CASS4 — 109 ClinVar variants
All ClinVar germline CASS4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
1 Conflicting · 3 Benign · 16 Likely benign · 89 Uncertain significance
Full CASS4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CASS4 p.Ala10Val Uncertain significance Single submitter
- CASS4 p.Ala16Asp Uncertain significance Single submitter
- CASS4 p.Ala271Thr Uncertain significance Single submitter
- CASS4 p.Ala377Val Uncertain significance Single submitter
- CASS4 p.Ala456Thr Uncertain significance Single submitter
- CASS4 p.Ala689Thr Uncertain significance Single submitter
- CASS4 p.Ala771Thr Uncertain significance Single submitter
- CASS4 p.Arg268Lys Uncertain significance Single submitter
- CASS4 p.Arg318Gly Uncertain significance Single submitter
- CASS4 p.Arg528Gly Uncertain significance Single submitter
- CASS4 p.Arg528His Uncertain significance Single submitter
- CASS4 p.Arg632Lys Uncertain significance Single submitter
- CASS4 p.Arg645Ser Uncertain significance Single submitter
- CASS4 p.Arg67His Uncertain significance Single submitter
- CASS4 p.Arg730Gly Uncertain significance Single submitter
- CASS4 p.Asn295Tyr Uncertain significance Single submitter
- CASS4 p.Asp25Glu Uncertain significance Single submitter
- CASS4 p.Asp404Glu Uncertain significance Single submitter
- CASS4 p.Asp438Glu Uncertain significance Single submitter
- CASS4 p.Asp470Glu Uncertain significance Single submitter
- CASS4 p.Asp77Asn Uncertain significance Single submitter
- CASS4 p.Gln293Arg Uncertain significance Single submitter
- CASS4 p.Gln301Lys Uncertain significance Single submitter
- CASS4 p.Gln342Lys Uncertain significance Single submitter
- CASS4 p.Gln705Arg Uncertain significance Single submitter
- CASS4 p.Glu266Ala Uncertain significance Single submitter
- CASS4 p.Glu29Lys Uncertain significance Single submitter
- CASS4 p.Glu620Lys Uncertain significance Single submitter
- CASS4 p.Gly251Arg Uncertain significance Single submitter
- CASS4 p.Gly50Arg Uncertain significance Single submitter
- CASS4 p.His44Asp Uncertain significance Single submitter
- CASS4 p.Ile221Val Uncertain significance Single submitter
- CASS4 p.Ile40Val Uncertain significance Single submitter
- CASS4 p.Leu460Pro Uncertain significance Single submitter
- CASS4 p.Lys302Arg Uncertain significance Single submitter
- CASS4 p.Lys773Arg Uncertain significance Single submitter
- CASS4 p.Met445Ile Uncertain significance Single submitter
- CASS4 p.Met568Arg Uncertain significance Single submitter
- CASS4 p.Met711Val Uncertain significance Single submitter
- CASS4 p.Pro209Arg Uncertain significance Single submitter
- CASS4 p.Pro237Thr Uncertain significance Single submitter
- CASS4 p.Pro391Ala Uncertain significance Single submitter
- CASS4 p.Pro395Arg Uncertain significance Single submitter
- CASS4 p.Pro615Ser Uncertain significance Single submitter
- CASS4 p.Pro82Gln Uncertain significance Single submitter
- CASS4 p.Ser200Thr Uncertain significance Single submitter
- CASS4 p.Ser277Pro Uncertain significance Single submitter
- CASS4 p.Ser357Leu Uncertain significance Single submitter
- CASS4 p.Ser358Gly Uncertain significance Single submitter
