CCDC172 — 41 ClinVar variants
All ClinVar germline CCDC172 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
3 Likely benign · 38 Uncertain significance
Full CCDC172 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC172 p.Ala75Asp Uncertain significance Single submitter
- CCDC172 p.Ala75Thr Uncertain significance Single submitter
- CCDC172 p.Arg33Ser Uncertain significance Single submitter
- CCDC172 p.Asp114Asn Uncertain significance Single submitter
- CCDC172 p.Asp230Asn Uncertain significance Single submitter
- CCDC172 p.Gln160Arg Uncertain significance Single submitter
- CCDC172 p.Gln8Glu Uncertain significance Single submitter
- CCDC172 p.Glu208Gly Uncertain significance Single submitter
- CCDC172 p.Glu47Lys Uncertain significance Single submitter
- CCDC172 p.His86Arg Uncertain significance Single submitter
- CCDC172 p.Ile204Met Uncertain significance Single submitter
- CCDC172 p.Ile38Val Uncertain significance Single submitter
- CCDC172 p.Ile50Met Uncertain significance Single submitter
- CCDC172 p.Leu52Pro Uncertain significance Single submitter
- CCDC172 p.Leu68Phe Uncertain significance Single submitter
- CCDC172 p.Met146Val Uncertain significance Single submitter
- CCDC172 p.Met154Ile Uncertain significance Single submitter
- CCDC172 p.Phe94Tyr Uncertain significance Single submitter
- CCDC172 p.Ser257Ile Uncertain significance Single submitter
- CCDC172 p.Ser63Phe Uncertain significance Single submitter
- CCDC172 p.Thr196Ala Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- CCDC172 p.Arg35Cys Uncertain significance Single submitter
- CCDC172 p.Gln100His Uncertain significance Single submitter
- CCDC172 p.Gln100Pro Uncertain significance Single submitter
- CCDC172 p.Gln167His Uncertain significance Single submitter
- CCDC172 p.Glu155Asp Uncertain significance Single submitter
- CCDC172 p.Glu215Gly Uncertain significance Single submitter
- CCDC172 p.Glu48Gly Uncertain significance Single submitter
- CCDC172 p.His156Pro Uncertain significance Single submitter
- CCDC172 p.Leu178Ile Uncertain significance Single submitter
- CCDC172 p.Lys220Thr Uncertain significance Single submitter
- CCDC172 p.Lys221Arg Uncertain significance Single submitter
- CCDC172 p.Ser138Tyr Uncertain significance Single submitter
- CCDC172 p.Ser20Gly Uncertain significance Single submitter
- CCDC172 p.Ser54Phe Uncertain significance Single submitter
- CCDC172 p.Thr122Arg Uncertain significance Single submitter
- CCDC172 p.Thr248Ile Uncertain significance Single submitter
All CCDC172 variants
Likely benign 3
- p.Asp106Glu Single submitter
- p.Ile102Thr Single submitter
- p.Tyr80Cys Single submitter
Uncertain significance 38
- p.Ala75Asp Single submitter ⚠
- p.Ala75Thr Single submitter ⚠
- p.Arg33Ser Single submitter ⚠
- p.Arg35Cys Single submitter ⚠
- p.Asp114Asn Single submitter ⚠
- p.Asp230Asn Single submitter ⚠
- p.Gln100His Single submitter ⚠
- p.Gln100Pro Single submitter ⚠
- p.Gln160Arg Single submitter ⚠
- p.Gln167His Single submitter ⚠
- p.Gln8Glu Single submitter ⚠
- p.Glu155Asp Single submitter ⚠
- p.Glu208Gly Single submitter ⚠
- p.Glu215Gly Single submitter ⚠
- p.Glu47Lys Single submitter ⚠
- p.Glu48Gly Single submitter ⚠
- p.His156Pro Single submitter ⚠
- p.His86Arg Single submitter ⚠
- p.Ile204Met Single submitter ⚠
- p.Ile38Val Single submitter ⚠
- p.Ile50Met Single submitter ⚠
- p.Leu178Ile Single submitter ⚠
- p.Leu52Pro Single submitter ⚠
- p.Leu68Phe Single submitter ⚠
- p.Lys220Thr Single submitter ⚠
- p.Lys221Arg Single submitter ⚠
- p.Met146Val Single submitter ⚠
- p.Met154Ile Single submitter ⚠
- p.Phe94Tyr Single submitter ⚠
- p.Ser138Tyr Single submitter ⚠
- p.Ser20Gly Single submitter ⚠
- p.Ser257Ile Single submitter ⚠
- p.Ser54Phe Single submitter ⚠
- p.Ser63Phe Single submitter ⚠
- p.Thr122Arg Single submitter ⚠
- p.Thr196Ala Single submitter ⚠
- p.Thr248Ile Single submitter ⚠
- p.Lys98fs No assertion criteria Meckel syndrome