CCDC112 — 76 ClinVar variants
All ClinVar germline CCDC112 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
5 Benign · 4 Likely benign · 67 Uncertain significance
Full CCDC112 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC112 p.Ala165Val Uncertain significance Single submitter
- CCDC112 p.Ala299Ser Uncertain significance Single submitter
- CCDC112 p.Arg391Leu Uncertain significance Single submitter
- CCDC112 p.Asn338Ser Uncertain significance Single submitter
- CCDC112 p.Asn94Ser Uncertain significance Single submitter
- CCDC112 p.Asp455Asn Uncertain significance Single submitter
- CCDC112 p.Gln284Arg Uncertain significance Single submitter
- CCDC112 p.Gln364Lys Uncertain significance Single submitter
- CCDC112 p.Glu153Ala Uncertain significance Single submitter
- CCDC112 p.Glu209Asp Uncertain significance Single submitter
- CCDC112 p.Glu384Gln Uncertain significance Single submitter
- CCDC112 p.His447Arg Uncertain significance Single submitter
- CCDC112 p.His447Asn Uncertain significance Single submitter
- CCDC112 p.His512Arg Uncertain significance Single submitter
- CCDC112 p.Ile101Val Uncertain significance Single submitter
- CCDC112 p.Ile215Thr Uncertain significance Single submitter
- CCDC112 p.Ile513Met Uncertain significance Single submitter
- CCDC112 p.Ile513Val Uncertain significance Single submitter
- CCDC112 p.Leu377Ile Uncertain significance Single submitter
- CCDC112 p.Leu449Val Uncertain significance Single submitter
- CCDC112 p.Leu454Ile Uncertain significance Single submitter
- CCDC112 p.Leu511Val Uncertain significance Single submitter
- CCDC112 p.Met371Val Uncertain significance Single submitter
- CCDC112 p.Phe212Ser Uncertain significance Single submitter
- CCDC112 p.Pro220Arg Uncertain significance Single submitter
- CCDC112 p.Pro333Ser Uncertain significance Single submitter
- CCDC112 p.Ser104Asn Uncertain significance Single submitter
- CCDC112 p.Ser403Thr Uncertain significance Single submitter
- CCDC112 p.Thr228Ser Uncertain significance Single submitter
- CCDC112 p.Thr243Ser Uncertain significance Single submitter
- CCDC112 p.Val221Ile Uncertain significance Single submitter
- CCDC112 p.Val233Glu Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- CCDC112 p.Ala434Pro Uncertain significance Single submitter
- CCDC112 p.Arg391Cys Uncertain significance Single submitter
- CCDC112 p.Arg391His Uncertain significance Single submitter
- CCDC112 p.Arg393Leu Uncertain significance Single submitter
- CCDC112 p.Asn111His Uncertain significance Single submitter
- CCDC112 p.Asn257Lys Uncertain significance Single submitter
- CCDC112 p.Asp251Val Uncertain significance Single submitter
- CCDC112 p.Asp445Val Uncertain significance Single submitter
- CCDC112 p.Gln316His Uncertain significance Single submitter
- CCDC112 p.Gln317Arg Benign Single submitter
- CCDC112 p.Glu171Asp Uncertain significance Single submitter
- CCDC112 p.Glu190Gln Uncertain significance Single submitter
- CCDC112 p.Glu437Asp Uncertain significance Single submitter
- CCDC112 p.Glu475Val Uncertain significance Single submitter
- CCDC112 p.Ile114Phe Uncertain significance Single submitter
- CCDC112 p.Ile194Met Uncertain significance Single submitter
