"CSER _CC_NCGL, University of Washington"[submitter] AND "KCNQ1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 67075	NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met)	KCNQ1 (T153M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 53061	NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)	KCNQ1 (A178T +2 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 1 +5 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 +6 more	GPathogenic
Select item 67087	NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)	KCNQ1 (R195W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 37255	NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)	KCNQ1 (V205M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 67109	NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)	KCNQ1 (I274V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 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)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 67020	NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)	KCNQ1 (K393N +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 52970	NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)	KCNQ1 (R397W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GConflicting classifications of pathogenicity
Select item 67029	NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)	KCNQ1 (R451Q +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 52980	NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)	KCNQ1 (R452W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 67031	NM_000218.3(KCNQ1):c.1378G>A (p.Gly460Ser)	KCNQ1 (G460S +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 3131	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	KCNQ1 (R518* +4 more)	Single nucleotide variant (nonsense)	not specified +8 more	GPathogenic
Select item 67036	NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)	KCNQ1 (R518Q +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 52995	NM_000218.3(KCNQ1):c.1576A>G (p.Lys526Glu)	KCNQ1 (K526E +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 67057	NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met)	KCNQ1, KCNQ1-AS1 (T600M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 67059	NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)	KCNQ1, KCNQ1-AS1 (D611N +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GConflicting classifications of pathogenicity