"GeneDx"[submitter] AND "MYL2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1246380	NM_000432.4(MYL2):c.*127C>T	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224073	NM_000432.4(MYL2):c.*117A>C	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 307211	NM_000432.4(MYL2):c.*102C>A	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1266458	NM_000432.4(MYL2):c.*53C>G	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1271053	NM_000432.4(MYL2):c.*29C>T	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1222563	NM_000432.4(MYL2):c.*18C>G	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 36647	NM_000432.4(MYL2):c.*10C>T	MYL2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 10 +2 more	GConflicting classifications of pathogenicity
Select item 1214461	NM_000432.4(MYL2):c.*9T>C	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1023822	NM_000432.4(MYL2):c.496G>A (p.Asp166Asn)	MYL2 (D166N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 181436	NM_000432.4(MYL2):c.496G>T (p.Asp166Tyr)	MYL2 (D166Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 181421	NM_000432.4(MYL2):c.488A>G (p.Glu163Gly)	MYL2 (E163G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GConflicting classifications of pathogenicity
Select item 132976	NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)	MYL2 (G162R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 950065	NM_000432.4(MYL2):c.479C>G (p.Thr160Ser)	MYL2 (T160S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 181435	NM_000432.4(MYL2):c.470A>G (p.His157Arg)	MYL2 (H157R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 660510	NM_000432.4(MYL2):c.469C>T (p.His157Tyr)	MYL2 (H157Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 43478	NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)	MYL2 (K153N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 263505	NM_000432.4(MYL2):c.456C>T (p.Tyr152=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 2442433	NM_000432.4(MYL2):c.455A>G (p.Tyr152Cys)	MYL2 (Y133C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581773	NM_000432.4(MYL2):c.454T>C (p.Tyr152His)	MYL2 (Y133H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 837678	NM_000432.4(MYL2):c.431C>G (p.Pro144Arg)	MYL2 (P144R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 919588	NM_000432.4(MYL2):c.430C>T (p.Pro144Ser)	MYL2 (P144S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +3 more	GUncertain significance
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 178948	NM_000432.4(MYL2):c.421G>A (p.Ala141Thr)	MYL2 (A141T)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 840366	NM_000432.4(MYL2):c.413T>A (p.Met138Lys)	MYL2 (M138K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
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 1265227	NM_000432.4(MYL2):c.403-96del	MYL2	Deletion (intron variant)	not provided	GBenign
Select item 1270702	NM_000432.4(MYL2):c.403-244T>C	MYL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259772	NM_000432.4(MYL2):c.402+245T>C	MYL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265363	NM_000432.4(MYL2):c.402+129G>A	MYL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671322	NM_000432.4(MYL2):c.402+93C>T	MYL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506760	NM_000432.4(MYL2):c.402+17A>G	MYL2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 489183	NM_000432.4(MYL2):c.402+1G>T	MYL2	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 36646	NM_000432.4(MYL2):c.381G>A (p.Ala127=)	MYL2	Single nucleotide variant (synonymous variant)	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)	Cardiovascular phenotype +3 more	GUncertain significance
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 43473	NM_000432.4(MYL2):c.374C>T (p.Thr125Met)	MYL2 (T125M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +5 more	GUncertain significance
Select item 450755	NM_000432.4(MYL2):c.366G>T (p.Met122Ile)	MYL2 (M122I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 181420	NM_000432.4(MYL2):c.355G>A (p.Val119Ile)	MYL2 (V119I)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 664348	NM_000432.4(MYL2):c.354-3C>G	MYL2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1291279	NM_000432.4(MYL2):c.354-6C>G	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 1276106	NM_000432.4(MYL2):c.354-18G>A	MYL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 671321	NM_000432.4(MYL2):c.353+51C>A	MYL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 31774	NM_000432.4(MYL2):c.353+51C>T	MYL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673557	NM_000432.4(MYL2):c.353+47del	MYL2	Deletion (intron variant)	not provided	GBenign
Select item 31775	NM_000432.4(MYL2):c.353+46dup	MYL2	Duplication (intron variant)	not specified +1 more	GBenign
Select item 31772	NM_000432.4(MYL2):c.353+20del	MYL2	Deletion (intron variant)	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy +4 more	GBenign
Select item 43470	NM_000432.4(MYL2):c.353+12C>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10 +2 more	GBenign/Likely benign
Select item 568234	NM_000432.4(MYL2):c.347C>T (p.Ala116Val)	MYL2 (A116V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +4 more	GUncertain significance
Select item 43469	NM_000432.4(MYL2):c.342G>A (p.Leu114=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GBenign/Likely benign
Select item 382534	NM_000432.4(MYL2):c.315G>C (p.Val105=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
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 626792	NM_000432.4(MYL2):c.304G>A (p.Ala102Thr)	MYL2 (A102T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 510419	NM_000432.4(MYL2):c.294C>T (p.Thr98=)	MYL2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 489317	NM_000432.4(MYL2):c.289G>T (p.Glu97Ter)	MYL2 (E97*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 138399	NM_000432.4(MYL2):c.279G>A (p.Ala93=)	MYL2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 858021	NM_000432.4(MYL2):c.278C>A (p.Ala93Glu)	MYL2 (A93E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 378218	NM_000432.4(MYL2):c.275-7G>A	MYL2	Single nucleotide variant (intron variant)	not specified +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)	Hypertrophic cardiomyopathy 10 +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 671320	NM_000432.4(MYL2):c.275-76A>C	MYL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683982	NM_000432.4(MYL2):c.274+339C>T	MYL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241853	NM_000432.4(MYL2):c.274+59del	MYL2	Deletion (intron variant)	not provided	GBenign
Select item 1178606	NM_000432.4(MYL2):c.274+53G>A	MYL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270328	NM_000432.4(MYL2):c.274+27del	MYL2	Deletion (intron variant)	not provided	GBenign
Select item 43462	NM_000432.4(MYL2):c.274+9GT[10]	MYL2	Microsatellite (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1291278	NM_000432.4(MYL2):c.274+25_274+26insGT	MYL2	Insertion (intron variant)	not provided	GBenign
Select item 1278892	NM_000432.4(MYL2):c.274+9GT[8]	MYL2	Microsatellite (intron variant)	Cardiomyopathy +1 more	GBenign
Select item 181419	NM_000432.4(MYL2):c.274+16_274+17insTC	MYL2	Insertion (intron variant)	not provided +2 more	GBenign
Select item 138398	NM_000432.4(MYL2):c.274+17G>C	MYL2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1241206	NM_000432.4(MYL2):c.274+15del	MYL2	Deletion (intron variant)	not provided	GBenign
Select item 138397	NM_000432.4(MYL2):c.274+15G>C	MYL2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1233784	NM_000432.4(MYL2):c.274+10del	MYL2	Deletion (intron variant)	not provided	GBenign
Select item 181418	NM_000432.4(MYL2):c.274+9del	MYL2	Deletion (intron variant)	Cardiomyopathy	GBenign
Select item 1249074	NM_000432.4(MYL2):c.274+8del	MYL2	Deletion (intron variant)	not provided	GBenign
Select item 43463	NM_000432.4(MYL2):c.274+8C>T	MYL2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 571147	NM_000432.4(MYL2):c.260G>A (p.Gly87Glu)	MYL2 (G87E)	Single nucleotide variant (missense variant)	not provided +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)	not provided +2 more	GUncertain significance
Select item 181432	NM_000432.4(MYL2):c.257T>C (p.Phe86Ser)	MYL2 (F86S)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 43460	NM_000432.4(MYL2):c.243G>T (p.Val81=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 1051071	NM_000432.4(MYL2):c.232A>G (p.Asn78Asp)	MYL2 (N78D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372493	NM_000432.4(MYL2):c.227C>T (p.Pro76Leu)	MYL2 (P57L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378217	NM_000432.4(MYL2):c.222G>A (p.Pro74=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +4 more	GLikely benign
Select item 1320337	NM_000432.4(MYL2):c.220C>T (p.Pro74Ser)	MYL2 (P74S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1320882	NM_000432.4(MYL2):c.217del (p.Ala73fs)	MYL2 (A73fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 43459	NM_000432.4(MYL2):c.193G>A (p.Glu65Lys)	MYL2 (E65K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GConflicting classifications of pathogenicity
Select item 928166	NM_000432.4(MYL2):c.188del (p.Asn63fs)	MYL2 (N63fs)	Deletion (frameshift variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 164478	NM_000432.4(MYL2):c.184A>T (p.Lys62Ter)	MYL2 (K62*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 10 +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)	not provided +3 more	GUncertain significance
Select item 532778	NM_000432.4(MYL2):c.173G>T (p.Arg58Leu)	MYL2 (R58L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GLikely pathogenic
Select item 14067	NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)	MYL2 (R58Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic
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 511175	NM_000432.4(MYL2):c.170-20GT[3]	MYL2	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 10 +2 more	GLikely benign
Select item 36643	NM_000432.4(MYL2):c.170-19T>C	MYL2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 674683	NM_000432.4(MYL2):c.170-54T>C	MYL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675462	NM_000432.4(MYL2):c.170-153A>G	MYL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228727	NM_000432.4(MYL2):c.170-160C>G	MYL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270512	NM_000432.4(MYL2):c.169+198del	MYL2	Deletion (intron variant)	not provided	GBenign
Select item 177958	NM_000432.4(MYL2):c.163G>T (p.Ala55Ser)	MYL2 (A55S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +3 more	GConflicting classifications of pathogenicity

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