BABAM1 — 37 ClinVar variants
All ClinVar germline BABAM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Benign · 1 Likely benign · 35 Uncertain significance
Full BABAM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BABAM1 p.Ala283Thr Uncertain significance Single submitter
- BABAM1 p.Arg212His Uncertain significance Single submitter
- BABAM1 p.Arg212Pro Uncertain significance Single submitter
- BABAM1 p.Arg85Gln Uncertain significance Single submitter
- BABAM1 p.Asn122Ser Uncertain significance Single submitter
- BABAM1 p.Asn201Lys Uncertain significance Single submitter
- BABAM1 p.Asp263Asn Uncertain significance Single submitter
- BABAM1 p.Gln225Arg Uncertain significance Single submitter
- BABAM1 p.Gln225Leu Uncertain significance Single submitter
- BABAM1 p.Gly158Val Uncertain significance Single submitter
- BABAM1 p.Gly69Ser Uncertain significance Single submitter
- BABAM1 p.Leu159Val Uncertain significance Single submitter
- BABAM1 p.Met264Thr Uncertain significance Single submitter
- BABAM1 p.Phe187Cys Uncertain significance Single submitter
- BABAM1 p.Pro77Leu Uncertain significance Single submitter
- BABAM1 p.Pro9Arg Uncertain significance Single submitter
- BABAM1 p.Ser49Thr Uncertain significance Single submitter
- BABAM1 p.Ser57Gly Uncertain significance Single submitter
- BABAM1 p.Ser57Thr Uncertain significance Single submitter
- BABAM1 p.Thr65Ile Uncertain significance Single submitter
- BABAM1 p.Tyr278Cys Uncertain significance Single submitter
- BABAM1 p.Val202Gly Uncertain significance Single submitter
- BABAM1 p.Val246Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- BABAM1 p.Arg219Cys Uncertain significance Single submitter
- BABAM1 p.Arg26Cys Uncertain significance Single submitter
- BABAM1 p.Asp263His Uncertain significance Single submitter
- BABAM1 p.Gln191Pro Uncertain significance Single submitter
- BABAM1 p.Glu11Lys Uncertain significance Single submitter
- BABAM1 p.Glu256Lys Uncertain significance Single submitter
- BABAM1 p.Glu257Lys Uncertain significance Single submitter
- BABAM1 p.Gly185Glu Uncertain significance Single submitter
- BABAM1 p.Ile205Thr Uncertain significance Single submitter
- BABAM1 p.Lys297Asn Uncertain significance Single submitter
- BABAM1 p.Pro287Leu Uncertain significance Single submitter
- BABAM1 p.Ser116Cys Uncertain significance Single submitter
All BABAM1 variants
Benign 1
- c.-13-45C>T Multiple submitters
Likely benign 1
- p.Ser72= Single submitter
Uncertain significance 35
- p.Ala283Thr Single submitter ⚠
- p.Arg212His Single submitter ⚠
- p.Arg212Pro Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg26Cys Single submitter ⚠
- p.Arg85Gln Single submitter ⚠
- p.Asn122Ser Single submitter ⚠
- p.Asn201Lys Single submitter ⚠
- p.Asp263Asn Single submitter ⚠
- p.Asp263His Single submitter ⚠
- p.Gln191Pro Single submitter ⚠
- p.Gln225Arg Single submitter ⚠
- p.Gln225Leu Single submitter ⚠
- p.Glu11Lys Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu257Lys Single submitter ⚠
- p.Gly158Val Single submitter ⚠
- p.Gly185Glu Single submitter ⚠
- p.Gly69Ser Single submitter ⚠
- p.Ile205Thr Single submitter ⚠
- p.Leu159Val Single submitter ⚠
- p.Lys297Asn Single submitter ⚠
- p.Met264Thr Single submitter ⚠
- p.Phe187Cys Single submitter ⚠
- p.Pro287Leu Single submitter ⚠
- p.Pro77Leu Single submitter ⚠
- p.Pro9Arg Single submitter ⚠
- p.Ser116Cys Single submitter ⚠
- p.Ser49Thr Single submitter ⚠
- p.Ser57Gly Single submitter ⚠
- p.Ser57Thr Single submitter ⚠
- p.Thr65Ile Single submitter ⚠
- p.Tyr278Cys Single submitter ⚠
- p.Val202Gly Single submitter ⚠
- p.Val246Ile Single submitter ⚠