CCDC83 — 66 ClinVar variants
All ClinVar germline CCDC83 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
5 Likely benign · 61 Uncertain significance
Full CCDC83 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC83 p.Ala149Val Uncertain significance Single submitter
- CCDC83 p.Ala166Thr Uncertain significance Single submitter
- CCDC83 p.Ala98Val Uncertain significance Single submitter
- CCDC83 p.Asn112Tyr Uncertain significance Single submitter
- CCDC83 p.Asn157Ser Uncertain significance Single submitter
- CCDC83 p.Asp108Glu Uncertain significance Single submitter
- CCDC83 p.Asp251Asn Uncertain significance Single submitter
- CCDC83 p.Asp334Glu Uncertain significance Single submitter
- CCDC83 p.Asp334His Uncertain significance Single submitter
- CCDC83 p.Asp396Glu Uncertain significance Single submitter
- CCDC83 p.Gln109His Uncertain significance Single submitter
- CCDC83 p.Gln109Lys Uncertain significance Single submitter
- CCDC83 p.Gln329Pro Uncertain significance Single submitter
- CCDC83 p.Gln42Lys Uncertain significance Single submitter
- CCDC83 p.Gln55Arg Uncertain significance Single submitter
- CCDC83 p.Glu326Lys Uncertain significance Single submitter
- CCDC83 p.Glu41Asp Uncertain significance Single submitter
- CCDC83 p.Gly15Arg Uncertain significance Single submitter
- CCDC83 p.His13Tyr Uncertain significance Single submitter
- CCDC83 p.His318Pro Uncertain significance Single submitter
- CCDC83 p.Ile120Val Uncertain significance Single submitter
- CCDC83 p.Leu307Phe Uncertain significance Single submitter
- CCDC83 p.Leu75Pro Uncertain significance Single submitter
- CCDC83 p.Lys174Glu Uncertain significance Single submitter
- CCDC83 p.Lys236Arg Uncertain significance Single submitter
- CCDC83 p.Lys335Ile Uncertain significance Single submitter
- CCDC83 p.Lys392Asn Uncertain significance Single submitter
- CCDC83 p.Lys407Asn Uncertain significance Single submitter
- CCDC83 p.Lys83Asn Uncertain significance Single submitter
- CCDC83 p.Met118Ile Uncertain significance Single submitter
- CCDC83 p.Met118Thr Uncertain significance Single submitter
- CCDC83 p.Met282Thr Uncertain significance Single submitter
- CCDC83 p.Met308Thr Uncertain significance Single submitter
- CCDC83 p.Met373Val Uncertain significance Single submitter
- CCDC83 p.Pro16Leu Uncertain significance Single submitter
- CCDC83 p.Pro279Leu Uncertain significance Single submitter
- CCDC83 p.Pro381Ala Uncertain significance Single submitter
- CCDC83 p.Pro88Leu Uncertain significance Single submitter
- CCDC83 p.Ser25Thr Uncertain significance Single submitter
- CCDC83 p.Ser411Tyr Uncertain significance Single submitter
- CCDC83 p.Ser80Arg Uncertain significance Single submitter
- CCDC83 p.Thr180Asn Uncertain significance Single submitter
- CCDC83 p.Thr270Ile Uncertain significance Single submitter
- CCDC83 p.Trp70Arg Uncertain significance Single submitter
- CCDC83 p.Tyr268Phe Uncertain significance Single submitter
- CCDC83 p.Tyr350Asn Uncertain significance Single submitter
- CCDC83 p.Tyr362His Uncertain significance Single submitter
- CCDC83 p.Val40Leu Uncertain significance Single submitter
- CCDC83 p.Val89Phe Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CCDC83 p.Ala39Gly Uncertain significance Single submitter
- CCDC83 p.Arg63His Uncertain significance Single submitter
- CCDC83 p.Ile239Thr Uncertain significance Single submitter
- CCDC83 p.Leu128Phe Uncertain significance Single submitter
- CCDC83 p.Leu247Trp Uncertain significance Single submitter
- CCDC83 p.Leu249Phe Uncertain significance Single submitter
- CCDC83 p.Ser145Asn Uncertain significance Single submitter
- CCDC83 p.Tyr406Cys Uncertain significance Single submitter
All CCDC83 variants
Likely benign 5
- c.794+1285G>A Single submitter
- p.Asp193= Single submitter
- p.Gly340Ser Single submitter
- p.Ile333Thr Single submitter
- p.Ser311Leu Single submitter
Uncertain significance 61
- c.794+1269C>G Single submitter
- c.794+1294T>C Single submitter
- c.794+1326G>A Single submitter
- c.794+1332C>T Single submitter
- p.Ala149Val Single submitter ⚠
- p.Ala166Thr Single submitter ⚠
- p.Ala39Gly Single submitter ⚠
- p.Ala98Val Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Asn112Tyr Single submitter ⚠
- p.Asn157Ser Single submitter ⚠
- p.Asp108Glu Single submitter ⚠
- p.Asp251Asn Single submitter ⚠
- p.Asp334Glu Single submitter ⚠
- p.Asp334His Single submitter ⚠
- p.Asp396Glu Single submitter ⚠
- p.Gln109His Single submitter ⚠
- p.Gln109Lys Single submitter ⚠
- p.Gln329Pro Single submitter ⚠
- p.Gln42Lys Single submitter ⚠
- p.Gln55Arg Single submitter ⚠
- p.Glu326Lys Single submitter ⚠
- p.Glu41Asp Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.His13Tyr Single submitter ⚠
- p.His318Pro Single submitter ⚠
- p.Ile120Val Single submitter ⚠
- p.Ile239Thr Single submitter ⚠
- p.Leu128Phe Single submitter ⚠
- p.Leu247Trp Single submitter ⚠
- p.Leu249Phe Single submitter ⚠
- p.Leu307Phe Single submitter ⚠
- p.Leu75Pro Single submitter ⚠
- p.Lys174Glu Single submitter ⚠
- p.Lys236Arg Single submitter ⚠
- p.Lys335Ile Single submitter ⚠
- p.Lys392Asn Single submitter ⚠
- p.Lys407Asn Single submitter ⚠
- p.Lys83Asn Single submitter ⚠
- p.Met118Ile Single submitter ⚠
- p.Met118Thr Single submitter ⚠
- p.Met282Thr Single submitter ⚠
- p.Met308Thr Single submitter ⚠
- p.Met373Val Single submitter ⚠
- p.Pro16Leu Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Pro381Ala Single submitter ⚠
- p.Pro88Leu Single submitter ⚠
- p.Ser145Asn Single submitter ⚠
- p.Ser25Thr Single submitter ⚠
- p.Ser411Tyr Single submitter ⚠
- p.Ser80Arg Single submitter ⚠
- p.Thr180Asn Single submitter ⚠
- p.Thr270Ile Single submitter ⚠
- p.Trp70Arg Single submitter ⚠
- p.Tyr268Phe Single submitter ⚠
- p.Tyr350Asn Single submitter ⚠
- p.Tyr362His Single submitter ⚠
- p.Tyr406Cys Single submitter ⚠
- p.Val40Leu Single submitter ⚠
- p.Val89Phe Single submitter ⚠