ClinVar for MedGen (Select 348695) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572423	NM_000363.5(TNNI3):c.124T>C (p.Ser42Pro)	TNNI3 (S42P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7	GUncertain significance
Select item 2444295	NM_000363.5(TNNI3):c.455A>G (p.Asp152Gly)	TNNI3 (D152G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7	GLikely pathogenic
Select item 1171378	NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys)	TNNI3 (R74C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1052513	NM_000363.5(TNNI3):c.587A>G (p.Asp196Gly)	TNNI3 (D196G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 992364	NM_000363.5(TNNI3):c.206G>A (p.Arg69His)	TNNI3 (R69H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 945741	NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg)	TNNI3 (K207R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 923475	NM_000363.5(TNNI3):c.217G>C (p.Gly73Arg)	TNNI3 (G73R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 894379	NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu)	TNNI3 (Q156E)	Single nucleotide variant (missense variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +3 more	GUncertain significance
Select item 894094	NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser)	DNAAF3-AS1, DNAAF3 +1 more (R108S +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7 +4 more	GUncertain significance
Select item 894093	NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=)	DNAAF3, DNAAF3-AS1 +2 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy, familial restrictive, 1 +4 more	GConflicting classifications of pathogenicity
Select item 894052	NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp)	TNNI3 (A35D)	Single nucleotide variant (missense variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +3 more	GUncertain significance
Select item 893714	NM_000363.5(TNNI3):c.*44A>G	TNNI3	Single nucleotide variant (3 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +3 more	GUncertain significance
Select item 893021	NM_000363.5(TNNI3):c.-45C>T	TNNI3	Single nucleotide variant (5 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +4 more	GUncertain significance
Select item 873501	NM_001281740.3(FHOD3):c.1943T>C (p.Ile648Thr)	FHOD3 (I473T +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7 +1 more	GUncertain significance
Select item 807896	NM_001276345.2(TNNT2):c.852-3C>T	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +5 more	GConflicting classifications of pathogenicity
Select item 629524	NM_000363.5(TNNI3):c.92C>T (p.Thr31Met)	TNNI3 (T31M)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 575867	NM_000363.5(TNNI3):c.347C>G (p.Ala116Gly)	TNNI3 (A116G)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 454401	NM_000363.5(TNNI3):c.104C>T (p.Ala35Val)	TNNI3 (A35V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 2A +5 more	GUncertain significance
Select item 419596	NM_000363.5(TNNI3):c.114dup (p.Ser39fs)	TNNI3 (S39fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 2A +6 more	GUncertain significance
Select item 391132	NM_000363.5(TNNI3):c.373-16C>T	TNNI3	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 378932	NM_000363.5(TNNI3):c.108+2T>G	TNNI3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 330199	NM_000363.5(TNNI3):c.283-9C>T	TNNI3	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 330198	NM_000363.5(TNNI3):c.550-11C>T	TNNI3	Single nucleotide variant (intron variant)	Cardiomyopathy, familial restrictive, 1 +3 more	GUncertain significance
Select item 264048	NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro)	TNNI3 (R74P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
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 237688	NM_000363.5(TNNI3):c.108+4G>T	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 7 +3 more	GUncertain significance
Select item 229330	NM_000363.5(TNNI3):c.109-15A>G	TNNI3	Single nucleotide variant (intron variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 188677	NM_000363.5(TNNI3):c.*35C>T	TNNI3	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 188674	NM_000363.5(TNNI3):c.439G>C (p.Val147Leu)	TNNI3 (V147L)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 188667	NM_000363.5(TNNI3):c.-47C>T	TNNI3	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy 7 +5 more	GConflicting classifications of pathogenicity
Select item 188666	NM_000363.5(TNNI3):c.-98C>A	TNNI3	Single nucleotide variant (5 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +4 more	GConflicting classifications of pathogenicity
Select item 181603	NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)	TNNI3 (S199N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 181580	NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)	TNNI3 (R141W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 181579	NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile)	TNNI3 (T119I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 181576	NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)	TNNI3 (R136Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 181575	NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter)	TNNI3 (R98*)	Single nucleotide variant (nonsense)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 179548	NM_000363.5(TNNI3):c.132G>C (p.Ser44=)	TNNI3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1FF +7 more	GLikely benign
Select item 177630	NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	TNNI3 (S166F)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 165526	NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr)	TNNI3 (I56T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7 +6 more	GUncertain significance
Select item 165522	NM_000363.5(TNNI3):c.258del (p.Leu88fs)	TNNI3 (L88fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 165519	NM_000363.5(TNNI3):c.372+7C>T	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 7 +5 more	GConflicting classifications of pathogenicity
Select item 165517	NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)	TNNI3 (R170G)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 1 +4 more	GConflicting classifications of pathogenicity
Select item 165510	NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)	TNNI3 (R192C)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 161396	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	TNNI3 (R162W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 137687	NM_000363.5(TNNI3):c.-35C>A	DNAAF3, TNNI3	Single nucleotide variant (5 prime UTR variant)	not provided +9 more	GBenign/Likely benign
Select item 137685	NM_000363.5(TNNI3):c.139T>C (p.Leu47=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 137684	NM_000363.5(TNNI3):c.109-17C>A	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +6 more	GBenign
Select item 43397	NM_000363.5(TNNI3):c.5C>T (p.Ala2Val)	TNNI3 (A2V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7 +4 more	GConflicting classifications of pathogenicity
Select item 43395	NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)	TNNI3 (R186Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
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 43390	NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro)	TNNI3 (R162P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 43389	NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	TNNI3 (R162Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 2A +8 more	GPathogenic/Likely pathogenic
Select item 43388	NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)	TNNI3 (A157V)	Single nucleotide variant (missense variant)	TNNI3-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 43384	NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	TNNI3 (R145Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7 +8 more	GPathogenic/Likely pathogenic
Select item 43381	NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)	TNNI3 (R141Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 2A +7 more	GPathogenic/Likely pathogenic
Select item 43378	NM_000363.5(TNNI3):c.373-4C>G	TNNI3	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 43377	NM_000363.5(TNNI3):c.373-15C>G	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 43375	NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)	TNNI3 (T119N)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 43372	NM_000363.5(TNNI3):c.273G>A (p.Ala91=)	TNNI3	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 43371	NM_000363.5(TNNI3):c.25-8T>A	DNAAF3, TNNI3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +10 more	GBenign/Likely benign
Select item 43367	NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)	TNNI3 (R79C)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43366	NM_000363.5(TNNI3):c.204G>T (p.Arg68=)	DNAAF3, TNNI3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +9 more	GConflicting classifications of pathogenicity
Select item 43364	NM_000363.5(TNNI3):c.198G>A (p.Glu66=)	TNNI3	Single nucleotide variant (synonymous variant)	not provided +10 more	GBenign/Likely benign
Select item 43363	NM_000363.5(TNNI3):c.151-6C>G	TNNI3	Single nucleotide variant (intron variant)	Cardiomyopathy, familial restrictive, 1 +7 more	GConflicting classifications of pathogenicity
Select item 43362	NM_000363.5(TNNI3):c.150+13G>A	DNAAF3, TNNI3	Single nucleotide variant (intron variant)	not provided +10 more	GBenign/Likely benign
Select item 36881	NM_000363.5(TNNI3):c.373-10=	DNAAF3, TNNI3 +1 more	Single nucleotide variant (intron variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +9 more	GConflicting classifications of pathogenicity
Select item 12434	NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)	TNNI3 (R21C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 12433	NM_000363.5(TNNI3):c.547_549del (p.Lys183del)	TNNI3 (K183del)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 7	GPathogenic
Select item 12432	NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser)	TNNI3 (G203S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7	GPathogenic
Select item 12425	NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)	TNNI3 (K178E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7	GPathogenic
Select item 12423	NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly)	TNNI3 (D190G)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 1 +1 more	GPathogenic
Select item 12422	NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)	TNNI3 (D196N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 12421	NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)	TNNI3 (P82S)	Single nucleotide variant (missense variant)	Familial restrictive cardiomyopathy +12 more	GBenign/Likely benign
Select item 12420	NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)	TNNI3 (K206Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7	GPathogenic
Select item 12419	NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)	TNNI3 (R145G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GPathogenic

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Items: 75