"MGZ Medical Genetics Center"[submitter] AND "KCNQ1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53047	NM_000218.3(KCNQ1):c.477+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GPathogenic
Select item 1709048	NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs)	KCNQ1 (G179fs +1 more)	Duplication (frameshift variant)	Long QT syndrome 1	GLikely pathogenic
Select item 265209	NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)	KCNQ1 (Y171* +2 more)	Single nucleotide variant (nonsense)	Long QT syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 53063	NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	KCNQ1 (G179S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 3117	NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	KCNQ1 (R190Q +2 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +5 more	GPathogenic/Likely pathogenic
Select item 37255	NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)	KCNQ1 (V205M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +4 more	GPathogenic
Select item 53086	NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	KCNQ1 (R231C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GPathogenic/Likely pathogenic
Select item 52956	NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)	KCNQ1 (R366Q +2 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 52974	NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)	KCNQ1 (F296fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +9 more	GPathogenic/Likely pathogenic
Select item 200858	NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)	KCNQ1 (R467* +5 more)	Single nucleotide variant (nonsense)	Long QT syndrome +4 more	GPathogenic/Likely pathogenic
Select item 53027	NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	KCNQ1, KCNQ1-AS1 (R505fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic