"Color Diagnostics, LLC DBA Color Health"[submitter] AND "MYL2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 918412	NM_000432.4(MYL2):c.*3G>A	MYL2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 924599	NM_000432.4(MYL2):c.483C>T (p.His161=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 179705	NM_000432.4(MYL2):c.480C>T (p.Thr160=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +3 more	GLikely benign
Select item 921552	NM_000432.4(MYL2):c.475A>G (p.Ile159Val)	MYL2 (I159V)	Single nucleotide variant (missense variant)	Cardiomyopathy +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 925736	NM_000432.4(MYL2):c.472A>G (p.Ile158Val)	MYL2 (I158V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 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)	not provided +5 more	GUncertain significance
Select item 263505	NM_000432.4(MYL2):c.456C>T (p.Tyr152=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 925214	NM_000432.4(MYL2):c.450G>A (p.Leu150=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 925644	NM_000432.4(MYL2):c.449T>C (p.Leu150Ser)	MYL2 (L150S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 43477	NM_000432.4(MYL2):c.447C>T (p.Asn149=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 919726	NM_000432.4(MYL2):c.441_442insTCACT (p.Gly148fs)	MYL2 (G148fs)	Insertion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 920850	NM_000432.4(MYL2):c.438dup (p.Thr147fs)	MYL2 (T147fs)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 520474	NM_000432.4(MYL2):c.436G>A (p.Val146Met)	MYL2 (V146M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +4 more	GUncertain significance
Select item 760038	NM_000432.4(MYL2):c.435C>T (p.Asp145=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 925339	NM_000432.4(MYL2):c.433G>T (p.Asp145Tyr)	MYL2 (D145Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 191733	NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)	MYL2 (D145N)	Single nucleotide variant (missense variant)	not specified +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 858912	NM_000432.4(MYL2):c.431C>A (p.Pro144His)	MYL2 (P144H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 919588	NM_000432.4(MYL2):c.430C>T (p.Pro144Ser)	MYL2 (P144S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 628393	NM_000432.4(MYL2):c.430C>G (p.Pro144Ala)	MYL2 (P144A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 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)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 942919	NM_000432.4(MYL2):c.422C>A (p.Ala141Asp)	MYL2 (A141D)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 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 704190	NM_000432.4(MYL2):c.417C>T (p.Phe139=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 840366	NM_000432.4(MYL2):c.413T>A (p.Met138Lys)	MYL2 (M138K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +3 more	GUncertain significance
Select item 1172368	NM_000432.4(MYL2):c.408C>T (p.Asp136=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 920512	NM_000432.4(MYL2):c.403-6T>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10 +1 more	GConflicting classifications of pathogenicity
Select item 927694	NM_000432.4(MYL2):c.403-8C>T	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 928402	NM_000432.4(MYL2):c.403-11G>A	MYL2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 920074	NM_000432.4(MYL2):c.403-15G>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 237782	NM_000432.4(MYL2):c.402+6G>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10 +2 more	GConflicting classifications of pathogenicity
Select item 920455	NM_000432.4(MYL2):c.402+3A>G	MYL2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 43475	NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)	MYL2 (E134A)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1332604	NM_000432.4(MYL2):c.393C>G (p.Ser131=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1990843	NM_000432.4(MYL2):c.391T>A (p.Ser131Thr)	MYL2 (S131T +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 518927	NM_000432.4(MYL2):c.387G>A (p.Arg129=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2773978	NM_000432.4(MYL2):c.384G>A (p.Glu128=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 36646	NM_000432.4(MYL2):c.381G>A (p.Ala127=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 423350	NM_000432.4(MYL2):c.376C>G (p.Gln126Glu)	MYL2 (Q126E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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)	Cardiomyopathy +5 more	GUncertain significance
Select item 36645	NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)	MYL2 (R120Q)	Single nucleotide variant (missense variant)	not provided +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)	Hypertrophic cardiomyopathy 10 +5 more	GUncertain significance
Select item 43471	NM_000432.4(MYL2):c.358C>T (p.Arg120Trp)	MYL2 (R120W)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 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 918932	NM_000432.4(MYL2):c.354-8C>G	MYL2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 218455	NM_000432.4(MYL2):c.353+6T>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 568234	NM_000432.4(MYL2):c.347C>T (p.Ala116Val)	MYL2 (A116V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 43469	NM_000432.4(MYL2):c.342G>A (p.Leu114=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 922106	NM_000432.4(MYL2):c.341T>G (p.Leu114Arg)	MYL2 (L114R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2773979	NM_000432.4(MYL2):c.337dup (p.Val113fs)	MYL2 (V99fs +2 more)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 1435495	NM_000432.4(MYL2):c.316_319del (p.Phe106fs)	MYL2 (F106fs)	Deletion (frameshift variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 382534	NM_000432.4(MYL2):c.315G>C (p.Val105=)	MYL2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 921813	NM_000432.4(MYL2):c.310A>C (p.Lys104Gln)	MYL2 (K104Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 31770	NM_000432.4(MYL2):c.310A>G (p.Lys104Glu)	MYL2 (K104E)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	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)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1332350	NM_000432.4(MYL2):c.304G>T (p.Ala102Ser)	MYL2 (A102S)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 920497	NM_000432.4(MYL2):c.303C>T (p.Asn101=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 307213	NM_000432.4(MYL2):c.302A>G (p.Asn101Ser)	MYL2 (N101S)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 926068	NM_000432.4(MYL2):c.298C>G (p.Leu100Val)	MYL2 (L100V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
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 923761	NM_000432.4(MYL2):c.275-1G>A	MYL2	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 1332156	NM_000432.4(MYL2):c.275-2A>G	MYL2	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 378218	NM_000432.4(MYL2):c.275-7G>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10 +3 more	GBenign/Likely benign
Select item 668627	NM_000432.4(MYL2):c.275-8C>T	MYL2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 307214	NM_000432.4(MYL2):c.275-12G>A	MYL2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 228933	NM_000432.4(MYL2):c.275-14G>C	MYL2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 181432	NM_000432.4(MYL2):c.257T>C (p.Phe86Ser)	MYL2 (F86S)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 664326	NM_000432.4(MYL2):c.256T>C (p.Phe86Leu)	MYL2 (F86L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +4 more	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 1332579	NM_000432.4(MYL2):c.241G>A (p.Val81Met)	MYL2 (V81M)	Single nucleotide variant (missense variant)	Cardiomyopathy	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 918671	NM_000432.4(MYL2):c.221C>T (p.Pro74Leu)	MYL2 (P74L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 926561	NM_000432.4(MYL2):c.216G>C (p.Glu72Asp)	MYL2 (E72D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
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 927979	NM_000432.4(MYL2):c.206T>C (p.Met69Thr)	MYL2 (M69T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +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 164478	NM_000432.4(MYL2):c.184A>T (p.Lys62Ter)	MYL2 (K62*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 181431	NM_000432.4(MYL2):c.181G>A (p.Val61Met)	MYL2 (V61M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +3 more	GUncertain significance
Select item 924150	NM_000432.4(MYL2):c.176T>A (p.Val59Glu)	MYL2 (V59E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 920627	NM_000432.4(MYL2):c.174A>G (p.Arg58=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 699242	NM_000432.4(MYL2):c.172C>A (p.Arg58=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 43458	NM_000432.4(MYL2):c.170G>A (p.Gly57Glu)	MYL2 (G57E)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 2773980	NM_000432.4(MYL2):c.170-4C>T	MYL2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 511175	NM_000432.4(MYL2):c.170-20GT[3]	MYL2	Microsatellite (intron variant)	not provided +2 more	GLikely benign
Select item 922788	NM_000432.4(MYL2):c.170-14G>C	MYL2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 1332304	NM_000432.4(MYL2):c.161C>T (p.Ala54Val)	MYL2 (A54V)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 629405	NM_000432.4(MYL2):c.156C>A (p.Thr52=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +3 more	GLikely benign
Select item 921647	NM_000432.4(MYL2):c.151G>T (p.Asp51Tyr)	MYL2 (D51Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 415510	NM_000432.4(MYL2):c.147G>A (p.Leu49=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +1 more	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 924037	NM_000432.4(MYL2):c.142G>C (p.Asp48His)	MYL2 (D48H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 654375	NM_000432.4(MYL2):c.142G>A (p.Asp48Asn)	MYL2 (D48N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +3 more	GUncertain significance
Select item 43457	NM_000432.4(MYL2):c.141C>T (p.Asn47=)	MYL2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 31766	NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)	MYL2 (N47K)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy +7 more	GConflicting classifications of pathogenicity

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