CFAP119 — 69 ClinVar variants
All ClinVar germline CFAP119 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
2 Benign · 13 Likely benign · 54 Uncertain significance
Full CFAP119 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP119 p.Ala127Thr Uncertain significance Single submitter
- CFAP119 p.Ala53Val Uncertain significance Single submitter
- CFAP119 p.Arg32His Uncertain significance Single submitter
- CFAP119 p.Arg43His Uncertain significance Single submitter
- CFAP119 p.Asp83Gly Uncertain significance Single submitter
- CFAP119 p.Cys166Tyr Uncertain significance Single submitter
- CFAP119 p.Gln193His Uncertain significance Single submitter
- CFAP119 p.Gln294Arg Uncertain significance Single submitter
- CFAP119 p.Glu19Gly Uncertain significance Single submitter
- CFAP119 p.Glu23Lys Uncertain significance Single submitter
- CFAP119 p.Glu263Gln Uncertain significance Single submitter
- CFAP119 p.Gly63Glu Uncertain significance Single submitter
- CFAP119 p.His152Tyr Uncertain significance Single submitter
- CFAP119 p.His85Tyr Uncertain significance Single submitter
- CFAP119 p.Ile156Thr Uncertain significance Single submitter
- CFAP119 p.Lys248Thr Uncertain significance Single submitter
- CFAP119 p.Met229Val Uncertain significance Single submitter
- CFAP119 p.Met250Leu Uncertain significance Single submitter
- CFAP119 p.Met250Thr Uncertain significance Single submitter
- CFAP119 p.Pro323Ala Uncertain significance Single submitter
- CFAP119 p.Pro62Arg Uncertain significance Single submitter
- CFAP119 p.Ser172Arg Uncertain significance Single submitter
- CFAP119 p.Trp237Leu Uncertain significance Single submitter
- CFAP119 p.Tyr167Asn Uncertain significance Single submitter
- CFAP119 p.Val163Met Uncertain significance Single submitter
- CFAP119 p.Val215Ile Uncertain significance Single submitter
- CFAP119 p.Val265Ala Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- CFAP119 p.Ala118Thr Uncertain significance Single submitter
- CFAP119 p.Ala143Val Uncertain significance Single submitter
- CFAP119 p.Ala196Ser Uncertain significance Single submitter
- CFAP119 p.Ala196Val Uncertain significance Single submitter
- CFAP119 p.Arg132Cys Uncertain significance Single submitter
- CFAP119 p.Arg181Trp Uncertain significance Single submitter
- CFAP119 p.Arg207His Uncertain significance Single submitter
- CFAP119 p.Arg4His Uncertain significance Single submitter
- CFAP119 p.Cys77Phe Uncertain significance Single submitter
- CFAP119 p.Glu246Ala Likely benign Single submitter
- CFAP119 p.Glu263Asp Uncertain significance Single submitter
- CFAP119 p.Glu271Gly Uncertain significance Single submitter
- CFAP119 p.Glu291Lys Uncertain significance Single submitter
- CFAP119 p.Glu305Lys Uncertain significance Single submitter
- CFAP119 p.Leu21His Uncertain significance Single submitter
- CFAP119 p.Leu21Ile Uncertain significance Single submitter
- CFAP119 p.Met98Ile Uncertain significance Single submitter
- CFAP119 p.Phe124Leu Uncertain significance Single submitter
- CFAP119 p.Ser304Gly Uncertain significance Single submitter
- CFAP119 p.Ser310Gly Uncertain significance Single submitter
- CFAP119 p.Thr141Met Uncertain significance Single submitter
- CFAP119 p.Thr171Ile Uncertain significance Single submitter
- CFAP119 p.Thr204Ala Uncertain significance Single submitter
- CFAP119 p.Thr242Met Likely benign Single submitter
- CFAP119 p.Thr256Ile Uncertain significance Single submitter
- CFAP119 p.Thr284Ile Uncertain significance Single submitter
- CFAP119 p.Val201Met Uncertain significance Single submitter
- CFAP119 p.Val220Leu Uncertain significance Single submitter
- CFAP119 p.Val286Ala Uncertain significance Single submitter
All CFAP119 variants
Benign 2
- p.Arg279Gln Single submitter
- p.Ile186= Single submitter
Likely benign 13
- p.Ala56Val Single submitter
- p.Arg300Gln Single submitter
- p.Arg317Gln Single submitter
- p.Glu100Gln Single submitter
- p.Glu246Ala Single submitter ⚠
- p.Glu260Gln Single submitter
- p.His20Gln Single submitter
- p.His36Arg Single submitter
- p.His36Asp Single submitter
- p.Lys283= Single submitter
- p.Thr242Met Single submitter ⚠
- p.Thr313Ala Single submitter
- p.Val84Ile Single submitter
Uncertain significance 54
- p.Ala118Thr Single submitter ⚠
- p.Ala127Thr Single submitter ⚠
- p.Ala143Val Single submitter ⚠
- p.Ala196Ser Single submitter ⚠
- p.Ala196Val Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Arg132Cys Single submitter ⚠
- p.Arg181Trp Single submitter ⚠
- p.Arg207His Single submitter ⚠
- p.Arg32His Single submitter ⚠
- p.Arg43His Single submitter ⚠
- p.Arg4His Single submitter ⚠
- p.Asp83Gly Single submitter ⚠
- p.Cys166Tyr Single submitter ⚠
- p.Cys77Phe Single submitter ⚠
- p.Gln193His Single submitter ⚠
- p.Gln294Arg Single submitter ⚠
- p.Glu19Gly Single submitter ⚠
- p.Glu23Lys Single submitter ⚠
- p.Glu263Asp Single submitter ⚠
- p.Glu263Gln Single submitter ⚠
- p.Glu271Gly Single submitter ⚠
- p.Glu291Lys Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Gly63Glu Single submitter ⚠
- p.His152Tyr Single submitter ⚠
- p.His85Tyr Single submitter ⚠
- p.Ile156Thr Single submitter ⚠
- p.Leu21His Single submitter ⚠
- p.Leu21Ile Single submitter ⚠
- p.Lys248Thr Single submitter ⚠
- p.Met229Val Single submitter ⚠
- p.Met250Leu Single submitter ⚠
- p.Met250Thr Single submitter ⚠
- p.Met98Ile Single submitter ⚠
- p.Phe124Leu Single submitter ⚠
- p.Pro323Ala Single submitter ⚠
- p.Pro62Arg Single submitter ⚠
- p.Ser172Arg Single submitter ⚠
- p.Ser304Gly Single submitter ⚠
- p.Ser310Gly Single submitter ⚠
- p.Thr141Met Single submitter ⚠
- p.Thr171Ile Single submitter ⚠
- p.Thr204Ala Single submitter ⚠
- p.Thr256Ile Single submitter ⚠
- p.Thr284Ile Single submitter ⚠
- p.Trp237Leu Single submitter ⚠
- p.Tyr167Asn Single submitter ⚠
- p.Val163Met Single submitter ⚠
- p.Val201Met Single submitter ⚠
- p.Val215Ile Single submitter ⚠
- p.Val220Leu Single submitter ⚠
- p.Val265Ala Single submitter ⚠
- p.Val286Ala Single submitter ⚠