ClinVar for Gene (Select 3784) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	TSPAN4, TSSC4 +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
Select item 3075200	NM_000218.3(KCNQ1):c.1282G>T (p.Asp428Tyr)	KCNQ1 (D248Y +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3075141	NM_000218.3(KCNQ1):c.1065G>A (p.Val355=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3075125	NM_000218.3(KCNQ1):c.660G>T (p.Gln220His)	KCNQ1 (Q130H +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3075080	NM_000218.3(KCNQ1):c.1067_1078del (p.Gln356_Gln359del)	KCNQ1	Deletion (inframe_deletion +1 more)	Long QT syndrome	GUncertain significance
Select item 3075023	NM_000218.3(KCNQ1):c.1162G>C (p.Asp388His)	KCNQ1 (D208H +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074995	NM_000218.3(KCNQ1):c.1891C>G (p.Pro631Ala)	KCNQ1, KCNQ1-AS1 (P135A +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074960	NM_000218.3(KCNQ1):c.1856T>C (p.Leu619Ser)	KCNQ1, KCNQ1-AS1 (L123S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074935	NM_000218.3(KCNQ1):c.1046C>T (p.Ser349Leu)	KCNQ1 (S222L +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074799	NM_000218.3(KCNQ1):c.1403G>T (p.Ser468Ile)	KCNQ1, KCNQ1OT1 (S288I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074538	NM_000218.3(KCNQ1):c.1132G>C (p.Ala378Pro)	KCNQ1 (A198P +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074516	NM_000218.3(KCNQ1):c.1045T>G (p.Ser349Ala)	KCNQ1 (S222A +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3074316	NM_000218.3(KCNQ1):c.1747C>G (p.Arg583Gly)	KCNQ1 (R403G +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074296	NM_000218.3(KCNQ1):c.1257G>C (p.Lys419Asn)	KCNQ1 (K239N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074275	NM_000218.3(KCNQ1):c.1944C>G (p.Val648=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3074230	NM_000218.3(KCNQ1):c.906G>C (p.Ala302=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3074102	NM_000218.3(KCNQ1):c.1145A>G (p.Tyr382Cys)	KCNQ1 (Y202C +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3074046	NM_000218.3(KCNQ1):c.684-7T>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3073983	NM_000218.3(KCNQ1):c.1819G>A (p.Ala607Thr)	KCNQ1, KCNQ1-AS1 (A111T +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073965	NM_000218.3(KCNQ1):c.1868G>T (p.Ser623Ile)	KCNQ1, KCNQ1-AS1 (S127I +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073819	NM_000218.3(KCNQ1):c.715C>G (p.Leu239Val)	KCNQ1 (L112V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073755	NM_000218.3(KCNQ1):c.1310T>G (p.Met437Arg)	KCNQ1 (M257R +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073701	NM_000218.3(KCNQ1):c.1686-12C>T	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3073692	NM_000218.3(KCNQ1):c.970G>C (p.Val324Leu)	KCNQ1 (V176L +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073690	NM_000218.3(KCNQ1):c.564G>C (p.Trp188Cys)	KCNQ1 (W188C +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073593	NM_000218.3(KCNQ1):c.469T>C (p.Phe157Leu)	KCNQ1 (F157L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073464	NM_000218.3(KCNQ1):c.899C>G (p.Ala300Gly)	KCNQ1 (A173G +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3073416	NM_000218.3(KCNQ1):c.1896A>G (p.Arg632=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3073410	NM_000218.3(KCNQ1):c.2013C>G (p.Gly671=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3073332	NM_000218.3(KCNQ1):c.1276G>C (p.Asp426His)	KCNQ1 (D246H +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073055	NM_000218.3(KCNQ1):c.493G>C (p.Val165Leu)	KCNQ1 (V165L +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3072957	NM_000218.3(KCNQ1):c.1733-9C>G	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3072808	NM_000218.3(KCNQ1):c.885G>A (p.Glu295=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3072759	NM_000218.3(KCNQ1):c.1535C>A (p.Ala512Asp)	KCNQ1 (A332D +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3072709	NM_000218.3(KCNQ1):c.1337A>G (p.Asp446Gly)	KCNQ1 (D266G +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3072406	NM_000218.3(KCNQ1):c.1500C>T (p.Ile500=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 3072390	NM_000218.3(KCNQ1):c.1123A>G (p.Ile375Val)	KCNQ1 (I248V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3072247	NM_000218.3(KCNQ1):c.604+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3072137	NM_000218.3(KCNQ1):c.780G>C (p.Gln260His)	KCNQ1 (Q133H +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3071999	NM_000218.3(KCNQ1):c.1721T>C (p.Ile574Thr)	KCNQ1 (I394T +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3071917	NM_000218.3(KCNQ1):c.1591-5del	KCNQ1	Deletion (intron variant)	Long QT syndrome	GUncertain significance
Select item 3071888	NM_000218.3(KCNQ1):c.1128+4del	KCNQ1	Deletion (intron variant)	Long QT syndrome	GUncertain significance
Select item 3071751	NM_000218.3(KCNQ1):c.1810C>G (p.Gln604Glu)	KCNQ1, KCNQ1-AS1 (Q108E +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3071669	NM_000218.3(KCNQ1):c.635T>C (p.Val212Ala)	KCNQ1 (V122A +2 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3071644	NM_000218.3(KCNQ1):c.847G>A (p.Ala283Thr)	KCNQ1 (A156T +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3071587	NM_000218.3(KCNQ1):c.1506C>T (p.His502=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3071366	NM_000218.3(KCNQ1):c.1515-3C>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3070840	NM_000218.3(KCNQ1):c.2010G>A (p.Arg670=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3070794	NM_000218.3(KCNQ1):c.781-8T>G	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3070552	NM_000218.3(KCNQ1):c.1282G>A (p.Asp428Asn)	KCNQ1 (D248N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3070460	NM_000218.3(KCNQ1):c.1015T>G (p.Phe339Val)	KCNQ1 (F191V +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3070450	NM_000218.3(KCNQ1):c.1844A>C (p.Gln615Pro)	KCNQ1-AS1, KCNQ1 (Q119P +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3070401	NM_000218.3(KCNQ1):c.398T>C (p.Val133Ala)	KCNQ1 (V133A +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3070363	NM_000218.3(KCNQ1):c.1795-14C>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3070054	NM_000218.3(KCNQ1):c.1252-11_1252-10insA	KCNQ1	Insertion (intron variant)	Long QT syndrome	GUncertain significance
Select item 3070021	NM_000218.3(KCNQ1):c.935C>G (p.Thr312Ser)	KCNQ1 (T164S +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3069749	NM_000218.3(KCNQ1):c.1471C>G (p.Leu491Val)	KCNQ1, KCNQ1OT1 (L311V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3069739	NM_000218.3(KCNQ1):c.909_910insGTGGTGGGGGGTGGTAA (p.Trp304fs)	KCNQ1 (W177fs +2 more)	Insertion (frameshift variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3069599	NM_000218.3(KCNQ1):c.519C>T (p.Val173=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3069462	NM_000218.3(KCNQ1):c.1159C>T (p.Pro387Ser)	KCNQ1 (P207S +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3067767	NM_000218.3(KCNQ1):c.1394-29213G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067766	NM_000218.3(KCNQ1):c.1394-34811G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067765	NM_000218.3(KCNQ1):c.1393+34458G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067544	NM_000218.3(KCNQ1):c.1514+5381T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067541	NM_000218.3(KCNQ1):c.1514+37500G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3067540	NM_000218.3(KCNQ1):c.1514+35216A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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