C0042514[trait identifier] AND "Cardiovascular Biomedical Research Uni - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36765	NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)	SCN5A (V1950L +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +13 more	GBenign/Likely benign
Select item 67804	NM_000335.5(SCN5A):c.3581G>A (p.Arg1194His)	SCN5A (R1194H +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 48295	NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)	SCN5A (V924I)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 36767	NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)	SCN5A (S216L)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 3 +13 more	GConflicting classifications of pathogenicity
Select item 67568	NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)	KCNJ2 (R82W)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +3 more	GPathogenic
Select item 67570	NM_000891.3(KCNJ2):c.301T>C (p.Cys101Arg)	KCNJ2 (C101R)	Single nucleotide variant (missense variant)	Ventricular tachycardia	Gnot provided
Select item 67586	NM_000891.3(KCNJ2):c.679G>T (p.Val227Phe)	KCNJ2 (V227F)	Single nucleotide variant (missense variant)	Ventricular tachycardia	Gnot provided

ClinVar