ClinVar for MedGen (Select 1057127) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381201	CMPK2, TYR414CYS	CMPK2	Variation	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE	GPathogenic
Select item 3381200	CMPK2, MET1?, 1A-C	CMPK2	Single nucleotide variant	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE	GPathogenic
Select item 3381199	CMPK2, MET1?, 2T-C	CMPK2	Single nucleotide variant	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE	GPathogenic

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