"PreventionGenetics, part of Exact Sciences"[submitter] AND "TNNT2"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 28

	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 188691	NM_001276345.2(TNNT2):c.851+22C>T	TNNT2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 43672	NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 256846	NM_001276345.2(TNNT2):c.811-33C>T	TNNT2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 43669	NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)	TNNT2 (K253R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +11 more	GBenign/Likely benign
Select item 43668	NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 43664	NM_001276345.2(TNNT2):c.720-4G>T	TNNT2	Single nucleotide variant (intron variant)	Sudden cardiac death +8 more	GConflicting classifications of pathogenicity
Select item 43666	NM_001276345.2(TNNT2):c.720-7C>T	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 256845	NM_001276345.2(TNNT2):c.601-32A>C	TNNT2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 537256	NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)	TNNT2 (R161C +3 more)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 43643	NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	not provided +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)	not provided +5 more	GUncertain significance
Select item 43632	NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)	TNNT2	Single nucleotide variant (synonymous variant +1 more)	Left ventricular noncompaction cardiomyopathy +10 more	GBenign/Likely benign
Select item 36884	NM_001276345.2(TNNT2):c.294+7G>A	TNNT2	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 43622	NM_001276345.2(TNNT2):c.270C>T (p.Pro90=)	TNNT2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 43621	NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43617	NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)	TNNT2	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction cardiomyopathy +10 more	GBenign/Likely benign
Select item 188681	NM_001276345.2(TNNT2):c.200-29C>G	TNNT2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 256843	NM_001276345.2(TNNT2):c.164-50G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +4 more	GBenign
Select item 43613	NM_001276345.2(TNNT2):c.163+12G>A	TNNT2	Single nucleotide variant (intron variant)	not provided +9 more	GBenign/Likely benign
Select item 228019	NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 43401	NM_001276345.2(TNNT2):c.68-8A>G	TNNT2	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 43652	NM_001276345.2(TNNT2):c.53-11_53-7del	TNNT2	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GBenign/Likely benign
Select item 188678	NM_001276345.2(TNNT2):c.42-20G>A	TNNT2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 256844	NM_001276345.2(TNNT2):c.42-29C>T	TNNT2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28