Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)	SNV Germline	Chr11:2572979	Pathogenic	Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008623	rs_120074186	5 SubmittersRCV000003275 RCV000057796 RCV000182130 RCV000622153 RCV001385529
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)	SNV Germline	Chr11:2572963	Conflicting classifications of pathogenicity	Long QT syndrome 1 Condition: not provided not specified Long QT syndrome Cardiovascular phenotype Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA008554	rs_120074187	15 SubmittersRCV000003276 RCV000057789 RCV000182128 RCV000541920 RCV000621158 RCV001102803 RCV001104722 RCV001841225
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	SNV Germline	Chr11:2768881	Likely pathogenic	Long QT syndrome 1, recessive Long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype Cardiac arrhythmia Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome KCNQ1-related disorder not specified	Reviewed By Expert Panel	CA005894	rs_17215500	30 SubmittersRCV000003279 RCV000148548 RCV000182196 RCV000515748 RCV000251958 RCV001841226 RCV001847566 RCV005256492 RCV000614524 RCV000779058 RCV000999897
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)	SNV Germline	Chr11:2778003	Pathogenic	Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA006328	rs_120074189	9 SubmittersRCV000003286 RCV000057632 RCV000046026 RCV000182221 RCV000619349 RCV003319300 RCV004732528
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)	SNV Germline	Chr11:2778009	Pathogenic	Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Condition: not provided Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome Cardiac arrhythmia Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1	Reviewed By Expert Panel	CA006347	rs_120074190	8 SubmittersRCV000003289 RCV000003288 RCV000182223 RCV000057633 RCV000622145 RCV000699476 RCV001841227 RCV001258106
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)	SNV Germline	Chr11:2777990	Conflicting classifications of pathogenicity	Acquired susceptibility to long QT syndrome 1 Long QT syndrome 1 Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Beckwith-Wiedemann syndrome Short QT syndrome type 2 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 KCNQ1-related disorder Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia Long QT syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA006297	rs_17221854	12 SubmittersRCV000003292 RCV000003291 RCV000057628 RCV000182219 RCV000762837 RCV001824559 RCV001851606 RCV004018545 RCV003591618 RCV005364866
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)	SNV Germline	Chr11:2572870	Pathogenic	Long QT syndrome 1 Congenital long QT syndrome Condition: not provided Long QT syndrome not specified Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008278	rs_120074193	13 SubmittersRCV000003294 RCV000057765 RCV000182118 RCV000477568 RCV001002562 RCV000762834 RCV002408447 RCV005402795
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	SNV Germline	Chr21:34449409	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome Jervell and Lange-Nielsen syndrome not specified Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA256867	rs_74315445	23 SubmittersRCV000014419 RCV000014420 RCV000148512 RCV000119080 RCV000222568 RCV000243273 RCV000471399 RCV000606753 RCV000678806 RCV005054138
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)	SNV Germline	Chr21:34449414	Conflicting classifications of pathogenicity	Long QT syndrome 5 Congenital long QT syndrome Long QT syndrome not specified Condition: not provided Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA256871	rs_74315446	8 SubmittersRCV000014421 RCV000119079 RCV000471661 RCV000603252 RCV003318541 RCV002482866 RCV004017244
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	SNV Germline	Chr21:34449382	Conflicting classifications of pathogenicity; other; risk factor	Long QT syndrome 2/5, digenic Long QT syndrome 5, acquired, susceptibility to not specified Condition: not provided Long QT syndrome Cardiovascular phenotype Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Cardiomyopathy Congenital long QT syndrome Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5	Criteria Provided Conflicting Classifications	CA123130	rs_1805128	21 SubmittersRCV000014423 RCV000014422 RCV000035353 RCV000057858 RCV000157255 RCV000247942 RCV000399257 RCV000709727 RCV000852954 RCV001195103 RCV003224097
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)	SNV Germline	Chr11:2585245	Pathogenic	Long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype Cardiac arrhythmia Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005143	rs_397508072	11 SubmittersRCV000045950 RCV000182167 RCV000678957 RCV002408545 RCV003155055 RCV001258105 RCV004017346
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	SNV Germline	Chr11:2585254	Pathogenic	Long QT syndrome Condition: not provided Cardiac arrhythmia Cardiovascular phenotype Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Long QT syndrome 1 KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA005174	rs_397508075	13 SubmittersRCV000045954 RCV000223715 RCV001841622 RCV000617465 RCV002496699 RCV003319304 RCV004732637
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	SNV Germline	Chr11:2585264	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Short QT syndrome type 2 Beckwith-Wiedemann syndrome Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Long QT syndrome 1 Cardiac arrhythmia KCNQ1-related disorder Short QT syndrome type 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Cardiovascular phenotype Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3	Criteria Provided Multiple Submitters No Conflicts	CA005223	rs_12720458	23 SubmittersRCV000045957 RCV000057548 RCV000223836 RCV000762835 RCV000851291 RCV001841623 RCV003335077 RCV003448253 RCV003162397 RCV003330078
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	SNV Germline	Chr11:2585275	Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype Jervell and Lange-Nielsen syndrome 1	Reviewed By Expert Panel	CA005255	rs_199473411	17 SubmittersRCV000057551 RCV000045959 RCV000182173 RCV000496023 RCV000617196 RCV004760361
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)	SNV Germline	Chr11:2585276	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Jervell and Lange-Nielsen syndrome 1 Long QT syndrome Cardiac arrhythmia Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA005263	rs_199473410	20 SubmittersRCV000057552 RCV000786152 RCV002251734 RCV001384915 RCV005401308 RCV002054871
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)	SNV Germline	Chr11:2587630	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided Long QT syndrome 1 Jervell and Lange-Nielsen syndrome Familial atrial fibrillation Cardiovascular phenotype Wolff-Parkinson-White pattern not specified Cardiac arrhythmia Long QT syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA005482	rs_199472776	17 SubmittersRCV000057571 RCV000148545 RCV000182181 RCV000203070 RCV000265217 RCV000356516 RCV000619428 RCV000656189 RCV000825350 RCV001841626 RCV002467560
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)	SNV Germline	Chr11:2588815	Conflicting classifications of pathogenicity	Cardiovascular phenotype Long QT syndrome Congenital long QT syndrome Condition: not provided Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Long QT syndrome 1 Short QT syndrome type 2 Beckwith-Wiedemann syndrome Cardiac arrhythmia Long QT syndrome 1	Criteria Provided Conflicting Classifications	CA005672	rs_140452381	11 SubmittersRCV000621439 RCV000148551 RCV000057582 RCV000224680 RCV000764974 RCV001841631 RCV001248784
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)	SNV Germline	Chr11:2768917	Pathogenic	Long QT syndrome Condition: not provided Long QT syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Cardiovascular phenotype Long QT syndrome 1 Cardiac arrhythmia Jervell and Lange-Nielsen syndrome 1 KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA005967	rs_397508097	17 SubmittersRCV000046003 RCV000182204 RCV000515204 RCV000619891 RCV001029805 RCV001841634 RCV001847642 RCV004528255
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	SNV Germline	Chr11:2775984	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 KCNQ1-related disorder Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005994	rs_199472795	14 SubmittersRCV000046006 RCV000057604 RCV000223851 RCV000762836 RCV004732638 RCV001248800 RCV002390194
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)	SNV Germline	Chr11:2776033	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Cardiac arrhythmia Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA006147	rs_199472800	13 SubmittersRCV000046012 RCV000057614 RCV000182212 RCV000619418 RCV003591637 RCV002483049 RCV003319308
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)	SNV Germline	Chr11:2776997	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 not specified Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA006211	rs_199472804	13 SubmittersRCV000046015 RCV000057619 RCV000223686 RCV000477954 RCV000678814 RCV002504937 RCV002399406
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)	SNV Germline	Chr11:2777002	Pathogenic/Likely pathogenic	Condition: not provided Congenital long QT syndrome not specified Cardiovascular phenotype Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006232	rs_199472807	8 SubmittersRCV000505735 RCV000057622 RCV000678815 RCV000250706 RCV002496701 RCV001192510
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	SNV Germline	Chr11:2778024	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Short QT syndrome type 2 Beckwith-Wiedemann syndrome Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Cardiac arrhythmia Atrial fibrillation, familial, 3 Short QT syndrome type 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA006388	rs_199472815	20 SubmittersRCV000057637 RCV000046031 RCV000182228 RCV000247524 RCV001258107 RCV002496702 RCV001731336 RCV003591639 RCV003224128
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)	SNV Germline	Chr11:2445117	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 1 not specified Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Cardiovascular phenotype Long QT syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA006651	rs_199473443	9 SubmittersRCV000057653 RCV000495985 RCV000454712 RCV002483050 RCV004018946 RCV001305107 RCV002223779
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	SNV Germline	Chr11:2570652	Pathogenic	Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 Condition: not provided Cardiovascular phenotype Cardiac arrhythmia Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA007263	rs_179489	14 SubmittersRCV000046066 RCV000057684 RCV000234807 RCV000223900 RCV000588586 RCV001841646 RCV004795976
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)	SNV Germline	Chr11:2570663	Pathogenic	Long QT syndrome Cardiovascular phenotype Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007295	rs_139042529	4 SubmittersRCV000046070 RCV004018949 RCV002490607 RCV005252717
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)	SNV Germline	Chr11:2570670	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiac arrhythmia Cardiovascular phenotype Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA007321	rs_199472696	13 SubmittersRCV000046072 RCV000057689 RCV000182078 RCV000587627 RCV001841647 RCV002345338 RCV002504938
