CFAP92 — 64 ClinVar variants
All ClinVar germline CFAP92 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
8 Likely benign · 56 Uncertain significance
Full CFAP92 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP92 c.1168+22C>G Uncertain significance Single submitter
- CFAP92 c.1168+9T>C Uncertain significance Single submitter
- CFAP92 p.Ala13Ser Uncertain significance Single submitter
- CFAP92 p.Ala377Asp Uncertain significance Single submitter
- CFAP92 p.Arg115His Uncertain significance Single submitter
- CFAP92 p.Arg206Gln Uncertain significance Single submitter
- CFAP92 p.Arg42Ser Uncertain significance Single submitter
- CFAP92 p.Asn183Tyr Uncertain significance Single submitter
- CFAP92 p.Asn243Asp Uncertain significance Single submitter
- CFAP92 p.Asn243Ser Uncertain significance Single submitter
- CFAP92 p.Asp160Asn Uncertain significance Single submitter
- CFAP92 p.Asp215Asn Uncertain significance Single submitter
- CFAP92 p.Asp68Asn Uncertain significance Single submitter
- CFAP92 p.Cys75Phe Uncertain significance Single submitter
- CFAP92 p.Glu16Lys Uncertain significance Single submitter
- CFAP92 p.Glu60Lys Uncertain significance Single submitter
- CFAP92 p.Gly312Glu Uncertain significance Single submitter
- CFAP92 p.His103Gln Uncertain significance Single submitter
- CFAP92 p.His272Tyr Uncertain significance Single submitter
- CFAP92 p.Ile15Thr Uncertain significance Single submitter
- CFAP92 p.Ile18Val Uncertain significance Single submitter
- CFAP92 p.Ile333Leu Uncertain significance Single submitter
- CFAP92 p.Leu327Arg Uncertain significance Single submitter
- CFAP92 p.Lys263Glu Uncertain significance Single submitter
- CFAP92 p.Lys281Asn Uncertain significance Single submitter
- CFAP92 p.Lys319Glu Uncertain significance Single submitter
- CFAP92 p.Lys40Asn Uncertain significance Single submitter
- CFAP92 p.Lys90Glu Uncertain significance Single submitter
- CFAP92 p.Lys92Arg Uncertain significance Single submitter
- CFAP92 p.Met315Lys Uncertain significance Single submitter
- CFAP92 p.Pro12Thr Uncertain significance Single submitter
- CFAP92 p.Pro254Leu Uncertain significance Single submitter
- CFAP92 p.Pro51Leu Uncertain significance Single submitter
- CFAP92 p.Ser249Leu Uncertain significance Single submitter
- CFAP92 p.Ser29Gly Uncertain significance Single submitter
- CFAP92 p.Ser95Asn Uncertain significance Single submitter
- CFAP92 p.Thr169Ser Uncertain significance Single submitter
- CFAP92 p.Thr307Ala Uncertain significance Single submitter
- CFAP92 p.Val144Ile Uncertain significance Single submitter
- CFAP92 p.Val153Met Uncertain significance Single submitter
- CFAP92 p.Val384Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- CFAP92 p.Arg114Cys Uncertain significance Single submitter
- CFAP92 p.Arg114His Uncertain significance Single submitter
- CFAP92 p.Asp127Asn Uncertain significance Single submitter
- CFAP92 p.Asp196Asn Uncertain significance Single submitter
- CFAP92 p.Glu158Lys Uncertain significance Single submitter
- CFAP92 p.Glu167Lys Uncertain significance Single submitter
- CFAP92 p.Leu37Met Uncertain significance Single submitter
- CFAP92 p.Lys197Arg Uncertain significance Single submitter
- CFAP92 p.Phe184Leu Uncertain significance Single submitter
- CFAP92 p.Pro74Ser Uncertain significance Single submitter
- CFAP92 p.Ser165Leu Uncertain significance Single submitter
- CFAP92 p.Ser267Phe Uncertain significance Single submitter
- CFAP92 p.Ser296Pro Uncertain significance Single submitter
- CFAP92 p.Trp192Cys Uncertain significance Single submitter
- CFAP92 p.Val224Gly Uncertain significance Single submitter
All CFAP92 variants
Likely benign 8
- p.Gly504= Single submitter
- p.His724= Single submitter
- p.Ile333Met Single submitter
- p.Lys233Arg Single submitter
- p.Lys291Arg Single submitter
- p.Met113Leu Single submitter
- p.Pro931= Single submitter
- p.Val150Ile Single submitter
Uncertain significance 56
- c.1168+22C>G Single submitter ⚠
- c.1168+9T>C Single submitter ⚠
- p.Ala13Ser Single submitter ⚠
- p.Ala377Asp Single submitter ⚠
- p.Arg114Cys Single submitter ⚠
- p.Arg114His Single submitter ⚠
- p.Arg115His Single submitter ⚠
- p.Arg206Gln Single submitter ⚠
- p.Arg42Ser Single submitter ⚠
- p.Asn183Tyr Single submitter ⚠
- p.Asn243Asp Single submitter ⚠
- p.Asn243Ser Single submitter ⚠
- p.Asp127Asn Single submitter ⚠
- p.Asp160Asn Single submitter ⚠
- p.Asp196Asn Single submitter ⚠
- p.Asp215Asn Single submitter ⚠
- p.Asp68Asn Single submitter ⚠
- p.Cys75Phe Single submitter ⚠
- p.Glu158Lys Single submitter ⚠
- p.Glu167Lys Single submitter ⚠
- p.Glu16Lys Single submitter ⚠
- p.Glu60Lys Single submitter ⚠
- p.Gly312Glu Single submitter ⚠
- p.His103Gln Single submitter ⚠
- p.His272Tyr Single submitter ⚠
- p.Ile15Thr Single submitter ⚠
- p.Ile18Val Single submitter ⚠
- p.Ile333Leu Single submitter ⚠
- p.Leu327Arg Single submitter ⚠
- p.Leu37Met Single submitter ⚠
- p.Lys197Arg Single submitter ⚠
- p.Lys263Glu Single submitter ⚠
- p.Lys281Asn Single submitter ⚠
- p.Lys319Glu Single submitter ⚠
- p.Lys40Asn Single submitter ⚠
- p.Lys90Glu Single submitter ⚠
- p.Lys92Arg Single submitter ⚠
- p.Met315Lys Single submitter ⚠
- p.Phe184Leu Single submitter ⚠
- p.Pro12Thr Single submitter ⚠
- p.Pro254Leu Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Pro74Ser Single submitter ⚠
- p.Ser165Leu Single submitter ⚠
- p.Ser249Leu Single submitter ⚠
- p.Ser267Phe Single submitter ⚠
- p.Ser296Pro Single submitter ⚠
- p.Ser29Gly Single submitter ⚠
- p.Ser95Asn Single submitter ⚠
- p.Thr169Ser Single submitter ⚠
- p.Thr307Ala Single submitter ⚠
- p.Trp192Cys Single submitter ⚠
- p.Val144Ile Single submitter ⚠
- p.Val153Met Single submitter ⚠
- p.Val224Gly Single submitter ⚠
- p.Val384Ile Single submitter ⚠