"Center for Medical Genetics Ghent, University of Ghent"[submitter] AN - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201194	NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	RYR2 (R176Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic
Select item 254161	NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys)	RYR2 (Q3230K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 254160	NM_001035.3(RYR2):c.13737C>A (p.His4579Gln)	RYR2 (H4579Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic

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