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)	SNV Germline	Chr11:2570671	Pathogenic/Likely pathogenic	Condition: not provided Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007329	rs_199472697	9 SubmittersRCV000223741 RCV000057690 RCV000984322 RCV001386000 RCV002496703 RCV002336182
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)	SNV Germline	Chr11:2570682	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Cardiac arrhythmia Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA007353	rs_120074177	14 SubmittersRCV000057692 RCV000148553 RCV000182081 RCV000244422 RCV001028063 RCV003591642 RCV001258060
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)	SNV Germline	Chr11:2570718	Pathogenic/Likely pathogenic	Congenital long QT syndrome Cardiovascular phenotype Condition: not provided Long QT syndrome 1 Long QT syndrome Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007529	rs_199473662	13 SubmittersRCV000057705 RCV000244400 RCV001705704 RCV002259313 RCV001380572 RCV004795977 RCV005402830
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)	SNV Germline	Chr11:2570754	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007717	rs_199472702	13 SubmittersRCV000057718 RCV000182091 RCV001379267 RCV000620936 RCV002483052 RCV003236664 RCV003492374 RCV003591645
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	SNV Germline	Chr11:2571394	Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided Long QT syndrome 1 KCNQ1-related disorder Cardiac arrhythmia Cardiovascular phenotype Atrial fibrillation, familial, 3 Short QT syndrome type 2 Beckwith-Wiedemann syndrome Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1	Reviewed By Expert Panel	CA007870	rs_199473456	13 SubmittersRCV000057730 RCV000046103 RCV000182302 RCV001256914 RCV003335079 RCV001841649 RCV002362677 RCV002504939
NM_000218.3(KCNQ1):c.683+5G>A	SNV Germline	Chr11:2571408	Conflicting classifications of pathogenicity	Condition: not provided not specified Long QT syndrome 1 Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Short QT syndrome type 2 Long QT syndrome 1	Criteria Provided Conflicting Classifications	CA007901	rs_397508122	12 SubmittersRCV000182098 RCV001255476 RCV002267608 RCV001389794 RCV002362678 RCV001841650 RCV005042126
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)	SNV Germline	Chr11:2572021	Pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Atrial fibrillation, familial, 3 Long QT syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007925	rs_199472709	9 SubmittersRCV000046107 RCV000057734 RCV000182101 RCV000115007 RCV000115008 RCV000762833 RCV002371883
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)	SNV Germline	Chr11:2572057	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia Jervell and Lange-Nielsen syndrome Long QT syndrome 1 KCNQ1-related disorder Jervell and Lange-Nielsen syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA008018	rs_120074196	9 SubmittersRCV000057742 RCV001385528 RCV001841652 RCV003482908 RCV004786324 RCV004542713 RCV001807770 RCV002381343
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)	SNV Germline	Chr11:2572105	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 KCNQ1-related disorder Long QT syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Cardiac arrhythmia Short QT syndrome type 2 Cardiovascular phenotype Long QT syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Short QT syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA008184	rs_199472720	14 SubmittersRCV000046124 RCV000057756 RCV000182113 RCV000709733 RCV001813753 RCV001814031 RCV001841653 RCV001843471 RCV002408548 RCV004795978 RCV004819214
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)	SNV Germline	Chr11:2572862	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008262	rs_199473460	15 SubmittersRCV000046131 RCV000057763 RCV000182116 RCV000250332 RCV002483053 RCV004786325 RCV005401309
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)	SNV Germline	Chr11:2572880	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA008316	rs_199472726	6 SubmittersRCV000046134 RCV000057767 RCV000523854 RCV002415500 RCV002490608
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)	SNV Germline	Chr11:2572979	Pathogenic	Long QT syndrome Condition: not provided Cardiovascular phenotype Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Short QT syndrome type 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008615	rs_120074186	9 SubmittersRCV000046150 RCV000254708 RCV000619717 RCV002496704 RCV000826193 RCV001841658
NM_000218.3(KCNQ1):c.921+1G>T	SNV Germline	Chr11:2572987	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Long QT syndrome Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA008659	rs_397508130	5 SubmittersRCV000182134 RCV002444508 RCV001377884 RCV002496705
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)	SNV Germline	Chr11:2583478	Pathogenic	Condition: not provided Long QT syndrome Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome 1 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA008957	rs_199472755	7 SubmittersRCV000182149 RCV000190213 RCV000057831 RCV000247480 RCV004786326 RCV005357373
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)	SNV Germline	Chr11:2587620	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome not specified Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Short QT syndrome type 2 Cardiomyopathy Long QT syndrome 1 Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA005477	rs_12720457	22 SubmittersRCV000057570 RCV000148543 RCV000154657 RCV000305127 RCV000306809 RCV000394039 RCV000394030 RCV000852645 RCV001094051 RCV002336208 RCV001841659
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)	SNV Germline	Chr11:2588813	Conflicting classifications of pathogenicity	Long QT syndrome Condition: not provided Short QT syndrome type 2 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005664	rs_199472781	9 SubmittersRCV000148550 RCV000057581 RCV001104620 RCV001104829 RCV001104830 RCV001841665 RCV001104828 RCV002381370
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)	SNV Germline	Chr11:2588816	Conflicting classifications of pathogenicity	Long QT syndrome Condition: not provided Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Cardiac arrhythmia Atrial fibrillation, familial, 3 Short QT syndrome type 2 Long QT syndrome 1 Congenital long QT syndrome Cardiovascular phenotype Familial atrial fibrillation Jervell and Lange-Nielsen syndrome Short QT syndrome not specified	Criteria Provided Conflicting Classifications	CA005679	rs_145229963	10 SubmittersRCV000297971 RCV000057583 RCV000764975 RCV001841666 RCV003448257 RCV000284895 RCV000246256 RCV000337547 RCV000355198 RCV000398200 RCV001255594
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)	SNV Germline	Chr11:2768882	Conflicting classifications of pathogenicity	Long QT syndrome Congenital long QT syndrome Condition: not provided not specified Cardiac arrhythmia Cardiovascular phenotype Short QT syndrome type 2 Long QT syndrome 1 Beckwith-Wiedemann syndrome Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA005903	rs_145974930	10 SubmittersRCV000148557 RCV000057593 RCV000505803 RCV001824592 RCV001841668 RCV003162436 RCV002483092
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)	SNV Germline	Chr11:2768885	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Long QT syndrome 1 KCNQ1-related disorder Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005923	rs_199472788	9 SubmittersRCV000057596 RCV000543065 RCV000988473 RCV004537258 RCV001104916 RCV001104917 RCV001106072 RCV001841670 RCV004018993
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)	SNV Germline	Chr11:2847833	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Cardiac arrhythmia Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA006526	rs_199472820	8 SubmittersRCV000057646 RCV000471820 RCV000763730 RCV001841679 RCV003372614 RCV000484989
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)	SNV Germline	Chr11:2570733	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia Long QT syndrome 1 Atrial fibrillation, familial, 3 Short QT syndrome type 2 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Cardiovascular phenotype Atrial fibrillation not specified	Criteria Provided Conflicting Classifications	CA007637	rs_150172393	9 SubmittersRCV000057713 RCV000148554 RCV001841687 RCV002483094 RCV003162439 RCV004772836 RCV003993784
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)	SNV Germline	Chr11:2572885	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided not specified SUDDEN INFANT DEATH SYNDROME Long QT syndrome Atrial fibrillation, familial, 3 Cardiac arrhythmia Cardiovascular phenotype Short QT syndrome type 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA008353	rs_199472728	10 SubmittersRCV000057771 RCV000182121 RCV000219577 RCV000148546 RCV001080930 RCV001108025 RCV001841690 RCV002426616 RCV001108024 RCV001102797 RCV001108026
NM_000219.6(KCNE1):c.200G>A (p.Arg67His)	SNV Germline	Chr21:34449435	Conflicting classifications of pathogenicity	Long QT syndrome Congenital long QT syndrome Condition: not provided not specified Cardiovascular phenotype Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5	Criteria Provided Conflicting Classifications	CA211451	rs_79654911	11 SubmittersRCV000148517 RCV000119073 RCV000413332 RCV000223718 RCV000621667 RCV002492404 RCV001335180 RCV004777585
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)	SNV Germline	Chr21:34449310	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome not specified Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA211437	rs_77442996	10 SubmittersRCV000119090 RCV000148514 RCV000455774 RCV000678944 RCV002498541 RCV002444575
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)	SNV Germline	Chr21:34449261	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome not specified Jervell and Lange-Nielsen syndrome 2 Cardiovascular phenotype Long QT syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA176419	rs_142511345	10 SubmittersRCV000119091 RCV000148513 RCV000150856 RCV000321437 RCV000621107 RCV001094734 RCV001705874
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)	SNV Germline	Chr11:2572876	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiovascular phenotype Jervell and Lange-Nielsen syndrome 1 Long QT syndrome Short QT syndrome type 2 Cardiac arrhythmia Atrial fibrillation, familial, 3 Long QT syndrome 1	Criteria Provided Conflicting Classifications	CA008310	rs_189991547	12 SubmittersRCV000227652 RCV000150868 RCV000619503 RCV001108022 RCV001083007 RCV001108020 RCV001842425 RCV001108021 RCV001108023
NM_000218.3(KCNQ1):c.1394-8C>T	SNV Germline	Chr11:2661953	Conflicting classifications of pathogenicity	not specified Long QT syndrome Short QT syndrome type 2 Atrial fibrillation, familial, 3 Congenital long QT syndrome Condition: not provided Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA005747	rs_371488379	7 SubmittersRCV000155134 RCV000317191 RCV000387233 RCV000387984 RCV000295959 RCV000588614 RCV000348591 RCV001094054 RCV001842426
