C3150943[trait identifier] AND "Human Genome Sequencing Center Clinica - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 979134	NM_000238.4(KCNH2):c.2870C>T (p.Pro957Leu)	KCNH2 (P617L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GUncertain significance
Select item 979128	NM_000238.4(KCNH2):c.2332G>A (p.Ala778Thr)	KCNH2 (A438T +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +2 more	GUncertain significance
Select item 979129	NM_000238.4(KCNH2):c.2054G>A (p.Arg685His)	KCNH2 (R345H +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +2 more	GUncertain significance
Select item 222669	NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)	KCNH2 (V290I +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 67225	NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)	KCNH2 (L212S +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 14430	NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)	KCNH2 (A490T +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +3 more	GPathogenic/Likely pathogenic
Select item 585220	NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr)	KCNH2 (I82T +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 67368	NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)	KCNH2 (P72Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GPathogenic/Likely pathogenic

ClinVar