CCDC68 — 44 ClinVar variants
All ClinVar germline CCDC68 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Likely pathogenic · 1 Likely benign · 42 Uncertain significance
Full CCDC68 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC68 p.Arg13Gly Uncertain significance Single submitter
- CCDC68 p.Arg208Ile Uncertain significance Single submitter
- CCDC68 p.Arg258Cys Uncertain significance Single submitter
- CCDC68 p.Arg258Gly Uncertain significance Single submitter
- CCDC68 p.Arg258His Uncertain significance Single submitter
- CCDC68 p.Arg258Ser Uncertain significance Single submitter
- CCDC68 p.Arg41Gln Uncertain significance Single submitter
- CCDC68 p.Asp18Asn Uncertain significance Single submitter
- CCDC68 p.Gln169Leu Uncertain significance Single submitter
- CCDC68 p.Glu35Lys Uncertain significance Single submitter
- CCDC68 p.Glu55Lys Uncertain significance Single submitter
- CCDC68 p.Ile243Leu Uncertain significance Single submitter
- CCDC68 p.Leu103Ser Uncertain significance Single submitter
- CCDC68 p.Leu65Val Uncertain significance Single submitter
- CCDC68 p.Leu73Val Uncertain significance Single submitter
- CCDC68 p.Lys160Asn Uncertain significance Single submitter
- CCDC68 p.Lys38Glu Uncertain significance Single submitter
- CCDC68 p.Met81Leu Uncertain significance Single submitter
- CCDC68 p.Ser186Gly Uncertain significance Single submitter
- CCDC68 p.Ser303Cys Uncertain significance Single submitter
- CCDC68 p.Thr140Met Uncertain significance Single submitter
- CCDC68 p.Thr204Lys Uncertain significance Single submitter
- CCDC68 p.Tyr138His Uncertain significance Single submitter
- CCDC68 p.Val177Ile Uncertain significance Single submitter
- CCDC68 p.Val310Ala Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CCDC68 p.Arg41Leu Uncertain significance Single submitter
- CCDC68 p.Asn292Lys Uncertain significance Single submitter
- CCDC68 p.Asn292Ser Uncertain significance Single submitter
- CCDC68 p.Asp275Gly Uncertain significance Single submitter
- CCDC68 p.Asp99Tyr Uncertain significance Single submitter
- CCDC68 p.Gln240His Uncertain significance Single submitter
- CCDC68 p.Glu164Lys Uncertain significance Single submitter
- CCDC68 p.Glu265Lys Uncertain significance Single submitter
- CCDC68 p.His245Tyr Uncertain significance Single submitter
- CCDC68 p.Leu239Phe Uncertain significance Single submitter
- CCDC68 p.Lys180Asn Uncertain significance Single submitter
- CCDC68 p.Lys98Arg Uncertain significance Single submitter
- CCDC68 p.Ser119Pro Uncertain significance Single submitter
- CCDC68 p.Ser222Arg Uncertain significance Single submitter
- CCDC68 p.Ser259Arg Uncertain significance Single submitter
- CCDC68 p.Thr26Ala Uncertain significance Single submitter
- CCDC68 p.Thr26Met Uncertain significance Single submitter
All CCDC68 variants
Likely pathogenic 1
- p.Ser259fs No assertion criteria Recurrent spontaneous abortion
Likely benign 1
- p.Thr49Asn Single submitter
Uncertain significance 42
- p.Arg13Gly Single submitter ⚠
- p.Arg208Ile Single submitter ⚠
- p.Arg258Cys Single submitter ⚠
- p.Arg258Gly Single submitter ⚠
- p.Arg258His Single submitter ⚠
- p.Arg258Ser Single submitter ⚠
- p.Arg41Gln Single submitter ⚠
- p.Arg41Leu Single submitter ⚠
- p.Asn292Lys Single submitter ⚠
- p.Asn292Ser Single submitter ⚠
- p.Asp18Asn Single submitter ⚠
- p.Asp275Gly Single submitter ⚠
- p.Asp99Tyr Single submitter ⚠
- p.Gln169Leu Single submitter ⚠
- p.Gln240His Single submitter ⚠
- p.Glu164Lys Single submitter ⚠
- p.Glu265Lys Single submitter ⚠
- p.Glu35Lys Single submitter ⚠
- p.Glu55Lys Single submitter ⚠
- p.His245Tyr Single submitter ⚠
- p.Ile243Leu Single submitter ⚠
- p.Leu103Ser Single submitter ⚠
- p.Leu239Phe Single submitter ⚠
- p.Leu65Val Single submitter ⚠
- p.Leu73Val Single submitter ⚠
- p.Lys160Asn Single submitter ⚠
- p.Lys180Asn Single submitter ⚠
- p.Lys38Glu Single submitter ⚠
- p.Lys98Arg Single submitter ⚠
- p.Met81Leu Single submitter ⚠
- p.Ser119Pro Single submitter ⚠
- p.Ser186Gly Single submitter ⚠
- p.Ser222Arg Single submitter ⚠
- p.Ser259Arg Single submitter ⚠
- p.Ser303Cys Single submitter ⚠
- p.Thr140Met Single submitter ⚠
- p.Thr204Lys Single submitter ⚠
- p.Thr26Ala Single submitter ⚠
- p.Thr26Met Single submitter ⚠
- p.Tyr138His Single submitter ⚠
- p.Val177Ile Single submitter ⚠
- p.Val310Ala Single submitter ⚠