GBA3 — 67 ClinVar variants
All ClinVar germline GBA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
3 Likely benign · 64 Uncertain significance
Full GBA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll GBA3 variants
Likely benign 3
- c.376A>G Single submitter
- c.989C>T Single submitter
- p.Lys215Glu Single submitter
Uncertain significance 64
- c.1045G>C Single submitter
- c.1087A>G Single submitter
- c.1118A>T Single submitter
- c.1136G>A Single submitter
- c.1150C>G Single submitter
- c.115G>A Single submitter
- c.1160C>G Single submitter
- c.1166G>A Single submitter
- c.1268T>C Single submitter
- c.1294C>T Single submitter
- c.1321G>A Single submitter
- c.1321G>C Single submitter
- c.1364A>G Single submitter
- c.1375A>C Single submitter
- c.148G>T Single submitter
- c.175T>C Single submitter
- c.203A>G Single submitter
- c.224G>C Single submitter
- c.259G>A Single submitter
- c.274A>G Single submitter
- c.294T>G Single submitter
- c.311T>C Single submitter
- c.374A>G Single submitter
- c.398G>C Single submitter
- c.406G>A Single submitter
- c.41C>T Single submitter
- c.455C>T Single submitter
- c.500A>C Single submitter
- c.583C>T Single submitter
- c.638G>A Single submitter
- c.896G>A Single submitter
- c.971T>G Single submitter
- c.97G>T Single submitter
- p.Ala226Val Single submitter
- p.Ala330Glu Single submitter
- p.Ala416Thr Single submitter
- p.Arg461Gln Single submitter
- p.Arg75Cys Single submitter
- p.Asn410Asp Single submitter
- p.Asn422Asp Single submitter
- p.Asp23Asn Single submitter
- p.Asp33Asn Single submitter
- p.Asp62Gly Single submitter
- p.Gln378Lys Single submitter
- p.Glu140Gln Single submitter
- p.Glu19Gly Single submitter
- p.Glu291Lys Single submitter
- p.Gly132Asp Single submitter
- p.Gly6Arg Single submitter
- p.His195Pro Single submitter
- p.His37Tyr Single submitter
- p.Ile198Met Single submitter
- p.Phe303Cys Single submitter
- p.Pro124Leu Single submitter
- p.Pro181Leu Single submitter
- p.Pro282Ser Single submitter
- p.Pro377Thr Single submitter
- p.Ser452Leu Single submitter
- p.Thr88Ala Single submitter
- p.Thr88Met Single submitter
- p.Tyr99Phe Single submitter
- p.Val168Phe Single submitter
- p.Val268Leu Single submitter
- p.Val438Ile Single submitter