CAB39L — 42 ClinVar variants
All ClinVar germline CAB39L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
2 Likely benign · 40 Uncertain significance
Full CAB39L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAB39L p.Ala48Gly Uncertain significance Single submitter
- CAB39L p.Arg112Trp Uncertain significance Single submitter
- CAB39L p.Arg141Cys Uncertain significance Single submitter
- CAB39L p.Arg141His Uncertain significance Single submitter
- CAB39L p.Asn13Ser Uncertain significance Single submitter
- CAB39L p.Asp96Tyr Uncertain significance Single submitter
- CAB39L p.Gln309His Uncertain significance Single submitter
- CAB39L p.Gln87Arg Uncertain significance Single submitter
- CAB39L p.His11Asn Uncertain significance Single submitter
- CAB39L p.Ile244Val Uncertain significance Single submitter
- CAB39L p.Ile27Val Uncertain significance Single submitter
- CAB39L p.Leu237Val Uncertain significance Single submitter
- CAB39L p.Leu78Arg Uncertain significance Single submitter
- CAB39L p.Leu78Val Uncertain significance Single submitter
- CAB39L p.Lys195Glu Uncertain significance Single submitter
- CAB39L p.Lys215Arg Uncertain significance Single submitter
- CAB39L p.Pro62Leu Uncertain significance Single submitter
- CAB39L p.Ser39Leu Uncertain significance Single submitter
- CAB39L p.Thr224Ala Uncertain significance Single submitter
- CAB39L p.Tyr324Cys Uncertain significance Single submitter
- CAB39L p.Val80Leu Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CAB39L p.Arg151Gln Uncertain significance Single submitter
- CAB39L p.Asp85Tyr Uncertain significance Single submitter
- CAB39L p.His122Asp Uncertain significance Single submitter
- CAB39L p.Ile119Val Uncertain significance Single submitter
- CAB39L p.Ile302Thr Uncertain significance Single submitter
- CAB39L p.Ile52Ser Uncertain significance Single submitter
- CAB39L p.Ile83Leu Uncertain significance Single submitter
- CAB39L p.Leu332Val Uncertain significance Single submitter
- CAB39L p.Lys247Glu Uncertain significance Single submitter
- CAB39L p.Met128Ile Uncertain significance Single submitter
- CAB39L p.Met258Leu Uncertain significance Single submitter
- CAB39L p.Met258Val Uncertain significance Single submitter
- CAB39L p.Ser113Ile Uncertain significance Single submitter
- CAB39L p.Thr111Ala Uncertain significance Single submitter
- CAB39L p.Thr335Met Uncertain significance Single submitter
- CAB39L p.Thr98Ile Uncertain significance Single submitter
- CAB39L p.Val291Met Uncertain significance Single submitter
- CAB39L p.Val42Ala Uncertain significance Single submitter
- CAB39L p.Val42Leu Uncertain significance Single submitter
All CAB39L variants
Likely benign 2
- p.Ala319Thr Single submitter
- p.Gly132= Single submitter
Uncertain significance 40
- p.Ala48Gly Single submitter ⚠
- p.Arg112Trp Single submitter ⚠
- p.Arg141Cys Single submitter ⚠
- p.Arg141His Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Asn13Ser Single submitter ⚠
- p.Asp85Tyr Single submitter ⚠
- p.Asp96Tyr Single submitter ⚠
- p.Gln309His Single submitter ⚠
- p.Gln87Arg Single submitter ⚠
- p.His11Asn Single submitter ⚠
- p.His122Asp Single submitter ⚠
- p.Ile119Val Single submitter ⚠
- p.Ile244Val Single submitter ⚠
- p.Ile27Val Single submitter ⚠
- p.Ile302Thr Single submitter ⚠
- p.Ile52Ser Single submitter ⚠
- p.Ile83Leu Single submitter ⚠
- p.Leu237Val Single submitter ⚠
- p.Leu332Val Single submitter ⚠
- p.Leu78Arg Single submitter ⚠
- p.Leu78Val Single submitter ⚠
- p.Lys195Glu Single submitter ⚠
- p.Lys215Arg Single submitter ⚠
- p.Lys247Glu Single submitter ⚠
- p.Met128Ile Single submitter ⚠
- p.Met258Leu Single submitter ⚠
- p.Met258Val Single submitter ⚠
- p.Pro62Leu Single submitter ⚠
- p.Ser113Ile Single submitter ⚠
- p.Ser39Leu Single submitter ⚠
- p.Thr111Ala Single submitter ⚠
- p.Thr224Ala Single submitter ⚠
- p.Thr335Met Single submitter ⚠
- p.Thr98Ile Single submitter ⚠
- p.Tyr324Cys Single submitter ⚠
- p.Val291Met Single submitter ⚠
- p.Val42Ala Single submitter ⚠
- p.Val42Leu Single submitter ⚠
- p.Val80Leu Single submitter ⚠