CFAP52 — 155 ClinVar variants
All ClinVar germline CFAP52 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
4 Likely pathogenic · 4 Conflicting · 15 Benign · 3 Benign/Likely benign · 24 Likely benign · 105 Uncertain significance
Full CFAP52 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CFAP52 p.Ala245Val
Conflicting
Single submitter
situs inversus
-
CFAP52 p.Gly263Asp
Conflicting
Single submitter
situs inversus
Predictors lean, ClinVar uncertain 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CFAP52 p.Ala147Thr
Uncertain significance
Multiple submitters
situs inversus
- CFAP52 p.Arg106Gln Uncertain significance Multiple submitters
-
CFAP52 p.Arg170Gln
Uncertain significance
Multiple submitters
situs inversus
-
CFAP52 p.Gly343Ser
Uncertain significance
Multiple submitters
situs inversus
-
CFAP52 p.Met551Thr
Uncertain significance
Multiple submitters
situs inversus
-
CFAP52 p.Val531Ala
Uncertain significance
Multiple submitters
situs inversus
-
CFAP52 p.Val67Ile
Uncertain significance
Multiple submitters
situs inversus
- CFAP52 p.Ala143Asp Uncertain significance Single submitter
- CFAP52 p.Ala161Val Uncertain significance Single submitter
- CFAP52 p.Ala328Glu Uncertain significance Single submitter
- CFAP52 p.Ala9Val Uncertain significance Single submitter
-
CFAP52 p.Arg257Ser
Uncertain significance
Single submitter
situs inversus
- CFAP52 p.Arg369Trp Uncertain significance Single submitter
-
CFAP52 p.Arg468Ser
Uncertain significance
Single submitter
situs inversus
- CFAP52 p.Arg494Lys Uncertain significance Single submitter
- CFAP52 p.Arg592Cys Uncertain significance Single submitter
- CFAP52 p.Arg592Ser Uncertain significance Single submitter
- CFAP52 p.Arg613Gln Uncertain significance Single submitter
- CFAP52 p.Asn157Ser Uncertain significance Single submitter
- CFAP52 p.Asn163Lys Uncertain significance Single submitter
- CFAP52 p.Asp171Asn Uncertain significance Single submitter
- CFAP52 p.Asp215Gly Uncertain significance Single submitter
- CFAP52 p.Asp241Gly Uncertain significance Single submitter
- CFAP52 p.Asp247Glu Uncertain significance Single submitter
- CFAP52 p.Asp2Gly Uncertain significance Single submitter
- CFAP52 p.Asp381Asn Uncertain significance Single submitter
- CFAP52 p.Asp381His Uncertain significance Single submitter
- CFAP52 p.Asp608Asn Uncertain significance Single submitter
- CFAP52 p.Cys169Gly Uncertain significance Single submitter
- CFAP52 p.Cys448Phe Uncertain significance Single submitter
- CFAP52 p.Cys69Arg Uncertain significance Single submitter
- CFAP52 p.Glu15Lys Uncertain significance Single submitter
- CFAP52 p.Glu455Ala Uncertain significance Single submitter
- CFAP52 p.Glu576Val Uncertain significance Single submitter
- CFAP52 p.Gly155Ser Uncertain significance Single submitter
-
CFAP52 p.Gly271Arg
Uncertain significance
Single submitter
heterotaxy, visceral, 10, autosomal, with male infertility
- CFAP52 p.Gly379Ser Uncertain significance Single submitter
- CFAP52 p.Gly521Arg Uncertain significance Single submitter
-
CFAP52 p.Gly82Arg
Uncertain significance
Single submitter
situs inversus
- CFAP52 p.His331Tyr Uncertain significance Single submitter
- CFAP52 p.Ile284Val Uncertain significance Single submitter
- CFAP52 p.Ile287Thr Uncertain significance Single submitter
- CFAP52 p.Ile314Val Uncertain significance Single submitter
- CFAP52 p.Leu103Pro Uncertain significance Single submitter
- CFAP52 p.Leu16Arg Uncertain significance Single submitter
- CFAP52 p.Leu453Val Uncertain significance Single submitter
- CFAP52 p.Lys246Arg Uncertain significance Single submitter
-
CFAP52 p.Lys323Asn
Uncertain significance
Single submitter
situs inversus
- CFAP52 p.Lys55Glu Uncertain significance Single submitter
-
CFAP52 p.Met498Val
Uncertain significance
Single submitter
situs inversus
- CFAP52 p.Pro7Leu Uncertain significance Single submitter
- CFAP52 p.Ser362Pro Uncertain significance Single submitter
- CFAP52 p.Ser434Asn Uncertain significance Single submitter
- CFAP52 p.Ser545Cys Uncertain significance Single submitter
- CFAP52 p.Ser547Thr Uncertain significance Single submitter
- CFAP52 p.Ser604Thr Uncertain significance Single submitter
-
CFAP52 p.Thr481Ser
Uncertain significance
Single submitter
situs inversus
- CFAP52 p.Thr519Asn Uncertain significance Single submitter
- CFAP52 p.Thr580Ala Uncertain significance Single submitter
- CFAP52 p.Tyr510Cys Uncertain significance Single submitter
- CFAP52 p.Val158Ile Uncertain significance Single submitter
- CFAP52 p.Val420Ile Uncertain significance Single submitter
- CFAP52 p.Val569Ile Uncertain significance Single submitter
- CFAP52 p.Val582Ile Uncertain significance Single submitter
-
CFAP52 p.Leu60Arg
Uncertain significance
No assertion criteria
CFAP52-related disorder
Predictors split 29
The independent predictors disagree with each other — read with care.
-
CFAP52 p.Ala161Asp
Uncertain significance
Multiple submitters
situs inversus
-
CFAP52 p.Arg594Cys
Uncertain significance
Multiple submitters
situs inversus
-
CFAP52 p.Val477Ala
Uncertain significance
Multiple submitters
situs inversus
- CFAP52 p.Arg106Trp Uncertain significance Single submitter
- CFAP52 p.Arg170Trp Uncertain significance Single submitter
-
CFAP52 p.Arg369Gln
Conflicting
Single submitter
situs inversus
- CFAP52 p.Arg492Cys Uncertain significance Single submitter
- CFAP52 p.Arg538Lys Uncertain significance Single submitter
- CFAP52 p.Arg594His Uncertain significance Single submitter
-
CFAP52 p.Asn23Lys
Uncertain significance
Single submitter
situs inversus
- CFAP52 p.Asp321Val Uncertain significance Single submitter
- CFAP52 p.Cys276Arg Uncertain significance Single submitter
- CFAP52 p.Gly135Arg Uncertain significance Single submitter
- CFAP52 p.Gly396Ser Uncertain significance Single submitter
- CFAP52 p.Gly419Ser Uncertain significance Single submitter
- CFAP52 p.Gly44Ser Uncertain significance Single submitter
-
CFAP52 p.Gly542Asp
Uncertain significance
Single submitter
situs inversus
- CFAP52 p.His586Gln Uncertain significance Single submitter
- CFAP52 p.Ile79Phe Uncertain significance Single submitter
- CFAP52 p.Leu500Pro Uncertain significance Single submitter
- CFAP52 p.Met498Ile Uncertain significance Single submitter
- CFAP52 p.Pro279Ser Uncertain significance Single submitter
- CFAP52 p.Pro512Ala Uncertain significance Single submitter
- CFAP52 p.Ser547Leu Uncertain significance Single submitter
-
CFAP52 p.Thr591Ile
Likely benign
Single submitter
situs inversus
