CFAP57 — 184 ClinVar variants
All ClinVar germline CFAP57 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
1 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 13 Benign · 63 Likely benign · 102 Uncertain significance
Full CFAP57 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP57 p.Ala145Thr Uncertain significance Single submitter
-
CFAP57 p.Ala145Val
Uncertain significance
Single submitter
CFAP57-related disorder
- CFAP57 p.Ala433Val Uncertain significance Single submitter
- CFAP57 p.Ala450Ser Uncertain significance Single submitter
- CFAP57 p.Arg181His Uncertain significance Single submitter
- CFAP57 p.Arg516His Uncertain significance Single submitter
- CFAP57 p.Arg588Gln Uncertain significance Single submitter
- CFAP57 p.Arg69Gln Uncertain significance Single submitter
- CFAP57 p.Arg95Gln Uncertain significance Single submitter
- CFAP57 p.Arg95Trp Uncertain significance Single submitter
- CFAP57 p.Asn102Ser Uncertain significance Single submitter
- CFAP57 p.Asn174Ser Uncertain significance Single submitter
- CFAP57 p.Asn199His Uncertain significance Single submitter
- CFAP57 p.Asn68Ser Uncertain significance Single submitter
- CFAP57 p.Asp565Asn Uncertain significance Single submitter
- CFAP57 p.Cys38Tyr Uncertain significance Single submitter
- CFAP57 p.Gln250Pro Uncertain significance Single submitter
- CFAP57 p.Gln270His Uncertain significance Single submitter
-
CFAP57 p.Glu1035Asp
Uncertain significance
Single submitter
CFAP57-related disorder
- CFAP57 p.Glu196Lys Uncertain significance Single submitter
- CFAP57 p.Glu308Gly Uncertain significance Single submitter
- CFAP57 p.Glu80Gly Uncertain significance Single submitter
- CFAP57 p.Gly530Ser Uncertain significance Single submitter
- CFAP57 p.Gly639Ser Uncertain significance Single submitter
- CFAP57 p.His203Arg Uncertain significance Single submitter
- CFAP57 p.His495Tyr Uncertain significance Single submitter
- CFAP57 p.His576Tyr Uncertain significance Single submitter
- CFAP57 p.Ile146Thr Uncertain significance Single submitter
- CFAP57 p.Ile211Leu Uncertain significance Single submitter
- CFAP57 p.Ile256Thr Uncertain significance Single submitter
- CFAP57 p.Ile460Val Uncertain significance Single submitter
- CFAP57 p.Ile84Thr Uncertain significance Single submitter
- CFAP57 p.Leu353Pro Uncertain significance Single submitter
- CFAP57 p.Leu383Phe Uncertain significance Single submitter
- CFAP57 p.Leu459Phe Uncertain significance Single submitter
- CFAP57 p.Leu63Ser Uncertain significance Single submitter
- CFAP57 p.Lys244Glu Uncertain significance Single submitter
- CFAP57 p.Met113Lys Uncertain significance Single submitter
- CFAP57 p.Met282Val Uncertain significance Single submitter
- CFAP57 p.Met384Ile Uncertain significance Single submitter
- CFAP57 p.Pro128Ser Uncertain significance Single submitter
- CFAP57 p.Pro197Ser Uncertain significance Single submitter
- CFAP57 p.Pro197Thr Uncertain significance Single submitter
- CFAP57 p.Pro266Ser Uncertain significance Single submitter
- CFAP57 p.Pro440Ser Uncertain significance Single submitter
- CFAP57 p.Pro52Leu Uncertain significance Single submitter
- CFAP57 p.Pro67Ser Uncertain significance Single submitter
- CFAP57 p.Pro82Ala Uncertain significance Single submitter
- CFAP57 p.Ser252Leu Uncertain significance Single submitter
- CFAP57 p.Ser506Ala Uncertain significance Single submitter
-
CFAP57 p.Ser584Ala
Uncertain significance
Single submitter
CFAP57-related disorder
- CFAP57 p.Ser591Pro Uncertain significance Single submitter
- CFAP57 p.Ser91Cys Uncertain significance Single submitter
- CFAP57 p.Thr217Arg Uncertain significance Single submitter
- CFAP57 p.Thr240Ala Uncertain significance Single submitter
- CFAP57 p.Thr370Ile Uncertain significance Single submitter
- CFAP57 p.Thr422Asn Uncertain significance Single submitter
- CFAP57 p.Thr498Ala Uncertain significance Single submitter
- CFAP57 p.Tyr135Cys Uncertain significance Single submitter
- CFAP57 p.Tyr557His Uncertain significance Single submitter
- CFAP57 p.Tyr597Phe Uncertain significance Single submitter
- CFAP57 p.Val147Gly Uncertain significance Single submitter
- CFAP57 p.Val169Met Uncertain significance Single submitter
- CFAP57 p.Val206Met Uncertain significance Single submitter
- CFAP57 p.Val213Ile Uncertain significance Single submitter
- CFAP57 p.Val493Met Uncertain significance Single submitter
- CFAP57 p.Val4Met Uncertain significance Single submitter
-
CFAP57 p.Arg1148Cys
Uncertain significance
No assertion criteria
CFAP57-related disorder
-
CFAP57 p.Met621Lys
Uncertain significance
No assertion criteria
CFAP57-related disorder
Predictors split 29
The independent predictors disagree with each other — read with care.
- CFAP57 p.Gln125Arg Likely benign Multiple submitters
- CFAP57 p.Ala287Thr Uncertain significance Single submitter
- CFAP57 p.Ala488Thr Uncertain significance Single submitter
- CFAP57 p.Arg181Cys Uncertain significance Single submitter
- CFAP57 p.Arg303Gly Uncertain significance Single submitter
- CFAP57 p.Arg414Cys Uncertain significance Single submitter
- CFAP57 p.Arg464Cys Uncertain significance Single submitter
- CFAP57 p.Arg97Cys Uncertain significance Single submitter
- CFAP57 p.Cys550Trp Uncertain significance Single submitter
- CFAP57 p.Glu1146Lys Likely benign Single submitter
- CFAP57 p.Glu476Gln Likely benign Single submitter
- CFAP57 p.Glu88Lys Uncertain significance Single submitter
- CFAP57 p.Glu956Gly Likely benign Single submitter
- CFAP57 p.Ile84Phe Uncertain significance Single submitter
- CFAP57 p.Lys359Glu Uncertain significance Single submitter
- CFAP57 p.Lys427Asn Uncertain significance Single submitter
- CFAP57 p.Lys467Asn Uncertain significance Single submitter
- CFAP57 p.Lys98Thr Uncertain significance Single submitter
- CFAP57 p.Phe50Leu Uncertain significance Single submitter
- CFAP57 p.Pro67Thr Uncertain significance Single submitter
- CFAP57 p.Ser614Leu Benign Single submitter
- CFAP57 p.Thr512Ile Uncertain significance Single submitter
- CFAP57 p.Thr543Arg Uncertain significance Single submitter
- CFAP57 p.Tyr597Cys Uncertain significance Single submitter
- CFAP57 p.Val354Phe Uncertain significance Single submitter
- CFAP57 p.Val562Ala Uncertain significance Single submitter
-
CFAP57 p.Arg1103Trp
Benign
No assertion criteria
CFAP57-related disorder
-
CFAP57 p.Gly394Ser
Uncertain significance
No assertion criteria
CFAP57-related disorder
-
CFAP57 p.Ile288Thr
Uncertain significance
No assertion criteria
CFAP57-related disorder
All CFAP57 variants
Pathogenic 1
- p.Arg958Ter Single submitter spermatogenic failure 95
Likely pathogenic 3
- p.Arg1040fs Single submitter
- p.Arg411Ter Single submitter spermatogenic failure 95
- p.Arg588Ter No assertion criteria primary ciliary dyskinesia
Conflicting classifications of pathogenicity 2
- c.1929+50G>A Single submitter CFAP57-related disorder
- p.Arg607His Single submitter ⚠
Benign 13
- c.1262+13A>G Single submitter
- c.1428+12del Single submitter
- c.3127-15C>T Single submitter
- c.970-9T>C Single submitter
- c.-15G>C Single submitter
- p.Gly59Val Single submitter van der Woude syndrome 2
- p.His443= Single submitter
- p.Ser603= Single submitter
- p.Ser614Leu Single submitter ⚠
- p.Val11= Single submitter
- p.Arg1103Trp No assertion criteria CFAP57-related disorder ⚠
- p.Gln125His No assertion criteria CFAP57-related disorder
- p.Val849_Arg850insThr No assertion criteria CFAP57-related disorder
Likely benign 63
- p.Gln125Arg Multiple submitters ⚠
- p.Ile322Met Multiple submitters
- p.Ser614= Multiple submitters
- c.1428+12dup Single submitter
- c.1428+13C>T Single submitter
- c.1543-7C>T Single submitter
- c.1755+20G>A Single submitter
- c.1929+131A>G Single submitter
- c.1929+52G>A Single submitter
- c.2706+19A>G Single submitter
- c.2706+7G>T Single submitter
- c.2865+4C>A Single submitter
- c.3009+12T>C Single submitter
- c.3406-11C>T Single submitter
- c.3406-12C>G Single submitter
- c.475-8T>C Single submitter
- c.969+17A>G Single submitter
- c.969+21del Single submitter
- c.969+7C>T Single submitter
- p.Ala183= Single submitter
- p.Ala202= Single submitter
- p.Ala592= Single submitter
- p.Ala599Thr Single submitter
- p.Arg619Cys Single submitter
- p.Arg814Gln Single submitter
- p.Asn241Asp Single submitter
- p.Asn966= Single submitter
- p.Cys345Ser Single submitter
- p.Gln799= Single submitter
- p.Glu1106= Single submitter
- p.Glu1146Lys Single submitter ⚠
- p.Glu476Gln Single submitter ⚠
- p.Glu956Gly Single submitter ⚠
- p.Gly13= Single submitter
- p.Gly475Arg Single submitter
- p.Gly530Cys Single submitter
- p.Gly660Ser Single submitter
- p.Ile146Val Single submitter
- p.Ile392= Single submitter
- p.Ile445= Single submitter
- p.Leu306= Single submitter
- p.Leu502= Single submitter
- p.Leu842= Single submitter
- p.Lys40= Single submitter
- p.Met280Ile Single submitter
- p.Phe972= Single submitter
- p.Pro564= Single submitter
- p.Ser1241= Single submitter
- p.Ser245Asn Single submitter
- p.Thr186Ile Single submitter
- p.Thr647= Single submitter
- p.Tyr878= Single submitter
- p.Val1224= Single submitter
- p.Val212= Single submitter
- p.Val341Ile Single submitter
- c.1929+70A>G No assertion criteria CFAP57-related disorder
- c.3010-346C>T No assertion criteria CFAP57-related disorder
- c.3010-433A>G No assertion criteria CFAP57-related disorder
- c.3010-8G>A No assertion criteria CFAP57-related disorder
- c.969+10G>A No assertion criteria CFAP57-related disorder
- p.Gln967= No assertion criteria CFAP57-related disorder
- p.Pro259= No assertion criteria CFAP57-related disorder
- p.Thr186Ser No assertion criteria CFAP57-related disorder
Uncertain significance 102
- c.1929+122A>C Single submitter
- c.1929+139C>A Single submitter
- c.1929+154A>T Single submitter
- c.1929+158T>C Single submitter
- c.1929+49C>T Single submitter
- c.1929+59T>C Single submitter
- c.2248-4_2248-2delinsCTG Single submitter
