KCNQ1[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 2203091.	NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu) GRCh37: Chr11:2466329 GRCh38: Chr11:2445099	KCNQ1	M1L	Long QT syndrome	Pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 4888592.	NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys) GRCh37: Chr11:2466330 GRCh38: Chr11:2445100	KCNQ1	M1K	not provided	Pathogenic (Feb 3, 2016)	criteria provided, single submitter
Select item 4310533.	NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly) GRCh37: Chr11:2466333 GRCh38: Chr11:2445103	KCNQ1		Long QT syndrome 1	Likely pathogenic (Jul 27, 2017)	criteria provided, single submitter
Select item 5239334.	NM_000218.3(KCNQ1):c.20del (p.Pro7fs) GRCh37: Chr11:2466345 GRCh38: Chr11:2445115	KCNQ1	P7fs	not provided	Likely pathogenic (Apr 30, 2018)	criteria provided, single submitter
Select item 2008675.	NM_000218.3(KCNQ1):c.37A>T (p.Lys13Ter) GRCh37: Chr11:2466365 GRCh38: Chr11:2445135	KCNQ1	K13*	not provided	Pathogenic (Apr 10, 2015)	criteria provided, single submitter
Select item 6636236.	NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter) GRCh37: Chr11:2466379 GRCh38: Chr11:2445149	KCNQ1	W17*	Long QT syndrome	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 5237697.	NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter) GRCh37: Chr11:2466422 GRCh38: Chr11:2445192	KCNQ1	K32*	not provided, Long QT syndrome	Pathogenic (Apr 2, 2018)	criteria provided, multiple submitters, no conflicts
Select item 17860308.	NM_000218.3(KCNQ1):c.107dup (p.Ser37fs) GRCh37: Chr11:2466433-2466434 GRCh38: Chr11:2445203-2445204	KCNQ1	S37fs	Cardiovascular phenotype	Pathogenic (Apr 4, 2017)	criteria provided, single submitter
Select item 3754559.	NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter) GRCh37: Chr11:2466443 GRCh38: Chr11:2445213	KCNQ1	E39*	Jervell and Lange-Nielsen syndrome 1	Pathogenic (Jan 5, 2017)	no assertion criteria provided
Select item 48869810.	NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter) GRCh37: Chr11:2466452 GRCh38: Chr11:2445222	KCNQ1	E42*	not provided	Likely pathogenic (Sep 6, 2017)	criteria provided, single submitter
Select item 42065811.	NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs) GRCh37: Chr11:2466461-2466462 GRCh38: Chr11:2445231-2445232	KCNQ1	A49fs	not provided	Pathogenic (Jan 27, 2017)	criteria provided, single submitter
Select item 93316812.	NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter) GRCh37: Chr11:2466481 GRCh38: Chr11:2445251	KCNQ1	Y51*	Cardiac arrhythmia, Long QT syndrome	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5298913.	NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter) GRCh37: Chr11:2466481 GRCh38: Chr11:2445251	KCNQ1	Y51*	Cardiovascular phenotype, not provided, Cardiac arrhythmia, Long QT syndrome	Pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107280114.	NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs) GRCh37: Chr11:2466482-2466497 GRCh38: Chr11:2445252-2445267	KCNQ1	I54fs	Long QT syndrome	Pathogenic (Oct 1, 2020)	criteria provided, single submitter
Select item 20088915.	NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs) GRCh37: Chr11:2466490-2466512 GRCh38: Chr11:2445260-2445282	KCNQ1	G57fs	Long QT syndrome, Cardiac arrhythmia	Pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63522116.	NM_000218.3(KCNQ1):c.176del (p.Pro59fs) GRCh37: Chr11:2466501 GRCh38: Chr11:2445271	KCNQ1	P59fs	not provided	Pathogenic (Aug 16, 2011)	no assertion criteria provided
Select item 44922117.	NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) GRCh37: Chr11:2466525-2466535 GRCh38: Chr11:2445295-2445305	KCNQ1	P67fs	Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 1, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2	Pathogenic/Likely pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40525818.	NM_000218.3(KCNQ1):c.200del (p.Pro67fs) GRCh37: Chr11:2466525 GRCh38: Chr11:2445295	KCNQ1	P67fs	Long QT syndrome	Pathogenic (Apr 22, 2016)	criteria provided, single submitter
