CFAP100 — 106 ClinVar variants
All ClinVar germline CFAP100 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
11 Likely benign · 95 Uncertain significance
Full CFAP100 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP100 p.Ala126Ser Uncertain significance Single submitter
- CFAP100 p.Ala499Thr Uncertain significance Single submitter
- CFAP100 p.Ala565Val Uncertain significance Single submitter
- CFAP100 p.Arg103Gln Uncertain significance Single submitter
- CFAP100 p.Arg334Gly Uncertain significance Single submitter
- CFAP100 p.Arg395Gln Uncertain significance Single submitter
- CFAP100 p.Arg40Thr Uncertain significance Single submitter
- CFAP100 p.Arg431Lys Uncertain significance Single submitter
- CFAP100 p.Arg462Gln Uncertain significance Single submitter
- CFAP100 p.Arg490Gln Uncertain significance Single submitter
- CFAP100 p.Arg541Pro Uncertain significance Single submitter
- CFAP100 p.Arg566Pro Uncertain significance Single submitter
- CFAP100 p.Asn42Lys Uncertain significance Single submitter
- CFAP100 p.Asp234Gly Uncertain significance Single submitter
- CFAP100 p.Asp472Asn Uncertain significance Single submitter
- CFAP100 p.Cys581Arg Uncertain significance Single submitter
- CFAP100 p.Gln213Lys Uncertain significance Single submitter
- CFAP100 p.Gln370Arg Uncertain significance Single submitter
- CFAP100 p.Glu122Lys Uncertain significance Single submitter
- CFAP100 p.Glu290Gln Uncertain significance Single submitter
- CFAP100 p.Glu290Lys Uncertain significance Single submitter
- CFAP100 p.Glu294Lys Uncertain significance Single submitter
- CFAP100 p.Glu456Asp Uncertain significance Single submitter
- CFAP100 p.Gly357Asp Uncertain significance Single submitter
- CFAP100 p.Gly467Ser Uncertain significance Single submitter
- CFAP100 p.Ile542Leu Uncertain significance Single submitter
- CFAP100 p.Ile571Val Uncertain significance Single submitter
- CFAP100 p.Ile8Thr Uncertain significance Single submitter
- CFAP100 p.Leu342Pro Uncertain significance Single submitter
- CFAP100 p.Leu478Pro Uncertain significance Single submitter
- CFAP100 p.Leu74Ile Uncertain significance Single submitter
- CFAP100 p.Lys134Arg Uncertain significance Single submitter
- CFAP100 p.Lys195Glu Uncertain significance Single submitter
- CFAP100 p.Lys257Arg Uncertain significance Single submitter
- CFAP100 p.Lys41Ile Uncertain significance Single submitter
- CFAP100 p.Lys591Glu Uncertain significance Single submitter
- CFAP100 p.Phe384Leu Uncertain significance Single submitter
- CFAP100 p.Pro368Ala Uncertain significance Single submitter
- CFAP100 p.Pro368Arg Uncertain significance Single submitter
- CFAP100 p.Ser338Arg Uncertain significance Single submitter
- CFAP100 p.Ser343Thr Uncertain significance Single submitter
- CFAP100 p.Thr131Arg Uncertain significance Single submitter
- CFAP100 p.Thr82Arg Uncertain significance Single submitter
- CFAP100 p.Val504Met Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- CFAP100 p.Ala179Val Uncertain significance Single submitter
- CFAP100 p.Ala224Asp Uncertain significance Single submitter
- CFAP100 p.Ala563Val Uncertain significance Single submitter
- CFAP100 p.Ala73Pro Uncertain significance Single submitter
