ADCK2 — 105 ClinVar variants
All ClinVar germline ADCK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
13 Likely benign · 92 Uncertain significance
Full ADCK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ADCK2 p.Ala217Pro Uncertain significance Single submitter
- ADCK2 p.Ala293Gly Uncertain significance Single submitter
- ADCK2 p.Ala293Val Uncertain significance Single submitter
- ADCK2 p.Ala319Thr Uncertain significance Single submitter
- ADCK2 p.Ala465Val Uncertain significance Single submitter
- ADCK2 p.Ala78Ser Uncertain significance Single submitter
- ADCK2 p.Arg378Trp Uncertain significance Single submitter
- ADCK2 p.Arg426Gln Uncertain significance Single submitter
- ADCK2 p.Arg488Gln Uncertain significance Single submitter
- ADCK2 p.Arg6Leu Uncertain significance Single submitter
- ADCK2 p.Arg86Gly Uncertain significance Single submitter
- ADCK2 p.Asp282Glu Uncertain significance Single submitter
- ADCK2 p.Asp362His Uncertain significance Single submitter
- ADCK2 p.Gln463His Uncertain significance Single submitter
- ADCK2 p.Gln466Arg Uncertain significance Single submitter
- ADCK2 p.Gln552Glu Uncertain significance Single submitter
- ADCK2 p.Glu139Val Uncertain significance Single submitter
- ADCK2 p.Glu225Asp Uncertain significance Single submitter
- ADCK2 p.Glu301Lys Uncertain significance Single submitter
- ADCK2 p.Glu348Lys Uncertain significance Single submitter
- ADCK2 p.Glu354Gln Uncertain significance Single submitter
- ADCK2 p.Glu366Lys Uncertain significance Single submitter
- ADCK2 p.Glu464Lys Uncertain significance Single submitter
- ADCK2 p.Glu535Lys Uncertain significance Single submitter
- ADCK2 p.Gly104Ser Uncertain significance Single submitter
- ADCK2 p.Gly331Ser Uncertain significance Single submitter
- ADCK2 p.Gly520Asp Uncertain significance Single submitter
- ADCK2 p.Gly55Arg Uncertain significance Single submitter
- ADCK2 p.His564Arg Uncertain significance Single submitter
- ADCK2 p.Ile361Thr Uncertain significance Single submitter
- ADCK2 p.Ile361Val Uncertain significance Single submitter
- ADCK2 p.Leu21Val Uncertain significance Single submitter
- ADCK2 p.Leu232Phe Uncertain significance Single submitter
- ADCK2 p.Leu42His Uncertain significance Single submitter
- ADCK2 p.Leu487Pro Uncertain significance Single submitter
- ADCK2 p.Leu505Pro Uncertain significance Single submitter
- ADCK2 p.Leu563Arg Uncertain significance Single submitter
- ADCK2 p.Leu576Pro Uncertain significance Single submitter
- ADCK2 p.Leu65Pro Uncertain significance Single submitter
- ADCK2 p.Leu84Arg Uncertain significance Single submitter
- ADCK2 p.Lys342Glu Uncertain significance Single submitter
- ADCK2 p.Lys423Thr Uncertain significance Single submitter
- ADCK2 p.Met323Thr Uncertain significance Single submitter
- ADCK2 p.Phe185Ser Uncertain significance Single submitter
- ADCK2 p.Pro118Ser Uncertain significance Single submitter
- ADCK2 p.Pro315Arg Uncertain significance Single submitter
- ADCK2 p.Pro388Thr Uncertain significance Single submitter
- ADCK2 p.Pro481Ala Uncertain significance Single submitter
