"Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Child - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201209	NM_001035.3(RYR2):c.1144G>A (p.Val382Met)	RYR2 (V382M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 252508	NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys)	RYR2 (R1089C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 36746	NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)	RYR2 (G1885E)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 252509	NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser)	RYR2 (P2078S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 43840	NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg)	RYR2 (K3187R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 43698	NM_001035.3(RYR2):c.10324-4A>G	RYR2	Single nucleotide variant (intron variant)	RYR2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 252507	NM_001035.3(RYR2):c.10844G>A (p.Arg3615Gln)	RYR2 (R3615Q)	Single nucleotide variant (missense variant)	RYR2-related condition +2 more	GUncertain significance
Select item 420230	NM_001035.3(RYR2):c.13476+8_13476+11dup	RYR2	Duplication (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 218487	NM_001035.3(RYR2):c.13564-41A>G	RYR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign