Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)	SNV Germline	Chr17:70175251	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Single Submitter	CA254592	rs_104894575	3 SubmittersRCV000009473 RCV000058298 RCV001851763
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	SNV Germline	Chr17:70175691	Pathogenic/Likely pathogenic	Andersen Tawil syndrome Congenital long QT syndrome Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome Cardiovascular phenotype Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302041	rs_104894578	15 SubmittersRCV000009474 RCV000058326 RCV000170982 RCV000684775 RCV004018605 RCV005222677
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)	SNV Germline	Chr17:70175938	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA254594	rs_104894579	5 SubmittersRCV000009475 RCV000058332 RCV000170987 RCV002512943 RCV004629139
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)	SNV Germline	Chr17:70175238	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome Condition: not provided Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome not specified Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA302015	rs_104894580	12 SubmittersRCV000009478 RCV000058294 RCV000170971 RCV000763415 RCV000814909 RCV001000954 RCV002415408
NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu)	SNV Germline	Chr17:70175596	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome	No Assertion Criteria Provided	CA254596	rs_104894581	2 SubmittersRCV000058319 RCV000009479
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)	SNV Germline	Chr17:70175943	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome	No Assertion Criteria Provided	CA254598	rs_104894582	2 SubmittersRCV000009480 RCV000058333
NM_000891.3(KCNJ2):c.646A>C (p.Asn216His)	SNV Germline	Chr17:70175685	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome	No Assertion Criteria Provided	CA254600	rs_104894583	2 SubmittersRCV000009481 RCV000058324
NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn)	SNV Germline	Chr17:70175553	Pathogenic	Short QT syndrome type 3 Short QT syndrome Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Single Submitter	CA120002	rs_104894584	3 SubmittersRCV000009482 RCV000058318 RCV001384722
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)	SNV Germline	Chr17:70175263	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Single Submitter	CA254602	rs_104894585	3 SubmittersRCV000009483 RCV000058301 RCV001851764
NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe)	SNV Germline	Chr17:70175200	Pathogenic	Andersen Tawil syndrome Familial periodic paralysis	No Assertion Criteria Provided	CA145011	rs_199473650	2 SubmittersRCV000023027 RCV000058293
NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro)	SNV Germline	Chr17:70175952	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome	No Assertion Criteria Provided	CA259745	rs_199473387	2 SubmittersRCV000023028 RCV000058335
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)	SNV Germline	Chr17:70175316	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Atrial fibrillation Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA128946	rs_147750704	10 SubmittersRCV000023029 RCV000148540 RCV000170978 RCV000544361 RCV001127504 RCV001127505 RCV002433466 RCV003318334
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala)	SNV Germline/somatic	Chr11:128911745	Pathogenic	Familial hyperaldosteronism type III Aldosterone-producing adrenal adenoma, somatic Andersen Tawil syndrome	No Assertion Criteria Provided	CA128954	rs_387906778	2 SubmittersRCV000023035 RCV000122747 RCV000194572
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)	SNV Germline	Chr17:70175239	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 not specified Andersen Tawil syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302017	rs_199473368	5 SubmittersRCV000058295 RCV000170972 RCV001218636 RCV000678807 RCV004017374
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)	SNV Germline	Chr17:70175263	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA302067	rs_104894585	4 SubmittersRCV000058302 RCV000170993 RCV000644783 RCV004629147
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr)	SNV Germline	Chr17:70175271	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA329651	rs_199473372	2 SubmittersRCV000058303 RCV001246254
NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly)	SNV Germline	Chr17:70175272	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome	No Assertion Criteria Provided	CA329654	rs_199473371	2 SubmittersRCV000058304 RCV000157272
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)	SNV Germline	Chr17:70175283	Pathogenic	Ventricular tachycardia Andersen Tawil syndrome Short QT syndrome type 3 Supraventricular tachycardia Andersen Tawil syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA145013	rs_199473373	7 SubmittersRCV000058305 RCV000535797 RCV000678808 RCV001258373 RCV001703967 RCV002453375
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)	SNV Germline	Chr17:70175284	Pathogenic	Congenital long QT syndrome Cardiovascular phenotype Andersen Tawil syndrome Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA329657	rs_199473653	7 SubmittersRCV000058306 RCV000619060 RCV000466653 RCV000791354 RCV001575542 RCV004700362
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)	SNV Germline	Chr17:70175469	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Multiple Submitters No Conflicts	CA329666	rs_199473378	3 SubmittersRCV000058311 RCV001382882 RCV002470749
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)	SNV Germline	Chr17:70175470	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 1 Atrial fibrillation, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA329669	rs_199473377	5 SubmittersRCV000058312 RCV000644780 RCV001775567 RCV001535632 RCV001824594
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala)	SNV Germline	Chr17:70175470	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA329672	rs_199473377	3 SubmittersRCV000058313 RCV001057585 RCV003480051
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser)	SNV Germline	Chr17:70175475	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA329675	rs_199473654	2 SubmittersRCV000058314 RCV003764731
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala)	SNV Germline	Chr17:70175613	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome	Criteria Provided Single Submitter	CA329687	rs_199473382	2 SubmittersRCV000058321 RCV001258374
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)	SNV Germline	Chr17:70175614	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA329690	rs_199473655	2 SubmittersRCV000058322 RCV002513763
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)	SNV Germline	Chr17:70175683	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA329693	rs_199473383	2 SubmittersRCV000058323 RCV001388390
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)	SNV Germline	Chr17:70175692	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome Short QT syndrome type 3 Atrial fibrillation, familial, 9 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA329699	rs_199473384	10 SubmittersRCV000058327 RCV000157273 RCV000255682 RCV000791452 RCV002483105 RCV002362693
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)	SNV Germline	Chr17:70175938	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Multiple Submitters No Conflicts	CA329702	rs_104894579	4 SubmittersRCV000058330 RCV000194837 RCV001268135 RCV003764732
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)	SNV Germline	Chr17:70175952	Likely pathogenic	Cardiac arrhythmia Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Single Submitter	CA145022	rs_199473387	3 SubmittersRCV001841764 RCV001068766 RCV000678809
NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile)	SNV Germline	Chr17:70175965	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA329714	rs_199473388	2 SubmittersRCV000058338 RCV002513764
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)	SNV Germline	Chr17:70175973	Pathogenic/Likely pathogenic	Congenital long QT syndrome KCNJ2-related disorder Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA329717	rs_199473389	7 SubmittersRCV000058339 RCV003390761 RCV000443262 RCV001055449 RCV002054905 RCV004992005
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)	SNV Germline	Chr17:70176238	Conflicting classifications of pathogenicity	Long QT syndrome Condition: not provided Cardiovascular phenotype Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA211512	rs_144022753	6 SubmittersRCV000148542 RCV000170991 RCV000621624 RCV001850016
NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter)	SNV Germline	Chr17:70175157	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA302012	rs_786205811	3 SubmittersRCV000170970 RCV004020038 RCV003765066
NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly)	SNV Germline	Chr17:70175265	Conflicting classifications of pathogenicity	Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA302023	rs_786205812	2 SubmittersRCV000170974 RCV000471851
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys)	SNV Germline	Chr17:70175605	Likely pathogenic	Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302035	rs_199473381	2 SubmittersRCV000170980 RCV001852049
NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu)	SNV Germline	Chr17:70175692	Conflicting classifications of pathogenicity	Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA302043	rs_199473384	2 SubmittersRCV000170983 RCV000470921
NM_000891.3(KCNJ2):c.901A>G (p.Met301Val)	SNV Germline	Chr17:70175940	Conflicting classifications of pathogenicity	Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA302055	rs_786205818	2 SubmittersRCV000170988 RCV000702725
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	SNV Germline	Chr17:70175974	Pathogenic/Likely pathogenic	Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome Andersen Tawil syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302070	rs_786205820	5 SubmittersRCV000170994 RCV000644779 RCV002054023
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)	SNV Germline	Chr17:70176012	Conflicting classifications of pathogenicity	Condition: not provided Ventricular fibrillation Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA302073	rs_202067116	5 SubmittersRCV000170995 RCV000208475 RCV000496264 RCV000816436 RCV002372065
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys)	SNV Germline	Chr17:70176084	Conflicting classifications of pathogenicity	Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome Short QT syndrome type 3 Atrial fibrillation, familial, 9 Andersen Tawil syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA302061	rs_375330016	4 SubmittersRCV000170990 RCV000689013 RCV002505231 RCV002399608
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)	SNV Germline	Chr17:70176268	Conflicting classifications of pathogenicity	not specified Andersen Tawil syndrome Atrial fibrillation, familial, 9 Short QT syndrome type 3 Cardiovascular phenotype Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA302006	rs_141069645	7 SubmittersRCV000170968 RCV000289555 RCV000346966 RCV000385149 RCV000618240 RCV000755556 RCV001083244
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu)	SNV Germline	Chr17:70176283	Conflicting classifications of pathogenicity	Condition: not provided Andersen Tawil syndrome Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA302064	rs_373799322	6 SubmittersRCV000757418 RCV002505232 RCV001067159 RCV002390406
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)	SNV Germline	Chr17:70175250	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA085820	rs_199473369	2 SubmittersRCV000208360 RCV001067168
