ClinVar for MedGen (Select 1824069) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443825	NM_004317.4(GET3):c.488T>C (p.Val163Ala)	GET3 (V163A)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2H	GPathogenic
Select item 2443824	NM_004317.4(GET3):c.[867C>G;913C>T]	GET3	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy, dilated, 2H	GPathogenic