ABI2 — 35 ClinVar variants
All ClinVar germline ABI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Conflicting · 34 Uncertain significance
Full ABI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll ABI2 variants
Conflicting classifications of pathogenicity 1
- p.Tyr491Cys Single submitter neurodevelopmental disorder
Uncertain significance 34
- p.Ala128Ser Single submitter
- p.Arg219His Single submitter
- p.Arg239Gly Single submitter
- p.Arg255Trp Single submitter
- p.Arg84Gln Single submitter
- p.Asn115Ser Single submitter
- p.Asn385Lys Single submitter
- p.Asn426His Single submitter
- p.Asp142Glu Single submitter
- p.Gln386His Single submitter
- p.Glu453Lys Single submitter
- p.Gly389Arg Single submitter
- p.His122Arg Single submitter
- p.Ile141Val Single submitter
- p.Ile149Thr Single submitter
- p.Ile271Val Single submitter
- p.Ile365Val Single submitter
- p.Ile38Leu Single submitter
- p.Ile407Val Single submitter
- p.Ile507Leu Single submitter
- p.Ile90Val Single submitter
- p.Lys154Glu Single submitter
- p.Lys511Arg Single submitter
- p.Met186Val Single submitter
- p.Met221Val Single submitter
- p.Phe419Ile Single submitter
- p.Pro13Leu Single submitter
- p.Pro172Leu Single submitter
- p.Pro375Ala Single submitter
- p.Pro434Leu Single submitter
- p.Ser224Leu Single submitter
- p.Ser368Leu Single submitter
- p.Val269Ile Single submitter
- p.Val534Ile Single submitter