CCDC30 — 96 ClinVar variants
All ClinVar germline CCDC30 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →
7 Likely benign · 89 Uncertain significance
Full CCDC30 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 90
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 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC30 p.Ala226Val Uncertain significance Single submitter
- CCDC30 p.Ala448Val Uncertain significance Single submitter
- CCDC30 p.Arg289Gln Uncertain significance Single submitter
- CCDC30 p.Arg352Ser Uncertain significance Single submitter
- CCDC30 p.Arg405Gln Uncertain significance Single submitter
- CCDC30 p.Arg405Leu Uncertain significance Single submitter
- CCDC30 p.Arg639Leu Uncertain significance Single submitter
- CCDC30 p.Arg673His Uncertain significance Single submitter
- CCDC30 p.Arg774Gln Uncertain significance Single submitter
- CCDC30 p.Arg777Lys Uncertain significance Single submitter
- CCDC30 p.Asn161Lys Uncertain significance Single submitter
- CCDC30 p.Asn568Lys Uncertain significance Single submitter
- CCDC30 p.Asn584Ser Uncertain significance Single submitter
- CCDC30 p.Asp570Ala Uncertain significance Single submitter
- CCDC30 p.Cys272Arg Uncertain significance Single submitter
- CCDC30 p.Gln246Lys Uncertain significance Single submitter
- CCDC30 p.Gln398Lys Uncertain significance Single submitter
- CCDC30 p.Gln401Arg Uncertain significance Single submitter
- CCDC30 p.Gln536Arg Uncertain significance Single submitter
- CCDC30 p.Gln706Lys Uncertain significance Single submitter
- CCDC30 p.Gln759Lys Uncertain significance Single submitter
- CCDC30 p.Glu175Gln Uncertain significance Single submitter
- CCDC30 p.Glu216Asp Uncertain significance Single submitter
- CCDC30 p.Glu236Lys Uncertain significance Single submitter
- CCDC30 p.Glu292Val Uncertain significance Single submitter
- CCDC30 p.Glu311Gly Uncertain significance Single submitter
- CCDC30 p.Glu731Lys Uncertain significance Single submitter
- CCDC30 p.Glu773Gln Uncertain significance Single submitter
- CCDC30 p.Glu857Lys Uncertain significance Single submitter
- CCDC30 p.Glu892Gln Uncertain significance Single submitter
- CCDC30 p.Gly181Ala Uncertain significance Single submitter
- CCDC30 p.Gly257Glu Uncertain significance Single submitter
- CCDC30 p.Gly301Glu Uncertain significance Single submitter
- CCDC30 p.Gly316Ser Uncertain significance Single submitter
- CCDC30 p.Gly784Glu Uncertain significance Single submitter
- CCDC30 p.Gly874Asp Uncertain significance Single submitter
- CCDC30 p.His697Arg Uncertain significance Single submitter
- CCDC30 p.His828Leu Uncertain significance Single submitter
- CCDC30 p.Ile408Phe Uncertain significance Single submitter
- CCDC30 p.Ile441Val Uncertain significance Single submitter
- CCDC30 p.Ile776Leu Uncertain significance Single submitter
- CCDC30 p.Ile862Arg Uncertain significance Single submitter
- CCDC30 p.Leu478Met Uncertain significance Single submitter
- CCDC30 p.Leu648Met Uncertain significance Single submitter
- CCDC30 p.Leu801Val Uncertain significance Single submitter
- CCDC30 p.Leu907Pro Uncertain significance Single submitter
- CCDC30 p.Lys220Glu Uncertain significance Single submitter
- CCDC30 p.Lys496Asn Uncertain significance Single submitter
- CCDC30 p.Lys523Glu Uncertain significance Single submitter
- CCDC30 p.Lys873Arg Uncertain significance Single submitter
- CCDC30 p.Lys898Asn Uncertain significance Single submitter
- CCDC30 p.Met334Arg Uncertain significance Single submitter
- CCDC30 p.Met345Ile Uncertain significance Single submitter
- CCDC30 p.Phe879Leu Uncertain significance Single submitter
- CCDC30 p.Ser288Arg Uncertain significance Single submitter
- CCDC30 p.Ser489Thr Uncertain significance Single submitter
- CCDC30 p.Ser803Phe Uncertain significance Single submitter
- CCDC30 p.Thr260Ile Uncertain significance Single submitter
- CCDC30 p.Thr267Lys Uncertain significance Single submitter
- CCDC30 p.Thr271Asn Uncertain significance Single submitter
- CCDC30 p.Thr578Asn Uncertain significance Single submitter
- CCDC30 p.Thr675Ile Uncertain significance Single submitter
- CCDC30 p.Tyr419His Uncertain significance Single submitter
- CCDC30 p.Val920Glu Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- CCDC30 p.Ala602Pro Uncertain significance Single submitter
- CCDC30 p.Arg418Gly Uncertain significance Single submitter
- CCDC30 p.Arg516Trp Uncertain significance Single submitter
- CCDC30 p.Asp333Tyr Uncertain significance Single submitter