NM_000218.3(KCNQ1):c.1794+11G>A	SNV Germline	Chr11:2778048	Conflicting classifications of pathogenicity	not specified Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Atrial fibrillation, familial, 3 Congenital long QT syndrome Long QT syndrome	Criteria Provided Conflicting Classifications	CA006420	rs_186188610	5 SubmittersRCV000150872 RCV000323117 RCV000372585 RCV000376494 RCV000286804 RCV000321900 RCV002055644
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=)	SNV Germline	Chr11:2847916	Conflicting classifications of pathogenicity	not specified Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Atrial fibrillation, familial, 3 Long QT syndrome Short QT syndrome type 2 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006611	rs_201698592	6 SubmittersRCV000126442 RCV001103215 RCV001103216 RCV001105133 RCV000631840 RCV001105132 RCV001842429 RCV004019719
NM_000218.3(KCNQ1):c.-5T>C	SNV Germline	Chr11:2445094	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Congenital long QT syndrome Short QT syndrome type 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA007698	rs_532941548	12 SubmittersRCV000155746 RCV000242002 RCV000364999 RCV000270523 RCV000389967 RCV000307327 RCV000310463 RCV000725213
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)	SNV Germline	Chr11:2528000	Conflicting classifications of pathogenicity	Condition: not provided not specified Long QT syndrome Atrial fibrillation, familial, 3 Congenital long QT syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Cardiovascular phenotype Cardiac arrhythmia KCNQ1-related disorder	Criteria Provided Conflicting Classifications	CA007153	rs_148121889	15 SubmittersRCV000126447 RCV000180989 RCV000226452 RCV000291516 RCV000382303 RCV000327774 RCV000331279 RCV001094022 RCV000617278 RCV001842431 RCV004544261
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)	SNV Germline	Chr11:2847772	Conflicting classifications of pathogenicity	not specified Long QT syndrome Cardiovascular phenotype Atrial fibrillation, familial, 3 Short QT syndrome type 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia Condition: not provided	Criteria Provided Conflicting Classifications	CA006446	rs_147091980	13 SubmittersRCV000150874 RCV000205176 RCV000251316 RCV001103104 RCV001105015 RCV001103103 RCV001105014 RCV001842464 RCV001675635
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)	SNV Germline	Chr11:2572965	Conflicting classifications of pathogenicity	Long QT syndrome not specified Long QT syndrome 1 Atrial fibrillation, familial, 3 Short QT syndrome type 2 Condition: not provided Cardiac arrhythmia Cardiovascular phenotype KCNQ1-related disorder Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA008569	rs_727504769	10 SubmittersRCV000227118 RCV000156082 RCV001104725 RCV001104726 RCV001104723 RCV001711425 RCV001842489 RCV002372021 RCV004544447 RCV001104724
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)	SNV Germline	Chr11:2572979	Conflicting classifications of pathogenicity	Condition: not provided Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008627	rs_120074186	8 SubmittersRCV000182131 RCV001808461 RCV000678950 RCV002515312 RCV002372111
NM_000218.3(KCNQ1):c.1128+5G>A	SNV Germline	Chr11:2585312	Conflicting classifications of pathogenicity	Condition: not provided Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Long QT syndrome 1 Long QT syndrome Cardiac arrhythmia Hearing impairment Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005367	rs_76735093	9 SubmittersRCV000182177 RCV000764973 RCV001087240 RCV001842869 RCV001375390 RCV003165390
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn)	SNV Germline	Chr11:2588797	Conflicting classifications of pathogenicity	Condition: not provided Cardiac arrhythmia Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Long QT syndrome 1 Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005599	rs_149089817	6 SubmittersRCV000182184 RCV001842871 RCV002485201 RCV001852305 RCV002381589
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)	SNV Germline	Chr11:2662043	Conflicting classifications of pathogenicity	not specified Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome Cardiovascular phenotype Condition: not provided Cardiac arrhythmia Atrial fibrillation, familial, 3 Long QT syndrome 1	Criteria Provided Conflicting Classifications	CA005791	rs_370676650	10 SubmittersRCV000182073 RCV001103009 RCV001103011 RCV000472516 RCV000618365 RCV001701547 RCV001842867 RCV001103008 RCV001103010
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)	SNV Germline	Chr11:2777026	Conflicting classifications of pathogenicity	not specified Condition: not provided Long QT syndrome Cardiac arrhythmia Cardiovascular phenotype Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Long QT syndrome 1	Criteria Provided Conflicting Classifications	CA006291	rs_750409379	8 SubmittersRCV000182074 RCV000767090 RCV001048069 RCV001842868 RCV002399648 RCV000988474 RCV003227700
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)	SNV Germline	Chr11:2847958	Conflicting classifications of pathogenicity	Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 not specified Long QT syndrome Condition: not provided Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006628	rs_11601907	7 SubmittersRCV000259965 RCV000355003 RCV000455796 RCV000539698 RCV000767094 RCV001842874 RCV002415772
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=)	SNV Germline	Chr11:2587593	Conflicting classifications of pathogenicity	Long QT syndrome Atrial fibrillation, familial, 3 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Condition: not provided Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA027413	rs_144615901	6 SubmittersRCV000198522 RCV001108125 RCV001108126 RCV001108127 RCV001108128 RCV001682912 RCV002363014 RCV001842947
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)	SNV Germline	Chr11:2847847	Conflicting classifications of pathogenicity	Long QT syndrome Atrial fibrillation, familial, 3 Cardiovascular phenotype Jervell and Lange-Nielsen syndrome 1 Condition: not provided Short QT syndrome type 2 Long QT syndrome 1 Cardiac arrhythmia not specified KCNQ1-related disorder	Criteria Provided Conflicting Classifications	CA033482	rs_112113213	9 SubmittersRCV000231907 RCV000309382 RCV000253803 RCV000313609 RCV000341550 RCV000396200 RCV001093997 RCV001842987 RCV002282069 RCV004532836
NM_000218.3(KCNQ1):c.-38C>T	SNV Germline	Chr11:2445061	Conflicting classifications of pathogenicity	Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Condition: not provided Atrial fibrillation, familial, 3 Congenital long QT syndrome	Criteria Provided Conflicting Classifications	CA10630688	rs_886048160	2 SubmittersRCV000280671 RCV000314033 RCV000335178 RCV001612958 RCV000350171 RCV000396424
NM_000218.3(KCNQ1):c.1514+3G>A	SNV Germline	Chr11:2662084	Conflicting classifications of pathogenicity	Familial atrial fibrillation Short QT syndrome Jervell and Lange-Nielsen syndrome Congenital long QT syndrome not specified Cardiovascular phenotype Long QT syndrome Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA030306	rs_374767819	5 SubmittersRCV000262598 RCV000301238 RCV000302307 RCV000394376 RCV002265729 RCV002392838 RCV000359640 RCV001841255
NM_000218.3(KCNQ1):c.1514+9C>T	SNV Germline	Chr11:2662090	Conflicting classifications of pathogenicity	Long QT syndrome Congenital long QT syndrome Short QT syndrome type 2 Atrial fibrillation, familial, 3 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA10630689	rs_770840921	2 SubmittersRCV000261461 RCV000332919 RCV000274498 RCV000389901 RCV001093979 RCV000353824
NM_000218.3(KCNQ1):c.*717T>G	SNV Germline	Chr11:2848720	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3	Criteria Provided Conflicting Classifications	CA040104	rs_189162344	1 SubmittersRCV000281678 RCV000294571 RCV000330859 RCV000336506 RCV000385301
NM_000218.3(KCNQ1):c.1251+13C>T	SNV Germline	Chr11:2587705	Conflicting classifications of pathogenicity	Short QT syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation Congenital long QT syndrome Long QT syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA027925	rs_201364493	4 SubmittersRCV000285772 RCV000291801 RCV000325517 RCV000343082 RCV000382413 RCV000609343 RCV005230237
NM_000218.3(KCNQ1):c.*904T>C	SNV Germline	Chr11:2848907	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Congenital long QT syndrome Atrial fibrillation, familial, 3	Criteria Provided Conflicting Classifications	CA041331	rs_186055804	1 SubmittersRCV000297878 RCV000402784 RCV000403186 RCV000336717 RCV000361985
NM_000218.3(KCNQ1):c.*391G>A	SNV Germline	Chr11:2848394	Conflicting classifications of pathogenicity	Congenital long QT syndrome Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA036954	rs_774059974	1 SubmittersRCV000287778 RCV000326444 RCV000332475 RCV000383406 RCV000389143
NM_000218.3(KCNQ1):c.387-7C>T	SNV Germline	Chr11:2527921	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Congenital long QT syndrome Short QT syndrome type 2 Long QT syndrome Condition: not provided Long QT syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA036922	rs_201682200	6 SubmittersRCV000302203 RCV000305874 RCV000360571 RCV000399547 RCV000394457 RCV001718615 RCV001093927 RCV001843044
NM_000218.3(KCNQ1):c.*266G>A	SNV Germline	Chr11:2848269	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA034703	rs_113029000	1 SubmittersRCV000261351 RCV000353758 RCV000267398 RCV000324733 RCV000359681
NM_000218.3(KCNQ1):c.*837G>A	SNV Germline	Chr11:2848840	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Congenital long QT syndrome Short QT syndrome type 2 Condition: not provided Atrial fibrillation, familial, 3	Criteria Provided Conflicting Classifications	CA040916	rs_139633955	2 SubmittersRCV000260634 RCV000285283 RCV000315822 RCV000379709 RCV001778895 RCV000340166
NM_000218.3(KCNQ1):c.*1025G>C	SNV Germline	Chr11:2849028	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Atrial fibrillation, familial, 3 Short QT syndrome type 2 Long QT syndrome 1	Criteria Provided Conflicting Classifications	CA10638866	rs_181226788	1 SubmittersRCV000285348 RCV000375635 RCV000281297 RCV000336315 RCV000390924
NM_000219.6(KCNE1):c.*1338C>T	SNV Germline	Chr21:34447907	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Congenital long QT syndrome	Criteria Provided Conflicting Classifications	CA10644570	rs_74508995	1 SubmittersRCV000272120 RCV000306273 RCV000363260
NM_000219.6(KCNE1):c.*493C>T	SNV Germline	Chr21:34448752	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2	Criteria Provided Conflicting Classifications	CA10644593	rs_77190660	1 SubmittersRCV000355983 RCV000298871 RCV000407029
NM_000219.6(KCNE1):c.*30C>G	SNV Germline	Chr21:34449215	Conflicting classifications of pathogenicity	Congenital long QT syndrome Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA10644597	rs_150963475	2 SubmittersRCV000285233 RCV000315774 RCV000379652 RCV001613115
NM_000219.6(KCNE1):c.-377+13G>A	SNV Germline	Chr21:34512014	Conflicting classifications of pathogenicity	Long QT syndrome 5 Congenital long QT syndrome Jervell and Lange-Nielsen syndrome 2	Criteria Provided Conflicting Classifications	CA10644598	rs_41315351	1 SubmittersRCV000291090 RCV000345983 RCV000401874
NM_000219.6(KCNE1):c.*1574C>T	SNV Germline	Chr21:34447671	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Congenital long QT syndrome	Criteria Provided Conflicting Classifications	CA10650387	rs_561997378	1 SubmittersRCV000283367 RCV000322032 RCV000379193
