"Revvity Omics, Revvity"[submitter] AND "KCNQ1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163732	NM_000218.3(KCNQ1):c.225T>C (p.Val75=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2440963	NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter)	KCNQ1 (Q107*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 53047	NM_000218.3(KCNQ1):c.477+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GPathogenic
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 207967	NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)	KCNQ1 (G186D +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GLikely pathogenic
Select item 53072	NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	KCNQ1 (R192fs +1 more)	Deletion (frameshift variant)	Long QT syndrome 1 +8 more	GPathogenic
Select item 67089	NM_000218.3(KCNQ1):c.592A>G (p.Ile198Val)	KCNQ1 (I198V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 53087	NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)	KCNQ1 (R231H +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 2440959	NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter)	KCNQ1 (W178* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2126605	NM_000218.3(KCNQ1):c.959C>G (p.Pro320Arg)	KCNQ1 (P230R +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3120	NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)	KCNQ1 (A341E +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 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 52973	NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)	KCNQ1 (K295fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 52978	NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)	KCNQ1 (E449fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 67029	NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)	KCNQ1 (R451Q +4 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 924594	NM_000218.3(KCNQ1):c.1437C>A (p.Phe479Leu)	KCNQ1, KCNQ1OT1 (F352L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 925996	NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)	KCNQ1, KCNQ1OT1 (A359T +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GConflicting classifications of pathogenicity
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 52998	NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	KCNQ1 (R539W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 2074254	NM_000218.3(KCNQ1):c.1690G>A (p.Asp564Asn)	KCNQ1 (D384N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 3142	NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)	KCNQ1 (R583C +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 53018	NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	KCNQ1 (R594Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GPathogenic/Likely pathogenic
Select item 67059	NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)	KCNQ1, KCNQ1-AS1 (D611N +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity

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Items: 23