C1861864[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294893	NM_001276345.2(TNNT2):c.*66G>A	TNNT2	Single nucleotide variant (3 prime UTR variant)	Familial restrictive cardiomyopathy +7 more	GBenign/Likely benign
Select item 875245	NM_001276345.2(TNNT2):c.*39C>T	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876212	NM_001276345.2(TNNT2):c.*37C>G	TNNT2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 876211	NM_001276345.2(TNNT2):c.*37C>T	TNNT2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 874384	NM_001276345.2(TNNT2):c.810+8G>T	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 874385	NM_001276345.2(TNNT2):c.810+7C>T	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +2 more	GConflicting classifications of pathogenicity
Select item 43669	NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)	TNNT2 (K253R +5 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy +11 more	GBenign/Likely benign
Select item 43667	NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)	TNNT2 (E244D +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 181605	NM_001276345.2(TNNT2):c.720-5T>G	TNNT2	Single nucleotide variant (intron variant)	Familial restrictive cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43665	NM_001276345.2(TNNT2):c.720-6G>A	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 43666	NM_001276345.2(TNNT2):c.720-7C>T	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +5 more	GConflicting classifications of pathogenicity
Select item 294894	NM_001276345.2(TNNT2):c.720-9C>A	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 876259	NM_001276345.2(TNNT2):c.719+9T>C	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy, familial restrictive, 3 +2 more	GUncertain significance
Select item 181604	NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)	TNNT2 (I221T +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +7 more	GConflicting classifications of pathogenicity
Select item 294895	NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)	TNNT2 (I228V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 43657	NM_001276345.2(TNNT2):c.601-8C>T	TNNT2	Single nucleotide variant (intron variant)	Left ventricular noncompaction cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43654	NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe)	TNNT2 (L178F +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 181612	NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)	TNNT2 (A172S +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 43641	NM_001276345.2(TNNT2):c.474G>C (p.Arg158=)	TNNT2	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction cardiomyopathy +8 more	GBenign/Likely benign
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 43630	NM_001276345.2(TNNT2):c.313A>G (p.Met105Val)	TNNT2 (M105V +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1D +3 more	GUncertain significance
Select item 36884	NM_001276345.2(TNNT2):c.294+7G>A	TNNT2	Single nucleotide variant (intron variant)	not provided +9 more	GBenign/Likely benign
Select item 43621	NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)	TNNT2	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 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 43616	NM_001276345.2(TNNT2):c.233+6T>C	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 188682	NM_001276345.2(TNNT2):c.200-11A>G	TNNT2	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 43613	NM_001276345.2(TNNT2):c.163+12G>A	TNNT2	Single nucleotide variant (intron variant)	Left ventricular noncompaction cardiomyopathy +9 more	GBenign/Likely benign
Select item 43675	NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)	TNNT2 (A28V +2 more)	Single nucleotide variant	Hypertrophic cardiomyopathy 2 +8 more	GConflicting classifications of pathogenicity
Select item 875449	NM_001276345.2(TNNT2):c.67+12A>G	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +2 more	GConflicting classifications of pathogenicity
Select item 43660	NM_001276345.2(TNNT2):c.63T>G (p.Val21=)	TNNT2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 43652	NM_001276345.2(TNNT2):c.53-11_53-7del	TNNT2	Microsatellite (intron variant)	Left ventricular noncompaction cardiomyopathy +9 more	GBenign/Likely benign
Select item 43651	NM_001276345.2(TNNT2):c.52+7G>A	TNNT2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 294896	NM_001276345.2(TNNT2):c.-1C>A	TNNT2	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 294898	NM_001276345.2(TNNT2):c.-22G>C	TNNT2	Single nucleotide variant (5 prime UTR variant)	Left ventricular noncompaction cardiomyopathy +3 more	GUncertain significance

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Items: 34