"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 144

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 629455	NM_000363.5(TNNI3):c.*3C>T	TNNI3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3072237	NM_000363.5(TNNI3):c.632G>C (p.Ter211Ser)	TNNI3	Single nucleotide variant (stop lost)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 181596	NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu)	TNNI3	Single nucleotide variant (stop lost)	not provided +2 more	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 695198	NM_000363.5(TNNI3):c.606G>A (p.Glu202=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 3071624	NM_000363.5(TNNI3):c.588T>C (p.Asp196=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
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 918687	NM_000363.5(TNNI3):c.585C>T (p.Ile195=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 519178	NM_000363.5(TNNI3):c.581A>C (p.Asn194Thr)	TNNI3 (N194T)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1616902	NM_000363.5(TNNI3):c.570C>T (p.Asp190=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 629559	NM_000363.5(TNNI3):c.567A>G (p.Gly189=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3069974	NM_000363.5(TNNI3):c.556C>A (p.Arg186=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 546467	NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)	TNNI3 (R186W)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +4 more	GConflicting classifications of pathogenicity
Select item 927146	NM_000363.5(TNNI3):c.550-13C>T	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 922772	NM_000363.5(TNNI3):c.550-14T>C	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
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 919078	NM_000363.5(TNNI3):c.522G>A (p.Lys174=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 924733	NM_000363.5(TNNI3):c.516C>T (p.His172=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 924395	NM_000363.5(TNNI3):c.508C>A (p.Arg170=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 427197	NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn)	TNNI3 (D168N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 177630	NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	TNNI3 (S166F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 383149	NM_000363.5(TNNI3):c.493G>T (p.Glu165Ter)	TNNI3 (E165*)	Single nucleotide variant (nonsense)	not provided +1 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 +8 more	GPathogenic/Likely pathogenic
Select item 3071848	NM_000363.5(TNNI3):c.484C>G (p.Arg162Gly)	TNNI3 (R162G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 161396	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	TNNI3 (R162W)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 454406	NM_000363.5(TNNI3):c.482C>T (p.Ala161Val)	TNNI3 (A161V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 381300	NM_000363.5(TNNI3):c.474G>C (p.Leu158=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 188675	NM_000363.5(TNNI3):c.471G>A (p.Ala157=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 43388	NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)	TNNI3 (A157V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 3070842	NM_000363.5(TNNI3):c.450T>C (p.Ser150=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
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 43384	NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	TNNI3 (R145Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +8 more	GPathogenic/Likely pathogenic
Select item 3071814	NM_000363.5(TNNI3):c.433C>A (p.Arg145=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 12426	NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	TNNI3 (R145W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GPathogenic
Select item 924678	NM_000363.5(TNNI3):c.432G>C (p.Leu144=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 43382	NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)	TNNI3 (T143N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2901278	NM_000363.5(TNNI3):c.425C>A (p.Pro142His)	TNNI3 (P142H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1382452	NM_000363.5(TNNI3):c.425C>T (p.Pro142Leu)	TNNI3 (P142L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1171307	NM_000363.5(TNNI3):c.416T>G (p.Phe139Cys)	TNNI3 (F139C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 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 629626	NM_000363.5(TNNI3):c.389A>G (p.Gln130Arg)	TNNI3 (Q130R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1947258	NM_000363.5(TNNI3):c.384G>T (p.Leu128=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 43379	NM_000363.5(TNNI3):c.384G>A (p.Leu128=)	TNNI3	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3071592	NM_000363.5(TNNI3):c.376G>A (p.Ala126Thr)	TNNI3 (A126T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 525103	NM_000363.5(TNNI3):c.373-8G>A	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 927665	NM_000363.5(TNNI3):c.373-11T>A	TNNI3	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1112319	NM_000363.5(TNNI3):c.369G>A (p.Thr123=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 43376	NM_000363.5(TNNI3):c.368C>T (p.Thr123Met)	TNNI3 (T123M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 43375	NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)	TNNI3 (T119N)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +11 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 2873913	NM_000363.5(TNNI3):c.344A>C (p.Glu115Ala)	TNNI3 (E115A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1464755	NM_000363.5(TNNI3):c.341T>C (p.Ile114Thr)	TNNI3 (I114T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 181578	NM_000363.5(TNNI3):c.340A>G (p.Ile114Val)	TNNI3 (I114V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 228018	NM_000363.5(TNNI3):c.336C>T (p.Tyr112=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 181600	NM_000363.5(TNNI3):c.331A>G (p.Arg111Gly)	TNNI3 (R111G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 844689	NM_000363.5(TNNI3):c.322G>A (p.Asp108Asn)	TNNI3 (D108N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 3069390	NM_000363.5(TNNI3):c.319G>T (p.Val107Leu)	TNNI3 (V107L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 385537	NM_000363.5(TNNI3):c.309T>C (p.Arg103=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 181577	NM_000363.5(TNNI3):c.308G>A (p.Arg103His)	TNNI3 (R103H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 43374	NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys)	TNNI3 (R103C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 165521	NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)	TNNI3 (A102T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43373	NM_000363.5(TNNI3):c.303C>T (p.His101=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1153166	NM_000363.5(TNNI3):c.300C>G (p.Leu100=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 427955	NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe)	TNNI3 (L100F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 628991	NM_000363.5(TNNI3):c.294A>G (p.Arg98=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 449314	NM_000363.5(TNNI3):c.293G>A (p.Arg98Gln)	TNNI3 (R98Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 918189	NM_000363.5(TNNI3):c.283-13G>T	TNNI3	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 3071155	NM_000363.5(TNNI3):c.282+5C>T	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 237690	NM_000363.5(TNNI3):c.282+5C>G	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 853502	NM_000363.5(TNNI3):c.282+2T>A	TNNI3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 525020	NM_000363.5(TNNI3):c.278T>C (p.Leu93Pro)	TNNI3 (L93P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 924276	NM_000363.5(TNNI3):c.274G>A (p.Glu92Lys)	TNNI3 (E92K)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 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 3074408	NM_000363.5(TNNI3):c.272C>T (p.Ala91Val)	TNNI3 (A91V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 920505	NM_000363.5(TNNI3):c.259G>C (p.Gly87Arg)	TNNI3 (G87R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 764244	NM_000363.5(TNNI3):c.258C>G (p.Ala86=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 165523	NM_000363.5(TNNI3):c.258C>T (p.Ala86=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 165522	NM_000363.5(TNNI3):c.258del (p.Leu88fs)	TNNI3 (L88fs)	Deletion (frameshift variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 43369	NM_000363.5(TNNI3):c.246G>T (p.Pro82=)	TNNI3	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 43368	NM_000363.5(TNNI3):c.236G>T (p.Arg79Leu)	TNNI3 (R79L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 3072105	NM_000363.5(TNNI3):c.230G>T (p.Ser77Ile)	TNNI3 (S77I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 924314	NM_000363.5(TNNI3):c.226C>T (p.Leu76=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
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 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 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 1124201	NM_000363.5(TNNI3):c.213G>A (p.Glu71=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 454404	NM_000363.5(TNNI3):c.207C>G (p.Arg69=)	TNNI3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 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 2774622	NM_000363.5(TNNI3):c.197A>G (p.Glu66Gly)	TNNI3 (E66G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1643098	NM_000363.5(TNNI3):c.195G>A (p.Ala65=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 373938	NM_000363.5(TNNI3):c.194C>T (p.Ala65Val)	TNNI3 (A65V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 2564935	NM_000363.5(TNNI3):c.190G>C (p.Glu64Gln)	TNNI3 (E64Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3073257	NM_000363.5(TNNI3):c.188G>A (p.Arg63Gln)	TNNI3 (R63Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 580939	NM_000363.5(TNNI3):c.164A>C (p.Gln55Pro)	TNNI3 (Q55P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 330200	NM_000363.5(TNNI3):c.157C>T (p.Leu53=)	TNNI3	Single nucleotide variant (synonymous variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +4 more	GConflicting classifications of pathogenicity
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 968034	NM_000363.5(TNNI3):c.150+1G>C	TNNI3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GUncertain significance

<< First< Prev

Page of 2