CMPK2 — 107 ClinVar variants
All ClinVar germline CMPK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 9 Likely benign · 94 Uncertain significance
Full CMPK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CMPK2 p.Ala24Gly Uncertain significance Single submitter
- CMPK2 p.Ala49Ser Uncertain significance Single submitter
- CMPK2 p.Ala4Ser Uncertain significance Single submitter
- CMPK2 p.Ala4Val Uncertain significance Single submitter
- CMPK2 p.Ala87Thr Uncertain significance Single submitter
- CMPK2 p.Ala91Ser Uncertain significance Single submitter
- CMPK2 p.Arg220Leu Uncertain significance Single submitter
- CMPK2 p.Arg382Lys Uncertain significance Single submitter
- CMPK2 p.Arg5Cys Uncertain significance Single submitter
-
CMPK2 p.Arg9Ser
Uncertain significance
Single submitter
CMPK2-related disorder
- CMPK2 p.Asp138Ala Uncertain significance Single submitter
- CMPK2 p.Asp215Glu Uncertain significance Single submitter
- CMPK2 p.Asp215Gly Uncertain significance Single submitter
- CMPK2 p.Cys110Arg Uncertain significance Single submitter
- CMPK2 p.Cys117Ser Uncertain significance Single submitter
- CMPK2 p.Cys119Tyr Uncertain significance Single submitter
- CMPK2 p.Gln174Leu Uncertain significance Single submitter
- CMPK2 p.Gln415His Uncertain significance Single submitter
- CMPK2 p.Glu148Gln Uncertain significance Single submitter
- CMPK2 p.Glu165Gln Uncertain significance Single submitter
- CMPK2 p.Glu258Lys Uncertain significance Single submitter
- CMPK2 p.Glu70Lys Uncertain significance Single submitter
- CMPK2 p.Gly122Arg Uncertain significance Single submitter
- CMPK2 p.Gly151Ala Uncertain significance Single submitter
- CMPK2 p.Gly151Asp Uncertain significance Single submitter
- CMPK2 p.Gly162Ser Uncertain significance Single submitter
- CMPK2 p.Gly21Arg Uncertain significance Single submitter
- CMPK2 p.Gly388Val Uncertain significance Single submitter
- CMPK2 p.Gly421Ser Uncertain significance Single submitter
- CMPK2 p.His100Arg Uncertain significance Single submitter
- CMPK2 p.Ile257Thr Uncertain significance Single submitter
- CMPK2 p.Ile257Val Uncertain significance Single submitter
- CMPK2 p.Leu237His Uncertain significance Single submitter
- CMPK2 p.Leu35Val Uncertain significance Single submitter
- CMPK2 p.Lys265Glu Uncertain significance Single submitter
- CMPK2 p.Met27Thr Uncertain significance Single submitter
- CMPK2 p.Phe131Ser Uncertain significance Single submitter
- CMPK2 p.Pro194Arg Uncertain significance Single submitter
- CMPK2 p.Pro214Leu Uncertain significance Single submitter
- CMPK2 p.Pro284Ser Uncertain significance Single submitter
- CMPK2 p.Pro68Ser Uncertain significance Single submitter
- CMPK2 p.Ser308Phe Uncertain significance Single submitter
- CMPK2 p.Ser404Gly Uncertain significance Single submitter
- CMPK2 p.Thr269Ile Uncertain significance Single submitter
- CMPK2 p.Thr394Asn Uncertain significance Single submitter
- CMPK2 p.Thr80Ile Uncertain significance Single submitter
- CMPK2 p.Val203Leu Uncertain significance Single submitter
- CMPK2 p.Val203Met Uncertain significance Single submitter
- CMPK2 p.Val204Met Uncertain significance Single submitter
- CMPK2 p.Val212Phe Uncertain significance Single submitter
- CMPK2 p.Val327Met Uncertain significance Single submitter
-
CMPK2 p.Cys76Tyr
Uncertain significance
No assertion criteria
CMPK2-related disorder
Predictors split 44
The independent predictors disagree with each other — read with care.
