CFAP99 — 165 ClinVar variants

All ClinVar germline CFAP99 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

7 Likely benign · 158 Uncertain significance

Full CFAP99 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All CFAP99 variants

Likely benign 7

p.Ala172Thr Single submitter
p.Ala422Val Single submitter
p.Arg395Cys Single submitter
p.Arg398Thr Single submitter
p.Arg401Gln Single submitter
p.Lys514Glu Single submitter
p.Val63Ile Single submitter

Uncertain significance 158

p.Ala255Thr Single submitter
p.Ala307Thr Single submitter
p.Ala366Thr Single submitter
p.Ala369Gly Single submitter
p.Ala396Val Single submitter
p.Ala423Thr Single submitter
p.Ala428Thr Single submitter
p.Ala450Ser Single submitter
p.Ala450Val Single submitter
p.Ala562Thr Single submitter
p.Ala629Val Single submitter
p.Ala645Thr Single submitter
p.Arg120Gly Single submitter
p.Arg198His Single submitter
p.Arg22Ser Single submitter
p.Arg237Cys Single submitter
p.Arg237His Single submitter
p.Arg263Gln Single submitter
p.Arg272Trp Single submitter
p.Arg278Gln Single submitter
p.Arg289Thr Single submitter
p.Arg304Gln Single submitter
p.Arg311Trp Single submitter
p.Arg345Gln Single submitter
p.Arg355Gly Single submitter
p.Arg355Trp Single submitter
p.Arg356Gln Single submitter
p.Arg356Trp Single submitter
p.Arg370Gln Single submitter
p.Arg370Trp Single submitter
p.Arg399Gln Single submitter
p.Arg458Gln Single submitter
p.Arg459Cys Single submitter
p.Arg460Cys Single submitter
p.Arg460His Single submitter
p.Arg468Cys Single submitter
p.Arg468His Single submitter
p.Arg476Cys Single submitter
p.Arg476His Single submitter
p.Arg501Gln Single submitter
p.Arg503Gln Single submitter
p.Arg503Trp Single submitter
p.Arg513Cys Single submitter
p.Arg513His Single submitter
p.Arg573Gly Single submitter
p.Arg573Ser Single submitter
p.Arg588His Single submitter
p.Arg588Pro Single submitter
p.Arg58Gln Single submitter
p.Arg58Trp Single submitter
p.Arg601Gln Single submitter
p.Arg608Gln Single submitter
p.Arg608Gly Single submitter
p.Arg621Trp Single submitter
p.Arg623Gly Single submitter
p.Arg625Cys Single submitter
p.Arg83His Single submitter
p.Asn165Ile Single submitter
p.Asn377Lys Single submitter
p.Asp80Gly Single submitter
p.Cys461Gly Single submitter
p.Cys461Tyr Single submitter
p.Cys543Tyr Single submitter
p.Gln14His Single submitter
p.Gln226Arg Single submitter
p.Gln274His Single submitter
p.Gln432Glu Single submitter
p.Gln436Arg Single submitter
p.Gln485Lys Single submitter
p.Gln614Arg Single submitter
p.Gln632Pro Single submitter
p.Glu141Lys Single submitter
p.Glu241Lys Single submitter
p.Glu335Gly Single submitter
p.Glu335Lys Single submitter
p.Glu437Lys Single submitter
p.Glu440Lys Single submitter
p.Glu456Lys Single submitter
p.Glu471Gln Single submitter
p.Glu556Ala Single submitter
p.Glu557Gln Single submitter
p.Glu572Lys Single submitter
p.Glu587Gln Single submitter
p.Glu587Lys Single submitter
p.Glu618Lys Single submitter
p.Gly326Arg Single submitter
p.Gly478Ser Single submitter
p.Gly488Asp Single submitter
p.Gly488Ser Single submitter
p.Gly490Ser Single submitter
p.Gly525Arg Single submitter
p.Gly5Ala Single submitter
p.Gly638Glu Single submitter
p.Gly99Ser Single submitter
p.His166Tyr Single submitter
p.Ile540Thr Single submitter
p.Ile8Thr Single submitter
p.Ile8Val Single submitter
p.Leu15Phe Single submitter
p.Leu244Pro Single submitter
p.Leu308Ser Single submitter
p.Leu349Val Single submitter
p.Leu361Ile Single submitter
p.Leu373Val Single submitter
p.Leu391Met Single submitter
p.Leu39Val Single submitter
p.Leu400His Single submitter
p.Leu446Val Single submitter
p.Leu480Phe Single submitter
p.Leu480Val Single submitter
p.Leu500Val Single submitter
p.Leu553Ser Single submitter
p.Leu595Gln Single submitter
p.Lys146Asn Single submitter
p.Lys233Arg Single submitter
p.Lys284Asn Single submitter
p.Lys343Thr Single submitter
p.Lys43Glu Single submitter
p.Lys529Asn Single submitter
p.Lys529Glu Single submitter
p.Lys559Glu Single submitter
p.Lys559Thr Single submitter
p.Met374Leu Single submitter
p.Met536Ile Single submitter
p.Met547Ile Single submitter
p.Met547Thr Single submitter
p.Phe100Leu Single submitter
p.Phe190Leu Single submitter
p.Phe84Leu Single submitter
p.Phe93Leu Single submitter
p.Pro111Leu Single submitter
p.Pro142Ser Single submitter
p.Pro212Arg Single submitter
p.Pro257Ser Single submitter
p.Pro277Ser Single submitter
p.Pro290Thr Single submitter
p.Ser137Cys Single submitter
p.Ser52Cys Single submitter
p.Ser589Gly Single submitter
p.Thr10Ile Single submitter
p.Thr180Ile Single submitter
p.Thr472Arg Single submitter
p.Thr475Met Single submitter
p.Trp136Cys Single submitter
p.Tyr220His Single submitter
p.Tyr4Cys Single submitter
p.Val112Met Single submitter
p.Val11Met Single submitter
p.Val145Met Single submitter
p.Val208Gly Single submitter
p.Val209Met Single submitter
p.Val295Phe Single submitter
p.Val324Met Single submitter
p.Val481Gly Single submitter
p.Val498Ala Single submitter
p.Val50Phe Single submitter
p.Val65Met Single submitter
p.Val70Met Single submitter