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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: Heart Diseases (D006331)
Parent Node: Pathologic Processes (D010335)
..Starting node ..Arrhythmias, Cardiac (D001145)
Child Nodes:
........Arrhythmia, Sinus (D001146) 5
........Atrial Fibrillation (D001281) 8
........Atrial Flutter (D001282)
........Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
........Bradycardia (D001919)
........Brugada Syndrome (D053840) 9
........Cardiac Arrhythmia, Ankyrin-B-Related (C566996)
........Cardiac Complexes, Premature (D005117) 4
........Cardiac Conduction Defect (C562490)
........Cardiac Conduction Defect, Nonprogressive (C566186)
........Commotio Cordis (D056104)
........Heart Block (D006327) 19
........Long QT Syndrome (D008133) 20
........Parasystole (D017574)
........Pre-Excitation Syndromes (D011226) 3
........QT INTERVAL, VARIATION IN (OMIM:610141)
........Short Qt Syndrome (C580439)
........Short QT Syndrome 1 (C566506)
........Short QT Syndrome 2 (C566505)
........Short QT Syndrome 3 (C566504)
........Simpson-Golabi-Behmel syndrome (C537340)
........Tachycardia (D013610) 20
........Ventricular Fibrillation (D014693) 3
........Ventricular Flutter (D054141)
........Woodhouse Sakati syndrome (C536742)
Sister Nodes:
..Acantholysis (D000051) 1
..Arrhythmias, Cardiac (D001145) 112
..Ascites (D001201)
..Atrial Remodeling (D064752)
..Azotemia (D053099)
..Cardiotoxicity (D066126)
..Channelopathies (D053447) 1
..Chromosome Aberrations (D002869) 271
..Death (D003643) 27
..Dehydration (D003681)
..Delayed Graft Function (D051799)
..Disease (D004194) 1
..Disease Attributes (D020969) 171
..Dysbiosis (D064806)
..Emphysema (D004646) 6
..Extravasation of Diagnostic and Therapeutic Materials (D005119)
..Femoracetabular Impingement (D057925)
..Fibrosis (D005355) 16
..Genomic Instability (D042822) 5
..Gliosis (D005911) 1
..Granuloma (D006099) 17
..Granulomatosis, Orofacial (D051261)
..Growth Disorders (D006130) 191
..Hemolysis (D006461) 2
..Hemorrhage (D006470) 84
..Hyperammonemia (D022124) 3
..Hyperamylasemia (D034321)
..Hyperbilirubinemia (D006932) 13
..Hyperplasia (D006965) 4
..Hyperuricemia (D033461) 8
..Hypovolemia (D020896)
..Inflammation (D007249) 52
..Intraoperative Complications (D007431) 15
..Ischemia (D007511) 3
..Leukoaraiosis (D049292)
..Leukocytosis (D007964) 6
..Lithiasis (D020347)
..Malacoplakia (D008287) 1
..Menstruation Disturbances (D008599) 10
..Metaplasia (D008679) 4
..Muscle Weakness (D018908) 5
..Necrosis (D009336) 12
..Neointima (D058426)
..Neoplastic Processes (D009385) 18
..Nerve Degeneration (D009410) 7
..Ochronosis (D009794) 2
..Ossification, Heterotopic (D009999) 7
..Polydipsia (D059606) 1
..Postoperative Complications (D011183) 42
..Protein Aggregation, Pathological (D066263)
..Respiratory Aspiration (D053120) 1
..Retropneumoperitoneum (D012188)
..Sclerosis (D012598) 8
..Shock (D012769) 18
..Teratogenesis (D064793)
..Ulcer (D014456) 1
..Vascular Remodeling (D066253)
..Yang Deficiency (D016711)
..Yin Deficiency (D016710)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

861

Name:

Arrhythmias, Cardiac

Definition:

Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.

Alternative IDs:

OMIM:115000

ParentIDs:

MESH:D006331|MESH:D010335

TreeNumbers:

C14.280.067 |C23.550.073

Synonyms:

Slim Mappings:

Cardiovascular disease|Pathology (process)

Reference:

MedGen: D001145
MeSH: D001145
OMIM: 115000;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000707	Abnormality of the nervous system
3	HP:0006696	Polymorphic and polytopic ventricular extrasystoles
4	HP:0001699	Sudden death

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.1514+18C>T	-1	-	Benign	12577654	RCV000030107;	N	MedGen:CN029864,OMIM:115000	11	2683329	2683329	NM_000218.2:c.1514+18C>T		NC_000011.9:g.2683329C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000719.6(CACNA1C):c.5680+15C>T	-1	-	Benign	114036394	RCV000029421; RCV000079304;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	12	2795023	2795023	NM_000719.6:c.5680+15C>T		NC_000012.11:g.2795023C>T	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_000719.6(CACNA1C):c.6031G>A (p.Val2011Ile)	-1	-	Likely pathogenic	193922615	RCV000029422;	N	MedGen:CN029864,OMIM:115000	12	2797859	2797859	NM_000719.6:c.6031G>A	NP_000710.5:p.Val2011Ile	NC_000012.11:g.2797859G>A	-	CN029864 115000 Cardiac arrhythmia
NM_000719.6(CACNA1C):c.6307G>T (p.Ala2103Ser)	-1	-	Likely benign;Likely pathogenic	193922616	RCV000029423; RCV000170764;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	12	2800255	2800255	NM_000719.6:c.6307G>T	NP_000710.5:p.Ala2103Ser	NC_000012.11:g.2800255G>T	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_000218.2(KCNQ1):c.1842_1844delCCA (p.His614del)	-1	-	Pathogenic	397508101	RCV000182286; RCV000046033;	N	MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2869044	2869046	NM_000218.2:c.1842_1844delCCA	NP_000209.2:p.His614del	NC_000011.9:g.2869044_2869046delCCA	-	CN029864 115000 Cardiac arrhythmia; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1892_1911del20 (p.Pro631Hisfs)	-1	-	Pathogenic	397508103	RCV000003285; RCV000182287; RCV000046038;	N	MedGen:CN029864,OMIM:115000; MedGen:CN034131,OMIM:220400; MedGen:CN177655	11	2869094	2869113	NM_000218.2:c.1892_1911del20	NP_000209.2:p.Pro631Hisfs	NC_000011.9:g.2869094_2869113del20	OMIM Allelic Variant:607542.0026	CN029864 115000 Cardiac arrhythmia; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
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.1903G>A (p.Gly635Arg)	-1	-	Likely pathogenic;Pathogenic	199473484	RCV000182236; RCV000057649;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	11	2869105	2869105	NM_000218.2:c.1903G>A	NP_000209.2:p.Gly635Arg	NC_000011.9:g.2869105G>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser)	-1	-	Benign	1800172	RCV000030109; RCV000057650; RCV000150875;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374; MedGen:CN221809	11	2869129	2869129	NM_000218.2:c.1927G>A	NP_000209.2:p.Gly643Ser	NC_000011.9:g.2869129G>A	-	CN029864 115000 Cardiac arrhythmia; CN221809 not provided; CN169374 not specified
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile)	-1	-	Benign	34150427	RCV000030110; RCV000057651; RCV000216406;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374; MedGen:CN221809	11	2869144	2869144	NM_000218.2:c.1942G>A	NP_000209.2:p.Val648Ile	NC_000011.9:g.2869144G>A	-	CN029864 115000 Cardiac arrhythmia; CN221809 not provided; CN169374 not specified
NM_000218.2(KCNQ1):c.1986C>G (p.Tyr662Ter)	-1	-	Pathogenic	11601907	RCV000182237;	N	MedGen:CN029864,OMIM:115000	11	2869188	2869188	NM_000218.2:c.1986C>G	NP_000209.2:p.Tyr662Ter	NC_000011.9:g.2869188C>G,NC_000011.9:g.2869188C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.2025dupG (p.Ser676Valfs)	-1	-	Pathogenic	397508106	RCV000182289; RCV000046042;	N	MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2869227	2869227	NM_000218.2:c.2025dupG	NP_000209.2:p.Ser676Valfs	NC_000011.9:g.2869227dupG	-	CN029864 115000 Cardiac arrhythmia; CN177655 Long QT syndrome, LQT1 subtype
NM_006172.3(NPPA):c.123+16C>T	-1	-	Benign	5064	RCV000030342;	N	MedGen:CN029864,OMIM:115000	1	11907603	11907603	NM_006172.3:c.123+16C>T		NC_000001.10:g.11907603G>A	-	CN029864 115000 Cardiac arrhythmia
NM_001943.3(DSG2):c.3135A>C (p.Thr1045=)	-1	-	Benign	8095704	RCV000029671; RCV000037298;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	18	29126484	29126484	NM_001943.3:c.3135A>C	NP_001934.2:p.Thr1045=	NC_000018.9:g.29126484A>C	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_001677.3(ATP1B1):c.571C>T (p.Pro191Ser)	-1	-	Uncertain significance	267598155	RCV000029347;	N	MedGen:CN029864,OMIM:115000	1	169099251	169099251	NM_001677.3:c.571C>T	NP_001668.1:p.Pro191Ser	NC_000001.10:g.169099251C>T	-	CN029864 115000 Cardiac arrhythmia
NM_005751.4(AKAP9):c.610G>A (p.Asp204Asn)	10142	AKAP9	Likely benign	148920964	RCV000185489; RCV000170641;	N	MedGen:CN029864,OMIM:115000; MedGen:CN221809	7	91623968	91623968	NM_005751.4:c.610G>A	NP_005742.4:p.Asp204Asn	NC_000007.13:g.91623968G>A	-	CN029864 115000 Cardiac arrhythmia; CN221809 not provided
NM_005751.4(AKAP9):c.4004_4006dupAAC (p.Lys1335_Leu1336insGln)	10142	AKAP9	Benign	397825978	RCV000185485; RCV000170635;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	7	91652179	91652181	NM_005751.4:c.4004_4006dupAAC	NP_005742.4:p.Lys1335_Leu1336insGln	NC_000007.13:g.91652179_91652181dupAAC	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_005751.4(AKAP9):c.4693-11delT	10142	AKAP9	Benign	786205706	RCV000170608;	N	MedGen:CN029864,OMIM:115000	7	91669977	91669977	NM_005751.4:c.4693-11delT		NC_000007.13:g.91669977delT	-	CN029864 115000 Cardiac arrhythmia
NM_005751.4(AKAP9):c.4825_4826delAGinsCA (p.Arg1609Gln)	10142	AKAP9	Likely benign;Uncertain significance	786205707	RCV000170610; RCV000208405;	N	EFO:EFO_0004287,MedGen:C0042510,SNOMED CT:71908006; MedGen:CN029864,OMIM:115000	7	91670120	91670121	NM_005751.4:c.4825_4826delAGinsCA	NP_005742.4:p.Arg1609Gln	NC_000007.13:g.91670120_91670121delAGinsCA	-	CN029864 115000 Cardiac arrhythmia; C0042510 Ventricular fibrillation
NM_147185.2(AKAP9):c.4837A>G (p.Met1613Val)	10142	AKAP9	Likely benign;Uncertain significance	193922723	RCV000029318; RCV000202769;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	7	91670132	91670132	NM_147185.2:c.4837A>G	NP_671714.1:p.Met1613Val	NC_000007.13:g.91670132A>G	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_005751.4(AKAP9):c.5977C>T (p.Gln1993Ter)	10142	AKAP9	Uncertain significance	786205714	RCV000170643;	N	MedGen:CN029864,OMIM:115000	7	91691800	91691800	NM_005751.4:c.5977C>T	NP_005742.4:p.Gln1993Ter	NC_000007.13:g.91691800C>T	-	CN029864 115000 Cardiac arrhythmia
NM_005751.4(AKAP9):c.7034_7036delGAG (p.Arg2345_Glu2346delinsLys)	10142	AKAP9	Likely benign	786205709	RCV000170616;	N	MedGen:CN029864,OMIM:115000	7	91708481	91708483	NM_005751.4:c.7034_7036delGAG	NP_005742.4:p.Arg2345_Glu2346delinsLys	NC_000007.13:g.91708481_91708483delGAG	-	CN029864 115000 Cardiac arrhythmia
NM_005751.4(AKAP9):c.7074A>G (p.Lys2358=)	10142	AKAP9	Benign	150968594	RCV000123581;	N	MedGen:CN029864,OMIM:115000	7	91708521	91708521	NM_005751.4:c.7074A>G	NP_005742.4:p.Lys2358=	NC_000007.13:g.91708521A>G	-	CN029864 115000 Cardiac arrhythmia
NM_005751.4(AKAP9):c.8212G>C (p.Asp2738His)	10142	AKAP9	Likely benign	773428761	RCV000170639;	N	MedGen:CN029864,OMIM:115000	7	91712535	91712535	NM_005751.4:c.8212G>C	NP_005742.4:p.Asp2738His	NC_000007.13:g.91712535G>C	-	CN029864 115000 Cardiac arrhythmia
NM_005751.4(AKAP9):c.8831A>G (p.Lys2944Arg)	10142	AKAP9	Uncertain significance	786205715	RCV000170645;	N	MedGen:CN029864,OMIM:115000	7	91714253	91714253	NM_005751.4:c.8831A>G	NP_005742.4:p.Lys2944Arg	NC_000007.13:g.91714253A>G	-	CN029864 115000 Cardiac arrhythmia
NM_005751.4(AKAP9):c.10118C>A (p.Ser3373Tyr)	10142	AKAP9	Likely benign	140470576	RCV000185486; RCV000170637;	N	MedGen:CN029864,OMIM:115000; MedGen:CN221809	7	91726391	91726391	NM_005751.4:c.10118C>A	NP_005742.4:p.Ser3373Tyr	NC_000007.13:g.91726391C>A	-	CN029864 115000 Cardiac arrhythmia; CN221809 not provided
NM_001148.4(ANK2):c.-131714G>A	287	ANK2	Uncertain significance	786205717	RCV000170666;	N	MedGen:CN029864,OMIM:115000	4	113839171	113839171	NM_001148.4:c.-131714G>A		NC_000004.11:g.113839171G>A	-	CN029864 115000 Cardiac arrhythmia
NM_001148.4(ANK2):c.297C>T (p.Thr99=)	287	ANK2	Benign	587780851	RCV000123631;	N	MedGen:CN029864,OMIM:115000	4	114120178	114120178	NM_001148.4:c.297C>T	NP_001139.3:p.Thr99=	NC_000004.11:g.114120178C>T	-	CN029864 115000 Cardiac arrhythmia
NM_001127493.1(ANK2):c.321+19C>T	287	ANK2	Benign	45502093	RCV000029336;	N	MedGen:CN029864,OMIM:115000	4	114120284	114120284	NM_001127493.1:c.321+19C>T		NC_000004.11:g.114120284C>T	-	CN029864 115000 Cardiac arrhythmia
NM_001148.4(ANK2):c.1397C>T (p.Thr466Met)	287	ANK2	Uncertain significance	786205722	RCV000170676;	N	MedGen:CN029864,OMIM:115000	4	114186063	114186063	NM_001148.4:c.1397C>T	NP_001139.3:p.Thr466Met	NC_000004.11:g.114186063C>T	-	CN029864 115000 Cardiac arrhythmia
NM_001127493.1(ANK2):c.2840G>A (p.Arg947His)	287	ANK2	Uncertain significance	373770811	RCV000170689;	N	MedGen:CN029864,OMIM:115000	4	114244917	114244917	NM_001127493.1:c.2840G>A	NP_001120965.1:p.Arg947His	NC_000004.11:g.114244917G>A	-	CN029864 115000 Cardiac arrhythmia
NM_001148.4(ANK2):c.3143C>T (p.Thr1048Met)	287	ANK2	Uncertain significance	786205735	RCV000170734;	N	MedGen:CN029864,OMIM:115000	4	114253145	114253145	NM_001148.4:c.3143C>T	NP_001139.3:p.Thr1048Met	NC_000004.11:g.114253145C>T	-	CN029864 115000 Cardiac arrhythmia
NM_001127493.1(ANK2):c.3483A>G (p.Val1161=)	287	ANK2	Benign	35336373	RCV000029334;	N	MedGen:CN029864,OMIM:115000	4	114257132	114257132	NM_001127493.1:c.3483A>G	NP_001120965.1:p.Val1161=	NC_000004.11:g.114257132A>G	-	CN029864 115000 Cardiac arrhythmia
NM_001127493.1(ANK2):c.3769+18G>A	287	ANK2	Uncertain significance	66792339	RCV000029335;	N	MedGen:CN029864,OMIM:115000	4	114257955	114257955	NM_001127493.1:c.3769+18G>A		NC_000004.11:g.114257955G>A	-	CN029864 115000 Cardiac arrhythmia
NM_001148.4(ANK2):c.4835C>T (p.Thr1612Ile)	287	ANK2	Uncertain significance	765274871	RCV000170703; RCV000203177;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	4	114274609	114274609	NM_001148.4:c.4835C>T	NP_001139.3:p.Thr1612Ile	NC_000004.11:g.114274609C>T	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_001127493.1(ANK2):c.4399+4084G>A	287	ANK2	Likely benign	143404578	RCV000029337;	N	MedGen:CN029864,OMIM:115000	4	114275489	114275489	NM_001127493.1:c.4399+4084G>A		NC_000004.11:g.114275489G>A	-	CN029864 115000 Cardiac arrhythmia
NM_001148.4(ANK2):c.7106T>C (p.Val2369Ala)	287	ANK2	Benign;Likely benign	28377576	RCV000029338; RCV000171790;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	4	114276880	114276880	NM_001148.4:c.7106T>C	NP_001139.3:p.Val2369Ala	NC_000004.11:g.114276880T>C	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_001127493.1(ANK2):c.4400-4039G>A	287	ANK2	Likely pathogenic	193922637	RCV000029339;	N	MedGen:CN029864,OMIM:115000	4	114277940	114277940	NM_001127493.1:c.4400-4039G>A		NC_000004.11:g.114277940G>A	-	CN029864 115000 Cardiac arrhythmia
NM_001148.4(ANK2):c.9854T>C (p.Ile3285Thr)	287	ANK2	Benign;Likely benign	36210417	RCV000170656; RCV000206487; RCV000171794;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:CN029864,OMIM:115000; MedGen:CN169374	4	114279628	114279628	NM_001148.4:c.9854T>C	NP_001139.3:p.Ile3285Thr	NC_000004.11:g.114279628T>C	-	CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome; CN169374 not specified
NM_001148.4(ANK2):c.10858T>A (p.Trp3620Arg)	287	ANK2	Pathogenic;Uncertain significance	199473346	RCV000170707; RCV000058341;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	4	114284595	114284595	NM_001148.4:c.10858T>A	NP_001139.3:p.Trp3620Arg	NC_000004.11:g.114284595T>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_001148.4(ANK2):c.10889-17T>A	287	ANK2	Benign	776522358	RCV000170659;	N	MedGen:CN029864,OMIM:115000	4	114286178	114286178	NM_001148.4:c.10889-17T>A		NC_000004.11:g.114286178T>A	-	CN029864 115000 Cardiac arrhythmia
NM_001148.4(ANK2):c.11218C>A (p.Leu3740Ile)	287	ANK2	Benign;Pathogenic;Uncertain significance	35530544	RCV000019675; RCV000171797; RCV000058346;	N	MedGen:C1970119,OMIM:600919; MedGen:CN029864,OMIM:115000; MedGen:CN221809	4	114288907	114288907	NM_001148.4:c.11218C>A	NP_001139.3:p.Leu3740Ile	NC_000004.11:g.114288907C>A	OMIM Allelic Variant:106410.0003	CN029864 115000 Cardiac arrhythmia; C1970119 600919 Cardiac arrhythmia, ankyrin B-related; CN221809 not provided
NM_001148.4(ANK2):c.11229A>T (p.Gln3743His)	287	ANK2	Uncertain significance	786205738	RCV000170741;	N	MedGen:CN029864,OMIM:115000	4	114288918	114288918	NM_001148.4:c.11229A>T	NP_001139.3:p.Gln3743His	NC_000004.11:g.114288918A>T	-	CN029864 115000 Cardiac arrhythmia
NM_001148.4(ANK2):c.11465G>C (p.Gly3822Ala)	287	ANK2	Likely benign	79577190	RCV000170661;	N	MedGen:CN029864,OMIM:115000	4	114290816	114290816	NM_001148.4:c.11465G>C	NP_001139.3:p.Gly3822Ala	NC_000004.11:g.114290816G>C	-	CN029864 115000 Cardiac arrhythmia
NM_001148.4(ANK2):c.11509G>C (p.Glu3837Gln)	287	ANK2	Uncertain significance	766615247	RCV000170717;	N	MedGen:CN029864,OMIM:115000	4	114290860	114290860	NM_001148.4:c.11509G>C	NP_001139.3:p.Glu3837Gln	NC_000004.11:g.114290860G>C	-	CN029864 115000 Cardiac arrhythmia
NM_001148.4(ANK2):c.11683G>C (p.Val3895Leu)	287	ANK2	Uncertain significance	72556370	RCV000171608;	N	MedGen:CN029864,OMIM:115000	4	114294318	114294318	NM_001148.4:c.11683G>C	NP_001139.3:p.Val3895Leu	NC_000004.11:g.114294318G>A,NC_000004.11:g.114294318G>C	-	CN029864 115000 Cardiac arrhythmia
NM_000719.6(CACNA1C):c.171C>T (p.Asp57=)	775	CACNA1C	Benign	34419050	RCV000029419; RCV000205452; RCV000079279;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:CN029864,OMIM:115000; MedGen:CN169374	12	2224511	2224511	NM_000719.6:c.171C>T	NP_000710.5:p.Asp57=	NC_000012.11:g.2224511C>T	-	CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome; CN169374 not specified
NM_000719.6(CACNA1C):c.372-15G>A	775	CACNA1C	Benign	55792866	RCV000029420;	N	MedGen:CN029864,OMIM:115000	12	2229476	2229476	NM_000719.6:c.372-15G>A		NC_000012.11:g.2229476G>A	-	CN029864 115000 Cardiac arrhythmia
NM_000724.3(CACNB2):c.-110391_-110390insG	783	CACNB2	Benign	769211879	RCV000170852;	N	MedGen:CN029864,OMIM:115000	10	18439808	18439809	NM_000724.3:c.-110391_-110390insG		NC_000010.10:g.18439808_18439809insG,NC_000010.10:g.18439808_18439809insTTTTTTG	-	CN029864 115000 Cardiac arrhythmia
NM_201596.2(CACNB2):c.133G>A (p.Gly45Arg)	783	CACNB2	Uncertain significance	786205785	RCV000170863;	N	MedGen:CN029864,OMIM:115000	10	18439824	18439824	NM_201596.2:c.133G>A	NP_963890.2:p.Gly45Arg	NC_000010.10:g.18439824G>A	-	CN029864 115000 Cardiac arrhythmia
NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTA	783	CACNB2	Likely benign;Uncertain significance	786205266	RCV000170857; RCV000208344; RCV000171627;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:CN029864,OMIM:115000; MedGen:CN221809	10	18823160	18823163	NM_201590.2:c.1044+4_1044+7dupAGTA			-	CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome; CN221809 not provided
NM_000724.3(CACNB2):c.1346C>T (p.Thr449Ile)	783	CACNB2	Likely benign;Uncertain significance	143326262	RCV000185500; RCV000148450; RCV000170869;	N	MedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:CN029864,OMIM:115000; MedGen:CN221809	10	18828181	18828181	NM_000724.3:c.1346C>T	NP_000715.2:p.Thr449Ile	NC_000010.10:g.18828181C>T	-	C1142166 Brugada syndrome; CN029864 115000 Cardiac arrhythmia; CN221809 not provided
NM_000724.3(CACNB2):c.1810C>T (p.Arg604Cys)	783	CACNB2	Likely benign	77141223	RCV000170859;	N	MedGen:CN029864,OMIM:115000	10	18828645	18828645	NM_000724.3:c.1810C>T	NP_000715.2:p.Arg604Cys	NC_000010.10:g.18828645C>T	-	CN029864 115000 Cardiac arrhythmia
NM_001232.3(CASQ2):c.731A>G (p.His244Arg)	845	CASQ2	Benign;Uncertain significance	28730716	RCV000029424; RCV000037146; RCV000217394;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	1	116269619	116269619	NM_001232.3:c.731A>G	NP_001223.2:p.His244Arg	NC_000001.10:g.116269619T>C	HGMD:CM106915	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_001232.3(CASQ2):c.731A>G (p.His244Arg)	845	CASQ2	Benign;Uncertain significance	28730716	RCV000029424; RCV000037146; RCV000217394;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	1	116269619	116269619	NM_001232.3:c.731A>G	NP_001223.2:p.His244Arg	NC_000001.10:g.116269619T>C	HGMD:CM106915	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_005477.2(HCN4):c.88G>A (p.Glu30Lys)	10021	HCN4	Uncertain significance	786205802	RCV000170936;	N	MedGen:CN029864,OMIM:115000	15	73660524	73660524	NM_005477.2:c.88G>A	NP_005468.1:p.Glu30Lys	NC_000015.9:g.73660524C>T	-	CN029864 115000 Cardiac arrhythmia
NM_002230.2(JUP):c.1774-13C>T	3728	JUP	Benign	116772523	RCV000030096; RCV000039070;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	17	39914049	39914049	NM_002230.2:c.1774-13C>T		NC_000017.10:g.39914049G>A	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_002230.2(JUP):c.1702C>T (p.His568Tyr)	3728	JUP	Likely pathogenic	794729048	RCV000183502;	N	MedGen:CN029864,OMIM:115000	17	39914722	39914722	NM_002230.2:c.1702C>T	NP_002221.1:p.His568Tyr	NC_000017.10:g.39914722G>A	-	CN029864 115000 Cardiac arrhythmia
NM_002230.2(JUP):c.1366G>A (p.Val456Ile)	3728	JUP	Likely benign;Uncertain significance	78437817	RCV000183477; RCV000157250; RCV000223572;	N	MedGen:C0349788,ORPHA:247,SNOMED CT:253528005,SNOMED CT:281170005; MedGen:CN029864,OMIM:115000; MedGen:CN169374	17	39919366	39919366	NM_002230.2:c.1366G>A	NP_002221.1:p.Val456Ile	NC_000017.10:g.39919366C>T	-	C0349788 Arrhythmogenic right ventricular cardiomyopathy; CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_002230.2(JUP):c.1324A>T (p.Ile442Phe)	3728	JUP	Uncertain significance	142213474	RCV000183498; RCV000171958;	N	MedGen:CN029864,OMIM:115000; MedGen:CN221809	17	39919408	39919408	NM_002230.2:c.1324A>T	NP_002221.1:p.Ile442Phe	NC_000017.10:g.39919408T>A	-	CN029864 115000 Cardiac arrhythmia; CN221809 not provided
NM_002230.2(JUP):c.1130G>A (p.Arg377His)	3728	JUP	Uncertain significance	200433530	RCV000183497;	N	MedGen:CN029864,OMIM:115000	17	39920993	39920993	NM_002230.2:c.1130G>A	NP_002221.1:p.Arg377His	NC_000017.10:g.39920993C>T	-	CN029864 115000 Cardiac arrhythmia
NM_002230.2(JUP):c.909+6C>T	3728	JUP	Benign;Likely benign	193922705	RCV000030098; RCV000039091;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	17	39923625	39923625	NM_002230.2:c.909+6C>T		NC_000017.10:g.39923625G>A	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_002230.2(JUP):c.867C>T (p.Thr289=)	3728	JUP	Benign	2230407	RCV000030097; RCV000039089; RCV000205099;	N	MedGen:C1832600,OMIM:601214,ORPHA:34217; MedGen:C1969081,OMIM:611528; MedGen:CN029864,OMIM:115000; MedGen:CN169374	17	39923673	39923673	NM_002230.2:c.867C>T	NP_002221.1:p.Thr289=	NC_000017.10:g.39923673G>A	-	C1969081 611528 Arrhythmogenic right ventricular cardiomyopathy, type 12; CN029864 115000 Cardiac arrhythmia; C1832600 601214 Naxos disease; CN169374 not specified
NM_002230.2(JUP):c.818T>C (p.Met273Thr)	3728	JUP	Likely pathogenic	782091454	RCV000183509;	N	MedGen:CN029864,OMIM:115000	17	39923722	39923722	NM_002230.2:c.818T>C	NP_002221.1:p.Met273Thr	NC_000017.10:g.39923722A>G	-	CN029864 115000 Cardiac arrhythmia
NM_002230.2(JUP):c.809T>A (p.Leu270Gln)	3728	JUP	Uncertain significance	374177985	RCV000183492;	N	MedGen:CN029864,OMIM:115000	17	39923731	39923731	NM_002230.2:c.809T>A	NP_002221.1:p.Leu270Gln	NC_000017.10:g.39923731A>T	-	CN029864 115000 Cardiac arrhythmia
NM_002230.2(JUP):c.100G>A (p.Val34Met)	3728	JUP	Uncertain significance	781929759	RCV000183481;	N	MedGen:CN029864,OMIM:115000	17	39928007	39928007	NM_002230.2:c.100G>A	NP_002221.1:p.Val34Met	NC_000017.10:g.39928007C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000219.5(KCNE1):c.30G>T (p.Thr10=)	3753	KCNE1	Likely benign	187686559	RCV000030099;	N	MedGen:CN029864,OMIM:115000	21	35821903	35821903	NM_000219.5:c.30G>T	NP_000210.2:p.Thr10=	NC_000021.8:g.35821903C>A,NC_000021.8:g.35821903C>T	-	CN029864 115000 Cardiac arrhythmia
NM_172201.1(KCNE2):c.-13+5G>A	9992	KCNE2	Likely pathogenic	786205806	RCV000170952;	N	MedGen:CN029864,OMIM:115000	21	35736455	35736455	NM_172201.1:c.-13+5G>A		NC_000021.8:g.35736455G>A	-	CN029864 115000 Cardiac arrhythmia
NM_172201.1(KCNE2):c.80G>A (p.Arg27His)	9992	KCNE2	Pathogenic;Uncertain significance	148968498	RCV000170955; RCV000148520; RCV000058378;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	21	35742857	35742857	NM_172201.1:c.80G>A	NP_751951.1:p.Arg27His	NC_000021.8:g.35742857G>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr)	9992	KCNE2	Likely pathogenic;Pathogenic	74315447	RCV000006425; RCV000148518; RCV000212497; RCV000058360;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C3150953,OMIM:613693; MedGen:CN029864,OMIM:115000; MedGen:CN221809	21	35742938	35742938	NM_172201.1:c.161T>C	NP_751951.1:p.Met54Thr	NC_000021.8:g.35742938T>C	OMIM Allelic Variant:603796.0002	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C3150953 613693 Long QT syndrome 6; CN221809 not provided
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr)	9992	KCNE2	Likely benign;Pathogenic;Uncertain significance	74315448	RCV000006426; RCV000148521; RCV000058362; RCV000212498;	N	MedGen:C3150953,OMIM:613693; MedGen:CN029864,OMIM:115000; MedGen:CN169374; MedGen:CN221809	21	35742947	35742947	NM_172201.1:c.170T>C	NP_751951.1:p.Ile57Thr	NC_000021.8:g.35742947T>C	OMIM Allelic Variant:603796.0003	CN029864 115000 Cardiac arrhythmia; C3150953 613693 Long QT syndrome 6; CN221809 not provided; CN169374 not specified
NM_005472.4(KCNE3):c.280delG (p.Val94Cysfs)	10008	KCNE3	Likely pathogenic	786205809	RCV000170966;	N	MedGen:CN029864,OMIM:115000	11	74168329	74168329	NM_005472.4:c.280delG	NP_005463.1:p.Val94Cysfs	NC_000011.9:g.74168329delC	-	CN029864 115000 Cardiac arrhythmia
NM_005472.4(KCNE3):c.248G>A (p.Arg83His)	10008	KCNE3	Benign;Likely benign;Uncertain significance	17215437	RCV000185521; RCV000005879; RCV000171813;	N	MedGen:CN029864,OMIM:115000; MedGen:CN221809; MedGen:CN231077	11	74168361	74168361	NM_005472.4:c.248G>A	NP_005463.1:p.Arg83His	NC_000011.9:g.74168361C>T	OMIM Allelic Variant:604433.0001	CN029864 115000 Cardiac arrhythmia; CN221809 not provided; CN231077 Periodic paralysis
NM_000238.3(KCNH2):c.3470dupC (p.Ser1159Glnfs)	3757	KCNH2	Pathogenic	794728474	RCV000182014;	N	MedGen:CN029864,OMIM:115000	7	150642463	150642463	NM_000238.3:c.3470dupC	NP_000229.1:p.Ser1159Glnfs	NC_000007.13:g.150642463dupG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3331-9_3331-8delGT	3757	KCNH2	Benign	41313749	RCV000181747;	N	MedGen:CN029864,OMIM:115000	7	150642610	150642611	NM_000238.3:c.3331-9_3331-8delGT		NC_000007.13:g.150642610_150642611delAC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3331-13delG	3757	KCNH2	Benign	794728348	RCV000181746;	N	MedGen:CN029864,OMIM:115000	7	150642615	150642615	NM_000238.3:c.3331-13delG		NC_000007.13:g.150642615delC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3331-14delT	3757	KCNH2	Benign	794728347	RCV000181744;	N	MedGen:CN029864,OMIM:115000	7	150642616	150642616	NM_000238.3:c.3331-14delT		NC_000007.13:g.150642616delA	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3251dupC (p.Pro1086Alafs)	3757	KCNH2	Pathogenic	794728473	RCV000182013;	N	MedGen:CN029864,OMIM:115000	7	150644044	150644044	NM_000238.3:c.3251dupC	NP_000229.1:p.Pro1086Alafs	NC_000007.13:g.150644044dupG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu)	3757	KCNH2	Benign;Likely benign;Uncertain significance	36210421	RCV000203011; RCV000030101; RCV000058202; RCV000171814; RCV000172896;	N	EFO:EFO_0005307,MedGen:C0040479,SNOMED CT:31722008; MedGen:C0520806; MedGen:C3150943,OMIM:613688; MedGen:CN029864,OMIM:115000; MedGen:CN221809	7	150644428	150644428	NM_000238.3:c.3140G>T	NP_000229.1:p.Arg1047Leu	NC_000007.13:g.150644428C>A	-	CN029864 115000 Cardiac arrhythmia; C3150943 613688 Long QT syndrome 2; CN221809 not provided; C0520806 Sudden unexplained death; C0040479 Torsades de pointes
