"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC105372791"[gen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 339713	NM_172201.2(KCNE2):c.-121C>T	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	Familial atrial fibrillation +4 more	GUncertain significance
Select item 190793	NM_172201.2(KCNE2):c.-13+5G>A	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 4 +3 more	GUncertain significance
Select item 659161	NM_172201.2(KCNE2):c.2T>C (p.Met1Thr)	KCNE2, LOC105372791 (M1T)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 1217300	NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)	KCNE2, LOC105372791 (S5P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +2 more	GUncertain significance
Select item 895204	NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser)	KCNE2, LOC105372791 (N6S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 560697	NM_172201.2(KCNE2):c.67A>T (p.Met23Leu)	KCNE2, LOC105372791 (M23L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +3 more	GUncertain significance
Select item 1475863	NM_172201.2(KCNE2):c.144dup (p.Val49fs)	KCNE2, LOC105372791 (V49fs)	Duplication (frameshift variant)	Atrial fibrillation, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 67612	NM_172201.2(KCNE2):c.193G>C (p.Val65Leu)	LOC105372791, KCNE2 (V65L)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 538876	NM_172201.2(KCNE2):c.204G>A (p.Leu68=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1107314	NM_172201.2(KCNE2):c.228A>G (p.Arg76=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +2 more	GLikely benign
Select item 67614	NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)	KCNE2, LOC105372791 (R77W)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +4 more	GConflicting classifications of pathogenicity
Select item 956020	NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser)	LOC105372791, KCNE2 (N81S)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +2 more	GUncertain significance
Select item 1390131	NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr)	KCNE2, LOC105372791 (A116T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 190797	NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)	KCNE2, LOC105372791	Deletion (frameshift variant)	Long QT syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 899357	NM_172201.2(KCNE2):c.*234G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 6 +1 more	GUncertain significance