CFAP300 — 118 ClinVar variants
All ClinVar germline CFAP300 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
12 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 12 Benign · 58 Likely benign · 28 Uncertain significance
Full CFAP300 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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CFAP300 p.Asp118Gly
Likely pathogenic
Single submitter
ciliary dyskinesia, primary, 38
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP300 p.Ala235Thr Uncertain significance Single submitter
- CFAP300 p.Asn100Ser Uncertain significance Single submitter
- CFAP300 p.Asn237Ile Uncertain significance Single submitter
- CFAP300 p.Cys129Arg Uncertain significance Single submitter
- CFAP300 p.Cys175Phe Uncertain significance Single submitter
-
CFAP300 p.Glu239Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CFAP300 p.Lys195Asn Uncertain significance Single submitter
- CFAP300 p.Met230Ile Uncertain significance Single submitter
- CFAP300 p.Met230Val Uncertain significance Single submitter
- CFAP300 p.Met39Leu Uncertain significance Single submitter
-
CFAP300 p.Phe14Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFAP300 p.Phe14Leu
Uncertain significance
Single submitter
ciliary dyskinesia, primary, 38
- CFAP300 p.Phe62Ser Uncertain significance Single submitter
- CFAP300 p.Ser234Thr Uncertain significance Single submitter
- CFAP300 p.Ser26Thr Uncertain significance Single submitter
- CFAP300 p.Thr216Ile Uncertain significance Single submitter
- CFAP300 p.Val101Ala Uncertain significance Single submitter
- CFAP300 p.Val204Phe Uncertain significance Single submitter
- CFAP300 p.Val222Asp Uncertain significance Single submitter
- CFAP300 p.Val256Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- CFAP300 p.Arg252Cys Benign Single submitter
-
CFAP300 p.Arg252His
Uncertain significance
Single submitter
Inborn genetic diseases
- CFAP300 p.His253Tyr Uncertain significance Single submitter
- CFAP300 p.Pro102Ser Uncertain significance Single submitter
- CFAP300 p.Ser123Gly Uncertain significance Single submitter
- CFAP300 p.Ser203Asn Uncertain significance Single submitter
- CFAP300 p.Thr210Ser Uncertain significance Single submitter
All CFAP300 variants
Pathogenic 12
- p.Arg121Ter Multiple submitters ciliary dyskinesia, primary, 38
- p.Gln160Ter Multiple submitters ciliary dyskinesia, primary, 38
- p.Gln52Ter Multiple submitters ciliary dyskinesia, primary, 38
- p.Phe67fs Multiple submitters ciliary dyskinesia, primary, 38
- c.183_192+10del Single submitter
- p.Arg145Ter Single submitter ciliary dyskinesia, primary, 38
- p.Arg163Ter Single submitter
- p.Arg205Ter Single submitter
- p.Gln105Ter Single submitter
- p.Glu97Ter Single submitter
- p.Lys68fs Single submitter ciliary dyskinesia, primary, 38
- p.Tyr232fs No assertion criteria Heterotaxy
Pathogenic/Likely pathogenic 2
- p.Arg144Ter Multiple submitters ciliary dyskinesia, primary, 38
- p.His259Arg Multiple submitters ciliary dyskinesia, primary, 38
Likely pathogenic 6
- c.110+1G>T Single submitter
- c.435+4A>G Single submitter
- c.675+5G>A Single submitter
- p.Asp118Gly Single submitter ciliary dyskinesia, primary, 38 ⚠
- p.Lys59Ter No assertion criteria ciliary dyskinesia, primary, 38
- p.Val263fs No assertion criteria CFAP300-related disorder
