CASP9 — 98 ClinVar variants
All ClinVar germline CASP9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
13 Benign · 15 Likely benign · 70 Uncertain significance
Full CASP9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CASP9 p.Ala141Val Uncertain significance Single submitter
- CASP9 p.Ala215Thr Uncertain significance Single submitter
- CASP9 p.Ala226Ser Uncertain significance Single submitter
- CASP9 p.Ala28Thr Uncertain significance Single submitter
- CASP9 p.Ala331Thr Uncertain significance Single submitter
- CASP9 p.Arg112Lys Uncertain significance Single submitter
- CASP9 p.Arg324Lys Uncertain significance Single submitter
- CASP9 p.Arg6Trp Uncertain significance Single submitter
- CASP9 p.Arg90Gln Uncertain significance Single submitter
- CASP9 p.Asp186His Uncertain significance Single submitter
- CASP9 p.Asp228Tyr Uncertain significance Single submitter
- CASP9 p.Gln24His Uncertain significance Single submitter
- CASP9 p.Gln291Lys Uncertain significance Single submitter
- CASP9 p.Gln399His Uncertain significance Single submitter
- CASP9 p.Glu290Gly Uncertain significance Single submitter
- CASP9 p.Glu306Lys Uncertain significance Single submitter
- CASP9 p.Gly134Ala Uncertain significance Single submitter
- CASP9 p.Gly269Arg Uncertain significance Single submitter
- CASP9 p.His162Tyr Uncertain significance Single submitter
- CASP9 p.His294Tyr Uncertain significance Single submitter
- CASP9 p.His38Tyr Uncertain significance Single submitter
- CASP9 p.Ile131Asn Uncertain significance Single submitter
- CASP9 p.Ile131Val Uncertain significance Single submitter
- CASP9 p.Ile341Thr Uncertain significance Single submitter
- CASP9 p.Ile396Asn Uncertain significance Single submitter
- CASP9 p.Leu219Pro Uncertain significance Single submitter
- CASP9 p.Leu9Pro Uncertain significance Single submitter
- CASP9 p.Pro126Ser Uncertain significance Single submitter
- CASP9 p.Pro308Ala Uncertain significance Single submitter
- CASP9 p.Pro338Ala Uncertain significance Single submitter
- CASP9 p.Ser361Cys Uncertain significance Single submitter
- CASP9 p.Ser67Asn Uncertain significance Single submitter
- CASP9 p.Thr301Ile Uncertain significance Single submitter
- CASP9 p.Trp362Cys Uncertain significance Single submitter
- CASP9 p.Val139Leu Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- CASP9 p.Thr366Asn Benign Multiple submitters
- CASP9 p.Ala220Val Uncertain significance Single submitter
- CASP9 p.Arg173His Benign Single submitter
- CASP9 p.Arg408Gln Uncertain significance Single submitter
- CASP9 p.Arg51Gln Uncertain significance Single submitter
- CASP9 p.Arg52Trp Uncertain significance Single submitter
- CASP9 p.Asp27Glu Uncertain significance Single submitter
- CASP9 p.Asp315Gly Uncertain significance Single submitter
- CASP9 p.Asp356Glu Uncertain significance Single submitter
- CASP9 p.Cys187Tyr Uncertain significance Single submitter
- CASP9 p.Gln381Arg Uncertain significance Single submitter
- CASP9 p.Glu261Lys Uncertain significance Single submitter
- CASP9 p.Glu313Ala Uncertain significance Single submitter
- CASP9 p.Glu63Asp Uncertain significance Single submitter
- CASP9 p.Gly182Ser Uncertain significance Single submitter
- CASP9 p.Gly295Ala Uncertain significance Single submitter
- CASP9 p.Leu142Phe Uncertain significance Single submitter
- CASP9 p.Leu275Met Uncertain significance Single submitter
- CASP9 p.Leu281Phe Uncertain significance Single submitter
- CASP9 p.Leu29Met Uncertain significance Single submitter
- CASP9 p.Leu383Phe Uncertain significance Single submitter
- CASP9 p.Leu411Ile Uncertain significance Single submitter
- CASP9 p.Leu85Val Uncertain significance Single submitter
- CASP9 p.Met39Ile Uncertain significance Single submitter
- CASP9 p.Met400Ile Likely benign Single submitter
- CASP9 p.Phe319Leu Uncertain significance Single submitter
- CASP9 p.Phe351Leu Uncertain significance Single submitter
- CASP9 p.Phe35Leu Uncertain significance Single submitter
- CASP9 p.Phe88Ile Uncertain significance Single submitter
- CASP9 p.Pro159Leu Uncertain significance Single submitter
- CASP9 p.Pro257Leu Uncertain significance Single submitter
