"TNNT2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 229339	NM_001276345.2(TNNT2):c.854C>A (p.Ser285Tyr)	TNNT2 (S275Y +5 more)	Single nucleotide variant (missense variant)	TNNT2-related disorder +1 more	GUncertain significance
Select item 43672	NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)	TNNT2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1D +7 more	GConflicting classifications of pathogenicity
Select item 43668	NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GLikely benign
Select item 43664	NM_001276345.2(TNNT2):c.720-4G>T	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +8 more	GConflicting classifications of pathogenicity
Select item 43666	NM_001276345.2(TNNT2):c.720-7C>T	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +5 more	GConflicting classifications of pathogenicity
Select item 537256	NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)	TNNT2 (R161C +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +7 more	GUncertain significance
Select item 43643	NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)	TNNT2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 43637	NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)	TNNT2 (R131Q +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +5 more	GPathogenic/Likely pathogenic
Select item 181616	NM_001276345.2(TNNT2):c.412G>A (p.Glu138Lys)	TNNT2 (E128K +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 43622	NM_001276345.2(TNNT2):c.270C>T (p.Pro90=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 43621	NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)	TNNT2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 228019	NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +6 more	GLikely benign
Select item 43401	NM_001276345.2(TNNT2):c.68-8A>G	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +6 more	GBenign
Select item 93442	NM_001276345.2(TNNT2):c.41+16A>G	TNNT2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2631596	NM_001276345.2(TNNT2):c.-9G>A	TNNT2	Single nucleotide variant (5 prime UTR variant +1 more)	TNNT2-related disorder	GUncertain significance