- CFAP52 p.Tyr78Asn Uncertain significance Single submitter
- CFAP52 p.Val372Leu Uncertain significance Single submitter
- CFAP52 p.Val582Ala Uncertain significance Single submitter
- CFAP52 p.Val603Ala Uncertain significance Single submitter
All CFAP52 variants
Likely pathogenic 4
- c.536+1G>T Single submitter situs inversus
- p.Arg183Ter Single submitter heterotaxy, visceral, 10, autosomal, with male infertility
- p.Arg407Ter Single submitter heterotaxy, visceral, 10, autosomal, with male infertility
- p.Thr236fs Single submitter
Conflicting classifications of pathogenicity 4
- p.Ala245Val Single submitter situs inversus ⚠
- p.Arg369Gln Single submitter situs inversus ⚠
- p.Gly263Asp Single submitter situs inversus ⚠
- p.Gly435fs Single submitter situs inversus
Benign 15
- c.1026-3C>T Multiple submitters situs inversus
- p.Ala270= Multiple submitters situs inversus
- p.Ala349= Multiple submitters situs inversus
- p.Asp355= Multiple submitters situs inversus
- p.Asp385= Multiple submitters situs inversus
- p.Glu336Lys Multiple submitters situs inversus
- p.Gly564= Multiple submitters situs inversus
- p.Ser547= Multiple submitters situs inversus
- p.Val464= Multiple submitters situs inversus
- c.1320+18T>C Single submitter situs inversus
- c.537-7del Single submitter situs inversus
- c.537-7dup Single submitter situs inversus
- c.636+12_636+16del Single submitter situs inversus
- c.854+10G>T Single submitter situs inversus
- p.Ser268= Single submitter situs inversus
Benign/Likely benign 3
Likely benign 24
- p.Ala153Val Multiple submitters situs inversus
- p.Arg538Thr Multiple submitters situs inversus
- p.Ile79= Multiple submitters
- p.Leu251= Multiple submitters situs inversus
- c.1025+19C>A Single submitter situs inversus
- c.537-18T>G Single submitter situs inversus
- p.Ala177= Single submitter situs inversus
- p.Arg365= Single submitter
- p.Asn473= Single submitter situs inversus
- p.Asn575= Single submitter situs inversus
- p.Asp133= Single submitter
- p.Gly291= Single submitter situs inversus
- p.Gly419= Single submitter situs inversus
- p.Gly563= Single submitter
- p.Gly88= Single submitter
- p.His567= Single submitter situs inversus
- p.Ile72Val Single submitter situs inversus
- p.Leu306= Single submitter
- p.Ser312= Single submitter situs inversus
- p.Ser81= Single submitter situs inversus
- p.Thr421= Single submitter
- p.Thr46= Single submitter situs inversus
- p.Thr591Ile Single submitter situs inversus ⚠
- p.Val584= Single submitter situs inversus
Uncertain significance 105
- p.Ala147Thr Multiple submitters situs inversus ⚠
- p.Ala161Asp Multiple submitters situs inversus ⚠
- p.Arg106Gln Multiple submitters ⚠
- p.Arg170Gln Multiple submitters situs inversus ⚠
- p.Arg594Cys Multiple submitters situs inversus ⚠
- p.Gly343Ser Multiple submitters situs inversus ⚠
- p.Gly534Ala Multiple submitters situs inversus
- p.His63delinsGlnAla Multiple submitters situs inversus
- p.Met551Thr Multiple submitters situs inversus ⚠
- p.Tyr41His Multiple submitters situs inversus
- p.Val477Ala Multiple submitters situs inversus ⚠
- p.Val531Ala Multiple submitters situs inversus ⚠
- p.Val67Ile Multiple submitters situs inversus ⚠
- c.1472+5G>A Single submitter
- c.71-1591_270+1del Single submitter heterotaxy, visceral, 10, autosomal, with male infertility
- p.Ala116Val Single submitter
- p.Ala143Asp Single submitter ⚠
- p.Ala161Val Single submitter ⚠
- p.Ala328Glu Single submitter ⚠
- p.Ala9Val Single submitter ⚠
- p.Arg106Trp Single submitter ⚠
- p.Arg170Trp Single submitter ⚠
- p.Arg257Ser Single submitter situs inversus ⚠
- p.Arg299Ter Single submitter
- p.Arg369Trp Single submitter ⚠
- p.Arg468Ser Single submitter situs inversus ⚠
- p.Arg492Cys Single submitter ⚠
- p.Arg494Lys Single submitter ⚠
- p.Arg538Lys Single submitter ⚠
- p.Arg592Cys Single submitter ⚠
- p.Arg592Ser Single submitter ⚠
- p.Arg594His Single submitter ⚠
- p.Arg613Gln Single submitter ⚠
- p.Arg613Ter Single submitter
- p.Asn157Ser Single submitter ⚠
- p.Asn163Lys Single submitter ⚠
- p.Asn23Lys Single submitter situs inversus ⚠
- p.Asp171Asn Single submitter ⚠
- p.Asp215Gly Single submitter ⚠
- p.Asp241Gly Single submitter ⚠
- p.Asp247Glu Single submitter ⚠
- p.Asp2Gly Single submitter ⚠
- p.Asp321Val Single submitter ⚠
- p.Asp35Gly Single submitter
- p.Asp381Asn Single submitter ⚠
- p.Asp381His Single submitter ⚠
- p.Asp608Asn Single submitter ⚠
- p.Cys169Gly Single submitter ⚠
- p.Cys276Arg Single submitter ⚠
- p.Cys448Phe Single submitter ⚠
- p.Cys69Arg Single submitter ⚠
- p.Glu15Lys Single submitter ⚠
- p.Glu455Ala Single submitter ⚠
- p.Glu576Val Single submitter ⚠
- p.Gly135Arg Single submitter ⚠
- p.Gly155Ser Single submitter ⚠
- p.Gly271Arg Single submitter heterotaxy, visceral, 10, autosomal, with male infertility ⚠
- p.Gly379Ser Single submitter ⚠
- p.Gly396Ser Single submitter ⚠
- p.Gly419Ser Single submitter ⚠
- p.Gly44Ser Single submitter ⚠
- p.Gly521Arg Single submitter ⚠
- p.Gly542Asp Single submitter situs inversus ⚠
- p.Gly82Arg Single submitter situs inversus ⚠
- p.His303Arg Single submitter
- p.His331Tyr Single submitter ⚠
- p.His586Gln Single submitter ⚠
- p.Ile284Val Single submitter ⚠
- p.Ile287Thr Single submitter ⚠
- p.Ile314Val Single submitter ⚠
- p.Ile79Phe Single submitter ⚠
- p.Leu103Pro Single submitter ⚠
- p.Leu16Arg Single submitter ⚠
- p.Leu453Val Single submitter ⚠
- p.Leu500Pro Single submitter ⚠
- p.Lys246Arg Single submitter ⚠
- p.Lys323Asn Single submitter situs inversus ⚠
- p.Lys55Glu Single submitter ⚠
- p.Met1Ile Single submitter CFAP52-related disorder
- p.Met498Ile Single submitter ⚠
- p.Met498Val Single submitter situs inversus ⚠
- p.Pro279Ser Single submitter ⚠
- p.Pro403Leu Single submitter CFAP52-related disorder
- p.Pro512Ala Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Ser362Pro Single submitter ⚠
- p.Ser388fs Single submitter
- p.Ser434Asn Single submitter ⚠
- p.Ser545Cys Single submitter ⚠
- p.Ser547Leu Single submitter ⚠
- p.Ser547Thr Single submitter ⚠
- p.Ser604Thr Single submitter ⚠
- p.Thr481Ser Single submitter situs inversus ⚠
- p.Thr519Asn Single submitter ⚠
- p.Thr580Ala Single submitter ⚠
- p.Tyr510Cys Single submitter ⚠
- p.Tyr78Asn Single submitter ⚠
- p.Val158Ile Single submitter ⚠
- p.Val372Leu Single submitter ⚠
- p.Val420Ile Single submitter ⚠
- p.Val569Ile Single submitter ⚠
- p.Val582Ala Single submitter ⚠
- p.Val582Ile Single submitter ⚠
- p.Val603Ala Single submitter ⚠
- p.Leu60Arg No assertion criteria CFAP52-related disorder ⚠