- CMPK2 p.Ala156Thr Uncertain significance Single submitter
- CMPK2 p.Ala2Val Uncertain significance Single submitter
- CMPK2 p.Ala49Thr Uncertain significance Single submitter
- CMPK2 p.Ala51Thr Uncertain significance Single submitter
- CMPK2 p.Ala57Thr Uncertain significance Single submitter
- CMPK2 p.Ala63Val Uncertain significance Single submitter
- CMPK2 p.Arg104Cys Uncertain significance Single submitter
- CMPK2 p.Arg20Pro Uncertain significance Single submitter
- CMPK2 p.Arg216Trp Uncertain significance Single submitter
- CMPK2 p.Arg220Gln Uncertain significance Single submitter
- CMPK2 p.Arg407His Uncertain significance Single submitter
- CMPK2 p.Arg416Trp Uncertain significance Single submitter
- CMPK2 p.Arg61Cys Uncertain significance Single submitter
- CMPK2 p.Arg61Ser Uncertain significance Single submitter
- CMPK2 p.Arg9His Uncertain significance Single submitter
- CMPK2 p.Asp181Asn Likely benign Single submitter
- CMPK2 p.Glu163Gln Uncertain significance Single submitter
- CMPK2 p.Glu317Ala Uncertain significance Single submitter
- CMPK2 p.Glu36Asp Uncertain significance Single submitter
- CMPK2 p.Gly390Asp Uncertain significance Single submitter
- CMPK2 p.His201Gln Uncertain significance Single submitter
- CMPK2 p.His334Leu Uncertain significance Single submitter
-
CMPK2 p.His357Gln
Uncertain significance
Single submitter
CMPK2-related disorder
- CMPK2 p.Ile341Val Uncertain significance Single submitter
- CMPK2 p.Leu176Phe Uncertain significance Single submitter
- CMPK2 p.Leu37Phe Uncertain significance Single submitter
- CMPK2 p.Leu65Pro Uncertain significance Single submitter
- CMPK2 p.Leu99Met Uncertain significance Single submitter
- CMPK2 p.Lys251Glu Uncertain significance Single submitter
- CMPK2 p.Pro159Ser Uncertain significance Single submitter
- CMPK2 p.Pro168Leu Uncertain significance Single submitter
- CMPK2 p.Pro244Leu Uncertain significance Single submitter
- CMPK2 p.Pro326Leu Uncertain significance Single submitter
- CMPK2 p.Pro379Leu Uncertain significance Single submitter
- CMPK2 p.Pro81Leu Uncertain significance Single submitter
- CMPK2 p.Ser325Tyr Uncertain significance Single submitter
- CMPK2 p.Thr263Met Uncertain significance Single submitter
- CMPK2 p.Thr267Met Uncertain significance Single submitter
- CMPK2 p.Thr336Met Uncertain significance Single submitter
- CMPK2 p.Thr376Ile Uncertain significance Single submitter
- CMPK2 p.Thr437Met Likely benign Single submitter
- CMPK2 p.Val22Ile Uncertain significance Single submitter
- CMPK2 p.Val279Ile Uncertain significance Single submitter
- CMPK2 p.Val377Leu Uncertain significance Single submitter
All CMPK2 variants
Pathogenic 3
- p.Met1Leu No assertion criteria basal ganglia calcification, idiopathic, 10, autosomal recessive
- p.Met1Thr No assertion criteria basal ganglia calcification, idiopathic, 10, autosomal recessive
- p.Tyr414Cys No assertion criteria basal ganglia calcification, idiopathic, 10, autosomal recessive
Likely pathogenic 1
- p.Arg61fs Single submitter basal ganglia calcification, idiopathic, 10, autosomal recessive
Likely benign 9
- p.Arg234Gln Single submitter
- p.Asp181Asn Single submitter ⚠
- p.Gly10Arg Single submitter
- p.Gly25Arg Single submitter
- p.Met412Val Single submitter
- p.Ser316= Single submitter
