ClinVar for Gene (Select 3784) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383201	NM_000218.3(KCNQ1):c.1432del (p.His478fs)	KCNQ1, KCNQ1OT1 (H298fs +4 more)	Deletion (non-coding transcript variant +1 more)	Long QT syndrome 1	GLikely pathogenic
Select item 3383071	NM_000218.3(KCNQ1):c.1257_1260del (p.Lys421fs)	KCNQ1 (K241fs +4 more)	Deletion (frameshift variant)	Jervell and Lange-Nielsen syndrome 1 +3 more	GLikely pathogenic
Select item 3382790	NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter)	KCNQ1 (W121* +2 more)	Single nucleotide variant (nonsense +1 more)	Jervell and Lange-Nielsen syndrome 1 +3 more	GPathogenic
Select item 3377499	NM_000218.3(KCNQ1):c.641G>A (p.Cys214Tyr)	KCNQ1 (C124Y +2 more)	Single nucleotide variant (missense variant +1 more)	Jervell and Lange-Nielsen syndrome 1	GUncertain significance
Select item 3376696	NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala)	KCNQ1 (P195A +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 3376677	NM_000218.3(KCNQ1):c.1515-4G>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 3376665	NM_000218.3(KCNQ1):c.1033-2del	KCNQ1	Deletion (splice acceptor variant +1 more)	Long QT syndrome 1	GLikely pathogenic
Select item 3376650	NM_000218.3(KCNQ1):c.321G>C (p.Gln107His)	KCNQ1 (Q107H)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 1	GLikely pathogenic
Select item 3356598	NM_000218.3(KCNQ1):c.1393+27598C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3355160	NM_000218.3(KCNQ1):c.1394-7930G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3350529	NR_002728.4(KCNQ1OT1):n.30932T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1OT1-related disorder	GUncertain significance
Select item 3349497	NM_000218.3(KCNQ1):c.1394-32867A>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3349355	NM_000218.3(KCNQ1):c.1514+4974G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3348283	NM_000218.3(KCNQ1):c.1394-24784C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
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 3341930	NM_000218.3(KCNQ1):c.1514+4306G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3341926	NM_000218.3(KCNQ1):c.1394-1594C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3341919	NM_000218.3(KCNQ1):c.1514+16318C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3341345	NM_000218.3(KCNQ1):c.173C>A (p.Ala58Asp)	KCNQ1 (A58D)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 1	GUncertain significance
Select item 3338779	NM_000218.3(KCNQ1):c.1034G>T (p.Gly345Val)	KCNQ1 (G218V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3338742	NM_000218.3(KCNQ1):c.1885G>C (p.Gly629Arg)	KCNQ1, KCNQ1-AS1 (G133R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338330	NM_000218.3(KCNQ1):c.508G>A (p.Glu170Lys)	KCNQ1 (E170K +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation	GLikely pathogenic
Select item 3337886	NM_000218.2:c.782_1128+1del	KCNQ1	Deletion	not provided	GLikely pathogenic
Select item 3337204	NM_000218.3(KCNQ1):c.223del (p.Val75fs)	KCNQ1 (V75fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3337203	NM_000218.3(KCNQ1):c.126G>C (p.Glu42Asp)	KCNQ1 (E42D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3335922	NM_000218.3(KCNQ1):c.210del (p.Ala71fs)	KCNQ1 (A71fs)	Deletion (frameshift variant +1 more)	Jervell and Lange-Nielsen syndrome 1	GLikely pathogenic
Select item 3287732	NM_000218.3(KCNQ1):c.1410A>G (p.Thr470=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3287731	NM_000218.3(KCNQ1):c.1212T>A (p.Thr404=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3287729	NM_000218.3(KCNQ1):c.49T>G (p.Trp17Gly)	KCNQ1 (W17G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3287728	NM_000218.3(KCNQ1):c.1871C>A (p.Thr624Asn)	KCNQ1, KCNQ1-AS1 (T444N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287727	NM_000218.3(KCNQ1):c.1120C>G (p.Leu374Val)	KCNQ1 (L374V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3287726	NM_000218.3(KCNQ1):c.1227C>T (p.Ser409=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3287724	NM_000218.3(KCNQ1):c.40C>A (p.Arg14Ser)	KCNQ1 (R14S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3257277	NM_000218.3(KCNQ1):c.1514+12838A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3257254	NM_000218.3(KCNQ1):c.1393+23728T>C	KCNQ1OT1, KCNQ1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3257252	NM_000218.3(KCNQ1):c.1514+23885G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3257246	NM_000218.3(KCNQ1):c.1514+28255G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3257245	NM_000218.3(KCNQ1):c.1514+28197T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3257244	NM_000218.3(KCNQ1):c.1514+37575_1514+37600del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3257243	NM_000218.3(KCNQ1):c.1514+32677G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3257238	NM_000218.3(KCNQ1):c.1393+27615G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3252959	NM_000218.3(KCNQ1):c.1092C>G (p.Phe364Leu)	KCNQ1 (F237L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3251185	NM_000218.3(KCNQ1):c.1514+17320G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3251184	NM_000218.3(KCNQ1):c.1514+105A>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250974	NM_000218.3(KCNQ1):c.1393+30898T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250954	NM_000218.3(KCNQ1):c.1394-17223C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250953	NM_000218.3(KCNQ1):c.1394-19895C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250952	