"Eurofins Ntd Llc (ga)"[submitter] AND "CASQ2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44157	NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 179599	NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)	CASQ2	Microsatellite (inframe_insertion)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 502421	NM_001232.4(CASQ2):c.738-11_738-5del	CASQ2	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 35772	NM_001232.4(CASQ2):c.731A>G (p.His244Arg)	CASQ2 (H244R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign/Likely benign
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 44161	NM_001232.4(CASQ2):c.198G>A (p.Thr66=)	CASQ2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity

ClinVar