- p.Thr267= Single submitter
- p.Thr437Met Single submitter ⚠
- p.Pro159Leu No assertion criteria CMPK2-related disorder
Uncertain significance 94
- p.Ala156Thr Single submitter ⚠
- p.Ala24Gly Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala49Ser Single submitter ⚠
- p.Ala49Thr Single submitter ⚠
- p.Ala4Ser Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Ala51Thr Single submitter ⚠
- p.Ala57Thr Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Ala87Thr Single submitter ⚠
- p.Ala91Ser Single submitter ⚠
- p.Arg104Cys Single submitter ⚠
- p.Arg20Pro Single submitter ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg220Gln Single submitter ⚠
- p.Arg220Leu Single submitter ⚠
- p.Arg382Lys Single submitter ⚠
- p.Arg407His Single submitter ⚠
- p.Arg416Trp Single submitter ⚠
- p.Arg5Cys Single submitter ⚠
- p.Arg61Cys Single submitter ⚠
- p.Arg61Ser Single submitter ⚠
- p.Arg9His Single submitter ⚠
- p.Arg9Ser Single submitter CMPK2-related disorder ⚠
- p.Asp138Ala Single submitter ⚠
- p.Asp215Glu Single submitter ⚠
- p.Asp215Gly Single submitter ⚠
- p.Cys110Arg Single submitter ⚠
- p.Cys117Ser Single submitter ⚠
- p.Cys119Tyr Single submitter ⚠
- p.Gln174Leu Single submitter ⚠
- p.Gln415His Single submitter ⚠
- p.Glu148Gln Single submitter ⚠
- p.Glu163Gln Single submitter ⚠
- p.Glu165Gln Single submitter ⚠
- p.Glu258Lys Single submitter ⚠
- p.Glu317Ala Single submitter ⚠
- p.Glu36Asp Single submitter ⚠
- p.Glu70Lys Single submitter ⚠
- p.Gly122Arg Single submitter ⚠
- p.Gly151Ala Single submitter ⚠
- p.Gly151Asp Single submitter ⚠
- p.Gly162Ser Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly388Val Single submitter ⚠
- p.Gly390Asp Single submitter ⚠
- p.Gly421Ser Single submitter ⚠
- p.His100Arg Single submitter ⚠
- p.His201Gln Single submitter ⚠
- p.His334Leu Single submitter ⚠
- p.His357Gln Single submitter CMPK2-related disorder ⚠
- p.Ile257Thr Single submitter ⚠
- p.Ile257Val Single submitter ⚠
- p.Ile341Val Single submitter ⚠
- p.Leu176Phe Single submitter ⚠
- p.Leu237His Single submitter ⚠
- p.Leu35Val Single submitter ⚠
- p.Leu37Phe Single submitter ⚠
- p.Leu65Pro Single submitter ⚠
- p.Leu99Met Single submitter ⚠
- p.Lys251Glu Single submitter ⚠
- p.Lys265Glu Single submitter ⚠
- p.Met27Thr Single submitter ⚠
- p.Phe131Ser Single submitter ⚠
- p.Pro159Ser Single submitter ⚠
- p.Pro168Leu Single submitter ⚠
- p.Pro194Arg Single submitter ⚠
- p.Pro214Leu Single submitter ⚠
- p.Pro244Leu Single submitter ⚠
- p.Pro284Ser Single submitter ⚠
- p.Pro326Leu Single submitter ⚠
- p.Pro379Leu Single submitter ⚠
- p.Pro68Ser Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Ser308Phe Single submitter ⚠
- p.Ser325Tyr Single submitter ⚠
- p.Ser404Gly Single submitter ⚠
- p.Thr263Met Single submitter ⚠
- p.Thr267Met Single submitter ⚠
- p.Thr269Ile Single submitter ⚠
- p.Thr336Met Single submitter ⚠
- p.Thr376Ile Single submitter ⚠
- p.Thr394Asn Single submitter ⚠
- p.Thr80Ile Single submitter ⚠
- p.Val203Leu Single submitter ⚠
- p.Val203Met Single submitter ⚠
- p.Val204Met Single submitter ⚠
- p.Val212Phe Single submitter ⚠
- p.Val22Ile Single submitter ⚠
- p.Val279Ile Single submitter ⚠
- p.Val327Met Single submitter ⚠
- p.Val377Leu Single submitter ⚠
- p.Cys76Tyr No assertion criteria CMPK2-related disorder ⚠