"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "KCNE1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1120103	NM_000219.6(KCNE1):c.220T>C (p.Ser74Pro)	KCNE1 (S74P)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 132661	NM_000219.6(KCNE1):c.200G>A (p.Arg67His)	KCNE1 (R67H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 132683	NM_000219.6(KCNE1):c.95G>A (p.Arg32His)	KCNE1 (R32H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 132682	NM_000219.6(KCNE1):c.83C>T (p.Ser28Leu)	KCNE1 (S28L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1343372	NM_000219.6(KCNE1):c.20_23dup (p.Val9fs)	KCNE1 (V9fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 504745	NM_000219.6(KCNE1):c.-5C>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity

ClinVar