"Revvity Omics, Revvity"[submitter] AND "CASQ2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191439	NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)	CASQ2 (D396N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +5 more	GUncertain significance
Select item 1040687	NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys)	CASQ2 (E363K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 518768	NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn)	CASQ2 (D300N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1024721	NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys)	CASQ2 (Y217C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2438853	NM_001232.4(CASQ2):c.607-1G>A	CASQ2	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GLikely pathogenic
Select item 162814	NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	CASQ2 (F189L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GConflicting classifications of pathogenicity
Select item 1324014	NM_001232.4(CASQ2):c.319+1G>A	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GLikely pathogenic

ClinVar