Related gene-specific medical variations for Gene (Select 7139) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582446	NM_001276345.2(TNNT2):c.433del (p.Ala145fs)	TNNT2 (A105fs +4 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1D	GLikely pathogenic
Select item 2437140	NM_001276345.2(TNNT2):c.295G>A (p.Asp99Asn)	TNNT2 (D84N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701922	NM_001276345.2(TNNT2):c.68-2A>G	TNNT2	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1D	GLikely pathogenic
Select item 1319259	NM_001276345.2(TNNT2):c.499G>C (p.Ala167Pro)	TNNT2 (A127P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1065187	NM_000364.2:c.411_412delinsTA	TNNT2	Indel	Hypertrophic cardiomyopathy	GUncertain significance
Select item 930401	NM_001276345.2(TNNT2):c.46C>A (p.Gln16Lys)	TNNT2 (Q16K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D	GUncertain significance
Select item 689531	NM_001276345.2(TNNT2):c.651G>C (p.Lys217Asn)	TNNT2 (K174N +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 636610	NM_001276345.2(TNNT2):c.609+1del	TNNT2	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 562477	NM_001276345.2(TNNT2):c.719+2T>A	TNNT2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 488163	NM_001276345.2(TNNT2):c.851+5G>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 427814	NM_001276345.2(TNNT2):c.247A>C (p.Asn83His)	TNNT2 (N73H +3 more)	Single nucleotide variant (missense variant)	Hypokinetic non-dilated cardiomyopathy	GUncertain significance
Select item 256844	NM_001276345.2(TNNT2):c.42-29C>T	TNNT2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 132939	NM_001276345.2(TNNT2):c.858G>A (p.Lys286=)	TNNT2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 91910	NM_001276345.2(TNNT2):c.245C>A (p.Pro82His)	TNNT2 (P72H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance