BAALC — 22 ClinVar variants
All ClinVar germline BAALC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
2 Likely benign · 20 Uncertain significance
Full BAALC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BAALC p.Ala35Val Uncertain significance Single submitter
- BAALC p.Ala40Ser Uncertain significance Single submitter
- BAALC p.Ala41Gly Uncertain significance Single submitter
- BAALC p.Arg112Ser Uncertain significance Single submitter
- BAALC p.Arg137Gln Uncertain significance Single submitter
- BAALC p.Cys143Tyr Uncertain significance Single submitter
- BAALC p.Gly59Val Uncertain significance Single submitter
- BAALC p.Met133Thr Uncertain significance Single submitter
- BAALC p.Pro37Arg Uncertain significance Single submitter
- BAALC p.Pro42Arg Uncertain significance Single submitter
- BAALC p.Pro71Leu Uncertain significance Single submitter
- BAALC p.Pro75Thr Uncertain significance Single submitter
- BAALC p.Pro90Leu Uncertain significance Single submitter
- BAALC p.Ser92Asn Uncertain significance Single submitter
- BAALC p.Ser94Gly Uncertain significance Single submitter
- BAALC p.Thr85Ala Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All BAALC variants
Likely benign 2
- p.Met133Val Single submitter
- p.Thr81Met Single submitter
Uncertain significance 20
- p.Ala35Val Single submitter ⚠
- p.Ala40Ser Single submitter ⚠
- p.Ala41Gly Single submitter ⚠
- p.Arg112Ser Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg14Gly Single submitter ⚠
- p.Arg21Gly Single submitter ⚠
- p.Asp9Val Single submitter ⚠
- p.Cys143Tyr Single submitter ⚠
- p.Gly59Val Single submitter ⚠
- p.Met133Thr Single submitter ⚠
- p.Pro37Arg Single submitter ⚠
- p.Pro42Arg Single submitter ⚠
- p.Pro71Leu Single submitter ⚠
- p.Pro75Thr Single submitter ⚠
- p.Pro90Leu Single submitter ⚠
- p.Ser18Arg Single submitter ⚠
- p.Ser92Asn Single submitter ⚠
- p.Ser94Gly Single submitter ⚠
- p.Thr85Ala Single submitter ⚠