ABTB1 — 107 ClinVar variants
All ClinVar germline ABTB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
7 Likely benign · 100 Uncertain significance
Full ABTB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABTB1 p.Ala233Val Uncertain significance Single submitter
- ABTB1 p.Ala356Thr Uncertain significance Single submitter
- ABTB1 p.Ala420Val Uncertain significance Single submitter
- ABTB1 p.Ala93Ser Uncertain significance Single submitter
- ABTB1 p.Arg293Leu Uncertain significance Single submitter
- ABTB1 p.Arg32Trp Uncertain significance Single submitter
- ABTB1 p.Arg392Cys Uncertain significance Single submitter
- ABTB1 p.Arg395Gln Uncertain significance Single submitter
- ABTB1 p.Arg61Ser Uncertain significance Single submitter
- ABTB1 p.Arg82Cys Uncertain significance Single submitter
- ABTB1 p.Arg83Gln Uncertain significance Single submitter
- ABTB1 p.Asp246Asn Uncertain significance Single submitter
- ABTB1 p.Asp266Asn Uncertain significance Single submitter
- ABTB1 p.Asp295Glu Uncertain significance Single submitter
- ABTB1 p.Asp2Gly Uncertain significance Single submitter
- ABTB1 p.Asp33Val Uncertain significance Single submitter
- ABTB1 p.Gln194Arg Uncertain significance Single submitter
- ABTB1 p.Gln374Arg Uncertain significance Single submitter
- ABTB1 p.Gln432Glu Uncertain significance Single submitter
- ABTB1 p.Gln452Arg Uncertain significance Single submitter
- ABTB1 p.Glu205Lys Uncertain significance Single submitter
- ABTB1 p.Glu209Lys Uncertain significance Single submitter
- ABTB1 p.Glu309Gly Uncertain significance Single submitter
- ABTB1 p.Glu424Asp Uncertain significance Single submitter
- ABTB1 p.Glu458Lys Uncertain significance Single submitter
- ABTB1 p.Glu50Asp Uncertain significance Single submitter
- ABTB1 p.His114Arg Uncertain significance Single submitter
- ABTB1 p.His323Arg Uncertain significance Single submitter
- ABTB1 p.Ile474Val Uncertain significance Single submitter
- ABTB1 p.Ile81Met Uncertain significance Single submitter
- ABTB1 p.Leu393Pro Uncertain significance Single submitter
- ABTB1 p.Leu55Phe Uncertain significance Single submitter
- ABTB1 p.Lys224Thr Uncertain significance Single submitter
- ABTB1 p.Phe297Leu Uncertain significance Single submitter
- ABTB1 p.Phe417Cys Uncertain significance Single submitter
- ABTB1 p.Pro231Leu Uncertain significance Single submitter
- ABTB1 p.Pro235Leu Uncertain significance Single submitter
- ABTB1 p.Pro251Ala Uncertain significance Single submitter
- ABTB1 p.Ser202Gly Uncertain significance Single submitter
- ABTB1 p.Thr38Ile Uncertain significance Single submitter
- ABTB1 p.Thr434Met Uncertain significance Single submitter
- ABTB1 p.Val182Ile Uncertain significance Single submitter
- ABTB1 p.Val211Ala Uncertain significance Single submitter
- ABTB1 p.Val211Leu Uncertain significance Single submitter
- ABTB1 p.Val421Ala Uncertain significance Single submitter
Predictors split 57
The independent predictors disagree with each other — read with care.
- ABTB1 p.Ala165Ser Uncertain significance Single submitter
- ABTB1 p.Ala168Ser Uncertain significance Single submitter
- ABTB1 p.Ala216Pro Uncertain significance Single submitter
- ABTB1 p.Ala216Val Likely benign Single submitter
- ABTB1 p.Ala312Val Uncertain significance Single submitter
- ABTB1 p.Ala373Thr Uncertain significance Single submitter
- ABTB1 p.Arg127Gln Uncertain significance Single submitter
- ABTB1 p.Arg130Cys Uncertain significance Single submitter
- ABTB1 p.Arg136His Uncertain significance Single submitter
- ABTB1 p.Arg157Gly Uncertain significance Single submitter
- ABTB1 p.Arg177Cys Uncertain significance Single submitter
- ABTB1 p.Arg238Trp Uncertain significance Single submitter
- ABTB1 p.Arg395Trp Uncertain significance Single submitter
- ABTB1 p.Arg414Gln Uncertain significance Single submitter
- ABTB1 p.Arg414Pro Uncertain significance Single submitter
- ABTB1 p.Arg414Trp Uncertain significance Single submitter
- ABTB1 p.Arg444Cys Uncertain significance Single submitter
- ABTB1 p.Arg444His Uncertain significance Single submitter
- ABTB1 p.Arg463Cys Uncertain significance Single submitter
- ABTB1 p.Arg463His Uncertain significance Single submitter
- ABTB1 p.Arg61Cys Uncertain significance Single submitter
- ABTB1 p.Arg83Trp Uncertain significance Single submitter
- ABTB1 p.Arg86His Uncertain significance Single submitter
- ABTB1 p.Asn65Ser Uncertain significance Single submitter
- ABTB1 p.Asp103Asn Uncertain significance Single submitter
- ABTB1 p.Asp328Asn Uncertain significance Single submitter
- ABTB1 p.Asp357Asn Uncertain significance Single submitter
- ABTB1 p.Asp398Gly Uncertain significance Single submitter
- ABTB1 p.Asp68Asn Uncertain significance Single submitter
- ABTB1 p.Glu310Asp Uncertain significance Single submitter
- ABTB1 p.Gly112Asp Uncertain significance Single submitter
- ABTB1 p.Gly112Val Uncertain significance Single submitter
- ABTB1 p.Gly315Arg Uncertain significance Single submitter
- ABTB1 p.Gly383Cys Uncertain significance Single submitter
- ABTB1 p.Gly383Val Uncertain significance Single submitter
- ABTB1 p.Leu53Phe Uncertain significance Single submitter
- ABTB1 p.Lys210Asn Uncertain significance Single submitter
- ABTB1 p.Lys89Glu Uncertain significance Single submitter
- ABTB1 p.Met358Leu Uncertain significance Single submitter
- ABTB1 p.Phe391Leu Uncertain significance Single submitter
- ABTB1 p.Pro163Ala Uncertain significance Single submitter
- ABTB1 p.Pro163Ser Uncertain significance Single submitter
- ABTB1 p.Pro261His Uncertain significance Single submitter
- ABTB1 p.Pro318Leu Uncertain significance Single submitter
- ABTB1 p.Pro327Ala Uncertain significance Single submitter
- ABTB1 p.Ser308Arg Uncertain significance Single submitter
- ABTB1 p.Ser345Cys Uncertain significance Single submitter
- ABTB1 p.Ser455Arg Uncertain significance Single submitter
- ABTB1 p.Ser78Asn Uncertain significance Single submitter
- ABTB1 p.Thr146Ala Uncertain significance Single submitter
- ABTB1 p.Thr380Ile Uncertain significance Single submitter
- ABTB1 p.Thr453Asn Uncertain significance Single submitter
- ABTB1 p.Val117Met Uncertain significance Single submitter
- ABTB1 p.Val164Met Uncertain significance Single submitter
- ABTB1 p.Val355Ile Likely benign Single submitter
- ABTB1 p.Val418Met Uncertain significance Single submitter
- ABTB1 p.Val447Met Uncertain significance Single submitter
All ABTB1 variants
Likely benign 7
- p.Ala216Val Single submitter ⚠
- p.Arg386= Single submitter
- p.Met337Val Single submitter
- p.Val132Ile Single submitter
- p.Val320Ile Single submitter
- p.Val329Ile Single submitter
- p.Val355Ile Single submitter ⚠
Uncertain significance 100
- p.Ala165Ser Single submitter ⚠
- p.Ala168Ser Single submitter ⚠
- p.Ala216Pro Single submitter ⚠
- p.Ala233Val Single submitter ⚠
- p.Ala312Val Single submitter ⚠
- p.Ala356Thr Single submitter ⚠
- p.Ala373Thr Single submitter ⚠
- p.Ala420Val Single submitter ⚠
- p.Ala93Ser Single submitter ⚠
- p.Arg127Gln Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg157Gly Single submitter ⚠
- p.Arg177Cys Single submitter ⚠
- p.Arg238Trp Single submitter ⚠
- p.Arg293Leu Single submitter ⚠
- p.Arg32Trp Single submitter ⚠
- p.Arg392Cys Single submitter ⚠
- p.Arg395Gln Single submitter ⚠
- p.Arg395Trp Single submitter ⚠
- p.Arg414Gln Single submitter ⚠
- p.Arg414Pro Single submitter ⚠
- p.Arg414Trp Single submitter ⚠
- p.Arg444Cys Single submitter ⚠
- p.Arg444His Single submitter ⚠
- p.Arg463Cys Single submitter ⚠
- p.Arg463His Single submitter ⚠
- p.Arg61Cys Single submitter ⚠
- p.Arg61Ser Single submitter ⚠
- p.Arg82Cys Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Arg83Trp Single submitter ⚠
- p.Arg86His Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Asp103Asn Single submitter ⚠
- p.Asp246Asn Single submitter ⚠
- p.Asp266Asn Single submitter ⚠
- p.Asp295Glu Single submitter ⚠
- p.Asp2Gly Single submitter ⚠
- p.Asp328Asn Single submitter ⚠
- p.Asp33Val Single submitter ⚠
- p.Asp357Asn Single submitter ⚠
- p.Asp398Gly Single submitter ⚠
- p.Asp68Asn Single submitter ⚠
- p.Gln194Arg Single submitter ⚠
- p.Gln374Arg Single submitter ⚠
- p.Gln432Glu Single submitter ⚠
- p.Gln452Arg Single submitter ⚠
- p.Glu205Lys Single submitter ⚠
- p.Glu209Lys Single submitter ⚠
- p.Glu309Gly Single submitter ⚠
- p.Glu310Asp Single submitter ⚠
- p.Glu424Asp Single submitter ⚠
- p.Glu458Lys Single submitter ⚠
- p.Glu50Asp Single submitter ⚠
- p.Gly112Asp Single submitter ⚠
- p.Gly112Val Single submitter ⚠
- p.Gly315Arg Single submitter ⚠
- p.Gly383Cys Single submitter ⚠
- p.Gly383Val Single submitter ⚠
- p.His114Arg Single submitter ⚠
- p.His323Arg Single submitter ⚠
- p.Ile474Val Single submitter ⚠
- p.Ile81Met Single submitter ⚠
- p.Leu393Pro Single submitter ⚠
- p.Leu53Phe Single submitter ⚠
- p.Leu55Phe Single submitter ⚠
- p.Lys210Asn Single submitter ⚠
- p.Lys224Thr Single submitter ⚠
- p.Lys89Glu Single submitter ⚠
- p.Met358Leu Single submitter ⚠
- p.Phe297Leu Single submitter ⚠
- p.Phe391Leu Single submitter ⚠
- p.Phe417Cys Single submitter ⚠
- p.Pro163Ala Single submitter ⚠
- p.Pro163Ser Single submitter ⚠
- p.Pro231Leu Single submitter ⚠
- p.Pro235Leu Single submitter ⚠
- p.Pro251Ala Single submitter ⚠
- p.Pro261His Single submitter ⚠
- p.Pro318Leu Single submitter ⚠
- p.Pro327Ala Single submitter ⚠
- p.Ser202Gly Single submitter ⚠
- p.Ser308Arg Single submitter ⚠
- p.Ser345Cys Single submitter ⚠
- p.Ser455Arg Single submitter ⚠
- p.Ser78Asn Single submitter ⚠
- p.Thr146Ala Single submitter ⚠
- p.Thr380Ile Single submitter ⚠
- p.Thr38Ile Single submitter ⚠
- p.Thr434Met Single submitter ⚠
- p.Thr453Asn Single submitter ⚠
- p.Val117Met Single submitter ⚠
- p.Val164Met Single submitter ⚠
- p.Val182Ile Single submitter ⚠
- p.Val211Ala Single submitter ⚠
- p.Val211Leu Single submitter ⚠
- p.Val418Met Single submitter ⚠
- p.Val421Ala Single submitter ⚠
- p.Val447Met Single submitter ⚠