"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132679	NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)	KCNE1 (T125M)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 666704	NM_000219.6(KCNE1):c.252C>T (p.Ser84=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 163728	NM_000219.6(KCNE1):c.174C>G (p.Thr58=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 1060040	NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe)	KCNE1 (L48F)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 132651	NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly)	KCNE1 (S38G)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +7 more	GBenign
Select item 178611	NM_000219.6(KCNE1):c.84G>A (p.Ser28=)	KCNE1	Single nucleotide variant (synonymous variant)	Jervell and Lange-Nielsen syndrome 2 +5 more	GBenign/Likely benign
Select item 132677	NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)	KCNE1 (T10M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

ClinVar