CFAP69 — 154 ClinVar variants
All ClinVar germline CFAP69 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
4 Pathogenic · 2 Likely pathogenic · 14 Benign · 16 Likely benign · 118 Uncertain significance
Full CFAP69 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP69 p.Tyr819His Uncertain significance Multiple submitters
- CFAP69 p.Ala182Val Uncertain significance Single submitter
- CFAP69 p.Ala237Pro Uncertain significance Single submitter
- CFAP69 p.Ala808Thr Uncertain significance Single submitter
- CFAP69 p.Ala846Thr Uncertain significance Single submitter
- CFAP69 p.Ala852Val Uncertain significance Single submitter
- CFAP69 p.Ala912Val Uncertain significance Single submitter
- CFAP69 p.Arg106Ser Uncertain significance Single submitter
- CFAP69 p.Arg473Gln Uncertain significance Single submitter
- CFAP69 p.Arg481His Uncertain significance Single submitter
- CFAP69 p.Asn95Asp Uncertain significance Single submitter
- CFAP69 p.Asp380Gly Uncertain significance Single submitter
- CFAP69 p.Asp654Glu Uncertain significance Single submitter
- CFAP69 p.Asp713Glu Uncertain significance Single submitter
- CFAP69 p.Asp811Asn Uncertain significance Single submitter
- CFAP69 p.Asp908Asn Uncertain significance Single submitter
- CFAP69 p.Cys598Tyr Uncertain significance Single submitter
- CFAP69 p.Gln76Arg Uncertain significance Single submitter
- CFAP69 p.Gln76His Uncertain significance Single submitter
- CFAP69 p.Gln800Lys Uncertain significance Single submitter
- CFAP69 p.Gln89His Uncertain significance Single submitter
- CFAP69 p.Glu56Lys Uncertain significance Single submitter
- CFAP69 p.Gly727Asp Uncertain significance Single submitter
- CFAP69 p.Gly757Arg Uncertain significance Single submitter
- CFAP69 p.Gly81Glu Uncertain significance Single submitter
- CFAP69 p.Gly920Arg Uncertain significance Single submitter
- CFAP69 p.His168Tyr Uncertain significance Single submitter
- CFAP69 p.His246Tyr Uncertain significance Single submitter
- CFAP69 p.His565Arg Uncertain significance Single submitter
- CFAP69 p.Ile17Val Uncertain significance Single submitter
- CFAP69 p.Ile233Thr Uncertain significance Single submitter
- CFAP69 p.Ile319Val Uncertain significance Single submitter
- CFAP69 p.Ile374Met Uncertain significance Single submitter
- CFAP69 p.Ile435Thr Uncertain significance Single submitter
- CFAP69 p.Ile595Val Uncertain significance Single submitter
- CFAP69 p.Ile662Thr Uncertain significance Single submitter
- CFAP69 p.Ile725Thr Uncertain significance Single submitter
- CFAP69 p.Ile767Met Uncertain significance Single submitter
- CFAP69 p.Ile939Ser Uncertain significance Single submitter
- CFAP69 p.Ile93Ser Uncertain significance Single submitter
- CFAP69 p.Leu144Pro Uncertain significance Single submitter
- CFAP69 p.Leu206Phe Uncertain significance Single submitter
- CFAP69 p.Leu211Pro Uncertain significance Single submitter
- CFAP69 p.Leu350Ile Uncertain significance Single submitter
- CFAP69 p.Leu539Phe Uncertain significance Single submitter
- CFAP69 p.Leu614Pro Uncertain significance Single submitter
- CFAP69 p.Leu68Val Uncertain significance Single submitter
- CFAP69 p.Leu772Ile Uncertain significance Single submitter
- CFAP69 p.Lys353Arg Uncertain significance Single submitter
- CFAP69 p.Lys407Glu Uncertain significance Single submitter
- CFAP69 p.Lys670Glu Uncertain significance Single submitter
- CFAP69 p.Met200Val Uncertain significance Single submitter
- CFAP69 p.Met480Ile Uncertain significance Single submitter
- CFAP69 p.Pro177Ser Uncertain significance Single submitter
- CFAP69 p.Pro600Leu Uncertain significance Single submitter
- CFAP69 p.Pro600Ser Uncertain significance Single submitter
- CFAP69 p.Pro905Ser Uncertain significance Single submitter
- CFAP69 p.Ser535Ala Uncertain significance Single submitter
- CFAP69 p.Thr34Lys Uncertain significance Single submitter
- CFAP69 p.Thr776Ile Uncertain significance Single submitter
- CFAP69 p.Thr843Lys Uncertain significance Single submitter
- CFAP69 p.Thr893Ala Uncertain significance Single submitter
- CFAP69 p.Thr909Lys Uncertain significance Single submitter
- CFAP69 p.Thr909Met Uncertain significance Single submitter
- CFAP69 p.Thr941Met Uncertain significance Single submitter
- CFAP69 p.Trp2Cys Uncertain significance Single submitter
- CFAP69 p.Tyr133Ser Uncertain significance Single submitter
- CFAP69 p.Tyr167Cys Uncertain significance Single submitter
- CFAP69 p.Tyr186His Uncertain significance Single submitter
- CFAP69 p.Tyr482Cys Uncertain significance Single submitter
- CFAP69 p.Val164Ile Uncertain significance Single submitter
- CFAP69 p.Val217Ile Uncertain significance Single submitter
- CFAP69 p.Val229Ile Uncertain significance Single submitter
- CFAP69 p.Val714Ile Uncertain significance Single submitter
- CFAP69 p.Val71Leu Uncertain significance Single submitter
Predictors split 47
The independent predictors disagree with each other — read with care.
- CFAP69 p.Arg306Cys Benign Multiple submitters
- CFAP69 p.Phe731Leu Uncertain significance Multiple submitters
-
CFAP69 p.Thr885Met
Benign
Multiple submitters
spermatogenic failure 24
- CFAP69 p.Arg259Ser Uncertain significance Single submitter
- CFAP69 p.Arg306His Uncertain significance Single submitter
- CFAP69 p.Arg481Cys Uncertain significance Single submitter
- CFAP69 p.Arg676Cys Uncertain significance Single submitter
- CFAP69 p.Asn523Lys Uncertain significance Single submitter
- CFAP69 p.Asp113Gly Uncertain significance Single submitter
- CFAP69 p.Asp638Gly Uncertain significance Single submitter
- CFAP69 p.Cys441Arg Uncertain significance Single submitter
- CFAP69 p.Glu213Gln Uncertain significance Single submitter
- CFAP69 p.Glu607Asp Uncertain significance Single submitter
- CFAP69 p.Glu607Gly Uncertain significance Single submitter
- CFAP69 p.Gly300Asp Uncertain significance Single submitter
- CFAP69 p.Gly556Arg Uncertain significance Single submitter
- CFAP69 p.Ile315Val Uncertain significance Single submitter
- CFAP69 p.Ile374Thr Uncertain significance Single submitter
- CFAP69 p.Ile512Thr Uncertain significance Single submitter
- CFAP69 p.Ile540Asn Uncertain significance Single submitter
- CFAP69 p.Ile803Thr Uncertain significance Single submitter
- CFAP69 p.Ile860Met Uncertain significance Single submitter
- CFAP69 p.Ile860Thr Uncertain significance Single submitter
- CFAP69 p.Leu396Val Uncertain significance Single submitter
- CFAP69 p.Leu531Ser Uncertain significance Single submitter
- CFAP69 p.Leu564Phe Uncertain significance Single submitter
- CFAP69 p.Leu630Val Uncertain significance Single submitter
- CFAP69 p.Leu664Ser Uncertain significance Single submitter
- CFAP69 p.Lys198Asn Uncertain significance Single submitter
- CFAP69 p.Lys525Arg Uncertain significance Single submitter
- CFAP69 p.Lys728Arg Uncertain significance Single submitter
- CFAP69 p.Met200Thr Uncertain significance Single submitter
- CFAP69 p.Met633Arg Uncertain significance Single submitter
- CFAP69 p.Phe258Leu Uncertain significance Single submitter
- CFAP69 p.Phe839Leu Uncertain significance Single submitter
- CFAP69 p.Pro459Leu Benign Single submitter
- CFAP69 p.Ser25Arg Likely benign Single submitter
- CFAP69 p.Ser281Arg Uncertain significance Single submitter
- CFAP69 p.Ser692Gly Uncertain significance Single submitter
- CFAP69 p.Ser896Arg Uncertain significance Single submitter
- CFAP69 p.Tyr179His Uncertain significance Single submitter
- CFAP69 p.Tyr361Cys Uncertain significance Single submitter
- CFAP69 p.Tyr399Cys Uncertain significance Single submitter
- CFAP69 p.Tyr580Cys Uncertain significance Single submitter
- CFAP69 p.Val220Leu Uncertain significance Single submitter
- CFAP69 p.Val30Phe Uncertain significance Single submitter
- CFAP69 p.Val491Ile Uncertain significance Single submitter
All CFAP69 variants
Pathogenic 4
- c.860+1G>A No assertion criteria spermatogenic failure 24
- p.Gln255Ter No assertion criteria spermatogenic failure 24
- p.Leu357fs No assertion criteria spermatogenic failure 24
- p.Trp216Ter No assertion criteria spermatogenic failure 24
Likely pathogenic 2
- p.Arg868Ter Single submitter Non-syndromic male infertility due to sperm motility disorder
- p.Ile114fs Single submitter Susceptibility to severe COVID-19
Benign 14
- c.1857+47T>A Multiple submitters spermatogenic failure 24
- c.682+50A>C Multiple submitters spermatogenic failure 24
- p.Ala12= Multiple submitters
- p.Ala182= Multiple submitters
- p.Ala8= Multiple submitters
- p.Arg106His Multiple submitters
- p.Arg306Cys Multiple submitters ⚠
- p.Ile562= Multiple submitters
- p.Leu369= Multiple submitters
- p.Ser854Arg Multiple submitters spermatogenic failure 24
- p.Thr885Met Multiple submitters spermatogenic failure 24 ⚠
- p.Val490Met Multiple submitters spermatogenic failure 24
- p.Pro459Leu Single submitter ⚠
- p.Asn372= No assertion criteria CFAP69-related disorder
Likely benign 16
- p.Asn679His Single submitter
- p.Cys809Arg Single submitter
- p.Gln650Arg Single submitter
- p.Gln876Arg Single submitter
- p.Ile108Val Single submitter
- p.Ile873Val Single submitter
- p.Leu421= Single submitter
- p.Leu82Phe Single submitter
- p.Ser25Arg Single submitter ⚠
- p.Val373Ile Single submitter
- p.Val384Ile Single submitter
- c.-7A>C No assertion criteria CFAP69-related disorder
- p.Leu541= No assertion criteria CFAP69-related disorder
- p.Met46Val No assertion criteria CFAP69-related disorder
- p.Thr825Met No assertion criteria CFAP69-related disorder
- p.Val894Gly No assertion criteria CFAP69-related disorder
Uncertain significance 118
- p.Phe731Leu Multiple submitters ⚠
- p.Tyr819His Multiple submitters ⚠
- p.Ala182Val Single submitter ⚠
- p.Ala237Pro Single submitter ⚠
- p.Ala808Thr Single submitter ⚠
- p.Ala846Thr Single submitter ⚠
- p.Ala852Val Single submitter ⚠
- p.Ala912Val Single submitter ⚠
- p.Arg106Ser Single submitter ⚠
- p.Arg259Ser Single submitter ⚠
- p.Arg306His Single submitter ⚠
- p.Arg473Gln Single submitter ⚠
- p.Arg481Cys Single submitter ⚠
- p.Arg481His Single submitter ⚠
- p.Arg676Cys Single submitter ⚠
- p.Asn523Lys Single submitter ⚠
- p.Asn95Asp Single submitter ⚠
- p.Asp113Gly Single submitter ⚠
- p.Asp380Gly Single submitter ⚠
- p.Asp638Gly Single submitter ⚠
- p.Asp654Glu Single submitter ⚠
- p.Asp713Glu Single submitter ⚠
- p.Asp811Asn Single submitter ⚠
- p.Asp908Asn Single submitter ⚠
- p.Cys441Arg Single submitter ⚠
- p.Cys598Tyr Single submitter ⚠
- p.Gln76Arg Single submitter ⚠
- p.Gln76His Single submitter ⚠
- p.Gln800Lys Single submitter ⚠
- p.Gln89His Single submitter ⚠
- p.Glu213Gln Single submitter ⚠
- p.Glu56Lys Single submitter ⚠
- p.Glu607Asp Single submitter ⚠
- p.Glu607Gly Single submitter ⚠
- p.Gly300Asp Single submitter ⚠
- p.Gly556Arg Single submitter ⚠
- p.Gly727Asp Single submitter ⚠
- p.Gly757Arg Single submitter ⚠
- p.Gly81Glu Single submitter ⚠
- p.Gly920Arg Single submitter ⚠
- p.His168Tyr Single submitter ⚠
- p.His246Tyr Single submitter ⚠
- p.His565Arg Single submitter ⚠
- p.Ile17Val Single submitter ⚠
- p.Ile233Thr Single submitter ⚠
- p.Ile315Val Single submitter ⚠
- p.Ile319Val Single submitter ⚠
- p.Ile374Met Single submitter ⚠
- p.Ile374Thr Single submitter ⚠
- p.Ile435Thr Single submitter ⚠
- p.Ile512Thr Single submitter ⚠
- p.Ile540Asn Single submitter ⚠
- p.Ile595Val Single submitter ⚠
- p.Ile662Thr Single submitter ⚠
- p.Ile725Thr Single submitter ⚠
- p.Ile767Met Single submitter ⚠
- p.Ile803Thr Single submitter ⚠
- p.Ile860Met Single submitter ⚠
- p.Ile860Thr Single submitter ⚠
- p.Ile939Ser Single submitter ⚠
- p.Ile93Ser Single submitter ⚠
- p.Leu144Pro Single submitter ⚠
- p.Leu206Phe Single submitter ⚠
- p.Leu211Pro Single submitter ⚠
- p.Leu350Ile Single submitter ⚠
- p.Leu396Val Single submitter ⚠
- p.Leu531Ser Single submitter ⚠
- p.Leu539Phe Single submitter ⚠
- p.Leu564Phe Single submitter ⚠
- p.Leu614Pro Single submitter ⚠
- p.Leu630Val Single submitter ⚠
- p.Leu664Ser Single submitter ⚠
- p.Leu68Val Single submitter ⚠
- p.Leu772Ile Single submitter ⚠
- p.Lys198Asn Single submitter ⚠
- p.Lys353Arg Single submitter ⚠
- p.Lys407Glu Single submitter ⚠
- p.Lys525Arg Single submitter ⚠
- p.Lys670Glu Single submitter ⚠
- p.Lys728Arg Single submitter ⚠
- p.Met200Thr Single submitter ⚠
- p.Met200Val Single submitter ⚠
- p.Met480Ile Single submitter ⚠
- p.Met633Arg Single submitter ⚠
- p.Phe258Leu Single submitter ⚠
- p.Phe839Leu Single submitter ⚠
- p.Pro177Ser Single submitter ⚠
- p.Pro600Leu Single submitter ⚠
- p.Pro600Ser Single submitter ⚠
- p.Pro905Ser Single submitter ⚠
- p.Ser281Arg Single submitter ⚠
- p.Ser535Ala Single submitter ⚠
- p.Ser692Gly Single submitter ⚠
- p.Ser896Arg Single submitter ⚠
- p.Thr34Lys Single submitter ⚠
- p.Thr776Ile Single submitter ⚠
- p.Thr843Lys Single submitter ⚠
- p.Thr893Ala Single submitter ⚠
- p.Thr909Lys Single submitter ⚠
- p.Thr909Met Single submitter ⚠
- p.Thr941Met Single submitter ⚠
- p.Trp2Cys Single submitter ⚠
- p.Tyr133Ser Single submitter ⚠
- p.Tyr167Cys Single submitter ⚠
- p.Tyr179His Single submitter ⚠
- p.Tyr186His Single submitter ⚠
- p.Tyr361Cys Single submitter ⚠
- p.Tyr399Cys Single submitter ⚠
- p.Tyr482Cys Single submitter ⚠
- p.Tyr580Cys Single submitter ⚠
- p.Val164Ile Single submitter ⚠
- p.Val217Ile Single submitter ⚠
- p.Val220Leu Single submitter ⚠
- p.Val229Ile Single submitter ⚠
- p.Val30Phe Single submitter ⚠
- p.Val491Ile Single submitter ⚠
- p.Val714Ile Single submitter ⚠
- p.Val71Leu Single submitter ⚠