CCDC34 — 41 ClinVar variants
All ClinVar germline CCDC34 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 2 Likely benign · 36 Uncertain significance
Full CCDC34 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC34 p.Ala100Val Uncertain significance Single submitter
- CCDC34 p.Ala20Thr Uncertain significance Single submitter
- CCDC34 p.Arg136His Uncertain significance Single submitter
- CCDC34 p.Arg141His Uncertain significance Single submitter
- CCDC34 p.Arg141Leu Uncertain significance Single submitter
- CCDC34 p.Arg41Leu Uncertain significance Single submitter
- CCDC34 p.Arg64Gly Uncertain significance Single submitter
- CCDC34 p.Cys22Gly Uncertain significance Single submitter
- CCDC34 p.Cys22Trp Uncertain significance Single submitter
- CCDC34 p.Gln116Arg Uncertain significance Single submitter
- CCDC34 p.Glu114Gly Uncertain significance Single submitter
- CCDC34 p.Glu46Gly Uncertain significance Single submitter
- CCDC34 p.Glu93Asp Uncertain significance Single submitter
- CCDC34 p.Ile187Val Uncertain significance Single submitter
- CCDC34 p.Leu168Phe Uncertain significance Single submitter
- CCDC34 p.Leu66Val Uncertain significance Single submitter
- CCDC34 p.Pro28Leu Uncertain significance Single submitter
- CCDC34 p.Ser34Pro Uncertain significance Single submitter
- CCDC34 p.Ser52Leu Uncertain significance Single submitter
- CCDC34 p.Ser52Pro Uncertain significance Single submitter
- CCDC34 p.Thr38Met Uncertain significance Single submitter
- CCDC34 p.Val147Leu Uncertain significance Single submitter
- CCDC34 p.Val48Leu Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CCDC34 p.Ala297Asp Uncertain significance Single submitter
- CCDC34 p.Arg159Gln Uncertain significance Single submitter
- CCDC34 p.Arg27Trp Uncertain significance Single submitter
- CCDC34 p.Glu167Ala Uncertain significance Single submitter
- CCDC34 p.Glu173Gly Uncertain significance Single submitter
- CCDC34 p.Glu190Gly Uncertain significance Single submitter
- CCDC34 p.Gly82Arg Uncertain significance Single submitter
- CCDC34 p.His192Asn Uncertain significance Single submitter
- CCDC34 p.Lys233Asn Uncertain significance Single submitter
- CCDC34 p.Ser14Phe Uncertain significance Single submitter
- CCDC34 p.Ser29Phe Uncertain significance Single submitter
- CCDC34 p.Ser58Arg Uncertain significance Single submitter
- CCDC34 p.Val196Ala Uncertain significance Single submitter
All CCDC34 variants
Pathogenic 2
- p.Asn244fs No assertion criteria spermatogenic failure 76
- p.Glu267fs No assertion criteria spermatogenic failure 76
Likely pathogenic 1
- c.615_619delAGAAA Single submitter spermatogenic failure 76
Likely benign 2
- p.Gln202Glu Single submitter
- p.Met113Val Single submitter
Uncertain significance 36
- p.Ala100Val Single submitter ⚠
- p.Ala20Thr Single submitter ⚠
- p.Ala297Asp Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg141His Single submitter ⚠
- p.Arg141Leu Single submitter ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg27Trp Single submitter ⚠
- p.Arg41Leu Single submitter ⚠
- p.Arg64Gly Single submitter ⚠
- p.Cys22Gly Single submitter ⚠
- p.Cys22Trp Single submitter ⚠
- p.Gln116Arg Single submitter ⚠
- p.Glu114Gly Single submitter ⚠
- p.Glu167Ala Single submitter ⚠
- p.Glu173Gly Single submitter ⚠
- p.Glu190Gly Single submitter ⚠
- p.Glu46Gly Single submitter ⚠
- p.Glu93Asp Single submitter ⚠
- p.Gly82Arg Single submitter ⚠
- p.His192Asn Single submitter ⚠
- p.Ile187Val Single submitter ⚠
- p.Leu168Phe Single submitter ⚠
- p.Leu66Val Single submitter ⚠
- p.Lys233Asn Single submitter ⚠
- p.Pro28Leu Single submitter ⚠
- p.Ser14Phe Single submitter ⚠
- p.Ser29Phe Single submitter ⚠
- p.Ser34Pro Single submitter ⚠
- p.Ser52Leu Single submitter ⚠
- p.Ser52Pro Single submitter ⚠
- p.Ser58Arg Single submitter ⚠
- p.Thr38Met Single submitter ⚠
- p.Val147Leu Single submitter ⚠
- p.Val196Ala Single submitter ⚠
- p.Val48Leu Single submitter ⚠