BCL2L12 — 69 ClinVar variants
All ClinVar germline BCL2L12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
3 Likely benign · 66 Uncertain significance
Full BCL2L12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCL2L12 c.-104G>C Uncertain significance Single submitter
- BCL2L12 c.-123T>A Uncertain significance Single submitter
- BCL2L12 c.-128C>T Uncertain significance Single submitter
- BCL2L12 c.-135C>T Uncertain significance Single submitter
- BCL2L12 c.-143C>G Uncertain significance Single submitter
- BCL2L12 c.-24T>C Uncertain significance Single submitter
- BCL2L12 c.-31G>T Uncertain significance Single submitter
- BCL2L12 c.-35G>C Uncertain significance Single submitter
- BCL2L12 c.-45G>A Uncertain significance Single submitter
- BCL2L12 c.-71T>C Uncertain significance Single submitter
- BCL2L12 c.-80T>A Uncertain significance Single submitter
- BCL2L12 c.-85A>T Uncertain significance Single submitter
- BCL2L12 p.Ala131Asp Uncertain significance Single submitter
- BCL2L12 p.Ala230Ser Uncertain significance Single submitter
- BCL2L12 p.Ala32Val Uncertain significance Single submitter
- BCL2L12 p.Ala5Ser Uncertain significance Single submitter
- BCL2L12 p.Arg127Gln Uncertain significance Single submitter
- BCL2L12 p.Arg127Trp Uncertain significance Single submitter
- BCL2L12 p.Arg3Gln Uncertain significance Single submitter
- BCL2L12 p.Arg60Gln Uncertain significance Single submitter
- BCL2L12 p.Arg69Gln Uncertain significance Single submitter
- BCL2L12 p.Arg76Leu Uncertain significance Single submitter
- BCL2L12 p.Asp173Val Uncertain significance Single submitter
- BCL2L12 p.Gln100His Uncertain significance Single submitter
- BCL2L12 p.Glu41Gly Uncertain significance Single submitter
- BCL2L12 p.Gly184Arg Uncertain significance Single submitter
- BCL2L12 p.Gly24Asp Uncertain significance Single submitter
- BCL2L12 p.Gly28Arg Uncertain significance Single submitter
- BCL2L12 p.Gly28Glu Uncertain significance Single submitter
- BCL2L12 p.Gly61Glu Uncertain significance Single submitter
- BCL2L12 p.Ile237Val Uncertain significance Single submitter
- BCL2L12 p.Leu101Val Uncertain significance Single submitter
- BCL2L12 p.Leu7Arg Uncertain significance Single submitter
- BCL2L12 p.Met200Val Uncertain significance Single submitter
- BCL2L12 p.Phe14Ile Uncertain significance Single submitter
- BCL2L12 p.Phe8Val Uncertain significance Single submitter
- BCL2L12 p.Pro109Leu Uncertain significance Single submitter
- BCL2L12 p.Pro112Ser Uncertain significance Single submitter
- BCL2L12 p.Pro185Ser Uncertain significance Single submitter
- BCL2L12 p.Pro185Thr Uncertain significance Single submitter
- BCL2L12 p.Pro190Leu Uncertain significance Single submitter
- BCL2L12 p.Pro38Leu Uncertain significance Single submitter
- BCL2L12 p.Pro77Leu Uncertain significance Single submitter
- BCL2L12 p.Ser175Arg Uncertain significance Single submitter
- BCL2L12 p.Ser176Phe Uncertain significance Single submitter
- BCL2L12 p.Ser72Cys Uncertain significance Single submitter
- BCL2L12 p.Thr44Lys Uncertain significance Single submitter
- BCL2L12 p.Val155Phe Uncertain significance Single submitter
- BCL2L12 p.Val243Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- BCL2L12 p.Arg51Pro Uncertain significance Single submitter
- BCL2L12 p.Asp244Glu Uncertain significance Single submitter
- BCL2L12 p.Ile140Phe Uncertain significance Single submitter
- BCL2L12 p.Met200Ile Uncertain significance Single submitter
- BCL2L12 p.Phe14Leu Uncertain significance Single submitter
- BCL2L12 p.Phe90Leu Uncertain significance Single submitter
- BCL2L12 p.Ser119Leu Likely benign Single submitter
- BCL2L12 p.Ser217Asn Uncertain significance Single submitter
All BCL2L12 variants
Likely benign 3
- c.-126G>C Single submitter
- p.Pro68Ser Single submitter
- p.Ser119Leu Single submitter ⚠
Uncertain significance 66
- c.104T>G Single submitter
- c.107C>T Single submitter
- c.77A>T Single submitter
- c.91C>T Single submitter
- c.-104G>C Single submitter ⚠
- c.-123T>A Single submitter ⚠
- c.-128C>T Single submitter ⚠
- c.-135C>T Single submitter ⚠
- c.-143C>G Single submitter ⚠
- c.-24T>C Single submitter ⚠
- c.-31G>T Single submitter ⚠
- c.-35G>C Single submitter ⚠
- c.-45G>A Single submitter ⚠
- c.-71T>C Single submitter ⚠
- c.-80T>A Single submitter ⚠
- c.-85A>T Single submitter ⚠
- p.Ala131Asp Single submitter ⚠
- p.Ala197Asp Single submitter
- p.Ala199Asp Single submitter
- p.Ala230Ser Single submitter ⚠
- p.Ala32Val Single submitter ⚠
- p.Ala5Ser Single submitter ⚠
- p.Arg127Gln Single submitter ⚠
- p.Arg127Trp Single submitter ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg51Pro Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Arg76Leu Single submitter ⚠
- p.Asp173Val Single submitter ⚠
- p.Asp244Glu Single submitter ⚠
- p.Gln100His Single submitter ⚠
- p.Glu41Gly Single submitter ⚠
- p.Gly184Arg Single submitter ⚠
- p.Gly211Asp Single submitter
- p.Gly24Asp Single submitter ⚠
- p.Gly28Arg Single submitter ⚠
- p.Gly28Glu Single submitter ⚠
- p.Gly61Glu Single submitter ⚠
- p.Ile140Phe Single submitter ⚠
- p.Ile237Val Single submitter ⚠
- p.Leu101Val Single submitter ⚠
- p.Leu7Arg Single submitter ⚠
- p.Met200Ile Single submitter ⚠
- p.Met200Val Single submitter ⚠
- p.Phe14Ile Single submitter ⚠
- p.Phe14Leu Single submitter ⚠
- p.Phe224Leu Single submitter
- p.Phe8Val Single submitter ⚠
- p.Phe90Leu Single submitter ⚠
- p.Pro109Leu Single submitter ⚠
- p.Pro112Ser Single submitter ⚠
- p.Pro185Ser Single submitter ⚠
- p.Pro185Thr Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Pro77Leu Single submitter ⚠
- p.Ser175Arg Single submitter ⚠
- p.Ser176Phe Single submitter ⚠
- p.Ser217Arg Single submitter
- p.Ser217Asn Single submitter ⚠
- p.Ser72Cys Single submitter ⚠
- p.Thr44Lys Single submitter ⚠
- p.Tyr79Cys Single submitter
- p.Val155Phe Single submitter ⚠
- p.Val243Met Single submitter ⚠