CFAP70 — 74 ClinVar variants
All ClinVar germline CFAP70 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
1 Pathogenic · 3 Likely benign · 70 Uncertain significance
Full CFAP70 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP70 p.Ala433Pro Uncertain significance Single submitter
- CFAP70 p.Ala78Thr Uncertain significance Single submitter
- CFAP70 p.Ala7Pro Uncertain significance Single submitter
- CFAP70 p.Arg1082Trp Uncertain significance Single submitter
- CFAP70 p.Arg503Gln Uncertain significance Single submitter
- CFAP70 p.Asp474Glu Uncertain significance Single submitter
- CFAP70 p.Asp674Asn Uncertain significance Single submitter
- CFAP70 p.Cys377Tyr Uncertain significance Single submitter
- CFAP70 p.Cys874Tyr Uncertain significance Single submitter
- CFAP70 p.Gln611Glu Uncertain significance Single submitter
- CFAP70 p.Glu1112Lys Uncertain significance Single submitter
- CFAP70 p.Glu547Ala Uncertain significance Single submitter
- CFAP70 p.Gly189Glu Uncertain significance Single submitter
- CFAP70 p.Gly251Cys Uncertain significance Single submitter
- CFAP70 p.Gly429Glu Uncertain significance Single submitter
- CFAP70 p.Gly967Asp Uncertain significance Single submitter
- CFAP70 p.Gly970Ser Uncertain significance Single submitter
- CFAP70 p.His901Tyr Uncertain significance Single submitter
- CFAP70 p.Ile232Val Uncertain significance Single submitter
- CFAP70 p.Ile275Leu Uncertain significance Single submitter
- CFAP70 p.Ile436Met Uncertain significance Single submitter
- CFAP70 p.Ile601Val Uncertain significance Single submitter
- CFAP70 p.Ile810Val Uncertain significance Single submitter
- CFAP70 p.Leu1049Phe Uncertain significance Single submitter
- CFAP70 p.Lys211Thr Uncertain significance Single submitter
- CFAP70 p.Lys519Asn Uncertain significance Single submitter
- CFAP70 p.Lys687Glu Uncertain significance Single submitter
- CFAP70 p.Lys811Arg Uncertain significance Single submitter
- CFAP70 p.Lys868Thr Uncertain significance Single submitter
- CFAP70 p.Pro499Ser Uncertain significance Single submitter
- CFAP70 p.Pro68Ser Uncertain significance Single submitter
- CFAP70 p.Pro883Thr Uncertain significance Single submitter
- CFAP70 p.Ser55Asn Uncertain significance Single submitter
- CFAP70 p.Thr186Ala Uncertain significance Single submitter
- CFAP70 p.Thr682Ile Uncertain significance Single submitter
- CFAP70 p.Thr777Ala Uncertain significance Single submitter
- CFAP70 p.Thr782Ser Uncertain significance Single submitter
- CFAP70 p.Thr803Ala Uncertain significance Single submitter
- CFAP70 p.Thr803Ile Uncertain significance Single submitter
- CFAP70 p.Trp849Arg Uncertain significance Single submitter
- CFAP70 p.Tyr887Cys Uncertain significance Single submitter
- CFAP70 p.Tyr932Asp Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- CFAP70 p.Ala759Glu Uncertain significance Single submitter
- CFAP70 p.Ala948Val Uncertain significance Single submitter
- CFAP70 p.Ala955Ser Uncertain significance Single submitter
- CFAP70 p.Arg1045Trp Uncertain significance Single submitter
- CFAP70 p.Arg1082Gln Uncertain significance Single submitter
- CFAP70 p.Arg226Gln Uncertain significance Single submitter
- CFAP70 p.Arg286His Uncertain significance Single submitter
- CFAP70 p.Arg305Trp Uncertain significance Single submitter
- CFAP70 p.Arg358Gln Uncertain significance Single submitter
- CFAP70 p.Arg503Trp Uncertain significance Single submitter
- CFAP70 p.Asn648Ile Uncertain significance Single submitter
- CFAP70 p.Gln572Lys Uncertain significance Single submitter
- CFAP70 p.Gln689His Uncertain significance Single submitter
- CFAP70 p.Glu65Gly Uncertain significance Single submitter
- CFAP70 p.Gly805Arg Uncertain significance Single submitter
- CFAP70 p.His613Leu Uncertain significance Single submitter
- CFAP70 p.Leu42Val Uncertain significance Single submitter
- CFAP70 p.Leu477Phe Uncertain significance Single submitter
- CFAP70 p.Lys229Gln Uncertain significance Single submitter
- CFAP70 p.Lys277Glu Uncertain significance Single submitter
- CFAP70 p.Met958Ile Uncertain significance Single submitter
- CFAP70 p.Phe83Leu Uncertain significance Single submitter
- CFAP70 p.Pro1031Leu Uncertain significance Single submitter
- CFAP70 p.Pro113Leu Uncertain significance Single submitter
- CFAP70 p.Pro263Leu Uncertain significance Single submitter
- CFAP70 p.Pro320Leu Likely benign Single submitter
- CFAP70 p.Ser991Cys Uncertain significance Single submitter
- CFAP70 p.Thr589Ile Uncertain significance Single submitter
- CFAP70 p.Tyr675Cys Uncertain significance Single submitter
All CFAP70 variants
Pathogenic 1
- c.1723-1G>T No assertion criteria spermatogenic failure 41
Likely benign 3
- p.His372Tyr Multiple submitters
- p.Pro320Leu Single submitter ⚠
- p.Arg755Gln No assertion criteria CFAP70-related condition
Uncertain significance 70
- p.Ala433Pro Single submitter ⚠
- p.Ala759Glu Single submitter ⚠
- p.Ala78Thr Single submitter ⚠
- p.Ala7Pro Single submitter ⚠
- p.Ala948Val Single submitter ⚠
- p.Ala955Ser Single submitter ⚠
- p.Arg1045Trp Single submitter ⚠
- p.Arg1082Gln Single submitter ⚠
- p.Arg1082Trp Single submitter ⚠
- p.Arg226Gln Single submitter ⚠
- p.Arg286His Single submitter ⚠
- p.Arg305Trp Single submitter ⚠
- p.Arg358Gln Single submitter ⚠
- p.Arg503Gln Single submitter ⚠
- p.Arg503Trp Single submitter ⚠
- p.Asn648Ile Single submitter ⚠
- p.Asp474Glu Single submitter ⚠
- p.Asp674Asn Single submitter ⚠
- p.Cys377Tyr Single submitter ⚠
- p.Cys874Tyr Single submitter ⚠
- p.Gln572Lys Single submitter ⚠
- p.Gln611Glu Single submitter ⚠
- p.Gln689His Single submitter ⚠
- p.Glu1112Lys Single submitter ⚠
- p.Glu547Ala Single submitter ⚠
- p.Glu65Gly Single submitter ⚠
- p.Gly189Glu Single submitter ⚠
- p.Gly251Cys Single submitter ⚠
- p.Gly429Glu Single submitter ⚠
- p.Gly805Arg Single submitter ⚠
- p.Gly967Asp Single submitter ⚠
- p.Gly970Ser Single submitter ⚠
- p.His613Leu Single submitter ⚠
- p.His901Tyr Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Ile275Leu Single submitter ⚠
- p.Ile436Met Single submitter ⚠
- p.Ile601Val Single submitter ⚠
- p.Ile810Val Single submitter ⚠
- p.Leu1049Phe Single submitter ⚠
- p.Leu42Val Single submitter ⚠
- p.Leu477Phe Single submitter ⚠
- p.Lys211Thr Single submitter ⚠
- p.Lys229Gln Single submitter ⚠
- p.Lys277Glu Single submitter ⚠
- p.Lys519Asn Single submitter ⚠
- p.Lys687Glu Single submitter ⚠
- p.Lys811Arg Single submitter ⚠
- p.Lys868Thr Single submitter ⚠
- p.Met958Ile Single submitter ⚠
- p.Phe83Leu Single submitter ⚠
- p.Pro1031Leu Single submitter ⚠
- p.Pro113Leu Single submitter ⚠
- p.Pro263Leu Single submitter ⚠
- p.Pro499Ser Single submitter ⚠
- p.Pro68Ser Single submitter ⚠
- p.Pro883Thr Single submitter ⚠
- p.Ser55Asn Single submitter ⚠
- p.Ser991Cys Single submitter ⚠
- p.Thr186Ala Single submitter ⚠
- p.Thr589Ile Single submitter ⚠
- p.Thr682Ile Single submitter ⚠
- p.Thr777Ala Single submitter ⚠
- p.Thr782Ser Single submitter ⚠
- p.Thr803Ala Single submitter ⚠
- p.Thr803Ile Single submitter ⚠
- p.Trp849Arg Single submitter ⚠
- p.Tyr675Cys Single submitter ⚠
- p.Tyr887Cys Single submitter ⚠
- p.Tyr932Asp Single submitter ⚠