"SCN5A-related disorder"[Disease/phenotype] AND "Rady Children's Insti - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201596	NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)	SCN5A (R1943* +5 more)	Single nucleotide variant (nonsense)	Cardiac arrhythmia +4 more	GConflicting classifications of pathogenicity
Select item 9369	NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)	SCN5A (R1644H +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GPathogenic
Select item 2584499	NM_000335.5(SCN5A):c.4427A>C (p.Lys1476Thr)	SCN5A (K1423T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 67648	NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys)	SCN5A (N406K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 180520	NM_000335.5(SCN5A):c.1140+1G>A	SCN5A	Single nucleotide variant (splice donor variant)	Brugada syndrome (shorter-than-normal QT interval) +2 more	GPathogenic/Likely pathogenic
Select item 406427	NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter)	SCN5A (E302*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

ClinVar