NM_000219.6(KCNE1):c.*553A>G	SNV Germline	Chr21:34448692	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2	Criteria Provided Conflicting Classifications	CA10650389	rs_570907779	1 SubmittersRCV000304544 RCV000343221 RCV000401308
NM_000219.6(KCNE1):c.-82T>G	SNV Germline	Chr21:34458685	Conflicting classifications of pathogenicity	Congenital long QT syndrome Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5	Criteria Provided Conflicting Classifications	CA10650397	rs_145416040	1 SubmittersRCV000281665 RCV000337681 RCV000385302
NM_000219.6(KCNE1):c.-432G>A	SNV Germline	Chr21:34512082	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 2 Congenital long QT syndrome Long QT syndrome 5	Criteria Provided Conflicting Classifications	CA10650398	rs_539503433	1 SubmittersRCV000306727 RCV000408033 RCV000370758
NM_000219.6(KCNE1):c.*2001G>A	SNV Germline	Chr21:34447244	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 2 Congenital long QT syndrome Long QT syndrome 5	Criteria Provided Conflicting Classifications	CA10653509	rs_41314799	1 SubmittersRCV000302625 RCV000346988 RCV000392758
NM_000219.6(KCNE1):c.*373A>G	SNV Germline	Chr21:34448872	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 2 Congenital long QT syndrome Long QT syndrome 5	Criteria Provided Conflicting Classifications	CA10653531	rs_41314805	1 SubmittersRCV000281418 RCV000317913 RCV000372525
NM_000219.6(KCNE1):c.*196C>G	SNV Germline	Chr21:34449049	Conflicting classifications of pathogenicity	Long QT syndrome 5 Congenital long QT syndrome Jervell and Lange-Nielsen syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10653532	rs_76568182	2 SubmittersRCV000283759 RCV000347786 RCV000392389 RCV001636950
NM_000219.6(KCNE1):c.54G>A (p.Gln18=)	SNV Germline	Chr21:34449581	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Jervell and Lange-Nielsen syndrome 2 Cardiovascular phenotype not specified Long QT syndrome 5	Criteria Provided Conflicting Classifications	CA10653536	rs_149875299	4 SubmittersRCV000268131 RCV000304677 RCV000353483 RCV000620907 RCV005055903 RCV001094687
NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter)	SNV Germline	Chr11:2445213	Likely pathogenic	Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2	Criteria Provided Single Submitter	CA379116229	rs_1554958045	2 SubmittersRCV000656433 RCV005049544
NM_000218.3(KCNQ1):c.386+14C>T	SNV Germline	Chr11:2445498	Conflicting classifications of pathogenicity	not specified Long QT syndrome 1 Short QT syndrome type 2 Condition: not provided Long QT syndrome Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA035312	rs_370023636	5 SubmittersRCV000422020 RCV001102598 RCV001102599 RCV000726997 RCV002061409 RCV001107835 RCV001107836
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)	SNV Germline	Chr11:2571368	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Long QT syndrome not specified Cardiovascular phenotype Long QT syndrome 1 Short QT syndrome type 2 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA039362	rs_146350010	7 SubmittersRCV001104622 RCV001104624 RCV001438937 RCV000780366 RCV002367581 RCV001104621 RCV001104623 RCV001841365
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu)	SNV Germline	Chr11:2572964	Conflicting classifications of pathogenicity	Long QT syndrome Condition: not provided not specified Atrial fibrillation, familial, 3 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16613563	rs_1001293702	6 SubmittersRCV000470657 RCV001558264 RCV004701492 RCV003224284 RCV005348123
NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter)	SNV Germline	Chr11:2587616	Pathogenic	Long QT syndrome Condition: not provided Jervell and Lange-Nielsen syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16613564	rs_1060500629	3 SubmittersRCV000464076 RCV000786153 RCV004689741
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)	SNV Germline	Chr11:2571364	Conflicting classifications of pathogenicity	Long QT syndrome Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Short QT syndrome type 2 Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA039326	rs_368011737	3 SubmittersRCV000559784 RCV000764972 RCV004023761
NM_000219.6(KCNE1):c.-5C>A	SNV Germline	Chr21:34449639	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA320425589	rs_191334763	6 SubmittersRCV000607041 RCV000617837 RCV001139932 RCV001139933 RCV001553447
NM_000219.6(KCNE1):c.111C>T (p.Ser37=)	SNV Germline	Chr21:34449524	Conflicting classifications of pathogenicity	Long QT syndrome 5 not specified Cardiovascular phenotype Jervell and Lange-Nielsen syndrome 2	Criteria Provided Conflicting Classifications	CA320425470	rs_150458884	4 SubmittersRCV001137707 RCV000602828 RCV000617220 RCV001137706
NM_000218.3(KCNQ1):c.605-1G>C	SNV Germline	Chr11:2571324	Pathogenic/Likely pathogenic	Long QT syndrome Atrial fibrillation, familial, 3 Short QT syndrome type 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA379130370	rs_1564820372	2 SubmittersRCV000695220 RCV004796281
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val)	SNV Germline	Chr11:2585288	Conflicting classifications of pathogenicity	Long QT syndrome Condition: not provided Cardiac arrhythmia Cardiovascular phenotype Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation	Criteria Provided Conflicting Classifications	CA027096	rs_775362401	7 SubmittersRCV001203576 RCV001574714 RCV001841958 RCV002440609 RCV002501006 RCV004773133
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn)	SNV Germline	Chr11:2588836	Conflicting classifications of pathogenicity	Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Condition: not provided Cardiac arrhythmia Cardiovascular phenotype Short QT syndrome type 2 Long QT syndrome Atrial fibrillation, familial, 3	Criteria Provided Conflicting Classifications	CA028983	rs_747704276	6 SubmittersRCV001105970 RCV001105971 RCV001772029 RCV001841898 RCV002386338 RCV001105969 RCV001071913 RCV001105968
NM_000218.3(KCNQ1):c.1685+2T>G	SNV Germline	Chr11:2776056	Likely pathogenic	Congenital long QT syndrome Atrial fibrillation, familial, 3 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA379139256	rs_1590081467	2 SubmittersRCV000825590 RCV004796329
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)	SNV Germline	Chr11:2847802	Conflicting classifications of pathogenicity	Long QT syndrome Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Atrial fibrillation, familial, 3 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA033288	rs_774101297	5 SubmittersRCV000926516 RCV001105016 RCV001105017 RCV001105018 RCV001105019 RCV001842570 RCV004029517
NM_000218.3(KCNQ1):c.534C>T (p.Ala178=)	SNV Germline	Chr11:2570684	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Long QT syndrome Short QT syndrome type 2 Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA472037825	rs_1848319199	4 SubmittersRCV001102705 RCV001102706 RCV001433573 RCV001102708 RCV001102707 RCV003160632
NM_000218.3(KCNQ1):c.*81C>T	SNV Germline	Chr11:2848084	Conflicting classifications of pathogenicity	Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3	Criteria Provided Conflicting Classifications	CA040859	rs_771815387	1 SubmittersRCV001108484 RCV001108485 RCV001108486 RCV001108487
NM_000218.3(KCNQ1):c.780+12G>A	SNV Germline	Chr11:2572121	Conflicting classifications of pathogenicity	Long QT syndrome 1 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Long QT syndrome	Criteria Provided Conflicting Classifications	CA040368	rs_200796314	2 SubmittersRCV001107370 RCV001107368 RCV001107369 RCV001108019 RCV002067792
NM_000218.3(KCNQ1):c.921+12A>G	SNV Germline	Chr11:2572998	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Atrial fibrillation, familial, 3 Short QT syndrome type 2 Long QT syndrome	Criteria Provided Conflicting Classifications	CA1139661775	rs_1848365236	2 SubmittersRCV001104729 RCV001104727 RCV001104728 RCV001105872 RCV002069732
NM_000218.3(KCNQ1):c.1394-13A>G	SNV Germline	Chr11:2661948	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Long QT syndrome 1 Short QT syndrome type 2 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA029430	rs_747187696	2 SubmittersRCV001108205 RCV001108202 RCV001108203 RCV001108204 RCV003591844
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)	SNV Germline	Chr11:2662023	Conflicting classifications of pathogenicity	Condition: not provided Cardiac arrhythmia Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Short QT syndrome type 2 Long QT syndrome Cardiovascular phenotype KCNQ1-related disorder	Criteria Provided Conflicting Classifications	CA029975	rs_753256800	8 SubmittersRCV001751341 RCV001841033 RCV002480624 RCV002560015 RCV004619539 RCV004733172
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)	SNV Germline	Chr11:2778008	Conflicting classifications of pathogenicity	Long QT syndrome Condition: not provided Cardiac arrhythmia Atrial fibrillation, familial, 3 Long QT syndrome 1 Beckwith-Wiedemann syndrome Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA032686	rs_780676796	8 SubmittersRCV001233933 RCV002224008 RCV001843217 RCV002484008 RCV004033334 RCV003317443
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)	SNV Germline	Chr11:2847908	Conflicting classifications of pathogenicity	Long QT syndrome Cardiac arrhythmia Cardiovascular phenotype Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Short QT syndrome type 2	Criteria Provided Conflicting Classifications	CA033794	rs_763478809	5 SubmittersRCV001228890 RCV001841126 RCV002411719 RCV002484042
NM_000218.3(KCNQ1):c.1686-9T>C	SNV Germline	Chr11:2776977	Likely pathogenic	Jervell and Lange-Nielsen syndrome 1	Criteria Provided Single Submitter	CA1948314544	rs_1846716158	1 SubmittersRCV001290956
NM_000218.3(KCNQ1):c.1795-2A>G	SNV Germline	Chr11:2847765	Conflicting classifications of pathogenicity	Long QT syndrome Jervell and Lange-Nielsen syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA216345010	rs_867564993	3 SubmittersRCV002568952 RCV001822884 RCV002405229
NM_000218.3(KCNQ1):c.1106C>T (p.Pro369Leu)	SNV Germline	Chr11:2585285	Conflicting classifications of pathogenicity	Condition: not provided Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA379133900	rs_781369724	3 SubmittersRCV001824495 RCV002466703
NM_000218.3(KCNQ1):c.387-6394G>C	SNV Germline	Chr11:2521534	Conflicting classifications of pathogenicity	Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Short QT syndrome type 2 not specified	Criteria Provided Conflicting Classifications	CA036815	rs_528825731	2 SubmittersRCV003224696 RCV005406010
NM_000218.3(KCNQ1):c.1732+1G>T	SNV Germline	Chr11:2777033	Likely pathogenic	Jervell and Lange-Nielsen syndrome	Criteria Provided Single Submitter	CA379139350	rs_1846719993	1 SubmittersRCV004018241
NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter)	SNV Germline	Chr11:2572073	Pathogenic	Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3	Criteria Provided Single Submitter			1 SubmittersRCV004795678
NM_000218.3(KCNQ1):c.1686-2A>C	SNV Germline	Chr11:2776984	Likely pathogenic	Jervell and Lange-Nielsen syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004800044
NM_000218.3(KCNQ1):c.478-2A>G	SNV Germline	Chr11:2570626	Pathogenic	Jervell and Lange-Nielsen syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005053099
NM_000218.3(KCNQ1):c.912G>A (p.Trp304Ter)	SNV Germline	Chr11:2572977	Likely pathogenic	Jervell and Lange-Nielsen syndrome 1	No Assertion Criteria Provided			1 SubmittersRCV005621369

NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)

SNV
Germline

Chr11:2572979

Pathogenic

Jervell and Lange-Nielsen syndrome 1
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008623

rs_120074186

5 SubmittersRCV000003275 RCV000057796 RCV000182130 RCV000622153 RCV001385529

NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)

SNV
Germline

Chr11:2572963

Conflicting classifications of pathogenicity

Long QT syndrome 1
Condition: not provided
not specified
Long QT syndrome
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA008554

rs_120074187

15 SubmittersRCV000003276 RCV000057789 RCV000182128 RCV000541920 RCV000621158 RCV001102803 RCV001104722 RCV001841225

NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)

SNV
Germline

Chr11:2768881

Likely pathogenic

Long QT syndrome 1, recessive
Long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Congenital long QT syndrome
KCNQ1-related disorder
not specified

Reviewed By Expert Panel

CA005894

rs_17215500

30 SubmittersRCV000003279 RCV000148548 RCV000182196 RCV000515748 RCV000251958 RCV001841226 RCV001847566 RCV005256492 RCV000614524 RCV000779058 RCV000999897

NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)

SNV
Germline

Chr11:2778003

Pathogenic

Jervell and Lange-Nielsen syndrome 1
Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA006328

rs_120074189

9 SubmittersRCV000003286 RCV000057632 RCV000046026 RCV000182221 RCV000619349 RCV003319300 RCV004732528

NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)

SNV
Germline

Chr11:2778009

Pathogenic

Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Condition: not provided
Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Reviewed By Expert Panel

CA006347

rs_120074190

8 SubmittersRCV000003289 RCV000003288 RCV000182223 RCV000057633 RCV000622145 RCV000699476 RCV001841227 RCV001258106

NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)

SNV
Germline

Chr11:2777990

Conflicting classifications of pathogenicity

Acquired susceptibility to long QT syndrome 1
Long QT syndrome 1
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
KCNQ1-related disorder
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA006297

rs_17221854

12 SubmittersRCV000003292 RCV000003291 RCV000057628 RCV000182219 RCV000762837 RCV001824559 RCV001851606 RCV004018545 RCV003591618 RCV005364866

NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)

SNV
Germline

Chr11:2572870

Pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Condition: not provided
Long QT syndrome
not specified
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008278

rs_120074193

13 SubmittersRCV000003294 RCV000057765 RCV000182118 RCV000477568 RCV001002562 RCV000762834 RCV002408447 RCV005402795

NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)

SNV
Germline

Chr21:34449409

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 1
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Jervell and Lange-Nielsen syndrome
not specified
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA256867

rs_74315445

23 SubmittersRCV000014419 RCV000014420 RCV000148512 RCV000119080 RCV000222568 RCV000243273 RCV000471399 RCV000606753 RCV000678806 RCV005054138

NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)

SNV
Germline

Chr21:34449414

Conflicting classifications of pathogenicity

Long QT syndrome 5
Congenital long QT syndrome
Long QT syndrome
not specified
Condition: not provided
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA256871

rs_74315446

8 SubmittersRCV000014421 RCV000119079 RCV000471661 RCV000603252 RCV003318541 RCV002482866 RCV004017244

NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)

SNV
Germline

Chr21:34449382

Conflicting classifications of pathogenicity; other; risk factor

Long QT syndrome 2/5, digenic
Long QT syndrome 5, acquired, susceptibility to
not specified
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Cardiomyopathy
Congenital long QT syndrome
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA123130

rs_1805128

21 SubmittersRCV000014423 RCV000014422 RCV000035353 RCV000057858 RCV000157255 RCV000247942 RCV000399257 RCV000709727 RCV000852954 RCV001195103 RCV003224097

NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)

SNV
Germline

Chr11:2585245

Pathogenic

Long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Congenital long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005143

rs_397508072

11 SubmittersRCV000045950 RCV000182167 RCV000678957 RCV002408545 RCV003155055 RCV001258105 RCV004017346

NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)

SNV
Germline

Chr11:2585254

Pathogenic

Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Long QT syndrome 1
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA005174

rs_397508075

13 SubmittersRCV000045954 RCV000223715 RCV001841622 RCV000617465 RCV002496699 RCV003319304 RCV004732637

NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)

SNV
Germline

Chr11:2585264

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Short QT syndrome type 2
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1
Cardiac arrhythmia
KCNQ1-related disorder
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Cardiovascular phenotype
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA005223

rs_12720458

23 SubmittersRCV000045957 RCV000057548 RCV000223836 RCV000762835 RCV000851291 RCV001841623 RCV003335077 RCV003448253 RCV003162397 RCV003330078

NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)

SNV
Germline

Chr11:2585275

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 1

Reviewed By Expert Panel

CA005255

rs_199473411

17 SubmittersRCV000057551 RCV000045959 RCV000182173 RCV000496023 RCV000617196 RCV004760361

NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)

SNV
Germline

Chr11:2585276

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome
Cardiac arrhythmia
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005263

rs_199473410

20 SubmittersRCV000057552 RCV000786152 RCV002251734 RCV001384915 RCV005401308 RCV002054871

NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)

SNV
Germline

Chr11:2587630

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome
Familial atrial fibrillation
Cardiovascular phenotype
Wolff-Parkinson-White pattern
not specified
Cardiac arrhythmia
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA005482

rs_199472776

17 SubmittersRCV000057571 RCV000148545 RCV000182181 RCV000203070 RCV000265217 RCV000356516 RCV000619428 RCV000656189 RCV000825350 RCV001841626 RCV002467560

NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)

SNV
Germline

Chr11:2588815

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1
Short QT syndrome type 2
Beckwith-Wiedemann syndrome
Cardiac arrhythmia
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA005672

rs_140452381

11 SubmittersRCV000621439 RCV000148551 RCV000057582 RCV000224680 RCV000764974 RCV001841631 RCV001248784

NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)

SNV
Germline

Chr11:2768917

Pathogenic

Long QT syndrome
Condition: not provided
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Cardiovascular phenotype
Long QT syndrome 1
Cardiac arrhythmia
Jervell and Lange-Nielsen syndrome 1
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA005967

rs_397508097

17 SubmittersRCV000046003 RCV000182204 RCV000515204 RCV000619891 RCV001029805 RCV001841634 RCV001847642 RCV004528255

NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)

SNV
Germline

Chr11:2775984

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
KCNQ1-related disorder
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005994

rs_199472795

14 SubmittersRCV000046006 RCV000057604 RCV000223851 RCV000762836 RCV004732638 RCV001248800 RCV002390194

NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)

SNV
Germline

Chr11:2776033

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006147

rs_199472800

13 SubmittersRCV000046012 RCV000057614 RCV000182212 RCV000619418 RCV003591637 RCV002483049 RCV003319308

NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)

SNV
Germline

Chr11:2776997

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
not specified
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA006211

rs_199472804

13 SubmittersRCV000046015 RCV000057619 RCV000223686 RCV000477954 RCV000678814 RCV002504937 RCV002399406

NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)

SNV
Germline

Chr11:2777002

Pathogenic/Likely pathogenic

Condition: not provided
Congenital long QT syndrome
not specified
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006232

rs_199472807

8 SubmittersRCV000505735 RCV000057622 RCV000678815 RCV000250706 RCV002496701 RCV001192510

NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)

SNV
Germline

Chr11:2778024

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Cardiac arrhythmia
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006388

rs_199472815

20 SubmittersRCV000057637 RCV000046031 RCV000182228 RCV000247524 RCV001258107 RCV002496702 RCV001731336 RCV003591639 RCV003224128

NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)

SNV
Germline

Chr11:2445117

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 1
not specified
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA006651

rs_199473443

9 SubmittersRCV000057653 RCV000495985 RCV000454712 RCV002483050 RCV004018946 RCV001305107 RCV002223779

NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)

SNV
Germline

Chr11:2570652

Pathogenic

Long QT syndrome
Congenital long QT syndrome
Long QT syndrome 1
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007263

rs_179489

14 SubmittersRCV000046066 RCV000057684 RCV000234807 RCV000223900 RCV000588586 RCV001841646 RCV004795976

NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)

SNV
Germline

Chr11:2570663

Pathogenic

Long QT syndrome
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007295

rs_139042529

4 SubmittersRCV000046070 RCV004018949 RCV002490607 RCV005252717

NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)

SNV
Germline

Chr11:2570670

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007321

rs_199472696

13 SubmittersRCV000046072 RCV000057689 RCV000182078 RCV000587627 RCV001841647 RCV002345338 RCV002504938

NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)

SNV
Germline

Chr11:2570671

Pathogenic/Likely pathogenic

Condition: not provided
Congenital long QT syndrome
Long QT syndrome 1
Long QT syndrome
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007329

rs_199472697

9 SubmittersRCV000223741 RCV000057690 RCV000984322 RCV001386000 RCV002496703 RCV002336182

NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)

SNV
Germline

Chr11:2570682

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Cardiac arrhythmia
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007353

rs_120074177

14 SubmittersRCV000057692 RCV000148553 RCV000182081 RCV000244422 RCV001028063 RCV003591642 RCV001258060

NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)

SNV
Germline

Chr11:2570718

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome 1
Long QT syndrome
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007529

rs_199473662

13 SubmittersRCV000057705 RCV000244400 RCV001705704 RCV002259313 RCV001380572 RCV004795977 RCV005402830

NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)

SNV
Germline

Chr11:2570754

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007717

rs_199472702

13 SubmittersRCV000057718 RCV000182091 RCV001379267 RCV000620936 RCV002483052 RCV003236664 RCV003492374 RCV003591645

NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)

SNV
Germline

Chr11:2571394

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Long QT syndrome 1
KCNQ1-related disorder
Cardiac arrhythmia
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Reviewed By Expert Panel

CA007870

rs_199473456

13 SubmittersRCV000057730 RCV000046103 RCV000182302 RCV001256914 RCV003335079 RCV001841649 RCV002362677 RCV002504939

NM_000218.3(KCNQ1):c.683+5G>A

SNV
Germline

Chr11:2571408

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome 1
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA007901

rs_397508122

12 SubmittersRCV000182098 RCV001255476 RCV002267608 RCV001389794 RCV002362678 RCV001841650 RCV005042126

NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)

SNV
Germline

Chr11:2572021

Pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Atrial fibrillation, familial, 3
Long QT syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007925

rs_199472709

9 SubmittersRCV000046107 RCV000057734 RCV000182101 RCV000115007 RCV000115008 RCV000762833 RCV002371883

NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)

SNV
Germline

Chr11:2572057

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiac arrhythmia
Jervell and Lange-Nielsen syndrome
Long QT syndrome 1
KCNQ1-related disorder
Jervell and Lange-Nielsen syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008018

rs_120074196

9 SubmittersRCV000057742 RCV001385528 RCV001841652 RCV003482908 RCV004786324 RCV004542713 RCV001807770 RCV002381343

NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)

SNV
Germline

Chr11:2572105

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
KCNQ1-related disorder
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Cardiac arrhythmia
Short QT syndrome type 2
Cardiovascular phenotype
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Short QT syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA008184

rs_199472720

14 SubmittersRCV000046124 RCV000057756 RCV000182113 RCV000709733 RCV001813753 RCV001814031 RCV001841653 RCV001843471 RCV002408548 RCV004795978 RCV004819214

NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)

SNV
Germline

Chr11:2572862

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008262

rs_199473460

15 SubmittersRCV000046131 RCV000057763 RCV000182116 RCV000250332 RCV002483053 RCV004786325 RCV005401309

NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)

SNV
Germline

Chr11:2572880

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008316

rs_199472726

6 SubmittersRCV000046134 RCV000057767 RCV000523854 RCV002415500 RCV002490608

NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)

SNV
Germline

Chr11:2572979

Pathogenic

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Congenital long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008615

rs_120074186

9 SubmittersRCV000046150 RCV000254708 RCV000619717 RCV002496704 RCV000826193 RCV001841658

NM_000218.3(KCNQ1):c.921+1G>T

SNV
Germline

Chr11:2572987

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008659

rs_397508130

5 SubmittersRCV000182134 RCV002444508 RCV001377884 RCV002496705

NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)

SNV
Germline

Chr11:2583478

Pathogenic

Condition: not provided
Long QT syndrome
Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome 1
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008957

rs_199472755

7 SubmittersRCV000182149 RCV000190213 RCV000057831 RCV000247480 RCV004786326 RCV005357373

NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)

SNV
Germline

Chr11:2587620

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Congenital long QT syndrome
Short QT syndrome type 2
Cardiomyopathy
Long QT syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005477

rs_12720457

22 SubmittersRCV000057570 RCV000148543 RCV000154657 RCV000305127 RCV000306809 RCV000394039 RCV000394030 RCV000852645 RCV001094051 RCV002336208 RCV001841659

NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)

SNV
Germline

Chr11:2588813

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Cardiac arrhythmia
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005664

rs_199472781

9 SubmittersRCV000148550 RCV000057581 RCV001104620 RCV001104829 RCV001104830 RCV001841665 RCV001104828 RCV002381370

NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)

SNV
Germline

Chr11:2588816

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Cardiac arrhythmia
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Long QT syndrome 1
Congenital long QT syndrome
Cardiovascular phenotype
Familial atrial fibrillation
Jervell and Lange-Nielsen syndrome
Short QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA005679

rs_145229963

10 SubmittersRCV000297971 RCV000057583 RCV000764975 RCV001841666 RCV003448257 RCV000284895 RCV000246256 RCV000337547 RCV000355198 RCV000398200 RCV001255594

NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)

SNV
Germline

Chr11:2768882

Conflicting classifications of pathogenicity

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
not specified
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 2
Long QT syndrome 1
Beckwith-Wiedemann syndrome
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA005903

rs_145974930

10 SubmittersRCV000148557 RCV000057593 RCV000505803 RCV001824592 RCV001841668 RCV003162436 RCV002483092

NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)

SNV
Germline

Chr11:2768885

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 1
KCNQ1-related disorder
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005923

rs_199472788

9 SubmittersRCV000057596 RCV000543065 RCV000988473 RCV004537258 RCV001104916 RCV001104917 RCV001106072 RCV001841670 RCV004018993

NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)

SNV
Germline

Chr11:2847833

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA006526

rs_199472820

8 SubmittersRCV000057646 RCV000471820 RCV000763730 RCV001841679 RCV003372614 RCV000484989

NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)

SNV
Germline

Chr11:2570733

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiac arrhythmia
Long QT syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Cardiovascular phenotype
Atrial fibrillation
not specified

Criteria Provided
Conflicting Classifications

CA007637

rs_150172393

9 SubmittersRCV000057713 RCV000148554 RCV001841687 RCV002483094 RCV003162439 RCV004772836 RCV003993784

NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)

SNV
Germline

Chr11:2572885

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
not specified
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Atrial fibrillation, familial, 3
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA008353

rs_199472728

10 SubmittersRCV000057771 RCV000182121 RCV000219577 RCV000148546 RCV001080930 RCV001108025 RCV001841690 RCV002426616 RCV001108024 RCV001102797 RCV001108026

NM_000219.6(KCNE1):c.200G>A (p.Arg67His)

SNV
Germline

Chr21:34449435

Conflicting classifications of pathogenicity

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
not specified
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA211451

rs_79654911

11 SubmittersRCV000148517 RCV000119073 RCV000413332 RCV000223718 RCV000621667 RCV002492404 RCV001335180 RCV004777585

NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)

SNV
Germline

Chr21:34449310

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA211437

rs_77442996

10 SubmittersRCV000119090 RCV000148514 RCV000455774 RCV000678944 RCV002498541 RCV002444575

NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)

SNV
Germline

Chr21:34449261

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Jervell and Lange-Nielsen syndrome 2
Cardiovascular phenotype
Long QT syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA176419

rs_142511345

10 SubmittersRCV000119091 RCV000148513 RCV000150856 RCV000321437 RCV000621107 RCV001094734 RCV001705874

NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)

SNV
Germline

Chr11:2572876

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome
Short QT syndrome type 2
Cardiac arrhythmia
Atrial fibrillation, familial, 3
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA008310

rs_189991547

12 SubmittersRCV000227652 RCV000150868 RCV000619503 RCV001108022 RCV001083007 RCV001108020 RCV001842425 RCV001108021 RCV001108023

NM_000218.3(KCNQ1):c.1394-8C>T

SNV
Germline

Chr11:2661953

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Congenital long QT syndrome
Condition: not provided
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005747

rs_371488379

7 SubmittersRCV000155134 RCV000317191 RCV000387233 RCV000387984 RCV000295959 RCV000588614 RCV000348591 RCV001094054 RCV001842426

NM_000218.3(KCNQ1):c.1794+11G>A

SNV
Germline

Chr11:2778048

Conflicting classifications of pathogenicity

not specified
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006420

rs_186188610

5 SubmittersRCV000150872 RCV000323117 RCV000372585 RCV000376494 RCV000286804 RCV000321900 RCV002055644

NM_000218.3(KCNQ1):c.1944C>T (p.Val648=)

SNV
Germline

Chr11:2847916

Conflicting classifications of pathogenicity

not specified
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome
Short QT syndrome type 2
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006611

rs_201698592

6 SubmittersRCV000126442 RCV001103215 RCV001103216 RCV001105133 RCV000631840 RCV001105132 RCV001842429 RCV004019719

NM_000218.3(KCNQ1):c.-5T>C

SNV
Germline

Chr11:2445094

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Congenital long QT syndrome
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007698

rs_532941548

12 SubmittersRCV000155746 RCV000242002 RCV000364999 RCV000270523 RCV000389967 RCV000307327 RCV000310463 RCV000725213

NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)

SNV
Germline

Chr11:2528000

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome
Atrial fibrillation, familial, 3
Congenital long QT syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia
KCNQ1-related disorder

Criteria Provided
Conflicting Classifications

CA007153

rs_148121889

15 SubmittersRCV000126447 RCV000180989 RCV000226452 RCV000291516 RCV000382303 RCV000327774 RCV000331279 RCV001094022 RCV000617278 RCV001842431 RCV004544261

NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)

SNV
Germline

Chr11:2847772

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA006446

rs_147091980

13 SubmittersRCV000150874 RCV000205176 RCV000251316 RCV001103104 RCV001105015 RCV001103103 RCV001105014 RCV001842464 RCV001675635

NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)

SNV
Germline

Chr11:2572965

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Long QT syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
KCNQ1-related disorder
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA008569

rs_727504769

10 SubmittersRCV000227118 RCV000156082 RCV001104725 RCV001104726 RCV001104723 RCV001711425 RCV001842489 RCV002372021 RCV004544447 RCV001104724

NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)

SNV
Germline

Chr11:2572979

Conflicting classifications of pathogenicity

Condition: not provided
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008627

rs_120074186

8 SubmittersRCV000182131 RCV001808461 RCV000678950 RCV002515312 RCV002372111

NM_000218.3(KCNQ1):c.1128+5G>A

SNV
Germline

Chr11:2585312

Conflicting classifications of pathogenicity

Condition: not provided
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Long QT syndrome 1
Long QT syndrome
Cardiac arrhythmia
Hearing impairment
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005367

rs_76735093

9 SubmittersRCV000182177 RCV000764973 RCV001087240 RCV001842869 RCV001375390 RCV003165390

NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn)

SNV
Germline

Chr11:2588797

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Long QT syndrome 1
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005599

rs_149089817

6 SubmittersRCV000182184 RCV001842871 RCV002485201 RCV001852305 RCV002381589

NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)

SNV
Germline

Chr11:2662043

Conflicting classifications of pathogenicity

not specified
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia
Atrial fibrillation, familial, 3
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA005791

rs_370676650

10 SubmittersRCV000182073 RCV001103009 RCV001103011 RCV000472516 RCV000618365 RCV001701547 RCV001842867 RCV001103008 RCV001103010

NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)

SNV
Germline

Chr11:2777026

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA006291

rs_750409379

8 SubmittersRCV000182074 RCV000767090 RCV001048069 RCV001842868 RCV002399648 RCV000988474 RCV003227700

NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)

SNV
Germline

Chr11:2847958

Conflicting classifications of pathogenicity

Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
not specified
Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006628

rs_11601907

7 SubmittersRCV000259965 RCV000355003 RCV000455796 RCV000539698 RCV000767094 RCV001842874 RCV002415772

NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=)

SNV
Germline

Chr11:2587593

Conflicting classifications of pathogenicity

Long QT syndrome
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA027413

rs_144615901

6 SubmittersRCV000198522 RCV001108125 RCV001108126 RCV001108127 RCV001108128 RCV001682912 RCV002363014 RCV001842947

NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)

SNV
Germline

Chr11:2847847

Conflicting classifications of pathogenicity

Long QT syndrome
Atrial fibrillation, familial, 3
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 1
Condition: not provided
Short QT syndrome type 2
Long QT syndrome 1
Cardiac arrhythmia
not specified
KCNQ1-related disorder

Criteria Provided
Conflicting Classifications

CA033482

rs_112113213

9 SubmittersRCV000231907 RCV000309382 RCV000253803 RCV000313609 RCV000341550 RCV000396200 RCV001093997 RCV001842987 RCV002282069 RCV004532836

NM_000218.3(KCNQ1):c.-38C>T

SNV
Germline

Chr11:2445061

Conflicting classifications of pathogenicity

Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Condition: not provided
Atrial fibrillation, familial, 3
Congenital long QT syndrome

Criteria Provided
Conflicting Classifications

CA10630688

rs_886048160

2 SubmittersRCV000280671 RCV000314033 RCV000335178 RCV001612958 RCV000350171 RCV000396424

NM_000218.3(KCNQ1):c.1514+3G>A

SNV
Germline

Chr11:2662084

Conflicting classifications of pathogenicity

Familial atrial fibrillation
Short QT syndrome
Jervell and Lange-Nielsen syndrome
Congenital long QT syndrome
not specified
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA030306

rs_374767819

5 SubmittersRCV000262598 RCV000301238 RCV000302307 RCV000394376 RCV002265729 RCV002392838 RCV000359640 RCV001841255

NM_000218.3(KCNQ1):c.1514+9C>T

SNV
Germline

Chr11:2662090

Conflicting classifications of pathogenicity

Long QT syndrome
Congenital long QT syndrome
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA10630689

rs_770840921

2 SubmittersRCV000261461 RCV000332919 RCV000274498 RCV000389901 RCV001093979 RCV000353824

NM_000218.3(KCNQ1):c.*717T>G

SNV
Germline

Chr11:2848720

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3

Criteria Provided
Conflicting Classifications

CA040104

rs_189162344

1 SubmittersRCV000281678 RCV000294571 RCV000330859 RCV000336506 RCV000385301

NM_000218.3(KCNQ1):c.1251+13C>T

SNV
Germline

Chr11:2587705

Conflicting classifications of pathogenicity

Short QT syndrome
Jervell and Lange-Nielsen syndrome
Familial atrial fibrillation
Congenital long QT syndrome
Long QT syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027925

rs_201364493

4 SubmittersRCV000285772 RCV000291801 RCV000325517 RCV000343082 RCV000382413 RCV000609343 RCV005230237

NM_000218.3(KCNQ1):c.*904T>C

SNV
Germline

Chr11:2848907

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Congenital long QT syndrome
Atrial fibrillation, familial, 3

Criteria Provided
Conflicting Classifications

CA041331

rs_186055804

1 SubmittersRCV000297878 RCV000402784 RCV000403186 RCV000336717 RCV000361985

NM_000218.3(KCNQ1):c.*391G>A

SNV
Germline

Chr11:2848394

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA036954

rs_774059974

1 SubmittersRCV000287778 RCV000326444 RCV000332475 RCV000383406 RCV000389143

NM_000218.3(KCNQ1):c.387-7C>T

SNV
Germline

Chr11:2527921

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Congenital long QT syndrome
Short QT syndrome type 2
Long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA036922

rs_201682200

6 SubmittersRCV000302203 RCV000305874 RCV000360571 RCV000399547 RCV000394457 RCV001718615 RCV001093927 RCV001843044

NM_000218.3(KCNQ1):c.*266G>A

SNV
Germline

Chr11:2848269

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA034703

rs_113029000

1 SubmittersRCV000261351 RCV000353758 RCV000267398 RCV000324733 RCV000359681

NM_000218.3(KCNQ1):c.*837G>A

SNV
Germline

Chr11:2848840

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Congenital long QT syndrome
Short QT syndrome type 2
Condition: not provided
Atrial fibrillation, familial, 3

Criteria Provided
Conflicting Classifications

CA040916

rs_139633955

2 SubmittersRCV000260634 RCV000285283 RCV000315822 RCV000379709 RCV001778895 RCV000340166

NM_000218.3(KCNQ1):c.*1025G>C

SNV
Germline

Chr11:2849028

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Congenital long QT syndrome
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA10638866

rs_181226788

1 SubmittersRCV000285348 RCV000375635 RCV000281297 RCV000336315 RCV000390924

NM_000219.6(KCNE1):c.*1338C>T

SNV
Germline

Chr21:34447907

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Congenital long QT syndrome

Criteria Provided
Conflicting Classifications

CA10644570

rs_74508995

1 SubmittersRCV000272120 RCV000306273 RCV000363260

NM_000219.6(KCNE1):c.*493C>T

SNV
Germline

Chr21:34448752

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2

Criteria Provided
Conflicting Classifications

CA10644593

rs_77190660

1 SubmittersRCV000355983 RCV000298871 RCV000407029

NM_000219.6(KCNE1):c.*30C>G

SNV
Germline

Chr21:34449215

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10644597

rs_150963475

2 SubmittersRCV000285233 RCV000315774 RCV000379652 RCV001613115

NM_000219.6(KCNE1):c.-377+13G>A

SNV
Germline

Chr21:34512014

Conflicting classifications of pathogenicity

Long QT syndrome 5
Congenital long QT syndrome
Jervell and Lange-Nielsen syndrome 2

Criteria Provided
Conflicting Classifications

CA10644598

rs_41315351

1 SubmittersRCV000291090 RCV000345983 RCV000401874

NM_000219.6(KCNE1):c.*1574C>T

SNV
Germline

Chr21:34447671

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Congenital long QT syndrome

Criteria Provided
Conflicting Classifications

CA10650387

rs_561997378

1 SubmittersRCV000283367 RCV000322032 RCV000379193

NM_000219.6(KCNE1):c.*553A>G

SNV
Germline

Chr21:34448692

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2

Criteria Provided
Conflicting Classifications

CA10650389

rs_570907779

1 SubmittersRCV000304544 RCV000343221 RCV000401308

NM_000219.6(KCNE1):c.-82T>G

SNV
Germline

Chr21:34458685

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA10650397

rs_145416040

1 SubmittersRCV000281665 RCV000337681 RCV000385302

NM_000219.6(KCNE1):c.-432G>A

SNV
Germline

Chr21:34512082

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 2
Congenital long QT syndrome
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA10650398

rs_539503433

1 SubmittersRCV000306727 RCV000408033 RCV000370758

NM_000219.6(KCNE1):c.*2001G>A

SNV
Germline

Chr21:34447244

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 2
Congenital long QT syndrome
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA10653509

rs_41314799

1 SubmittersRCV000302625 RCV000346988 RCV000392758

NM_000219.6(KCNE1):c.*373A>G

SNV
Germline

Chr21:34448872

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 2
Congenital long QT syndrome
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA10653531

rs_41314805

1 SubmittersRCV000281418 RCV000317913 RCV000372525

NM_000219.6(KCNE1):c.*196C>G

SNV
Germline

Chr21:34449049

Conflicting classifications of pathogenicity

Long QT syndrome 5
Congenital long QT syndrome
Jervell and Lange-Nielsen syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653532

rs_76568182

2 SubmittersRCV000283759 RCV000347786 RCV000392389 RCV001636950

NM_000219.6(KCNE1):c.54G>A (p.Gln18=)

SNV
Germline

Chr21:34449581

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Jervell and Lange-Nielsen syndrome 2
Cardiovascular phenotype
not specified
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA10653536

rs_149875299

4 SubmittersRCV000268131 RCV000304677 RCV000353483 RCV000620907 RCV005055903 RCV001094687

NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter)

SNV
Germline

Chr11:2445213

Likely pathogenic

Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2

Criteria Provided
Single Submitter

CA379116229

rs_1554958045

2 SubmittersRCV000656433 RCV005049544

NM_000218.3(KCNQ1):c.386+14C>T

SNV
Germline

Chr11:2445498

Conflicting classifications of pathogenicity

not specified
Long QT syndrome 1
Short QT syndrome type 2
Condition: not provided
Long QT syndrome
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA035312

rs_370023636

5 SubmittersRCV000422020 RCV001102598 RCV001102599 RCV000726997 RCV002061409 RCV001107835 RCV001107836

NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)

SNV
Germline

Chr11:2571368

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome
not specified
Cardiovascular phenotype
Long QT syndrome 1
Short QT syndrome type 2
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA039362

rs_146350010

7 SubmittersRCV001104622 RCV001104624 RCV001438937 RCV000780366 RCV002367581 RCV001104621 RCV001104623 RCV001841365

NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu)

SNV
Germline

Chr11:2572964

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
not specified
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16613563

rs_1001293702

6 SubmittersRCV000470657 RCV001558264 RCV004701492 RCV003224284 RCV005348123

NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter)

SNV
Germline

Chr11:2587616

Pathogenic

Long QT syndrome
Condition: not provided
Jervell and Lange-Nielsen syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16613564

rs_1060500629

3 SubmittersRCV000464076 RCV000786153 RCV004689741

NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)

SNV
Germline

Chr11:2571364

Conflicting classifications of pathogenicity

Long QT syndrome
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA039326

rs_368011737

3 SubmittersRCV000559784 RCV000764972 RCV004023761

NM_000219.6(KCNE1):c.-5C>A

SNV
Germline

Chr21:34449639

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA320425589

rs_191334763

6 SubmittersRCV000607041 RCV000617837 RCV001139932 RCV001139933 RCV001553447

NM_000219.6(KCNE1):c.111C>T (p.Ser37=)

SNV
Germline

Chr21:34449524

Conflicting classifications of pathogenicity

Long QT syndrome 5
not specified
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 2

Criteria Provided
Conflicting Classifications

CA320425470

rs_150458884

4 SubmittersRCV001137707 RCV000602828 RCV000617220 RCV001137706

NM_000218.3(KCNQ1):c.605-1G>C

SNV
Germline

Chr11:2571324

Pathogenic/Likely pathogenic

Long QT syndrome
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379130370

rs_1564820372

2 SubmittersRCV000695220 RCV004796281

NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val)

SNV
Germline

Chr11:2585288

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation

Criteria Provided
Conflicting Classifications

CA027096

rs_775362401

7 SubmittersRCV001203576 RCV001574714 RCV001841958 RCV002440609 RCV002501006 RCV004773133

NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn)

SNV
Germline

Chr11:2588836

Conflicting classifications of pathogenicity

Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 2
Long QT syndrome
Atrial fibrillation, familial, 3

Criteria Provided
Conflicting Classifications

CA028983

rs_747704276

6 SubmittersRCV001105970 RCV001105971 RCV001772029 RCV001841898 RCV002386338 RCV001105969 RCV001071913 RCV001105968

NM_000218.3(KCNQ1):c.1685+2T>G

SNV
Germline

Chr11:2776056

Likely pathogenic

Congenital long QT syndrome
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA379139256

rs_1590081467

2 SubmittersRCV000825590 RCV004796329

NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)

SNV
Germline

Chr11:2847802

Conflicting classifications of pathogenicity

Long QT syndrome
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA033288

rs_774101297

5 SubmittersRCV000926516 RCV001105016 RCV001105017 RCV001105018 RCV001105019 RCV001842570 RCV004029517

NM_000218.3(KCNQ1):c.534C>T (p.Ala178=)

SNV
Germline

Chr11:2570684

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome
Short QT syndrome type 2
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA472037825

rs_1848319199

4 SubmittersRCV001102705 RCV001102706 RCV001433573 RCV001102708 RCV001102707 RCV003160632

NM_000218.3(KCNQ1):c.*81C>T

SNV
Germline

Chr11:2848084

Conflicting classifications of pathogenicity

Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3

Criteria Provided
Conflicting Classifications

CA040859

rs_771815387

1 SubmittersRCV001108484 RCV001108485 RCV001108486 RCV001108487

NM_000218.3(KCNQ1):c.780+12G>A

SNV
Germline

Chr11:2572121

Conflicting classifications of pathogenicity

Long QT syndrome 1
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA040368

rs_200796314

2 SubmittersRCV001107370 RCV001107368 RCV001107369 RCV001108019 RCV002067792

NM_000218.3(KCNQ1):c.921+12A>G

SNV
Germline

Chr11:2572998

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA1139661775

rs_1848365236

2 SubmittersRCV001104729 RCV001104727 RCV001104728 RCV001105872 RCV002069732

NM_000218.3(KCNQ1):c.1394-13A>G

SNV
Germline

Chr11:2661948

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1
Short QT syndrome type 2
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA029430

rs_747187696

2 SubmittersRCV001108205 RCV001108202 RCV001108203 RCV001108204 RCV003591844

NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)

SNV
Germline

Chr11:2662023

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Short QT syndrome type 2
Long QT syndrome
Cardiovascular phenotype
KCNQ1-related disorder

Criteria Provided
Conflicting Classifications

CA029975

rs_753256800

8 SubmittersRCV001751341 RCV001841033 RCV002480624 RCV002560015 RCV004619539 RCV004733172

NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)

SNV
Germline

Chr11:2778008

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Atrial fibrillation, familial, 3
Long QT syndrome 1
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA032686

rs_780676796

8 SubmittersRCV001233933 RCV002224008 RCV001843217 RCV002484008 RCV004033334 RCV003317443

NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)

SNV
Germline

Chr11:2847908

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Short QT syndrome type 2

Criteria Provided
Conflicting Classifications

CA033794

rs_763478809

5 SubmittersRCV001228890 RCV001841126 RCV002411719 RCV002484042

NM_000218.3(KCNQ1):c.1686-9T>C

SNV
Germline

Chr11:2776977

Likely pathogenic

Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Single Submitter

CA1948314544

rs_1846716158