ABI3 — 69 ClinVar variants
All ClinVar germline ABI3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
3 Benign · 4 Likely benign · 62 Uncertain significance
Full ABI3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABI3 p.Ala126Ser Uncertain significance Single submitter
- ABI3 p.Ala173Gly Uncertain significance Single submitter
- ABI3 p.Ala173Ser Uncertain significance Single submitter
- ABI3 p.Ala178Thr Uncertain significance Single submitter
- ABI3 p.Ala18Thr Uncertain significance Single submitter
- ABI3 p.Ala204Val Uncertain significance Single submitter
- ABI3 p.Ala208Glu Uncertain significance Single submitter
- ABI3 p.Ala208Pro Uncertain significance Single submitter
- ABI3 p.Ala208Val Uncertain significance Single submitter
- ABI3 p.Ala307Ser Uncertain significance Single submitter
- ABI3 p.Arg107Met Uncertain significance Single submitter
- ABI3 p.Arg16Gln Uncertain significance Single submitter
- ABI3 p.Arg16Leu Uncertain significance Single submitter
- ABI3 p.Arg184Lys Uncertain significance Single submitter
- ABI3 p.Arg339Cys Uncertain significance Single submitter
- ABI3 p.Arg89Cys Uncertain significance Single submitter
- ABI3 p.Arg89His Uncertain significance Single submitter
- ABI3 p.Cys33Phe Uncertain significance Single submitter
- ABI3 p.Glu128Asp Uncertain significance Single submitter
- ABI3 p.Glu269Gln Uncertain significance Single submitter
- ABI3 p.Glu269Lys Uncertain significance Single submitter
- ABI3 p.Gly200Arg Uncertain significance Single submitter
- ABI3 p.Gly200Asp Uncertain significance Single submitter
- ABI3 p.Gly200Ser Uncertain significance Single submitter
- ABI3 p.Gly289Arg Uncertain significance Single submitter
- ABI3 p.Ile153Val Uncertain significance Single submitter
- ABI3 p.Leu130Pro Uncertain significance Single submitter
- ABI3 p.Leu7Pro Uncertain significance Single submitter
- ABI3 p.Lys227Met Uncertain significance Single submitter
- ABI3 p.Phe329Ser Uncertain significance Single submitter
- ABI3 p.Pro131Ser Uncertain significance Single submitter
- ABI3 p.Pro132Ala Uncertain significance Single submitter
- ABI3 p.Pro191Leu Uncertain significance Single submitter
- ABI3 p.Pro245Ala Uncertain significance Single submitter
- ABI3 p.Pro256Thr Uncertain significance Single submitter
- ABI3 p.Pro272Ser Uncertain significance Single submitter
- ABI3 p.Pro318Ser Uncertain significance Single submitter
- ABI3 p.Ser328Phe Uncertain significance Single submitter
- ABI3 p.Ser342Pro Uncertain significance Single submitter
- ABI3 p.Ser91Arg Uncertain significance Single submitter
- ABI3 p.Thr41Pro Uncertain significance Single submitter
- ABI3 p.Thr72Ser Uncertain significance Single submitter
- ABI3 p.Thr92Met Uncertain significance Single submitter
- ABI3 p.Val197Leu Uncertain significance Single submitter
- ABI3 p.Val197Met Uncertain significance Single submitter
- ABI3 p.Val305Met Uncertain significance Single submitter
-
ABI3 p.Val97Glu
Uncertain significance
Single submitter
Early-onset dementia of unclear type
Predictors split 12
The independent predictors disagree with each other — read with care.
- ABI3 p.Arg44Trp Uncertain significance Single submitter
- ABI3 p.Arg84Trp Uncertain significance Single submitter
- ABI3 p.Glu287Lys Uncertain significance Single submitter
- ABI3 p.Gly183Trp Uncertain significance Single submitter
- ABI3 p.His100Arg Uncertain significance Single submitter
- ABI3 p.Ile149Thr Uncertain significance Single submitter
- ABI3 p.Met99Thr Uncertain significance Single submitter
- ABI3 p.Pro127Ala Uncertain significance Single submitter
- ABI3 p.Pro282Thr Uncertain significance Single submitter
- ABI3 p.Ser210Phe Uncertain significance Single submitter
- ABI3 p.Val97Ala Uncertain significance Single submitter
- ABI3 p.Val97Met Uncertain significance Single submitter
All ABI3 variants
Benign 3
- p.Glu87= Multiple submitters
- p.Pro174= Multiple submitters
- c.285+9C>T Single submitter
Likely benign 4
- p.Pro299= Single submitter
- p.Val124Ile Single submitter
- p.Val337Ile Single submitter
- p.Val349Ile Single submitter
Uncertain significance 62
- p.Ala126Ser Single submitter ⚠
- p.Ala173Gly Single submitter ⚠
- p.Ala173Ser Single submitter ⚠
- p.Ala178Thr Single submitter ⚠
- p.Ala18Thr Single submitter ⚠
- p.Ala204Val Single submitter ⚠
- p.Ala208Glu Single submitter ⚠
- p.Ala208Pro Single submitter ⚠
- p.Ala208Val Single submitter ⚠
- p.Ala307Ser Single submitter ⚠
- p.Ala81Pro Single submitter
- p.Arg107Met Single submitter ⚠
- p.Arg16Gln Single submitter ⚠
- p.Arg16Leu Single submitter ⚠
- p.Arg184Lys Single submitter ⚠
- p.Arg339Cys Single submitter ⚠
- p.Arg44Trp Single submitter ⚠
- p.Arg84Trp Single submitter ⚠
- p.Arg89Cys Single submitter ⚠
- p.Arg89His Single submitter ⚠
- p.Cys33Phe Single submitter ⚠
- p.Glu128Asp Single submitter ⚠
- p.Glu269Gln Single submitter ⚠
- p.Glu269Lys Single submitter ⚠
- p.Glu287Lys Single submitter ⚠
- p.Gly110Ser Single submitter
- p.Gly183Trp Single submitter ⚠
- p.Gly200Arg Single submitter ⚠
- p.Gly200Asp Single submitter ⚠
- p.Gly200Ser Single submitter ⚠
- p.Gly289Arg Single submitter ⚠
- p.His100Arg Single submitter ⚠
- p.Ile149Thr Single submitter ⚠
- p.Ile153Val Single submitter ⚠
- p.Leu130Pro Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Lys227Met Single submitter ⚠
- p.Met99Thr Single submitter ⚠
- p.Phe329Ser Single submitter ⚠
- p.Pro127Ala Single submitter ⚠
- p.Pro131Ser Single submitter ⚠
- p.Pro132Ala Single submitter ⚠
- p.Pro191Leu Single submitter ⚠
- p.Pro245Ala Single submitter ⚠
- p.Pro256Thr Single submitter ⚠
- p.Pro272Ser Single submitter ⚠
- p.Pro282Thr Single submitter ⚠
- p.Pro318Ser Single submitter ⚠
- p.Ser210Phe Single submitter ⚠
- p.Ser328Phe Single submitter ⚠
- p.Ser328Pro Single submitter
- p.Ser342Pro Single submitter ⚠
- p.Ser91Arg Single submitter ⚠
- p.Thr41Pro Single submitter ⚠
- p.Thr72Ser Single submitter ⚠
- p.Thr92Met Single submitter ⚠
- p.Val197Leu Single submitter ⚠
- p.Val197Met Single submitter ⚠
- p.Val305Met Single submitter ⚠
- p.Val97Ala Single submitter ⚠
- p.Val97Glu Single submitter Early-onset dementia of unclear type ⚠
- p.Val97Met Single submitter ⚠