ClinVar for Gene (Select 7139) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3232333	NM_001276345.2(TNNT2):c.867G>A (p.Gly289=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232332	NM_001276345.2(TNNT2):c.820C>A (p.Leu274Ile)	TNNT2 (L231I +7 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232331	NM_001276345.2(TNNT2):c.583G>T (p.Gly195Trp)	TNNT2 (G155W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232330	NM_001276345.2(TNNT2):c.569_571dup (p.Asn190_Met191insAsn)	TNNT2	Duplication (inframe_insertion)	Cardiovascular phenotype	GUncertain significance
Select item 3232329	NM_001276345.2(TNNT2):c.472C>A (p.Arg158=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232328	NM_001276345.2(TNNT2):c.446G>T (p.Arg149Leu)	TNNT2 (R109L +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232327	NM_001276345.2(TNNT2):c.352G>T (p.Ala118Ser)	TNNT2 (A103S +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232326	NM_001276345.2(TNNT2):c.294+4A>C	TNNT2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3075437	NM_001276345.2(TNNT2):c.719+1G>A	TNNT2	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GUncertain significance
Select item 3075379	NM_001276345.2(TNNT2):c.419G>T (p.Arg140Leu)	TNNT2 (R100L +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075224	NM_001276345.2(TNNT2):c.188A>G (p.Lys63Arg)	TNNT2 (K48R +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075175	NM_001276345.2(TNNT2):c.64G>A (p.Glu22Lys)	TNNT2 (E22K)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3075099	NM_001276345.2(TNNT2):c.173A>G (p.Glu58Gly)	TNNT2 (E43G +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3075059	NM_001276345.2(TNNT2):c.185C>A (p.Ala62Glu)	TNNT2 (A47E +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3074934	NM_001276345.2(TNNT2):c.164-12T>C	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3074613	NM_001276345.2(TNNT2):c.610-8C>A	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3074548	NM_001276345.2(TNNT2):c.412-9T>A	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3074506	NM_001276345.2(TNNT2):c.688G>T (p.Ala230Ser)	TNNT2 (A187S +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3074176	NM_001276345.2(TNNT2):c.510G>A (p.Glu170=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073953	NM_001276345.2(TNNT2):c.412G>T (p.Glu138Ter)	TNNT2 (E123* +4 more)	Single nucleotide variant (nonsense)	Cardiomyopathy	GUncertain significance
Select item 3073943	NM_001276345.2(TNNT2):c.181G>A (p.Glu61Lys)	TNNT2 (E46K +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073863	NM_001276345.2(TNNT2):c.793A>C (p.Lys265Gln)	TNNT2 (K222Q +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073630	NM_001276345.2(TNNT2):c.67+4T>C	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3073573	NM_001276345.2(TNNT2):c.163+2T>G	TNNT2	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GUncertain significance
Select item 3073354	NM_001276345.2(TNNT2):c.685C>T (p.Leu229=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3073202	NM_001276345.2(TNNT2):c.48G>T (p.Gln16His)	TNNT2 (Q16H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3073167	NM_001276345.2(TNNT2):c.390C>G (p.Leu130=)	TNNT2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3072936	NM_001276345.2(TNNT2):c.490-15C>T	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3072837	NM_001276345.2(TNNT2):c.746G>A (p.Ser249Asn)	TNNT2 (S206N +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3072814	NM_001276345.2(TNNT2):c.295-10C>T	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3072712	NM_001276345.2(TNNT2):c.98-2A>T	TNNT2	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 3072460	NM_001276345.2(TNNT2):c.29A>G (p.Glu10Gly)	TNNT2 (E10G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3072234	NM_001276345.2(TNNT2):c.163+3_163+6del	TNNT2	Deletion (splice donor variant)	Cardiomyopathy	GUncertain significance
Select item 3071966	NM_001276345.2(TNNT2):c.600+2T>C	TNNT2	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GUncertain significance
Select item 3071777	NM_001276345.2(TNNT2):c.479A>G (p.Asn160Ser)	TNNT2 (N120S +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3071578	NM_001276345.2(TNNT2):c.669T>C (p.Ala223=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3071410	NM_001276345.2(TNNT2):c.12A>G (p.Ile4Met)	TNNT2 (I4M)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3071246	NM_001276345.2(TNNT2):c.164-3del	TNNT2	Deletion (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3071202	NM_001276345.2(TNNT2):c.640G>C (p.Glu214Gln)	TNNT2 (E171Q +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3071070	NM_001276345.2(TNNT2):c.42-5C>T	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3071020	NM_001276345.2(TNNT2):c.53-9del	TNNT2	Deletion (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3071019	NM_001276345.2(TNNT2):c.53-15_53-12del	TNNT2	Deletion (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3070859	NM_001276345.2(TNNT2):c.681G>T (p.Lys227Asn)	TNNT2 (K184N +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3070761	NM_001276345.2(TNNT2):c.811-8dup	TNNT2	Duplication (intron variant)	Cardiomyopathy	GLikely benign
Select item 3070501	NM_001276345.2(TNNT2):c.448A>C (p.Ile150Leu)	TNNT2 (I110L +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3070500	NM_001276345.2(TNNT2):c.449T>A (p.Ile150Asn)	TNNT2 (I110N +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3070498	NM_001276345.2(TNNT2):c.132A>G (p.Ala44=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3070478	NM_001276345.2(TNNT2):c.719+6G>T	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3070473	NM_001276345.2(TNNT2):c.401_402del (p.Lys134fs)	TNNT2 (K119fs +3 more)	Deletion (frameshift variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3070439	NM_001276345.2(TNNT2):c.601-15G>C	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3070402	NM_001276345.2(TNNT2):c.609+3_609+6del	TNNT2	Deletion (intron variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3070111	NM_001276345.2(TNNT2):c.720-10G>C	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3070007	NM_001276345.2(TNNT2):c.793A>G (p.Lys265Glu)	TNNT2 (K222E +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3069835	NM_001276345.2(TNNT2):c.839A>G (p.Asp280Gly)	TNNT2 (D237G +7 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3069422	NM_001276345.2(TNNT2):c.57A>G (p.Ala19=)	TNNT2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3069336	NM_001276345.2(TNNT2):c.610-11A>G	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 3027060	NM_001276345.2(TNNT2):c.97+1G>A	TNNT2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2954509	NM_001276345.2(TNNT2):c.714G>A (p.Gln238=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2954319	NM_001276345.2(TNNT2):c.720-14C>G	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2954136	NM_001276345.2(TNNT2):c.251T>G (p.Leu84Trp)	TNNT2 (L74W +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2953536	NM_001276345.2(TNNT2):c.425C>T (p.Ala142Val)	TNNT2 (A127V +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2953476	NM_001276345.2(TNNT2):c.295-11T>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2953222	NM_001276345.2(TNNT2):c.505C>G (p.Arg169Gly)	TNNT2 (R158G +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2952505	NM_001276345.2(TNNT2):c.98-13T>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2951920	NM_001276345.2(TNNT2):c.507A>G (p.Arg169=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2951810	NM_001276345.2(TNNT2):c.264G>C (p.Lys88Asn)	TNNT2 (K87N +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2951746	NM_001276345.2(TNNT2):c.67+5G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2951705	NM_001276345.2(TNNT2):c.218C>A (p.Ser73Tyr)	TNNT2 (S63Y +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2951177	NM_001276345.2(TNNT2):c.771G>C (p.Lys257Asn)	TNNT2 (K242N +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2950981	NM_001276345.2(TNNT2):c.52+18T>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2950891	NM_001276345.2(TNNT2):c.851+11G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2950879	NM_001276345.2(TNNT2):c.840T>C (p.Asp280=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2950575	NM_001276345.2(TNNT2):c.200-11A>T	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2950512	NM_001276345.2(TNNT2):c.600+13CAG[3]	TNNT2	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2949698	NM_001276345.2(TNNT2):c.420T>C (p.Arg140=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2948317	NM_001276345.2(TNNT2):c.41+14G>A	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2948219	NM_001276345.2(TNNT2):c.851+8T>C	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2947074	NM_001276345.2(TNNT2):c.322G>C (p.Asp108His)	TNNT2 (D97H +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2945801	NM_001276345.2(TNNT2):c.818_819insACTCCGAAACAGGATCAACGT (p.Asn279_Asp280insValLeuArgAsnArgIleAsn)	TNNT2	Insertion (inframe_insertion)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2945008	NM_001276345.2(TNNT2):c.42-11G>C	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +2 more	GLikely benign
Select item 2944535	NM_001276345.2(TNNT2):c.234-13C>A	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +2 more	GLikely benign
Select item 2944218	NM_001276345.2(TNNT2):c.52G>T (p.Glu18Ter)	TNNT2 (E18*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 2944143	NM_001276345.2(TNNT2):c.58G>T (p.Ala20Ser)	TNNT2 (A20S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 2943802	NM_001276345.2(TNNT2):c.323A>T (p.Asp108Val)	TNNT2 (D108V +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1D +2 more	GUncertain significance
Select item 2943501	NM_001276345.2(TNNT2):c.200-15T>G	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2942961	NM_001276345.2(TNNT2):c.272_274del (p.Asp91del)	TNNT2 (D91del +4 more)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2942492	NM_001276345.2(TNNT2):c.632G>C (p.Arg211Thr)	TNNT2 (R200T +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2942464	NM_001276345.2(TNNT2):c.558G>A (p.Lys186=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2942386	NM_001276345.2(TNNT2):c.304C>G (p.Arg102Gly)	TNNT2 (R92G +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +2 more	GLikely pathogenic
Select item 2942251	NM_001276345.2(TNNT2):c.397C>T (p.Leu133Phe)	TNNT2 (L118F +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +3 more	GUncertain significance
Select item 2941703	NM_001276345.2(TNNT2):c.650AGA[2] (p.Lys219_Lys220del)	TNNT2	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2941432	NM_001276345.2(TNNT2):c.807T>C (p.Tyr269=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2940504	NM_001276345.2(TNNT2):c.42-5C>G	TNNT2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2940034	NM_001276345.2(TNNT2):c.891G>C (p.Trp297Cys)	TNNT2 (W287C +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2939767	NM_001276345.2(TNNT2):c.668C>T (p.Ala223Val)	TNNT2 (A207V +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GUncertain significance
Select item 2939571	NM_001276345.2(TNNT2):c.281G>T (p.Arg94Ile)	TNNT2 (R79I +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +2 more	GLikely pathogenic
Select item 2939403	NM_001276345.2(TNNT2):c.852-9C>T	TNNT2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1D +2 more	GLikely benign
Select item 2939274	NM_001276345.2(TNNT2):c.609+1G>A	TNNT2	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1D +2 more	GUncertain significance

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