CCDC70 — 57 ClinVar variants
All ClinVar germline CCDC70 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
3 Likely benign · 54 Uncertain significance
Full CCDC70 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC70 c.-14G>A Uncertain significance Single submitter
- CCDC70 c.-24C>T Uncertain significance Single submitter
- CCDC70 p.Ala208Thr Uncertain significance Single submitter
- CCDC70 p.Ala39Pro Uncertain significance Single submitter
- CCDC70 p.Ala39Ser Uncertain significance Single submitter
- CCDC70 p.Arg115His Uncertain significance Single submitter
- CCDC70 p.Arg136Gln Uncertain significance Single submitter
- CCDC70 p.Arg136Trp Uncertain significance Single submitter
- CCDC70 p.Arg213Cys Uncertain significance Single submitter
- CCDC70 p.Arg213His Uncertain significance Single submitter
- CCDC70 p.Arg213Leu Uncertain significance Single submitter
- CCDC70 p.Arg213Ser Uncertain significance Single submitter
- CCDC70 p.Arg219Gly Uncertain significance Single submitter
- CCDC70 p.Arg26Cys Uncertain significance Single submitter
- CCDC70 p.Arg41His Uncertain significance Single submitter
- CCDC70 p.Arg69Gln Uncertain significance Single submitter
- CCDC70 p.Arg69Trp Uncertain significance Single submitter
- CCDC70 p.Asn129Tyr Uncertain significance Single submitter
- CCDC70 p.Asn178Lys Uncertain significance Single submitter
- CCDC70 p.Asn192Ser Uncertain significance Single submitter
- CCDC70 p.Asn207Lys Uncertain significance Single submitter
- CCDC70 p.Asp121Glu Uncertain significance Single submitter
- CCDC70 p.Asp169His Uncertain significance Single submitter
- CCDC70 p.Gln199Arg Uncertain significance Single submitter
- CCDC70 p.Glu141Asp Uncertain significance Single submitter
- CCDC70 p.Glu148Gln Uncertain significance Single submitter
- CCDC70 p.Glu148Lys Uncertain significance Single submitter
- CCDC70 p.Glu155Gln Uncertain significance Single submitter
- CCDC70 p.Glu190Asp Uncertain significance Single submitter
- CCDC70 p.Glu78Lys Uncertain significance Single submitter
- CCDC70 p.Gly211Glu Uncertain significance Single submitter
- CCDC70 p.Ile25Phe Uncertain significance Single submitter
- CCDC70 p.Ile25Thr Uncertain significance Single submitter
- CCDC70 p.Leu138Phe Uncertain significance Single submitter
- CCDC70 p.Leu139Phe Uncertain significance Single submitter
- CCDC70 p.Lys45Asn Uncertain significance Single submitter
- CCDC70 p.Lys50Glu Uncertain significance Single submitter
- CCDC70 p.Lys5Arg Uncertain significance Single submitter
- CCDC70 p.Lys5Gln Uncertain significance Single submitter
- CCDC70 p.Lys5Glu Uncertain significance Single submitter
- CCDC70 p.Met1Lys Uncertain significance Single submitter
- CCDC70 p.Met31Thr Uncertain significance Single submitter
- CCDC70 p.Met31Val Uncertain significance Single submitter
- CCDC70 p.Met44Leu Uncertain significance Single submitter
- CCDC70 p.Phe61Cys Uncertain significance Single submitter
- CCDC70 p.Phe61Ser Uncertain significance Single submitter
- CCDC70 p.Phe96Cys Uncertain significance Single submitter
- CCDC70 p.Pro81Ser Uncertain significance Single submitter
- CCDC70 p.Ser24Gly Uncertain significance Single submitter
- CCDC70 p.Trp83Arg Uncertain significance Single submitter
- CCDC70 p.Trp97Leu Uncertain significance Single submitter
- CCDC70 p.Val154Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All CCDC70 variants
Likely benign 3
- p.Ala19Val Single submitter
- p.Gly197Arg Single submitter
- p.Thr109Ala Single submitter
Uncertain significance 54
- c.-14G>A Single submitter ⚠
- c.-24C>T Single submitter ⚠
- p.Ala208Thr Single submitter ⚠
- p.Ala39Pro Single submitter ⚠
- p.Ala39Ser Single submitter ⚠
- p.Arg115His Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg213Cys Single submitter ⚠
- p.Arg213His Single submitter ⚠
- p.Arg213Leu Single submitter ⚠
- p.Arg213Ser Single submitter ⚠
- p.Arg219Gly Single submitter ⚠
- p.Arg26Cys Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Arg69Trp Single submitter ⚠
- p.Asn129Tyr Single submitter ⚠
- p.Asn178Lys Single submitter ⚠
- p.Asn192Ser Single submitter ⚠
- p.Asn207Lys Single submitter ⚠
- p.Asp121Glu Single submitter ⚠
- p.Asp169His Single submitter ⚠
- p.Gln199Arg Single submitter ⚠
- p.Glu141Asp Single submitter ⚠
- p.Glu148Gln Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Glu155Gln Single submitter ⚠
- p.Glu190Asp Single submitter ⚠
- p.Glu78Lys Single submitter ⚠
- p.Gly211Glu Single submitter ⚠
- p.Ile25Phe Single submitter ⚠
- p.Ile25Thr Single submitter ⚠
- p.Leu138Phe Single submitter ⚠
- p.Leu139Phe Single submitter ⚠
- p.Leu160Pro Single submitter
- p.Lys45Asn Single submitter ⚠
- p.Lys50Glu Single submitter ⚠
- p.Lys5Arg Single submitter ⚠
- p.Lys5Gln Single submitter ⚠
- p.Lys5Glu Single submitter ⚠
- p.Met1Lys Single submitter ⚠
- p.Met31Thr Single submitter ⚠
- p.Met31Val Single submitter ⚠
- p.Met44Leu Single submitter ⚠
- p.Phe54Leu Single submitter ⚠
- p.Phe61Cys Single submitter ⚠
- p.Phe61Ser Single submitter ⚠
- p.Phe96Cys Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Ser24Gly Single submitter ⚠
- p.Trp83Arg Single submitter ⚠
- p.Trp97Leu Single submitter ⚠
- p.Val154Ala Single submitter ⚠