"GeneDx"[submitter] AND "KCNQ1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 1201132	NC_000011.10:g.2444714C>G	KCNQ1	Single nucleotide variant	not provided	GLikely benign
Select item 1225723	NC_000011.10:g.2444990del	LOC130005142, KCNQ1	Deletion	not provided	GBenign
Select item 1227723	NC_000011.10:g.2444986C>A	KCNQ1, LOC130005142	Single nucleotide variant	not provided	GBenign
Select item 304213	NM_000218.3(KCNQ1):c.-38C>T	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Short QT syndrome type 2 +5 more	GConflicting classifications of pathogenicity
Select item 506583	NM_000218.3(KCNQ1):c.-24del	KCNQ1	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 138009	NM_000218.3(KCNQ1):c.-5T>C	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 3 +7 more	GConflicting classifications of pathogenicity
Select item 488859	NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys)	KCNQ1 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 67091	NM_000218.3(KCNQ1):c.5C>T (p.Ala2Val)	KCNQ1 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 200866	NM_000218.3(KCNQ1):c.8C>G (p.Ala3Gly)	KCNQ1 (A3G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523933	NM_000218.3(KCNQ1):c.20del (p.Pro7fs)	KCNQ1 (P7fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 418271	NM_000218.3(KCNQ1):c.31G>A (p.Glu11Lys)	KCNQ1 (E11K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 200867	NM_000218.3(KCNQ1):c.37A>T (p.Lys13Ter)	KCNQ1 (K13*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 200868	NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg)	KCNQ1 (G22R)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 200869	NM_000218.3(KCNQ1):c.81C>A (p.Ser27Arg)	KCNQ1 (S27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523769	NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter)	KCNQ1 (K32*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 840373	NM_000218.3(KCNQ1):c.104C>T (p.Pro35Leu)	KCNQ1 (P35L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 378010	NM_000218.3(KCNQ1):c.105C>A (p.Pro35=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GLikely benign
Select item 488698	NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter)	KCNQ1 (E42*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 378894	NM_000218.3(KCNQ1):c.129C>T (p.Gly43=)	KCNQ1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 420658	NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs)	KCNQ1 (A49fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1312976	NM_000218.3(KCNQ1):c.134C>G (p.Pro45Arg)	KCNQ1 (P45R)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 52982	NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr)	KCNQ1 (A46T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +8 more	GUncertain significance
Select item 42487	NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)	KCNQ1	Duplication (inframe_insertion)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 52989	NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)	KCNQ1 (Y51*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 379001	NM_000218.3(KCNQ1):c.159C>T (p.Pro53=)	KCNQ1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1209311	NM_000218.3(KCNQ1):c.160_161insATCGCGCCC (p.Ile54delinsAsnArgAlaLeu)	KCNQ1	Insertion (inframe_indel)	not provided	GLikely benign
Select item 3252616	NM_000218.3(KCNQ1):c.162C>T (p.Ile54=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 200889	NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs)	KCNQ1 (G57fs)	Deletion (frameshift variant)	Cardiac arrhythmia +1 more	GPathogenic
Select item 1203548	NM_000218.3(KCNQ1):c.168C>T (p.Pro56=)	KCNQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1216469	NM_000218.3(KCNQ1):c.169_170insATCGCGCCC (p.Gly57delinsAspArgAlaArg)	KCNQ1	Insertion (inframe_indel)	not provided	GLikely benign
Select item 517627	NM_000218.3(KCNQ1):c.181C>A (p.Pro61Thr)	KCNQ1 (P61T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1001109	NM_000218.3(KCNQ1):c.190_210del (p.Pro64_Pro70del)	KCNQ1	Deletion (inframe_deletion)	Long QT syndrome +1 more	GUncertain significance
Select item 504457	NM_000218.3(KCNQ1):c.192_221del (p.Ala65_Pro74del)	KCNQ1	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 200880	NM_000218.3(KCNQ1):c.184G>A (p.Ala62Thr)	KCNQ1 (A62T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 502107	NM_000218.3(KCNQ1):c.190C>T (p.Pro64Ser)	KCNQ1 (P64S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 933445	NM_000218.3(KCNQ1):c.197C>A (p.Ser66Tyr)	KCNQ1 (S66Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 449221	NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)	KCNQ1 (P67fs)	Deletion (frameshift variant)	Long QT syndrome +7 more	GPathogenic/Likely pathogenic
Select item 3130	NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1])	KCNQ1	Microsatellite (inframe_deletion)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 138010	NM_000218.3(KCNQ1):c.207G>T (p.Ala69=)	KCNQ1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 200871	NM_000218.3(KCNQ1):c.208C>A (p.Pro70Thr)	KCNQ1 (P70T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 53031	NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)	KCNQ1 (P73T)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
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 451983	NM_000218.3(KCNQ1):c.230C>T (p.Ser77Phe)	KCNQ1 (S77F)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 200875	NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu)	KCNQ1 (P81L)	Single nucleotide variant (missense variant)	Short QT syndrome type 2 +7 more	GUncertain significance