- CFAP100 p.Arg103Trp Uncertain significance Single submitter
- CFAP100 p.Arg174Trp Uncertain significance Single submitter
- CFAP100 p.Arg216Gly Uncertain significance Single submitter
- CFAP100 p.Arg233Trp Uncertain significance Single submitter
- CFAP100 p.Arg334Trp Uncertain significance Single submitter
- CFAP100 p.Arg337Trp Uncertain significance Single submitter
- CFAP100 p.Arg428Cys Uncertain significance Single submitter
- CFAP100 p.Arg428His Uncertain significance Single submitter
- CFAP100 p.Arg540Trp Uncertain significance Single submitter
- CFAP100 p.Arg541Cys Uncertain significance Single submitter
- CFAP100 p.Arg545Gln Uncertain significance Single submitter
- CFAP100 p.Arg562Trp Uncertain significance Single submitter
- CFAP100 p.Arg566Cys Uncertain significance Single submitter
- CFAP100 p.Arg566His Uncertain significance Single submitter
- CFAP100 p.Arg582His Uncertain significance Single submitter
- CFAP100 p.Arg70Gln Uncertain significance Single submitter
- CFAP100 p.Arg70Trp Uncertain significance Single submitter
- CFAP100 p.Asn482Ile Uncertain significance Single submitter
- CFAP100 p.Asp196Ala Uncertain significance Single submitter
- CFAP100 p.Asp487Asn Uncertain significance Single submitter
- CFAP100 p.Asp487Tyr Uncertain significance Single submitter
- CFAP100 p.Gln496Arg Uncertain significance Single submitter
- CFAP100 p.Glu287Val Uncertain significance Single submitter
- CFAP100 p.Glu371Lys Uncertain significance Single submitter
- CFAP100 p.Glu450Lys Uncertain significance Single submitter
- CFAP100 p.Glu451Lys Uncertain significance Single submitter
- CFAP100 p.Glu530Lys Uncertain significance Single submitter
- CFAP100 p.Glu557Asp Uncertain significance Single submitter
- CFAP100 p.Glu604Gly Uncertain significance Single submitter
- CFAP100 p.Glu605Gln Uncertain significance Single submitter
- CFAP100 p.Gly494Ser Uncertain significance Single submitter
- CFAP100 p.His491Tyr Uncertain significance Single submitter
- CFAP100 p.Ile239Thr Uncertain significance Single submitter
- CFAP100 p.Leu555Pro Uncertain significance Single submitter
- CFAP100 p.Leu579Pro Uncertain significance Single submitter
- CFAP100 p.Lys134Asn Uncertain significance Single submitter
- CFAP100 p.Lys243Arg Uncertain significance Single submitter
- CFAP100 p.Ser352Arg Uncertain significance Single submitter
- CFAP100 p.Ser362Leu Uncertain significance Single submitter
- CFAP100 p.Ser362Trp Uncertain significance Single submitter
- CFAP100 p.Ser375Asn Uncertain significance Single submitter
- CFAP100 p.Ser6Phe Uncertain significance Single submitter
- CFAP100 p.Tyr151Cys Uncertain significance Single submitter
- CFAP100 p.Tyr259Cys Uncertain significance Single submitter
- CFAP100 p.Tyr91Cys Uncertain significance Single submitter
- CFAP100 p.Val212Met Uncertain significance Single submitter
- CFAP100 p.Val85Met Uncertain significance Single submitter
All CFAP100 variants
Likely benign 11
- p.Ala179= Single submitter
- p.Asp358Asn Single submitter
- p.Gln105Glu Single submitter
- p.Glu294Asp Single submitter
- p.Glu43Lys Single submitter
- p.Gly46Val Single submitter
- p.Lys36Glu Single submitter
- p.Met148Ile Single submitter
- p.Ser244= Single submitter
