CCDC186 — 118 ClinVar variants
All ClinVar germline CCDC186 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →
1 Pathogenic · 2 Benign · 4 Likely benign · 111 Uncertain significance
Full CCDC186 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 106
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 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CCDC186 p.Ala102Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ala531Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ala543Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ala600Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ala65Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ala688Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg293Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg305His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg359Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg457Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg514Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg733Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg739Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Asn132Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Asn33Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Asn607Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Asn752Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Asp379Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Asp738Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Cys618Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Gln306Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Gln653Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Glu129Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Gly76Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.His178Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.His178Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.His189Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.His477Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.His823Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ile118Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ile153Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ile208Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ile375Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ile378Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ile779Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ile786Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ile852Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Leu22Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Leu537Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys107Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys152Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys154Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys357Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys82Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Met184Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Met831Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Phe491Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ser157Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ser710Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Thr126Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Thr173Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Thr371Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Thr371Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Thr83Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Thr863Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Thr879Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Tyr136His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Val115Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Val120Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Val224Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Val392Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Val750Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 44
The independent predictors disagree with each other — read with care.
- CCDC186 p.Arg257Gly Uncertain significance Single submitter
-
CCDC186 p.Arg257Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg269Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg293Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg337Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg359Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg457Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg723His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg883His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Arg894Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Asn281His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Asn298His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Asn348Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Asn853Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Gln610Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Glu236Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Glu295Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CCDC186 p.Glu370Asp Uncertain significance Single submitter
-
CCDC186 p.Glu370Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Glu383Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Glu579Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ile578Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ile691Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Leu484Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Leu846Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Leu891Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys201Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys210Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys239Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys327Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys398Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys583Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Lys821Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Phe149Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ser31Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ser42Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ser718Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Ser98Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Thr173Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Thr503Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Thr596Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Tyr141His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Tyr141Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC186 p.Val652Asp
