"Ambry Genetics"[submitter] AND "MYL2"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 123

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1744203	NM_000432.4(MYL2):c.493_495del (p.Lys165del)	MYL2 (K165del +2 more)	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1720074	NM_000432.4(MYL2):c.490G>A (p.Glu164Lys)	MYL2 (E145K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1387688	NM_000432.4(MYL2):c.486A>C (p.Gly162=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 924599	NM_000432.4(MYL2):c.483C>T (p.His161=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 264266	NM_000432.4(MYL2):c.483C>A (p.His161Gln)	MYL2 (H161Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2587157	NM_000432.4(MYL2):c.479C>A (p.Thr160Asn)	MYL2 (T141N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 950065	NM_000432.4(MYL2):c.479C>G (p.Thr160Ser)	MYL2 (T160S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 2279132	NM_000432.4(MYL2):c.476T>G (p.Ile159Ser)	MYL2 (I145S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1742964	NM_000432.4(MYL2):c.476T>C (p.Ile159Thr)	MYL2 (I159T +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 924720	NM_000432.4(MYL2):c.474C>T (p.Ile158=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 660510	NM_000432.4(MYL2):c.469C>T (p.His157Tyr)	MYL2 (H157Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 922438	NM_000432.4(MYL2):c.468G>A (p.Val156=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 1171794	NM_000432.4(MYL2):c.463C>T (p.Leu155=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 43478	NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)	MYL2 (K153N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 263505	NM_000432.4(MYL2):c.456C>T (p.Tyr152=)	MYL2	Single nucleotide variant (synonymous variant)	MYL2-related condition +5 more	GBenign/Likely benign
Select item 1740968	NM_000432.4(MYL2):c.448T>G (p.Leu150Val)	MYL2 (L150V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 464146	NM_000432.4(MYL2):c.444C>T (p.Gly148=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1740546	NM_000432.4(MYL2):c.442G>A (p.Gly148Ser)	MYL2 (G148S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1740221	NM_000432.4(MYL2):c.438G>T (p.Val146=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 520474	NM_000432.4(MYL2):c.436G>A (p.Val146Met)	MYL2 (V146M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 760038	NM_000432.4(MYL2):c.435C>T (p.Asp145=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 191733	NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)	MYL2 (D145N)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 626790	NM_000432.4(MYL2):c.431_432del (p.Pro144fs)	MYL2 (P144fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 191580	NM_000432.4(MYL2):c.431del (p.Pro144fs)	MYL2 (P144fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 628393	NM_000432.4(MYL2):c.430C>G (p.Pro144Ala)	MYL2 (P144A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +3 more	GUncertain significance
Select item 43476	NM_000432.4(MYL2):c.429C>G (p.Pro143=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 177824	NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)	MYL2 (P143L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 1171773	NM_000432.4(MYL2):c.426C>T (p.Phe142=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 1172451	NM_000432.4(MYL2):c.424T>C (p.Phe142Leu)	MYL2 (F142L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 701398	NM_000432.4(MYL2):c.420C>T (p.Ala140=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1172368	NM_000432.4(MYL2):c.408C>T (p.Asp136=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 31768	NM_000432.4(MYL2):c.403-1G>C	MYL2	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 10 +3 more	GConflicting classifications of pathogenicity
Select item 43475	NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)	MYL2 (E134A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 518927	NM_000432.4(MYL2):c.387G>A (p.Arg129=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 36646	NM_000432.4(MYL2):c.381G>A (p.Ala127=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 409235	NM_000432.4(MYL2):c.380C>T (p.Ala127Val)	MYL2 (A127V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1134644	NM_000432.4(MYL2):c.375G>C (p.Thr125=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 464145	NM_000432.4(MYL2):c.375G>A (p.Thr125=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 43473	NM_000432.4(MYL2):c.374C>T (p.Thr125Met)	MYL2 (T125M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 450755	NM_000432.4(MYL2):c.366G>T (p.Met122Ile)	MYL2 (M122I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 36645	NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)	MYL2 (R120Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 181434	NM_000432.4(MYL2):c.358C>G (p.Arg120Gly)	MYL2 (R120G)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 181420	NM_000432.4(MYL2):c.355G>A (p.Val119Ile)	MYL2 (V119I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 880755	NM_000432.4(MYL2):c.354C>T (p.Tyr118=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +2 more	GConflicting classifications of pathogenicity
Select item 3231728	NM_000432.4(MYL2):c.352T>A (p.Tyr118Asn)	MYL2 (Y104N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 568234	NM_000432.4(MYL2):c.347C>T (p.Ala116Val)	MYL2 (A116V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 43469	NM_000432.4(MYL2):c.342G>A (p.Leu114=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 1730597	NM_000432.4(MYL2):c.335G>A (p.Gly112Glu)	MYL2 (G98E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1729834	NM_000432.4(MYL2):c.328G>A (p.Gly110Ser)	MYL2 (G110S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 925597	NM_000432.4(MYL2):c.299_309del (p.Leu100fs)	MYL2 (L100fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 181433	NM_000432.4(MYL2):c.308T>G (p.Phe103Cys)	MYL2 (F103C)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 854824	NM_000432.4(MYL2):c.305C>T (p.Ala102Val)	MYL2 (A102V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 626792	NM_000432.4(MYL2):c.304G>A (p.Ala102Thr)	MYL2 (A102T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 920497	NM_000432.4(MYL2):c.303C>T (p.Asn101=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +3 more	GLikely benign
