CFAP74 — 148 ClinVar variants
All ClinVar germline CFAP74 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →
5 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 1 Conflicting · 3 Benign · 18 Likely benign · 113 Uncertain significance
Full CFAP74 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 121
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 vs ClinVar 6
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CFAP74 p.Arg218Trp
Pathogenic
No assertion criteria
ciliary dyskinesia, primary, 49, without situs inversus
-
CFAP74 p.Arg818Trp
Likely pathogenic
No assertion criteria
CFAP74-related disorder
-
CFAP74 p.Asp1178Asn
Pathogenic
No assertion criteria
ciliary dyskinesia, primary, 49, without situs inversus
-
CFAP74 p.Gly328Asp
Pathogenic
No assertion criteria
ciliary dyskinesia, primary, 49, without situs inversus
-
CFAP74 p.Ser1444Thr
Pathogenic
No assertion criteria
ciliary dyskinesia, primary, 49, without situs inversus
-
CFAP74 p.Val1015Ala
Likely pathogenic
No assertion criteria
CFAP74-related disorder
Predictors lean, ClinVar uncertain 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP74 p.Ala202Thr Uncertain significance Single submitter
- CFAP74 p.Ala385Val Uncertain significance Single submitter
- CFAP74 p.Ala704Glu Uncertain significance Single submitter
- CFAP74 p.Arg184Gln Uncertain significance Single submitter
- CFAP74 p.Arg184Trp Uncertain significance Single submitter
- CFAP74 p.Arg188Leu Uncertain significance Single submitter
- CFAP74 p.Arg197Gln Uncertain significance Single submitter
- CFAP74 p.Arg254Gln Uncertain significance Single submitter
- CFAP74 p.Arg340Gln Uncertain significance Single submitter
- CFAP74 p.Arg388Gln Uncertain significance Single submitter
- CFAP74 p.Arg427Gln Uncertain significance Single submitter
- CFAP74 p.Arg513His Uncertain significance Single submitter
- CFAP74 p.Arg638Gln Uncertain significance Single submitter
- CFAP74 p.Arg78Gln Uncertain significance Single submitter
- CFAP74 p.Asp113Asn Uncertain significance Single submitter
- CFAP74 p.Asp154His Uncertain significance Single submitter
- CFAP74 p.Cys36Tyr Uncertain significance Single submitter
- CFAP74 p.Gln199Arg Uncertain significance Single submitter
- CFAP74 p.Glu177Asp Uncertain significance Single submitter
- CFAP74 p.Glu190Gln Uncertain significance Single submitter
- CFAP74 p.Glu267Lys Uncertain significance Single submitter
- CFAP74 p.Glu276Gln Uncertain significance Single submitter
- CFAP74 p.Glu373Lys Uncertain significance Single submitter
- CFAP74 p.Glu604Lys Uncertain significance Single submitter
- CFAP74 p.Glu697Ala Uncertain significance Single submitter
- CFAP74 p.Gly235Arg Uncertain significance Single submitter
- CFAP74 p.Gly424Arg Uncertain significance Single submitter
- CFAP74 p.Gly457Glu Uncertain significance Single submitter
- CFAP74 p.Gly479Asp Uncertain significance Single submitter
- CFAP74 p.Gly570Asp Uncertain significance Single submitter
- CFAP74 p.Gly575Arg Uncertain significance Single submitter
- CFAP74 p.His238Asn Uncertain significance Single submitter
- CFAP74 p.Ile173Met Uncertain significance Single submitter
- CFAP74 p.Leu1099Arg Uncertain significance Single submitter
- CFAP74 p.Leu180Phe Uncertain significance Single submitter
- CFAP74 p.Leu551Val Uncertain significance Single submitter
- CFAP74 p.Leu712Arg Uncertain significance Single submitter
- CFAP74 p.Lys309Thr Uncertain significance Single submitter
- CFAP74 p.Lys394Asn Uncertain significance Single submitter
- CFAP74 p.Lys394Met Uncertain significance Single submitter
- CFAP74 p.Lys610Asn Uncertain significance Single submitter
- CFAP74 p.Lys681Glu Uncertain significance Single submitter
- CFAP74 p.Phe527Tyr Uncertain significance Single submitter
- CFAP74 p.Phe566Ser Uncertain significance Single submitter
- CFAP74 p.Pro30Leu Uncertain significance Single submitter
- CFAP74 p.Pro381Ser Uncertain significance Single submitter
- CFAP74 p.Pro425Leu Uncertain significance Single submitter
- CFAP74 p.Pro519Leu Uncertain significance Single submitter
- CFAP74 p.Pro9Arg Uncertain significance Single submitter
- CFAP74 p.Ser142Phe Uncertain significance Single submitter
- CFAP74 p.Ser577Pro Uncertain significance Single submitter
- CFAP74 p.Thr67Ser Uncertain significance Single submitter
- CFAP74 p.Val1351Ile Uncertain significance Single submitter
- CFAP74 p.Val141Met Uncertain significance Single submitter
- CFAP74 p.Val336Ile Uncertain significance Single submitter
- CFAP74 p.Val500Ala Uncertain significance Single submitter
- CFAP74 p.Val631Met Uncertain significance Single submitter
- CFAP74 p.Val645Ile Uncertain significance Single submitter
- CFAP74 p.Val645Phe Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
- CFAP74 p.Ala104Thr Uncertain significance Single submitter
- CFAP74 p.Ala346Thr Uncertain significance Single submitter
- CFAP74 p.Arg109Trp Uncertain significance Single submitter
- CFAP74 p.Arg137His Uncertain significance Single submitter
- CFAP74 p.Arg144Cys Uncertain significance Single submitter
- CFAP74 p.Arg144His Uncertain significance Single submitter
- CFAP74 p.Arg144Leu Uncertain significance Single submitter
- CFAP74 p.Arg188Cys Uncertain significance Single submitter
- CFAP74 p.Arg188His Uncertain significance Single submitter
- CFAP74 p.Arg201Cys Uncertain significance Single submitter
- CFAP74 p.Arg220Pro Uncertain significance Single submitter
- CFAP74 p.Arg237Gly Conflicting Single submitter
- CFAP74 p.Arg296Trp Uncertain significance Single submitter
- CFAP74 p.Arg300Trp Uncertain significance Single submitter
- CFAP74 p.Arg307Cys Likely benign Single submitter
- CFAP74 p.Arg339Cys Likely benign Single submitter
- CFAP74 p.Arg340Trp Uncertain significance Single submitter
- CFAP74 p.Arg341Cys Uncertain significance Single submitter
- CFAP74 p.Arg341Pro Uncertain significance Single submitter
- CFAP74 p.Arg365Leu Uncertain significance Single submitter
- CFAP74 p.Arg388Trp Uncertain significance Single submitter
- CFAP74 p.Arg427Trp Uncertain significance Single submitter
- CFAP74 p.Arg496Leu Uncertain significance Single submitter
- CFAP74 p.Asp16His Uncertain significance Single submitter
- CFAP74 p.Asp416Tyr Uncertain significance Single submitter
- CFAP74 p.Asp621Asn Uncertain significance Single submitter
- CFAP74 p.Gln503Leu Uncertain significance Single submitter
- CFAP74 p.Glu152Lys Uncertain significance Single submitter
- CFAP74 p.Glu204Asp Likely benign Single submitter
- CFAP74 p.Glu267Val Uncertain significance Single submitter
- CFAP74 p.Glu276Lys Uncertain significance Single submitter
- CFAP74 p.Glu370Asp Uncertain significance Single submitter
- CFAP74 p.Glu593Asp Uncertain significance Single submitter
- CFAP74 p.Glu623Lys Uncertain significance Single submitter
- CFAP74 p.Glu713Lys Uncertain significance Single submitter
- CFAP74 p.Ile292Asn Uncertain significance Single submitter
- CFAP74 p.Ile537Met Uncertain significance Single submitter