Uncertain significance
Single submitter
Inborn genetic diseases
All CCDC186 variants
Pathogenic 1
- p.Ser256Ter Single submitter Seizure
Likely benign 4
- p.Asn109Ser Single submitter Inborn genetic diseases
- p.Asn842Ser Single submitter Inborn genetic diseases
- p.Ser87Leu Single submitter Inborn genetic diseases
- p.Val277Ile Single submitter Inborn genetic diseases
Uncertain significance 111
- p.Ala102Ser Single submitter Inborn genetic diseases ⚠
- p.Ala531Thr Single submitter Inborn genetic diseases ⚠
- p.Ala543Gly Single submitter Inborn genetic diseases ⚠
- p.Ala600Thr Single submitter Inborn genetic diseases ⚠
- p.Ala65Val Single submitter Inborn genetic diseases ⚠
- p.Ala688Ser Single submitter Inborn genetic diseases ⚠
- p.Arg179Ter Single submitter CCDC186-related disorder
- p.Arg257Gly Single submitter ⚠
- p.Arg257Ile Single submitter Inborn genetic diseases ⚠
- p.Arg269Gly Single submitter Inborn genetic diseases ⚠
- p.Arg293Gln Single submitter Inborn genetic diseases ⚠
- p.Arg293Trp Single submitter Inborn genetic diseases ⚠
- p.Arg305His Single submitter Inborn genetic diseases ⚠
- p.Arg337Thr Single submitter Inborn genetic diseases ⚠
- p.Arg359Gln Single submitter Inborn genetic diseases ⚠
- p.Arg359Trp Single submitter Inborn genetic diseases ⚠
- p.Arg457Lys Single submitter Inborn genetic diseases ⚠
- p.Arg457Ser Single submitter Inborn genetic diseases ⚠
- p.Arg514Lys Single submitter Inborn genetic diseases ⚠
- p.Arg702Ter Single submitter
- p.Arg723His Single submitter Inborn genetic diseases ⚠
- p.Arg733Gln Single submitter Inborn genetic diseases ⚠
- p.Arg739Gln Single submitter Inborn genetic diseases ⚠
- p.Arg883His Single submitter Inborn genetic diseases ⚠
- p.Arg894Gly Single submitter Inborn genetic diseases ⚠
- p.Asn132Asp Single submitter Inborn genetic diseases ⚠
- p.Asn232fs Single submitter
- p.Asn281His Single submitter Inborn genetic diseases ⚠
- p.Asn298His Single submitter Inborn genetic diseases ⚠
- p.Asn33Ser Single submitter Inborn genetic diseases ⚠
- p.Asn348Lys Single submitter Inborn genetic diseases ⚠
- p.Asn607Asp Single submitter Inborn genetic diseases ⚠
- p.Asn752Asp Single submitter Inborn genetic diseases ⚠
- p.Asn853Ser Single submitter Inborn genetic diseases ⚠
- p.Asp379Glu Single submitter Inborn genetic diseases ⚠
- p.Asp738Asn Single submitter Inborn genetic diseases ⚠
- p.Cys618Arg Single submitter Inborn genetic diseases ⚠
- p.Gln306Arg Single submitter Inborn genetic diseases ⚠
- p.Gln610Leu Single submitter Inborn genetic diseases ⚠
- p.Gln653Arg Single submitter Inborn genetic diseases ⚠
- p.Glu129Lys Single submitter Inborn genetic diseases ⚠
- p.Glu236Lys Single submitter Inborn genetic diseases ⚠
- p.Glu295Val Single submitter Inborn genetic diseases ⚠
- p.Glu370Asp Single submitter ⚠
- p.Glu370Lys Single submitter Inborn genetic diseases ⚠
- p.Glu383Lys Single submitter Inborn genetic diseases ⚠
- p.Glu579Lys Single submitter Inborn genetic diseases ⚠
- p.Gly76Ser Single submitter Inborn genetic diseases ⚠
- p.His178Asp Single submitter Inborn genetic diseases ⚠
- p.His178Tyr Single submitter Inborn genetic diseases ⚠
- p.His189Tyr Single submitter Inborn genetic diseases ⚠
- p.His477Tyr Single submitter Inborn genetic diseases ⚠
- p.His823Arg Single submitter Inborn genetic diseases ⚠
- p.Ile118Met Single submitter Inborn genetic diseases ⚠
- p.Ile153Val Single submitter Inborn genetic diseases ⚠
- p.Ile208Val Single submitter Inborn genetic diseases ⚠
- p.Ile375Val Single submitter Inborn genetic diseases ⚠
- p.Ile378Met Single submitter Inborn genetic diseases ⚠
- p.Ile578Thr Single submitter Inborn genetic diseases ⚠
- p.Ile691Phe Single submitter Inborn genetic diseases ⚠
- p.Ile779Leu Single submitter Inborn genetic diseases ⚠
- p.Ile786Val Single submitter Inborn genetic diseases ⚠
- p.Ile852Thr Single submitter Inborn genetic diseases ⚠
- p.Leu22Ser Single submitter Inborn genetic diseases ⚠
- p.Leu413_Lys414del Single submitter
- p.Leu484Ile Single submitter Inborn genetic diseases ⚠
- p.Leu537Ser Single submitter Inborn genetic diseases ⚠
- p.Leu846Val Single submitter Inborn genetic diseases ⚠
- p.Leu891Arg Single submitter Inborn genetic diseases ⚠
- p.Lys107Glu Single submitter Inborn genetic diseases ⚠
- p.Lys152Glu Single submitter Inborn genetic diseases ⚠
- p.Lys154Asn Single submitter Inborn genetic diseases ⚠
- p.Lys201Thr Single submitter Inborn genetic diseases ⚠
- p.Lys210Thr Single submitter Inborn genetic diseases ⚠
- p.Lys239Glu Single submitter Inborn genetic diseases ⚠
- p.Lys327Asn Single submitter Inborn genetic diseases ⚠
- p.Lys357Glu Single submitter Inborn genetic diseases ⚠
- p.Lys398Arg Single submitter Inborn genetic diseases ⚠
- p.Lys583Arg Single submitter Inborn genetic diseases ⚠
- p.Lys821Gln Single submitter Inborn genetic diseases ⚠
- p.Lys82Glu Single submitter Inborn genetic diseases ⚠
- p.Met184Val Single submitter Inborn genetic diseases ⚠
- p.Met831Val Single submitter Inborn genetic diseases ⚠
- p.Phe149Ser Single submitter Inborn genetic diseases ⚠
- p.Phe491Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser157Leu Single submitter Inborn genetic diseases ⚠
- p.Ser31Cys Single submitter Inborn genetic diseases ⚠
- p.Ser42Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser710Gly Single submitter Inborn genetic diseases ⚠
- p.Ser718Arg Single submitter Inborn genetic diseases ⚠
- p.Ser98Arg Single submitter Inborn genetic diseases ⚠
- p.Thr126Ala Single submitter Inborn genetic diseases ⚠
- p.Thr173Ala Single submitter Inborn genetic diseases ⚠
- p.Thr173Met Single submitter Inborn genetic diseases ⚠
- p.Thr371Ala Single submitter Inborn genetic diseases ⚠
- p.Thr371Lys Single submitter Inborn genetic diseases ⚠
- p.Thr503Ile Single submitter Inborn genetic diseases ⚠
- p.Thr596Ala Single submitter Inborn genetic diseases ⚠
- p.Thr83Arg Single submitter Inborn genetic diseases ⚠
- p.Thr863Met Single submitter Inborn genetic diseases ⚠
- p.Thr879Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr136His Single submitter Inborn genetic diseases ⚠
- p.Tyr141His Single submitter Inborn genetic diseases ⚠
- p.Tyr141Ser Single submitter Inborn genetic diseases ⚠
- p.Val115Ile Single submitter Inborn genetic diseases ⚠
- p.Val120Glu Single submitter Inborn genetic diseases ⚠
- p.Val224Ile Single submitter Inborn genetic diseases ⚠
- p.Val392Gly Single submitter Inborn genetic diseases ⚠
- p.Val652Asp Single submitter Inborn genetic diseases ⚠
- p.Val750Ala Single submitter Inborn genetic diseases ⚠
- p.Gln204Ter No assertion criteria