CATIP — 55 ClinVar variants
All ClinVar germline CATIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Likely pathogenic · 1 Benign · 4 Likely benign · 49 Uncertain significance
Full CATIP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CATIP p.Ala363Thr Uncertain significance Multiple submitters
- CATIP p.Arg187Gln Uncertain significance Single submitter
- CATIP p.Arg311Gln Uncertain significance Single submitter
- CATIP p.Arg383Gly Uncertain significance Single submitter
- CATIP p.Arg93Gln Uncertain significance Single submitter
- CATIP p.Asp251Asn Uncertain significance Single submitter
- CATIP p.Asp296Asn Uncertain significance Single submitter
- CATIP p.Glu276Gln Uncertain significance Single submitter
- CATIP p.Glu31Ala Uncertain significance Single submitter
- CATIP p.Gly102Arg Uncertain significance Single submitter
- CATIP p.Gly365Asp Uncertain significance Single submitter
- CATIP p.Gly365Ser Uncertain significance Single submitter
- CATIP p.Gly385Arg Uncertain significance Single submitter
- CATIP p.His222Tyr Uncertain significance Single submitter
- CATIP p.Ile280Thr Uncertain significance Single submitter
- CATIP p.Leu106Arg Uncertain significance Single submitter
- CATIP p.Met131Val Uncertain significance Single submitter
- CATIP p.Met271Thr Uncertain significance Single submitter
- CATIP p.Met81Ile Uncertain significance Single submitter
- CATIP p.Met99Ile Uncertain significance Single submitter
- CATIP p.Pro20Leu Uncertain significance Single submitter
- CATIP p.Pro378Ala Uncertain significance Single submitter
- CATIP p.Ser360Leu Uncertain significance Single submitter
- CATIP p.Ser92Arg Uncertain significance Single submitter
- CATIP p.Tyr246Asn Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- CATIP p.Ser57Leu Uncertain significance Multiple submitters
- CATIP p.Ala348Thr Uncertain significance Single submitter
- CATIP p.Arg195Cys Uncertain significance Single submitter
- CATIP p.Asp142His Uncertain significance Single submitter
- CATIP p.Asp305His Uncertain significance Single submitter
- CATIP p.Asp355Glu Uncertain significance Single submitter
- CATIP p.Glu152Asp Uncertain significance Single submitter
- CATIP p.Glu31Lys Uncertain significance Single submitter
- CATIP p.Glu349Val Uncertain significance Single submitter
- CATIP p.Gly80Ser Uncertain significance Single submitter
- CATIP p.Gly94Ala Uncertain significance Single submitter
- CATIP p.His253Gln Uncertain significance Single submitter
- CATIP p.Leu115Phe Uncertain significance Single submitter
- CATIP p.Leu44Pro Uncertain significance Single submitter
- CATIP p.Phe354Leu Uncertain significance Single submitter
- CATIP p.Phe354Ser Uncertain significance Single submitter
-
CATIP p.Phe35Ile
Likely pathogenic
Single submitter
spermatogenic failure 54
- CATIP p.Pro164Thr Uncertain significance Single submitter
- CATIP p.Pro263Gln Uncertain significance Single submitter
- CATIP p.Pro272Thr Uncertain significance Single submitter
- CATIP p.Pro356Gln Uncertain significance Single submitter
- CATIP p.Pro359Gln Uncertain significance Single submitter
- CATIP p.Ser104Ala Uncertain significance Single submitter
- CATIP p.Ser38Tyr Uncertain significance Single submitter
- CATIP p.Val70Met Uncertain significance Single submitter
All CATIP variants
Likely pathogenic 1
- p.Phe35Ile Single submitter spermatogenic failure 54 ⚠
Benign 1
- p.Glu202Lys Single submitter
Likely benign 4
- p.Asp34Asn Single submitter
- p.Asp97= Single submitter
- p.Cys22Ser Single submitter
- p.Ser316Thr Single submitter
Uncertain significance 49
- p.Ala363Thr Multiple submitters ⚠
- p.Ser57Leu Multiple submitters ⚠
- p.Ala348Thr Single submitter ⚠
- p.Arg187Gln Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg383Gly Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Asp142His Single submitter ⚠
- p.Asp251Asn Single submitter ⚠
- p.Asp296Asn Single submitter ⚠
- p.Asp305His Single submitter ⚠
- p.Asp355Glu Single submitter ⚠
- p.Glu152Asp Single submitter ⚠
- p.Glu276Gln Single submitter ⚠
- p.Glu31Ala Single submitter ⚠
- p.Glu31Lys Single submitter ⚠
- p.Glu349Val Single submitter ⚠
- p.Gly102Arg Single submitter ⚠
- p.Gly365Asp Single submitter ⚠
- p.Gly365Ser Single submitter ⚠
- p.Gly385Arg Single submitter ⚠
- p.Gly80Ser Single submitter ⚠
- p.Gly94Ala Single submitter ⚠
- p.His222Tyr Single submitter ⚠
- p.His253Gln Single submitter ⚠
- p.Ile280Thr Single submitter ⚠
- p.Leu106Arg Single submitter ⚠
- p.Leu115Phe Single submitter ⚠
- p.Leu44Pro Single submitter ⚠
- p.Met131Val Single submitter ⚠
- p.Met271Thr Single submitter ⚠
- p.Met81Ile Single submitter ⚠
- p.Met99Ile Single submitter ⚠
- p.Phe354Leu Single submitter ⚠
- p.Phe354Ser Single submitter ⚠
- p.Pro164Thr Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro263Gln Single submitter ⚠
- p.Pro272Thr Single submitter ⚠
- p.Pro356Gln Single submitter ⚠
- p.Pro359Gln Single submitter ⚠
- p.Pro378Ala Single submitter ⚠
- p.Ser104Ala Single submitter ⚠
- p.Ser360Leu Single submitter ⚠
- p.Ser38Tyr Single submitter ⚠
- p.Ser92Arg Single submitter ⚠
- p.Tyr246Asn Single submitter ⚠
- p.Val70Met Single submitter ⚠