"Illumina Laboratory Services, Illumina"[submitter] AND "TNNT1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 893672	NM_003283.6(TNNT1):c.*129C>G	TNNT1	Single nucleotide variant (3 prime UTR variant)	Nemaline myopathy 5	GUncertain significance
Select item 893673	NM_003283.6(TNNT1):c.*110T>C	TNNT1	Single nucleotide variant (3 prime UTR variant)	Nemaline myopathy 5	GUncertain significance
Select item 330190	NM_003283.6(TNNT1):c.791+12C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5 +1 more	GConflicting classifications of pathogenicity
Select item 330191	NM_003283.6(TNNT1):c.757G>A (p.Val253Met)	TNNT1 (V253M +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 259035	NM_003283.6(TNNT1):c.751-5C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5 +2 more	GConflicting classifications of pathogenicity
Select item 330192	NM_003283.6(TNNT1):c.750+15C>T	TNNT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388590	NM_003283.6(TNNT1):c.611+12G>A	TNNT1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 330193	NM_003283.6(TNNT1):c.611+12G>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GConflicting classifications of pathogenicity
Select item 193862	NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn)	TNNT1 (D194N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 465996	NM_003283.6(TNNT1):c.535C>T (p.Arg179Trp)	TNNT1 (R179W +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 894347	NM_003283.6(TNNT1):c.487G>A (p.Gly163Ser)	TNNT1 (G163S +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5 +2 more	GUncertain significance
Select item 894348	NM_003283.6(TNNT1):c.366C>T (p.Arg122=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GConflicting classifications of pathogenicity
Select item 330194	NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys)	TNNT1 (E119K +1 more)	Single nucleotide variant (missense variant)	Nemaline Myopathy, Recessive +2 more	GUncertain significance
Select item 383122	NM_003283.6(TNNT1):c.310-14T>C	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5 +1 more	GConflicting classifications of pathogenicity
Select item 31856	NM_003283.6(TNNT1):c.279A>G (p.Glu93=)	TNNT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130602	NM_003283.6(TNNT1):c.129-9T>G	TNNT1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 330195	NM_003283.6(TNNT1):c.73+15T>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GConflicting classifications of pathogenicity
Select item 892902	NM_003283.6(TNNT1):c.73G>A (p.Ala25Thr)	TNNT1 (E25K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 259031	NM_003283.6(TNNT1):c.47-6C>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5 +2 more	GConflicting classifications of pathogenicity
Select item 31863	NM_003283.6(TNNT1):c.47-13C>T	TNNT1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 31865	NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)	TNNI3, TNNT1 (E12G)	Single nucleotide variant (missense variant)	Familial restrictive cardiomyopathy +5 more	GBenign/Likely benign
Select item 330196	NM_003283.6(TNNT1):c.34G>C (p.Glu12Gln)	TNNT1 (E12Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 130603	NM_003283.6(TNNT1):c.33-8G>A	TNNI3, TNNT1	Single nucleotide variant (intron variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +6 more	GBenign/Likely benign
Select item 330197	NM_003283.6(TNNT1):c.-12+15G>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline Myopathy, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 31855	NM_003283.6(TNNT1):c.-20A>G	TNNT1, TNNI3	Single nucleotide variant (5 prime UTR variant)	Dilated Cardiomyopathy, Recessive +6 more	GBenign/Likely benign
Select item 36881	NM_000363.5(TNNI3):c.373-10=	DNAAF3, TNNI3 +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity

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Items: 26