C1865020[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 843735	NM_000238.4(KCNH2):c.3320C>T (p.Ser1107Leu)	KCNH2 (S1107L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 67438	NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala)	KCNH2 (G584A +1 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 67292	NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)	KCNH2 (T273M +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 14420	NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)	KCNH2 (A561V +4 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1 +7 more	GPathogenic/Likely pathogenic
Select item 67509	NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)	KCNH2 (R176W +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 930960	NM_000238.4(KCNH2):c.409A>G (p.Met137Val)	KCNH2 (M137V +3 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 1	GUncertain significance

ClinVar