CASTOR1 — 44 ClinVar variants
All ClinVar germline CASTOR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
1 Likely benign · 43 Uncertain significance
Full CASTOR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CASTOR1 p.Ala196Thr Uncertain significance Single submitter
- CASTOR1 p.Ala198Thr Uncertain significance Single submitter
- CASTOR1 p.Ala92Thr Uncertain significance Single submitter
- CASTOR1 p.Arg322Gln Uncertain significance Single submitter
- CASTOR1 p.Arg99His Uncertain significance Single submitter
- CASTOR1 p.Asp121Tyr Uncertain significance Single submitter
- CASTOR1 p.Asp142Asn Uncertain significance Single submitter
- CASTOR1 p.Asp157Val Uncertain significance Single submitter
- CASTOR1 p.Asp311Asn Uncertain significance Single submitter
- CASTOR1 p.Gln246Arg Uncertain significance Single submitter
- CASTOR1 p.Glu318Gln Uncertain significance Single submitter
- CASTOR1 p.Gly169Glu Uncertain significance Single submitter
- CASTOR1 p.Gly314Ser Uncertain significance Single submitter
- CASTOR1 p.His168Arg Uncertain significance Single submitter
- CASTOR1 p.Pro164Ala Uncertain significance Single submitter
- CASTOR1 p.Pro220Ala Uncertain significance Single submitter
- CASTOR1 p.Pro272Ser Uncertain significance Single submitter
- CASTOR1 p.Ser116Cys Uncertain significance Single submitter
- CASTOR1 p.Ser37Thr Uncertain significance Single submitter
- CASTOR1 p.Thr120Met Uncertain significance Single submitter
- CASTOR1 p.Thr193Met Uncertain significance Single submitter
- CASTOR1 p.Thr300Ile Uncertain significance Single submitter
- CASTOR1 p.Thr52Met Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CASTOR1 p.Ala87Val Uncertain significance Single submitter
- CASTOR1 p.Ala98Thr Uncertain significance Single submitter
- CASTOR1 p.Arg145Cys Uncertain significance Single submitter
- CASTOR1 p.Arg267His Uncertain significance Single submitter
- CASTOR1 p.Arg35Cys Uncertain significance Single submitter
- CASTOR1 p.Arg99Cys Uncertain significance Single submitter
- CASTOR1 p.Gln90Lys Uncertain significance Single submitter
- CASTOR1 p.Glu310Lys Uncertain significance Single submitter
- CASTOR1 p.Glu318Lys Uncertain significance Single submitter
- CASTOR1 p.Leu253Phe Uncertain significance Single submitter
- CASTOR1 p.Ser179Asn Uncertain significance Single submitter
- CASTOR1 p.Ser208Leu Uncertain significance Single submitter
- CASTOR1 p.Thr136Met Uncertain significance Single submitter
- CASTOR1 p.Thr155Met Uncertain significance Single submitter
- CASTOR1 p.Thr173Met Uncertain significance Single submitter
- CASTOR1 p.Val132Met Uncertain significance Single submitter
- CASTOR1 p.Val154Leu Uncertain significance Single submitter
- CASTOR1 p.Val266Met Uncertain significance Single submitter
- CASTOR1 p.Val316Ile Uncertain significance Single submitter
- CASTOR1 p.Val81Leu Uncertain significance Single submitter
All CASTOR1 variants
Likely benign 1
- p.Arg35His Single submitter
Uncertain significance 43
- p.Ala196Thr Single submitter ⚠
- p.Ala198Thr Single submitter ⚠
- p.Ala87Val Single submitter ⚠
- p.Ala92Thr Single submitter ⚠
- p.Ala98Thr Single submitter ⚠
- p.Arg145Cys Single submitter ⚠
- p.Arg267His Single submitter ⚠
- p.Arg322Gln Single submitter ⚠
- p.Arg35Cys Single submitter ⚠
- p.Arg99Cys Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Asp121Tyr Single submitter ⚠
- p.Asp142Asn Single submitter ⚠
- p.Asp157Val Single submitter ⚠
- p.Asp311Asn Single submitter ⚠
- p.Gln246Arg Single submitter ⚠
- p.Gln90Lys Single submitter ⚠
- p.Glu310Lys Single submitter ⚠
- p.Glu318Gln Single submitter ⚠
- p.Glu318Lys Single submitter ⚠
- p.Gly169Glu Single submitter ⚠
- p.Gly314Ser Single submitter ⚠
- p.His168Arg Single submitter ⚠
- p.Leu253Phe Single submitter ⚠
- p.Pro164Ala Single submitter ⚠
- p.Pro220Ala Single submitter ⚠
- p.Pro272Ser Single submitter ⚠
- p.Ser116Cys Single submitter ⚠
- p.Ser179Asn Single submitter ⚠
- p.Ser208Leu Single submitter ⚠
- p.Ser37Thr Single submitter ⚠
- p.Thr120Met Single submitter ⚠
- p.Thr136Met Single submitter ⚠
- p.Thr155Met Single submitter ⚠
- p.Thr173Met Single submitter ⚠
- p.Thr193Met Single submitter ⚠
- p.Thr300Ile Single submitter ⚠
- p.Thr52Met Single submitter ⚠
- p.Val132Met Single submitter ⚠
- p.Val154Leu Single submitter ⚠
- p.Val266Met Single submitter ⚠
- p.Val316Ile Single submitter ⚠
- p.Val81Leu Single submitter ⚠