CFAP45 — 122 ClinVar variants
All ClinVar germline CFAP45 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
4 Pathogenic · 1 Likely pathogenic · 1 Benign · 9 Likely benign · 107 Uncertain significance
Full CFAP45 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP45 p.Ala69Thr Uncertain significance Single submitter
- CFAP45 p.Ala6Ser Uncertain significance Single submitter
- CFAP45 p.Arg513Leu Uncertain significance Single submitter
- CFAP45 p.Arg58Gln Uncertain significance Single submitter
- CFAP45 p.Arg84Gln Uncertain significance Single submitter
- CFAP45 p.Asn175Asp Uncertain significance Single submitter
- CFAP45 p.Asn322Tyr Uncertain significance Single submitter
- CFAP45 p.Asn543Ser Uncertain significance Single submitter
- CFAP45 p.Asp35Asn Uncertain significance Single submitter
- CFAP45 p.Asp399Glu Uncertain significance Single submitter
- CFAP45 p.Asp515Asn Uncertain significance Single submitter
- CFAP45 p.Asp51Asn Uncertain significance Single submitter
- CFAP45 p.Gln49Arg Uncertain significance Single submitter
- CFAP45 p.Gln80His Uncertain significance Single submitter
- CFAP45 p.Glu100Gln Uncertain significance Single submitter
- CFAP45 p.Glu396Lys Uncertain significance Single submitter
- CFAP45 p.His61Asn Uncertain significance Single submitter
- CFAP45 p.Ile197Val Uncertain significance Single submitter
- CFAP45 p.Ile42Thr Uncertain significance Single submitter
- CFAP45 p.Ile514Met Uncertain significance Single submitter
- CFAP45 p.Leu298Ile Uncertain significance Single submitter
- CFAP45 p.Leu57Arg Uncertain significance Single submitter
- CFAP45 p.Leu57Phe Uncertain significance Single submitter
- CFAP45 p.Lys150Thr Uncertain significance Single submitter
- CFAP45 p.Lys152Glu Uncertain significance Single submitter
- CFAP45 p.Met185Leu Uncertain significance Single submitter
- CFAP45 p.Met341Ile Uncertain significance Single submitter
- CFAP45 p.Pro53Thr Uncertain significance Single submitter
- CFAP45 p.Ser163Gly Uncertain significance Single submitter
- CFAP45 p.Ser273Leu Uncertain significance Single submitter
- CFAP45 p.Ser31Arg Uncertain significance Single submitter
- CFAP45 p.Ser50Asn Uncertain significance Single submitter
- CFAP45 p.Thr416Arg Uncertain significance Single submitter
- CFAP45 p.Thr66Asn Uncertain significance Single submitter
- CFAP45 p.Val428Leu Uncertain significance Single submitter
- CFAP45 p.Val482Met Uncertain significance Single submitter
Predictors split 75
The independent predictors disagree with each other — read with care.
- CFAP45 p.Asp222Gly Benign Multiple submitters
- CFAP45 p.Asp320Tyr Uncertain significance Multiple submitters
-
CFAP45 p.Lys518Glu
Uncertain significance
Multiple submitters
heterotaxy, visceral, 11, autosomal, with male infertility
- CFAP45 p.Ala15Pro Uncertain significance Single submitter
- CFAP45 p.Ala370Pro Uncertain significance Single submitter
- CFAP45 p.Ala436Val Uncertain significance Single submitter
- CFAP45 p.Arg127Ser Uncertain significance Single submitter
- CFAP45 p.Arg172Gln Uncertain significance Single submitter
- CFAP45 p.Arg184Gln Uncertain significance Single submitter
- CFAP45 p.Arg184Trp Uncertain significance Single submitter
- CFAP45 p.Arg207Trp Uncertain significance Single submitter
- CFAP45 p.Arg227Gln Likely benign Single submitter
- CFAP45 p.Arg227Trp Uncertain significance Single submitter
- CFAP45 p.Arg236Gln Uncertain significance Single submitter
- CFAP45 p.Arg24Cys Uncertain significance Single submitter
- CFAP45 p.Arg259Trp Uncertain significance Single submitter
- CFAP45 p.Arg272Gln Uncertain significance Single submitter
- CFAP45 p.Arg279Gln Uncertain significance Single submitter
- CFAP45 p.Arg317Cys Uncertain significance Single submitter
- CFAP45 p.Arg362Gln Uncertain significance Single submitter
- CFAP45 p.Arg371Cys Uncertain significance Single submitter
- CFAP45 p.Arg371Leu Uncertain significance Single submitter
- CFAP45 p.Arg390Trp Uncertain significance Single submitter
- CFAP45 p.Arg393Cys Uncertain significance Single submitter
- CFAP45 p.Arg393His Uncertain significance Single submitter
- CFAP45 p.Arg393Ser Uncertain significance Single submitter
- CFAP45 p.Arg404Gly Uncertain significance Single submitter
- CFAP45 p.Arg411Gln Likely benign Single submitter
- CFAP45 p.Arg421Gln Uncertain significance Single submitter
- CFAP45 p.Arg424Gln Uncertain significance Single submitter
- CFAP45 p.Arg441Trp Uncertain significance Single submitter
- CFAP45 p.Arg443Gly Uncertain significance Single submitter
- CFAP45 p.Arg451Trp Uncertain significance Single submitter
- CFAP45 p.Arg461Trp Uncertain significance Single submitter
- CFAP45 p.Arg471His Uncertain significance Single submitter
- CFAP45 p.Arg479Trp Uncertain significance Single submitter
- CFAP45 p.Arg480Cys Uncertain significance Single submitter
- CFAP45 p.Arg480Pro Uncertain significance Single submitter
- CFAP45 p.Arg483Ser Uncertain significance Single submitter
- CFAP45 p.Arg493Gly Uncertain significance Single submitter
- CFAP45 p.Arg501Gln Uncertain significance Single submitter
- CFAP45 p.Arg502His Uncertain significance Single submitter
- CFAP45 p.Arg511Cys Uncertain significance Single submitter
- CFAP45 p.Arg513Cys Uncertain significance Single submitter
- CFAP45 p.Arg513His Uncertain significance Single submitter
- CFAP45 p.Arg519Trp Uncertain significance Single submitter
- CFAP45 p.Arg540Cys Uncertain significance Single submitter
- CFAP45 p.Arg84Trp Uncertain significance Single submitter
- CFAP45 p.Asn319Asp Uncertain significance Single submitter
- CFAP45 p.Asp337Asn Uncertain significance Single submitter
- CFAP45 p.Gln338Arg Uncertain significance Single submitter
- CFAP45 p.Gln453Arg Uncertain significance Single submitter
- CFAP45 p.Gln456His Uncertain significance Single submitter
- CFAP45 p.Gln508His Uncertain significance Single submitter
- CFAP45 p.Glu188Gly Uncertain significance Single submitter
- CFAP45 p.Glu189Gln Uncertain significance Single submitter
- CFAP45 p.Glu357Asp Uncertain significance Single submitter
- CFAP45 p.Glu364Asp Uncertain significance Single submitter
- CFAP45 p.Glu401Asp Uncertain significance Single submitter
- CFAP45 p.Glu401Gly Uncertain significance Single submitter
- CFAP45 p.Glu419Lys Likely benign Single submitter
- CFAP45 p.Glu447Gln Uncertain significance Single submitter
- CFAP45 p.Glu499Gly Uncertain significance Single submitter
- CFAP45 p.His474Leu Uncertain significance Single submitter
- CFAP45 p.Leu124Pro Uncertain significance Single submitter
- CFAP45 p.Lys316Asn Uncertain significance Single submitter
- CFAP45 p.Lys60Met Uncertain significance Single submitter
- CFAP45 p.Met149Thr Uncertain significance Single submitter
- CFAP45 p.Met194Ile Uncertain significance Single submitter
- CFAP45 p.Met290Thr Uncertain significance Single submitter
- CFAP45 p.Met414Thr Uncertain significance Single submitter
- CFAP45 p.Ser116Phe Uncertain significance Single submitter
- CFAP45 p.Trp402Leu Uncertain significance Single submitter
- CFAP45 p.Val340Glu Uncertain significance Single submitter
- CFAP45 p.Val428Gly Uncertain significance Single submitter
All CFAP45 variants
Pathogenic 4
- p.Gln491fs Single submitter heterotaxy, visceral, 11, autosomal, with male infertility
- p.Arg303Ter No assertion criteria heterotaxy, visceral, 11, autosomal, with male infertility
- p.Gln151fs No assertion criteria heterotaxy, visceral, 11, autosomal, with male infertility
- p.Gln241Ter No assertion criteria heterotaxy, visceral, 11, autosomal, with male infertility
Likely pathogenic 1
- p.Arg350Ter Single submitter heterotaxy, visceral, 11, autosomal, with male infertility
Benign 1
- p.Asp222Gly Multiple submitters ⚠
Likely benign 9
- p.Ala507= Single submitter
- p.Arg227Gln Single submitter ⚠
- p.Arg390= Single submitter
- p.Arg411Gln Single submitter ⚠
- p.Arg74His Single submitter
- p.Asp442= Single submitter
- p.Gln64Arg Single submitter
- p.Glu419Lys Single submitter ⚠
- p.Ser116= Single submitter
Uncertain significance 107
- p.Asp320Tyr Multiple submitters ⚠
- p.Lys518Glu Multiple submitters heterotaxy, visceral, 11, autosomal, with male infertility ⚠
- p.Ala15Pro Single submitter ⚠
- p.Ala370Pro Single submitter ⚠
- p.Ala436Val Single submitter ⚠
- p.Ala69Thr Single submitter ⚠
- p.Ala6Ser Single submitter ⚠
- p.Arg127Ser Single submitter ⚠
- p.Arg172Gln Single submitter ⚠
- p.Arg184Gln Single submitter ⚠
- p.Arg184Trp Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg227Trp Single submitter ⚠
- p.Arg236Gln Single submitter ⚠
- p.Arg24Cys Single submitter ⚠
- p.Arg259Trp Single submitter ⚠
- p.Arg272Gln Single submitter ⚠
- p.Arg279Gln Single submitter ⚠
- p.Arg317Cys Single submitter ⚠
- p.Arg362Gln Single submitter ⚠
- p.Arg371Cys Single submitter ⚠
- p.Arg371Leu Single submitter ⚠
- p.Arg390Trp Single submitter ⚠
- p.Arg393Cys Single submitter ⚠
- p.Arg393His Single submitter ⚠
- p.Arg393Ser Single submitter ⚠
- p.Arg404Gly Single submitter ⚠
- p.Arg421Gln Single submitter ⚠
- p.Arg424Gln Single submitter ⚠
- p.Arg441Trp Single submitter ⚠
- p.Arg443Gly Single submitter ⚠
- p.Arg451Trp Single submitter ⚠
- p.Arg461Trp Single submitter ⚠
- p.Arg471His Single submitter ⚠
- p.Arg479Trp Single submitter ⚠
- p.Arg480Cys Single submitter ⚠
- p.Arg480Pro Single submitter ⚠
- p.Arg483Ser Single submitter ⚠
- p.Arg493Gly Single submitter ⚠
- p.Arg501Gln Single submitter ⚠
- p.Arg502His Single submitter ⚠
- p.Arg511Cys Single submitter ⚠
- p.Arg513Cys Single submitter ⚠
- p.Arg513His Single submitter ⚠
- p.Arg513Leu Single submitter ⚠
- p.Arg519Trp Single submitter ⚠
- p.Arg540Cys Single submitter ⚠
- p.Arg58Gln Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Arg84Trp Single submitter ⚠
- p.Asn175Asp Single submitter ⚠
- p.Asn319Asp Single submitter ⚠
- p.Asn322Tyr Single submitter ⚠
- p.Asn543Ser Single submitter ⚠
- p.Asp337Asn Single submitter ⚠
- p.Asp35Asn Single submitter ⚠
- p.Asp399Glu Single submitter ⚠
- p.Asp515Asn Single submitter ⚠
- p.Asp51Asn Single submitter ⚠
- p.Gln338Arg Single submitter ⚠
- p.Gln453Arg Single submitter ⚠
- p.Gln456His Single submitter ⚠
- p.Gln49Arg Single submitter ⚠
- p.Gln508His Single submitter ⚠
- p.Gln80His Single submitter ⚠
- p.Glu100Gln Single submitter ⚠
- p.Glu188Gly Single submitter ⚠
- p.Glu189Gln Single submitter ⚠
- p.Glu357Asp Single submitter ⚠
- p.Glu364Asp Single submitter ⚠
- p.Glu396Lys Single submitter ⚠
- p.Glu401Asp Single submitter ⚠
- p.Glu401Gly Single submitter ⚠
- p.Glu447Gln Single submitter ⚠
- p.Glu499Gly Single submitter ⚠
- p.His474Leu Single submitter ⚠
- p.His61Asn Single submitter ⚠
- p.Ile197Val Single submitter ⚠
- p.Ile42Thr Single submitter ⚠
- p.Ile514Met Single submitter ⚠
- p.Leu124Pro Single submitter ⚠
- p.Leu298Ile Single submitter ⚠
- p.Leu57Arg Single submitter ⚠
- p.Leu57Phe Single submitter ⚠
- p.Lys150Thr Single submitter ⚠
- p.Lys152Glu Single submitter ⚠
- p.Lys316Asn Single submitter ⚠
- p.Lys60Met Single submitter ⚠
- p.Met149Thr Single submitter ⚠
- p.Met185Leu Single submitter ⚠
- p.Met194Ile Single submitter ⚠
- p.Met290Thr Single submitter ⚠
- p.Met341Ile Single submitter ⚠
- p.Met414Thr Single submitter ⚠
- p.Pro53Thr Single submitter ⚠
- p.Ser116Phe Single submitter ⚠
- p.Ser163Gly Single submitter ⚠
- p.Ser273Leu Single submitter ⚠
- p.Ser31Arg Single submitter ⚠
- p.Ser50Asn Single submitter ⚠
- p.Thr416Arg Single submitter ⚠
- p.Thr66Asn Single submitter ⚠
- p.Trp402Leu Single submitter ⚠
- p.Val340Glu Single submitter ⚠
- p.Val428Gly Single submitter ⚠
- p.Val428Leu Single submitter ⚠
- p.Val482Met Single submitter ⚠