ABR — 104 ClinVar variants
All ClinVar germline ABR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
7 Benign · 7 Likely benign · 90 Uncertain significance
Full ABR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABR p.Ala62Thr Uncertain significance Single submitter
- ABR p.Ala718Thr Uncertain significance Single submitter
- ABR p.Ala846Thr Uncertain significance Single submitter
- ABR p.Arg245Gln Uncertain significance Single submitter
- ABR p.Arg272His Uncertain significance Single submitter
- ABR p.Arg316Gln Uncertain significance Single submitter
- ABR p.Arg406His Uncertain significance Single submitter
- ABR p.Arg544Trp Uncertain significance Single submitter
- ABR p.Arg63His Uncertain significance Single submitter
- ABR p.Arg762His Uncertain significance Single submitter
- ABR p.Asn580Ser Uncertain significance Single submitter
- ABR p.Asn584Ser Uncertain significance Single submitter
- ABR p.Asp735Tyr Uncertain significance Single submitter
- ABR p.Cys346Tyr Uncertain significance Single submitter
- ABR p.Glu364Asp Uncertain significance Single submitter
- ABR p.Glu777Asp Uncertain significance Single submitter
- ABR p.Glu77Asp Uncertain significance Single submitter
- ABR p.Gly182Ser Uncertain significance Single submitter
- ABR p.Gly532Ser Uncertain significance Single submitter
- ABR p.Gly646Ser Uncertain significance Single submitter
- ABR p.Gly66Asp Uncertain significance Single submitter
- ABR p.Gly78Ala Uncertain significance Single submitter
- ABR p.Gly8Val Uncertain significance Single submitter
- ABR p.His840Gln Uncertain significance Single submitter
- ABR p.Ile404Val Uncertain significance Single submitter
- ABR p.Ile745Val Uncertain significance Single submitter
- ABR p.Met380Ile Uncertain significance Single submitter
- ABR p.Met382Leu Uncertain significance Single submitter
- ABR p.Phe357Ser Uncertain significance Single submitter
- ABR p.Phe725Leu Uncertain significance Single submitter
- ABR p.Pro41Leu Uncertain significance Single submitter
- ABR p.Pro600Ser Uncertain significance Single submitter
- ABR p.Ser5Thr Uncertain significance Single submitter
- ABR p.Ser856Phe Uncertain significance Single submitter
- ABR p.Thr627Ser Uncertain significance Single submitter
- ABR p.Tyr29Cys Uncertain significance Single submitter
- ABR p.Tyr570Cys Uncertain significance Single submitter
Predictors split 55
The independent predictors disagree with each other — read with care.
- ABR p.Ala688Thr Uncertain significance Single submitter
- ABR p.Ala746Val Uncertain significance Single submitter
- ABR p.Ala829Val Uncertain significance Single submitter
- ABR p.Arg288His Uncertain significance Single submitter
- ABR p.Arg629Gln Uncertain significance Single submitter
- ABR p.Arg657His Uncertain significance Single submitter
- ABR p.Arg665Gln Uncertain significance Single submitter
- ABR p.Arg736Gln Uncertain significance Single submitter
- ABR p.Asn431Ser Uncertain significance Single submitter
- ABR p.Asp699Asn Uncertain significance Single submitter
- ABR p.Glu390Ala Uncertain significance Single submitter
- ABR p.Glu677Lys Uncertain significance Single submitter
- ABR p.Glu777Lys Uncertain significance Single submitter
- ABR p.Glu784Lys Uncertain significance Single submitter
- ABR p.Gly219Arg Uncertain significance Single submitter
- ABR p.Gly31Arg Uncertain significance Single submitter
- ABR p.Gly33Arg Uncertain significance Single submitter
- ABR p.Gly617Arg Uncertain significance Single submitter
- ABR p.Gly68Trp Uncertain significance Single submitter
- ABR p.Leu12Val Uncertain significance Single submitter
- ABR p.Leu18Phe Uncertain significance Single submitter
- ABR p.Leu773Ile Uncertain significance Single submitter
- ABR p.Lys121Gln Uncertain significance Single submitter
- ABR p.Lys581Arg Uncertain significance Single submitter
- ABR p.Lys753Arg Uncertain significance Single submitter
- ABR p.Met708Thr Uncertain significance Single submitter
- ABR p.Met708Val Uncertain significance Single submitter
- ABR p.Met742Val Uncertain significance Single submitter
- ABR p.Pro367Ser Uncertain significance Single submitter
- ABR p.Pro500Ala Uncertain significance Single submitter
- ABR p.Pro58Leu Uncertain significance Single submitter
- ABR p.Pro637Leu Uncertain significance Single submitter
- ABR p.Pro750Ser Uncertain significance Single submitter
- ABR p.Ser312Pro Uncertain significance Single submitter
- ABR p.Ser363Tyr Uncertain significance Single submitter
- ABR p.Ser436Cys Uncertain significance Single submitter
- ABR p.Ser468Thr Uncertain significance Single submitter
- ABR p.Ser499Phe Uncertain significance Single submitter
