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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373555	NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)	LOC126861896, MYH6 (V1693M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +7 more	GConflicting classifications of pathogenicity
Select item 407143	NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)	LOC126861896, MYH6 (R1664H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +7 more	GConflicting classifications of pathogenicity
Select item 44529	NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1588850	NM_002471.4(MYH6):c.4983T>C (p.Asp1661=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 179576	NM_002471.4(MYH6):c.4960-9G>A	MYH6, LOC126861896	Single nucleotide variant (intron variant)	not provided +7 more	GBenign
Select item 44524	NM_002471.4(MYH6):c.4899C>T (p.His1633=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 44521	NM_002471.4(MYH6):c.4782G>A (p.Arg1594=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 312850	NM_002471.4(MYH6):c.4695A>G (p.Leu1565=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GLikely benign
Select item 915791	NM_002471.4(MYH6):c.4683C>T (p.Leu1561=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign/Likely benign
Select item 681096	NM_002471.4(MYH6):c.4665C>T (p.His1555=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 452694	NM_002471.4(MYH6):c.4665C>A (p.His1555Gln)	LOC126861896, MYH6 (H1555Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance