ATP8B2 — 91 ClinVar variants
All ClinVar germline ATP8B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
2 Benign · 2 Likely benign · 87 Uncertain significance
Full ATP8B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll ATP8B2 variants
Uncertain significance 87
- c.-37-294G>T Single submitter
- p.Ala1153Ser Single submitter
- p.Ala456Thr Single submitter
- p.Ala589Val Single submitter
- p.Ala716Val Single submitter
- p.Ala754Gly Single submitter
- p.Ala959Thr Single submitter
- p.Ala988Thr Single submitter
- p.Arg1100Leu Single submitter
- p.Arg1121His Single submitter
- p.Arg1126Cys Single submitter
- p.Arg1148Trp Single submitter
- p.Arg1170Leu Single submitter
- p.Arg177Cys Single submitter
- p.Arg177His Single submitter
- p.Arg232Trp Single submitter
- p.Arg305Cys Single submitter
- p.Arg614Gln Single submitter
- p.Arg615His Single submitter
- p.Arg710Trp Single submitter
- p.Arg717Gln Single submitter
- p.Arg717Trp Single submitter
- p.Arg932Gln Single submitter
- p.Asn950Ser Single submitter
- p.Asp1045Asn Single submitter
- p.Asp1094His Single submitter
- p.Asp1097Asn Single submitter
- p.Asp20Glu Single submitter
- p.Asp844Asn Single submitter
- p.Cys234Arg Single submitter
- p.Cys33Tyr Single submitter
- p.Glu171Lys Single submitter
- p.Glu387Asp Single submitter
- p.Glu484Lys Single submitter
- p.Glu610Lys Single submitter
- p.Glu773Lys Single submitter
- p.Gly1120Val Single submitter
- p.Gly1128Ser Single submitter
- p.Gly590Glu Single submitter
- p.Gly730Ser Single submitter
- p.Gly815Glu Single submitter
- p.Gly984Ala Single submitter
- p.His704Arg Single submitter
- p.Ile684Val Single submitter
- p.Ile812Thr Single submitter
- p.Ile82Val Single submitter
- p.Leu1072Phe Single submitter
- p.Leu123Val Single submitter
- p.Leu208Gln Single submitter
- p.Leu342Phe Single submitter
- p.Leu49Phe Single submitter
- p.Leu603Val Single submitter
- p.Leu707Val Single submitter
- p.Leu945Met Single submitter
- p.Lys601Arg Single submitter
- p.Met1142Thr Single submitter
- p.Met721Thr Single submitter
- p.Phe364Leu Single submitter
- p.Phe731Ser Single submitter
- p.Pro1064Leu Single submitter
- p.Pro1093Leu Single submitter
- p.Pro311Arg Single submitter
- p.Pro311Leu Single submitter
- p.Pro9Leu Single submitter
- p.Ser1168Asn Single submitter
- p.Ser1174Arg Single submitter
- p.Ser1181Thr Single submitter
- p.Ser154Gly Single submitter
- p.Ser155Gly Single submitter
- p.Ser190Thr Single submitter
- p.Ser545Trp Single submitter
- p.Thr1098Met Single submitter
- p.Thr370Met Single submitter
- p.Thr378Ile Single submitter
- p.Thr394Met Single submitter
- p.Thr732Ile Single submitter
- p.Thr996Ser Single submitter
- p.Trp279Ser Single submitter
- p.Tyr101His Single submitter
- p.Tyr874Cys Single submitter
- p.Tyr963His Single submitter
- p.Val1054Ala Single submitter
- p.Val1081Leu Single submitter
- p.Val1082Ala Single submitter
- p.Val56Ile Single submitter
- p.Val900Ile Single submitter
- p.Val966Leu Single submitter