Select item 2567165	NM_000432.4(MYL2):c.298C>T (p.Leu100Phe)	MYL2 (L81F +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 464143	NM_000432.4(MYL2):c.289G>A (p.Glu97Lys)	MYL2 (E97K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 138399	NM_000432.4(MYL2):c.279G>A (p.Ala93=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1329422	NM_000432.4(MYL2):c.275G>A (p.Gly92Glu)	MYL2 (G92E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 571147	NM_000432.4(MYL2):c.260G>A (p.Gly87Glu)	MYL2 (G87E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 43461	NM_000432.4(MYL2):c.260G>C (p.Gly87Ala)	MYL2 (G87A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1335831	NM_000432.4(MYL2):c.259G>A (p.Gly87Arg)	MYL2 (G87R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 181432	NM_000432.4(MYL2):c.257T>C (p.Phe86Ser)	MYL2 (F86S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 664326	NM_000432.4(MYL2):c.256T>C (p.Phe86Leu)	MYL2 (F86L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 965135	NM_000432.4(MYL2):c.255G>A (p.Met85Ile)	MYL2 (M85I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 644658	NM_000432.4(MYL2):c.253A>G (p.Met85Val)	MYL2 (M85V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 1791890	NM_000432.4(MYL2):c.247C>T (p.Leu83Phe)	MYL2 (L69F +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 43460	NM_000432.4(MYL2):c.243G>T (p.Val81=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 532780	NM_000432.4(MYL2):c.229A>G (p.Ile77Val)	MYL2 (I77V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 378217	NM_000432.4(MYL2):c.222G>A (p.Pro74=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 464142	NM_000432.4(MYL2):c.216G>A (p.Glu72=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2530639	NM_000432.4(MYL2):c.203A>C (p.Glu68Ala)	MYL2 (E49A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 567448	NM_000432.4(MYL2):c.203A>G (p.Glu68Gly)	MYL2 (E68G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 928166	NM_000432.4(MYL2):c.188del (p.Asn63fs)	MYL2 (N63fs)	Deletion (frameshift variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1781466	NM_000432.4(MYL2):c.185A>C (p.Lys62Thr)	MYL2 (K48T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1780550	NM_000432.4(MYL2):c.180C>T (p.Asn60=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 14067	NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)	MYL2 (R58Q)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 699242	NM_000432.4(MYL2):c.172C>A (p.Arg58=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 43458	NM_000432.4(MYL2):c.170G>A (p.Gly57Glu)	MYL2 (G57E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 848858	NM_000432.4(MYL2):c.170-1G>A	MYL2 (G43R)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 177958	NM_000432.4(MYL2):c.163G>T (p.Ala55Ser)	MYL2 (A55S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 629405	NM_000432.4(MYL2):c.156C>A (p.Thr52=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 2452883	NM_000432.4(MYL2):c.144T>C (p.Asp48=)	MYL2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1331986	NM_000432.4(MYL2):c.144T>A (p.Asp48Glu)	MYL2 (D48E)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 43457	NM_000432.4(MYL2):c.141C>T (p.Asn47=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 31766	NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)	MYL2 (N47K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 1625590	NM_000432.4(MYL2):c.138G>A (p.Lys46=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 31771	NM_000432.4(MYL2):c.132T>C (p.Ile44=)	MYL2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 217490	NM_000432.4(MYL2):c.125G>A (p.Gly42Asp)	MYL2 (G42D)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 164481	NM_000432.4(MYL2):c.119G>A (p.Arg40Lys)	MYL2 (R40K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1727858	NM_000432.4(MYL2):c.112C>A (p.Gln38Lys)	MYL2 (Q38K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 181428	NM_000432.4(MYL2):c.103A>G (p.Ile35Val)	MYL2 (I35V)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 181427	NM_000432.4(MYL2):c.97T>C (p.Phe33Leu)	MYL2 (F33L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 919586	NM_000432.4(MYL2):c.93+5G>A	MYL2, LOC114827850	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2447209	NM_000432.4(MYL2):c.83_93+1del	LOC114827850, MYL2	Deletion (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 626524	NM_000432.4(MYL2):c.92_93+1del	MYL2, LOC114827850	Microsatellite (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3231730	NM_000432.4(MYL2):c.73C>G (p.Gln25Glu)	LOC114827850, MYL2 (Q25E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1111589	NM_000432.4(MYL2):c.72C>G (p.Thr24=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 181426	NM_000432.4(MYL2):c.64G>T (p.Glu22Ter)	LOC114827850, MYL2 (E22*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 14065	NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	LOC114827850, MYL2 (E22K)	Single nucleotide variant (missense variant)	MYL2-related condition +5 more	GPathogenic/Likely pathogenic
Select item 626526	NM_000432.4(MYL2):c.63C>T (p.Phe21=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign

<< First< Prev

Page of 2