CASD1 — 85 ClinVar variants
All ClinVar germline CASD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
1 Likely benign · 84 Uncertain significance
Full CASD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CASD1 p.Ala379Val Uncertain significance Single submitter
- CASD1 p.Ala3Thr Uncertain significance Single submitter
- CASD1 p.Ala614Thr Uncertain significance Single submitter
- CASD1 p.Ala692Thr Uncertain significance Single submitter
- CASD1 p.Ala721Val Uncertain significance Single submitter
- CASD1 p.Ala780Thr Uncertain significance Single submitter
- CASD1 p.Arg306Gln Uncertain significance Single submitter
- CASD1 p.Arg386Cys Uncertain significance Single submitter
- CASD1 p.Arg44Gly Uncertain significance Single submitter
- CASD1 p.Arg496His Uncertain significance Single submitter
- CASD1 p.Arg599Lys Uncertain significance Single submitter
- CASD1 p.Asn175Lys Uncertain significance Single submitter
- CASD1 p.Asn388Asp Uncertain significance Single submitter
- CASD1 p.Asn417Thr Uncertain significance Single submitter
- CASD1 p.Asn544Asp Uncertain significance Single submitter
- CASD1 p.Cys344Arg Uncertain significance Single submitter
- CASD1 p.Cys505Ser Uncertain significance Single submitter
- CASD1 p.Gln146Glu Uncertain significance Single submitter
- CASD1 p.Gln369Lys Uncertain significance Single submitter
- CASD1 p.Gln714His Uncertain significance Single submitter
- CASD1 p.Glu276Asp Uncertain significance Single submitter
- CASD1 p.Glu393Lys Uncertain significance Single submitter
- CASD1 p.His334Asn Uncertain significance Single submitter
- CASD1 p.His338Tyr Uncertain significance Single submitter
- CASD1 p.Ile156Leu Uncertain significance Single submitter
- CASD1 p.Ile538Val Uncertain significance Single submitter
- CASD1 p.Ile778Val Uncertain significance Single submitter
- CASD1 p.Leu311Phe Uncertain significance Single submitter
- CASD1 p.Leu322Val Uncertain significance Single submitter
- CASD1 p.Leu32Val Uncertain significance Single submitter
- CASD1 p.Leu347Val Uncertain significance Single submitter
- CASD1 p.Leu468Phe Uncertain significance Single submitter
- CASD1 p.Leu771Val Uncertain significance Single submitter
- CASD1 p.Lys296Asn Uncertain significance Single submitter
- CASD1 p.Lys576Asn Uncertain significance Single submitter
- CASD1 p.Met383Thr Uncertain significance Single submitter
- CASD1 p.Met391Val Uncertain significance Single submitter
- CASD1 p.Met735Val Uncertain significance Single submitter
- CASD1 p.Phe514Leu Uncertain significance Single submitter
- CASD1 p.Pro343Ser Uncertain significance Single submitter
- CASD1 p.Pro734Ser Uncertain significance Single submitter
- CASD1 p.Ser94Cys Uncertain significance Single submitter
- CASD1 p.Thr281Ala Uncertain significance Single submitter
- CASD1 p.Trp597Cys Uncertain significance Single submitter
- CASD1 p.Trp702Ser Uncertain significance Single submitter
- CASD1 p.Tyr213His Uncertain significance Single submitter
- CASD1 p.Val309Ala Uncertain significance Single submitter
- CASD1 p.Val523Ile Uncertain significance Single submitter
- CASD1 p.Val527Leu Uncertain significance Single submitter
- CASD1 p.Val606Ala Uncertain significance Single submitter
- CASD1 p.Val677Leu Uncertain significance Single submitter
- CASD1 p.Val740Leu Uncertain significance Single submitter
- CASD1 p.Val84Ala Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- CASD1 p.Ala180Val Uncertain significance Single submitter
- CASD1 p.Arg335His Uncertain significance Single submitter
- CASD1 p.Arg339Trp Uncertain significance Single submitter
- CASD1 p.Arg601Met Uncertain significance Single submitter
- CASD1 p.Arg623His Uncertain significance Single submitter
- CASD1 p.Asn394Lys Uncertain significance Single submitter
- CASD1 p.Asn419Asp Uncertain significance Single submitter
- CASD1 p.Asn641His Uncertain significance Single submitter
- CASD1 p.Asn668Ser Uncertain significance Single submitter
- CASD1 p.Glu119Gly Uncertain significance Single submitter
- CASD1 p.Gly9Arg Uncertain significance Single submitter
- CASD1 p.Gly9Ser Uncertain significance Single submitter
- CASD1 p.Ile107Met Uncertain significance Single submitter
- CASD1 p.Ile404Phe Uncertain significance Single submitter
- CASD1 p.Ile407Thr Uncertain significance Single submitter
- CASD1 p.Ile481Met Uncertain significance Single submitter
- CASD1 p.Ile739Thr Uncertain significance Single submitter
- CASD1 p.Ile787Met Uncertain significance Single submitter
- CASD1 p.Leu710Val Uncertain significance Single submitter
- CASD1 p.Leu772Ser Uncertain significance Single submitter
- CASD1 p.Lys662Glu Uncertain significance Single submitter
- CASD1 p.Phe320Leu Uncertain significance Single submitter
- CASD1 p.Phe548Ser Uncertain significance Single submitter
- CASD1 p.Phe743Ser Uncertain significance Single submitter
- CASD1 p.Phe781Leu Uncertain significance Single submitter
- CASD1 p.Pro211Arg Uncertain significance Single submitter
- CASD1 p.Ser277Leu Uncertain significance Single submitter
- CASD1 p.Ser584Phe Uncertain significance Single submitter
- CASD1 p.Ser650Cys Uncertain significance Single submitter
- CASD1 p.Ser650Phe Uncertain significance Single submitter
- CASD1 p.Thr398Ala Uncertain significance Single submitter
All CASD1 variants
Likely benign 1
- p.Val456= Single submitter
Uncertain significance 84
- p.Ala180Val Single submitter ⚠
- p.Ala379Val Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala614Thr Single submitter ⚠
- p.Ala692Thr Single submitter ⚠
- p.Ala721Val Single submitter ⚠
- p.Ala780Thr Single submitter ⚠
- p.Arg306Gln Single submitter ⚠
- p.Arg335His Single submitter ⚠
- p.Arg339Trp Single submitter ⚠
- p.Arg386Cys Single submitter ⚠
- p.Arg44Gly Single submitter ⚠
- p.Arg496His Single submitter ⚠
- p.Arg599Lys Single submitter ⚠
- p.Arg601Met Single submitter ⚠
- p.Arg623His Single submitter ⚠
- p.Asn175Lys Single submitter ⚠
- p.Asn388Asp Single submitter ⚠
- p.Asn394Lys Single submitter ⚠
- p.Asn417Thr Single submitter ⚠
- p.Asn419Asp Single submitter ⚠
- p.Asn544Asp Single submitter ⚠
- p.Asn641His Single submitter ⚠
- p.Asn668Ser Single submitter ⚠
- p.Cys344Arg Single submitter ⚠
- p.Cys505Ser Single submitter ⚠
- p.Gln146Glu Single submitter ⚠
- p.Gln369Lys Single submitter ⚠
- p.Gln714His Single submitter ⚠
- p.Glu119Gly Single submitter ⚠
- p.Glu276Asp Single submitter ⚠
- p.Glu393Lys Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.Gly9Ser Single submitter ⚠
- p.His334Asn Single submitter ⚠
- p.His338Tyr Single submitter ⚠
- p.Ile107Met Single submitter ⚠
- p.Ile156Leu Single submitter ⚠
- p.Ile404Phe Single submitter ⚠
- p.Ile407Thr Single submitter ⚠
- p.Ile481Met Single submitter ⚠
- p.Ile538Val Single submitter ⚠
- p.Ile739Thr Single submitter ⚠
- p.Ile778Val Single submitter ⚠
- p.Ile787Met Single submitter ⚠
- p.Leu311Phe Single submitter ⚠
- p.Leu322Val Single submitter ⚠
- p.Leu32Val Single submitter ⚠
- p.Leu347Val Single submitter ⚠
- p.Leu468Phe Single submitter ⚠
- p.Leu710Val Single submitter ⚠
- p.Leu771Val Single submitter ⚠
- p.Leu772Ser Single submitter ⚠
- p.Lys296Asn Single submitter ⚠
- p.Lys576Asn Single submitter ⚠
- p.Lys662Glu Single submitter ⚠
- p.Met383Thr Single submitter ⚠
- p.Met391Val Single submitter ⚠
- p.Met735Val Single submitter ⚠
- p.Phe320Leu Single submitter ⚠
- p.Phe514Leu Single submitter ⚠
- p.Phe548Ser Single submitter ⚠
- p.Phe743Ser Single submitter ⚠
- p.Phe781Leu Single submitter ⚠
- p.Pro211Arg Single submitter ⚠
- p.Pro343Ser Single submitter ⚠
- p.Pro734Ser Single submitter ⚠
- p.Ser277Leu Single submitter ⚠
- p.Ser584Phe Single submitter ⚠
- p.Ser650Cys Single submitter ⚠
- p.Ser650Phe Single submitter ⚠
- p.Ser94Cys Single submitter ⚠
- p.Thr281Ala Single submitter ⚠
- p.Thr398Ala Single submitter ⚠
- p.Trp597Cys Single submitter ⚠
- p.Trp702Ser Single submitter ⚠
- p.Tyr213His Single submitter ⚠
- p.Val309Ala Single submitter ⚠
- p.Val523Ile Single submitter ⚠
- p.Val527Leu Single submitter ⚠
- p.Val606Ala Single submitter ⚠
- p.Val677Leu Single submitter ⚠
- p.Val740Leu Single submitter ⚠
- p.Val84Ala Single submitter ⚠