ABT1 — 50 ClinVar variants
All ClinVar germline ABT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
50 Uncertain significance
Full ABT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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.
- ABT1 p.Ala25Val Uncertain significance Single submitter
- ABT1 p.Ala3Val Uncertain significance Single submitter
- ABT1 p.Ala68Val Uncertain significance Single submitter
- ABT1 p.Ala9Val Uncertain significance Single submitter
- ABT1 p.Arg120Pro Uncertain significance Single submitter
- ABT1 p.Asn246Asp Uncertain significance Single submitter
- ABT1 p.Asp141Val Uncertain significance Single submitter
- ABT1 p.Asp183Asn Uncertain significance Single submitter
- ABT1 p.Gln193Lys Uncertain significance Single submitter
- ABT1 p.Gln21Arg Uncertain significance Single submitter
- ABT1 p.Gln29Glu Uncertain significance Single submitter
- ABT1 p.Gly192Arg Uncertain significance Single submitter
- ABT1 p.Gly265Arg Uncertain significance Single submitter
- ABT1 p.Gly51Arg Uncertain significance Single submitter
- ABT1 p.Gly51Ser Uncertain significance Single submitter
- ABT1 p.His61Gln Uncertain significance Single submitter
- ABT1 p.Leu171Ser Uncertain significance Single submitter
- ABT1 p.Lys40Arg Uncertain significance Single submitter
- ABT1 p.Pro228Ser Uncertain significance Single submitter
- ABT1 p.Pro257Leu Uncertain significance Single submitter
- ABT1 p.Pro259Ala Uncertain significance Single submitter
- ABT1 p.Pro266Ser Uncertain significance Single submitter
- ABT1 p.Thr128Ala Uncertain significance Single submitter
- ABT1 p.Thr22Ser Uncertain significance Single submitter
- ABT1 p.Tyr185Cys Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- ABT1 p.Ala122Val Uncertain significance Single submitter
- ABT1 p.Ala234Thr Uncertain significance Single submitter
- ABT1 p.Ala92Val Uncertain significance Single submitter
- ABT1 p.Ala93Val Uncertain significance Single submitter
- ABT1 p.Arg120His Uncertain significance Single submitter
- ABT1 p.Arg204Cys Uncertain significance Single submitter
- ABT1 p.Arg231His Uncertain significance Single submitter
- ABT1 p.Arg244Cys Uncertain significance Single submitter
- ABT1 p.Arg42Trp Uncertain significance Single submitter
- ABT1 p.Arg58Gln Uncertain significance Single submitter
- ABT1 p.Arg82Gln Uncertain significance Single submitter
- ABT1 p.Arg86Cys Uncertain significance Single submitter
- ABT1 p.Asp199Asn Uncertain significance Single submitter
- ABT1 p.Glu20Lys Uncertain significance Single submitter
- ABT1 p.Glu232Gly Uncertain significance Single submitter
- ABT1 p.Glu28Val Uncertain significance Single submitter
- ABT1 p.Glu7Lys Uncertain significance Single submitter
- ABT1 p.Gly96Arg Uncertain significance Single submitter
- ABT1 p.Leu196Ile Uncertain significance Single submitter
- ABT1 p.Leu65Arg Uncertain significance Single submitter
- ABT1 p.Met130Val Uncertain significance Single submitter
- ABT1 p.Pro129Arg Uncertain significance Single submitter
- ABT1 p.Ser154Cys Uncertain significance Single submitter
- ABT1 p.Ser208Cys Uncertain significance Single submitter
- ABT1 p.Val72Ile Uncertain significance Single submitter
All ABT1 variants
Uncertain significance 50
- p.Ala122Val Single submitter ⚠
- p.Ala234Thr Single submitter ⚠
- p.Ala25Val Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala68Val Single submitter ⚠
- p.Ala92Val Single submitter ⚠
- p.Ala93Val Single submitter ⚠
- p.Ala9Val Single submitter ⚠
- p.Arg120His Single submitter ⚠
- p.Arg120Pro Single submitter ⚠
- p.Arg204Cys Single submitter ⚠
- p.Arg231His Single submitter ⚠
- p.Arg244Cys Single submitter ⚠
- p.Arg42Trp Single submitter ⚠
- p.Arg58Gln Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Arg86Cys Single submitter ⚠
- p.Asn246Asp Single submitter ⚠
- p.Asp141Val Single submitter ⚠
- p.Asp183Asn Single submitter ⚠
- p.Asp199Asn Single submitter ⚠
- p.Gln193Lys Single submitter ⚠
- p.Gln21Arg Single submitter ⚠
- p.Gln29Glu Single submitter ⚠
- p.Glu20Lys Single submitter ⚠
- p.Glu232Gly Single submitter ⚠
- p.Glu28Val Single submitter ⚠
- p.Glu7Lys Single submitter ⚠
- p.Gly192Arg Single submitter ⚠
- p.Gly265Arg Single submitter ⚠
- p.Gly51Arg Single submitter ⚠
- p.Gly51Ser Single submitter ⚠
- p.Gly96Arg Single submitter ⚠
- p.His61Gln Single submitter ⚠
- p.Leu171Ser Single submitter ⚠
- p.Leu196Ile Single submitter ⚠
- p.Leu65Arg Single submitter ⚠
- p.Lys40Arg Single submitter ⚠
- p.Met130Val Single submitter ⚠
- p.Pro129Arg Single submitter ⚠
- p.Pro228Ser Single submitter ⚠
- p.Pro257Leu Single submitter ⚠
- p.Pro259Ala Single submitter ⚠
- p.Pro266Ser Single submitter ⚠
- p.Ser154Cys Single submitter ⚠
- p.Ser208Cys Single submitter ⚠
- p.Thr128Ala Single submitter ⚠
- p.Thr22Ser Single submitter ⚠
- p.Tyr185Cys Single submitter ⚠
- p.Val72Ile Single submitter ⚠