CCDC122 — 29 ClinVar variants
All ClinVar germline CCDC122 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
29 Uncertain significance
Full CCDC122 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC122 p.Ala82Val Uncertain significance Single submitter
- CCDC122 p.Arg156Gln Uncertain significance Single submitter
- CCDC122 p.Arg249Pro Uncertain significance Single submitter
- CCDC122 p.Asp110Asn Uncertain significance Single submitter
- CCDC122 p.Gln252His Uncertain significance Single submitter
- CCDC122 p.Gln256Glu Uncertain significance Single submitter
- CCDC122 p.Glu112Gly Uncertain significance Single submitter
- CCDC122 p.Glu212Gly Uncertain significance Single submitter
- CCDC122 p.Glu42Gly Uncertain significance Single submitter
- CCDC122 p.Gly177Arg Uncertain significance Single submitter
- CCDC122 p.His227Arg Uncertain significance Single submitter
- CCDC122 p.His238Arg Uncertain significance Single submitter
- CCDC122 p.His56Leu Uncertain significance Single submitter
- CCDC122 p.Ile195Leu Uncertain significance Single submitter
- CCDC122 p.Ile41Thr Uncertain significance Single submitter
- CCDC122 p.Ile83Met Uncertain significance Single submitter
- CCDC122 p.Leu258Ser Uncertain significance Single submitter
- CCDC122 p.Lys106Met Uncertain significance Single submitter
- CCDC122 p.Lys108Gln Uncertain significance Single submitter
- CCDC122 p.Lys43Asn Uncertain significance Single submitter
- CCDC122 p.Lys45Arg Uncertain significance Single submitter
- CCDC122 p.Lys5Thr Uncertain significance Single submitter
- CCDC122 p.Met122Leu Uncertain significance Single submitter
- CCDC122 p.Met165Val Uncertain significance Single submitter
- CCDC122 p.Thr164Ala Uncertain significance Single submitter
- CCDC122 p.Thr197Ser Uncertain significance Single submitter
- CCDC122 p.Tyr125Cys Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CCDC122 variants
Uncertain significance 29
- p.Ala82Val Single submitter ⚠
- p.Arg156Gln Single submitter ⚠
- p.Arg249Pro Single submitter ⚠
- p.Asp110Asn Single submitter ⚠
- p.Gln252His Single submitter ⚠
- p.Gln256Glu Single submitter ⚠
- p.Gln33Pro Single submitter ⚠
- p.Glu112Gly Single submitter ⚠
- p.Glu212Gly Single submitter ⚠
- p.Glu42Gly Single submitter ⚠
- p.Gly177Arg Single submitter ⚠
- p.His227Arg Single submitter ⚠
- p.His238Arg Single submitter ⚠
- p.His56Leu Single submitter ⚠
- p.Ile195Leu Single submitter ⚠
- p.Ile41Thr Single submitter ⚠
- p.Ile83Met Single submitter ⚠
- p.Leu258Ser Single submitter ⚠
- p.Lys106Met Single submitter ⚠
- p.Lys108Gln Single submitter ⚠
- p.Lys228Asn Single submitter ⚠
- p.Lys43Asn Single submitter ⚠
- p.Lys45Arg Single submitter ⚠
- p.Lys5Thr Single submitter ⚠
- p.Met122Leu Single submitter ⚠
- p.Met165Val Single submitter ⚠
- p.Thr164Ala Single submitter ⚠
- p.Thr197Ser Single submitter ⚠
- p.Tyr125Cys Single submitter ⚠