- c.2866-5C>T Single submitter
- p.Ala145Thr Single submitter ⚠
- p.Ala145Val Single submitter CFAP57-related disorder ⚠
- p.Ala287Thr Single submitter ⚠
- p.Ala433Val Single submitter ⚠
- p.Ala450Ser Single submitter ⚠
- p.Ala488Thr Single submitter ⚠
- p.Arg181Cys Single submitter ⚠
- p.Arg181His Single submitter ⚠
- p.Arg303Gly Single submitter ⚠
- p.Arg414Cys Single submitter ⚠
- p.Arg464Cys Single submitter ⚠
- p.Arg516His Single submitter ⚠
- p.Arg588Gln Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Arg95Trp Single submitter ⚠
- p.Arg97Cys Single submitter ⚠
- p.Asn102Ser Single submitter ⚠
- p.Asn174Ser Single submitter ⚠
- p.Asn199His Single submitter ⚠
- p.Asn68Ser Single submitter ⚠
- p.Asp565Asn Single submitter ⚠
- p.Cys38Phe Single submitter
- p.Cys38Tyr Single submitter ⚠
- p.Cys550Trp Single submitter ⚠
- p.Gln250Pro Single submitter ⚠
- p.Gln270His Single submitter ⚠
- p.Glu1035Asp Single submitter CFAP57-related disorder ⚠
- p.Glu196Lys Single submitter ⚠
- p.Glu308Gly Single submitter ⚠
- p.Glu80Gly Single submitter ⚠
- p.Glu88Lys Single submitter ⚠
- p.Gly530Ser Single submitter ⚠
- p.Gly639Ser Single submitter ⚠
- p.His203Arg Single submitter ⚠
- p.His495Tyr Single submitter ⚠
- p.His576Tyr Single submitter ⚠
- p.Ile146Thr Single submitter ⚠
- p.Ile211Leu Single submitter ⚠
- p.Ile256Thr Single submitter ⚠
- p.Ile460Val Single submitter ⚠
- p.Ile84Phe Single submitter ⚠
- p.Ile84Thr Single submitter ⚠
- p.Leu353Pro Single submitter ⚠
- p.Leu383Phe Single submitter ⚠
- p.Leu459Phe Single submitter ⚠
- p.Leu63Ser Single submitter ⚠
- p.Lys244Glu Single submitter ⚠
- p.Lys359Glu Single submitter ⚠
- p.Lys427Asn Single submitter ⚠
- p.Lys467Asn Single submitter ⚠
- p.Lys98Thr Single submitter ⚠
- p.Met113Lys Single submitter ⚠
- p.Met282Val Single submitter ⚠
- p.Met384Ile Single submitter ⚠
- p.Phe50Leu Single submitter ⚠
- p.Pro128Ser Single submitter ⚠
- p.Pro197Ser Single submitter ⚠
- p.Pro197Thr Single submitter ⚠
- p.Pro266Ser Single submitter ⚠
- p.Pro440Ser Single submitter ⚠
- p.Pro52Leu Single submitter ⚠
- p.Pro67Ser Single submitter ⚠
- p.Pro67Thr Single submitter ⚠
- p.Pro82Ala Single submitter ⚠
- p.Ser252Leu Single submitter ⚠
- p.Ser506Ala Single submitter ⚠
- p.Ser584Ala Single submitter CFAP57-related disorder ⚠
- p.Ser591Pro Single submitter ⚠
- p.Ser91Cys Single submitter ⚠
- p.Thr217Arg Single submitter ⚠
- p.Thr240Ala Single submitter ⚠
- p.Thr370Ile Single submitter ⚠
- p.Thr422Asn Single submitter ⚠
- p.Thr498Ala Single submitter ⚠
- p.Thr512Ile Single submitter ⚠
- p.Thr543Arg Single submitter ⚠
- p.Tyr135Cys Single submitter ⚠
- p.Tyr557His Single submitter ⚠
- p.Tyr597Cys Single submitter ⚠
- p.Tyr597Phe Single submitter ⚠
- p.Val147Gly Single submitter ⚠
- p.Val169Met Single submitter ⚠
- p.Val206Met Single submitter ⚠
- p.Val213Ile Single submitter ⚠
- p.Val354Phe Single submitter ⚠
- p.Val493Met Single submitter ⚠
- p.Val4Met Single submitter ⚠
- p.Val562Ala Single submitter ⚠
- p.Arg1148Cys No assertion criteria CFAP57-related disorder ⚠
- p.Asp523Tyr No assertion criteria van der Woude syndrome 2
- p.Gly394Ser No assertion criteria CFAP57-related disorder ⚠
- p.Ile288Thr No assertion criteria CFAP57-related disorder ⚠
- p.Met621Lys No assertion criteria CFAP57-related disorder ⚠