C5574922[trait identifier] AND "Center for Human Genetics, University - ClinVar

	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 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 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 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 181052	NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp)	MYBPC3 (R281W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance

ClinVar