CATSPER2 — 123 ClinVar variants
All ClinVar germline CATSPER2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →
1 Pathogenic · 2 Conflicting · 17 Benign · 15 Likely benign · 88 Uncertain significance
Full CATSPER2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 89
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CATSPER2 p.Ala356Val Uncertain significance Single submitter
- CATSPER2 p.Arg19His Uncertain significance Single submitter
- CATSPER2 p.Arg333Leu Uncertain significance Single submitter
- CATSPER2 p.Arg467Cys Uncertain significance Single submitter
- CATSPER2 p.Arg66His Uncertain significance Single submitter
- CATSPER2 p.Arg90Leu Uncertain significance Single submitter
- CATSPER2 p.Asp181Gly Uncertain significance Single submitter
- CATSPER2 p.Asp392Ala Uncertain significance Single submitter
- CATSPER2 p.Cys107Phe Uncertain significance Single submitter
- CATSPER2 p.Gln11Arg Uncertain significance Single submitter
- CATSPER2 p.Gln202Arg Uncertain significance Single submitter
- CATSPER2 p.Gln228Lys Uncertain significance Single submitter
- CATSPER2 p.Gln6Lys Uncertain significance Single submitter
- CATSPER2 p.Glu391Lys Uncertain significance Single submitter
- CATSPER2 p.Glu46Asp Uncertain significance Single submitter
- CATSPER2 p.Glu8Val Uncertain significance Single submitter
- CATSPER2 p.Gly466Ala Uncertain significance Single submitter
- CATSPER2 p.Ile115Met Uncertain significance Single submitter
- CATSPER2 p.Ile23Met Uncertain significance Single submitter
- CATSPER2 p.Ile29Thr Uncertain significance Single submitter
- CATSPER2 p.Ile424Val Uncertain significance Single submitter
- CATSPER2 p.Ile44Val Uncertain significance Single submitter
- CATSPER2 p.Ile465Val Uncertain significance Single submitter
- CATSPER2 p.Ile74Met Uncertain significance Single submitter
- CATSPER2 p.Leu189Pro Uncertain significance Single submitter
- CATSPER2 p.Leu302Val Uncertain significance Single submitter
- CATSPER2 p.Leu468Ser Uncertain significance Single submitter
- CATSPER2 p.Met186Val Uncertain significance Single submitter
- CATSPER2 p.Met246Ile Uncertain significance Single submitter
- CATSPER2 p.Met484Ile Uncertain significance Single submitter
- CATSPER2 p.Pro13Ser Uncertain significance Single submitter
- CATSPER2 p.Pro141Ser Uncertain significance Single submitter
- CATSPER2 p.Pro479Leu Uncertain significance Single submitter
- CATSPER2 p.Pro96Leu Uncertain significance Single submitter
- CATSPER2 p.Pro96Ser Uncertain significance Single submitter
- CATSPER2 p.Ser240Arg Uncertain significance Single submitter
- CATSPER2 p.Ser264Leu Uncertain significance Single submitter
- CATSPER2 p.Ser281Ala Uncertain significance Single submitter
- CATSPER2 p.Ser36Asn Uncertain significance Single submitter
- CATSPER2 p.Ser393Gly Uncertain significance Single submitter
- CATSPER2 p.Ser407Pro Uncertain significance Single submitter
- CATSPER2 p.Thr122Arg Uncertain significance Single submitter
- CATSPER2 p.Val148Glu Uncertain significance Single submitter
- CATSPER2 p.Val148Leu Uncertain significance Single submitter
- CATSPER2 p.Val179Ile Uncertain significance Single submitter
- CATSPER2 p.Val197Ala Uncertain significance Single submitter
- CATSPER2 p.Val409Leu Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- CATSPER2 p.Ala176Val Uncertain significance Single submitter
