CATSPER4 — 72 ClinVar variants
All ClinVar germline CATSPER4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
3 Benign · 8 Likely benign · 61 Uncertain significance
Full CATSPER4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CATSPER4 p.Ala215Val Uncertain significance Single submitter
- CATSPER4 p.Ala332Ser Uncertain significance Single submitter
- CATSPER4 p.Ala349Thr Uncertain significance Single submitter
- CATSPER4 p.Ala34Thr Uncertain significance Single submitter
- CATSPER4 p.Ala449Val Uncertain significance Single submitter
- CATSPER4 p.Ala73Ser Uncertain significance Single submitter
- CATSPER4 p.Arg202Gln Uncertain significance Single submitter
- CATSPER4 p.Arg205Leu Uncertain significance Single submitter
- CATSPER4 p.Arg28Cys Uncertain significance Single submitter
- CATSPER4 p.Arg41Cys Uncertain significance Single submitter
- CATSPER4 p.Arg41His Uncertain significance Single submitter
- CATSPER4 p.Arg438Cys Uncertain significance Single submitter
- CATSPER4 p.Asn146Asp Uncertain significance Single submitter
- CATSPER4 p.Asn177Asp Uncertain significance Single submitter
- CATSPER4 p.Asp118Asn Uncertain significance Single submitter
- CATSPER4 p.Asp396His Uncertain significance Single submitter
- CATSPER4 p.Gln322Glu Uncertain significance Single submitter
- CATSPER4 p.Gln444His Uncertain significance Single submitter
- CATSPER4 p.Gln65Lys Uncertain significance Single submitter
- CATSPER4 p.Gln95His Uncertain significance Single submitter
- CATSPER4 p.Glu19Lys Uncertain significance Single submitter
- CATSPER4 p.Glu337Asp Uncertain significance Single submitter
- CATSPER4 p.Glu57Gly Uncertain significance Single submitter
- CATSPER4 p.Gly17Val Uncertain significance Single submitter
- CATSPER4 p.Gly355Asp Uncertain significance Single submitter
- CATSPER4 p.Gly54Cys Uncertain significance Single submitter
- CATSPER4 p.His50Tyr Uncertain significance Single submitter
- CATSPER4 p.His82Tyr Uncertain significance Single submitter
- CATSPER4 p.Ile173Phe Uncertain significance Single submitter
- CATSPER4 p.Ile80Val Uncertain significance Single submitter
- CATSPER4 p.Leu145Pro Uncertain significance Single submitter
- CATSPER4 p.Met195Leu Uncertain significance Single submitter
- CATSPER4 p.Met225Lys Uncertain significance Single submitter
- CATSPER4 p.Pro342Leu Uncertain significance Single submitter
- CATSPER4 p.Pro42Arg Uncertain significance Single submitter
- CATSPER4 p.Ser115Cys Uncertain significance Single submitter
- CATSPER4 p.Ser426Arg Uncertain significance Single submitter
- CATSPER4 p.Ser428Thr Uncertain significance Single submitter
- CATSPER4 p.Ser460Gly Uncertain significance Single submitter
- CATSPER4 p.Ser460Thr Uncertain significance Single submitter
- CATSPER4 p.Thr272Ile Uncertain significance Single submitter
- CATSPER4 p.Thr326Ser Uncertain significance Single submitter
- CATSPER4 p.Thr373Met Uncertain significance Single submitter
- CATSPER4 p.Thr425Pro Uncertain significance Single submitter
- CATSPER4 p.Thr431Ile Uncertain significance Single submitter
- CATSPER4 p.Thr432Met Uncertain significance Single submitter
- CATSPER4 p.Tyr53Asp Uncertain significance Single submitter