- CASS4 p.Ser510Asn Uncertain significance Single submitter
- CASS4 p.Ser637Thr Uncertain significance Single submitter
- CASS4 p.Ser697Arg Uncertain significance Single submitter
- CASS4 p.Thr102Pro Uncertain significance Single submitter
- CASS4 p.Thr246Ile Uncertain significance Single submitter
- CASS4 p.Thr278Ala Uncertain significance Single submitter
- CASS4 p.Thr388Ile Uncertain significance Single submitter
- CASS4 p.Thr626Asn Uncertain significance Single submitter
- CASS4 p.Thr704Ala Uncertain significance Single submitter
- CASS4 p.Tyr471His Uncertain significance Single submitter
- CASS4 p.Val340Leu Uncertain significance Single submitter
- CASS4 p.Val452Ile Uncertain significance Single submitter
- CASS4 p.Val580Ile Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- CASS4 p.Ser426Leu Benign Multiple submitters
- CASS4 p.Ala682Val Uncertain significance Single submitter
- CASS4 p.Ala763Thr Uncertain significance Single submitter
- CASS4 p.Arg105Cys Likely benign Single submitter
- CASS4 p.Arg469Gln Uncertain significance Single submitter
- CASS4 p.Arg528Cys Uncertain significance Single submitter
- CASS4 p.Arg528Leu Conflicting Single submitter
- CASS4 p.Arg567Gln Uncertain significance Single submitter
- CASS4 p.Arg567Trp Uncertain significance Single submitter
- CASS4 p.Arg590Trp Uncertain significance Single submitter
- CASS4 p.Arg730Cys Uncertain significance Single submitter
- CASS4 p.Arg779Trp Uncertain significance Single submitter
- CASS4 p.Asp436Asn Uncertain significance Single submitter
- CASS4 p.Asp558Glu Uncertain significance Single submitter
- CASS4 p.Glu723Gln Uncertain significance Single submitter
- CASS4 p.Leu656Phe Uncertain significance Single submitter
- CASS4 p.Pro104Arg Uncertain significance Single submitter
- CASS4 p.Pro167Leu Uncertain significance Single submitter
- CASS4 p.Pro170Ala Uncertain significance Single submitter
- CASS4 p.Pro353Ala Uncertain significance Single submitter
- CASS4 p.Ser118Asn Uncertain significance Single submitter
- CASS4 p.Ser276Gly Likely benign Single submitter
- CASS4 p.Ser360Cys Uncertain significance Single submitter
- CASS4 p.Ser411Cys Likely benign Single submitter
- CASS4 p.Ser412Ala Uncertain significance Single submitter
- CASS4 p.Ser425Phe Uncertain significance Single submitter
- CASS4 p.Ser742Cys Uncertain significance Single submitter
- CASS4 p.Thr258Met Uncertain significance Single submitter
- CASS4 p.Thr356Met Likely benign Single submitter
- CASS4 p.Thr72Met Uncertain significance Single submitter
- CASS4 p.Tyr98Cys Uncertain significance Single submitter
- CASS4 p.Val184Met Uncertain significance Single submitter
- CASS4 p.Val74Phe Uncertain significance Single submitter
All CASS4 variants
Conflicting classifications of pathogenicity 1
- p.Arg528Leu Single submitter ⚠
Benign 3
- p.Arg491Lys Multiple submitters
- p.Leu71= Multiple submitters
- p.Ser426Leu Multiple submitters ⚠
Likely benign 16
- p.Ala120Val Single submitter
- p.Ala264Val Single submitter
- p.Ala377Thr Single submitter
- p.Arg105Cys Single submitter ⚠
- p.Arg590Gln Single submitter
- p.Asn281Ser Single submitter
- p.Ile221Thr Single submitter
- p.Ile6Val Single submitter
- p.Met711Thr Single submitter
- p.Phe133Leu Single submitter
- p.Pro134= Single submitter
- p.Pro602= Single submitter
- p.Ser276Gly Single submitter ⚠
- p.Ser411Cys Single submitter ⚠
- p.Thr356Met Single submitter ⚠
- p.Val255Ile Single submitter
Uncertain significance 89
- p.Ala10Val Single submitter ⚠
- p.Ala16Asp Single submitter ⚠
- p.Ala271Thr Single submitter ⚠
- p.Ala377Val Single submitter ⚠
- p.Ala456Thr Single submitter ⚠
- p.Ala682Val Single submitter ⚠
- p.Ala689Thr Single submitter ⚠
- p.Ala763Thr Single submitter ⚠
- p.Ala771Thr Single submitter ⚠
- p.Arg268Lys Single submitter ⚠
- p.Arg318Gly Single submitter ⚠
- p.Arg469Gln Single submitter ⚠
- p.Arg528Cys Single submitter ⚠
- p.Arg528Gly Single submitter ⚠
- p.Arg528His Single submitter ⚠
- p.Arg567Gln Single submitter ⚠
- p.Arg567Trp Single submitter ⚠
- p.Arg590Trp Single submitter ⚠
- p.Arg632Lys Single submitter ⚠
- p.Arg645Ser Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Arg730Cys Single submitter ⚠
- p.Arg730Gly Single submitter ⚠
- p.Arg779Trp Single submitter ⚠
- p.Asn295Tyr Single submitter ⚠
- p.Asp25Glu Single submitter ⚠
- p.Asp404Glu Single submitter ⚠
- p.Asp436Asn Single submitter ⚠
- p.Asp438Glu Single submitter ⚠
- p.Asp470Glu Single submitter ⚠
- p.Asp558Glu Single submitter ⚠
- p.Asp77Asn Single submitter ⚠
- p.Gln293Arg Single submitter ⚠
- p.Gln301Lys Single submitter ⚠
- p.Gln342Lys Single submitter ⚠
- p.Gln705Arg Single submitter ⚠
- p.Glu266Ala Single submitter ⚠
- p.Glu29Lys Single submitter ⚠
- p.Glu620Lys Single submitter ⚠
- p.Glu723Gln Single submitter ⚠
- p.Gly251Arg Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.His44Asp Single submitter ⚠
- p.Ile221Val Single submitter ⚠
- p.Ile40Val Single submitter ⚠
- p.Leu460Pro Single submitter ⚠
- p.Leu656Phe Single submitter ⚠
- p.Lys302Arg Single submitter ⚠
- p.Lys773Arg Single submitter ⚠
- p.Met445Ile Single submitter ⚠
- p.Met568Arg Single submitter ⚠
- p.Met711Val Single submitter ⚠
- p.Pro104Arg Single submitter ⚠
- p.Pro167Leu Single submitter ⚠
- p.Pro170Ala Single submitter ⚠
- p.Pro209Arg Single submitter ⚠
- p.Pro237Thr Single submitter ⚠
- p.Pro353Ala Single submitter ⚠
- p.Pro391Ala Single submitter ⚠
- p.Pro395Arg Single submitter ⚠
- p.Pro615Ser Single submitter ⚠
- p.Pro82Gln Single submitter ⚠
- p.Ser118Asn Single submitter ⚠
- p.Ser200Thr Single submitter ⚠
- p.Ser277Pro Single submitter ⚠
- p.Ser357Leu Single submitter ⚠
- p.Ser358Gly Single submitter ⚠
- p.Ser360Cys Single submitter ⚠
- p.Ser412Ala Single submitter ⚠
- p.Ser425Phe Single submitter ⚠
- p.Ser510Asn Single submitter ⚠
- p.Ser637Thr Single submitter ⚠
- p.Ser697Arg Single submitter ⚠
- p.Ser742Cys Single submitter ⚠
- p.Thr102Pro Single submitter ⚠
- p.Thr246Ile Single submitter ⚠
- p.Thr258Met Single submitter ⚠
- p.Thr278Ala Single submitter ⚠
- p.Thr388Ile Single submitter ⚠
- p.Thr626Asn Single submitter ⚠
- p.Thr704Ala Single submitter ⚠
- p.Thr72Met Single submitter ⚠
- p.Tyr471His Single submitter ⚠
- p.Tyr98Cys Single submitter ⚠
- p.Val184Met Single submitter ⚠
- p.Val340Leu Single submitter ⚠
- p.Val452Ile Single submitter ⚠
- p.Val580Ile Single submitter ⚠
- p.Val74Phe Single submitter ⚠