ClinVar for PubMed (Select 16432067) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2084567	NM_000238.4(KCNH2):c.1840G>A (p.Ala614Thr)	KCNH2 (A274T +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1479255	NM_000238.4(KCNH2):c.1840G>T (p.Ala614Ser)	KCNH2 (A274S +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1381035	NM_000238.4(KCNH2):c.1684C>A (p.His562Asn)	KCNH2 (H222N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 570494	NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla)	KCNH2	Indel (inframe_indel)	Long QT syndrome	GPathogenic
Select item 418246	NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln)	KCNH2 (R483Q +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 222669	NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)	KCNH2 (V290I +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 200733	NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr)	KCNH2 (H222Y +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 200728	NM_000238.4(KCNH2):c.1600C>A (p.Arg534Ser)	KCNH2 (R194S +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 67552	NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)	KCNH2 (R328C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 67546	NM_000238.4(KCNH2):c.92T>G (p.Ile31Ser)	KCNH2 (I31S)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 67436	NM_000238.4(KCNH2):c.2765G>A (p.Arg922Gln)	KCNH2 (R582Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 67435	NM_000238.4(KCNH2):c.2764C>T (p.Arg922Trp)	KCNH2 (R582W +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 67402	NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)	KCNH2 (R483W +1 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +2 more	GPathogenic/Likely pathogenic
Select item 67397	NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)	KCNH2 (F465C +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 67379	NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)	KCNH2 (R412W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 67334	NM_000238.4(KCNH2):c.1918T>G (p.Phe640Val)	KCNH2 (F300V +4 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 67319	NM_000238.4(KCNH2):c.1889T>C (p.Val630Ala)	KCNH2 (V290A +4 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 67318	NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu)	KCNH2 (V290L +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 67317	NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys)	KCNH2 (N289K +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely pathogenic
Select item 67315	NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)	KCNH2 (N289S +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 67313	NM_000238.4(KCNH2):c.1885A>G (p.Asn629Asp)	KCNH2 (N289D +4 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 67302	NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile)	KCNH2 (T283I +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely pathogenic
Select item 67291	NM_000238.4(KCNH2):c.1834G>T (p.Val612Leu)	KCNH2 (V272L +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 67279	NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)	KCNH2 (G261S +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 67275	NM_000238.4(KCNH2):c.1787C>G (p.Pro596Arg)	KCNH2 (P256R +4 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 67248	NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)	KCNH2 (G232S +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2 +3 more	GPathogenic
Select item 67246	NM_000238.4(KCNH2):c.1711A>C (p.Ile571Leu)	KCNH2 (I231L +4 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 67231	NM_000238.4(KCNH2):c.1685A>C (p.His562Pro)	KCNH2 (H222P +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely pathogenic
Select item 67229	NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr)	KCNH2 (A221T +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 67220	NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys)	KCNH2 (R194C +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 67198	NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile)	KCNH2 (T134I +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 67191	NM_000238.4(KCNH2):c.1366G>T (p.Asp456Tyr)	KCNH2 (D116Y +4 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 67184	NM_000238.4(KCNH2):c.1307C>T (p.Thr436Met)	KCNH2 (T436M +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 67174	NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr)	KCNH2 (A422T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 67173	NM_000238.4(KCNH2):c.1262C>T (p.Thr421Met)	KCNH2 (T421M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 67163	NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)	KCNH2 (P347S +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 29778	NM_000238.4(KCNH2):c.1831T>C (p.Tyr611His)	KCNH2 (Y611H +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GPathogenic
Select item 29777	NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)	KCNH2 (A614V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 14432	NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)	KCNH2 (S818L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 14427	NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)	KCNH2 (G628S +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 14424	NM_000238.4(KCNH2):c.2464G>A (p.Val822Met)	KCNH2 (V822M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 14423	NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg)	KCNH2 (I593R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 14421	NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp)	KCNH2 (N470D +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GPathogenic
Select item 14420	NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)	KCNH2 (A561V +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GPathogenic/Likely pathogenic

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Items: 44