C0340429[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294893	NM_001276345.2(TNNT2):c.*66G>A	TNNT2	Single nucleotide variant (3 prime UTR variant)	Familial restrictive cardiomyopathy +7 more	GBenign/Likely benign
Select item 43669	NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)	TNNT2 (K253R +5 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy +11 more	GBenign/Likely benign
Select item 181605	NM_001276345.2(TNNT2):c.720-5T>G	TNNT2	Single nucleotide variant (intron variant)	Familial restrictive cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 294895	NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)	TNNT2 (I228V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 43657	NM_001276345.2(TNNT2):c.601-8C>T	TNNT2	Single nucleotide variant (intron variant)	Left ventricular noncompaction cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43632	NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)	TNNT2	Single nucleotide variant (synonymous variant +1 more)	Left ventricular noncompaction cardiomyopathy +10 more	GBenign/Likely benign
Select item 36884	NM_001276345.2(TNNT2):c.294+7G>A	TNNT2	Single nucleotide variant (intron variant)	not provided +9 more	GBenign/Likely benign
Select item 43617	NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)	TNNT2	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction cardiomyopathy +10 more	GBenign/Likely benign
Select item 43613	NM_001276345.2(TNNT2):c.163+12G>A	TNNT2	Single nucleotide variant (intron variant)	Left ventricular noncompaction cardiomyopathy +9 more	GBenign/Likely benign
Select item 43652	NM_001276345.2(TNNT2):c.53-11_53-7del	TNNT2	Microsatellite (intron variant)	Left ventricular noncompaction cardiomyopathy +9 more	GBenign/Likely benign
Select item 294897	NM_001276345.2(TNNT2):c.-22G>T	TNNT2	Single nucleotide variant (5 prime UTR variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 876668	NM_001100.4(ACTA1):c.*248G>A	ACTA1	Single nucleotide variant (3 prime UTR variant)	Actin accumulation myopathy +2 more	GConflicting classifications of pathogenicity
Select item 876669	NM_001100.4(ACTA1):c.*66G>A	ACTA1	Single nucleotide variant (3 prime UTR variant)	Actin accumulation myopathy +2 more	GUncertain significance
Select item 873830	NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy +2 more	GConflicting classifications of pathogenicity
Select item 464116	NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 296051	NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met)	ACTA1 (I371M)	Single nucleotide variant (missense variant)	Familial restrictive cardiomyopathy +2 more	GUncertain significance
Select item 93555	NM_001100.4(ACTA1):c.996C>A (p.Ile332=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +3 more	GBenign/Likely benign
Select item 296052	NM_001100.4(ACTA1):c.966G>A (p.Leu322=)	ACTA1	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +2 more	GUncertain significance
Select item 740066	NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 210091	NM_001100.4(ACTA1):c.867C>T (p.Ile289=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 296053	NM_001100.4(ACTA1):c.809-13_809-12dup	ACTA1	Duplication (intron variant)	Familial restrictive cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 93551	NM_001100.4(ACTA1):c.809-13dup	ACTA1	Duplication (intron variant)	Congenital myopathy with fiber type disproportion +5 more	GBenign/Likely benign
Select item 296054	NM_001100.4(ACTA1):c.809-14_809-13insA	ACTA1	Insertion (intron variant)	Familial restrictive cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 93552	NM_001100.4(ACTA1):c.809-14G>C	ACTA1	Single nucleotide variant (intron variant)	Familial restrictive cardiomyopathy +4 more	GBenign
Select item 296055	NM_001100.4(ACTA1):c.809-16_809-15insG	ACTA1	Insertion (intron variant)	Familial restrictive cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 706552	NM_001100.4(ACTA1):c.786G>C (p.Thr262=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 296056	NM_001100.4(ACTA1):c.549G>A (p.Ala183=)	ACTA1	Single nucleotide variant (synonymous variant)	ACTA1-related condition +4 more	GBenign/Likely benign
Select item 876712	NM_001100.4(ACTA1):c.480C>A (p.Gly160=)	ACTA1	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +2 more	GUncertain significance
Select item 296057	NM_001100.4(ACTA1):c.454+3G>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy +3 more	GConflicting classifications of pathogenicity
Select item 873885	NM_001100.4(ACTA1):c.453C>G (p.Thr151=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy +2 more	GConflicting classifications of pathogenicity
Select item 257445	NM_001100.4(ACTA1):c.453C>A (p.Thr151=)	ACTA1	Single nucleotide variant (synonymous variant)	Progressive scapulohumeroperoneal distal myopathy +5 more	GBenign/Likely benign
Select item 874835	NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy +2 more	GConflicting classifications of pathogenicity
Select item 128259	NM_001100.4(ACTA1):c.132C>T (p.Gly44=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 93547	NM_001100.4(ACTA1):c.130-5T>C	ACTA1	Single nucleotide variant (intron variant)	Familial restrictive cardiomyopathy +4 more	GBenign
Select item 93546	NM_001100.4(ACTA1):c.130-10G>C	ACTA1	Single nucleotide variant (intron variant)	Familial restrictive cardiomyopathy +4 more	GBenign
Select item 296058	NM_001100.4(ACTA1):c.129+14T>C	ACTA1	Single nucleotide variant (intron variant)	Familial restrictive cardiomyopathy +2 more	GUncertain significance
Select item 296059	NM_001100.4(ACTA1):c.108C>T (p.Ile36=)	ACTA1	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +2 more	GConflicting classifications of pathogenicity
Select item 876767	NM_001100.4(ACTA1):c.81C>T (p.Asp27=)	ACTA1	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +2 more	GUncertain significance
Select item 296061	NM_001100.4(ACTA1):c.-66_-65delinsTC	ACTA1, LOC122152321	Indel (5 prime UTR variant)	Nemaline myopathy +2 more	GUncertain significance
Select item 296060	NM_001100.4(ACTA1):c.-65T>C	ACTA1, LOC122152321	Single nucleotide variant (5 prime UTR variant)	Familial restrictive cardiomyopathy +3 more	GBenign
Select item 296062	NM_001100.4(ACTA1):c.-66C>T	ACTA1, LOC122152321	Single nucleotide variant (5 prime UTR variant)	Familial restrictive cardiomyopathy +3 more	GBenign
Select item 199875	NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)	DSP (R925Q)	Single nucleotide variant (missense variant)	Familial restrictive cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 315646	NM_005159.4(ACTC1):c.*2168G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315650	NM_005159.4(ACTC1):c.*1797C>A	GJD2-DT, ACTC1	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315651	NM_005159.4(ACTC1):c.*1781C>T	ACTC1, GJD2-DT	Single nucleotide variant	ACTC1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 315652	NM_005159.4(ACTC1):c.*1753G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315656	NM_005159.4(ACTC1):c.*1502G>T	GJD2-DT, ACTC1	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315657	NM_005159.4(ACTC1):c.*1482G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315660	NM_005159.4(ACTC1):c.*1318T>G	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315664	NM_005159.4(ACTC1):c.*1115A>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315665	NM_005159.4(ACTC1):c.*1090A>G	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315666	NM_005159.4(ACTC1):c.*1070A>C	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315667	NM_005159.4(ACTC1):c.*1062G>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315670	NM_005159.4(ACTC1):c.*983C>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315671	NM_005159.4(ACTC1):c.*935G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315678	NM_005159.4(ACTC1):c.*775C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315681	NM_005159.4(ACTC1):c.*739G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315683	NM_005159.4(ACTC1):c.*708G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315685	NM_005159.4(ACTC1):c.*674C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315686	NM_005159.4(ACTC1):c.*646C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315687	NM_005159.4(ACTC1):c.*643C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315689	NM_005159.4(ACTC1):c.*561C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315692	NM_005159.4(ACTC1):c.*422T>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315695	NM_005159.4(ACTC1):c.*307T>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315696	NM_005159.4(ACTC1):c.*284G>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315698	NM_005159.4(ACTC1):c.*247G>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315699	NM_005159.4(ACTC1):c.*224G>C	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315703	NM_005159.5(ACTC1):c.978C>A (p.Thr326=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315704	NM_005159.5(ACTC1):c.809-12_809-11insGT	ACTC1, GJD2-DT	Insertion (intron variant)	Hypertrophic cardiomyopathy 11 +7 more	GConflicting classifications of pathogenicity
Select item 315710	NM_005159.5(ACTC1):c.809-58TG[25]	GJD2-DT, ACTC1	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 315706	NM_005159.5(ACTC1):c.809-58TG[26]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 315705	NM_005159.5(ACTC1):c.809-58TG[24]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 315709	NM_005159.5(ACTC1):c.809-58TG[17]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 11 +10 more	GConflicting classifications of pathogenicity
Select item 315708	NM_005159.5(ACTC1):c.809-58TG[21]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 11 +10 more	GConflicting classifications of pathogenicity
Select item 315707	NM_005159.5(ACTC1):c.809-58TG[22]	GJD2-DT, ACTC1	Microsatellite (intron variant)	Dilated cardiomyopathy 1R +9 more	GConflicting classifications of pathogenicity
Select item 315713	NM_005159.5(ACTC1):c.-36C>G	ACTC1, GJD2-DT	Single nucleotide variant (5 prime UTR variant)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 315714	NM_005159.5(ACTC1):c.-55CCG[3]	ACTC1, GJD2-DT	Microsatellite (5 prime UTR variant)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 315715	NM_005159.5(ACTC1):c.-55C>A	GJD2-DT, ACTC1	Single nucleotide variant (5 prime UTR variant)	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315718	NM_005159.4(ACTC1):c.-101G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315719	NM_005159.4(ACTC1):c.-105C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315720	NM_005159.4(ACTC1):c.-109C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315721	NM_005159.4(ACTC1):c.-175C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315722	NM_005159.4(ACTC1):c.-194C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
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 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 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 43364	NM_000363.5(TNNI3):c.198G>A (p.Glu66=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +10 more	GBenign/Likely benign
Select item 330200	NM_000363.5(TNNI3):c.157C>T (p.Leu53=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
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 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 43361	NM_000363.5(TNNI3):c.12-7del	TNNI3	Deletion (intron variant)	Dilated Cardiomyopathy, Recessive +6 more	GConflicting classifications of pathogenicity
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 330201	NM_000363.5(TNNI3):c.-85A>C	TNNI3	Single nucleotide variant (5 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +4 more	GConflicting classifications of pathogenicity
Select item 330202	NM_000363.5(TNNI3):c.-103C>T	TNNI3	Single nucleotide variant (5 prime UTR variant)	Dilated Cardiomyopathy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 330203	NM_000363.5(TNNI3):c.-133G>T	TNNI3	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 369294	NM_000363.4(TNNI3):c.-148A>G	TNNI3	Single nucleotide variant	Familial restrictive cardiomyopathy +4 more	GLikely benign
Select item 369295	NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met)	DNAAF3, TNNI3 (V516M +3 more)	Single nucleotide variant (missense variant)	Familial restrictive cardiomyopathy +5 more	GBenign/Likely benign
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

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