Select item 178790519.	NM_000218.3(KCNQ1):c.221dup (p.Val75fs) GRCh37: Chr11:2466544-2466545 GRCh38: Chr11:2445314-2445315	KCNQ1	V75fs	Cardiovascular phenotype	Pathogenic (Jan 8, 2021)	criteria provided, single submitter
Select item 145709820.	NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter) GRCh37: Chr11:2466630 GRCh38: Chr11:2445400	KCNQ1	L101*	Long QT syndrome	Pathogenic (Aug 3, 2021)	criteria provided, single submitter
Select item 244096321.	NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter) GRCh37: Chr11:2466647 GRCh38: Chr11:2445417	KCNQ1	Q107*	not provided	Likely pathogenic (Dec 28, 2021)	criteria provided, single submitter
Select item 20087822.	NM_000218.3(KCNQ1):c.321G>T (p.Gln107His) GRCh37: Chr11:2466649 GRCh38: Chr11:2445419	KCNQ1	Q107H	Long QT syndrome 1	Likely pathogenic (Jan 9, 2018)	criteria provided, single submitter
Select item 203500723.	NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser) GRCh37: Chr11:2466660 GRCh38: Chr11:2445430	KCNQ1	Y111S	Long QT syndrome	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 5303524.	NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) GRCh37: Chr11:2466660 GRCh38: Chr11:2445430	KCNQ1	Y111C	Cardiovascular phenotype, not provided, Long QT syndrome	Pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5303625.	NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro) GRCh37: Chr11:2466669 GRCh38: Chr11:2445439	KCNQ1	L114P	Long QT syndrome, Cardiovascular phenotype	Likely pathogenic (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5303726.	NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly) GRCh37: Chr11:2466672 GRCh38: Chr11:2445442	KCNQ1	E115G	Long QT syndrome, Cardiovascular phenotype	Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148997827.	NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr) GRCh37: Chr11:2466677 GRCh38: Chr11:2445447	KCNQ1	P117T	Long QT syndrome	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 25415928.	NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser) GRCh37: Chr11:2466677 GRCh38: Chr11:2445447	KCNQ1	P117S	Long QT syndrome 1	Likely pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 314129.	NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu) GRCh37: Chr11:2466678 GRCh38: Chr11:2445448	KCNQ1	P117L	Long QT syndrome	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 107434730.	NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter) GRCh37: Chr11:2466687 GRCh38: Chr11:2445457	KCNQ1	W120*	Long QT syndrome	Pathogenic (Mar 18, 2020)	criteria provided, single submitter
Select item 145438231.	NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs) GRCh37: Chr11:2466688-2466697 GRCh38: Chr11:2445458-2445467	KCNQ1	K121fs	Long QT syndrome	Pathogenic (Nov 2, 2021)	criteria provided, single submitter
Select item 20091532.	NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) GRCh37: Chr11:2466691-2466692 GRCh38: Chr11:2445461-2445462	KCNQ1	C122fs	Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 1	Pathogenic/Likely pathogenic (Feb 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68480233.	NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn) GRCh37: Chr11:2466701 GRCh38: Chr11:2445471	KCNQ1	Y125N	Long QT syndrome	Likely pathogenic	criteria provided, single submitter
Select item 20091034.	NM_000218.3(KCNQ1):c.373T>G (p.Tyr125Asp) GRCh37: Chr11:2466701 GRCh38: Chr11:2445471	KCNQ1	Y125D	not provided	Likely pathogenic (Jan 12, 2012)	criteria provided, single submitter
Select item 42965635.	NM_000218.3(KCNQ1):c.374A>G (p.Tyr125Cys) GRCh37: Chr11:2466702 GRCh38: Chr11:2445472	KCNQ1	Y125C	not provided	Likely pathogenic (Sep 2, 2015)	criteria provided, single submitter
Select item 48901136.	NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter) GRCh37: Chr11:2466703 GRCh38: Chr11:2445473	KCNQ1	Y125*	not provided	Pathogenic (Apr 5, 2018)	criteria provided, single submitter
Select item 41957937.	NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs) GRCh37: Chr11:2466708-2466709 GRCh38: Chr11:2445478-2445479	KCNQ1	V129fs	Cardiovascular phenotype, not provided, Long QT syndrome	Pathogenic (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107520938.	NM_000218.3(KCNQ1):c.385del (p.Val129fs) GRCh37: Chr11:2466713 GRCh38: Chr11:2445483	KCNQ1	V129fs	Long QT syndrome	Pathogenic (Oct 8, 2020)	criteria provided, single submitter
Select item 152266339.	NM_000218.3(KCNQ1):c.386+1G>T GRCh37: Chr11:2466715 GRCh38: Chr11:2445485	KCNQ1		Long QT syndrome	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 15283440.	GRCh38/hg38 11p15.5(chr11:2454516-2461603)x1 GRCh37: Chr11:2475746-2482833 GRCh38: Chr11:2454516-2461603	KCNQ1		See cases	Pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 102790641.	NM_000218.3(KCNQ1):c.386+16231G>A GRCh37: Chr11:2482945 GRCh38: Chr11:2461715	KCNQ1		Long QT syndrome 1	Likely pathogenic (Nov 7, 2019)	criteria provided, single submitter
Select item 52712242.	NC_000011.10:g.(?_2527908)_(2528038_?)del GRCh37: Chr11:2549138-2549268 GRCh38: Chr11:2527908-2528038	KCNQ1		Long QT syndrome	Pathogenic (Jul 5, 2018)	criteria provided, single submitter
Select item 20087243.	NM_000218.3(KCNQ1):c.387-5T>A GRCh37: Chr11:2549153 GRCh38: Chr11:2527923	KCNQ1		Long QT syndrome	Likely pathogenic (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20089144.	NM_000218.3(KCNQ1):c.403del (p.Val135fs) GRCh37: Chr11:2549173 GRCh38: Chr11:2527943	KCNQ1	V135fs, V8fs	Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome, not provided	Likely pathogenic (Nov 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 314345.	NM_000218.3(KCNQ1):c.418A>G (p.Ser140Gly) GRCh37: Chr11:2549189 GRCh38: Chr11:2527959	KCNQ1	S140G, S13G, S50G	Atrial fibrillation, familial, 3	Pathogenic (Jan 10, 2003)	no assertion criteria provided
Select item 6707246.	NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) GRCh37: Chr11:2549192 GRCh38: Chr11:2527962	KCNQ1	V141M, V14M, V51M	Cardiovascular phenotype, not provided, Long QT syndrome	Pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20089247.	NM_000218.3(KCNQ1):c.425del (p.Leu142fs) GRCh37: Chr11:2549196 GRCh38: Chr11:2527966	KCNQ1	L15fs, L142fs	not provided, Long QT syndrome 1	Pathogenic/Likely pathogenic (Mar 27, 2018)	criteria provided, multiple submitters, no conflicts
Select item 20796948.	NM_000218.3(KCNQ1):c.443del (p.Tyr148fs) GRCh37: Chr11:2549214 GRCh38: Chr11:2527984	KCNQ1	Y148fs, Y21fs	Long QT syndrome 1, Long QT syndrome, Cardiac arrhythmia	Pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5304549.	NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) GRCh37: Chr11:2549222-2549223 GRCh38: Chr11:2527992-2527993	KCNQ1	L151fs, L24fs	Long QT syndrome, not provided	Pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42173750.	NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs) GRCh37: Chr11:2549235-2549236 GRCh38: Chr11:2528005-2528006	KCNQ1	F157fs, F30fs	Long QT syndrome, not provided	Pathogenic/Likely pathogenic (Oct 24, 2017)	criteria provided, multiple submitters, no conflicts
Select item 68478751.	NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro) GRCh37: Chr11:2549238 GRCh38: Chr11:2528008	KCNQ1	L156P, L29P, L66P	not provided	Likely pathogenic	criteria provided, single submitter
Select item 20087452.	NM_000218.3(KCNQ1):c.477+1G>A GRCh37: Chr11:2549249 GRCh38: Chr11:2528019	KCNQ1		Cardiac arrhythmia, Congenital long QT syndrome, not provided, Long QT syndrome 1, Cardiovascular phenotype, Long QT syndrome	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135073153.	NM_000218.3(KCNQ1):c.477+2T>C GRCh37: Chr11:2549250 GRCh38: Chr11:2528020	KCNQ1		Long QT syndrome	Pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 5304854.	NM_000218.3(KCNQ1):c.477+5G>C GRCh37: Chr11:2549253 GRCh38: Chr11:2528023	KCNQ1		not provided	Likely pathogenic (Sep 16, 2015)	criteria provided, single submitter
