CCDC134 — 38 ClinVar variants
All ClinVar germline CCDC134 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
1 Pathogenic · 2 Likely benign · 35 Uncertain significance
Full CCDC134 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC134 p.Arg186Gly Uncertain significance Single submitter
- CCDC134 p.Arg224Lys Uncertain significance Single submitter
- CCDC134 p.Arg43Gln Uncertain significance Single submitter
- CCDC134 p.Asn135Ser Uncertain significance Single submitter
- CCDC134 p.Asp185Asn Uncertain significance Single submitter
- CCDC134 p.Asp98Glu Uncertain significance Single submitter
- CCDC134 p.His60Tyr Uncertain significance Single submitter
- CCDC134 p.Ile34Leu Uncertain significance Single submitter
- CCDC134 p.Leu50Gln Uncertain significance Single submitter
- CCDC134 p.Lys198Gln Uncertain significance Single submitter
- CCDC134 p.Lys64Glu Uncertain significance Single submitter
- CCDC134 p.Pro123Leu Uncertain significance Single submitter
- CCDC134 p.Tyr128Ser Uncertain significance Single submitter
- CCDC134 p.Val126Ala Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
-
CCDC134 p.Arg121His
Uncertain significance
Multiple submitters
osteogenesis imperfecta, IIA 22
- CCDC134 p.Ala113Ser Uncertain significance Single submitter
- CCDC134 p.Arg121Cys Uncertain significance Single submitter
- CCDC134 p.Arg186Cys Uncertain significance Single submitter
- CCDC134 p.Arg206His Uncertain significance Single submitter
- CCDC134 p.Arg207Gln Uncertain significance Single submitter
- CCDC134 p.Glu228Ala Uncertain significance Single submitter
- CCDC134 p.Glu99Lys Uncertain significance Single submitter
- CCDC134 p.Gly116Ser Uncertain significance Single submitter
- CCDC134 p.Gly170Glu Uncertain significance Single submitter
- CCDC134 p.Leu48Phe Uncertain significance Single submitter
- CCDC134 p.Leu53Val Uncertain significance Single submitter
- CCDC134 p.Leu66Phe Uncertain significance Single submitter
- CCDC134 p.Pro181Ser Uncertain significance Single submitter
- CCDC134 p.Pro220Ser Uncertain significance Single submitter
- CCDC134 p.Ser227Tyr Uncertain significance Single submitter
- CCDC134 p.Thr187Ile Uncertain significance Single submitter
- CCDC134 p.Val126Met Uncertain significance Single submitter
All CCDC134 variants
Pathogenic 1
- p.Met1Thr Single submitter Severe progressive deforming recessive osteogenesis imperfecta (type III)
Likely benign 2
- p.Arg186His Single submitter
- p.His127= Single submitter
Uncertain significance 35
- p.Arg121His Multiple submitters osteogenesis imperfecta, IIA 22 ⚠
- c.311-6C>T Single submitter
- p.Ala113Ser Single submitter ⚠
- p.Arg121Cys Single submitter ⚠
- p.Arg186Cys Single submitter ⚠
- p.Arg186Gly Single submitter ⚠
- p.Arg206His Single submitter ⚠
- p.Arg207Gln Single submitter ⚠
- p.Arg224Lys Single submitter ⚠
- p.Arg43Gln Single submitter ⚠
- p.Asn135Ser Single submitter ⚠
- p.Asp185Asn Single submitter ⚠
- p.Asp98Glu Single submitter ⚠
- p.Gln226Ter Single submitter osteogenesis imperfecta, IIA 22
- p.Glu228Ala Single submitter ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly116Ser Single submitter ⚠
- p.Gly170Glu Single submitter ⚠
- p.His60Tyr Single submitter ⚠
- p.Ile34Leu Single submitter ⚠
- p.Leu164= Single submitter
- p.Leu48Phe Single submitter ⚠
- p.Leu50Gln Single submitter ⚠
- p.Leu53Val Single submitter ⚠
- p.Leu66Phe Single submitter ⚠
- p.Lys198Gln Single submitter ⚠
- p.Lys64Glu Single submitter ⚠
- p.Pro123Leu Single submitter ⚠
- p.Pro181Ser Single submitter ⚠
- p.Pro220Ser Single submitter ⚠
- p.Ser227Tyr Single submitter ⚠
- p.Thr187Ile Single submitter ⚠
- p.Tyr128Ser Single submitter ⚠
- p.Val126Ala Single submitter ⚠
- p.Val126Met Single submitter ⚠