- CATSPER2 p.Arg213Gln Uncertain significance Single submitter
- CATSPER2 p.Arg21Cys Uncertain significance Single submitter
- CATSPER2 p.Arg21Ser Uncertain significance Single submitter
- CATSPER2 p.Arg271Leu Uncertain significance Single submitter
- CATSPER2 p.Arg271Pro Uncertain significance Single submitter
- CATSPER2 p.Arg314Cys Uncertain significance Single submitter
- CATSPER2 p.Arg357His Likely benign Single submitter
- CATSPER2 p.Arg41Trp Uncertain significance Single submitter
- CATSPER2 p.Arg73Cys Uncertain significance Single submitter
- CATSPER2 p.Asn343Asp Uncertain significance Single submitter
- CATSPER2 p.Asp49Ala Uncertain significance Single submitter
- CATSPER2 p.Gln226Pro Uncertain significance Single submitter
- CATSPER2 p.Glu275Gly Uncertain significance Single submitter
- CATSPER2 p.Gly480Arg Uncertain significance Single submitter
- CATSPER2 p.His298Arg Uncertain significance Single submitter
- CATSPER2 p.Ile114Phe Uncertain significance Single submitter
- CATSPER2 p.Ile124Thr Uncertain significance Single submitter
- CATSPER2 p.Ile254Thr Uncertain significance Single submitter
- CATSPER2 p.Leu218Val Likely benign Single submitter
- CATSPER2 p.Leu238Phe Uncertain significance Single submitter
- CATSPER2 p.Leu97Phe Uncertain significance Single submitter
- CATSPER2 p.Lys219Arg Uncertain significance Single submitter
- CATSPER2 p.Lys239Gln Uncertain significance Single submitter
- CATSPER2 p.Lys514Met Uncertain significance Single submitter
- CATSPER2 p.Lys515Met Uncertain significance Single submitter
- CATSPER2 p.Phe110Tyr Uncertain significance Single submitter
- CATSPER2 p.Phe169Ile Uncertain significance Single submitter
- CATSPER2 p.Phe251Ile Uncertain significance Single submitter
- CATSPER2 p.Phe252Val Uncertain significance Single submitter
- CATSPER2 p.Phe367Leu Uncertain significance Single submitter
- CATSPER2 p.Pro492Ser Uncertain significance Single submitter
- CATSPER2 p.Ser448Thr Uncertain significance Single submitter
- CATSPER2 p.Ser457Pro Uncertain significance Single submitter
- CATSPER2 p.Ser51Phe Uncertain significance Single submitter
- CATSPER2 p.Ser98Phe Uncertain significance Single submitter
- CATSPER2 p.Thr122Met Uncertain significance Single submitter
-
CATSPER2 p.Trp307Ser
Conflicting
Single submitter
infertility disorder
- CATSPER2 p.Trp470Arg Uncertain significance Single submitter
- CATSPER2 p.Tyr320Cys Uncertain significance Single submitter
- CATSPER2 p.Val65Ala Uncertain significance Single submitter
All CATSPER2 variants
Pathogenic 1
- c.(?_718-34 Single submitter Rare genetic deafness
Conflicting classifications of pathogenicity 2
- p.Arg225His Single submitter ⚠
- p.Trp307Ser Single submitter infertility disorder ⚠
Benign 17
- c.1178+188A>G Multiple submitters
- c.1179-15A>C Multiple submitters
- c.1179-2A>T Multiple submitters Rare genetic deafness
- c.1179-3A>C Multiple submitters Rare genetic deafness
- c.1179-8T>C Multiple submitters
- c.1397-121C>T Multiple submitters
- c.1397-29G>A Multiple submitters
- c.1397-47A>G Multiple submitters
- c.562-107C>G Multiple submitters
- c.562-175T>G Multiple submitters
- c.717+109C>T Multiple submitters
- c.*313A>G Multiple submitters
- p.Ser407Thr Multiple submitters
- p.Val57Ile Multiple submitters
- c.1561+223G>C Single submitter
- c.718-180C>A Single submitter
- p.Arg358Gln Single submitter
Likely benign 15
- c.1561+48G>A Multiple submitters
- c.389-7T>C Single submitter
- p.Arg357His Single submitter ⚠
- p.Asp305= Single submitter
- p.Glu391Asp Single submitter
- p.Glu439Lys Single submitter
- p.Ile74Val Single submitter
- p.Leu218Val Single submitter ⚠
- p.Leu244= Single submitter
- p.Lys376Gln Single submitter
- p.Met366Ile Single submitter
- p.Pro284= Single submitter
- p.Ser447= Single submitter
- p.Thr384= Single submitter
- p.Val118Ile Single submitter
Uncertain significance 88
- p.Arg498Ter Multiple submitters CATSPER2-related condition
- c.-210G>C Single submitter
- p.Ala176Val Single submitter ⚠
- p.Ala356Val Single submitter ⚠
- p.Arg19His Single submitter ⚠
- p.Arg213Gln Single submitter ⚠
- p.Arg21Cys Single submitter ⚠
- p.Arg21Ser Single submitter ⚠
- p.Arg271Leu Single submitter ⚠
- p.Arg271Pro Single submitter ⚠
- p.Arg314Cys Single submitter ⚠
- p.Arg333Leu Single submitter ⚠
- p.Arg41Trp Single submitter ⚠
- p.Arg467Cys Single submitter ⚠
- p.Arg66His Single submitter ⚠
- p.Arg73Cys Single submitter ⚠
- p.Arg90Leu Single submitter ⚠
- p.Asn343Asp Single submitter ⚠
- p.Asp181Gly Single submitter ⚠
- p.Asp392Ala Single submitter ⚠
- p.Asp49Ala Single submitter ⚠
- p.Cys107Phe Single submitter ⚠
- p.Gln11Arg Single submitter ⚠
- p.Gln202Arg Single submitter ⚠
- p.Gln226Pro Single submitter ⚠
- p.Gln228Lys Single submitter ⚠
- p.Gln6Lys Single submitter ⚠
- p.Glu275Gly Single submitter ⚠
- p.Glu391Lys Single submitter ⚠
- p.Glu46Asp Single submitter ⚠
- p.Glu8Val Single submitter ⚠
- p.Gly466Ala Single submitter ⚠
- p.Gly480Arg Single submitter ⚠
- p.His298Arg Single submitter ⚠
- p.Ile114Phe Single submitter ⚠
- p.Ile115Met Single submitter ⚠
- p.Ile124Thr Single submitter ⚠
- p.Ile23Met Single submitter ⚠
- p.Ile254Thr Single submitter ⚠
- p.Ile29Thr Single submitter ⚠
- p.Ile424Val Single submitter ⚠
- p.Ile44Val Single submitter ⚠
- p.Ile465Val Single submitter ⚠
- p.Ile74Met Single submitter ⚠
- p.Leu189Pro Single submitter ⚠
- p.Leu238Phe Single submitter ⚠
- p.Leu302Val Single submitter ⚠
- p.Leu468Ser Single submitter ⚠
- p.Leu97Phe Single submitter ⚠
- p.Lys219Arg Single submitter ⚠
- p.Lys239Gln Single submitter ⚠
- p.Lys514Met Single submitter ⚠
- p.Lys515Met Single submitter ⚠
- p.Met186Val Single submitter ⚠
- p.Met246Ile Single submitter ⚠
- p.Met484Ile Single submitter ⚠
- p.Phe110Tyr Single submitter ⚠
- p.Phe169Ile Single submitter ⚠
- p.Phe251Ile Single submitter ⚠
- p.Phe252Val Single submitter ⚠
- p.Phe367Leu Single submitter ⚠
- p.Pro13Ser Single submitter ⚠
- p.Pro141Ser Single submitter ⚠
- p.Pro479Leu Single submitter ⚠
- p.Pro492Ser Single submitter ⚠
- p.Pro96Leu Single submitter ⚠
- p.Pro96Ser Single submitter ⚠
- p.Ser240Arg Single submitter ⚠
- p.Ser264Leu Single submitter ⚠
- p.Ser281Ala Single submitter ⚠
- p.Ser36Asn Single submitter ⚠
- p.Ser393Gly Single submitter ⚠
- p.Ser407Pro Single submitter ⚠
- p.Ser448Thr Single submitter ⚠
- p.Ser457Pro Single submitter ⚠
- p.Ser51Phe Single submitter ⚠
- p.Ser98Phe Single submitter ⚠
- p.Thr122Arg Single submitter ⚠
- p.Thr122Met Single submitter ⚠
- p.Trp470Arg Single submitter ⚠
- p.Tyr320Cys Single submitter ⚠
- p.Val148Glu Single submitter ⚠
- p.Val148Leu Single submitter ⚠
- p.Val179Ile Single submitter ⚠
- p.Val197Ala Single submitter ⚠
- p.Val409Leu Single submitter ⚠
- p.Val65Ala Single submitter ⚠
- c.842+1G>C No assertion criteria male infertility