CCDC183 — 111 ClinVar variants
All ClinVar germline CCDC183 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
2 Likely pathogenic · 10 Likely benign · 99 Uncertain significance
Full CCDC183 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC183 p.Ala238Thr Uncertain significance Single submitter
- CCDC183 p.Ala348Thr Uncertain significance Single submitter
- CCDC183 p.Ala392Val Uncertain significance Single submitter
- CCDC183 p.Ala424Glu Uncertain significance Single submitter
- CCDC183 p.Ala518Thr Uncertain significance Single submitter
- CCDC183 p.Arg143Leu Uncertain significance Single submitter
- CCDC183 p.Arg223Ser Uncertain significance Single submitter
- CCDC183 p.Arg237Gln Uncertain significance Single submitter
- CCDC183 p.Arg264Gln Uncertain significance Single submitter
- CCDC183 p.Arg343Gln Uncertain significance Single submitter
- CCDC183 p.Arg363Leu Uncertain significance Single submitter
- CCDC183 p.Asn274Lys Uncertain significance Single submitter
- CCDC183 p.Asn421Asp Uncertain significance Single submitter
- CCDC183 p.Asn51Thr Uncertain significance Single submitter
- CCDC183 p.Asp136Gly Uncertain significance Single submitter
- CCDC183 p.Asp213Asn Uncertain significance Single submitter
- CCDC183 p.Asp251Asn Uncertain significance Single submitter
- CCDC183 p.Asp268Glu Uncertain significance Single submitter
- CCDC183 p.Asp411Asn Uncertain significance Single submitter
- CCDC183 p.Gln57Arg Uncertain significance Single submitter
- CCDC183 p.Glu127Lys Uncertain significance Single submitter
- CCDC183 p.Glu141Gln Uncertain significance Single submitter
- CCDC183 p.Glu234Lys Uncertain significance Single submitter
- CCDC183 p.Glu260Lys Uncertain significance Single submitter
- CCDC183 p.Glu488Asp Uncertain significance Single submitter
- CCDC183 p.Gly118Ala Uncertain significance Single submitter
- CCDC183 p.Gly399Ala Uncertain significance Single submitter
- CCDC183 p.Gly399Asp Uncertain significance Single submitter
- CCDC183 p.Gly419Asp Uncertain significance Single submitter
- CCDC183 p.Gly524Arg Uncertain significance Single submitter
- CCDC183 p.Gly55Arg Uncertain significance Single submitter
- CCDC183 p.Ile168Val Uncertain significance Single submitter
- CCDC183 p.Leu126Val Uncertain significance Single submitter
- CCDC183 p.Leu190Pro Uncertain significance Single submitter
- CCDC183 p.Leu275Val Uncertain significance Single submitter
- CCDC183 p.Lys248Gln Uncertain significance Single submitter
- CCDC183 p.Met381Thr Uncertain significance Single submitter
- CCDC183 p.Met38Ile Uncertain significance Single submitter
- CCDC183 p.Met457Leu Uncertain significance Single submitter
- CCDC183 p.Met478Ile Uncertain significance Single submitter
- CCDC183 p.Pro501Ser Uncertain significance Single submitter
- CCDC183 p.Ser123Asn Uncertain significance Single submitter
- CCDC183 p.Ser205Leu Uncertain significance Single submitter
- CCDC183 p.Ser273Leu Uncertain significance Single submitter
- CCDC183 p.Ser297Leu Uncertain significance Single submitter
- CCDC183 p.Ser308Asn Uncertain significance Single submitter
- CCDC183 p.Thr218Ala Uncertain significance Single submitter
- CCDC183 p.Thr255Arg Uncertain significance Single submitter
- CCDC183 p.Thr255Met Uncertain significance Single submitter
- CCDC183 p.Thr44Met Uncertain significance Single submitter
- CCDC183 p.Thr483Ile Uncertain significance Single submitter
