"Center for Human Genetics, University of Leuven"[submitter] AND "RYR2 - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 427953	NM_001035.3(RYR2):c.1392C>A (p.His464Gln)	RYR2 (H464Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 201225	NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser)	RYR2 (N658S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 532370	NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)	RYR2 (T858M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GConflicting classifications of pathogenicity
Select item 201243	NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys)	LOC126806067, RYR2 (Y1337C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 427954	NM_001035.3(RYR2):c.4186G>A (p.Asp1396Asn)	RYR2 (D1396N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 580627	NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)	RYR2 (R1463C)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +5 more	GConflicting classifications of pathogenicity
Select item 619280	NM_001035.3(RYR2):c.11230del (p.Ile3744fs)	RYR2 (I3744fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 427948	NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr)	RYR2 (M3999T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GLikely pathogenic
Select item 619281	NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn)	LOC126806068, RYR2 (D4365N)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 427951	NM_001035.3(RYR2):c.14650A>G (p.Met4884Val)	RYR2 (M4884V)	Single nucleotide variant (missense variant)	Sudden cardiac death	GUncertain significance