Select item 5304755.	NM_000218.3(KCNQ1):c.477+5G>A GRCh37: Chr11:2549253 GRCh38: Chr11:2528023	KCNQ1		Cardiovascular phenotype, Cardiac arrhythmia, Congenital long QT syndrome, Long QT syndrome 1, Long QT syndrome 1, not provided, Long QT syndrome, not specified	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66503856.	NC_000011.10:g.(?_2570608)_(2573006_?)del GRCh37: Chr11:2591838-2594236 GRCh38: Chr11:2570608-2573006	KCNQ1		Long QT syndrome	Pathogenic (Feb 22, 2019)	criteria provided, single submitter
Select item 86943457.	NM_001406838.1(KCNQ1):c.478-12807del GRCh37: Chr11:2591857 GRCh38: Chr11:2570627	KCNQ1		Long QT syndrome 1	Likely pathogenic (Aug 27, 2019)	criteria provided, single submitter
Select item 41734358.	NC_000011.10:g.(?_2570628)_(2572986_?)del GRCh37: Chr11:2591858-2594216 GRCh38: Chr11:2570628-2572986	KCNQ1		Long QT syndrome	Pathogenic (Apr 9, 2019)	criteria provided, single submitter
Select item 5305059.	NM_000218.3(KCNQ1):c.488del (p.Leu163fs) GRCh37: Chr11:2591868 GRCh38: Chr11:2570638	KCNQ1	L36fs	Long QT syndrome, Long QT syndrome 1, Rare genetic deafness, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome, Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 20088160.	NM_000218.3(KCNQ1):c.496TTC[1] (p.Phe167del) GRCh37: Chr11:2591876-2591878 GRCh38: Chr11:2570646-2570648	KCNQ1	F167del, F40del, F77del	not provided	Likely pathogenic (Oct 24, 2012)	criteria provided, single submitter
Select item 5305161.	NM_000218.3(KCNQ1):c.500_502del (p.Phe167_Gly168delinsTrp) GRCh37: Chr11:2591880-2591882 GRCh38: Chr11:2570650-2570652	KCNQ1		Long QT syndrome 1	Pathogenic (Jan 1, 1996)	no assertion criteria provided
Select item 5305462.	NM_000218.3(KCNQ1):c.504del (p.Thr169fs) GRCh37: Chr11:2591882 GRCh38: Chr11:2570652	KCNQ1	T169fs, T42fs	Long QT syndrome, not provided, Cardiovascular phenotype	Pathogenic (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5305363.	NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg) GRCh37: Chr11:2591882 GRCh38: Chr11:2570652	KCNQ1	G168R, G41R, G78R	not provided, Cardiovascular phenotype, Long QT syndrome	Pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5305264.	NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) GRCh37: Chr11:2591882 GRCh38: Chr11:2570652	KCNQ1	G168R, G41R, G78R	Cardiovascular phenotype, not provided, Cardiac arrhythmia, Long QT syndrome, Long QT syndrome 1	Pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51935765.	NM_000218.3(KCNQ1):c.510del (p.Glu170fs) GRCh37: Chr11:2591890 GRCh38: Chr11:2570660	KCNQ1	E170fs, E43fs	Cardiovascular phenotype	Pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 170904866.	NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs) GRCh37: Chr11:2591893-2591894 GRCh38: Chr11:2570663-2570664	KCNQ1	G179fs, G52fs	Long QT syndrome 1	Likely pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 81701667.	NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer) GRCh37: Chr11:2591893 GRCh38: Chr11:2570663	KCNQ1		not provided	Pathogenic (Dec 18, 2018)	criteria provided, single submitter
Select item 26520968.	NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) GRCh37: Chr11:2591893 GRCh38: Chr11:2570663	KCNQ1	Y171, Y44, Y81*	Long QT syndrome, Long QT syndrome 1, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5305669.	NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter) GRCh37: Chr11:2591893 GRCh38: Chr11:2570663	KCNQ1	Y171, Y44, Y81*	Long QT syndrome, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Beckwith-Wiedemann syndrome, Short QT syndrome type 2	Pathogenic (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25322170.	NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) GRCh37: Chr11:2591894-2591895 GRCh38: Chr11:2570664-2570665	KCNQ1	G52fs, G179fs	Long QT syndrome 1	Pathogenic/Likely pathogenic (Jul 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 51953771.	NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs) GRCh37: Chr11:2591895-2591905 GRCh38: Chr11:2570665-2570675	KCNQ1	L48fs, L175fs	Long QT syndrome, Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5305772.	NM_000218.3(KCNQ1):c.518T>A (p.Val173Asp) GRCh37: Chr11:2591898 GRCh38: Chr11:2570668	KCNQ1	V173D, V46D, V83D	Recurrent spontaneous abortion	Pathogenic (Mar 1, 2021)	criteria provided, single submitter
Select item 5305873.	NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) GRCh37: Chr11:2591900 GRCh38: Chr11:2570670	KCNQ1	R174C, R47C, R84C	Cardiovascular phenotype, not provided, Cardiac arrhythmia, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Long QT syndrome, Long QT syndrome 1	Pathogenic/Likely pathogenic (Nov 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20081474.	NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) GRCh37: Chr11:2591901 GRCh38: Chr11:2570671	KCNQ1	R174L, R47L, R84L	not provided, Long QT syndrome	Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5305975.	NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) GRCh37: Chr11:2591901 GRCh38: Chr11:2570671	KCNQ1	R174H, R47H, R84H	not provided, Long QT syndrome 1, Long QT syndrome, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Cardiovascular phenotype	Pathogenic/Likely pathogenic (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23500176.	NM_000218.3(KCNQ1):c.528G>A (p.Trp176Ter) GRCh37: Chr11:2591908 GRCh38: Chr11:2570678	KCNQ1	W176, W49, W86*	not provided	Pathogenic (Dec 7, 2011)	no assertion criteria provided
Select item 5306177.	NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) GRCh37: Chr11:2591912 GRCh38: Chr11:2570682	KCNQ1	A178T, A51T, A88T	not provided, Cardiovascular phenotype, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome, Long QT syndrome 1	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 311378.	NM_000218.3(KCNQ1):c.532G>C (p.Ala178Pro) GRCh37: Chr11:2591912 GRCh38: Chr11:2570682	KCNQ1	A178P, A51P, A88P	Long QT syndrome 1	Pathogenic (Jan 1, 1996)	no assertion criteria provided
Select item 5306279.	NM_000218.3(KCNQ1):c.533delinsGG (p.Ala178fs) GRCh37: Chr11:2591913 GRCh38: Chr11:2570683	KCNQ1	A51fs, A178fs	Long QT syndrome 1	Pathogenic (Sep 10, 2004)	no assertion criteria provided
Select item 5306380.	NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) GRCh37: Chr11:2591915 GRCh38: Chr11:2570685	KCNQ1	G179S, G52S, G89S	Cardiovascular phenotype, Congenital long QT syndrome, Cardiac arrhythmia, Long QT syndrome, not provided, Long QT syndrome 1	Pathogenic (Dec 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37890681.	NM_000218.3(KCNQ1):c.536G>C (p.Gly179Ala) GRCh37: Chr11:2591916 GRCh38: Chr11:2570686	KCNQ1	G179A, G52A, G89A	not provided	Likely pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 20087082.	NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter) GRCh37: Chr11:2591930-2591931 GRCh38: Chr11:2570700-2570701	KCNQ1	Y184, Y57	not provided, Long QT syndrome	Pathogenic (Oct 10, 2019)	criteria provided, multiple submitters, no conflicts
Select item 20081583.	NM_000218.3(KCNQ1):c.550T>G (p.Tyr184Asp) GRCh37: Chr11:2591930 GRCh38: Chr11:2570700	KCNQ1	Y184D, Y57D, Y94D	not provided	Likely pathogenic (May 2, 2016)	criteria provided, single submitter
Select item 6708184.	NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His) GRCh37: Chr11:2591930 GRCh38: Chr11:2570700	KCNQ1	Y184H, Y57H, Y94H	Long QT syndrome, not provided	Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5306485.	NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) GRCh37: Chr11:2591931 GRCh38: Chr11:2570701	KCNQ1	Y184S, Y57S, Y94S	Long QT syndrome 1, Cardiovascular phenotype	Pathogenic/Likely pathogenic (May 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 210249086.	NM_000218.3(KCNQ1):c.554_575del (p.Val185fs) GRCh37: Chr11:2591932-2591953 GRCh38: Chr11:2570702-2570723	KCNQ1	V185fs, V58fs	Long QT syndrome	Pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 98302287.	NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer) GRCh37: Chr11:2591932 GRCh38: Chr11:2570702	KCNQ1		Long QT syndrome 1	Likely pathogenic (Aug 27, 2020)	criteria provided, single submitter
Select item 43214988.	NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys) GRCh37: Chr11:2591936 GRCh38: Chr11:2570706	KCNQ1	G186C, G59C, G96C	Cardiovascular phenotype, not provided	Likely pathogenic (May 26, 2016)	criteria provided, multiple submitters, no conflicts
Select item 20796789.	NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) GRCh37: Chr11:2591937 GRCh38: Chr11:2570707	KCNQ1	G186D, G59D, G96D	Long QT syndrome, Congenital long QT syndrome, Cardiac arrhythmia, not provided	Likely pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20089490.	NM_000218.3(KCNQ1):c.557G>T (p.Gly186Val) GRCh37: Chr11:2591937 GRCh38: Chr11:2570707	KCNQ1	G186V, G59V, G96V	not provided	Pathogenic (Nov 28, 2011)	criteria provided, single submitter
Select item 5306991.	NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) GRCh37: Chr11:2591942-2591943 GRCh38: Chr11:2570712-2570713	KCNQ1	R190fs, R63fs	Long QT syndrome, Cardiovascular phenotype, not provided	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5306792.	NM_000218.3(KCNQ1):c.562del (p.Trp188fs) GRCh37: Chr11:2591942 GRCh38: Chr11:2570712	KCNQ1	W188fs, W61fs	Long QT syndrome 1/2, digenic	Pathogenic (Sep 1, 2006)	no assertion criteria provided
Select item 81732393.	NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs) GRCh37: Chr11:2591943-2591944 GRCh38: Chr11:2570713-2570714	KCNQ1	G62fs, G189fs	not provided, Long QT syndrome	Pathogenic (Jan 29, 2019)	criteria provided, multiple submitters, no conflicts
Select item 26373894.	NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) GRCh37: Chr11:2591944 GRCh38: Chr11:2570714	KCNQ1	W188, W61, W98*	Cardiovascular phenotype, Long QT syndrome, not provided	Pathogenic/Likely pathogenic (Nov 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 311495.	NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg) GRCh37: Chr11:2591945 GRCh38: Chr11:2570715	KCNQ1	G189R, G62R, G99R	not provided, Long QT syndrome	Pathogenic/Likely pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20088296.	NM_000218.3(KCNQ1):c.569_582del (p.Arg190fs) GRCh37: Chr11:2591948-2591961 GRCh38: Chr11:2570718-2570731	KCNQ1	R190fs, R63fs	not provided	Pathogenic (Jan 10, 2014)	criteria provided, single submitter
Select item 5307097.	NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) GRCh37: Chr11:2591948 GRCh38: Chr11:2570718	KCNQ1	R190W, R63W, R100W	Long QT syndrome 1, Cardiovascular phenotype, Long QT syndrome, not provided	Pathogenic/Likely pathogenic (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23722898.	NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro) GRCh37: Chr11:2591949 GRCh38: Chr11:2570719	KCNQ1	R190P, R63P, R100P	Long QT syndrome	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 6708499.	NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) GRCh37: Chr11:2591949 GRCh38: Chr11:2570719	KCNQ1	R190L, R63L, R100L	Cardiovascular phenotype, Cardiac arrhythmia, not provided, Long QT syndrome, Long QT syndrome 1	Pathogenic/Likely pathogenic (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3117100.	NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) GRCh37: Chr11:2591949 GRCh38: Chr11:2570719	KCNQ1	R190Q, R63Q, R100Q	Cardiac arrhythmia, Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 1	Pathogenic (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts

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