CFAP20 — 21 ClinVar variants
All ClinVar germline CFAP20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
5 Pathogenic/Likely pathogenic · 16 Uncertain significance
Full CFAP20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP20 p.Arg101Cys Uncertain significance Single submitter
- CFAP20 p.Arg113Gln Uncertain significance Single submitter
-
CFAP20 p.Arg113Trp
Uncertain significance
Single submitter
Rod-cone dystrophy
- CFAP20 p.Arg161Ser Uncertain significance Single submitter
- CFAP20 p.Asp39Asn Uncertain significance Single submitter
- CFAP20 p.Gln92Arg Uncertain significance Single submitter
- CFAP20 p.Met121Ile Uncertain significance Single submitter
- CFAP20 p.Met121Thr Uncertain significance Single submitter
- CFAP20 p.Pro21Arg Uncertain significance Single submitter
- CFAP20 p.Pro21Thr Uncertain significance Single submitter
- CFAP20 p.Tyr172His Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CFAP20 variants
Pathogenic/Likely pathogenic 5
- c.164+1G>A No assertion criteria RETINITIS PIGMENTOSA 107
- p.Arg102His No assertion criteria RETINITIS PIGMENTOSA 107
- p.Arg153Gly No assertion criteria RETINITIS PIGMENTOSA 107
- p.Gln133fs No assertion criteria RETINITIS PIGMENTOSA 107
- p.Tyr86Cys No assertion criteria RETINITIS PIGMENTOSA 107
Uncertain significance 16
- p.Arg101Cys Single submitter ⚠
- p.Arg113Gln Single submitter ⚠
- p.Arg113Trp Single submitter Rod-cone dystrophy ⚠
- p.Arg161Ser Single submitter ⚠
- p.Asp39Asn Single submitter ⚠
- p.Gln92Arg Single submitter ⚠
- p.Ile49Met Single submitter ⚠
- p.Leu83Val Single submitter ⚠
- p.Met121Ile Single submitter ⚠
- p.Met121Thr Single submitter ⚠
- p.Pro21Arg Single submitter ⚠
- p.Pro21Thr Single submitter ⚠
- p.Thr68Met Single submitter ⚠
- p.Tyr172His Single submitter ⚠
- p.Tyr58His Single submitter ⚠
- p.Val54Ile Single submitter ⚠