ABI1 — 42 ClinVar variants
All ClinVar germline ABI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Benign · 2 Likely benign · 39 Uncertain significance
Full ABI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 lean, ClinVar uncertain 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABI1 c.820+1285G>T Uncertain significance Single submitter
- ABI1 c.820+1311C>T Uncertain significance Single submitter
- ABI1 c.820+1315T>A Uncertain significance Single submitter
- ABI1 p.Ala275Val Uncertain significance Single submitter
- ABI1 p.Arg138Trp Uncertain significance Single submitter
- ABI1 p.Arg289Trp Uncertain significance Single submitter
- ABI1 p.Arg28Gly Uncertain significance Single submitter
- ABI1 p.Asn405Ser Uncertain significance Single submitter
- ABI1 p.Glu9Val Uncertain significance Single submitter
- ABI1 p.His321Arg Uncertain significance Single submitter
- ABI1 p.Ile12Thr Uncertain significance Single submitter
- ABI1 p.Ile291Met Uncertain significance Single submitter
- ABI1 p.Ile335Met Uncertain significance Single submitter
- ABI1 p.Ile335Phe Uncertain significance Single submitter
- ABI1 p.Leu232Val Uncertain significance Single submitter
- ABI1 p.Leu327Pro Uncertain significance Single submitter
- ABI1 p.Lys45Arg Uncertain significance Single submitter
- ABI1 p.Met287Val Uncertain significance Single submitter
- ABI1 p.Met379Ile Uncertain significance Single submitter
- ABI1 p.Pro268Leu Uncertain significance Single submitter
- ABI1 p.Pro273Arg Uncertain significance Single submitter
- ABI1 p.Ser267Leu Uncertain significance Single submitter
- ABI1 p.Ser292Pro Uncertain significance Single submitter
- ABI1 p.Tyr37Cys Uncertain significance Single submitter
- ABI1 p.Tyr37His Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ABI1 p.Arg189Pro Uncertain significance Single submitter
- ABI1 p.Arg293Pro Uncertain significance Single submitter
- ABI1 p.Arg357Thr Uncertain significance Single submitter
- ABI1 p.Asn117Ser Uncertain significance Single submitter
- ABI1 p.Asn361Lys Uncertain significance Single submitter
- ABI1 p.Asp42Asn Uncertain significance Single submitter
- ABI1 p.Glu202Gly Uncertain significance Single submitter
- ABI1 p.Gly443Ser Uncertain significance Single submitter
- ABI1 p.Ser216Gly Uncertain significance Single submitter
- ABI1 p.Ser246Ile Uncertain significance Single submitter
- ABI1 p.Ser296Cys Uncertain significance Single submitter
- ABI1 p.Tyr213Cys Uncertain significance Single submitter
All ABI1 variants
Benign 1
- p.Pro387= Multiple submitters
Likely benign 2
- p.Ile271Val Single submitter
- p.Pro264= Single submitter
Uncertain significance 39
- c.820+1285G>T Single submitter ⚠
- c.820+1311C>T Single submitter ⚠
- c.820+1315T>A Single submitter ⚠
- p.Ala275Val Single submitter ⚠
- p.Arg138Trp Single submitter ⚠
- p.Arg189Pro Single submitter ⚠
- p.Arg189Trp Single submitter
- p.Arg289Trp Single submitter ⚠
- p.Arg28Gly Single submitter ⚠
- p.Arg293Pro Single submitter ⚠
- p.Arg357Thr Single submitter ⚠
- p.Asn117Ser Single submitter ⚠
- p.Asn361Lys Single submitter ⚠
- p.Asn405Ser Single submitter ⚠
- p.Asp42Asn Single submitter ⚠
- p.Glu202Gly Single submitter ⚠
- p.Glu9Val Single submitter ⚠
- p.Gly443Ser Single submitter ⚠
- p.His224Arg Single submitter
- p.His321Arg Single submitter ⚠
- p.Ile12Thr Single submitter ⚠
- p.Ile291Met Single submitter ⚠
- p.Ile335Met Single submitter ⚠
- p.Ile335Phe Single submitter ⚠
- p.Leu232Val Single submitter ⚠
- p.Leu327Pro Single submitter ⚠
- p.Lys45Arg Single submitter ⚠
- p.Met287Val Single submitter ⚠
- p.Met379Ile Single submitter ⚠
- p.Pro268Leu Single submitter ⚠
- p.Pro273Arg Single submitter ⚠
- p.Ser216Gly Single submitter ⚠
- p.Ser246Ile Single submitter ⚠
- p.Ser267Leu Single submitter ⚠
- p.Ser292Pro Single submitter ⚠
- p.Ser296Cys Single submitter ⚠
- p.Tyr213Cys Single submitter ⚠
- p.Tyr37Cys Single submitter ⚠
- p.Tyr37His Single submitter ⚠