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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Long QT Syndrome (D008133)
..Starting node ..Romano-Ward Syndrome (D029597)
Child Nodes:
........Long Qt Syndrome 1/2 (C566006)
Sister Nodes:
..Andersen Syndrome (D050030)
..Jervell-Lange Nielsen Syndrome (D029593) 1
..Long Qt Syndrome 10 (C567514)
..Long Qt Syndrome 11 (C567513)
..Long Qt Syndrome 12 (C567842)
..LONG QT SYNDROME 13 (OMIM:613485)
..Long Qt Syndrome 2 (C563614)
..Long Qt Syndrome 2/3 (C565841)
..Long Qt Syndrome 2/5 (C566765)
..Long Qt Syndrome 3 (C565840)
..Long Qt Syndrome 3/6 (C566334)
..Long Qt Syndrome 4 (C563428)
..Long Qt Syndrome 5 (C566766)
..Long Qt Syndrome 6 (C566333)
..Long Qt Syndrome 9 (C567515)
..Long QT syndrome type 3 (C537034)
..Romano-Ward Syndrome (D029597) 1
..Timothy syndrome (C536962)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9899

Name:

Romano-Ward Syndrome

Definition:

A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.

Alternative IDs:

OMIM:192500

ParentIDs:

MESH:D008133

TreeNumbers:

C14.280.067.565.720 |C16.131.240.400.715.720 |C23.550.073.547.720

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Pathology (process)

Reference:

MedGen: D029597
MeSH: D029597
OMIM: 192500;

Genes: KCNQ1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000598	Abnormality of the ear
3	HP:0001425	Heterogeneous
4	HP:0001657	Prolonged QT interval
5	HP:0001645	Sudden cardiac death
6	HP:0001279	Syncope
7	HP:0001664	Torsade de pointes
8	HP:0001663	Ventricular fibrillation