- CCDC112 p.Ile308Val Uncertain significance Single submitter
- CCDC112 p.Leu276Pro Uncertain significance Single submitter
- CCDC112 p.Leu300Val Uncertain significance Single submitter
- CCDC112 p.Lys268Glu Uncertain significance Single submitter
- CCDC112 p.Lys408Arg Uncertain significance Single submitter
- CCDC112 p.Lys432Asn Uncertain significance Single submitter
- CCDC112 p.Phe239Leu Uncertain significance Single submitter
- CCDC112 p.Pro485His Uncertain significance Single submitter
- CCDC112 p.Ser370Pro Uncertain significance Single submitter
- CCDC112 p.Ser486Cys Uncertain significance Single submitter
- CCDC112 p.Ser507Cys Uncertain significance Single submitter
- CCDC112 p.Thr520Ile Uncertain significance Single submitter
- CCDC112 p.Tyr404Cys Uncertain significance Single submitter
- CCDC112 p.Val334Met Likely benign Single submitter
All CCDC112 variants
Benign 5
Likely benign 4
- p.Arg319Lys Single submitter
- p.His115Asn Single submitter
- p.Pro52Ser Single submitter
- p.Val334Met Single submitter ⚠
Uncertain significance 67
- p.Ala165Val Single submitter ⚠
- p.Ala299Ser Single submitter ⚠
- p.Ala434Pro Single submitter ⚠
- p.Ala68Pro Single submitter
- p.Arg391Cys Single submitter ⚠
- p.Arg391His Single submitter ⚠
- p.Arg391Leu Single submitter ⚠
- p.Arg393Leu Single submitter ⚠
- p.Arg51Cys Single submitter
- p.Asn111His Single submitter ⚠
- p.Asn257Lys Single submitter ⚠
- p.Asn338Ser Single submitter ⚠
- p.Asn94Ser Single submitter ⚠
- p.Asp251Val Single submitter ⚠
- p.Asp445Val Single submitter ⚠
- p.Asp455Asn Single submitter ⚠
- p.Gln284Arg Single submitter ⚠
- p.Gln316His Single submitter ⚠
- p.Gln364Lys Single submitter ⚠
- p.Glu153Ala Single submitter ⚠
- p.Glu171Asp Single submitter ⚠
- p.Glu190Gln Single submitter ⚠
- p.Glu209Asp Single submitter ⚠
- p.Glu384Gln Single submitter ⚠
- p.Glu437Asp Single submitter ⚠
- p.Glu475Val Single submitter ⚠
- p.His447Arg Single submitter ⚠
- p.His447Asn Single submitter ⚠
- p.His512Arg Single submitter ⚠
- p.His54Arg Single submitter
- p.Ile101Val Single submitter ⚠
- p.Ile114Phe Single submitter ⚠
- p.Ile194Met Single submitter ⚠
- p.Ile215Thr Single submitter ⚠
- p.Ile308Val Single submitter ⚠
- p.Ile513Met Single submitter ⚠
- p.Ile513Val Single submitter ⚠
- p.Leu276Pro Single submitter ⚠
- p.Leu300Val Single submitter ⚠
- p.Leu377Ile Single submitter ⚠
- p.Leu449Val Single submitter ⚠
- p.Leu454Ile Single submitter ⚠
- p.Leu511Val Single submitter ⚠
- p.Lys268Glu Single submitter ⚠
- p.Lys408Arg Single submitter ⚠
- p.Lys432Asn Single submitter ⚠
- p.Met371Val Single submitter ⚠
- p.Met84Lys Single submitter
- p.Phe212Ser Single submitter ⚠
- p.Phe239Leu Single submitter ⚠
- p.Pro220Arg Single submitter ⚠
- p.Pro333Ser Single submitter ⚠
- p.Pro485His Single submitter ⚠
- p.Ser104Asn Single submitter ⚠
- p.Ser370Pro Single submitter ⚠
- p.Ser403Thr Single submitter ⚠
- p.Ser486Cys Single submitter ⚠
- p.Ser507Cys Single submitter ⚠
- p.Thr228Ser Single submitter ⚠
- p.Thr243Ser Single submitter ⚠
- p.Thr520Ile Single submitter ⚠
- p.Thr65Ser Single submitter
- p.Thr73Arg Single submitter
- p.Tyr404Cys Single submitter ⚠
- p.Val221Ile Single submitter ⚠
- p.Val233Glu Single submitter ⚠
- p.Val81Ile Single submitter