CCDC15 — 138 ClinVar variants

All ClinVar germline CCDC15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

1 Conflicting · 1 Benign · 9 Likely benign · 127 Uncertain significance

Full CCDC15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CCDC15 p.Gly114Ala Conflicting Single submitter

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.

Predictors split 65

The independent predictors disagree with each other — read with care.

All CCDC15 variants

Conflicting classifications of pathogenicity 1

p.Gly114Ala Single submitter ⚠

Benign 1

p.Pro10= Multiple submitters

Likely benign 9

p.Ala739Val Single submitter
p.Ala753Thr Single submitter
p.Arg542Lys Single submitter ⚠
p.Arg606Gln Single submitter
p.His545= Single submitter
p.Ile384Val Single submitter
p.Phe322Leu Single submitter
p.Thr224Ile Single submitter
p.Tyr696Cys Single submitter ⚠

Uncertain significance 127

p.Arg181Cys Multiple submitters neurodevelopmental disorder ⚠
p.Ala110Thr Single submitter ⚠
p.Ala140Val Single submitter ⚠
p.Ala19Thr Single submitter ⚠
p.Ala44Ser Single submitter ⚠
p.Ala44Val Single submitter ⚠
p.Ala6Thr Single submitter ⚠
p.Ala815Ser Single submitter ⚠
p.Ala916Glu Single submitter ⚠
p.Arg181His Single submitter ⚠
p.Arg183Trp Single submitter ⚠
p.Arg482Gly Single submitter ⚠
p.Arg611Ile Single submitter ⚠
p.Arg770Cys Single submitter ⚠
p.Arg778Gly Single submitter ⚠
p.Arg7Gln Single submitter ⚠
p.Arg90Ter Single submitter neurodevelopmental disorder
p.Arg915Trp Single submitter ⚠
p.Arg946Gln Single submitter ⚠
p.Asn136Ile Single submitter ⚠
p.Asn293Ser Single submitter ⚠
p.Asn36Lys Single submitter ⚠
p.Asn423Ile Single submitter ⚠
p.Asn598Thr Single submitter ⚠
p.Asn909Lys Single submitter ⚠
p.Asp254Glu Single submitter ⚠
p.Asp327Gly Single submitter ⚠
p.Asp425Gly Single submitter ⚠
p.Asp448Asn Single submitter ⚠
p.Asp492Gly Single submitter ⚠
p.Asp492Val Single submitter ⚠
p.Asp538Asn Single submitter ⚠
p.Asp573Val Single submitter ⚠
p.Asp670Gly Single submitter ⚠
p.Cys886Arg Single submitter ⚠
p.Gln102Glu Single submitter ⚠
p.Gln169His Single submitter ⚠
p.Gln368His Single submitter ⚠
p.Gln375Arg Single submitter ⚠
p.Gln382Lys Single submitter ⚠
p.Gln528Arg Single submitter ⚠
p.Gln678Lys Single submitter ⚠
p.Gln773Arg Single submitter ⚠
p.Gln77Glu Single submitter ⚠
p.Gln811Arg Single submitter ⚠
p.Gln872Pro Single submitter ⚠
p.Gln876Arg Single submitter ⚠
p.Glu229Gln Single submitter ⚠
p.Glu316Gly Single submitter ⚠
p.Glu338Gly Single submitter ⚠
p.Glu402Lys Single submitter ⚠
p.Glu685Lys Single submitter ⚠
p.Glu712Val Single submitter ⚠
p.Glu71Gln Single submitter ⚠
p.Glu724Asp Single submitter ⚠
p.Glu852Lys Single submitter ⚠
p.Gly114Val Single submitter ⚠
p.Gly142Ala Single submitter ⚠
p.Gly390Ala Single submitter ⚠
p.Gly889Val Single submitter ⚠
p.His124Gln Single submitter ⚠
p.His321Asp Single submitter ⚠
p.His896Asp Single submitter ⚠
p.His910Gln Single submitter ⚠
p.His918Leu Single submitter ⚠
p.Ile391Thr Single submitter ⚠
p.Ile576Thr Single submitter ⚠
p.Ile622Val Single submitter ⚠
p.Leu125Val Single submitter ⚠
p.Leu32Met Single submitter ⚠
p.Leu400Val Single submitter ⚠
p.Leu658Val Single submitter ⚠
p.Leu719Val Single submitter ⚠
p.Leu775Pro Single submitter ⚠
p.Leu775Val Single submitter ⚠
p.Leu882Ser Single submitter ⚠
p.Leu885Val Single submitter ⚠
p.Lys105Met Single submitter ⚠
p.Lys273Ile Single submitter ⚠
p.Lys422Arg Single submitter ⚠
p.Lys429Thr Single submitter ⚠
p.Lys466Glu Single submitter ⚠
p.Lys667Arg Single submitter ⚠
p.Lys790Glu Single submitter ⚠
p.Lys834Thr Single submitter ⚠
p.Met248Val Single submitter ⚠
p.Met5Val Single submitter ⚠
p.Met823Arg Single submitter ⚠
p.Phe631Ile Single submitter ⚠
p.Phe640Leu Single submitter ⚠
p.Pro134Ser Single submitter ⚠
p.Pro147Ala Single submitter ⚠
p.Pro147Arg Single submitter ⚠
p.Pro148Arg Single submitter ⚠
p.Pro217Leu Single submitter ⚠
p.Pro217Ser Single submitter ⚠
p.Pro22Ser Single submitter ⚠
p.Pro295Ser Single submitter ⚠
p.Pro330Leu Single submitter ⚠
p.Pro41Arg Single submitter ⚠
p.Pro451His Single submitter ⚠
p.Pro525Ser Single submitter ⚠
p.Pro534Leu Single submitter ⚠
p.Pro571Leu Single submitter ⚠
p.Pro587His Single submitter ⚠
p.Pro829Ala Single submitter ⚠
p.Ser121Leu Single submitter ⚠
p.Ser131Cys Single submitter ⚠
p.Ser186Pro Single submitter ⚠
p.Ser25Arg Single submitter ⚠
p.Ser297Gly Single submitter ⚠
p.Ser297Ile Single submitter ⚠
p.Thr126Ile Single submitter ⚠
p.Thr388Ala Single submitter ⚠
p.Thr409Ile Single submitter ⚠
p.Thr421Met Single submitter ⚠
p.Thr733Ile Single submitter ⚠
p.Thr899Ile Single submitter ⚠
p.Tyr255Cys Single submitter ⚠
p.Tyr740His Single submitter ⚠
p.Val267Leu Single submitter ⚠
p.Val28Met Single submitter ⚠
p.Val406Met Single submitter ⚠
p.Val516Ile Single submitter ⚠
p.Val688Met Single submitter ⚠
p.Val761Met Single submitter ⚠
c.901-1G>C No assertion criteria