related disorder
- c.1504-3A>G No assertion criteria ATP2C2-related disorder
- c.1980+6C>T No assertion criteria ATP2C2-related disorder
- c.2217-5C>T No assertion criteria ATP2C2-related disorder
- c.2333+112T>A No assertion criteria ATP2C2-related disorder
- c.2333+148A>G No assertion criteria ATP2C2-related disorder
- c.2333+208T>C No assertion criteria ATP2C2-related disorder
- c.2481+7G>A No assertion criteria ATP2C2-related disorder
- c.987-8C>T No assertion criteria ATP2C2-related disorder
- p.Ala223= No assertion criteria ATP2C2-related disorder
- p.Ala681= No assertion criteria ATP2C2-related disorder
- p.Arg537= No assertion criteria ATP2C2-related disorder
- p.Arg640= No assertion criteria ATP2C2-related disorder
- p.Glu544= No assertion criteria ATP2C2-related disorder
- p.Gly90= No assertion criteria ATP2C2-related disorder
- p.Ile867= No assertion criteria ATP2C2-related disorder
- p.Leu52= No assertion criteria ATP2C2-related disorder
- p.Pro561Thr No assertion criteria ATP2C2-related disorder ⚠
- p.Ser750= No assertion criteria ATP2C2-related disorder
- p.Ser99= No assertion criteria ATP2C2-related disorder
- p.Thr842= No assertion criteria ATP2C2-related disorder
- p.Tyr22Cys No assertion criteria ATP2C2-related disorder ⚠
Uncertain significance 283
- p.Ala813Val Multiple submitters ⚠
- p.Tyr877Ser Multiple submitters ⚠
- c.2148-3C>G Single submitter
- p.Ala140Glu Single submitter ⚠
- p.Ala32Gly Single submitter ⚠
- p.Ala331Pro Single submitter ⚠
- p.Ala334Thr Single submitter ⚠
- p.Ala355Val Single submitter ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala438Val Single submitter ⚠
- p.Ala463Ser Single submitter ⚠
- p.Ala493Val Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Ala51Val Single submitter ⚠
- p.Ala57Val Single submitter ⚠
- p.Ala661Gly Single submitter ⚠
- p.Ala679Thr Single submitter ⚠
- p.Ala714Val Single submitter ⚠
- p.Ala718Ser Single submitter ⚠
- p.Ala743Thr Single submitter ⚠
- p.Ala761Thr Single submitter ⚠
- p.Ala776Val Single submitter ⚠
- p.Ala813Pro Single submitter ⚠
- p.Ala833Glu Single submitter ⚠
- p.Ala833Pro Single submitter ⚠
- p.Ala888Val Single submitter ⚠
- p.Ala916Val Single submitter ⚠
- p.Arg184Gln Single submitter ⚠
- p.Arg205Gln Single submitter ⚠
- p.Arg353Gly Single submitter ⚠
- p.Arg353Trp Single submitter ⚠
- p.Arg358Gln Single submitter ⚠
- p.Arg401Cys Single submitter ⚠
- p.Arg479Gly Single submitter ⚠
- p.Arg546Ser Single submitter ⚠
- p.Arg553Pro Single submitter ⚠
- p.Arg565Gln Single submitter ⚠
- p.Arg565Pro Single submitter ⚠
- p.Arg612Gly Single submitter ⚠
- p.Arg734Gln Single submitter ⚠
- p.Arg797Gln Single submitter ⚠
- p.Arg837Cys Single submitter ⚠
- p.Arg858Cys Single submitter ⚠
- p.Arg858His Single submitter ⚠
- p.Arg85His Single submitter ⚠
- p.Arg86Gln Single submitter ⚠
- p.Arg897Gly Single submitter ⚠
- p.Arg938Ser Single submitter ⚠
- p.Asn244Ile Single submitter ⚠
- p.Asn429Ile Single submitter ⚠
- p.Asn429Ser Single submitter ⚠
- p.Asn443Thr Single submitter ⚠
- p.Asn444Asp Single submitter ⚠
- p.Asn475His Single submitter ⚠
- p.Asn731Lys Single submitter ⚠
- p.Asn754Asp Single submitter ⚠
- p.Asn768His Single submitter ⚠
- p.Asn768Tyr Single submitter ⚠
- p.Asn903Lys Single submitter ⚠
- p.Asp190Val Single submitter ⚠
- p.Asp230Glu Single submitter ⚠
- p.Asp238Glu Single submitter ⚠
- p.Asp238Gly Single submitter ⚠
- p.Asp292Glu Single submitter ⚠
- p.Asp35Asn Single submitter ⚠
- p.Asp472Gly Single submitter ⚠
- p.Asp576Glu Single submitter ⚠
- p.Asp602Asn Single submitter ⚠
- p.Asp639Asn Single submitter ⚠
