CCDC65 — 29 ClinVar variants
All ClinVar germline CCDC65 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Likely pathogenic · 5 Benign · 5 Likely benign · 18 Uncertain significance
Full CCDC65 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 6
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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CCDC65 p.Lys158Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
CCDC65 p.Ala335Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
CCDC65 p.Glu108Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
CCDC65 p.His122Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC65 p.Leu19Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
CCDC65 p.Met280Thr
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 7
The independent predictors disagree with each other — read with care.
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CCDC65 p.Arg70Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCDC65 p.Glu110Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCDC65 p.Arg291Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
CCDC65 p.Arg315Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC65 p.Asp173His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC65 p.Val363Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
CCDC65 p.Val445Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All CCDC65 variants
Likely pathogenic 1
- p.Tyr292Ter Single submitter primary ciliary dyskinesia 27
Benign 5
- c.132+186G>T Multiple submitters
- c.-61G>A Multiple submitters
- c.1026+265C>T Single submitter
- c.*88_*89dup Single submitter
- c.*89dup Single submitter
Likely benign 5
- c.1027-64C>A Single submitter
- c.610-8C>T Single submitter
- p.Arg284= Single submitter
- p.Ile346= Single submitter
- p.Ser54= Single submitter
Uncertain significance 18
- p.Arg70Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu110Lys Multiple submitters Inborn genetic diseases ⚠
- p.Lys158Asn Multiple submitters primary ciliary dyskinesia 27 ⚠
- c.609+5G>A Single submitter primary ciliary dyskinesia 27
- c.807+5G>A Single submitter primary ciliary dyskinesia 27
- p.Ala335Val Single submitter primary ciliary dyskinesia 27 ⚠
- p.Arg291Trp Single submitter primary ciliary dyskinesia 27 ⚠
- p.Arg315Trp Single submitter Inborn genetic diseases ⚠
- p.Asp173His Single submitter Inborn genetic diseases ⚠
- p.Glu108Lys Single submitter primary ciliary dyskinesia 27 ⚠
- p.Glu51del Single submitter primary ciliary dyskinesia 27
- p.His122Asn Single submitter Inborn genetic diseases ⚠
- p.Leu19Arg Single submitter primary ciliary dyskinesia 27 ⚠
- p.Met280Thr Single submitter Inborn genetic diseases ⚠
- p.Phe457fs Single submitter primary ciliary dyskinesia 27
- p.Ter485= Single submitter primary ciliary dyskinesia 27
- p.Val363Leu Single submitter primary ciliary dyskinesia 27 ⚠
- p.Val445Leu Single submitter Inborn genetic diseases ⚠