"Clinical Genetics, Academic Medical Center"[submitter] AND "KCNQ1"[ge - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138009	NM_000218.3(KCNQ1):c.-5T>C	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +7 more	GConflicting classifications of pathogenicity
Select item 138010	NM_000218.3(KCNQ1):c.207G>T (p.Ala69=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +7 more	GBenign/Likely benign
Select item 53031	NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)	KCNQ1 (P73T)	Single nucleotide variant (missense variant)	Short QT syndrome type 2 +8 more	GConflicting classifications of pathogenicity
Select item 67072	NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)	KCNQ1 (V141M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GPathogenic
Select item 163734	NM_000218.3(KCNQ1):c.435C>T (p.Ile145=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 138012	NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)	KCNQ1	Single nucleotide variant (synonymous variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 42490	NM_000218.3(KCNQ1):c.478-10G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided +8 more	GBenign
Select item 227463	NM_000218.3(KCNQ1):c.531C>T (p.Ser177=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 53070	NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)	KCNQ1 (R190W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 191476	NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu)	KCNQ1 (P197L +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +8 more	GUncertain significance
Select item 42492	NM_000218.3(KCNQ1):c.619G>A (p.Val207Met)	KCNQ1 (V207M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 42493	NM_000218.3(KCNQ1):c.720C>T (p.His240=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +8 more	GBenign/Likely benign
Select item 53100	NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	KCNQ1 (R259C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 138001	NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +8 more	GConflicting classifications of pathogenicity
Select item 456871	NM_000218.3(KCNQ1):c.858C>T (p.Asp286=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 3128	NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)	KCNQ1 (A300T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 36439	NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)	KCNQ1 (A175V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 264431	NM_000218.3(KCNQ1):c.984C>T (p.Ile328=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 52946	NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)	KCNQ1 (Q356* +2 more)	Single nucleotide variant (nonsense)	Long QT syndrome 1 +6 more	GPathogenic
Select item 52956	NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)	KCNQ1 (R366Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GPathogenic/Likely pathogenic
Select item 52962	NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)	KCNQ1 (I248fs +1 more)	Deletion (frameshift variant)	Long QT syndrome 1 +3 more	GPathogenic
Select item 67020	NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)	KCNQ1 (K393N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +10 more	GConflicting classifications of pathogenicity
Select item 1284367	NM_000218.3(KCNQ1):c.1320C>G (p.Val440=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 52978	NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)	KCNQ1 (E449fs +1 more)	Duplication (frameshift variant)	Congenital long QT syndrome +8 more	GPathogenic
Select item 67026	NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)	KCNQ1 (P448R +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +8 more	GBenign/Likely benign
Select item 629070	NM_000218.3(KCNQ1):c.1394-13_1394-12del	KCNQ1, KCNQ1OT1	Microsatellite (intron variant)	not provided +2 more	GLikely benign
Select item 42485	NM_000218.3(KCNQ1):c.1394-14C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 927801	NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys)	KCNQ1, KCNQ1OT1 (N483K +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 42486	NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 200812	NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 227461	NM_000218.3(KCNQ1):c.1514+7G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 52994	NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly)	KCNQ1 (V524G +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 36436	NM_000218.3(KCNQ1):c.1590+14T>C	KCNQ1	Single nucleotide variant (intron variant)	Cardiac arrhythmia +8 more	GBenign/Likely benign
Select item 506544	NM_000218.3(KCNQ1):c.1591-4G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 42488	NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign
Select item 53018	NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	KCNQ1 (R594Q +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 163744	NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)	KCNQ1-AS1, KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 36437	NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)	KCNQ1, KCNQ1-AS1 (G516S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 42489	NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +9 more	GBenign

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Items: 39