- CCDC30 p.Cys590Phe Uncertain significance Single submitter
- CCDC30 p.Gln600Arg Uncertain significance Single submitter
- CCDC30 p.Glu202Gly Uncertain significance Single submitter
- CCDC30 p.Glu247Ala Uncertain significance Single submitter
- CCDC30 p.Glu356Gly Uncertain significance Single submitter
- CCDC30 p.Glu543Gly Uncertain significance Single submitter
- CCDC30 p.Glu616Lys Uncertain significance Single submitter
- CCDC30 p.Glu677Lys Uncertain significance Single submitter
- CCDC30 p.Glu760Lys Uncertain significance Single submitter
- CCDC30 p.His400Pro Uncertain significance Single submitter
- CCDC30 p.Ile511Val Uncertain significance Single submitter
- CCDC30 p.Ile685Met Uncertain significance Single submitter
- CCDC30 p.Ile709Thr Uncertain significance Single submitter
- CCDC30 p.Leu242Phe Uncertain significance Single submitter
- CCDC30 p.Leu364Arg Uncertain significance Single submitter
- CCDC30 p.Leu476Val Uncertain significance Single submitter
- CCDC30 p.Lys472Asn Uncertain significance Single submitter
- CCDC30 p.Lys534Gln Uncertain significance Single submitter
- CCDC30 p.Lys611Asn Uncertain significance Single submitter
- CCDC30 p.Ser746Arg Uncertain significance Single submitter
- CCDC30 p.Ser856Phe Likely benign Single submitter
- CCDC30 p.Val210Gly Uncertain significance Single submitter
All CCDC30 variants
Likely benign 7
- p.Ala249Glu Single submitter
- p.Arg516Gln Single submitter
- p.Asn212Ser Single submitter
- p.Gly258Arg Single submitter
- p.Gly916= Single submitter
- p.Ser856Phe Single submitter ⚠
- p.Ser866Pro Single submitter
Uncertain significance 89
- p.Ala226Val Single submitter ⚠
- p.Ala448Val Single submitter ⚠
- p.Ala602Pro Single submitter ⚠
- p.Arg289Gln Single submitter ⚠
- p.Arg352Ser Single submitter ⚠
- p.Arg405Gln Single submitter ⚠
- p.Arg405Leu Single submitter ⚠
- p.Arg418Gly Single submitter ⚠
- p.Arg516Trp Single submitter ⚠
- p.Arg639Leu Single submitter ⚠
- p.Arg673His Single submitter ⚠
- p.Arg774Gln Single submitter ⚠
- p.Arg777Lys Single submitter ⚠
- p.Asn161Lys Single submitter ⚠
- p.Asn568Lys Single submitter ⚠
- p.Asn584Ser Single submitter ⚠
- p.Asp333Tyr Single submitter ⚠
- p.Asp570Ala Single submitter ⚠
- p.Cys272Arg Single submitter ⚠
- p.Cys590Phe Single submitter ⚠
- p.Gln246Lys Single submitter ⚠
- p.Gln398Lys Single submitter ⚠
- p.Gln401Arg Single submitter ⚠
- p.Gln536Arg Single submitter ⚠
- p.Gln600Arg Single submitter ⚠
- p.Gln706Lys Single submitter ⚠
- p.Gln759Lys Single submitter ⚠
- p.Glu175Gln Single submitter ⚠
- p.Glu202Gly Single submitter ⚠
- p.Glu216Asp Single submitter ⚠
- p.Glu236Lys Single submitter ⚠
- p.Glu247Ala Single submitter ⚠
- p.Glu292Val Single submitter ⚠
- p.Glu311Gly Single submitter ⚠
- p.Glu356Gly Single submitter ⚠
- p.Glu543Gly Single submitter ⚠
- p.Glu616Lys Single submitter ⚠
- p.Glu677Lys Single submitter ⚠
- p.Glu731Lys Single submitter ⚠
- p.Glu760Lys Single submitter ⚠
- p.Glu773Gln Single submitter ⚠
- p.Glu857Lys Single submitter ⚠
- p.Glu892Gln Single submitter ⚠
- p.Gly181Ala Single submitter ⚠
- p.Gly257Glu Single submitter ⚠
- p.Gly301Glu Single submitter ⚠
- p.Gly316Ser Single submitter ⚠
- p.Gly784Glu Single submitter ⚠
- p.Gly874Asp Single submitter ⚠
- p.His400Pro Single submitter ⚠
- p.His697Arg Single submitter ⚠
- p.His828Leu Single submitter ⚠
- p.Ile408Phe Single submitter ⚠
- p.Ile441Val Single submitter ⚠
- p.Ile511Val Single submitter ⚠
- p.Ile685Met Single submitter ⚠
- p.Ile709Thr Single submitter ⚠
- p.Ile776Leu Single submitter ⚠
- p.Ile862Arg Single submitter ⚠
- p.Leu242Phe Single submitter ⚠
- p.Leu364Arg Single submitter ⚠
- p.Leu476Val Single submitter ⚠
- p.Leu478Met Single submitter ⚠
- p.Leu648Met Single submitter ⚠
- p.Leu801Val Single submitter ⚠
- p.Leu907Pro Single submitter ⚠
- p.Lys220Glu Single submitter ⚠
- p.Lys472Asn Single submitter ⚠
- p.Lys496Asn Single submitter ⚠
- p.Lys523Glu Single submitter ⚠
- p.Lys534Gln Single submitter ⚠
- p.Lys611Asn Single submitter ⚠
- p.Lys873Arg Single submitter ⚠
- p.Lys898Asn Single submitter ⚠
- p.Met334Arg Single submitter ⚠
- p.Met345Ile Single submitter ⚠
- p.Phe879Leu Single submitter ⚠
- p.Ser288Arg Single submitter ⚠
- p.Ser489Thr Single submitter ⚠
- p.Ser746Arg Single submitter ⚠
- p.Ser803Phe Single submitter ⚠
- p.Thr260Ile Single submitter ⚠
- p.Thr267Lys Single submitter ⚠
- p.Thr271Asn Single submitter ⚠
- p.Thr578Asn Single submitter ⚠
- p.Thr675Ile Single submitter ⚠
- p.Tyr419His Single submitter ⚠
- p.Val210Gly Single submitter ⚠
- p.Val920Glu Single submitter ⚠