- ABR p.Ser61Arg Uncertain significance Single submitter
- ABR p.Ser710Arg Uncertain significance Single submitter
- ABR p.Ser818Leu Uncertain significance Single submitter
- ABR p.Ser844Phe Uncertain significance Single submitter
- ABR p.Thr228Ala Uncertain significance Single submitter
- ABR p.Thr653Met Uncertain significance Single submitter
- ABR p.Tyr147Cys Uncertain significance Single submitter
- ABR p.Tyr836Phe Uncertain significance Single submitter
- ABR p.Val168Ile Uncertain significance Single submitter
- ABR p.Val217Met Uncertain significance Single submitter
- ABR p.Val587Met Uncertain significance Single submitter
- ABR p.Val612Met Uncertain significance Single submitter
- ABR p.Val664Ile Uncertain significance Single submitter
- ABR p.Val687Met Uncertain significance Single submitter
- ABR p.Val71Ile Likely benign Single submitter
- ABR p.Val859Met Uncertain significance Single submitter
-
ABR p.Tyr503His
Likely benign
No assertion criteria
ABR-related disorder
All ABR variants
Benign 7
- c.2490+4C>T Multiple submitters
- p.Ala31Glu Multiple submitters
- p.Arg124Gln Multiple submitters
- p.Glu73Asp Multiple submitters
- p.Gly114Glu Multiple submitters
- p.Gly66= Multiple submitters
- p.Ter330Trp No assertion criteria ABR-related disorder
Likely benign 7
- p.Ala693= Single submitter
- p.Thr689= Single submitter
- p.Val71Ile Single submitter ⚠
- c.1305+7A>T No assertion criteria ABR-related disorder
- p.74PGRPDPEAESPRGD[1] No assertion criteria ABR-related disorder
- p.Ala104Pro No assertion criteria ABR-related disorder
- p.Tyr503His No assertion criteria ABR-related disorder ⚠
Uncertain significance 90
- p.Ala62Thr Single submitter ⚠
- p.Ala688Thr Single submitter ⚠
- p.Ala718Thr Single submitter ⚠
- p.Ala746Val Single submitter ⚠
- p.Ala829Val Single submitter ⚠
- p.Ala846Thr Single submitter ⚠
- p.Arg245Gln Single submitter ⚠
- p.Arg272His Single submitter ⚠
- p.Arg288His Single submitter ⚠
- p.Arg316Gln Single submitter ⚠
- p.Arg406His Single submitter ⚠
- p.Arg544Trp Single submitter ⚠
- p.Arg629Gln Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Arg657His Single submitter ⚠
- p.Arg665Gln Single submitter ⚠
- p.Arg736Gln Single submitter ⚠
- p.Arg762His Single submitter ⚠
- p.Asn431Ser Single submitter ⚠
- p.Asn580Ser Single submitter ⚠
- p.Asn584Ser Single submitter ⚠
- p.Asp699Asn Single submitter ⚠
- p.Asp735Tyr Single submitter ⚠
- p.Cys346Tyr Single submitter ⚠
- p.Glu364Asp Single submitter ⚠
- p.Glu390Ala Single submitter ⚠
- p.Glu677Lys Single submitter ⚠
- p.Glu777Asp Single submitter ⚠
- p.Glu777Lys Single submitter ⚠
- p.Glu77Asp Single submitter ⚠
- p.Glu784Lys Single submitter ⚠
- p.Gly182Ser Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Gly31Arg Single submitter ⚠
- p.Gly33Arg Single submitter ⚠
- p.Gly532Ser Single submitter ⚠
- p.Gly617Arg Single submitter ⚠
- p.Gly646Ser Single submitter ⚠
- p.Gly66Asp Single submitter ⚠
- p.Gly68Trp Single submitter ⚠
- p.Gly78Ala Single submitter ⚠
- p.Gly8Val Single submitter ⚠
- p.His840Gln Single submitter ⚠
- p.Ile404Val Single submitter ⚠
- p.Ile745Val Single submitter ⚠
- p.Leu12Val Single submitter ⚠
- p.Leu18Phe Single submitter ⚠
- p.Leu773Ile Single submitter ⚠
- p.Lys121Gln Single submitter ⚠
- p.Lys581Arg Single submitter ⚠
- p.Lys753Arg Single submitter ⚠
- p.Met380Ile Single submitter ⚠
- p.Met382Leu Single submitter ⚠
- p.Met708Thr Single submitter ⚠
- p.Met708Val Single submitter ⚠
- p.Met742Val Single submitter ⚠
- p.Phe357Ser Single submitter ⚠
- p.Phe725Leu Single submitter ⚠
- p.Pro367Ser Single submitter ⚠
- p.Pro41Leu Single submitter ⚠
- p.Pro500Ala Single submitter ⚠
- p.Pro58Leu Single submitter ⚠
- p.Pro600Ser Single submitter ⚠
- p.Pro637Leu Single submitter ⚠
- p.Pro750Ser Single submitter ⚠
- p.Ser312Pro Single submitter ⚠
- p.Ser363Tyr Single submitter ⚠
- p.Ser436Cys Single submitter ⚠
- p.Ser468Thr Single submitter ⚠
- p.Ser499Phe Single submitter ⚠
- p.Ser5Thr Single submitter ⚠
- p.Ser61Arg Single submitter ⚠
- p.Ser710Arg Single submitter ⚠
- p.Ser818Leu Single submitter ⚠
- p.Ser844Phe Single submitter ⚠
- p.Ser856Phe Single submitter ⚠
- p.Thr228Ala Single submitter ⚠
- p.Thr627Ser Single submitter ⚠
- p.Thr653Met Single submitter ⚠
- p.Tyr147Cys Single submitter ⚠
- p.Tyr29Cys Single submitter ⚠
- p.Tyr570Cys Single submitter ⚠
- p.Tyr836Phe Single submitter ⚠
- p.Val168Ile Single submitter ⚠
- p.Val217Met Single submitter ⚠
- p.Val587Met Single submitter ⚠
- p.Val612Met Single submitter ⚠
- p.Val664Ile Single submitter ⚠
- p.Val687Met Single submitter ⚠
- p.Val859Met Single submitter ⚠