Related gene-specific medical variations for Gene (Select 845) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247740	NC_000001.10:g.(?_116287429)_(116287553_?)del	CASQ2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 3247739	NC_000001.10:g.(?_116243862)_(116244067_?)del	CASQ2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
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 1324014	NM_001232.4(CASQ2):c.319+1G>A	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GLikely pathogenic
Select item 688132	GRCh37/hg19 1p13.1(chr1:116245898-116288841)x3	CASQ2	Copy number gain	not provided	GUncertain significance
Select item 41042	NM_001232.4(CASQ2):c.62del (p.Glu21fs)	CASQ2 (E21fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GPathogenic

ClinVar