- p.Asp710Asn Single submitter ⚠
- p.Asp785Val Single submitter ⚠
- p.Asp787Glu Single submitter ⚠
- p.Asp97Tyr Single submitter ⚠
- p.Cys70Phe Single submitter ⚠
- p.Cys857Phe Single submitter ⚠
- p.Gln179Glu Single submitter ⚠
- p.Gln258Glu Single submitter ⚠
- p.Gln278His Single submitter ⚠
- p.Gln393Glu Single submitter ⚠
- p.Gln503Leu Single submitter ⚠
- p.Gln535His Single submitter ⚠
- p.Gln542Glu Single submitter ⚠
- p.Gln763His Single submitter ⚠
- p.Gln777Arg Single submitter ⚠
- p.Glu100Lys Single submitter ⚠
- p.Glu132Ala Single submitter ⚠
- p.Glu160Gln Single submitter ⚠
- p.Glu161Asp Single submitter ⚠
- p.Glu175Gly Single submitter ⚠
- p.Glu224Lys Single submitter ⚠
- p.Glu266Lys Single submitter ⚠
- p.Glu280Val Single submitter ⚠
- p.Glu3Gly Single submitter ⚠
- p.Glu458Lys Single submitter ⚠
- p.Glu501Lys Single submitter ⚠
- p.Glu543Gly Single submitter ⚠
- p.Glu562Val Single submitter ⚠
- p.Glu591Lys Single submitter ⚠
- p.Glu605Gln Single submitter ⚠
- p.Glu633Asp Single submitter ⚠
- p.Glu636Lys Single submitter ⚠
- p.Glu830Ala Single submitter ⚠
- p.Gly14Asp Single submitter ⚠
- p.Gly18Arg Single submitter ⚠
- p.Gly19Ser Single submitter ⚠
- p.Gly221Arg Single submitter ⚠
- p.Gly259Trp Single submitter ⚠
- p.Gly271Glu Single submitter ⚠
- p.Gly327Arg Single submitter ⚠
- p.Gly593Asp Single submitter ⚠
- p.Gly615Ser Single submitter ⚠
- p.Gly675Trp Single submitter ⚠
- p.Gly722Val Single submitter ⚠
- p.Gly780Arg Single submitter ⚠
- p.Gly819Arg Single submitter ⚠
- p.Gly914Ala Single submitter ⚠
- p.His654Arg Single submitter ⚠
- p.His654Tyr Single submitter ⚠
- p.His873Gln Single submitter ⚠
- p.Ile150Phe Single submitter ⚠
- p.Ile196Val Single submitter ⚠
- p.Ile305Val Single submitter ⚠
- p.Ile309Leu Single submitter ⚠
- p.Ile335Val Single submitter ⚠
- p.Ile473Thr Single submitter ⚠
- p.Ile478Thr Single submitter ⚠
- p.Ile575Thr Single submitter ⚠
- p.Ile599Val Single submitter ⚠
- p.Ile659Asn Single submitter ⚠
- p.Ile659Val Single submitter ⚠
- p.Ile668Thr Single submitter ⚠
- p.Ile715Met Single submitter ⚠
- p.Ile725Val Single submitter ⚠
- p.Ile729Met Single submitter ⚠
- p.Ile741Leu Single submitter ⚠
- p.Ile747Met Single submitter ⚠
- p.Ile806Met Single submitter ⚠
- p.Ile816Val Single submitter ⚠
- p.Ile890Phe Single submitter ⚠
- p.Ile921Val Single submitter ⚠
- p.Leu186Val Single submitter ⚠
- p.Leu194Pro Single submitter ⚠
- p.Leu298Met Single submitter ⚠
- p.Leu300Phe Single submitter ⚠
- p.Leu320Pro Single submitter ⚠
- p.Leu321Met Single submitter ⚠
- p.Leu339Met Single submitter ⚠
- p.Leu461Trp Single submitter ⚠
- p.Leu541Pro Single submitter ⚠
- p.Leu563Val Single submitter ⚠
- p.Leu566Pro Single submitter ⚠
- p.Leu569Pro Single submitter ⚠
- p.Leu608Trp Single submitter ⚠
- p.Leu637Val Single submitter ⚠
- p.Leu656Val Single submitter ⚠
- p.Leu682Val Single submitter ⚠
- p.Leu749Arg Single submitter ⚠
- p.Leu759Val Single submitter ⚠
- p.Leu810Phe Single submitter ⚠
- p.Leu810Val Single submitter ⚠
- p.Leu821Arg Single submitter ⚠
- p.Leu851Ile Single submitter ⚠
- p.Leu851Pro Single submitter ⚠
- p.Leu876Phe Single submitter ⚠
- p.Leu880Arg Single submitter ⚠
- p.Leu884Val Single submitter ⚠
- p.Leu915Ser Single submitter ⚠
- p.Leu925Phe Single submitter ⚠
- p.Lys11Arg Single submitter ⚠
- p.Lys12Asn Single submitter ⚠
- p.Lys284Glu Single submitter ⚠
- p.Lys296Asn Single submitter ⚠
- p.Lys356Glu Single submitter ⚠
- p.Lys449Asn Single submitter ⚠
- p.Lys47Glu Single submitter ⚠
- p.Lys545Thr Single submitter ⚠
- p.Lys657Arg Single submitter ⚠
- p.Lys700Gln Single submitter ⚠
- p.Lys730Arg Single submitter ⚠
- p.Lys826Asn Single submitter ⚠
- p.Lys862Asn Single submitter ⚠
- p.Met277Lys Single submitter ⚠
- p.Met310Val Single submitter ⚠
- p.Met522Ile Single submitter ⚠
- p.Met624Ile Single submitter ⚠
- p.Met716Val Single submitter ⚠
- p.Met811Ile Single submitter ⚠
- p.Met828Val Single submitter ⚠
- p.Met874Ile Single submitter ⚠
- p.Met941Ile Single submitter ⚠
- p.Phe753Leu Single submitter ⚠
- p.Phe80Leu Single submitter ⚠
- p.Phe865Ile Single submitter ⚠
- p.Phe899Cys Single submitter ⚠
- p.Pro168Leu Single submitter ⚠
- p.Pro201Ala Single submitter ⚠
- p.Pro225Ser Single submitter ⚠
- p.Pro283Ala Single submitter ⚠
- p.Pro340Leu Single submitter ⚠
- p.Pro419Arg Single submitter ⚠
- p.Pro531Ser Single submitter ⚠
- p.Pro561Arg Single submitter ⚠
- p.Pro775Leu Single submitter ⚠
- p.Pro792Ser Single submitter ⚠
- p.Pro793Ser Single submitter ⚠
- p.Pro836Leu Single submitter ⚠
- p.Pro894Leu Single submitter ⚠
- p.Pro936Ser Single submitter ⚠
- p.Ser121Pro Single submitter ⚠
- p.Ser155Trp Single submitter ⚠
- p.Ser193Tyr Single submitter ⚠
- p.Ser195Leu Single submitter ⚠
- p.Ser290Ile Single submitter ⚠
- p.Ser302Cys Single submitter ⚠
- p.Ser302Pro Single submitter ⚠
- p.Ser329Arg Single submitter ⚠
- p.Ser38Arg Single submitter ⚠
- p.Ser38Asn Single submitter ⚠
- p.Ser405Ile Single submitter ⚠
- p.Ser549Leu Single submitter ⚠
- p.Ser631Arg Single submitter ⚠
- p.Ser665Leu Single submitter ⚠
- p.Ser740Gly Single submitter ⚠
- p.Ser740Thr Single submitter ⚠
- p.Ser742Cys Single submitter ⚠
- p.Ser795Thr Single submitter ⚠
- p.Ser802Arg Single submitter ⚠
- p.Ser818Thr Single submitter ⚠
- p.Ser81Trp Single submitter ⚠
- p.Ser859Cys Single submitter ⚠
- p.Ser859Thr Single submitter ⚠
- p.Ser923Leu Single submitter ⚠
- p.Ser935Asn Single submitter ⚠
- p.Thr229Ile Single submitter ⚠
- p.Thr234Ile Single submitter ⚠
- p.Thr285Ala Single submitter ⚠
- p.Thr381Met Single submitter ⚠
- p.Thr390Ala Single submitter ⚠
- p.Thr500Ala Single submitter ⚠
- p.Thr567Met Single submitter ⚠
- p.Thr600Met Single submitter ⚠
- p.Thr672Ile Single submitter ⚠
- p.Thr696Met Single submitter ⚠
- p.Thr75Ala Single submitter ⚠
- p.Thr839Met Single submitter ⚠
- p.Thr83Met Single submitter ⚠
- p.Thr840Ala Single submitter ⚠
- p.Thr842Met Single submitter ⚠
- p.Thr901Arg Single submitter ⚠
- p.Thr901Lys Single submitter ⚠
- p.Trp766Cys Single submitter ⚠
- p.Tyr519Ser Single submitter ⚠
- p.Tyr877Cys Single submitter ⚠
- p.Tyr877Phe Single submitter ⚠
- p.Val141Gly Single submitter ⚠
- p.Val144Leu Single submitter ⚠
- p.Val145Leu Single submitter ⚠
- p.Val147Ala Single submitter ⚠
- p.Val187Ala Single submitter ⚠
- p.Val246Ile Single submitter ⚠
- p.Val252Leu Single submitter ⚠
- p.Val273Leu Single submitter ⚠
- p.Val343Ile Single submitter ⚠
- p.Val343Phe Single submitter ⚠
- p.Val351Leu Single submitter ⚠
- p.Val351Met Single submitter ⚠
- p.Val367Met Single submitter ⚠
- p.Val415Leu Single submitter ⚠
- p.Val580Gly Single submitter ⚠
- p.Val580Ile Single submitter ⚠
- p.Val582Ala Single submitter ⚠
- p.Val641Leu Single submitter ⚠
- p.Val641Met Single submitter ⚠
- p.Val646Met Single submitter ⚠
- p.Val752Leu Single submitter ⚠
- p.Val784Ile Single submitter ⚠
- p.Val796Ala Single submitter ⚠
- p.Val847Ala Single submitter ⚠
- p.Val847Leu Single submitter ⚠
- p.Val919Ala Single submitter ⚠
- p.Val919Ile Single submitter ⚠
- c.2580+1G>A No assertion criteria ATP2C2-related disorder
- p.Ala223Asp No assertion criteria ATP2C2-related disorder ⚠