Related gene-specific medical variations for Gene (Select 57158) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067927	NM_020433.5(JPH2):c.2066T>A (p.Ile689Asn)	JPH2 (I689N)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E	GUncertain significance
Select item 3065017	NM_020433.5(JPH2):c.1039G>A (p.Val347Ile)	JPH2 (V347I)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E	GUncertain significance
Select item 1319704	NM_020433.5(JPH2):c.222A>G (p.Ile74Met)	JPH2 (I74M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683547	NM_020433.5(JPH2):c.1289-324A>T	JPH2, LOC121853007	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 636914	NM_020433.5(JPH2):c.1489C>T (p.Pro497Ser)	JPH2 (P497S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636877	NM_020433.5(JPH2):c.541del (p.Ala181fs)	JPH2 (A181fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 636764	NM_020433.5(JPH2):c.412C>A (p.Arg138Ser)	JPH2 (R138S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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