CCDC102A — 109 ClinVar variants
All ClinVar germline CCDC102A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →
2 Likely benign · 107 Uncertain significance
Full CCDC102A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 103
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 86
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC102A p.Ala131Ser Uncertain significance Single submitter
- CCDC102A p.Ala163Val Uncertain significance Single submitter
- CCDC102A p.Ala314Glu Uncertain significance Single submitter
- CCDC102A p.Ala332Thr Uncertain significance Single submitter
- CCDC102A p.Ala355Thr Uncertain significance Single submitter
- CCDC102A p.Ala356Val Uncertain significance Single submitter
- CCDC102A p.Ala380Val Uncertain significance Single submitter
- CCDC102A p.Ala388Val Uncertain significance Single submitter
- CCDC102A p.Ala397Thr Uncertain significance Single submitter
- CCDC102A p.Ala399Thr Uncertain significance Single submitter
- CCDC102A p.Ala410Glu Uncertain significance Single submitter
- CCDC102A p.Ala410Thr Uncertain significance Single submitter
- CCDC102A p.Ala410Val Uncertain significance Single submitter
- CCDC102A p.Ala440Thr Uncertain significance Single submitter
- CCDC102A p.Ala516Ser Uncertain significance Single submitter
- CCDC102A p.Ala62Thr Uncertain significance Single submitter
- CCDC102A p.Ala62Val Uncertain significance Single submitter
- CCDC102A p.Ala65Val Uncertain significance Single submitter
- CCDC102A p.Arg164Trp Uncertain significance Single submitter
- CCDC102A p.Arg171His Uncertain significance Single submitter
- CCDC102A p.Arg218Cys Uncertain significance Single submitter
- CCDC102A p.Arg226Gln Uncertain significance Single submitter
- CCDC102A p.Arg234Pro Uncertain significance Single submitter
- CCDC102A p.Arg236Gln Uncertain significance Single submitter
- CCDC102A p.Arg258Gln Uncertain significance Single submitter
- CCDC102A p.Arg270Gln Uncertain significance Single submitter
- CCDC102A p.Arg360His Uncertain significance Single submitter
- CCDC102A p.Arg361Trp Uncertain significance Single submitter
- CCDC102A p.Arg363Gln Uncertain significance Single submitter
- CCDC102A p.Arg391Gln Uncertain significance Single submitter
- CCDC102A p.Arg392Gln Uncertain significance Single submitter
- CCDC102A p.Arg394Gln Uncertain significance Single submitter
- CCDC102A p.Arg405Lys Uncertain significance Single submitter
- CCDC102A p.Arg457Trp Uncertain significance Single submitter
- CCDC102A p.Arg482Cys Uncertain significance Single submitter
- CCDC102A p.Arg486Trp Uncertain significance Single submitter
- CCDC102A p.Asn515Ser Uncertain significance Single submitter
- CCDC102A p.Asp168Asn Uncertain significance Single submitter
- CCDC102A p.Asp172His Uncertain significance Single submitter
- CCDC102A p.Asp260Glu Uncertain significance Single submitter
- CCDC102A p.Asp36Asn Uncertain significance Single submitter
- CCDC102A p.Asp475Asn Uncertain significance Single submitter
- CCDC102A p.Gln433Leu Uncertain significance Single submitter
- CCDC102A p.Glu175Lys Uncertain significance Single submitter
- CCDC102A p.Glu181Lys Uncertain significance Single submitter
- CCDC102A p.Glu201Asp Uncertain significance Single submitter
- CCDC102A p.Glu210Asp Uncertain significance Single submitter
- CCDC102A p.Glu246Gly Uncertain significance Single submitter
- CCDC102A p.Glu313Gly Uncertain significance Single submitter
- CCDC102A p.Glu353Lys Uncertain significance Single submitter
