ABITRAM — 27 ClinVar variants
All ClinVar germline ABITRAM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Likely benign · 26 Uncertain significance
Full ABITRAM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABITRAM p.Gly141Val Uncertain significance Single submitter
- ABITRAM p.Gly88Glu Uncertain significance Single submitter
- ABITRAM p.His54Arg Uncertain significance Single submitter
- ABITRAM p.Ile143Thr Uncertain significance Single submitter
- ABITRAM p.Ile70Met Uncertain significance Single submitter
- ABITRAM p.Leu50Ser Uncertain significance Single submitter
- ABITRAM p.Ser112Cys Uncertain significance Single submitter
- ABITRAM p.Thr49Arg Uncertain significance Single submitter
- ABITRAM p.Trp23Cys Uncertain significance Single submitter
- ABITRAM p.Tyr166His Uncertain significance Single submitter
- ABITRAM p.Val12Glu Uncertain significance Single submitter
- ABITRAM p.Val145Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- ABITRAM p.Ala2Val Uncertain significance Single submitter
- ABITRAM p.Arg173His Uncertain significance Single submitter
- ABITRAM p.Arg22His Uncertain significance Single submitter
- ABITRAM p.Arg87Gln Uncertain significance Single submitter
- ABITRAM p.Arg87Trp Uncertain significance Single submitter
- ABITRAM p.Gln163Arg Uncertain significance Single submitter
- ABITRAM p.Gly106Asp Uncertain significance Single submitter
- ABITRAM p.Leu57Phe Uncertain significance Single submitter
- ABITRAM p.Lys136Gln Uncertain significance Single submitter
- ABITRAM p.Lys31Gln Uncertain significance Single submitter
- ABITRAM p.Ser65Arg Uncertain significance Single submitter
- ABITRAM p.Thr110Asn Uncertain significance Single submitter
- ABITRAM p.Thr157Ala Uncertain significance Single submitter
- ABITRAM p.Thr180Met Uncertain significance Single submitter
All ABITRAM variants
Likely benign 1
- p.Glu6Ala Single submitter
Uncertain significance 26
- p.Ala2Val Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg22His Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Gln163Arg Single submitter ⚠
- p.Gly106Asp Single submitter ⚠
- p.Gly141Val Single submitter ⚠
- p.Gly88Glu Single submitter ⚠
- p.His54Arg Single submitter ⚠
- p.Ile143Thr Single submitter ⚠
- p.Ile70Met Single submitter ⚠
- p.Leu50Ser Single submitter ⚠
- p.Leu57Phe Single submitter ⚠
- p.Lys136Gln Single submitter ⚠
- p.Lys31Gln Single submitter ⚠
- p.Ser112Cys Single submitter ⚠
- p.Ser65Arg Single submitter ⚠
- p.Thr110Asn Single submitter ⚠
- p.Thr157Ala Single submitter ⚠
- p.Thr180Met Single submitter ⚠
- p.Thr49Arg Single submitter ⚠
- p.Trp23Cys Single submitter ⚠
- p.Tyr166His Single submitter ⚠
- p.Val12Glu Single submitter ⚠
- p.Val145Ile Single submitter ⚠