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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)	Hypertrophic cardiomyopathy 10 +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 922438	NM_000432.4(MYL2):c.468G>A (p.Val156=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +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)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 3072482	NM_000432.4(MYL2):c.457A>G (p.Lys153Glu)	MYL2 (K134E +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	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 925214	NM_000432.4(MYL2):c.450G>A (p.Leu150=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 43477	NM_000432.4(MYL2):c.447C>T (p.Asn149=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +3 more	GLikely benign
Select item 3071523	NM_000432.4(MYL2):c.437T>C (p.Val146Ala)	MYL2 (V127A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 520474	NM_000432.4(MYL2):c.436G>A (p.Val146Met)	MYL2 (V146M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 760038	NM_000432.4(MYL2):c.435C>T (p.Asp145=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +3 more	GLikely benign
Select item 626789	NM_000432.4(MYL2):c.435C>G (p.Asp145Glu)	MYL2 (D145E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	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 2172098	NM_000432.4(MYL2):c.431C>T (p.Pro144Leu)	MYL2 (P130L +2 more)	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)	Hypertrophic cardiomyopathy 10 +3 more	GUncertain significance
Select item 628393	NM_000432.4(MYL2):c.430C>G (p.Pro144Ala)	MYL2 (P144A)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 409234	NM_000432.4(MYL2):c.430C>A (p.Pro144Thr)	MYL2 (P144T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 177824	NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)	MYL2 (P143L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +4 more	GUncertain significance
Select item 3069735	NM_000432.4(MYL2):c.425_426insTGGTCAACA (p.Phe142_Pro143insGlyGlnHis)	MYL2	Insertion (inframe_insertion +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1390290	NM_000432.4(MYL2):c.425T>C (p.Phe142Ser)	MYL2 (F142S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2078669	NM_000432.4(MYL2):c.424T>A (p.Phe142Ile)	MYL2 (F123I +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 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 701398	NM_000432.4(MYL2):c.420C>T (p.Ala140=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 3072282	NM_000432.4(MYL2):c.419C>A (p.Ala140Asp)	MYL2 (A121D +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 532774	NM_000432.4(MYL2):c.418G>A (p.Ala140Thr)	MYL2 (A140T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GConflicting classifications of pathogenicity
Select item 704190	NM_000432.4(MYL2):c.417C>T (p.Phe139=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic 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 +3 more	GUncertain significance
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 3070394	NM_000432.4(MYL2):c.406G>A (p.Asp136Asn)	MYL2 (D117N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2148683	NM_000432.4(MYL2):c.403-1G>A	MYL2	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 10 +1 more	GConflicting classifications of pathogenicity
Select item 2972663	NM_000432.4(MYL2):c.403-3C>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 219525	NM_000432.4(MYL2):c.403-4G>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 3069926	NM_000432.4(MYL2):c.402+5T>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 920455	NM_000432.4(MYL2):c.402+3A>G	MYL2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 3070934	NM_000432.4(MYL2):c.402+1G>A	MYL2	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	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 3069966	NM_000432.4(MYL2):c.395A>T (p.Lys132Met)	MYL2 (K113M +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 518927	NM_000432.4(MYL2):c.387G>A (p.Arg129=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +3 more	GLikely benign
Select item 3075412	NM_000432.4(MYL2):c.381G>T (p.Ala127=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
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 1297593	NM_000432.4(MYL2):c.376C>T (p.Gln126Ter)	MYL2 (Q126*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 464145	NM_000432.4(MYL2):c.375G>A (p.Thr125=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
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 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)	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy +5 more	GUncertain significance
Select item 43471	NM_000432.4(MYL2):c.358C>T (p.Arg120Trp)	MYL2 (R120W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 3073520	NM_000432.4(MYL2):c.357del (p.Arg120fs)	MYL2 (R101fs +2 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075161	NM_000432.4(MYL2):c.354-7T>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3071872	NM_000432.4(MYL2):c.354-7del	MYL2	Deletion (intron variant)	Hypertrophic cardiomyopathy	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)	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 43465	NM_000432.4(MYL2):c.313G>A (p.Val105Met)	MYL2 (V105M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 3073339	NM_000432.4(MYL2):c.311A>G (p.Lys104Arg)	MYL2 (K104R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	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 3070791	NM_000432.4(MYL2):c.306A>G (p.Ala102=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
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 926068	NM_000432.4(MYL2):c.298C>G (p.Leu100Val)	MYL2 (L100V)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 14066	NM_000432.4(MYL2):c.283C>G (p.Pro95Ala)	MYL2 (P95A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
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 3073539	NM_000432.4(MYL2):c.276A>G (p.Gly92=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
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 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 3069991	NM_000432.4(MYL2):c.275-14G>A	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072352	NM_000432.4(MYL2):c.261G>A (p.Gly87=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
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 664326	NM_000432.4(MYL2):c.256T>C (p.Phe86Leu)	MYL2 (F86L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 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 3075562	NM_000432.4(MYL2):c.240T>A (p.Thr80=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GUncertain significance
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 3071264	NM_000432.4(MYL2):c.224G>A (p.Gly75Asp)	MYL2 (G56D +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070367	NM_000432.4(MYL2):c.224del (p.Gly75fs)	MYL2 (G56fs +2 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2990885	NM_000432.4(MYL2):c.222G>T (p.Pro74=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
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 1982586	NM_000432.4(MYL2):c.221C>G (p.Pro74Arg)	MYL2 (P60R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 918671	NM_000432.4(MYL2):c.221C>T (p.Pro74Leu)	MYL2 (P74L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
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 567448	NM_000432.4(MYL2):c.203A>G (p.Glu68Gly)	MYL2 (E68G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +3 more	GUncertain significance
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 3070612	NM_000432.4(MYL2):c.176T>C (p.Val59Ala)	MYL2 (V40A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1405120	NM_000432.4(MYL2):c.172C>T (p.Arg58Ter)	MYL2 (R58*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 699242	NM_000432.4(MYL2):c.172C>A (p.Arg58=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3072818	NM_000432.4(MYL2):c.170-3T>C	MYL2 (L42P)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
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
Select item 1332304	NM_000432.4(MYL2):c.161C>T (p.Ala54Val)	MYL2 (A54V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
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 3075563	NM_000432.4(MYL2):c.145C>G (p.Leu49Val)	MYL2 (L30V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 654375	NM_000432.4(MYL2):c.142G>A (p.Asp48Asn)	MYL2 (D48N)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 43457	NM_000432.4(MYL2):c.141C>T (p.Asn47=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 31766	NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)	MYL2 (N47K)	Single nucleotide variant (missense variant)	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)	Cardiovascular phenotype +2 more	GLikely benign

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