- CCDC102A p.Glu417Ala Uncertain significance Single submitter
- CCDC102A p.Glu473Lys Uncertain significance Single submitter
- CCDC102A p.Glu490Gln Uncertain significance Single submitter
- CCDC102A p.Glu530Lys Uncertain significance Single submitter
- CCDC102A p.Glu533Lys Uncertain significance Single submitter
- CCDC102A p.Gly187Arg Uncertain significance Single submitter
- CCDC102A p.Gly223Arg Uncertain significance Single submitter
- CCDC102A p.Gly224Asp Uncertain significance Single submitter
- CCDC102A p.Gly370Ser Uncertain significance Single submitter
- CCDC102A p.Gly383Arg Uncertain significance Single submitter
- CCDC102A p.Gly45Val Uncertain significance Single submitter
- CCDC102A p.His3Gln Uncertain significance Single submitter
- CCDC102A p.His504Pro Uncertain significance Single submitter
- CCDC102A p.Leu203Pro Uncertain significance Single submitter
- CCDC102A p.Leu20Val Uncertain significance Single submitter
- CCDC102A p.Leu509Val Uncertain significance Single submitter
- CCDC102A p.Leu55Pro Uncertain significance Single submitter
- CCDC102A p.Met207Lys Uncertain significance Single submitter
- CCDC102A p.Phe527Ser Uncertain significance Single submitter
- CCDC102A p.Pro13Leu Uncertain significance Single submitter
- CCDC102A p.Pro225Leu Uncertain significance Single submitter
- CCDC102A p.Pro29Thr Uncertain significance Single submitter
- CCDC102A p.Pro42Arg Uncertain significance Single submitter
- CCDC102A p.Pro517Ala Uncertain significance Single submitter
- CCDC102A p.Pro53Ser Uncertain significance Single submitter
- CCDC102A p.Pro58Leu Uncertain significance Single submitter
- CCDC102A p.Pro58Ser Uncertain significance Single submitter
- CCDC102A p.Pro5Ala Uncertain significance Single submitter
- CCDC102A p.Ser44Arg Uncertain significance Single submitter
- CCDC102A p.Ser487Leu Uncertain significance Single submitter
- CCDC102A p.Ser71Asn Uncertain significance Single submitter
- CCDC102A p.Thr245Met Uncertain significance Single submitter
- CCDC102A p.Thr253Ile Uncertain significance Single submitter
- CCDC102A p.Val166Gly Uncertain significance Single submitter
- CCDC102A p.Val186Ala Uncertain significance Single submitter
- CCDC102A p.Val549Met Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CCDC102A p.Ala163Pro Uncertain significance Single submitter
- CCDC102A p.Arg112His Uncertain significance Single submitter
- CCDC102A p.Arg153Pro Uncertain significance Single submitter
- CCDC102A p.Arg256Trp Uncertain significance Single submitter
- CCDC102A p.Arg392Trp Uncertain significance Single submitter
- CCDC102A p.Arg523Cys Uncertain significance Single submitter
- CCDC102A p.Arg72His Uncertain significance Single submitter
- CCDC102A p.Asp68Gly Uncertain significance Single submitter
- CCDC102A p.Glu106Lys Uncertain significance Single submitter
- CCDC102A p.Glu135Gly Uncertain significance Single submitter
- CCDC102A p.Ile280Asn Uncertain significance Single submitter
- CCDC102A p.Ile292Thr Uncertain significance Single submitter
- CCDC102A p.Leu157Pro Uncertain significance Single submitter
- CCDC102A p.Leu287Phe Uncertain significance Single submitter
- CCDC102A p.Lys92Asn Uncertain significance Single submitter
- CCDC102A p.Phe412Leu Uncertain significance Single submitter
- CCDC102A p.Ser109Asn Uncertain significance Single submitter
All CCDC102A variants
Likely benign 2
- p.Arg171Pro Single submitter
- p.Val166Ala Single submitter