- CFAP74 p.Ile625Thr Uncertain significance Single submitter
- CFAP74 p.Leu221Pro Uncertain significance Single submitter
- CFAP74 p.Leu428Phe Uncertain significance Single submitter
- CFAP74 p.Leu522His Uncertain significance Single submitter
- CFAP74 p.Leu93Phe Uncertain significance Single submitter
- CFAP74 p.Lys348Asn Uncertain significance Single submitter
- CFAP74 p.Lys550Gln Uncertain significance Single submitter
- CFAP74 p.Met282Ile Uncertain significance Single submitter
- CFAP74 p.Phe255Val Uncertain significance Single submitter
- CFAP74 p.Phe654Leu Uncertain significance Single submitter
- CFAP74 p.Pro569Thr Uncertain significance Single submitter
- CFAP74 p.Ser629Gly Uncertain significance Single submitter
- CFAP74 p.Thr412Met Likely benign Single submitter
- CFAP74 p.Thr538Met Uncertain significance Single submitter
- CFAP74 p.Thr543Ala Uncertain significance Single submitter
- CFAP74 p.Thr636Met Uncertain significance Single submitter
- CFAP74 p.Tyr463Cys Uncertain significance Single submitter
- CFAP74 p.Val532Met Uncertain significance Single submitter
-
CFAP74 p.Val768Gly
Uncertain significance
Single submitter
ciliary dyskinesia, primary, 49, without situs inversus
All CFAP74 variants
Pathogenic 5
- p.Arg218Trp No assertion criteria ciliary dyskinesia, primary, 49, without situs inversus ⚠
- p.Asp1178Asn No assertion criteria ciliary dyskinesia, primary, 49, without situs inversus ⚠
- p.Gln303fs No assertion criteria ciliary dyskinesia, primary, 49, without situs inversus
- p.Gly328Asp No assertion criteria ciliary dyskinesia, primary, 49, without situs inversus ⚠
- p.Ser1444Thr No assertion criteria ciliary dyskinesia, primary, 49, without situs inversus ⚠
Pathogenic/Likely pathogenic 1
- p.Phe1461fs Multiple submitters ciliary dyskinesia, primary, 49, without situs inversus
Likely pathogenic 7
- p.Leu975fs Multiple submitters ciliary dyskinesia, primary, 49, without situs inversus
- p.Arg280Ter Single submitter ciliary dyskinesia, primary, 49, without situs inversus
- p.Gly570fs Single submitter ciliary dyskinesia, primary, 49, without situs inversus
- p.Leu572fs Single submitter ciliary dyskinesia, primary, 49, without situs inversus
- p.Met278fs Single submitter ciliary dyskinesia, primary, 49, without situs inversus
- p.Arg818Trp No assertion criteria CFAP74-related disorder ⚠
- p.Val1015Ala No assertion criteria CFAP74-related disorder ⚠
Conflicting classifications of pathogenicity 1
- p.Arg237Gly Single submitter ⚠
Benign 3
- p.Gly1069Val Single submitter
- p.Pro1491= Single submitter
- p.Val191= Single submitter
Likely benign 18
- p.Arg365Gln Multiple submitters neuromuscular disease
- p.Gly5Ser Multiple submitters
- p.Ala1340= Single submitter
- p.Ala1603= Single submitter
- p.Ala83Thr Single submitter
- p.Arg109Gln Single submitter
- p.Arg307Cys Single submitter ⚠
- p.Arg339Cys Single submitter ⚠
- p.Arg513Cys Single submitter
- p.Glu204Asp Single submitter ⚠
- p.Ile263Val Single submitter
- p.Pro47Leu Single submitter
- p.Ser617= Single submitter
- p.Thr412Met Single submitter ⚠
- p.Thr58Ala Single submitter
- p.Thr72Met Single submitter
- p.Val432Ile Single submitter
- p.Val45Met Single submitter
Uncertain significance 113
- c.2176+30T>G Single submitter
- c.2176+34C>T Single submitter
- c.785+1G>A Single submitter
- p.Ala104Thr Single submitter ⚠
- p.Ala202Thr Single submitter ⚠
- p.Ala346Thr Single submitter ⚠
- p.Ala385Val Single submitter ⚠
- p.Ala704Glu Single submitter ⚠
- p.Arg109Trp Single submitter ⚠
- p.Arg137His Single submitter ⚠
- p.Arg144Cys Single submitter ⚠
- p.Arg144His Single submitter ⚠
- p.Arg144Leu Single submitter ⚠
- p.Arg184Gln Single submitter ⚠
- p.Arg184Trp Single submitter ⚠
- p.Arg188Cys Single submitter ⚠
- p.Arg188His Single submitter ⚠
- p.Arg188Leu Single submitter ⚠
- p.Arg197Gln Single submitter ⚠
- p.Arg201Cys Single submitter ⚠
- p.Arg220Pro Single submitter ⚠
- p.Arg254Gln Single submitter ⚠
- p.Arg296Trp Single submitter ⚠
- p.Arg300Trp Single submitter ⚠
- p.Arg340Gln Single submitter ⚠
- p.Arg340Trp Single submitter ⚠
- p.Arg341Cys Single submitter ⚠
- p.Arg341Pro Single submitter ⚠
- p.Arg365Leu Single submitter ⚠
- p.Arg388Gln Single submitter ⚠
- p.Arg388Trp Single submitter ⚠
- p.Arg427Gln Single submitter ⚠
- p.Arg427Trp Single submitter ⚠
- p.Arg496Leu Single submitter ⚠
- p.Arg513His Single submitter ⚠
- p.Arg638Gln Single submitter ⚠
- p.Arg78Gln Single submitter ⚠
- p.Asp113Asn Single submitter ⚠
- p.Asp154His Single submitter ⚠
- p.Asp16His Single submitter ⚠
- p.Asp416Tyr Single submitter ⚠
- p.Asp621Asn Single submitter ⚠
- p.Cys36Tyr Single submitter ⚠
- p.Gln199Arg Single submitter ⚠
- p.Gln503Leu Single submitter ⚠
- p.Glu152Lys Single submitter ⚠
- p.Glu177Asp Single submitter ⚠
- p.Glu190Gln Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu267Val Single submitter ⚠
- p.Glu276Gln Single submitter ⚠
- p.Glu276Lys Single submitter ⚠
- p.Glu370Asp Single submitter ⚠
- p.Glu373Lys Single submitter ⚠
- p.Glu593Asp Single submitter ⚠
- p.Glu604Lys Single submitter ⚠
- p.Glu623Lys Single submitter ⚠
- p.Glu697Ala Single submitter ⚠
- p.Glu713Lys Single submitter ⚠
- p.Gly235Arg Single submitter ⚠
- p.Gly424Arg Single submitter ⚠
- p.Gly457Glu Single submitter ⚠
- p.Gly479Asp Single submitter ⚠
- p.Gly570Asp Single submitter ⚠
- p.Gly575Arg Single submitter ⚠
- p.His238Asn Single submitter ⚠
- p.Ile173Met Single submitter ⚠
- p.Ile292Asn Single submitter ⚠
- p.Ile537Met Single submitter ⚠
- p.Ile625Thr Single submitter ⚠
- p.Leu1099Arg Single submitter ⚠
- p.Leu180Phe Single submitter ⚠
- p.Leu221Pro Single submitter ⚠
- p.Leu428Phe Single submitter ⚠
- p.Leu522His Single submitter ⚠
- p.Leu551Val Single submitter ⚠
- p.Leu712Arg Single submitter ⚠
- p.Leu93Phe Single submitter ⚠
- p.Lys309Thr Single submitter ⚠
- p.Lys348Asn Single submitter ⚠
- p.Lys394Asn Single submitter ⚠
- p.Lys394Met Single submitter ⚠
- p.Lys550Gln Single submitter ⚠
- p.Lys610Asn Single submitter ⚠
- p.Lys681Glu Single submitter ⚠
- p.Met282Ile Single submitter ⚠
- p.Phe255Val Single submitter ⚠
- p.Phe527Tyr Single submitter ⚠
- p.Phe566Ser Single submitter ⚠
- p.Phe654Leu Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro381Ser Single submitter ⚠
- p.Pro425Leu Single submitter ⚠
- p.Pro519Leu Single submitter ⚠
- p.Pro569Thr Single submitter ⚠
- p.Pro9Arg Single submitter ⚠
- p.Ser142Phe Single submitter ⚠
- p.Ser577Pro Single submitter ⚠
- p.Ser629Gly Single submitter ⚠
- p.Thr538Met Single submitter ⚠
- p.Thr543Ala Single submitter ⚠
- p.Thr636Met Single submitter ⚠
- p.Thr67Ser Single submitter ⚠
- p.Tyr463Cys Single submitter ⚠
- p.Val1351Ile Single submitter ⚠
- p.Val141Met Single submitter ⚠
- p.Val336Ile Single submitter ⚠
- p.Val500Ala Single submitter ⚠
- p.Val532Met Single submitter ⚠
- p.Val631Met Single submitter ⚠
- p.Val645Ile Single submitter ⚠
- p.Val645Phe Single submitter ⚠
- p.Val768Gly Single submitter ciliary dyskinesia, primary, 49, without situs inversus ⚠