Benign 12
- c.110+16A>G Multiple submitters ciliary dyskinesia, primary, 38
- c.192+59A>C Multiple submitters ciliary dyskinesia, primary, 38
- p.Leu6Phe Multiple submitters
- p.Lys199= Multiple submitters
- p.Ser56= Multiple submitters
- c.268+13T>C Single submitter
- c.268+16A>G Single submitter
- p.Ala235= Single submitter
- p.Arg252Cys Single submitter ⚠
- p.Cys103= Single submitter
- p.Pro70= Single submitter
- p.Thr3Ala Single submitter
Likely benign 58
- p.Ser123= Multiple submitters
- c.110+10C>T Single submitter
- c.110+16A>T Single submitter
- c.110+18A>C Single submitter
- c.111-12C>T Single submitter
- c.111-14C>T Single submitter
- c.111-4C>A Single submitter
- c.111-6C>A Single submitter
- c.111-6C>T Single submitter
- c.192+19G>A Single submitter
- c.192+9G>T Single submitter
- c.193-14A>T Single submitter
- c.193-16C>T Single submitter
- c.435+19_435+39dup Single submitter
- c.435+8C>T Single submitter
- c.436-12T>C Single submitter
- c.436-5C>A Single submitter
- c.436-7G>A Single submitter
- c.436-7G>T Single submitter
- c.609-13T>C Single submitter
- c.609-18T>C Single submitter
- c.609-8T>C Single submitter
- c.609-9T>A Single submitter
- c.675+16C>T Single submitter
- c.675+8_675+9del Single submitter
- c.675+8T>G Single submitter
- c.676-19T>C Single submitter
- p.Ala179= Single submitter
- p.Ala45= Single submitter
- p.Ala45Val Single submitter
- p.Arg35= Single submitter
- p.Arg58= Single submitter
- p.Glu239= Single submitter
- p.Glu5= Single submitter
- p.Glu92= Single submitter
- p.Gly10= Single submitter
- p.Gly7= Single submitter
- p.His255= Single submitter
- p.Ile30Val Single submitter
- p.Leu106= Single submitter
- p.Leu143= Single submitter
- p.Leu201= Single submitter
- p.Leu34= Single submitter
- p.Leu40= Single submitter
- p.Leu79= Single submitter
- p.Lys195= Single submitter
- p.Lys59= Single submitter
- p.Lys95= Single submitter
- p.Phe158= Single submitter
- p.Phe62= Single submitter
- p.Pro189= Single submitter
- p.Ser152= Single submitter
- p.Ser218= Single submitter
- p.Ser27= Single submitter
- p.Tyr190= Single submitter
- p.Tyr244= Single submitter
- p.Tyr261= Single submitter
- p.Phe67del No assertion criteria CFAP300-related disorder
Uncertain significance 28
- c.110+15_110+16inv Single submitter
- p.Ala235Thr Single submitter ⚠
- p.Arg252His Single submitter Inborn genetic diseases ⚠
- p.Asn100Ser Single submitter ⚠
- p.Asn237Ile Single submitter ⚠
- p.Cys129Arg Single submitter ⚠
- p.Cys175Phe Single submitter ⚠
- p.Glu239Asp Single submitter Inborn genetic diseases ⚠
- p.Gly10_Gly11insLeuGly Single submitter
- p.His253Tyr Single submitter ⚠
- p.Lys195Asn Single submitter ⚠
- p.Met230Ile Single submitter ⚠
- p.Met230Val Single submitter ⚠
- p.Met39Leu Single submitter ⚠
- p.Phe14Cys Single submitter Inborn genetic diseases ⚠
- p.Phe14Leu Single submitter ciliary dyskinesia, primary, 38 ⚠
- p.Phe62Ser Single submitter ⚠
- p.Pro102Ser Single submitter ⚠
- p.Ser123Gly Single submitter ⚠
- p.Ser203Asn Single submitter ⚠
- p.Ser234Thr Single submitter ⚠
- p.Ser26Thr Single submitter ⚠
- p.Thr210Ser Single submitter ⚠
- p.Thr216Ile Single submitter ⚠
- p.Val101Ala Single submitter ⚠
- p.Val204Phe Single submitter ⚠
- p.Val222Asp Single submitter ⚠
- p.Val256Ile Single submitter ⚠