Uncertain significance 107
- p.Ala131Ser Single submitter ⚠
- p.Ala163Pro Single submitter ⚠
- p.Ala163Val Single submitter ⚠
- p.Ala314Glu Single submitter ⚠
- p.Ala332Thr Single submitter ⚠
- p.Ala355Thr Single submitter ⚠
- p.Ala356Val Single submitter ⚠
- p.Ala380Val Single submitter ⚠
- p.Ala388Val Single submitter ⚠
- p.Ala397Thr Single submitter ⚠
- p.Ala399Thr Single submitter ⚠
- p.Ala410Glu Single submitter ⚠
- p.Ala410Thr Single submitter ⚠
- p.Ala410Val Single submitter ⚠
- p.Ala440Thr Single submitter ⚠
- p.Ala516Ser Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Arg112His Single submitter ⚠
- p.Arg153Pro Single submitter ⚠
- p.Arg164Trp Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Arg218Cys Single submitter ⚠
- p.Arg226Gln Single submitter ⚠
- p.Arg234Pro Single submitter ⚠
- p.Arg236Gln Single submitter ⚠
- p.Arg256Trp Single submitter ⚠
- p.Arg258Gln Single submitter ⚠
- p.Arg258Trp Single submitter
- p.Arg270Gln Single submitter ⚠
- p.Arg333His Single submitter
- p.Arg360His Single submitter ⚠
- p.Arg361Trp Single submitter ⚠
- p.Arg363Gln Single submitter ⚠
- p.Arg373Gln Single submitter
- p.Arg391Gln Single submitter ⚠
- p.Arg392Gln Single submitter ⚠
- p.Arg392Trp Single submitter ⚠
- p.Arg394Gln Single submitter ⚠
- p.Arg405Lys Single submitter ⚠
- p.Arg457Trp Single submitter ⚠
- p.Arg482Cys Single submitter ⚠
- p.Arg486Trp Single submitter ⚠
- p.Arg523Cys Single submitter ⚠
- p.Arg72His Single submitter ⚠
- p.Asn515Ser Single submitter ⚠
- p.Asp168Asn Single submitter ⚠
- p.Asp172His Single submitter ⚠
- p.Asp260Glu Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Asp475Asn Single submitter ⚠
- p.Asp68Gly Single submitter ⚠
- p.Gln433Leu Single submitter ⚠
- p.Glu106Lys Single submitter ⚠
- p.Glu135Gly Single submitter ⚠
- p.Glu175Lys Single submitter ⚠
- p.Glu181Lys Single submitter ⚠
- p.Glu201Asp Single submitter ⚠
- p.Glu210Asp Single submitter ⚠
- p.Glu246Gly Single submitter ⚠
- p.Glu313Gly Single submitter ⚠
- p.Glu353Lys Single submitter ⚠
- p.Glu417Ala Single submitter ⚠
- p.Glu473Lys Single submitter ⚠
- p.Glu490Gln Single submitter ⚠
- p.Glu530Lys Single submitter ⚠
- p.Glu533Lys Single submitter ⚠
- p.Gly187Arg Single submitter ⚠
- p.Gly223Arg Single submitter ⚠
- p.Gly224Asp Single submitter ⚠
- p.Gly370Ser Single submitter ⚠
- p.Gly383Arg Single submitter ⚠
- p.Gly45Val Single submitter ⚠
- p.His3Gln Single submitter ⚠
- p.His504Pro Single submitter ⚠
- p.Ile280Asn Single submitter ⚠
- p.Ile292Thr Single submitter ⚠
- p.Leu157Pro Single submitter ⚠
- p.Leu203Pro Single submitter ⚠
- p.Leu20Val Single submitter ⚠
- p.Leu287Phe Single submitter ⚠
- p.Leu411Phe Single submitter
- p.Leu509Val Single submitter ⚠
- p.Leu55Pro Single submitter ⚠
- p.Lys92Asn Single submitter ⚠
- p.Met207Lys Single submitter ⚠
- p.Phe412Leu Single submitter ⚠
- p.Phe527Ser Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro225Leu Single submitter ⚠
- p.Pro29Thr Single submitter ⚠
- p.Pro42Arg Single submitter ⚠
- p.Pro517Ala Single submitter ⚠
- p.Pro53Ser Single submitter ⚠
- p.Pro58Leu Single submitter ⚠
- p.Pro58Ser Single submitter ⚠
- p.Pro5Ala Single submitter ⚠
- p.Ser109Asn Single submitter ⚠
- p.Ser44Arg Single submitter ⚠
- p.Ser487Leu Single submitter ⚠
- p.Ser71Asn Single submitter ⚠
- p.Thr245Met Single submitter ⚠
- p.Thr253Ile Single submitter ⚠
- p.Val166Gly Single submitter ⚠
- p.Val186Ala Single submitter ⚠
- p.Val549Met Single submitter ⚠