"Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Child - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36429	NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)	KCNH2 (R1047L +1 more)	Single nucleotide variant (missense variant)	Sudden unexplained death +7 more	GConflicting classifications of pathogenicity
Select item 218433	NM_000238.4(KCNH2):c.1558-5C>T	KCNH2	Single nucleotide variant (intron variant)	Long QT syndrome 2 +4 more	GBenign/Likely benign
Select item 237289	NM_000238.4(KCNH2):c.1332G>A (p.Glu444=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 67535	NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys)	KCNH2 (E289K +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 200600	NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])	KCNH2	Microsatellite (inframe_indel +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 67508	NM_000238.4(KCNH2):c.491G>A (p.Arg164His)	KCNH2 (R164H +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +4 more	GUncertain significance
Select item 200282	NM_000238.4(KCNH2):c.398T>C (p.Met133Thr)	KCNH2 (M133T +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GUncertain significance

ClinVar