- CATSPER4 p.Val211Ala Uncertain significance Single submitter
- CATSPER4 p.Val35Gly Uncertain significance Single submitter
- CATSPER4 p.Val456Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CATSPER4 p.Ala201Val Uncertain significance Single submitter
- CATSPER4 p.Arg112Cys Uncertain significance Single submitter
- CATSPER4 p.Arg189His Uncertain significance Single submitter
- CATSPER4 p.Arg202Trp Uncertain significance Single submitter
- CATSPER4 p.Cys346Arg Uncertain significance Single submitter
- CATSPER4 p.Glu404Val Uncertain significance Single submitter
- CATSPER4 p.Ile128Thr Uncertain significance Single submitter
- CATSPER4 p.Phe125Leu Uncertain significance Single submitter
- CATSPER4 p.Pro199Thr Uncertain significance Single submitter
- CATSPER4 p.Tyr122Asn Uncertain significance Single submitter
All CATSPER4 variants
Likely benign 8
- p.Ala362Val Single submitter
- p.Ala407Ser Single submitter
- p.Ala73Thr Single submitter
- p.Arg170Gly Single submitter
- p.Arg324Gln Single submitter
- p.Gly33Arg Single submitter
- p.Ile49Thr Single submitter
- p.Thr68Met Single submitter
Uncertain significance 61
- p.Ala201Val Single submitter ⚠
- p.Ala215Val Single submitter ⚠
- p.Ala332Ser Single submitter ⚠
- p.Ala349Thr Single submitter ⚠
- p.Ala34Thr Single submitter ⚠
- p.Ala449Val Single submitter ⚠
- p.Ala73Ser Single submitter ⚠
- p.Arg112Cys Single submitter ⚠
- p.Arg189His Single submitter ⚠
- p.Arg202Gln Single submitter ⚠
- p.Arg202Trp Single submitter ⚠
- p.Arg205Leu Single submitter ⚠
- p.Arg28Cys Single submitter ⚠
- p.Arg41Cys Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Arg438Cys Single submitter ⚠
- p.Asn146Asp Single submitter ⚠
- p.Asn157Ser Single submitter
- p.Asn177Asp Single submitter ⚠
- p.Asp118Asn Single submitter ⚠
- p.Asp396His Single submitter ⚠
- p.Cys346Arg Single submitter ⚠
- p.Gln322Glu Single submitter ⚠
- p.Gln444His Single submitter ⚠
- p.Gln65Lys Single submitter ⚠
- p.Gln95His Single submitter ⚠
- p.Glu19Lys Single submitter ⚠
- p.Glu337Asp Single submitter ⚠
- p.Glu404Val Single submitter ⚠
- p.Glu57Gly Single submitter ⚠
- p.Gly17Val Single submitter ⚠
- p.Gly355Asp Single submitter ⚠
- p.Gly54Cys Single submitter ⚠
- p.His50Tyr Single submitter ⚠
- p.His82Tyr Single submitter ⚠
- p.Ile128Thr Single submitter ⚠
- p.Ile173Phe Single submitter ⚠
- p.Ile80Val Single submitter ⚠
- p.Leu145Pro Single submitter ⚠
- p.Met195Leu Single submitter ⚠
- p.Met225Lys Single submitter ⚠
- p.Phe125Leu Single submitter ⚠
- p.Pro199Thr Single submitter ⚠
- p.Pro342Leu Single submitter ⚠
- p.Pro42Arg Single submitter ⚠
- p.Ser115Cys Single submitter ⚠
- p.Ser426Arg Single submitter ⚠
- p.Ser428Thr Single submitter ⚠
- p.Ser460Gly Single submitter ⚠
- p.Ser460Thr Single submitter ⚠
- p.Thr272Ile Single submitter ⚠
- p.Thr326Ser Single submitter ⚠
- p.Thr373Met Single submitter ⚠
- p.Thr425Pro Single submitter ⚠
- p.Thr431Ile Single submitter ⚠
- p.Thr432Met Single submitter ⚠
- p.Tyr122Asn Single submitter ⚠
- p.Tyr53Asp Single submitter ⚠
- p.Val211Ala Single submitter ⚠
- p.Val35Gly Single submitter ⚠
- p.Val456Ile Single submitter ⚠