Select item 200876	NM_000218.3(KCNQ1):c.251C>G (p.Pro84Arg)	KCNQ1 (P84R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1707106	NM_000218.3(KCNQ1):c.268C>T (p.Arg90Cys)	KCNQ1 (R90C)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1211571	NM_000218.3(KCNQ1):c.275C>G (p.Ser92Cys)	KCNQ1 (S92C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1810577	NM_000218.3(KCNQ1):c.293G>A (p.Arg98His)	KCNQ1 (R98H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 200877	NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg)	KCNQ1 (P99R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 390646	NM_000218.3(KCNQ1):c.297G>C (p.Pro99=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 506501	NM_000218.3(KCNQ1):c.324C>T (p.Gly108=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 53034	NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile)	KCNQ1 (V110I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 53035	NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys)	KCNQ1 (Y111C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 200879	NM_000218.3(KCNQ1):c.343G>A (p.Glu115Lys)	KCNQ1 (E115K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3343855	NM_000218.3(KCNQ1):c.347G>T (p.Arg116Leu)	KCNQ1 (R116L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 200915	NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)	KCNQ1 (C122fs)	Duplication (frameshift variant)	Long QT syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 53039	NM_000218.3(KCNQ1):c.365G>A (p.Cys122Tyr)	KCNQ1 (C122Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 200910	NM_000218.3(KCNQ1):c.373T>G (p.Tyr125Asp)	KCNQ1 (Y125D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 429656	NM_000218.3(KCNQ1):c.374A>G (p.Tyr125Cys)	KCNQ1 (Y125C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 489011	NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter)	KCNQ1 (Y125*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 200911	NM_000218.3(KCNQ1):c.377A>T (p.His126Leu)	KCNQ1 (H126L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 419579	NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs)	KCNQ1 (V129fs)	Duplication (frameshift variant)	Long QT syndrome +2 more	GPathogenic
Select item 512508	NM_000218.3(KCNQ1):c.386+9C>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 378011	NM_000218.3(KCNQ1):c.386+14C>T	KCNQ1	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1180070	NM_000218.3(KCNQ1):c.386+218_386+219del	KCNQ1	Deletion (intron variant)	not provided	GBenign
Select item 152834	GRCh38/hg38 11p15.5(chr11:2454516-2461603)x1	KCNQ1	Copy number loss	See cases	GPathogenic
Select item 680962	NM_000218.3(KCNQ1):c.386+15671G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680620	NM_000218.3(KCNQ1):c.386+15841G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259243	NM_000218.3(KCNQ1):c.386+16041T>C	KCNQ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226171	NM_000218.3(KCNQ1):c.386+16065C>T	KCNQ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291250	NM_000218.3(KCNQ1):c.386+16066G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258994	NM_000218.3(KCNQ1):c.386+16110G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378012	NM_000218.3(KCNQ1):c.386+16215C>T	KCNQ1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 138003	NM_000218.3(KCNQ1):c.386+16216G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1302477	NM_000218.3(KCNQ1):c.386+16221C>A	KCNQ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 178384	NM_000218.3(KCNQ1):c.386+16242G>A	KCNQ1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 680938	NM_000218.3(KCNQ1):c.386+16519_386+16522del	KCNQ1	Deletion (intron variant)	not provided	GLikely benign
Select item 680939	NM_000218.3(KCNQ1):c.386+16523A>G	KCNQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218344	NM_000218.3(KCNQ1):c.387-250C>T	KCNQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291251	NM_000218.3(KCNQ1):c.387-97G>C	KCNQ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279590	NM_000218.3(KCNQ1):c.387-51T>C	KCNQ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378013	NM_000218.3(KCNQ1):c.387-18C>T	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GBenign/Likely benign
Select item 811046	NM_000218.3(KCNQ1):c.387-17G>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 304216	NM_000218.3(KCNQ1):c.387-7C>T	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1191949	NM_000218.3(KCNQ1):c.387-3C>G	KCNQ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 200873	NM_000218.3(KCNQ1):c.392T>C (p.Leu131Pro)	KCNQ1 (L131P +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 67070	NM_000218.3(KCNQ1):c.401T>C (p.Leu134Pro)	KCNQ1 (L134P +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 200891	NM_000218.3(KCNQ1):c.403del (p.Val135fs)	KCNQ1 (V135fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 53042	NM_000218.3(KCNQ1):c.409C>T (p.Leu137Phe)	KCNQ1 (L137F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 633280	NM_000218.3(KCNQ1):c.420C>T (p.Ser140=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GLikely benign
Select item 67072	NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)	KCNQ1 (V141M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 200892	NM_000218.3(KCNQ1):c.425del (p.Leu142fs)	KCNQ1 (L15fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 67073	NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala)	KCNQ1 (T144A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 163734	NM_000218.3(KCNQ1):c.435C>T (p.Ile145=)	KCNQ1	Single nucleotide variant (synonymous variant)	Short QT syndrome type 2 +8 more	GBenign/Likely benign
Select item 53043	NM_000218.3(KCNQ1):c.436G>A (p.Glu146Lys)	KCNQ1 (E146K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 418272	NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)	KCNQ1 (E146G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1312672	NM_000218.3(KCNQ1):c.440A>T (p.Gln147Leu)	KCNQ1 (Q147L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138011	NM_000218.3(KCNQ1):c.447C>T (p.Ala149=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign

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