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

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 532318	NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)	LOC126806067, RYR2 (S1295G)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 138943	NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 632975	NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)	LOC126806067, RYR2 (G1324A)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 707295	NM_001035.3(RYR2):c.4101A>G (p.Lys1367=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign

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