NM_000238.3(KCNH2):c.3136delC (p.Gln1046Serfs)	3757	KCNH2	Pathogenic	794728472	RCV000182012;	N	MedGen:CN029864,OMIM:115000	7	150644432	150644432	NM_000238.3:c.3136delC	NP_000229.1:p.Gln1046Serfs	NC_000007.13:g.150644432delG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3112_3129del18insCA (p.Val1038Glnfs)	3757	KCNH2	Pathogenic	794728471	RCV000182011;	N	MedGen:CN029864,OMIM:115000	7	150644439	150644456	NM_000238.3:c.3112_3129del18insCA	NP_000229.1:p.Val1038Glnfs	NC_000007.13:g.150644439_150644456del18insTG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3105_3112dupGGGCGACG (p.Val1038Glyfs)	3757	KCNH2	Pathogenic	794728470	RCV000182010;	N	MedGen:CN029864,OMIM:115000	7	150644456	150644463	NM_000238.3:c.3105_3112dupGGGCGACG	NP_000229.1:p.Val1038Glyfs	NC_000007.13:g.150644456_150644463dupCGTCGCCC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3099_3109delGCCCCGGGGCG (p.Pro1034Argfs)	3757	KCNH2	Pathogenic	794728466	RCV000182006;	N	MedGen:CN029864,OMIM:115000	7	150644459	150644469	NM_000238.3:c.3099_3109delGCCCCGGGGCG	NP_000229.1:p.Pro1034Argfs	NC_000007.13:g.150644459_150644469delCGCCCCGGGGC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3107G>A (p.Gly1036Asp)	3757	KCNH2	Pathogenic	199473022	RCV000181910; RCV000058197;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150644461	150644461	NM_000238.3:c.3107G>A	NP_000229.1:p.Gly1036Asp	NC_000007.13:g.150644461C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.3104_3107dupGGGG (p.Asp1037Glyfs)	3757	KCNH2	Pathogenic	794728469	RCV000182009;	N	MedGen:CN029864,OMIM:115000	7	150644461	150644464	NM_000238.3:c.3104_3107dupGGGG	NP_000229.1:p.Asp1037Glyfs	NC_000007.13:g.150644461_150644464dupCCCC,NC_000007.13:g.150644461dupC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3107dupG (p.Asp1037Argfs)	3757	KCNH2	Pathogenic	794728469	RCV000182065;	N	MedGen:CN029864,OMIM:115000	7	150644461	150644461	NM_000238.3:c.3107dupG	NP_000229.1:p.Asp1037Argfs	NC_000007.13:g.150644461_150644464dupCCCC,NC_000007.13:g.150644461dupC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3096_3099dupGCGG (p.Pro1034Alafs)	3757	KCNH2	Pathogenic	794728467	RCV000182007;	N	MedGen:CN029864,OMIM:115000	7	150644469	150644472	NM_000238.3:c.3096_3099dupGCGG	NP_000229.1:p.Pro1034Alafs	NC_000007.13:g.150644469_150644472dupCCGC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3094C>T (p.Arg1032Trp)	3757	KCNH2	Likely pathogenic	373394254	RCV000181909;	N	MedGen:CN029864,OMIM:115000	7	150644474	150644474	NM_000238.3:c.3094C>T	NP_000229.1:p.Arg1032Trp	NC_000007.13:g.150644474G>A	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3079C>A (p.Leu1027Ile)	3757	KCNH2	Likely benign	794728346	RCV000181740;	N	MedGen:CN029864,OMIM:115000	7	150644489	150644489	NM_000238.3:c.3079C>A	NP_000229.1:p.Leu1027Ile	NC_000007.13:g.150644489G>T	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3079dupC (p.Leu1027Profs)	3757	KCNH2	Pathogenic	794728465	RCV000182005;	N	MedGen:CN029864,OMIM:115000	7	150644489	150644489	NM_000238.3:c.3079dupC	NP_000229.1:p.Leu1027Profs	NC_000007.13:g.150644489dupG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.3040C>T (p.Arg1014Ter)	3757	KCNH2	Pathogenic	794728403	RCV000181907; RCV000204945;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:CN029864,OMIM:115000	7	150644528	150644528	NM_000238.3:c.3040C>T	NP_000229.1:p.Arg1014Ter	NC_000007.13:g.150644528G>A	-	CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome
NM_000238.3(KCNH2):c.2966-2_2967dupAGGC	3757	KCNH2	Pathogenic	794728464	RCV000182003;	N	MedGen:CN029864,OMIM:115000	7	150644601	150644604	NM_000238.3:c.2966-2_2967dupAGGC		NC_000007.13:g.150644601_150644604dupGCCT	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2959_2960delCT (p.Leu987Valfs)	3757	KCNH2	Pathogenic	748706373	RCV000182004;	N	MedGen:CN029864,OMIM:115000	7	150644699	150644700	NM_000238.3:c.2959_2960delCT	NP_000229.1:p.Leu987Valfs	NC_000007.13:g.150644699_150644700delAG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2916_2917dupCC (p.Leu973Profs)	3757	KCNH2	Pathogenic	794728463	RCV000182002;	N	MedGen:CN029864,OMIM:115000	7	150644742	150644743	NM_000238.3:c.2916_2917dupCC	NP_000229.1:p.Leu973Profs	NC_000007.13:g.150644742_150644743dupGG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2906delG (p.Gly969Valfs)	3757	KCNH2	Pathogenic	794728459	RCV000181997;	N	MedGen:CN029864,OMIM:115000	7	150644753	150644753	NM_000238.3:c.2906delG	NP_000229.1:p.Gly969Valfs	NC_000007.13:g.150644753delC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2900dupC (p.Pro968Alafs)	3757	KCNH2	Pathogenic	786204101	RCV000182001; RCV000168023;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:CN029864,OMIM:115000	7	150644759	150644759	NM_000238.3:c.2900dupC	NP_000229.1:p.Pro968Alafs	NC_000007.13:g.150644759dupG	-	CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome
NM_000238.3(KCNH2):c.2892dupC (p.Gly965Argfs)	3757	KCNH2	Pathogenic	794728462	RCV000182000;	N	MedGen:CN029864,OMIM:115000	7	150644767	150644767	NM_000238.3:c.2892dupC	NP_000229.1:p.Gly965Argfs	NC_000007.13:g.150644767dupG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2887C>A (p.Pro963Thr)	3757	KCNH2	Pathogenic	199473014	RCV000181899; RCV000058176;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150644772	150644772	NM_000238.3:c.2887C>A	NP_000229.1:p.Pro963Thr	NC_000007.13:g.150644772G>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.2857delC (p.Leu953Serfs)	3757	KCNH2	Pathogenic	794728503	RCV000182062;	N	MedGen:CN029864,OMIM:115000	7	150644802	150644802	NM_000238.3:c.2857delC	NP_000229.1:p.Leu953Serfs	NC_000007.13:g.150644802delG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2797dupA (p.Ser933Lysfs)	3757	KCNH2	Pathogenic	794728461	RCV000181999;	N	MedGen:CN029864,OMIM:115000	7	150644862	150644862	NM_000238.3:c.2797dupA	NP_000229.1:p.Ser933Lysfs	NC_000007.13:g.150644862dupT	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2783_2789delGGGAGAG (p.Gly928Alafs)	3757	KCNH2	Pathogenic	794728457	RCV000181995;	N	MedGen:CN029864,OMIM:115000	7	150644870	150644876	NM_000238.3:c.2783_2789delGGGAGAG	NP_000229.1:p.Gly928Alafs	NC_000007.13:g.150644870_150644876delCTCTCCC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2785dupG (p.Glu929Glyfs)	3757	KCNH2	Pathogenic	794728458	RCV000181996;	N	MedGen:CN029864,OMIM:115000	7	150644874	150644874	NM_000238.3:c.2785dupG	NP_000229.1:p.Glu929Glyfs	NC_000007.13:g.150644874dupC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2780G>A (p.Trp927Ter)	3757	KCNH2	Pathogenic	794728399	RCV000181894;	N	MedGen:CN029864,OMIM:115000	7	150644879	150644879	NM_000238.3:c.2780G>A	NP_000229.1:p.Trp927Ter	NC_000007.13:g.150644879C>A,NC_000007.13:g.150644879C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2777delC (p.Pro926Argfs)	3757	KCNH2	Pathogenic	794728456	RCV000181994;	N	MedGen:CN029864,OMIM:115000	7	150644882	150644882	NM_000238.3:c.2777delC	NP_000229.1:p.Pro926Argfs	NC_000007.13:g.150644882delG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2775dupG (p.Pro926Alafs)	3757	KCNH2	Pathogenic	794728455	RCV000181993; RCV000204205;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:CN029864,OMIM:115000	7	150644884	150644884	NM_000238.3:c.2775dupG	NP_000229.1:p.Pro926Alafs	NC_000007.13:g.150644884dupC	-	CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome
NM_000238.3(KCNH2):c.2764delC (p.Arg922Glyfs)	3757	KCNH2	Pathogenic	794728453	RCV000181991;	N	MedGen:CN029864,OMIM:115000	7	150644895	150644895	NM_000238.3:c.2764delC	NP_000229.1:p.Arg922Glyfs	NC_000007.13:g.150644895delG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2734_2738dupCGGGC (p.Ala915Argfs)	3757	KCNH2	Pathogenic	794728502	RCV000182061;	N	MedGen:CN029864,OMIM:115000	7	150644921	150644925	NM_000238.3:c.2734_2738dupCGGGC	NP_000229.1:p.Ala915Argfs	NC_000007.13:g.150644921_150644925dupGCCCG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2731_2732dupGG (p.Arg912Alafs)	3757	KCNH2	Pathogenic	794728452	RCV000181990;	N	MedGen:CN029864,OMIM:115000	7	150644927	150644928	NM_000238.3:c.2731_2732dupGG	NP_000229.1:p.Arg912Alafs	NC_000007.13:g.150644927_150644928dupCC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2732delG (p.Gly911Alafs)	3757	KCNH2	Pathogenic	794728451	RCV000181989;	N	MedGen:CN029864,OMIM:115000	7	150644927	150644927	NM_000238.3:c.2732delG	NP_000229.1:p.Gly911Alafs	NC_000007.13:g.150644927delC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2724_2728dupGGGGC (p.Pro910Argfs)	3757	KCNH2	Pathogenic	794728449	RCV000181987;	N	MedGen:CN029864,OMIM:115000	7	150644931	150644935	NM_000238.3:c.2724_2728dupGGGGC	NP_000229.1:p.Pro910Argfs	NC_000007.13:g.150644931_150644935dupGCCCC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2717C>T (p.Ser906Leu)	3757	KCNH2	Pathogenic;Uncertain significance	199473435	RCV000181884; RCV000203863; RCV000058154;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150644942	150644942	NM_000238.3:c.2717C>T	NP_000229.1:p.Ser906Leu	NC_000007.13:g.150644942G>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome
NM_000238.3(KCNH2):c.2690_2691delAGinsC (p.Lys897Thrfs)	3757	KCNH2	Pathogenic	794728448	RCV000181986;	N	MedGen:CN029864,OMIM:115000	7	150645533	150645534	NM_000238.3:c.2690_2691delAGinsC	NP_000229.1:p.Lys897Thrfs	NC_000007.13:g.150645533_150645534delCTinsG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2684_2685insCC (p.Asp896Argfs)	3757	KCNH2	Pathogenic	794728447	RCV000181985;	N	MedGen:CN029864,OMIM:115000	7	150645539	150645540	NM_000238.3:c.2684_2685insCC	NP_000229.1:p.Asp896Argfs	NC_000007.13:g.150645539_150645540insGG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2681G>T (p.Arg894Leu)	3757	KCNH2	Pathogenic	199473668	RCV000181881; RCV000058150;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150645543	150645543	NM_000238.3:c.2681G>T	NP_000229.1:p.Arg894Leu	NC_000007.13:g.150645543C>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.2665T>G (p.Leu889Val)	3757	KCNH2	Likely pathogenic	765427343	RCV000181878;	N	MedGen:CN029864,OMIM:115000	7	150645559	150645559	NM_000238.3:c.2665T>G	NP_000229.1:p.Leu889Val	NC_000007.13:g.150645559A>C	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly)	3757	KCNH2	Pathogenic	199473004	RCV000181873; RCV000058131;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150646026	150646026	NM_000238.3:c.2510A>G	NP_000229.1:p.Asp837Gly	NC_000007.13:g.150646026T>C	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.2509G>A (p.Asp837Asn)	3757	KCNH2	Pathogenic	199473005	RCV000181872; RCV000058129;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150646027	150646027	NM_000238.3:c.2509G>A	NP_000229.1:p.Asp837Asn	NC_000007.13:g.150646027C>A,NC_000007.13:g.150646027C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.2456delA (p.Asn819Thrfs)	3757	KCNH2	Pathogenic	794728446	RCV000181984;	N	MedGen:CN029864,OMIM:115000	7	150646080	150646080	NM_000238.3:c.2456delA	NP_000229.1:p.Asn819Thrfs	NC_000007.13:g.150646080delT	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu)	3757	KCNH2	Pathogenic	121912510	RCV000015513; RCV000181865; RCV000058123;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C3150943,OMIM:613688; MedGen:CN029864,OMIM:115000	7	150646083	150646083	NM_000238.3:c.2453C>T	NP_000229.1:p.Ser818Leu	NC_000007.13:g.150646083G>A	OMIM Allelic Variant:152427.0013	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C3150943 613688 Long QT syndrome 2
NM_000238.3(KCNH2):c.2419delG (p.Glu807Serfs)	3757	KCNH2	Pathogenic	794728445	RCV000181983;	N	MedGen:CN029864,OMIM:115000	7	150646117	150646117	NM_000238.3:c.2419delG	NP_000229.1:p.Glu807Serfs	NC_000007.13:g.150646117delC	-	CN029864 115000 Cardiac arrhythmia
NM_172056.2(KCNH2):c.2632C>T (p.Arg878Cys)	3757	KCNH2	Likely benign	370393086	RCV000181734;	N	MedGen:CN029864,OMIM:115000	7	150647022	150647022	NM_172056.2:c.2632C>T	NP_742053.1:p.Arg878Cys	NC_000007.13:g.150647022G>A	-	CN029864 115000 Cardiac arrhythmia
NM_172056.2(KCNH2):c.2503delC (p.Leu835Cysfs)	3757	KCNH2	Likely benign	546898924	RCV000181731;	N	MedGen:CN029864,OMIM:115000	7	150647151	150647151	NM_172056.2:c.2503delC	NP_742053.1:p.Leu835Cysfs	NC_000007.13:g.150647151delG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2386G>C (p.Val796Leu)	3757	KCNH2	Uncertain significance	143335921	RCV000181855;	N	MedGen:CN029864,OMIM:115000	7	150647268	150647268	NM_000238.3:c.2386G>C	NP_000229.1:p.Val796Leu	NC_000007.13:g.150647268C>G,NC_000007.13:g.150647268C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2386G>A (p.Val796Met)	3757	KCNH2	Uncertain significance	143335921	RCV000181854;	N	MedGen:CN029864,OMIM:115000	7	150647268	150647268	NM_000238.3:c.2386G>A	NP_000229.1:p.Val796Met	NC_000007.13:g.150647268C>G,NC_000007.13:g.150647268C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2371C>T (p.Arg791Trp)	3757	KCNH2	Likely benign;Pathogenic;Uncertain significance	138498207	RCV000181852; RCV000148535; RCV000058113;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150647283	150647283	NM_000238.3:c.2371C>T	NP_000229.1:p.Arg791Trp	NC_000007.13:g.150647283G>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome
NM_000238.3(KCNH2):c.2366T>C (p.Ile789Thr)	3757	KCNH2	Pathogenic	794728388	RCV000181851;	N	MedGen:CN029864,OMIM:115000	7	150647288	150647288	NM_000238.3:c.2366T>C	NP_000229.1:p.Ile789Thr	NC_000007.13:g.150647288A>G	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2362G>A (p.Glu788Lys)	3757	KCNH2	Pathogenic	199472997	RCV000181850; RCV000058111;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150647292	150647292	NM_000238.3:c.2362G>A	NP_000229.1:p.Glu788Lys	NC_000007.13:g.150647292C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.2350C>T (p.Arg784Trp)	3757	KCNH2	Likely pathogenic;Pathogenic;risk factor	12720441	RCV000015514; RCV000181848; RCV000208497; RCV000058108;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:CN029864,OMIM:115000; MedGen:CN070020	7	150647304	150647304	NM_000238.3:c.2350C>T	NP_000229.1:p.Arg784Trp	NC_000007.13:g.150647304G>A	OMIM Allelic Variant:152427.0014	C1142166 Brugada syndrome; CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN070020 Long QT syndrome 2, acquired, susceptibility to
NM_000238.3(KCNH2):c.2204C>T (p.Ser735Leu)	3757	KCNH2	Likely pathogenic;Uncertain significance	199472988	RCV000181842; RCV000196406; RCV000058094;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150647450	150647450	NM_000238.3:c.2204C>T	NP_000229.1:p.Ser735Leu	NC_000007.13:g.150647450G>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome
NM_000238.3(KCNH2):c.2144C>T (p.Ala715Val)	3757	KCNH2	Uncertain significance	780656919	RCV000181839;	N	MedGen:CN029864,OMIM:115000	7	150648010	150648010	NM_000238.3:c.2144C>T	NP_000229.1:p.Ala715Val	NC_000007.13:g.150648010G>A	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2115delG (p.Trp705Cysfs)	3757	KCNH2	Pathogenic	794728443	RCV000181981;	N	MedGen:CN029864,OMIM:115000	7	150648039	150648039	NM_000238.3:c.2115delG	NP_000229.1:p.Trp705Cysfs	NC_000007.13:g.150648039delC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2084delA (p.Gln695Argfs)	3757	KCNH2	Pathogenic	794728501	RCV000182060;	N	MedGen:CN029864,OMIM:115000	7	150648070	150648070	NM_000238.3:c.2084delA	NP_000229.1:p.Gln695Argfs	NC_000007.13:g.150648070delT	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.2053delC (p.Arg685Alafs)	3757	KCNH2	Pathogenic	794728500	RCV000182059;	N	MedGen:CN029864,OMIM:115000	7	150648101	150648101	NM_000238.3:c.2053delC	NP_000229.1:p.Arg685Alafs	NC_000007.13:g.150648101delG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1954_1956delTATinsCAC (p.Tyr652His)	3757	KCNH2	Likely pathogenic	794728490	RCV000182041;	N	MedGen:CN029864,OMIM:115000	7	150648198	150648200	NM_000238.3:c.1954_1956delTATinsCAC	NP_000229.1:p.Tyr652His	NC_000007.13:g.150648198_150648200delATAinsGTG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1916T>A (p.Ile639Asn)	3757	KCNH2	Pathogenic	794728379	RCV000181829;	N	MedGen:CN029864,OMIM:115000	7	150648565	150648565	NM_000238.3:c.1916T>A	NP_000229.1:p.Ile639Asn	NC_000007.13:g.150648565A>T	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1911_1912delGA (p.Lys638Aspfs)	3757	KCNH2	Pathogenic	794728441	RCV000181979;	N	MedGen:CN029864,OMIM:115000	7	150648569	150648570	NM_000238.3:c.1911_1912delGA	NP_000229.1:p.Lys638Aspfs	NC_000007.13:g.150648569_150648570delTC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1904A>G (p.Asn635Ser)	3757	KCNH2	Pathogenic	199472964	RCV000181827;	N	MedGen:CN029864,OMIM:115000	7	150648577	150648577	NM_000238.3:c.1904A>G	NP_000229.1:p.Asn635Ser	NC_000007.13:g.150648577T>A,NC_000007.13:g.150648577T>C	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1864C>T (p.Leu622Phe)	3757	KCNH2	Pathogenic	199473525	RCV000182033; RCV000058019;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150648617	150648617	NM_000238.3:c.1864C>T	NP_000229.1:p.Leu622Phe	NC_000007.13:g.150648617G>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.1815delC (p.Ser606Profs)	3757	KCNH2	Pathogenic	794728499	RCV000182058;	N	MedGen:CN029864,OMIM:115000	7	150648666	150648666	NM_000238.3:c.1815delC	NP_000229.1:p.Ser606Profs	NC_000007.13:g.150648666delG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser)	3757	KCNH2	Pathogenic	199472936	RCV000208241; RCV000181820; RCV000057995;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C3150943,OMIM:613688; MedGen:CN029864,OMIM:115000	7	150648680	150648680	NM_000238.3:c.1801G>A	NP_000229.1:p.Gly601Ser	NC_000007.13:g.150648680C>A,NC_000007.13:g.150648680C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C3150943 613688 Long QT syndrome 2
NM_000238.3(KCNH2):c.1676delT (p.Leu559Profs)	3757	KCNH2	Pathogenic	794728439	RCV000181977;	N	MedGen:CN029864,OMIM:115000	7	150648805	150648805	NM_000238.3:c.1676delT	NP_000229.1:p.Leu559Profs	NC_000007.13:g.150648805delA	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1655T>C (p.Leu552Ser)	3757	KCNH2	Pathogenic	199472918	RCV000208055; RCV000181803; RCV000057934;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C3150943,OMIM:613688; MedGen:CN029864,OMIM:115000	7	150648826	150648826	NM_000238.3:c.1655T>C	NP_000229.1:p.Leu552Ser	NC_000007.13:g.150648826A>G	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C3150943 613688 Long QT syndrome 2
NM_000238.3(KCNH2):c.1583G>A (p.Arg528Gln)	3757	KCNH2	Likely pathogenic	199472914	RCV000181799;	N	MedGen:CN029864,OMIM:115000	7	150648898	150648898	NM_000238.3:c.1583G>A	NP_000229.1:p.Arg528Gln	NC_000007.13:g.150648898C>G,NC_000007.13:g.150648898C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1539C>T (p.Phe513=)	3757	KCNH2	Benign	1805120	RCV000030100;	N	MedGen:CN029864,OMIM:115000	7	150649531	150649531	NM_000238.3:c.1539C>T	NP_000229.1:p.Phe513=	NC_000007.13:g.150649531G>A	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1525G>A (p.Asp509Asn)	3757	KCNH2	Likely pathogenic	370637245	RCV000181798;	N	MedGen:CN029864,OMIM:115000	7	150649545	150649545	NM_000238.3:c.1525G>A	NP_000229.1:p.Asp509Asn	NC_000007.13:g.150649545C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1319dupC (p.Pro441Alafs)	3757	KCNH2	Pathogenic	794728436	RCV000181974;	N	MedGen:CN029864,OMIM:115000	7	150649751	150649751	NM_000238.3:c.1319dupC	NP_000229.1:p.Pro441Alafs	NC_000007.13:g.150649751dupG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1285delG (p.Ala429Leufs)	3757	KCNH2	Pathogenic	794728498	RCV000182057;	N	MedGen:CN029864,OMIM:115000	7	150649785	150649785	NM_000238.3:c.1285delG	NP_000229.1:p.Ala429Leufs	NC_000007.13:g.150649785delC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1201_1204dupCTGC (p.His402Profs)	3757	KCNH2	Pathogenic	794728434	RCV000181972;	N	MedGen:CN029864,OMIM:115000	7	150649866	150649869	NM_000238.3:c.1201_1204dupCTGC	NP_000229.1:p.His402Profs	NC_000007.13:g.150649866_150649869dupGCAG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1150dupG (p.Val384Glyfs)	3757	KCNH2	Pathogenic	794728433	RCV000181971;	N	MedGen:CN029864,OMIM:115000	7	150649920	150649920	NM_000238.3:c.1150dupG	NP_000229.1:p.Val384Glyfs	NC_000007.13:g.150649920dupC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1142delG (p.Gly381Alafs)	3757	KCNH2	Pathogenic	794728497	RCV000182056;	N	MedGen:CN029864,OMIM:115000	7	150649928	150649928	NM_000238.3:c.1142delG	NP_000229.1:p.Gly381Alafs	NC_000007.13:g.150649928delC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.1132dupC (p.Leu378Profs)	3757	KCNH2	Pathogenic	794728432	RCV000181970;	N	MedGen:CN029864,OMIM:115000	7	150649938	150649938	NM_000238.3:c.1132dupC	NP_000229.1:p.Leu378Profs	NC_000007.13:g.150649938dupG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.959C>G (p.Ser320Trp)	3757	KCNH2	Pathogenic	199472886	RCV000181773;	N	MedGen:CN029864,OMIM:115000	7	150654548	150654548	NM_000238.3:c.959C>G	NP_000229.1:p.Ser320Trp	NC_000007.13:g.150654548G>A,NC_000007.13:g.150654548G>C	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.934C>T (p.Arg312Cys)	3757	KCNH2	Pathogenic	199472885	RCV000181772; RCV000171561; RCV000058276;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150654573	150654573	NM_000238.3:c.934C>T	NP_000229.1:p.Arg312Cys	NC_000007.13:g.150654573G>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome
NM_000238.3(KCNH2):c.916+2_916+13delinsCT	3757	KCNH2	Pathogenic	794728430	RCV000181968;	N	MedGen:CN029864,OMIM:115000	7	150655134	150655145	NM_000238.3:c.916+2_916+13delinsCT		NC_000007.13:g.150655134_150655145delGCGGCGCCCTCAinsAG	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.916G>T (p.Gly306Trp)	3757	KCNH2	Pathogenic	199472884	RCV000182020; RCV000058273;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150655147	150655147	NM_000238.3:c.916G>T	NP_000229.1:p.Gly306Trp	NC_000007.13:g.150655147C>A,NC_000007.13:g.150655147C>G	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.889C>T (p.Pro297Ser)	3757	KCNH2	Pathogenic	199472882	RCV000181771; RCV000058269;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150655174	150655174	NM_000238.3:c.889C>T	NP_000229.1:p.Pro297Ser	NC_000007.13:g.150655174G>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.853_859delGCCGACG (p.Ala285Thrfs)	3757	KCNH2	Pathogenic	794728428	RCV000181966;	N	MedGen:CN029864,OMIM:115000	7	150655204	150655210	NM_000238.3:c.853_859delGCCGACG	NP_000229.1:p.Ala285Thrfs	NC_000007.13:g.150655204_150655210delCGTCGGC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.809_812delCGCGinsAAAAGC (p.Thr270Lysfs)	3757	KCNH2	Pathogenic	794728426	RCV000181964;	N	MedGen:CN029864,OMIM:115000	7	150655251	150655254	NM_000238.3:c.809_812delCGCGinsAAAAGC	NP_000229.1:p.Thr270Lysfs	NC_000007.13:g.150655251_150655254delCGCGinsGCTTTT	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.735_754dup20 (p.Arg252Profs)	3757	KCNH2	Pathogenic	794728425	RCV000181963;	N	MedGen:CN029864,OMIM:115000	7	150655309	150655328	NM_000238.3:c.735_754dup20	NP_000229.1:p.Arg252Profs	NC_000007.13:g.150655309_150655328dup20	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.568G>A (p.Ala190Thr)	3757	KCNH2	Benign;Likely benign	150817714	RCV000181719; RCV000058241;	N	MedGen:CN029864,OMIM:115000; MedGen:CN221809	7	150655495	150655495	NM_000238.3:c.568G>A	NP_000229.1:p.Ala190Thr	NC_000007.13:g.150655495C>T	-	CN029864 115000 Cardiac arrhythmia; CN221809 not provided
NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del)	3757	KCNH2	Uncertain significance	551056698	RCV000181957;	N	MedGen:CN029864,OMIM:115000	7	150655495	150655503	NM_000238.3:c.560_568delGCGCGGGCG	NP_000229.1:p.Gly187_Gly189del	NC_000007.13:g.150655495_150655503delCGCCCGCGC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.560_568dupGCGCGGGCG (p.Gly189_Ala190insGlyAlaGly)	3757	KCNH2	Uncertain significance	794728421	RCV000181959;	N	MedGen:CN029864,OMIM:115000	7	150655495	150655503	NM_000238.3:c.560_568dupGCGCGGGCG	NP_000229.1:p.Gly189_Ala190insGlyAlaGly	NC_000007.13:g.150655495_150655503dupCGCCCGCGC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.542G>A (p.Arg181Gln)	3757	KCNH2	Benign	41308954	RCV000181717; RCV000205911; RCV000058239;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:CN029864,OMIM:115000; MedGen:CN221809	7	150655521	150655521	NM_000238.3:c.542G>A	NP_000229.1:p.Arg181Gln	NC_000007.13:g.150655521C>T	-	CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome; CN221809 not provided
NM_000238.3(KCNH2):c.472+1G>C	3757	KCNH2	Pathogenic	794728477	RCV000182017;	N	MedGen:CN029864,OMIM:115000	7	150656659	150656659	NM_000238.3:c.472+1G>C		NC_000007.13:g.150656659C>G	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp)	3757	KCNH2	Benign;Likely benign;Uncertain significance	139544114	RCV000181758; RCV000148528; RCV000058234;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:CN029864,OMIM:115000; MedGen:CN221809	7	150656690	150656690	NM_000238.3:c.442C>T	NP_000229.1:p.Arg148Trp	NC_000007.13:g.150656690G>A	-	CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome; CN221809 not provided