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000218.2(KCNQ1):c.1893dupC (p.Arg632Glnfs)	-1	-	Pathogenic	397508105	RCV000003284; RCV000182288; RCV000046040;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2869095	2869095	NM_000218.2:c.1893dupC	NP_000209.2:p.Arg632Glnfs	NC_000011.9:g.2869095dupC	OMIM Allelic Variant:607542.0025	CN029864 115000 Cardiac arrhythmia; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1970A>G (p.Asn657Ser)	-1	-	Uncertain significance	552087428	RCV000203189;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007	11	2869172	2869172	NM_000218.2:c.1970A>G	NP_000209.2:p.Asn657Ser	NC_000011.9:g.2869172A>G	-	C0035828 192500 Long QT syndrome 1
NM_001743.5(CALM2):c.407A>C (p.Gln136Pro)	805	CALM2	Likely pathogenic;Pathogenic	398124649	RCV000143840; RCV000162070;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN228134,OMIM:616249	2	47388876	47388876	NM_001743.5:c.407A>C	NP_001734.1:p.Gln136Pro	NC_000002.11:g.47388876T>G	OMIM Allelic Variant:114182.0006	C0035828 192500 Long QT syndrome 1; CN228134 616249 Long QT syndrome 15
NM_001743.5(CALM2):c.400G>C (p.Asp134His)	805	CALM2	Likely pathogenic;Pathogenic	398124650	RCV000143839; RCV000162066;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN228134,OMIM:616249	2	47388883	47388883	NM_001743.5:c.400G>C	NP_001734.1:p.Asp134His	NC_000002.11:g.47388883C>G	OMIM Allelic Variant:114182.0002	C0035828 192500 Long QT syndrome 1; CN228134 616249 Long QT syndrome 15
NM_001743.5(CALM2):c.396T>G (p.Asp132Glu)	805	CALM2	Likely pathogenic;Pathogenic	398124648	RCV000143838; RCV000162069;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN228134,OMIM:616249	2	47388887	47388887	NM_001743.5:c.396T>G	NP_001734.1:p.Asp132Glu	NC_000002.11:g.47388887A>C	OMIM Allelic Variant:114182.0005	C0035828 192500 Long QT syndrome 1; CN228134 616249 Long QT syndrome 15
NM_001743.5(CALM2):c.293A>G (p.Asn98Ser)	805	CALM2	Likely pathogenic;Pathogenic	398124647	RCV000143836; RCV000162067;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN228134,OMIM:616249	2	47388990	47388990	NM_001743.5:c.293A>G	NP_001734.1:p.Asn98Ser	NC_000002.11:g.47388990T>A,NC_000002.11:g.47388990T>C	OMIM Allelic Variant:114182.0003	C0035828 192500 Long QT syndrome 1; CN228134 616249 Long QT syndrome 15
NM_001743.5(CALM2):c.293A>T (p.Asn98Ile)	805	CALM2	Likely pathogenic;Pathogenic	398124647	RCV000143837; RCV000162068;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN228134,OMIM:616249	2	47388990	47388990	NM_001743.5:c.293A>T	NP_001734.1:p.Asn98Ile	NC_000002.11:g.47388990T>A,NC_000002.11:g.47388990T>C	OMIM Allelic Variant:114182.0004	C0035828 192500 Long QT syndrome 1; CN228134 616249 Long QT syndrome 15
NM_000218.2(KCNQ1):c.211_219delGCCGCGCCC (p.Ala71_Pro73del)	3784	KCNQ1	Pathogenic	587776555	RCV000003278;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007	11	2466539	2466547	NM_000218.2:c.211_219delGCCGCGCCC	NP_000209.2:p.Ala71_Pro73del		OMIM Allelic Variant:607542.0019	C0035828 192500 Long QT syndrome 1
NM_000218.2(KCNQ1):c.350C>T (p.Pro117Leu)	3784	KCNQ1	Pathogenic	120074191	RCV000003290; RCV000046051; RCV000057662;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655	11	2466678	2466678	NM_000218.2:c.350C>T	NP_000209.2:p.Pro117Leu	NC_000011.9:g.2466678C>T	OMIM Allelic Variant:607542.0030	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.364dupT (p.Cys122Leufs)	3784	KCNQ1	Pathogenic	794728583	RCV000193564; RCV000182336;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN029864,OMIM:115000	11	2466692	2466692	NM_000218.2:c.364dupT	NP_000209.2:p.Cys122Leufs	NC_000011.9:g.2466692dupT	-	CN029864 115000 Cardiac arrhythmia; C0035828 192500 Long QT syndrome 1
NM_000218.2(KCNQ1):c.532G>C (p.Ala178Pro)	3784	KCNQ1	Pathogenic	120074177	RCV000003260; RCV000046076; RCV000057693;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655	11	2591912	2591912	NM_000218.2:c.532G>C	NP_000209.2:p.Ala178Pro	NC_000011.9:g.2591912G>A,NC_000011.9:g.2591912G>C	OMIM Allelic Variant:607542.0002	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.533delCinsGG (p.Ala178Glyfs)	3784	KCNQ1	Pathogenic	397508115	RCV000003297; RCV000046077;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN177655	11	2591913	2591913	NM_000218.2:c.533delCinsGG	NP_000209.2:p.Ala178Glyfs	NC_000011.9:g.2591913delCinsGG	OMIM Allelic Variant:607542.0036	C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.565G>A (p.Gly189Arg)	3784	KCNQ1	Pathogenic	104894252	RCV000003261; RCV000046083; RCV000057702;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655	11	2591945	2591945	NM_000218.2:c.565G>A	NP_000209.2:p.Gly189Arg	NC_000011.9:g.2591945G>A,NC_000011.9:g.2591945G>C	OMIM Allelic Variant:607542.0003	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.569G>A (p.Arg190Gln)	3784	KCNQ1	Pathogenic	120074178	RCV000003264; RCV000182086; RCV000046088; RCV000057706;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655; MedGen:CN221809	11	2591949	2591949	NM_000218.2:c.569G>A	NP_000209.2:p.Arg190Gln	NC_000011.9:g.2591949G>A,NC_000011.9:g.2591949G>T	OMIM Allelic Variant:607542.0004	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.613G>A (p.Val205Met)	3784	KCNQ1	Pathogenic	151344631	RCV000030815; RCV000148547; RCV000057723; RCV000046099; RCV000119056;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655; MedGen:CN221809	11	2592563	2592563	NM_000218.2:c.613G>A	NP_000209.2:p.Val205Met	NC_000011.9:g.2592563G>A	OMIM Allelic Variant:607542.0040	C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.692G>A (p.Arg231His)	3784	KCNQ1	Pathogenic	199472709	RCV000115008; RCV000115007; RCV000046107; RCV000182101; RCV000057734;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1837014,OMIM:607554; MedGen:CN221809	11	2593251	2593251	NM_000218.2:c.692G>A	NP_000209.2:p.Arg231His	NC_000011.9:g.2593251G>A	OMIM Allelic Variant:607542.0043	C1837014 607554 Atrial fibrillation, familial, 3; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met)	3784	KCNQ1	Likely pathogenic;Pathogenic	120074179	RCV000003265; RCV000190212; RCV000182109; RCV000057749; RCV000003296;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN221809	11	2593319	2593319	NM_000218.2:c.760G>A	NP_000209.2:p.Val254Met	NC_000011.9:g.2593319G>A,NC_000011.9:g.2593319G>C,NC_000011.9:g.2593319G>T	OMIM Allelic Variant:607542.0005,OMIM Allelic Variant:607542.0035	C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met)	3784	KCNQ1	Likely pathogenic;Pathogenic	120074179	RCV000003265; RCV000190212; RCV000182109; RCV000057749; RCV000003296;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN221809	11	2593319	2593319	NM_000218.2:c.760G>A	NP_000209.2:p.Val254Met	NC_000011.9:g.2593319G>A,NC_000011.9:g.2593319G>C,NC_000011.9:g.2593319G>T	OMIM Allelic Variant:607542.0005,OMIM Allelic Variant:607542.0035	C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.805G>A (p.Gly269Ser)	3784	KCNQ1	Pathogenic	120074193	RCV000003294; RCV000182118; RCV000057765;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN221809	11	2594100	2594100	NM_000218.2:c.805G>A	NP_000209.2:p.Gly269Ser	NC_000011.9:g.2594100G>A,NC_000011.9:g.2594100G>C	OMIM Allelic Variant:607542.0033	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.806G>A (p.Gly269Asp)	3784	KCNQ1	Pathogenic	120074194	RCV000003295; RCV000182119; RCV000046133; RCV000057766;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655; MedGen:CN221809	11	2594101	2594101	NM_000218.2:c.806G>A	NP_000209.2:p.Gly269Asp	NC_000011.9:g.2594101G>A,NC_000011.9:g.2594101G>T	OMIM Allelic Variant:607542.0034	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.817C>T (p.Leu273Phe)	3784	KCNQ1	Pathogenic	120074180	RCV000003266; RCV000182120; RCV000046135; RCV000057769;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655; MedGen:CN221809	11	2594112	2594112	NM_000218.2:c.817C>T	NP_000209.2:p.Leu273Phe	NC_000011.9:g.2594112C>T	OMIM Allelic Variant:607542.0006	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr)	3784	KCNQ1	Pathogenic;Uncertain significance	120074187	RCV000003276; RCV000057789; RCV000182128;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN169374; MedGen:CN221809	11	2594193	2594193	NM_000218.2:c.898G>A	NP_000209.2:p.Ala300Thr	NC_000011.9:g.2594193G>A	OMIM Allelic Variant:607542.0017	C0035828 192500 Long QT syndrome 1; CN221809 not provided; CN169374 not specified
NM_000218.2(KCNQ1):c.916G>A (p.Gly306Arg)	3784	KCNQ1	Pathogenic	120074181	RCV000003262; RCV000182132; RCV000046152; RCV000057797;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655; MedGen:CN221809	11	2594211	2594211	NM_000218.2:c.916G>A	NP_000209.2:p.Gly306Arg	NC_000011.9:g.2594211G>A,NC_000011.9:g.2594211G>C	OMIM Allelic Variant:607542.0007	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.922-1G>C	3784	KCNQ1	Pathogenic	387906290	RCV000003282; RCV000046158;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN177655	11	2604664	2604664	NM_000218.2:c.922-1G>C		NC_000011.9:g.2604664G>C	OMIM Allelic Variant:607542.0023	C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.935C>T (p.Thr312Ile)	3784	KCNQ1	Pathogenic	120074182	RCV000003263; RCV000182136; RCV000046165; RCV000057808;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655; MedGen:CN221809	11	2604678	2604678	NM_000218.2:c.935C>T	NP_000209.2:p.Thr312Ile	NC_000011.9:g.2604678C>T	OMIM Allelic Variant:607542.0008	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.940G>A (p.Gly314Ser)	3784	KCNQ1	Pathogenic	120074184	RCV000003271; RCV000182137; RCV000046167; RCV000057810;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655; MedGen:CN221809	11	2604683	2604683	NM_000218.2:c.940G>A	NP_000209.2:p.Gly314Ser	NC_000011.9:g.2604683G>A,NC_000011.9:g.2604683G>C,NC_000011.9:g.2604683G>T	OMIM Allelic Variant:607542.0012	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.1022C>A (p.Ala341Glu)	3784	KCNQ1	Pathogenic	12720459	RCV000003267; RCV000045932; RCV000182154; RCV000003268; RCV000057526;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C3150944; MedGen:CN221809	11	2604765	2604765	NM_000218.2:c.1022C>A	NP_000209.2:p.Ala341Glu	NC_000011.9:g.2604765C>A,NC_000011.9:g.2604765C>G,NC_000011.9:g.2604765C>T	OMIM Allelic Variant:607542.0009	C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; C3150944 Long QT syndrome 1/2, digenic; CN221809 not provided
NM_000218.2(KCNQ1):c.1022C>T (p.Ala341Val)	3784	KCNQ1	Pathogenic;Uncertain significance	12720459	RCV000003269; RCV000171124; RCV000057528; RCV000045933;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN177655; MedGen:CN221809	11	2604765	2604765	NM_000218.2:c.1022C>T	NP_000209.2:p.Ala341Val	NC_000011.9:g.2604765C>A,NC_000011.9:g.2604765C>G,NC_000011.9:g.2604765C>T	OMIM Allelic Variant:607542.0010	C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.1032G>A (p.Ala344=)	3784	KCNQ1	Pathogenic	1800171	RCV000003283; RCV000045941; RCV000182159;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:CN221809	11	2604775	2604775	NM_000218.2:c.1032G>A	NP_000209.2:p.Ala344=	NC_000011.9:g.2604775G>A,NC_000011.9:g.2604775G>C	OMIM Allelic Variant:607542.0024	C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.1034G>A (p.Gly345Glu)	3784	KCNQ1	Pathogenic	120074183	RCV000003270; RCV000045944; RCV000057536;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655	11	2606443	2606443	NM_000218.2:c.1034G>A	NP_000209.2:p.Gly345Glu	NC_000011.9:g.2606443G>A	OMIM Allelic Variant:607542.0011	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp)	3784	KCNQ1	Likely benign;Likely pathogenic;Pathogenic	199472776	RCV000203070; RCV000182181; RCV000148545; RCV000045974; RCV000057571;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2608860	2608860	NM_000218.2:c.1189C>T	NP_000209.2:p.Arg397Trp	NC_000011.9:g.2608860C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1249G>A (p.Val417Met)	3784	KCNQ1	Pathogenic	267607197	RCV000003296;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007	11	2608920	2608920	NM_000218.2:c.1249G>A	NP_000209.2:p.Val417Met	NC_000011.9:g.2608920G>A	OMIM Allelic Variant:607542.0035	C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu)	3784	KCNQ1	Pathogenic	199473480	RCV000174453; RCV000182209; RCV000046008; RCV000057608;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN177655; MedGen:CN221809	11	2797236	2797236	NM_000218.2:c.1637C>T	NP_000209.2:p.Ser546Leu	NC_000011.9:g.2797236C>T	-	C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.1663C>T (p.Arg555Cys)	3784	KCNQ1	Pathogenic	120074185	RCV000003274; RCV000046011; RCV000182211; RCV000057613;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN221809	11	2797262	2797262	NM_000218.2:c.1663C>T	NP_000209.2:p.Arg555Cys	NC_000011.9:g.2797262C>A,NC_000011.9:g.2797262C>T	OMIM Allelic Variant:607542.0015	C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; CN221809 not provided
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys)	3784	KCNQ1	Pathogenic;risk factor	17221854	RCV000003291; RCV000003292; RCV000182219; RCV000046024; RCV000057628;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1843738; MedGen:CN177655; MedGen:CN221809	11	2799220	2799220	NM_000218.2:c.1747C>T	NP_000209.2:p.Arg583Cys	NC_000011.9:g.2799220C>T	OMIM Allelic Variant:607542.0031	C1843738 Acquired susceptibility to long QT syndrome 1; C1141890 Congenital long QT syndrome; C0035828 192500 Long QT syndrome 1; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp)	3784	KCNQ1	Pathogenic	120074190	RCV000003288; RCV000003289; RCV000182223; RCV000057633;	N	MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN034131,OMIM:220400; MedGen:CN221809	11	2799239	2799239	NM_000218.2:c.1766G>A	NP_000209.2:p.Gly589Asp	NC_000011.9:g.2799239G>A	OMIM Allelic Variant:607542.0029	C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; C0035828 192500 Long QT syndrome 1; CN221809 not provided