"Baylor Genetics"[submitter] AND "KCNQ1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027906	NM_000218.3(KCNQ1):c.386+16231G>A	KCNQ1	Single nucleotide variant (intron variant +1 more)	Long QT syndrome 1	GConflicting classifications of pathogenicity
Select item 53084	NM_000218.3(KCNQ1):c.683+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 67117	NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)	KCNQ1 (R293C +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 67005	NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly)	KCNQ1 (A341G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 207968	NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)	KCNQ1 (F224L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 52950	NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	KCNQ1 (Q359* +2 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +8 more	GPathogenic
Select item 52953	NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	KCNQ1 (K362R +2 more)	Single nucleotide variant (missense variant)	KCNQ1-related disorder +22 more	GPathogenic/Likely pathogenic
Select item 3131	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	KCNQ1 (R518* +4 more)	Single nucleotide variant (nonsense)	Conduction disorder of the heart +8 more	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic