CFAP126 — 27 ClinVar variants
All ClinVar germline CFAP126 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
2 Likely benign · 25 Uncertain significance
Full CFAP126 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP126 p.Arg84Cys Uncertain significance Single submitter
- CFAP126 p.Arg84His Uncertain significance Single submitter
- CFAP126 p.Asp156Asn Uncertain significance Single submitter
- CFAP126 p.Cys110Ser Uncertain significance Single submitter
- CFAP126 p.Gln172Glu Uncertain significance Single submitter
- CFAP126 p.Gly66Arg Uncertain significance Single submitter
- CFAP126 p.His118Gln Uncertain significance Single submitter
- CFAP126 p.Ile144Thr Uncertain significance Single submitter
- CFAP126 p.Leu19Pro Uncertain significance Single submitter
- CFAP126 p.Lys73Asn Uncertain significance Single submitter
- CFAP126 p.Pro171Leu Uncertain significance Single submitter
- CFAP126 p.Ser33Ala Uncertain significance Single submitter
- CFAP126 p.Thr28Ala Uncertain significance Single submitter
- CFAP126 p.Thr28Ile Uncertain significance Single submitter
- CFAP126 p.Val135Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CFAP126 p.Ala90Val Uncertain significance Single submitter
- CFAP126 p.Arg46Cys Uncertain significance Single submitter
- CFAP126 p.Arg46His Uncertain significance Single submitter
- CFAP126 p.Arg78Leu Likely benign Single submitter
- CFAP126 p.Gly115Arg Uncertain significance Single submitter
- CFAP126 p.Lys57Gln Uncertain significance Single submitter
- CFAP126 p.Pro76Thr Uncertain significance Single submitter
- CFAP126 p.Ser33Tyr Uncertain significance Single submitter
- CFAP126 p.Ser6Asn Uncertain significance Single submitter
- CFAP126 p.Thr85Lys Uncertain significance Single submitter
- CFAP126 p.Tyr5His Uncertain significance Single submitter
All CFAP126 variants
Likely benign 2
- p.Arg78Leu Single submitter ⚠
- p.Thr86Ala Single submitter
Uncertain significance 25
- p.Ala90Val Single submitter ⚠
- p.Arg46Cys Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg84Cys Single submitter ⚠
- p.Arg84His Single submitter ⚠
- p.Asp156Asn Single submitter ⚠
- p.Cys110Ser Single submitter ⚠
- p.Gln172Glu Single submitter ⚠
- p.Gly115Arg Single submitter ⚠
- p.Gly66Arg Single submitter ⚠
- p.His118Gln Single submitter ⚠
- p.Ile144Thr Single submitter ⚠
- p.Leu19Pro Single submitter ⚠
- p.Lys57Gln Single submitter ⚠
- p.Lys73Asn Single submitter ⚠
- p.Pro171Leu Single submitter ⚠
- p.Pro76Thr Single submitter ⚠
- p.Ser33Ala Single submitter ⚠
- p.Ser33Tyr Single submitter ⚠
- p.Ser6Asn Single submitter ⚠
- p.Thr28Ala Single submitter ⚠
- p.Thr28Ile Single submitter ⚠
- p.Thr85Lys Single submitter ⚠
- p.Tyr5His Single submitter ⚠
- p.Val135Ile Single submitter ⚠