NM_000238.3(KCNH2):c.373_374insGTGG (p.Phe125Cysfs)	3757	KCNH2	Pathogenic	794728489	RCV000182040;	N	MedGen:CN029864,OMIM:115000	7	150656758	150656759	NM_000238.3:c.373_374insGTGG	NP_000229.1:p.Phe125Cysfs	NC_000007.13:g.150656758_150656759insCCAC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.361delG (p.Ala121Leufs)	3757	KCNH2	Pathogenic	794728495	RCV000182054;	N	MedGen:CN029864,OMIM:115000	7	150656771	150656771	NM_000238.3:c.361delG	NP_000229.1:p.Ala121Leufs	NC_000007.13:g.150656771delC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.341C>G (p.Pro114Arg)	3757	KCNH2	Pathogenic	794728350	RCV000181751;	N	MedGen:CN029864,OMIM:115000	7	150656791	150656791	NM_000238.3:c.341C>G	NP_000229.1:p.Pro114Arg	NC_000007.13:g.150656791G>C	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.281T>G (p.Val94Gly)	3757	KCNH2	Pathogenic	199472852	RCV000181944; RCV000058167;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150671825	150671825	NM_000238.3:c.281T>G	NP_000229.1:p.Val94Gly	NC_000007.13:g.150671825A>C	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.266C>T (p.Ala89Val)	3757	KCNH2	Likely pathogenic	781247868	RCV000181941;	N	MedGen:CN029864,OMIM:115000	7	150671840	150671840	NM_000238.3:c.266C>T	NP_000229.1:p.Ala89Val	NC_000007.13:g.150671840G>A	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.244_252dupATCGCGCAG (p.Gln84_Ala85insIleAlaGln)	3757	KCNH2	Pathogenic	794728476	RCV000182016;	N	MedGen:CN029864,OMIM:115000	7	150671854	150671862	NM_000238.3:c.244_252dupATCGCGCAG	NP_000229.1:p.Gln84_Ala85insIleAlaGln	NC_000007.13:g.150671854_150671862dupCTGCGCGAT	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.247G>C (p.Ala83Pro)	3757	KCNH2	Uncertain significance	794728412	RCV000181940;	N	MedGen:CN029864,OMIM:115000	7	150671859	150671859	NM_000238.3:c.247G>C	NP_000229.1:p.Ala83Pro	NC_000007.13:g.150671859C>G	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.215C>A (p.Pro72Gln)	3757	KCNH2	Pathogenic	199473421	RCV000181937; RCV000058088;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	7	150671891	150671891	NM_000238.3:c.215C>A	NP_000229.1:p.Pro72Gln	NC_000007.13:g.150671891G>A,NC_000007.13:g.150671891G>C,NC_000007.13:g.150671891	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000238.3(KCNH2):c.156C>A (p.Cys52Ter)	3757	KCNH2	Pathogenic	754921704	RCV000182048;	N	MedGen:CN029864,OMIM:115000	7	150671950	150671950	NM_000238.3:c.156C>A	NP_000229.1:p.Cys52Ter	NC_000007.13:g.150671950G>T	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.154delT (p.Cys52Alafs)	3757	KCNH2	Pathogenic	794728508	RCV000182068;	N	MedGen:CN029864,OMIM:115000	7	150671952	150671952	NM_000238.3:c.154delT	NP_000229.1:p.Cys52Alafs	NC_000007.13:g.150671952delA	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.106delG (p.Val36Trpfs)	3757	KCNH2	Pathogenic	794728507	RCV000182067;	N	MedGen:CN029864,OMIM:115000	7	150672000	150672000	NM_000238.3:c.106delG	NP_000229.1:p.Val36Trpfs	NC_000007.13:g.150672000delC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.100delG (p.Ala34Leufs)	3757	KCNH2	Pathogenic	794728506	RCV000182066;	N	MedGen:CN029864,OMIM:115000	7	150672006	150672006	NM_000238.3:c.100delG	NP_000229.1:p.Ala34Leufs	NC_000007.13:g.150672006delC	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.81dupT (p.Lys28Terfs)	3757	KCNH2	Pathogenic	794728475	RCV000182015;	N	MedGen:CN029864,OMIM:115000	7	150672025	150672025	NM_000238.3:c.81dupT	NP_000229.1:p.Lys28Terfs	NC_000007.13:g.150672025dupA	-	CN029864 115000 Cardiac arrhythmia
NM_000238.3(KCNH2):c.-13-7_-12delGGCCCGCCC	3757	KCNH2	Benign	754605400	RCV000181749;	N	MedGen:CN029864,OMIM:115000	7	150675013	150675021	NM_000238.3:c.-13-7_-12delGGCCCGCCC		NC_000007.13:g.150675013_150675021delGGGCGGGCC	-	CN029864 115000 Cardiac arrhythmia
NM_000891.2(KCNJ2):c.394_396dupGCC (p.Ala132_Phe133insAla)	3759	KCNJ2	Uncertain significance	786205821	RCV000170996;	N	MedGen:CN029864,OMIM:115000	17	68171574	68171576	NM_000891.2:c.394_396dupGCC	NP_000882.1:p.Ala132_Phe133insAla	NC_000017.10:g.68171574_68171576dupGCC	-	CN029864 115000 Cardiac arrhythmia
NM_000891.2(KCNJ2):c.660C>T (p.Ser220=)	3759	KCNJ2	Benign	7221086	RCV000030106;	N	MedGen:CN029864,OMIM:115000	17	68171840	68171840	NM_000891.2:c.660C>T	NP_000882.1:p.Ser220=	NC_000017.10:g.68171840C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000891.2(KCNJ2):c.916_918delGCC (p.Ala306del)	3759	KCNJ2	Likely pathogenic	786205822	RCV000170997;	N	MedGen:CN029864,OMIM:115000	17	68172096	68172098	NM_000891.2:c.916_918delGCC	NP_000882.1:p.Ala306del	NC_000017.10:g.68172096_68172098delGCC	-	CN029864 115000 Cardiac arrhythmia
NM_000891.2(KCNJ2):c.935G>A (p.Arg312His)	3759	KCNJ2	Pathogenic	786205820	RCV000170994;	N	MedGen:CN029864,OMIM:115000	17	68172115	68172115	NM_000891.2:c.935G>A	NP_000882.1:p.Arg312His	NC_000017.10:g.68172115G>A	-	CN029864 115000 Cardiac arrhythmia
NM_000891.2(KCNJ2):c.*18T>C	3759	KCNJ2	Benign	786205132	RCV000126420;	N	MedGen:CN029864,OMIM:115000	17	68172482	68172482	NM_000891.2:c.*18T>C		NC_000017.10:g.68172482T>C	-	CN029864 115000 Cardiac arrhythmia
NM_000890.3(KCNJ5):c.634G>A (p.Asp212Asn)	3762	KCNJ5	Uncertain significance	786205823	RCV000171002;	N	MedGen:CN029864,OMIM:115000	11	128781802	128781802	NM_000890.3:c.634G>A	NP_000881.3:p.Asp212Asn	NC_000011.9:g.128781802G>A	-	CN029864 115000 Cardiac arrhythmia
NM_004982.3(KCNJ8):c.1182G>C (p.Arg394Ser)	3764	KCNJ8	Uncertain significance	730880120	RCV000157274;	N	MedGen:CN029864,OMIM:115000	12	21918750	21918750	NM_004982.3:c.1182G>C	NP_004973.1:p.Arg394Ser	NC_000012.11:g.21918750C>G	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.19C>T (p.Pro7Ser)	3784	KCNQ1	Pathogenic	199473443	RCV000182242; RCV000046041; RCV000057653;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2466347	2466347	NM_000218.2:c.19C>T	NP_000209.2:p.Pro7Ser	NC_000011.9:g.2466347C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro)	3784	KCNQ1	Likely benign;Pathogenic;Uncertain significance	397515877	RCV000114749; RCV000182075; RCV000205136; RCV000035343; RCV000046005;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1837014,OMIM:607554; MedGen:CN029864,OMIM:115000; MedGen:CN169374; MedGen:CN177655	11	2466488	2466496	NM_000218.2:c.160_168dupATCGCGCCC	NP_000209.2:p.Pro56_Gly57insIleAlaPro	NC_000011.9:g.2466488_2466496dupATCGCGCCC	OMIM Allelic Variant:607542.0041	C1837014 607554 Atrial fibrillation, familial, 3; CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype; CN169374 not specified
NM_000218.2(KCNQ1):c.165_187del23 (p.Gly57Cysfs)	3784	KCNQ1	Pathogenic	794728563	RCV000182290;	N	MedGen:CN029864,OMIM:115000	11	2466493	2466515	NM_000218.2:c.165_187del23	NP_000209.2:p.Gly57Cysfs	NC_000011.9:g.2466493_2466515del23	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.201_221del21 (p.Ala68_Pro74del)	3784	KCNQ1	Pathogenic	794728564	RCV000182291;	N	MedGen:CN029864,OMIM:115000	11	2466529	2466549	NM_000218.2:c.201_221del21	NP_000209.2:p.Ala68_Pro74del	NC_000011.9:g.2466529_2466549del21	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.217C>A (p.Pro73Thr)	3784	KCNQ1	Pathogenic	199472676	RCV000182249; RCV000046044; RCV000057655;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2466545	2466545	NM_000218.2:c.217C>A	NP_000209.2:p.Pro73Thr	NC_000011.9:g.2466545C>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.321G>T (p.Gln107His)	3784	KCNQ1	Likely pathogenic	794728552	RCV000182258;	N	MedGen:CN029864,OMIM:115000	11	2466649	2466649	NM_000218.2:c.321G>T	NP_000209.2:p.Gln107His	NC_000011.9:g.2466649G>T	-	CN029864 115000 Cardiac arrhythmia
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.425delT (p.Leu142Argfs)	3784	KCNQ1	Pathogenic	794728566	RCV000182293;	N	MedGen:CN029864,OMIM:115000	11	2549196	2549196	NM_000218.2:c.425delT	NP_000209.2:p.Leu142Argfs	NC_000011.9:g.2549196delT	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.448G>A (p.Ala150Thr)	3784	KCNQ1	Uncertain significance	794728577	RCV000182327;	N	MedGen:CN029864,OMIM:115000	11	2549219	2549219	NM_000218.2:c.448G>A	NP_000209.2:p.Ala150Thr	NC_000011.9:g.2549219G>A	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.488delT (p.Leu163Argfs)	3784	KCNQ1	Likely pathogenic;Pathogenic	397508112	RCV000182264; RCV000046064; RCV000217623;	N	MedGen:C0022387, Orphanet:ORPHA90647,SNOMED CT:373905003; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2591868	2591868	NM_000218.2:c.488delT	NP_000209.2:p.Leu163Argfs	NC_000011.9:g.2591868delT	-	CN029864 115000 Cardiac arrhythmia; C0022387 Jervell and Lange-Nielsen syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.499_501delTTC (p.Phe167del)	3784	KCNQ1	Pathogenic	794728555	RCV000182265;	N	MedGen:CN029864,OMIM:115000	11	2591879	2591881	NM_000218.2:c.499_501delTTC	NP_000209.2:p.Phe167del	NC_000011.9:g.2591879_2591881delTTC	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.502G>A (p.Gly168Arg)	3784	KCNQ1	Pathogenic	179489	RCV000182076; RCV000046066; RCV000057684;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2591882	2591882	NM_000218.2:c.502G>A	NP_000209.2:p.Gly168Arg	NC_000011.9:g.2591882G>A,NC_000011.9:g.2591882G>C	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.502G>C (p.Gly168Arg)	3784	KCNQ1	Pathogenic	179489	RCV000182077; RCV000046067; RCV000057685;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2591882	2591882	NM_000218.2:c.502G>C	NP_000209.2:p.Gly168Arg	NC_000011.9:g.2591882G>A,NC_000011.9:g.2591882G>C	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.521G>A (p.Arg174His)	3784	KCNQ1	Pathogenic	199472697	RCV000182079; RCV000046073; RCV000057690;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2591901	2591901	NM_000218.2:c.521G>A	NP_000209.2:p.Arg174His	NC_000011.9:g.2591901G>A,NC_000011.9:g.2591901G>C,NC_000011.9:g.2591901G>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser)	3784	KCNQ1	Likely benign;Pathogenic	199473394	RCV000182082; RCV000148544; RCV000046078; RCV000057694;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2591915	2591915	NM_000218.2:c.535G>A	NP_000209.2:p.Gly179Ser	NC_000011.9:g.2591915G>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.550T>C (p.Tyr184His)	3784	KCNQ1	Pathogenic	199473661	RCV000182297; RCV000057697;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	11	2591930	2591930	NM_000218.2:c.550T>C	NP_000209.2:p.Tyr184His	NC_000011.9:g.2591930T>C,NC_000011.9:g.2591930T>G	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000218.2(KCNQ1):c.551dupA (p.Tyr184Terfs)	3784	KCNQ1	Pathogenic	794728547	RCV000182247;	N	MedGen:CN029864,OMIM:115000	11	2591931	2591931	NM_000218.2:c.551dupA	NP_000209.2:p.Tyr184Terfs	NC_000011.9:g.2591931dupA	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.567dupG (p.Arg190Alafs)	3784	KCNQ1	Pathogenic	397508117	RCV000003273; RCV000182266; RCV000046086;	N	MedGen:CN029864,OMIM:115000; MedGen:CN034131,OMIM:220400; MedGen:CN177655	11	2591947	2591947	NM_000218.2:c.567dupG	NP_000209.2:p.Arg190Alafs	NC_000011.9:g.2591947dupG	OMIM Allelic Variant:607542.0014	CN029864 115000 Cardiac arrhythmia; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln)	3784	KCNQ1	Benign;Likely benign;Pathogenic	138362632	RCV000182087; RCV000057714;	N	MedGen:CN029864,OMIM:115000; MedGen:CN221809	11	2591964	2591964	NM_000218.2:c.584G>A	NP_000209.2:p.Arg195Gln	NC_000011.9:g.2591964G>A	-	CN029864 115000 Cardiac arrhythmia; CN221809 not provided