- p.Ser280Leu Single submitter
- p.Thr414Ala Single submitter
Uncertain significance 95
- p.Ala126Ser Single submitter ⚠
- p.Ala179Val Single submitter ⚠
- p.Ala224Asp Single submitter ⚠
- p.Ala499Thr Single submitter ⚠
- p.Ala563Val Single submitter ⚠
- p.Ala565Val Single submitter ⚠
- p.Ala73Pro Single submitter ⚠
- p.Arg103Gln Single submitter ⚠
- p.Arg103Trp Single submitter ⚠
- p.Arg174Trp Single submitter ⚠
- p.Arg216Gly Single submitter ⚠
- p.Arg233Trp Single submitter ⚠
- p.Arg334Gly Single submitter ⚠
- p.Arg334Trp Single submitter ⚠
- p.Arg337Trp Single submitter ⚠
- p.Arg395Gln Single submitter ⚠
- p.Arg40Thr Single submitter ⚠
- p.Arg428Cys Single submitter ⚠
- p.Arg428His Single submitter ⚠
- p.Arg431Lys Single submitter ⚠
- p.Arg462Gln Single submitter ⚠
- p.Arg490Gln Single submitter ⚠
- p.Arg540Trp Single submitter ⚠
- p.Arg541Cys Single submitter ⚠
- p.Arg541Pro Single submitter ⚠
- p.Arg545Gln Single submitter ⚠
- p.Arg562Trp Single submitter ⚠
- p.Arg566Cys Single submitter ⚠
- p.Arg566His Single submitter ⚠
- p.Arg566Pro Single submitter ⚠
- p.Arg582His Single submitter ⚠
- p.Arg70Gln Single submitter ⚠
- p.Arg70Trp Single submitter ⚠
- p.Asn42Lys Single submitter ⚠
- p.Asn482Ile Single submitter ⚠
- p.Asp196Ala Single submitter ⚠
- p.Asp234Gly Single submitter ⚠
- p.Asp472Asn Single submitter ⚠
- p.Asp487Asn Single submitter ⚠
- p.Asp487Tyr Single submitter ⚠
- p.Cys581Arg Single submitter ⚠
- p.Gln213Lys Single submitter ⚠
- p.Gln370Arg Single submitter ⚠
- p.Gln496Arg Single submitter ⚠
- p.Glu122Lys Single submitter ⚠
- p.Glu287Val Single submitter ⚠
- p.Glu290Gln Single submitter ⚠
- p.Glu290Lys Single submitter ⚠
- p.Glu294Lys Single submitter ⚠
- p.Glu371Lys Single submitter ⚠
- p.Glu450Lys Single submitter ⚠
- p.Glu451Lys Single submitter ⚠
- p.Glu456Asp Single submitter ⚠
- p.Glu530Lys Single submitter ⚠
- p.Glu557Asp Single submitter ⚠
- p.Glu604Gly Single submitter ⚠
- p.Glu605Gln Single submitter ⚠
- p.Gly357Asp Single submitter ⚠
- p.Gly467Ser Single submitter ⚠
- p.Gly494Ser Single submitter ⚠
- p.His491Tyr Single submitter ⚠
- p.Ile239Thr Single submitter ⚠
- p.Ile542Leu Single submitter ⚠
- p.Ile571Val Single submitter ⚠
- p.Ile8Thr Single submitter ⚠
- p.Leu342Pro Single submitter ⚠
- p.Leu478Pro Single submitter ⚠
- p.Leu555Pro Single submitter ⚠
- p.Leu579Pro Single submitter ⚠
- p.Leu74Ile Single submitter ⚠
- p.Lys134Arg Single submitter ⚠
- p.Lys134Asn Single submitter ⚠
- p.Lys195Glu Single submitter ⚠
- p.Lys243Arg Single submitter ⚠
- p.Lys257Arg Single submitter ⚠
- p.Lys41Ile Single submitter ⚠
- p.Lys591Glu Single submitter ⚠
- p.Phe384Leu Single submitter ⚠
- p.Pro368Ala Single submitter ⚠
- p.Pro368Arg Single submitter ⚠
- p.Ser338Arg Single submitter ⚠
- p.Ser343Thr Single submitter ⚠
- p.Ser352Arg Single submitter ⚠
- p.Ser362Leu Single submitter ⚠
- p.Ser362Trp Single submitter ⚠
- p.Ser375Asn Single submitter ⚠
- p.Ser6Phe Single submitter ⚠
- p.Thr131Arg Single submitter ⚠
- p.Thr82Arg Single submitter ⚠
- p.Tyr151Cys Single submitter ⚠
- p.Tyr259Cys Single submitter ⚠
- p.Tyr91Cys Single submitter ⚠
- p.Val212Met Single submitter ⚠
- p.Val504Met Single submitter ⚠
- p.Val85Met Single submitter ⚠