"PreventionGenetics, part of Exact Sciences"[submitter] AND "TNNI3"[ge - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 177679	NM_000363.5(TNNI3):c.611G>A (p.Arg204His)	TNNI3 (R204H)	Single nucleotide variant (missense variant)	TNNI3-related condition +3 more	GPathogenic/Likely pathogenic
Select item 43393	NM_000363.5(TNNI3):c.550-10C>T	TNNI3	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 181587	NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr)	TNNI3 (K183T)	Single nucleotide variant (missense variant)	TNNI3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 43391	NM_000363.5(TNNI3):c.537G>A (p.Glu179=)	DNAAF3, TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 43389	NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	TNNI3 (R162Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GPathogenic/Likely pathogenic
Select item 188675	NM_000363.5(TNNI3):c.471G>A (p.Ala157=)	TNNI3	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 43388	NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)	TNNI3 (A157V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 12426	NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	TNNI3 (R145W)	Single nucleotide variant (missense variant)	TNNI3-related condition +4 more	GPathogenic
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
Select item 43376	NM_000363.5(TNNI3):c.368C>T (p.Thr123Met)	TNNI3 (T123M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 525067	NM_000363.5(TNNI3):c.282+10C>G	TNNI3	Single nucleotide variant (intron variant)	TNNI3-related condition +1 more	GLikely benign
Select item 12421	NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)	TNNI3 (P82S)	Single nucleotide variant (missense variant)	Cardiomyopathy +12 more	GBenign/Likely benign
Select item 43366	NM_000363.5(TNNI3):c.204G>T (p.Arg68=)	DNAAF3, TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43364	NM_000363.5(TNNI3):c.198G>A (p.Glu66=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +10 more	GBenign/Likely benign
Select item 2633842	NM_000363.5(TNNI3):c.151-6C>A	TNNI3	Single nucleotide variant (intron variant)	TNNI3-related condition	GUncertain significance
Select item 43362	NM_000363.5(TNNI3):c.150+13G>A	DNAAF3, TNNI3	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive +9 more	GBenign/Likely benign
Select item 181597	NM_000363.5(TNNI3):c.131C>G (p.Ser44Trp)	TNNI3 (S44W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 255944	NM_000363.5(TNNI3):c.108+21G>A	TNNI3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 43370	NM_000363.5(TNNI3):c.25-4C>T	TNNI3	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 43371	NM_000363.5(TNNI3):c.25-8T>A	DNAAF3, TNNI3	Single nucleotide variant (intron variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +9 more	GBenign/Likely benign
Select item 137687	NM_000363.5(TNNI3):c.-35C>A	DNAAF3, TNNI3	Single nucleotide variant (5 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +8 more	GBenign/Likely benign
Select item 257685	NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 257684	NM_001256715.2(DNAAF3):c.1239-8A>G	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive +7 more	GBenign/Likely benign
Select item 257682	NM_001256715.2(DNAAF3):c.1164-14C>T	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (intron variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +6 more	GBenign/Likely benign
Select item 257680	NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 257679	NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)	DNAAF3, DNAAF3-AS1 +2 more (L381P +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 257676	NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)	DNAAF3, DNAAF3-AS1 +1 more (E339G +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 257695	NM_001256715.2(DNAAF3):c.790-14C>T	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (intron variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +7 more	GBenign/Likely benign
Select item 257694	NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 330217	NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +6 more	GConflicting classifications of pathogenicity
Select item 257691	NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)	DNAAF3, DNAAF3-AS1 +1 more (G224S +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 257689	NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 257688	NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)	DNAAF3-AS1, DNAAF3 +1 more	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign

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Items: 35