NM_000218.3(KCNQ1):c.1394-20249C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250951	NM_000218.3(KCNQ1):c.1394-12529T>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250937	NM_000218.3(KCNQ1):c.1514+37569G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250936	NM_000218.3(KCNQ1):c.1514+34238C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250935	NM_000218.3(KCNQ1):c.1514+20091C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250919	NM_000218.3(KCNQ1):c.1514+13711G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250918	NM_000218.3(KCNQ1):c.1514+5594G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250916	NM_000218.3(KCNQ1):c.1514+28809G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250915	NM_000218.3(KCNQ1):c.1514+17154C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250914	NM_000218.3(KCNQ1):c.1514+5934C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250908	NM_000218.3(KCNQ1):c.1393+21918C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3250907	NM_000218.3(KCNQ1):c.1514+2290G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250906	NM_000218.3(KCNQ1):c.1514+2476G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250905	NM_000218.3(KCNQ1):c.1394-10394C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250903	NM_000218.3(KCNQ1):c.1393+23060del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250901	NM_000218.3(KCNQ1):c.1393+29127G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250507	NM_000218.3(KCNQ1):c.1514+34356T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3244545	NC_000011.9:g.(?_2683171)_(2799287_?)dup	KCNQ1, KCNQ1OT1	Duplication	Long QT syndrome	GLikely pathogenic
Select item 3244544	NC_000011.9:g.(?_2233574)_(2499178_?)dup	ASCL2, C11orf21 +5 more	Duplication	Long QT syndrome	GUncertain significance
Select item 3244543	NC_000011.9:g.(?_2466329)_(2869233_?)dup	KCNQ1, KCNQ1OT1	Duplication	Long QT syndrome	GUncertain significance
Select item 3244542	NC_000011.9:g.(?_2549138)_(2594236_?)del	KCNQ1	Deletion	Long QT syndrome	GPathogenic
Select item 3244541	NC_000011.9:g.(?_2604645)_(2604795_?)del	KCNQ1	Deletion	Long QT syndrome	GPathogenic
Select item 3244540	NC_000011.9:g.(?_2868977)_(2869233_?)del	KCNQ1	Deletion	Long QT syndrome	GPathogenic
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3239329	NM_000218.3(KCNQ1):c.1514+616G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3235934	NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser)	KCNQ1 (R411S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 3235891	NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa)	KCNQ1, KCNQ1-AS1	Deletion (stop lost)	Atrial fibrillation, familial, 3 +2 more	GLikely pathogenic
Select item 3234653	NM_000218.3(KCNQ1):c.1514+8413G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3234560	NM_000218.3(KCNQ1):c.1394-3227T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3234549	NM_000218.3(KCNQ1):c.1394-3914A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3234548	NM_000218.3(KCNQ1):c.1514+31602C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3234543	NM_000218.3(KCNQ1):c.1514+36449C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3234539	NM_000218.3(KCNQ1):c.1393+33077_1393+33079del	KCNQ1, KCNQ1OT1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3234536	NM_000218.3(KCNQ1):c.1394-27827dup	KCNQ1, KCNQ1OT1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3234534	NM_000218.3(KCNQ1):c.1394-3656A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3230640	NM_000218.3(KCNQ1):c.80G>A (p.Ser27Asn)	KCNQ1 (S27N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3230639	NM_000218.3(KCNQ1):c.555G>A (p.Val185=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3230638	NM_000218.3(KCNQ1):c.252G>A (p.Pro84=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3230637	NM_000218.3(KCNQ1):c.1965C>T (p.Pro655=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230636	NM_000218.3(KCNQ1):c.1959C>A (p.Phe653Leu)	KCNQ1, KCNQ1-AS1 (F157L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230635	NM_000218.3(KCNQ1):c.1818G>A (p.Leu606=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230634	NM_000218.3(KCNQ1):c.1578G>A (p.Lys526=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230633	NM_000218.3(KCNQ1):c.1557C>T (p.Arg519=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230632	NM_000218.3(KCNQ1):c.1017C>T (p.Phe339=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3076068	NM_000218.3(KCNQ1):c.191del (p.Pro64fs)	KCNQ1 (P64fs)	Deletion (frameshift variant +1 more)	Congenital long QT syndrome	GLikely pathogenic
Select item 3075923	NM_000218.3(KCNQ1):c.1732+1G>T	KCNQ1	Single nucleotide variant (splice donor variant)	Jervell and Lange-Nielsen syndrome	GLikely pathogenic
Select item 3075396	NM_000218.3(KCNQ1):c.1252-12T>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3075354	NM_000218.3(KCNQ1):c.2028_*9del (p.Ter677GlyextTer?)	KCNQ1, KCNQ1-AS1	Deletion (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 3075342	NM_000218.3(KCNQ1):c.1179G>C (p.Lys393Asn)	KCNQ1 (K213N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 3075340	NM_000218.3(KCNQ1):c.1892C>T (p.Pro631Leu)	KCNQ1, KCNQ1-AS1 (P135L +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3075255	NM_000218.3(KCNQ1):c.1946A>G (p.Asp649Gly)	KCNQ1, KCNQ1-AS1 (D153G +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3075204	NM_000218.3(KCNQ1):c.1822C>T (p.Leu608Phe)	KCNQ1, KCNQ1-AS1 (L112F +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance

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