- ADCK2 p.Pro486Leu Uncertain significance Single submitter
- ADCK2 p.Pro606Leu Uncertain significance Single submitter
- ADCK2 p.Pro85Ala Uncertain significance Single submitter
- ADCK2 p.Pro89Ala Uncertain significance Single submitter
- ADCK2 p.Ser271Leu Uncertain significance Single submitter
- ADCK2 p.Ser461Leu Uncertain significance Single submitter
- ADCK2 p.Ser570Ala Uncertain significance Single submitter
- ADCK2 p.Ser589Ala Uncertain significance Single submitter
- ADCK2 p.Ser73Gly Uncertain significance Single submitter
- ADCK2 p.Thr221Ile Uncertain significance Single submitter
- ADCK2 p.Thr303Ser Uncertain significance Single submitter
- ADCK2 p.Tyr218His Uncertain significance Single submitter
- ADCK2 p.Tyr402His Uncertain significance Single submitter
- ADCK2 p.Val174Leu Uncertain significance Single submitter
- ADCK2 p.Val295Gly Uncertain significance Single submitter
- ADCK2 p.Val418Met Uncertain significance Single submitter
- ADCK2 p.Val477Met Uncertain significance Single submitter
- ADCK2 p.Val478Ala Uncertain significance Single submitter
- ADCK2 p.Val50Ala Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- ADCK2 p.Ala510Thr Uncertain significance Single submitter
- ADCK2 p.Arg292Trp Uncertain significance Single submitter
- ADCK2 p.Arg390Cys Uncertain significance Single submitter
- ADCK2 p.Arg509Gln Uncertain significance Single submitter
- ADCK2 p.Arg522Gly Uncertain significance Single submitter
- ADCK2 p.Arg6His Uncertain significance Single submitter
- ADCK2 p.Glu396Lys Uncertain significance Single submitter
- ADCK2 p.Glu525Lys Uncertain significance Single submitter
- ADCK2 p.Glu540Asp Uncertain significance Single submitter
- ADCK2 p.Glu545Lys Uncertain significance Single submitter
- ADCK2 p.Glu584Asp Uncertain significance Single submitter
- ADCK2 p.Glu612Gly Uncertain significance Single submitter
- ADCK2 p.Gly104Cys Uncertain significance Single submitter
- ADCK2 p.Leu42Phe Likely benign Single submitter
- ADCK2 p.Leu484Ile Uncertain significance Single submitter
- ADCK2 p.Leu560Val Uncertain significance Single submitter
- ADCK2 p.Pro124Ser Uncertain significance Single submitter
- ADCK2 p.Pro178Leu Uncertain significance Single submitter
- ADCK2 p.Ser196Ile Uncertain significance Single submitter
- ADCK2 p.Ser570Cys Uncertain significance Single submitter
- ADCK2 p.Thr559Ile Uncertain significance Single submitter
- ADCK2 p.Tyr402Cys Uncertain significance Single submitter
- ADCK2 p.Val442Leu Uncertain significance Single submitter
- ADCK2 p.Val539Met Uncertain significance Single submitter
- ADCK2 p.Val591Ala Uncertain significance Single submitter
All ADCK2 variants
Likely benign 13
- c.933+1G>C Single submitter
- p.Ala470Val Single submitter
- p.Arg17= Single submitter
- p.Arg292Gln Single submitter
- p.Arg378Gln Single submitter
- p.Asn202Lys Single submitter
- p.Ile472Val Single submitter
- p.Leu42Phe Single submitter ⚠
- p.Pro417= Single submitter
- p.Ser482Pro Single submitter
- p.Thr401= Single submitter
- p.Ala137Val No assertion criteria ADCK2-related disorder
- p.Pro622= No assertion criteria ADCK2-related disorder
Uncertain significance 92
- p.Ala217Pro Single submitter ⚠
- p.Ala293Gly Single submitter ⚠
- p.Ala293Val Single submitter ⚠
- p.Ala319Thr Single submitter ⚠
- p.Ala465Val Single submitter ⚠
- p.Ala510Thr Single submitter ⚠
- p.Ala78Ser Single submitter ⚠
- p.Arg292Trp Single submitter ⚠
- p.Arg378Trp Single submitter ⚠
- p.Arg390Cys Single submitter ⚠
- p.Arg426Gln Single submitter ⚠
- p.Arg488Gln Single submitter ⚠
- p.Arg509Gln Single submitter ⚠
- p.Arg522Gly Single submitter ⚠
- p.Arg6His Single submitter ⚠
- p.Arg6Leu Single submitter ⚠
- p.Arg86Gly Single submitter ⚠
- p.Asp282Glu Single submitter ⚠
- p.Asp362His Single submitter ⚠
- p.Gln463His Single submitter ⚠
- p.Gln466Arg Single submitter ⚠
- p.Gln552Glu Single submitter ⚠
- p.Glu139Val Single submitter ⚠
- p.Glu225Asp Single submitter ⚠
- p.Glu301Lys Single submitter ⚠
- p.Glu348Lys Single submitter ⚠
- p.Glu354Gln Single submitter ⚠
- p.Glu366Lys Single submitter ⚠
- p.Glu396Lys Single submitter ⚠
- p.Glu464Lys Single submitter ⚠
- p.Glu525Lys Single submitter ⚠
- p.Glu535Lys Single submitter ⚠
- p.Glu540Asp Single submitter ⚠
- p.Glu545Lys Single submitter ⚠
- p.Glu584Asp Single submitter ⚠
- p.Glu612Gly Single submitter ⚠
- p.Gly104Cys Single submitter ⚠
- p.Gly104Ser Single submitter ⚠
- p.Gly331Ser Single submitter ⚠
- p.Gly520Asp Single submitter ⚠
- p.Gly55Arg Single submitter ⚠
- p.His564Arg Single submitter ⚠
- p.Ile361Thr Single submitter ⚠
- p.Ile361Val Single submitter ⚠
- p.Leu21Val Single submitter ⚠
- p.Leu232Phe Single submitter ⚠
- p.Leu42His Single submitter ⚠
- p.Leu484Ile Single submitter ⚠
- p.Leu487Pro Single submitter ⚠
- p.Leu505Pro Single submitter ⚠
- p.Leu560Val Single submitter ⚠
- p.Leu563Arg Single submitter ⚠
- p.Leu576Pro Single submitter ⚠
- p.Leu65Pro Single submitter ⚠
- p.Leu84Arg Single submitter ⚠
- p.Lys342Glu Single submitter ⚠
- p.Lys423Thr Single submitter ⚠
- p.Met323Thr Single submitter ⚠
- p.Phe185Ser Single submitter ⚠
- p.Pro118Ser Single submitter ⚠
- p.Pro124Ser Single submitter ⚠
- p.Pro178Leu Single submitter ⚠
- p.Pro315Arg Single submitter ⚠
- p.Pro388Thr Single submitter ⚠
- p.Pro481Ala Single submitter ⚠
- p.Pro486Leu Single submitter ⚠
- p.Pro606Leu Single submitter ⚠
- p.Pro85Ala Single submitter ⚠
- p.Pro89Ala Single submitter ⚠
- p.Ser196Ile Single submitter ⚠
- p.Ser271Leu Single submitter ⚠
- p.Ser461Leu Single submitter ⚠
- p.Ser570Ala Single submitter ⚠
- p.Ser570Cys Single submitter ⚠
- p.Ser589Ala Single submitter ⚠
- p.Ser73Gly Single submitter ⚠
- p.Thr221Ile Single submitter ⚠
- p.Thr303Ser Single submitter ⚠
- p.Thr559Ile Single submitter ⚠
- p.Tyr218His Single submitter ⚠
- p.Tyr402Cys Single submitter ⚠
- p.Tyr402His Single submitter ⚠
- p.Val174Leu Single submitter ⚠
- p.Val295Gly Single submitter ⚠
- p.Val418Met Single submitter ⚠
- p.Val442Leu Single submitter ⚠
- p.Val477Met Single submitter ⚠
- p.Val478Ala Single submitter ⚠
- p.Val50Ala Single submitter ⚠
- p.Val539Met Single submitter ⚠
- p.Val591Ala Single submitter ⚠
- p.Arg333Ter No assertion criteria