C2676723[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 895258	NM_000219.6(KCNE1):c.*2475A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +1 more	GUncertain significance
Select item 339724	NM_000219.6(KCNE1):c.*2413T>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339726	NM_000219.6(KCNE1):c.*2320G>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 897146	NM_000219.6(KCNE1):c.*2298C>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 339736	NM_000219.6(KCNE1):c.*1859G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339741	NM_000219.6(KCNE1):c.*1701A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339743	NM_000219.6(KCNE1):c.*1583A>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 898399	NM_000219.6(KCNE1):c.*1542G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 339747	NM_000219.6(KCNE1):c.*1447C>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 897296	NM_000219.6(KCNE1):c.*960C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 339763	NM_000219.6(KCNE1):c.*457G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 132678	NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)	KCNE1 (V109I)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 228764	NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln)	KCNE1 (R98Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 132673	NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)	KCNE1 (E83K)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1589278	NM_000219.6(KCNE1):c.246C>T (p.Ile82=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 228762	NM_000219.6(KCNE1):c.238G>A (p.Val80Ile)	KCNE1 (V80I)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1462525	NM_000219.6(KCNE1):c.236A>G (p.Asn79Ser)	KCNE1 (N79S)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +2 more	GUncertain significance
Select item 13478	NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)	KCNE1 (S74L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 568509	NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln)	KCNE1 (K70Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 132661	NM_000219.6(KCNE1):c.200G>A (p.Arg67His)	KCNE1 (R67H)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 1193618	NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser)	KCNE1 (R67S)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 644369	NM_000219.6(KCNE1):c.199C>G (p.Arg67Gly)	KCNE1 (R67G)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +2 more	GUncertain significance
Select item 1427894	NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile)	KCNE1 (S64I)	Single nucleotide variant (missense variant)	Long QT syndrome 5 +3 more	GUncertain significance
Select item 13475	NG_009091.1(KCNE1):g.[66853A>C;66857T>C]	KCNE1	Indel (missense variant)	not provided +3 more	GLikely pathogenic
Select item 132657	NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser)	KCNE1 (G55S)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 1060040	NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe)	KCNE1 (L48F)	Single nucleotide variant (missense variant)	Long QT syndrome 5 +4 more	GUncertain significance
Select item 963591	NM_000219.6(KCNE1):c.120C>T (p.Gly40=)	KCNE1	Single nucleotide variant (synonymous variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 456874	NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)	KCNE1 (S38G)	Inversion (missense variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 289867	NM_000219.6(KCNE1):c.108_109delinsGG (p.Ser37Gly)	KCNE1 (S37G)	Indel (missense variant)	not provided +4 more	GUncertain significance
Select item 191465	NM_000219.6(KCNE1):c.109A>G (p.Ser37Gly)	KCNE1 (S37G)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +2 more	GUncertain significance
Select item 132683	NM_000219.6(KCNE1):c.95G>A (p.Arg32His)	KCNE1 (R32H)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +5 more	GUncertain significance
Select item 178611	NM_000219.6(KCNE1):c.84G>A (p.Ser28=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 132682	NM_000219.6(KCNE1):c.83C>T (p.Ser28Leu)	KCNE1 (S28L)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 1056763	NM_000219.6(KCNE1):c.80T>C (p.Met27Thr)	KCNE1 (M27T)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 132670	NM_000219.6(KCNE1):c.23C>T (p.Ala8Val)	KCNE1 (A8V)	Single nucleotide variant (missense variant)	Long QT syndrome 5 +4 more	GUncertain significance
Select item 430060	NM_000219.6(KCNE1):c.12dup (p.Asn5Ter)	KCNE1 (N5*)	Duplication (nonsense)	Jervell and Lange-Nielsen syndrome 2 +4 more	GPathogenic
Select item 897027	NM_000219.6(KCNE1):c.-334G>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 339788	NM_000219.6(KCNE1):c.-530G>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38