CCDC69 — 54 ClinVar variants
All ClinVar germline CCDC69 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
7 Likely benign · 47 Uncertain significance
Full CCDC69 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC69 p.Ala110Thr Uncertain significance Single submitter
- CCDC69 p.Ala118Glu Uncertain significance Single submitter
- CCDC69 p.Ala118Thr Uncertain significance Single submitter
- CCDC69 p.Ala118Val Uncertain significance Single submitter
- CCDC69 p.Ala75Val Uncertain significance Single submitter
- CCDC69 p.Arg198Gln Uncertain significance Single submitter
- CCDC69 p.Arg229Gln Uncertain significance Single submitter
- CCDC69 p.Arg231His Uncertain significance Single submitter
- CCDC69 p.Asn101Tyr Uncertain significance Single submitter
- CCDC69 p.Asp88Gly Uncertain significance Single submitter
- CCDC69 p.Gln172His Uncertain significance Single submitter
- CCDC69 p.Gln239Lys Uncertain significance Single submitter
- CCDC69 p.Gln76Arg Uncertain significance Single submitter
- CCDC69 p.Glu153Ala Uncertain significance Single submitter
- CCDC69 p.Gly35Ser Uncertain significance Single submitter
- CCDC69 p.Gly99Glu Uncertain significance Single submitter
- CCDC69 p.Leu199Pro Uncertain significance Single submitter
- CCDC69 p.Leu246Val Uncertain significance Single submitter
- CCDC69 p.Leu269Ser Uncertain significance Single submitter
- CCDC69 p.Lys12Asn Uncertain significance Single submitter
- CCDC69 p.Lys253Arg Uncertain significance Single submitter
- CCDC69 p.Met148Lys Uncertain significance Single submitter
- CCDC69 p.Met187Arg Uncertain significance Single submitter
- CCDC69 p.Pro13Thr Uncertain significance Single submitter
- CCDC69 p.Ser157Arg Uncertain significance Single submitter
- CCDC69 p.Ser278Leu Uncertain significance Single submitter
- CCDC69 p.Thr218Asn Uncertain significance Single submitter
- CCDC69 p.Val205Ala Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CCDC69 p.Arg109Gln Likely benign Single submitter
- CCDC69 p.Arg191Cys Uncertain significance Single submitter
- CCDC69 p.Arg191His Uncertain significance Single submitter
- CCDC69 p.Arg248His Uncertain significance Single submitter
- CCDC69 p.Arg258Trp Uncertain significance Single submitter
- CCDC69 p.Arg55Trp Uncertain significance Single submitter
- CCDC69 p.Gln65Arg Uncertain significance Single submitter
- CCDC69 p.Gln93Glu Uncertain significance Single submitter
- CCDC69 p.Glu252Ala Uncertain significance Single submitter
- CCDC69 p.Glu252Gly Uncertain significance Single submitter
- CCDC69 p.Glu266Lys Uncertain significance Single submitter
- CCDC69 p.Glu267Lys Uncertain significance Single submitter
- CCDC69 p.Glu52Asp Uncertain significance Single submitter
- CCDC69 p.Glu68Ala Uncertain significance Single submitter
- CCDC69 p.Glu81Lys Uncertain significance Single submitter
- CCDC69 p.Ile192Val Uncertain significance Single submitter
- CCDC69 p.Lys58Thr Uncertain significance Single submitter
- CCDC69 p.Phe123Ser Uncertain significance Single submitter
- CCDC69 p.Thr217Met Uncertain significance Single submitter
- CCDC69 p.Tyr160Asp Uncertain significance Single submitter
All CCDC69 variants
Likely benign 7
- p.Arg109Gln Single submitter ⚠
- p.Arg18His Single submitter
- p.Arg4Gly Single submitter
- p.Arg55Gln Single submitter
- p.Arg87Gln Single submitter
- p.Leu294= Single submitter
- p.Thr129Ala Single submitter
Uncertain significance 47
- p.Ala110Thr Single submitter ⚠
- p.Ala118Glu Single submitter ⚠
- p.Ala118Thr Single submitter ⚠
- p.Ala118Val Single submitter ⚠
- p.Ala75Val Single submitter ⚠
- p.Arg191Cys Single submitter ⚠
- p.Arg191His Single submitter ⚠
- p.Arg198Gln Single submitter ⚠
- p.Arg229Gln Single submitter ⚠
- p.Arg231His Single submitter ⚠
- p.Arg248His Single submitter ⚠
- p.Arg258Trp Single submitter ⚠
- p.Arg55Trp Single submitter ⚠
- p.Asn101Tyr Single submitter ⚠
- p.Asp88Gly Single submitter ⚠
- p.Gln172His Single submitter ⚠
- p.Gln239Lys Single submitter ⚠
- p.Gln65Arg Single submitter ⚠
- p.Gln76Arg Single submitter ⚠
- p.Gln93Glu Single submitter ⚠
- p.Glu153Ala Single submitter ⚠
- p.Glu252Ala Single submitter ⚠
- p.Glu252Gly Single submitter ⚠
- p.Glu266Lys Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu52Asp Single submitter ⚠
- p.Glu68Ala Single submitter ⚠
- p.Glu81Lys Single submitter ⚠
- p.Gly35Ser Single submitter ⚠
- p.Gly99Glu Single submitter ⚠
- p.Ile192Val Single submitter ⚠
- p.Leu199Pro Single submitter ⚠
- p.Leu246Val Single submitter ⚠
- p.Leu269Ser Single submitter ⚠
- p.Lys12Asn Single submitter ⚠
- p.Lys253Arg Single submitter ⚠
- p.Lys58Thr Single submitter ⚠
- p.Met148Lys Single submitter ⚠
- p.Met187Arg Single submitter ⚠
- p.Phe123Ser Single submitter ⚠
- p.Pro13Thr Single submitter ⚠
- p.Ser157Arg Single submitter ⚠
- p.Ser278Leu Single submitter ⚠
- p.Thr217Met Single submitter ⚠
- p.Thr218Asn Single submitter ⚠
- p.Tyr160Asp Single submitter ⚠
- p.Val205Ala Single submitter ⚠