Related gene-specific medical variations for Gene (Select 7137) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248367	NC_000019.9:g.(?_55667549)_(55668032_?)dup	TNNI3	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2437136	NM_000363.5(TNNI3):c.200A>T (p.Glu67Val)	TNNI3 (E67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636539	NM_000363.5(TNNI3):c.224C>T (p.Ala75Val)	TNNI3 (A75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636484	NM_000363.5(TNNI3):c.370G>A (p.Glu124Lys)	TNNI3 (E124K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636350	NM_000363.5(TNNI3):c.276G>A (p.Glu92=)	TNNI3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 545499	NM_000363.5(TNNI3):c.627G>C (p.Glu209Asp)	TNNI3 (E209D)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 1	GUncertain significance

ClinVar