- CASP9 p.Ser156Gly Uncertain significance Single submitter
- CASP9 p.Ser196Leu Likely benign Single submitter
- CASP9 p.Ser307Tyr Uncertain significance Single submitter
- CASP9 p.Ser334Arg Uncertain significance Single submitter
- CASP9 p.Ser344Phe Uncertain significance Single submitter
- CASP9 p.Ser48Phe Uncertain significance Single submitter
- CASP9 p.Thr107Ile Uncertain significance Single submitter
- CASP9 p.Val232Met Uncertain significance Single submitter
-
CASP9 p.Gln44Glu
Benign
No assertion criteria
CASP9-related disorder
All CASP9 variants
Benign 13
- c.720+9C>T Multiple submitters
- p.Ala28Val Multiple submitters
- p.Thr366Asn Multiple submitters ⚠
- p.Arg173His Single submitter ⚠
- p.Leu106Val Single submitter
- c.453+8T>C No assertion criteria CASP9-related disorder
- c.721-5T>C No assertion criteria CASP9-related disorder
- p.Gln221Arg No assertion criteria CASP9-related disorder
- p.Gln44Glu No assertion criteria CASP9-related disorder ⚠
- p.Leu8= No assertion criteria CASP9-related disorder
- p.Phe136= No assertion criteria CASP9-related disorder
- p.Ser31= No assertion criteria CASP9-related disorder
- p.Thr102Ile No assertion criteria CASP9-related disorder
Likely benign 15
- p.Asp369Asn Single submitter
- p.Gln222Arg Single submitter
- p.Gly137Ser Single submitter
- p.Gly182= Single submitter
- p.His237= Single submitter
- p.Ile185Val Single submitter
- p.Leu142Pro Single submitter
- p.Met400Ile Single submitter ⚠
- p.Ser175= Single submitter
- p.Ser196Leu Single submitter ⚠
- p.Ser307Ala Single submitter
- p.Ala220= No assertion criteria CASP9-related disorder
- p.Leu384= No assertion criteria CASP9-related disorder
- p.Met157Val No assertion criteria CASP9-related disorder
- p.Val109= No assertion criteria CASP9-related disorder
Uncertain significance 70
- p.Ala141Val Single submitter ⚠
- p.Ala215Thr Single submitter ⚠
- p.Ala220Val Single submitter ⚠
- p.Ala226Ser Single submitter ⚠
- p.Ala28Thr Single submitter ⚠
- p.Ala331Thr Single submitter ⚠
- p.Arg112Lys Single submitter ⚠
- p.Arg324Lys Single submitter ⚠
- p.Arg408Gln Single submitter ⚠
- p.Arg51Gln Single submitter ⚠
- p.Arg52Trp Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Arg90Gln Single submitter ⚠
- p.Asp186His Single submitter ⚠
- p.Asp228Tyr Single submitter ⚠
- p.Asp27Glu Single submitter ⚠
- p.Asp315Gly Single submitter ⚠
- p.Asp356Glu Single submitter ⚠
- p.Cys187Tyr Single submitter ⚠
- p.Gln24His Single submitter ⚠
- p.Gln291Lys Single submitter ⚠
- p.Gln381Arg Single submitter ⚠
- p.Gln399His Single submitter ⚠
- p.Glu261Lys Single submitter ⚠
- p.Glu290Gly Single submitter ⚠
- p.Glu306Lys Single submitter ⚠
- p.Glu313Ala Single submitter ⚠
- p.Glu63Asp Single submitter ⚠
- p.Gly134Ala Single submitter ⚠
- p.Gly182Ser Single submitter ⚠
- p.Gly269Arg Single submitter ⚠
- p.Gly295Ala Single submitter ⚠
- p.His162Tyr Single submitter ⚠
- p.His294Tyr Single submitter ⚠
- p.His38Tyr Single submitter ⚠
- p.Ile131Asn Single submitter ⚠
- p.Ile131Val Single submitter ⚠
- p.Ile341Thr Single submitter ⚠
- p.Ile396Asn Single submitter ⚠
- p.Leu142Phe Single submitter ⚠
- p.Leu219Pro Single submitter ⚠
- p.Leu275Met Single submitter ⚠
- p.Leu281Phe Single submitter ⚠
- p.Leu29Met Single submitter ⚠
- p.Leu383Phe Single submitter ⚠
- p.Leu411Ile Single submitter ⚠
- p.Leu85Val Single submitter ⚠
- p.Leu9Pro Single submitter ⚠
- p.Met39Ile Single submitter ⚠
- p.Phe319Leu Single submitter ⚠
- p.Phe351Leu Single submitter ⚠
- p.Phe35Leu Single submitter ⚠
- p.Phe88Ile Single submitter ⚠
- p.Pro126Ser Single submitter ⚠
- p.Pro159Leu Single submitter ⚠
- p.Pro257Leu Single submitter ⚠
- p.Pro308Ala Single submitter ⚠
- p.Pro338Ala Single submitter ⚠
- p.Ser156Gly Single submitter ⚠
- p.Ser307Tyr Single submitter ⚠
- p.Ser334Arg Single submitter ⚠
- p.Ser344Phe Single submitter ⚠
- p.Ser361Cys Single submitter ⚠
- p.Ser48Phe Single submitter ⚠
- p.Ser67Asn Single submitter ⚠
- p.Thr107Ile Single submitter ⚠
- p.Thr301Ile Single submitter ⚠
- p.Trp362Cys Single submitter ⚠
- p.Val139Leu Single submitter ⚠
- p.Val232Met Single submitter ⚠