"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 915702	NM_033118.4(MYLK2):c.-3C>T	MYLK2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 46526	NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)	MYLK2 (A2T)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 46516	NM_033118.4(MYLK2):c.102A>G (p.Lys34=)	MYLK2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 626560	NM_033118.4(MYLK2):c.167C>T (p.Ala56Val)	MYLK2 (A56V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 46522	NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)	MYLK2 (A58D)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 626845	NM_033118.4(MYLK2):c.261G>A (p.Ala87=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 46523	NM_033118.4(MYLK2):c.266G>A (p.Gly89Asp)	MYLK2 (G89D)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 4244	NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)	MYLK2 (A95E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 626846	NM_033118.4(MYLK2):c.309A>T (p.Thr103=)	MYLK2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 626847	NM_033118.4(MYLK2):c.364G>C (p.Asp122His)	MYLK2 (D122H)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 626848	NM_033118.4(MYLK2):c.402G>T (p.Glu134Asp)	MYLK2 (E134D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 650441	NM_033118.4(MYLK2):c.425G>T (p.Gly142Val)	MYLK2 (G142V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 36652	NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala)	MYLK2 (P144A)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 164499	NM_033118.4(MYLK2):c.463A>T (p.Ile155Phe)	MYLK2 (I155F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +2 more	GUncertain significance
Select item 178088	NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys)	MYLK2 (E170K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 164501	NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn)	MYLK2 (T175N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +3 more	GConflicting classifications of pathogenicity
Select item 46527	NM_033118.4(MYLK2):c.549C>T (p.His183=)	MYLK2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 46529	NM_033118.4(MYLK2):c.783G>A (p.Pro261=)	MYLK2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 191740	NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)	MYLK2 (N278K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GConflicting classifications of pathogenicity
Select item 1131734	NM_033118.4(MYLK2):c.987G>A (p.Leu329=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +2 more	GLikely benign
Select item 46517	NM_033118.4(MYLK2):c.1068C>T (p.Val356=)	MYLK2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 626849	NM_033118.4(MYLK2):c.1086C>T (p.Ile362=)	MYLK2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 626850	NM_033118.4(MYLK2):c.1137C>T (p.Thr379=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 164506	NM_033118.4(MYLK2):c.1176C>T (p.Asp392=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +3 more	GBenign/Likely benign
Select item 626851	NM_033118.4(MYLK2):c.1183C>T (p.Leu395Phe)	MYLK2 (L395F)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 164507	NM_033118.4(MYLK2):c.1224+8A>C	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +3 more	GBenign/Likely benign
Select item 178090	NM_033118.4(MYLK2):c.1295+4C>A	MYLK2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 178091	NM_033118.4(MYLK2):c.1458T>C (p.Asp486=)	MYLK2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 915745	NM_033118.4(MYLK2):c.1564G>A (p.Val522Ile)	MYLK2 (V522I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 473044	NM_033118.4(MYLK2):c.1590C>T (p.Asn530=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 639939	NM_033118.4(MYLK2):c.1613C>T (p.Pro538Leu)	MYLK2 (P538L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 580295	NM_033118.4(MYLK2):c.1626C>A (p.Asn542Lys)	MYLK2 (N542K)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 164511	NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr)	MYLK2 (M565T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 177964	NM_033118.4(MYLK2):c.1711-6C>T	MYLK2	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GBenign
Select item 46521	NM_033118.4(MYLK2):c.1711-4C>T	MYLK2	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity

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Items: 35