- CCDC183 p.Tyr507His Uncertain significance Single submitter
- CCDC183 p.Val197Met Uncertain significance Single submitter
- CCDC183 p.Val221Ala Uncertain significance Single submitter
- CCDC183 p.Val299Met Uncertain significance Single submitter
- CCDC183 p.Val350Leu Uncertain significance Single submitter
- CCDC183 p.Val359Met Uncertain significance Single submitter
- CCDC183 p.Val455Leu Uncertain significance Single submitter
- CCDC183 p.Val455Met Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- CCDC183 p.Arg117Pro Uncertain significance Single submitter
- CCDC183 p.Arg132Gly Uncertain significance Single submitter
- CCDC183 p.Arg143Trp Uncertain significance Single submitter
- CCDC183 p.Arg236His Uncertain significance Single submitter
- CCDC183 p.Arg237Gly Uncertain significance Single submitter
- CCDC183 p.Arg242Trp Uncertain significance Single submitter
- CCDC183 p.Arg27Pro Uncertain significance Single submitter
- CCDC183 p.Arg343Trp Uncertain significance Single submitter
- CCDC183 p.Arg416Gln Uncertain significance Single submitter
- CCDC183 p.Arg469Trp Uncertain significance Single submitter
- CCDC183 p.Arg490Trp Uncertain significance Single submitter
- CCDC183 p.Arg520Gly Uncertain significance Single submitter
- CCDC183 p.Asp129His Uncertain significance Single submitter
- CCDC183 p.Asp436Tyr Uncertain significance Single submitter
- CCDC183 p.Asp502Asn Uncertain significance Single submitter
- CCDC183 p.Asp504Ala Uncertain significance Single submitter
- CCDC183 p.Asp504Asn Uncertain significance Single submitter
- CCDC183 p.Glu141Ala Uncertain significance Single submitter
- CCDC183 p.Glu152Ala Uncertain significance Single submitter
- CCDC183 p.Glu229Lys Uncertain significance Single submitter
- CCDC183 p.Glu304Gln Uncertain significance Single submitter
- CCDC183 p.Glu304Lys Uncertain significance Single submitter
- CCDC183 p.Gly118Trp Uncertain significance Single submitter
- CCDC183 p.Gly446Trp Uncertain significance Single submitter
- CCDC183 p.Ile253Thr Uncertain significance Single submitter
- CCDC183 p.Leu128Pro Uncertain significance Single submitter
- CCDC183 p.Leu144Pro Uncertain significance Single submitter
- CCDC183 p.Leu173Phe Uncertain significance Single submitter
- CCDC183 p.Leu196Pro Uncertain significance Single submitter
- CCDC183 p.Leu332Pro Uncertain significance Single submitter
- CCDC183 p.Leu413Phe Uncertain significance Single submitter
- CCDC183 p.Lys530Asn Uncertain significance Single submitter
- CCDC183 p.Lys530Gln Uncertain significance Single submitter
- CCDC183 p.Ser133Gly Uncertain significance Single submitter
- CCDC183 p.Ser202Pro Uncertain significance Single submitter
- CCDC183 p.Ser367Cys Uncertain significance Single submitter
- CCDC183 p.Ser394Gly Uncertain significance Single submitter
- CCDC183 p.Ser432Phe Uncertain significance Single submitter
- CCDC183 p.Thr328Met Uncertain significance Single submitter
- CCDC183 p.Val306Ala Uncertain significance Single submitter
All CCDC183 variants
Likely pathogenic 2
- p.Gln296Ter Single submitter
- p.Trp342Ter No assertion criteria essential tremor
Likely benign 10
- p.Arg311Gln Single submitter
- p.Arg363His Single submitter
- p.Arg54= Single submitter
- p.Arg93Gln Single submitter
- p.Glu127= Single submitter
- p.His393Gln Single submitter
- p.Met503Val Single submitter
- p.Val91fs Single submitter
- p.Val91Glu Single submitter
- p.Val92Leu Single submitter
Uncertain significance 99
- p.Ala238Thr Single submitter ⚠
- p.Ala348Thr Single submitter ⚠
- p.Ala392Val Single submitter ⚠
- p.Ala424Glu Single submitter ⚠
- p.Ala518Thr Single submitter ⚠
- p.Arg117Pro Single submitter ⚠
- p.Arg132Gly Single submitter ⚠
- p.Arg143Leu Single submitter ⚠
- p.Arg143Trp Single submitter ⚠
- p.Arg223Ser Single submitter ⚠
- p.Arg236His Single submitter ⚠
- p.Arg237Gln Single submitter ⚠
- p.Arg237Gly Single submitter ⚠
- p.Arg242Trp Single submitter ⚠
- p.Arg264Gln Single submitter ⚠
- p.Arg27Pro Single submitter ⚠
- p.Arg343Gln Single submitter ⚠
- p.Arg343Trp Single submitter ⚠
- p.Arg363Leu Single submitter ⚠
- p.Arg416Gln Single submitter ⚠
- p.Arg469Trp Single submitter ⚠
- p.Arg490Trp Single submitter ⚠
- p.Arg520Gly Single submitter ⚠
- p.Asn274Lys Single submitter ⚠
- p.Asn421Asp Single submitter ⚠
- p.Asn51Thr Single submitter ⚠
- p.Asp129His Single submitter ⚠
- p.Asp136Gly Single submitter ⚠
- p.Asp213Asn Single submitter ⚠
- p.Asp251Asn Single submitter ⚠
- p.Asp268Glu Single submitter ⚠
- p.Asp411Asn Single submitter ⚠
- p.Asp436Tyr Single submitter ⚠
- p.Asp502Asn Single submitter ⚠
- p.Asp504Ala Single submitter ⚠
- p.Asp504Asn Single submitter ⚠
- p.Gln57Arg Single submitter ⚠
- p.Glu127Lys Single submitter ⚠
- p.Glu141Ala Single submitter ⚠
- p.Glu141Gln Single submitter ⚠
- p.Glu152Ala Single submitter ⚠
- p.Glu229Lys Single submitter ⚠
- p.Glu234Lys Single submitter ⚠
- p.Glu260Lys Single submitter ⚠
- p.Glu304Gln Single submitter ⚠
- p.Glu304Lys Single submitter ⚠
- p.Glu488Asp Single submitter ⚠
- p.Gly118Ala Single submitter ⚠
- p.Gly118Trp Single submitter ⚠
- p.Gly399Ala Single submitter ⚠
- p.Gly399Asp Single submitter ⚠
- p.Gly419Asp Single submitter ⚠
- p.Gly446Trp Single submitter ⚠
- p.Gly524Arg Single submitter ⚠
- p.Gly55Arg Single submitter ⚠
- p.Ile168Val Single submitter ⚠
- p.Ile253Thr Single submitter ⚠
- p.Leu126Val Single submitter ⚠
- p.Leu128Pro Single submitter ⚠
- p.Leu144Pro Single submitter ⚠
- p.Leu173Phe Single submitter ⚠
- p.Leu190Pro Single submitter ⚠
- p.Leu196Pro Single submitter ⚠
- p.Leu275Val Single submitter ⚠
- p.Leu332Pro Single submitter ⚠
- p.Leu413Phe Single submitter ⚠
- p.Lys248Gln Single submitter ⚠
- p.Lys530Asn Single submitter ⚠
- p.Lys530Gln Single submitter ⚠
- p.Met381Thr Single submitter ⚠
- p.Met38Ile Single submitter ⚠
- p.Met457Leu Single submitter ⚠
- p.Met478Ile Single submitter ⚠
- p.Pro501Ser Single submitter ⚠
- p.Ser123Asn Single submitter ⚠
- p.Ser133Gly Single submitter ⚠
- p.Ser202Pro Single submitter ⚠
- p.Ser205Leu Single submitter ⚠
- p.Ser273Leu Single submitter ⚠
- p.Ser297Leu Single submitter ⚠
- p.Ser308Asn Single submitter ⚠
- p.Ser367Cys Single submitter ⚠
- p.Ser394Gly Single submitter ⚠
- p.Ser432Phe Single submitter ⚠
- p.Thr218Ala Single submitter ⚠
- p.Thr255Arg Single submitter ⚠
- p.Thr255Met Single submitter ⚠
- p.Thr328Met Single submitter ⚠
- p.Thr44Met Single submitter ⚠
- p.Thr483Ile Single submitter ⚠
- p.Tyr507His Single submitter ⚠
- p.Val197Met Single submitter ⚠
- p.Val221Ala Single submitter ⚠
- p.Val299Met Single submitter ⚠
- p.Val306Ala Single submitter ⚠
- p.Val350Leu Single submitter ⚠
- p.Val359Met Single submitter ⚠
- p.Val455Leu Single submitter ⚠
- p.Val455Met Single submitter ⚠