CATSPER3 — 61 ClinVar variants
All ClinVar germline CATSPER3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
1 Benign · 8 Likely benign · 52 Uncertain significance
Full CATSPER3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CATSPER3 p.Ala130Val Uncertain significance Single submitter
- CATSPER3 p.Arg11Ser Uncertain significance Single submitter
- CATSPER3 p.Arg152Leu Uncertain significance Single submitter
- CATSPER3 p.Arg239Gln Uncertain significance Single submitter
- CATSPER3 p.Arg239Trp Uncertain significance Single submitter
- CATSPER3 p.Arg245Gln Uncertain significance Single submitter
- CATSPER3 p.Arg245Trp Uncertain significance Single submitter
- CATSPER3 p.Arg280Gln Uncertain significance Single submitter
- CATSPER3 p.Arg300Gln Uncertain significance Single submitter
- CATSPER3 p.Arg5Cys Uncertain significance Single submitter
- CATSPER3 p.Arg78His Uncertain significance Single submitter
- CATSPER3 p.Asn204Ser Uncertain significance Single submitter
- CATSPER3 p.Asn212Lys Uncertain significance Single submitter
- CATSPER3 p.Asn238Ser Uncertain significance Single submitter
- CATSPER3 p.Asp206Ala Uncertain significance Single submitter
- CATSPER3 p.Asp74Asn Uncertain significance Single submitter
- CATSPER3 p.Gln301Arg Uncertain significance Single submitter
- CATSPER3 p.Gln390Glu Uncertain significance Single submitter
- CATSPER3 p.Glu285Gln Uncertain significance Single submitter
- CATSPER3 p.Glu382Lys Uncertain significance Single submitter
- CATSPER3 p.Glu87Asp Uncertain significance Single submitter
- CATSPER3 p.Gly136Ser Uncertain significance Single submitter
- CATSPER3 p.His310Tyr Uncertain significance Single submitter
- CATSPER3 p.His364Arg Uncertain significance Single submitter
- CATSPER3 p.His6Tyr Uncertain significance Single submitter
- CATSPER3 p.Ile122Val Uncertain significance Single submitter
- CATSPER3 p.Leu187Phe Uncertain significance Single submitter
- CATSPER3 p.Met100Thr Uncertain significance Single submitter
- CATSPER3 p.Met135Leu Uncertain significance Single submitter
- CATSPER3 p.Met262Val Uncertain significance Single submitter
- CATSPER3 p.Met291Ile Uncertain significance Single submitter
- CATSPER3 p.Phe29Tyr Uncertain significance Single submitter
- CATSPER3 p.Ser10Leu Uncertain significance Single submitter
- CATSPER3 p.Ser14Cys Uncertain significance Single submitter
- CATSPER3 p.Ser22Leu Uncertain significance Single submitter
- CATSPER3 p.Ser332Asn Uncertain significance Single submitter
- CATSPER3 p.Ser354Cys Uncertain significance Single submitter
- CATSPER3 p.Thr173Ala Uncertain significance Single submitter
- CATSPER3 p.Tyr175His Uncertain significance Single submitter
- CATSPER3 p.Val104Met Uncertain significance Single submitter
- CATSPER3 p.Val174Ile Uncertain significance Single submitter
- CATSPER3 p.Val296Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CATSPER3 p.Ala192Thr Uncertain significance Single submitter
- CATSPER3 p.Asp341Tyr Uncertain significance Single submitter
- CATSPER3 p.Gly113Ser Uncertain significance Single submitter
- CATSPER3 p.Gly136Cys Uncertain significance Single submitter
- CATSPER3 p.Gly200Glu Uncertain significance Single submitter
- CATSPER3 p.Leu308Arg Uncertain significance Single submitter
- CATSPER3 p.Thr230Ile Uncertain significance Single submitter
- CATSPER3 p.Val226Ala Uncertain significance Single submitter
- CATSPER3 p.Val264Met Uncertain significance Single submitter
All CATSPER3 variants
Benign 1
- p.Ile349= Single submitter
Likely benign 8
- p.Ala68Val Single submitter
- p.Asn261Ser Single submitter
- p.Gln138His Single submitter
- p.Ile167= Single submitter
- p.Leu98Phe Single submitter
- p.Ser10= Single submitter
- p.Thr21Ala Single submitter
- p.Val124Ile Single submitter
Uncertain significance 52
- p.Ala130Val Single submitter ⚠
- p.Ala169Val Single submitter
- p.Ala192Thr Single submitter ⚠
- p.Arg11Ser Single submitter ⚠
- p.Arg152Leu Single submitter ⚠
- p.Arg239Gln Single submitter ⚠
- p.Arg239Trp Single submitter ⚠
- p.Arg245Gln Single submitter ⚠
- p.Arg245Trp Single submitter ⚠
- p.Arg280Gln Single submitter ⚠
- p.Arg300Gln Single submitter ⚠
- p.Arg5Cys Single submitter ⚠
- p.Arg78His Single submitter ⚠
- p.Asn204Ser Single submitter ⚠
- p.Asn212Lys Single submitter ⚠
- p.Asn238Ser Single submitter ⚠
- p.Asp206Ala Single submitter ⚠
- p.Asp341Tyr Single submitter ⚠
- p.Asp74Asn Single submitter ⚠
- p.Gln301Arg Single submitter ⚠
- p.Gln390Glu Single submitter ⚠
- p.Glu285Gln Single submitter ⚠
- p.Glu382Lys Single submitter ⚠
- p.Glu87Asp Single submitter ⚠
- p.Gly113Ser Single submitter ⚠
- p.Gly136Cys Single submitter ⚠
- p.Gly136Ser Single submitter ⚠
- p.Gly200Glu Single submitter ⚠
- p.His310Tyr Single submitter ⚠
- p.His364Arg Single submitter ⚠
- p.His6Tyr Single submitter ⚠
- p.Ile122Val Single submitter ⚠
- p.Leu187Phe Single submitter ⚠
- p.Leu308Arg Single submitter ⚠
- p.Met100Thr Single submitter ⚠
- p.Met135Leu Single submitter ⚠
- p.Met262Val Single submitter ⚠
- p.Met291Ile Single submitter ⚠
- p.Phe29Tyr Single submitter ⚠
- p.Ser10Leu Single submitter ⚠
- p.Ser14Cys Single submitter ⚠
- p.Ser22Leu Single submitter ⚠
- p.Ser332Asn Single submitter ⚠
- p.Ser354Cys Single submitter ⚠
- p.Thr173Ala Single submitter ⚠
- p.Thr230Ile Single submitter ⚠
- p.Tyr175His Single submitter ⚠
- p.Val104Met Single submitter ⚠
- p.Val174Ile Single submitter ⚠
- p.Val226Ala Single submitter ⚠
- p.Val264Met Single submitter ⚠
- p.Val296Met Single submitter ⚠