NM_000218.2(KCNQ1):c.603_604+9delCGGTGAGTCAT	3784	KCNQ1	Pathogenic	794728580	RCV000182331;	N	MedGen:CN029864,OMIM:115000	11	2591983	2591993	NM_000218.2:c.603_604+9delCGGTGAGTCAT		NC_000011.9:g.2591983_2591993delCGGTGAGTCAT	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.608T>C (p.Leu203Pro)	3784	KCNQ1	Pathogenic	199472823	RCV000182092; RCV000057720;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	11	2592558	2592558	NM_000218.2:c.608T>C	NP_000209.2:p.Leu203Pro	NC_000011.9:g.2592558T>C	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000218.2(KCNQ1):c.701A>C (p.Gln234Pro)	3784	KCNQ1	Pathogenic	794728570	RCV000182303;	N	MedGen:CN029864,OMIM:115000	11	2593260	2593260	NM_000218.2:c.701A>C	NP_000209.2:p.Gln234Pro	NC_000011.9:g.2593260A>C,NC_000011.9:g.2593260A>G	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.728G>A (p.Arg243His)	3784	KCNQ1	Pathogenic	120074196	RCV000046112; RCV000182305; RCV000057742;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN034131,OMIM:220400	11	2593287	2593287	NM_000218.2:c.728G>A	NP_000209.2:p.Arg243His	NC_000011.9:g.2593287G>A,NC_000011.9:g.2593287G>C	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1
NM_000218.2(KCNQ1):c.760G>T (p.Val254Leu)	3784	KCNQ1	Pathogenic	120074179	RCV000182110; RCV000046119; RCV000057751;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2593319	2593319	NM_000218.2:c.760G>T	NP_000209.2:p.Val254Leu	NC_000011.9:g.2593319G>A,NC_000011.9:g.2593319G>C,NC_000011.9:g.2593319G>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.760_768delGTGGTCTTC (p.Val254_Phe256del)	3784	KCNQ1	Pathogenic	397508124	RCV000182332; RCV000046120;	N	MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2593319	2593327	NM_000218.2:c.760_768delGTGGTCTTC	NP_000209.2:p.Val254_Phe256del	NC_000011.9:g.2593319_2593327delGTGGTCTTC	-	CN029864 115000 Cardiac arrhythmia; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys)	3784	KCNQ1	Pathogenic	199472719	RCV000182112; RCV000046123; RCV000057755;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	11	2593334	2593334	NM_000218.2:c.775C>T	NP_000209.2:p.Arg259Cys	NC_000011.9:g.2593334C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome
NM_000218.2(KCNQ1):c.781-14_781-13delGT	3784	KCNQ1	Benign;Likely benign	727503103	RCV000182069; RCV000150867;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	11	2594062	2594063	NM_000218.2:c.781-14_781-13delGT		NC_000011.9:g.2594062_2594063delGT	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_000218.2(KCNQ1):c.839T>A (p.Val280Glu)	3784	KCNQ1	Pathogenic	199473462	RCV000182124; RCV000046143; RCV000057777;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2594134	2594134	NM_000218.2:c.839T>A	NP_000209.2:p.Val280Glu	NC_000011.9:g.2594134T>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.919_921+9delGTGGTAAGTCGG	3784	KCNQ1	Pathogenic	794728557	RCV000182272;	N	MedGen:CN029864,OMIM:115000	11	2594214	2594225	NM_000218.2:c.919_921+9delGTGGTAAGTCGG		NC_000011.9:g.2594214_2594225delGTGGTAAGTCGG	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1004_1005delTT (p.Phe335Cysfs)	3784	KCNQ1	Pathogenic	794728581	RCV000182334;	N	MedGen:CN029864,OMIM:115000	11	2604747	2604748	NM_000218.2:c.1004_1005delTT	NP_000209.2:p.Phe335Cysfs	NC_000011.9:g.2604747_2604748delTT	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1016T>C (p.Phe339Ser)	3784	KCNQ1	Pathogenic	199472759	RCV000182311; RCV000045929; RCV000057525;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2604759	2604759	NM_000218.2:c.1016T>C	NP_000209.2:p.Phe339Ser	NC_000011.9:g.2604759T>A,NC_000011.9:g.2604759T>C	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1025T>C (p.Leu342Pro)	3784	KCNQ1	Pathogenic	794728522	RCV000182156;	N	MedGen:CN029864,OMIM:115000	11	2604768	2604768	NM_000218.2:c.1025T>C	NP_000209.2:p.Leu342Pro	NC_000011.9:g.2604768T>C	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1029_1031dupAGC (p.Ala344_Gly345insAla)	3784	KCNQ1	Likely pathogenic	794728559	RCV000182276;	N	MedGen:CN029864,OMIM:115000	11	2604772	2604774	NM_000218.2:c.1029_1031dupAGC	NP_000209.2:p.Ala344_Gly345insAla	NC_000011.9:g.2604772_2604774dupAGC	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1031C>T (p.Ala344Val)	3784	KCNQ1	Pathogenic	199472763	RCV000182158; RCV000045938; RCV000057534;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2604774	2604774	NM_000218.2:c.1031C>T	NP_000209.2:p.Ala344Val	NC_000011.9:g.2604774C>A,NC_000011.9:g.2604774C>G,NC_000011.9:g.2604774C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1031C>G (p.Ala344Gly)	3784	KCNQ1	Pathogenic	199472763	RCV000182313;	N	MedGen:CN029864,OMIM:115000	11	2604774	2604774	NM_000218.2:c.1031C>G	NP_000209.2:p.Ala344Gly	NC_000011.9:g.2604774C>A,NC_000011.9:g.2604774C>G,NC_000011.9:g.2604774C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1032+5dupG	3784	KCNQ1	Uncertain significance	794728560	RCV000182277;	N	MedGen:CN029864,OMIM:115000	11	2604780	2604780	NM_000218.2:c.1032+5dupG		NC_000011.9:g.2604780dupG	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1046C>G (p.Ser349Trp)	3784	KCNQ1	Pathogenic	199472765	RCV000182330; RCV000045946; RCV000057538;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2606455	2606455	NM_000218.2:c.1046C>G	NP_000209.2:p.Ser349Trp	NC_000011.9:g.2606455C>G	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1070A>G (p.Gln357Arg)	3784	KCNQ1	Pathogenic	199473405	RCV000182168; RCV000045952; RCV000057544;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2606479	2606479	NM_000218.2:c.1070A>G	NP_000209.2:p.Gln357Arg	NC_000011.9:g.2606479A>G	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter)	3784	KCNQ1	Pathogenic	397508075	RCV000182169; RCV000045954;	N	MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2606484	2606484	NM_000218.2:c.1075C>T	NP_000209.2:p.Gln359Ter	NC_000011.9:g.2606484C>T	-	CN029864 115000 Cardiac arrhythmia; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1078A>T (p.Arg360Trp)	3784	KCNQ1	Pathogenic	199473406	RCV000182170;	N	MedGen:CN029864,OMIM:115000	11	2606487	2606487	NM_000218.2:c.1078A>T	NP_000209.2:p.Arg360Trp	NC_000011.9:g.2606487A>G,NC_000011.9:g.2606487A>T	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1081C>T (p.Gln361Ter)	3784	KCNQ1	Pathogenic	794728571	RCV000182314;	N	MedGen:CN029864,OMIM:115000	11	2606490	2606490	NM_000218.2:c.1081C>T	NP_000209.2:p.Gln361Ter	NC_000011.9:g.2606490C>T	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg)	3784	KCNQ1	Pathogenic	199472768	RCV000057559; RCV000182179;	N	EFO:EFO_0005303,MedGen:C0038644,OMIM:272120,SNOMED CT:51178009; MedGen:CN029864,OMIM:115000	11	2608806	2608806	NM_000218.2:c.1135T>C	NP_000209.2:p.Trp379Arg	NC_000011.9:g.2608806T>C,NC_000011.9:g.2608806T>G	-	CN029864 115000 Cardiac arrhythmia; C0038644 272120 SUDDEN INFANT DEATH SYNDROME
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.1193A>G (p.Lys398Arg)	3784	KCNQ1	Pathogenic	199472777	RCV000182316; RCV000057572;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	11	2608864	2608864	NM_000218.2:c.1193A>G	NP_000209.2:p.Lys398Arg	NC_000011.9:g.2608864A>G	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000218.2(KCNQ1):c.1201dupC (p.Arg401Profs)	3784	KCNQ1	Pathogenic	397508082	RCV000182279; RCV000045976;	N	MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2608872	2608872	NM_000218.2:c.1201dupC	NP_000209.2:p.Arg401Profs	NC_000011.9:g.2608872dupC	-	CN029864 115000 Cardiac arrhythmia; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1251+2T>C	3784	KCNQ1	Pathogenic	794728528	RCV000182182;	N	MedGen:CN029864,OMIM:115000	11	2608924	2608924	NM_000218.2:c.1251+2T>C		NC_000011.9:g.2608924T>C	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1252delG (p.Val418Terfs)	3784	KCNQ1	Pathogenic	794728582	RCV000182335;	N	MedGen:CN029864,OMIM:115000	11	2609943	2609943	NM_000218.2:c.1252delG	NP_000209.2:p.Val418Terfs	NC_000011.9:g.2609943delG	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1291dupG (p.Val431Glyfs)	3784	KCNQ1	Pathogenic	397508085	RCV000182280; RCV000045979;	N	MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2609982	2609982	NM_000218.2:c.1291dupG	NP_000209.2:p.Val431Glyfs	NC_000011.9:g.2609982dupG	-	CN029864 115000 Cardiac arrhythmia; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1343delC (p.Pro448Glnfs)	3784	KCNQ1	Pathogenic	397508087	RCV000182281; RCV000045981;	N	MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2610034	2610034	NM_000218.2:c.1343delC	NP_000209.2:p.Pro448Glnfs	NC_000011.9:g.2610034delC	-	CN029864 115000 Cardiac arrhythmia; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1343dupC (p.Glu449Argfs)	3784	KCNQ1	Pathogenic	397508088	RCV000182282; RCV000045982;	N	MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2610034	2610034	NM_000218.2:c.1343dupC	NP_000209.2:p.Glu449Argfs	NC_000011.9:g.2610034dupC	-	CN029864 115000 Cardiac arrhythmia; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1343C>T (p.Pro448Leu)	3784	KCNQ1	Pathogenic;Uncertain significance	12720449	RCV000182185; RCV000057579;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	11	2610034	2610034	NM_000218.2:c.1343C>T	NP_000209.2:p.Pro448Leu	NC_000011.9:g.2610034C>A,NC_000011.9:g.2610034C>G,NC_000011.9:g.2610034C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000218.2(KCNQ1):c.1354C>T (p.Arg452Trp)	3784	KCNQ1	Likely pathogenic;Pathogenic;Uncertain significance	140452381	RCV000182188; RCV000148551; RCV000045984; RCV000057582;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2610045	2610045	NM_000218.2:c.1354C>T	NP_000209.2:p.Arg452Trp	NC_000011.9:g.2610045C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1355G>A (p.Arg452Gln)	3784	KCNQ1	Benign;Likely pathogenic	145229963	RCV000182189; RCV000057583;	N	MedGen:CN029864,OMIM:115000; MedGen:CN221809	11	2610046	2610046	NM_000218.2:c.1355G>A	NP_000209.2:p.Arg452Gln	NC_000011.9:g.2610046G>A,NC_000011.9:g.2610046G>T	-	CN029864 115000 Cardiac arrhythmia; CN221809 not provided
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter)	3784	KCNQ1	Pathogenic;Uncertain significance	17215500	RCV000003279; RCV000182196; RCV000148548; RCV000045997;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C4017089; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2790111	2790111	NM_000218.2:c.1552C>T	NP_000209.2:p.Arg518Ter	NC_000011.9:g.2790111C>G,NC_000011.9:g.2790111C>T	OMIM Allelic Variant:607542.0020	CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome; C4017089 Long QT syndrome 1, recessive; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1576A>G (p.Lys526Glu)	3784	KCNQ1	Pathogenic;Uncertain significance	199472792	RCV000182203; RCV000148558; RCV000046002; RCV000057602;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2790135	2790135	NM_000218.2:c.1576A>G	NP_000209.2:p.Lys526Glu	NC_000011.9:g.2790135A>G	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1588C>T (p.Gln530Ter)	3784	KCNQ1	Pathogenic	397508097	RCV000182204; RCV000046003;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:CN029864,OMIM:115000	11	2790147	2790147	NM_000218.2:c.1588C>T	NP_000209.2:p.Gln530Ter	NC_000011.9:g.2790147C>T	-	CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome
NM_000218.2(KCNQ1):c.1590+14T>C	3784	KCNQ1	Benign	11024034	RCV000030108; RCV000035342;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	11	2790163	2790163	NM_000218.2:c.1590+14T>C		NC_000011.9:g.2790163T>C	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_000218.2(KCNQ1):c.1597C>T (p.Arg533Trp)	3784	KCNQ1	Pathogenic;Uncertain significance	199472793	RCV000182205; RCV000057603;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	11	2797196	2797196	NM_000218.2:c.1597C>T	NP_000209.2:p.Arg533Trp	NC_000011.9:g.2797196C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome
NM_000218.2(KCNQ1):c.1615C>T (p.Arg539Trp)	3784	KCNQ1	Pathogenic	199472795	RCV000182206; RCV000046006; RCV000057604;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2797214	2797214	NM_000218.2:c.1615C>T	NP_000209.2:p.Arg539Trp	NC_000011.9:g.2797214C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1631A>T (p.Gln544Leu)	3784	KCNQ1	Likely pathogenic	794728574	RCV000182321;	N	MedGen:CN029864,OMIM:115000	11	2797230	2797230	NM_000218.2:c.1631A>T	NP_000209.2:p.Gln544Leu	NC_000011.9:g.2797230A>T	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1660delG (p.Val554Cysfs)	3784	KCNQ1	Pathogenic	794728561	RCV000182284;	N	MedGen:CN029864,OMIM:115000	11	2797259	2797259	NM_000218.2:c.1660delG	NP_000209.2:p.Val554Cysfs	NC_000011.9:g.2797259delG	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1685+1G>A	3784	KCNQ1	Pathogenic	794728531	RCV000182194;	N	MedGen:CN029864,OMIM:115000	11	2797285	2797285	NM_000218.2:c.1685+1G>A		NC_000011.9:g.2797285G>A	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1686delG (p.Arg562Serfs)	3784	KCNQ1	Pathogenic	794728562	RCV000182285;	N	MedGen:CN029864,OMIM:115000	11	2798216	2798216	NM_000218.2:c.1686delG	NP_000209.2:p.Arg562Serfs	NC_000011.9:g.2798216delG	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe)	3784	KCNQ1	Likely pathogenic;Pathogenic	199472804	RCV000182216; RCV000046015; RCV000057619;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000	11	2798227	2798227	NM_000218.2:c.1697C>T	NP_000209.2:p.Ser566Phe	NC_000011.9:g.2798227C>A,NC_000011.9:g.2798227C>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome
NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg)	3784	KCNQ1	Pathogenic	199472807	RCV000182218; RCV000046018; RCV000057622;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2798232	2798232	NM_000218.2:c.1702G>A	NP_000209.2:p.Gly568Arg	NC_000011.9:g.2798232G>A	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_000218.2(KCNQ1):c.1706A>G (p.Lys569Arg)	3784	KCNQ1	Likely pathogenic	794728575	RCV000182322;	N	MedGen:CN029864,OMIM:115000	11	2798236	2798236	NM_000218.2:c.1706A>G	NP_000209.2:p.Lys569Arg	NC_000011.9:g.2798236A>G	-	CN029864 115000 Cardiac arrhythmia
NM_000218.2(KCNQ1):c.1772G>A (p.Arg591His)	3784	KCNQ1	Pathogenic	199472814	RCV000182225; RCV000046029; RCV000057636;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN029864,OMIM:115000; MedGen:CN177655	11	2799245	2799245	NM_000218.2:c.1772G>A	NP_000209.2:p.Arg591His	NC_000011.9:g.2799245G>A,NC_000011.9:g.2799245G>T	-	CN029864 115000 Cardiac arrhythmia; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype
NM_013975.3(LIG3):c.1440T>C (p.Pro480=)	3980	LIG3	Likely benign	193922690	RCV000030144;	N	MedGen:CN029864,OMIM:115000	17	33319696	33319696	NM_013975.3:c.1440T>C	NP_039269.2:p.Pro480=	NC_000017.10:g.33319696T>C	-	CN029864 115000 Cardiac arrhythmia
NM_014697.2(NOS1AP):c.864C>T (p.Ser288=)	9722	NOS1AP	Likely benign	77473623	RCV000030341;	N	MedGen:CN029864,OMIM:115000	1	162326851	162326851	NM_014697.2:c.864C>T	NP_055512.1:p.Ser288=	NC_000001.10:g.162326851C>T	-	CN029864 115000 Cardiac arrhythmia
NM_014697.2(NOS1AP):c.1217C>T (p.Ala406Val)	9722	NOS1AP	Uncertain significance	34398505	RCV000030340;	N	MedGen:CN029864,OMIM:115000	1	162336953	162336953	NM_014697.2:c.1217C>T	NP_055512.1:p.Ala406Val	NC_000001.10:g.162336953C>T	-	CN029864 115000 Cardiac arrhythmia
NM_001035.2(RYR2):c.1134C>T (p.Asp378=)	6262	RYR2	Likely benign	193922621	RCV000030409; RCV000036659;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	1	237604747	237604747	NM_001035.2:c.1134C>T	NP_001026.2:p.Asp378=	NC_000001.10:g.237604747C>T	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_001035.2(RYR2):c.2267G>A (p.Ser756Asn)	6262	RYR2	Likely benign;Likely pathogenic;Uncertain significance	193922623	RCV000157446; RCV000030418; RCV000036714;	N	MedGen:C0340493,OMIM:603829,SNOMED CT:233915000; MedGen:CN029864,OMIM:115000; MedGen:CN169374	1	237664074	237664074	NM_001035.2:c.2267G>A	NP_001026.2:p.Ser756Asn	NC_000001.10:g.237664074G>A	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified; C0340493 603829 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL
NM_001035.2(RYR2):c.3251G>A (p.Arg1084Lys)	6262	RYR2	Likely benign;Uncertain significance	193922624	RCV000157452; RCV000030419; RCV000171675; RCV000036727;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:CN029864,OMIM:115000; MedGen:CN169374; MedGen:CN221809	1	237729903	237729903	NM_001035.2:c.3251G>A	NP_001026.2:p.Arg1084Lys	NC_000001.10:g.237729903G>A	-	CN029864 115000 Cardiac arrhythmia; CN221809 not provided; CN169374 not specified; C0007193 Primary dilated cardiomyopathy
NM_001035.2(RYR2):c.4040T>G (p.Met1347Arg)	6262	RYR2	Likely pathogenic	193922625	RCV000030421;	N	MedGen:CN029864,OMIM:115000	1	237754172	237754172	NM_001035.2:c.4040T>G	NP_001026.2:p.Met1347Arg	NC_000001.10:g.237754172T>G	-	CN029864 115000 Cardiac arrhythmia
NM_001035.2(RYR2):c.5586C>T (p.Asp1862=)	6262	RYR2	Benign;Likely benign	193922628	RCV000030424; RCV000036768;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	1	237778014	237778014	NM_001035.2:c.5586C>T	NP_001026.2:p.Asp1862=	NC_000001.10:g.237778014C>T	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_001035.2(RYR2):c.7488C>T (p.Leu2496=)	6262	RYR2	Benign	143906555	RCV000030428; RCV000036790;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	1	237811889	237811889	NM_001035.2:c.7488C>T	NP_001026.2:p.Leu2496=	NC_000001.10:g.237811889C>T	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_001035.2(RYR2):c.10230+20T>C	6262	RYR2	Uncertain significance	74323916	RCV000030407;	N	MedGen:CN029864,OMIM:115000	1	237872887	237872887	NM_001035.2:c.10230+20T>C		NC_000001.10:g.237872887T>C	-	CN029864 115000 Cardiac arrhythmia
NM_001035.2(RYR2):c.11557+19C>T	6262	RYR2	Benign;Uncertain significance	113408406	RCV000030410; RCV000180424;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	1	237934206	237934206	NM_001035.2:c.11557+19C>T		NC_000001.10:g.237934206C>T	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_001035.2(RYR2):c.14314G>A (p.Gly4772Ser)	6262	RYR2	Likely pathogenic	193922622	RCV000030413; RCV000182846;	N	MedGen:CN029864,OMIM:115000; MedGen:CN221809	1	237972216	237972216	NM_001035.2:c.14314G>A	NP_001026.2:p.Gly4772Ser	NC_000001.10:g.237972216G>A	-	CN029864 115000 Cardiac arrhythmia; CN221809 not provided
NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr)	6324	SCN1B	Benign	67486287	RCV000030435; RCV000127908;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	19	35524944	35524944	NM_001037.4:c.448+301G>C		NC_000019.9:g.35524944G>A,NC_000019.9:g.35524944G>C	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)	6324	SCN1B	Likely pathogenic	193922728	RCV000030436;	N	MedGen:CN029864,OMIM:115000	19	35524946	35524946	NM_199037.4:c.751G>A	NP_950238.1:p.Val251Ile	NC_000019.9:g.35524946G>A	-	CN029864 115000 Cardiac arrhythmia
NM_174934.3(SCN4B):c.632C>G (p.Thr211Arg)	6330	SCN4B	Uncertain significance	201454653	RCV000171077;	N	MedGen:CN029864,OMIM:115000	11	118007797	118007797	NM_174934.3:c.632C>G	NP_777594.1:p.Thr211Arg	NC_000011.9:g.118007797G>C	-	CN029864 115000 Cardiac arrhythmia
NM_174934.3(SCN4B):c.2T>G (p.Met1Arg)	6330	SCN4B	Uncertain significance	764844756	RCV000171078;	N	MedGen:CN029864,OMIM:115000	11	118023387	118023387	NM_174934.3:c.2T>G	NP_777594.1:p.Met1Arg	NC_000011.9:g.118023387A>C	-	CN029864 115000 Cardiac arrhythmia
NM_198056.2(SCN5A):c.4437+13C>T	6331	SCN5A	Benign;Uncertain significance	148598985	RCV000030441; RCV000154837;	N	MedGen:CN029864,OMIM:115000; MedGen:CN169374	3	38597919	38597919	NM_198056.2:c.4437+13C>T		NC_000003.11:g.38597919G>A	-	CN029864 115000 Cardiac arrhythmia; CN169374 not specified
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr)	6331	SCN5A	Benign;Pathogenic;risk factor	7626962	RCV000009992; RCV000009993; RCV000171820; RCV000204216; RCV000058563; RCV000041615;	N	EFO:EFO_0005303,MedGen:C0038644,OMIM:272120,SNOMED CT:51178009; MedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C1838527; MedGen:CN029864,OMIM:115000; MedGen:CN169374; MedGen:CN221809	3	38620907	38620907	NM_198056.2:c.3308C>A	NP_932173.1:p.Ser1103Tyr	NC_000003.11:g.38620907G>T	OMIM Allelic Variant:600163.0024	C1142166 Brugada syndrome; CN029864 115000 Cardiac arrhythmia; C1838527 Long qt syndrome 3, acquired, susceptibility to; CN221809 not provided; CN169374 not specified; C0038644 272120 SUDDEN INFANT DEATH SYNDROME
NM_198056.2(SCN5A):c.2976C>T (p.Pro992=)	6331	SCN5A	Likely benign	193922725	RCV000030438;	N	MedGen:CN029864,OMIM:115000	3	38622674	38622674	NM_198056.2:c.2976C>T	NP_932173.1:p.Pro992=	NC_000003.11:g.38622674G>A	-	CN029864 115000 Cardiac arrhythmia
NM_003098.2(SNTA1):c.1504G>A (p.Gly502Arg)	6640	SNTA1	Uncertain significance	768377696	RCV000171110;	N	MedGen:CN029864,OMIM:115000	20	31996327	31996327	NM_003098.2:c.1504G>A	NP_003089.1:p.Gly502Arg	NC_000020.10:g.31996327C>T	-	CN029864 115000 Cardiac arrhythmia
NM_003098.2(SNTA1):c.1484C>T (p.Ser495Leu)	6640	SNTA1	Uncertain significance	144006909	RCV000171109;	N	MedGen:CN029864,OMIM:115000	20	31996347	31996347	NM_003098.2:c.1484C>T	NP_003089.1:p.Ser495Leu	NC_000020.10:g.31996347G>A	-	CN029864 115000 Cardiac arrhythmia
NM_003098.2(SNTA1):c.1377C>T (p.Asp459=)	6640	SNTA1	Benign	146134721	RCV000128177;	N	MedGen:CN029864,OMIM:115000	20	31996555	31996555	NM_003098.2:c.1377C>T	NP_003089.1:p.Asp459=	NC_000020.10:g.31996555G>A	-	CN029864 115000 Cardiac arrhythmia
NM_003098.2(SNTA1):c.944T>G (p.Leu315Arg)	6640	SNTA1	Uncertain significance	754344254	RCV000171098;	N	MedGen:CN029864,OMIM:115000	20	32000198	32000198	NM_003098.2:c.944T>G	NP_003089.1:p.Leu315Arg	NC_000020.10:g.32000198A>C	-	CN029864 115000 Cardiac arrhythmia
NM_003098.2(SNTA1):c.388T>C (p.Phe130Leu)	6640	SNTA1	Uncertain significance	199964677	RCV000171112;	N	MedGen:CN029864,OMIM:115000	20	32026755	32026755	NM_003098.2:c.388T>C	NP_003089.1:p.Phe130Leu	NC_000020.10:g.32026755A>G	-	CN029864 115000 Cardiac arrhythmia
NM_003098.2(SNTA1):c.311-6G>C	6640	SNTA1	Uncertain significance	139532210	RCV000030457;	N	MedGen:CN029864,OMIM:115000	20	32026838	32026838	NM_003098.2:c.311-6G>C		NC_000020.10:g.32026838C>G,NC_000020.10:g.32026838C>T	-	CN029864 115000 Cardiac arrhythmia
NM_003098.2(SNTA1):c.311-6G>A	6640	SNTA1	Benign	139532210	RCV000171084;	N	MedGen:CN029864,OMIM:115000	20	32026838	32026838	NM_003098.2:c.311-6G>A		NC_000020.10:g.32026838C>G,NC_000020.10:g.32026838C>T	-	CN029864 115000 Cardiac arrhythmia
NM_003098.2(SNTA1):c.250C>T (p.Gln84Ter)	6640	SNTA1	Uncertain significance	786205842	RCV000171087;	N	MedGen:CN029864,OMIM:115000	20	32031177	32031177	NM_003098.2:c.250C>T	NP_003089.1:p.Gln84Ter	NC_000020.10:g.32031177G>A	-	CN029864 115000 Cardiac arrhythmia
NM_152906.5(TANGO2):c.57-1744_*10770del	128989	TANGO2	Pathogenic	-1	RCV000210032;	N	MedGen:C0025362,SNOMED CT:228156007,SNOMED CT:91138005; MedGen:CN029864,OMIM:115000; MedGen:CN232558; MedGen:CN232559; MedGen:CN232560	22	20029134	20062955	-	-		-	CN232560 Acute rhabdomyolysis; CN029864 115000 Cardiac arrhythmia; CN232559 Episodic flaccid weakness; C0025362 Intellectual functioning disability; CN232558 Seizures
NM_152906.5(TANGO2):c.146-3605_451+2245del	128989	TANGO2	Pathogenic	-1	RCV000210034;	N	MedGen:C0025362,SNOMED CT:228156007,SNOMED CT:91138005; MedGen:CN029864,OMIM:115000; MedGen:CN232558; MedGen:CN232559; MedGen:CN232560	22	20036383	20045781	NM_152906.5:c.146-3605_451+2245del			-	CN232560 Acute rhabdomyolysis; CN029864 115000 Cardiac arrhythmia; CN232559 Episodic flaccid weakness; C0025362 Intellectual functioning disability; CN232558 Seizures
NM_152906.6(TANGO2):c.460G>A (p.Gly154Arg)	128989	TANGO2	Pathogenic	752298579	RCV000210033; RCV000210337;	N	MedGen:C0025362,SNOMED CT:228156007,SNOMED CT:91138005; MedGen:CN029864,OMIM:115000; MedGen:CN232558; MedGen:CN232559; MedGen:CN232560; MedGen:CN235671,OMIM:616878	22	20049061	20049061	NM_152906.6:c.460G>A	NP_690870.3:p.Gly154Arg		OMIM Allelic Variant:616830.0001	CN232560 Acute rhabdomyolysis; CN029864 115000 Cardiac arrhythmia; CN232559 Episodic flaccid weakness; C0025362 Intellectual functioning disability; CN235671 616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmi
NM_152906.6(TANGO2):c.605+1G>A	128989	TANGO2	Pathogenic	372949028	RCV000210035; RCV000210343;	N	MedGen:C0025362,SNOMED CT:228156007,SNOMED CT:91138005; MedGen:CN029864,OMIM:115000; MedGen:CN232558; MedGen:CN232559; MedGen:CN232560; MedGen:CN235671,OMIM:616878	22	20049207	20049207	NM_152906.6:c.605+1G>A			OMIM Allelic Variant:616830.0003	CN232560 Acute rhabdomyolysis; CN029864 115000 Cardiac arrhythmia; CN232559 Episodic flaccid weakness; C0025362 Intellectual functioning disability; CN235671 616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmi