CFAP298 — 157 ClinVar variants
All ClinVar germline CFAP298 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
9 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 11 Benign · 3 Benign/Likely benign · 78 Likely benign · 54 Uncertain significance
Full CFAP298 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CFAP298 p.Gly80Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFAP298 p.Ala149Val Uncertain significance Single submitter
- CFAP298 p.Ala270Val Uncertain significance Single submitter
- CFAP298 p.Arg230Gln Uncertain significance Single submitter
- CFAP298 p.Arg38Pro Uncertain significance Single submitter
- CFAP298 p.Asn272Ser Uncertain significance Single submitter
- CFAP298 p.Cys83Ser Uncertain significance Single submitter
- CFAP298 p.Gln42Glu Uncertain significance Single submitter
- CFAP298 p.Glu137Lys Uncertain significance Single submitter
- CFAP298 p.Glu197Ala Uncertain significance Single submitter
- CFAP298 p.Gly55Ala Uncertain significance Single submitter
- CFAP298 p.Ile96Thr Uncertain significance Single submitter
- CFAP298 p.Leu24Val Uncertain significance Single submitter
- CFAP298 p.Leu75Ser Uncertain significance Single submitter
- CFAP298 p.Met136Thr Uncertain significance Single submitter
- CFAP298 p.Met151Lys Uncertain significance Single submitter
- CFAP298 p.Phe279Leu Uncertain significance Single submitter
- CFAP298 p.Pro289Leu Uncertain significance Single submitter
- CFAP298 p.Val153Ile Uncertain significance Single submitter
- CFAP298 p.Val153Phe Uncertain significance Single submitter
- CFAP298 p.Val183Leu Uncertain significance Single submitter
- CFAP298 p.Val31Leu Uncertain significance Single submitter
- CFAP298 p.Val84Ile Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
-
CFAP298 p.Asp141Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 26
-
CFAP298 p.Gln225Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFAP298 p.Val208Met
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 26
- CFAP298 p.Ala149Thr Uncertain significance Single submitter
- CFAP298 p.Ala189Val Uncertain significance Single submitter
- CFAP298 p.Ala218Thr Uncertain significance Single submitter
-
CFAP298 p.Arg98Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CFAP298 p.Asp173Tyr Likely benign Single submitter
- CFAP298 p.Asp260Tyr Uncertain significance Single submitter
- CFAP298 p.Asp261Asn Uncertain significance Single submitter
- CFAP298 p.Asp67Asn Uncertain significance Single submitter
- CFAP298 p.Glu129Val Uncertain significance Single submitter
- CFAP298 p.Gly131Ser Uncertain significance Single submitter
- CFAP298 p.Leu146Phe Uncertain significance Single submitter
- CFAP298 p.Leu253Phe Uncertain significance Single submitter
- CFAP298 p.Lys76Arg Uncertain significance Single submitter
- CFAP298 p.Phe168Leu Uncertain significance Single submitter
- CFAP298 p.Pro160Leu Uncertain significance Single submitter
- CFAP298 p.Pro268Leu Uncertain significance Single submitter
- CFAP298 p.Thr201Met Uncertain significance Single submitter
- CFAP298 p.Tyr245Cys Uncertain significance Single submitter
- CFAP298 p.Val139Met Uncertain significance Single submitter
- CFAP298 p.Val6Leu Uncertain significance Single submitter
All CFAP298 variants
Pathogenic 9
- p.Gln190fs Multiple submitters primary ciliary dyskinesia 26
- p.Gln225Ter Multiple submitters primary ciliary dyskinesia 26
- p.Arg147Ter Single submitter
- p.Arg230Ter Single submitter
- p.Gln241Ter Single submitter primary ciliary dyskinesia 26
- p.Leu146fs Single submitter
- p.Leu58fs Single submitter
- p.Ala103Asp No assertion criteria Heterotaxy
- p.Ala263_Tyr264insTer No assertion criteria primary ciliary dyskinesia 26
Pathogenic/Likely pathogenic 1
- p.Arg98Ter Multiple submitters primary ciliary dyskinesia 26
Likely pathogenic 1
- c.534+1G>A Single submitter
Benign 11
- c.308-16C>G Multiple submitters primary ciliary dyskinesia 26
- c.376-20C>T Multiple submitters
- c.376-304= Multiple submitters
- c.535-94A>C Multiple submitters
- c.763-39C>T Multiple submitters
- c.*65A>T Multiple submitters
- c.307+297C>G Single submitter
- c.375+54del Single submitter
- c.535-41G>T Single submitter
- p.Thr66= Single submitter
- c.762+36C>G No assertion criteria CFAP298-related disorder
Benign/Likely benign 3
- c.762+6A>G Multiple submitters
- p.Val208Met Multiple submitters primary ciliary dyskinesia 26 ⚠
- p.Val90= Multiple submitters
Likely benign 78
- c.-13C>T Multiple submitters
- c.-27A>C Multiple submitters
- p.Ile184= Multiple submitters primary ciliary dyskinesia 26
- c.139+13G>T Single submitter
- c.139+16G>T Single submitter
- c.139+9C>T Single submitter
- c.140-17T>C Single submitter
- c.307+74_307+75dup Single submitter
- c.307+75del Single submitter
- c.308-154G>A Single submitter
- c.308-8T>G Single submitter
- c.375+20_375+26del Single submitter
- c.375+53_375+54dup Single submitter
- c.375+54dup Single submitter
- c.375+55G>T Single submitter
- c.376-10C>T Single submitter
- c.376-19G>A Single submitter
- c.376-8G>A Single submitter
- c.534+16G>A Single submitter
- c.535-129C>G Single submitter
- c.535-12G>A Single submitter
- c.535-13C>T Single submitter
- c.535-14dup Single submitter
- c.535-17C>G Single submitter
- c.535-327C>T Single submitter
- c.666+13T>C Single submitter
- c.667-11C>T Single submitter
- c.667-14T>A Single submitter
- c.667-14T>C Single submitter
- c.667-15C>T Single submitter
- c.667-4G>T Single submitter
- c.762+12C>G Single submitter
- c.762+13A>G Single submitter
- c.762+14G>A Single submitter
- c.762+20C>G Single submitter
- c.762+9G>C Single submitter
- c.763-11C>A Single submitter
- p.Ala121= Single submitter
- p.Ala130= Single submitter
- p.Ala149= Single submitter
- p.Ala179= Single submitter
- p.Ala18= Single submitter
- p.Ala187= Single submitter
- p.Ala189= Single submitter
- p.Ala274= Single submitter
- p.Ala32= Single submitter
- p.Arg200= Single submitter
- p.Asn182= Single submitter
- p.Asp173Tyr Single submitter ⚠
- p.Asp284= Single submitter
- p.Asp94= Single submitter
- p.Cys83= Single submitter
- p.Gln110= Single submitter
- p.Gln17= Single submitter
- p.Gly148= Single submitter
- p.Gly180= Single submitter
- p.Gly64= Single submitter
- p.Ile217= Single submitter
- p.Leu158= Single submitter
- p.Leu174= Single submitter
- p.Leu198= Single submitter
- p.Leu244= Single submitter
- p.Leu27= Single submitter
- p.Leu58= Single submitter
- p.Leu73= Single submitter
- p.Lys107= Single submitter
- p.Phe168= Single submitter
- p.Phe57Val Single submitter
- p.Pro160= Single submitter
- p.Ser12= Single submitter
- p.Ser175= Single submitter
- p.Ser86= Single submitter
- p.Thr22= Single submitter
- p.Thr28= Single submitter
- p.Tyr207= Single submitter
- p.Val208= Single submitter
- p.Val282= Single submitter
- c.666+77G>A No assertion criteria CFAP298-related disorder
Uncertain significance 54
- p.Arg277fs Multiple submitters primary ciliary dyskinesia 26
- p.Asp141Gly Multiple submitters primary ciliary dyskinesia 26 ⚠
- p.Gln225Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly80Ser Multiple submitters Inborn genetic diseases ⚠
- c.534+3A>G Single submitter
- c.534+4C>T Single submitter
- c.535-13del Single submitter
- c.666+5G>A Single submitter
- c.666+6T>C Single submitter
- p.Ala149Thr Single submitter ⚠
- p.Ala149Val Single submitter ⚠
- p.Ala189Val Single submitter ⚠
- p.Ala218Thr Single submitter ⚠
- p.Ala270Val Single submitter ⚠
- p.Arg200del Single submitter
- p.Arg230Gln Single submitter ⚠
- p.Arg38Pro Single submitter ⚠
- p.Arg98Gln Single submitter Inborn genetic diseases ⚠
- p.Asn272Ser Single submitter ⚠
- p.Asp260Tyr Single submitter ⚠
- p.Asp261Asn Single submitter ⚠
- p.Asp67Asn Single submitter ⚠
- p.Cys83Ser Single submitter ⚠
- p.Gln42Glu Single submitter ⚠
- p.Glu129Val Single submitter ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu197Ala Single submitter ⚠
- p.Gly131Ser Single submitter ⚠
- p.Gly55Ala Single submitter ⚠
- p.Gly9= Single submitter
- p.Ile285fs Single submitter
- p.Ile96Thr Single submitter ⚠
- p.Leu146Phe Single submitter ⚠
- p.Leu24Val Single submitter ⚠
- p.Leu253Phe Single submitter ⚠
- p.Leu75Ser Single submitter ⚠
- p.Lys76Arg Single submitter ⚠
- p.Met136Thr Single submitter ⚠
- p.Met151Lys Single submitter ⚠
- p.Met1Val Single submitter
- p.Phe168Leu Single submitter ⚠
- p.Phe279Leu Single submitter ⚠
- p.Pro160Leu Single submitter ⚠
- p.Pro268Leu Single submitter ⚠
- p.Pro289Leu Single submitter ⚠
- p.Thr201Met Single submitter ⚠
- p.Tyr245Cys Single submitter ⚠
- p.Val139Met Single submitter ⚠
- p.Val153Ile Single submitter ⚠
- p.Val153Phe Single submitter ⚠
- p.Val183Leu Single submitter ⚠
- p.Val31Leu Single submitter ⚠
- p.Val6Leu Single submitter ⚠
- p.Val84Ile Single submitter ⚠