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)	SNV Germline	Chr17:70176298	Conflicting classifications of pathogenicity	Cardiovascular phenotype Andersen Tawil syndrome Short QT syndrome Familial atrial fibrillation Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Conflicting Classifications	CA8738815	rs_749707062	3 SubmittersRCV000248675 RCV000350551 RCV000293237 RCV000407751 RCV000864113
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)	SNV Germline	Chr17:70175655	Conflicting classifications of pathogenicity	not specified Short QT syndrome type 3 Andersen Tawil syndrome Condition: not provided Cardiovascular phenotype Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA8738751	rs_141035459	6 SubmittersRCV000340562 RCV000644781 RCV000724926 RCV002356365 RCV002503981
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)	SNV Germline	Chr17:70175207	Conflicting classifications of pathogenicity	Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8738697	rs_370111593	4 SubmittersRCV000329826 RCV001088349 RCV002411154
NM_000891.3(KCNJ2):c.-349C>A	SNV Germline	Chr17:70169569	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10640370	rs_370696463	2 SubmittersRCV000282434 RCV000336432 RCV000392632 RCV002263022
NM_000891.3(KCNJ2):c.-314T>C	SNV Germline	Chr17:70169604	Conflicting classifications of pathogenicity	Short QT syndrome type 3 Atrial fibrillation, familial, 9 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA10640372	rs_566186294	1 SubmittersRCV000305228 RCV000337525 RCV000392628
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)	SNV Germline	Chr17:70175158	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Atrial fibrillation, familial, 9 Short QT syndrome type 3 Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome Cardiovascular phenotype SUDDEN INFANT DEATH SYNDROME Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA8738692	rs_766143485	7 SubmittersRCV000308982 RCV000347359 RCV000406881 RCV000489623 RCV000795350 RCV002348069 RCV001788198 RCV002487428
NM_000891.3(KCNJ2):c.*211T>C	SNV Germline	Chr17:70176534	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10640379	rs_56194813	2 SubmittersRCV000293517 RCV000328633 RCV000385476 RCV002510863
NM_000891.3(KCNJ2):c.*3163T>A	SNV Germline	Chr17:70179486	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10640415	rs_149224363	2 SubmittersRCV000370704 RCV000313757 RCV000393822 RCV003311757
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=)	SNV Germline	Chr17:70175570	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8738740	rs_544384907	3 SubmittersRCV000277106 RCV000297116 RCV000354080 RCV000533744 RCV002348070
NM_000891.3(KCNJ2):c.*996C>T	SNV Germline	Chr17:70177319	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Conflicting Classifications	CA10646624	rs_77958248	1 SubmittersRCV000313830 RCV000403317 RCV000371373
NM_000891.3(KCNJ2):c.*2754T>C	SNV Germline	Chr17:70179077	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10646636	rs_9915769	2 SubmittersRCV000260451 RCV000315788 RCV000355220 RCV001653585
NM_000891.3(KCNJ2):c.-228C>T	SNV Germline	Chr17:70169690	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 3 not specified	Criteria Provided Conflicting Classifications	CA10649953	rs_765064661	2 SubmittersRCV000271205 RCV000330931 RCV000365619 RCV000421621
NM_000891.3(KCNJ2):c.-195C>G	SNV Germline	Chr17:70174845	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10649954	rs_544342049	2 SubmittersRCV000277293 RCV000332229 RCV000367178 RCV001672539
NM_000891.3(KCNJ2):c.*79C>T	SNV Germline	Chr17:70176402	Conflicting classifications of pathogenicity	Short QT syndrome type 3 Atrial fibrillation, familial, 9 Andersen Tawil syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10649957	rs_55970278	2 SubmittersRCV000315527 RCV000335341 RCV000406151 RCV001613047
NM_000891.3(KCNJ2):c.*732T>G	SNV Germline	Chr17:70177055	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Atrial fibrillation, familial, 9 Short QT syndrome type 3	Criteria Provided Conflicting Classifications	CA10649963	rs_150985434	1 SubmittersRCV000284063 RCV000341449 RCV000376289
NM_000891.3(KCNJ2):c.*766C>T	SNV Germline	Chr17:70177089	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Conflicting Classifications	CA10649964	rs_186842823	1 SubmittersRCV000288334 RCV000345739 RCV000407019
NM_000891.3(KCNJ2):c.*1815G>A	SNV Germline	Chr17:70178138	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA10649977	rs_552577704	1 SubmittersRCV000297104 RCV000370451 RCV000406942
NM_000891.3(KCNJ2):c.*2262C>T	SNV Germline	Chr17:70178585	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10649979	rs_575383136	2 SubmittersRCV000272911 RCV000382521 RCV000327997 RCV003409514
NM_000891.3(KCNJ2):c.*2893C>T	SNV Germline	Chr17:70179216	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Atrial fibrillation, familial, 9 Short QT syndrome type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10649993	rs_137870461	2 SubmittersRCV000302201 RCV000340552 RCV000399473 RCV003418020
NM_000891.3(KCNJ2):c.*3208A>G	SNV Germline	Chr17:70179531	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Atrial fibrillation, familial, 9 Short QT syndrome type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10650823	rs_188533495	2 SubmittersRCV000273825 RCV000364539 RCV000330837 RCV003422290
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=)	SNV Germline	Chr17:70176293	Conflicting classifications of pathogenicity	not specified Short QT syndrome type 3 Andersen Tawil syndrome Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8738812	rs_748445140	4 SubmittersRCV000430762 RCV001451983 RCV001127604 RCV001127605 RCV001127606 RCV002411294
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=)	SNV Germline	Chr17:70175906	Conflicting classifications of pathogenicity	not specified Short QT syndrome type 3 Andersen Tawil syndrome Andersen Tawil syndrome Cardiovascular phenotype Short QT syndrome type 3 Atrial fibrillation, familial, 9	Criteria Provided Conflicting Classifications	CA8738775	rs_201909993	4 SubmittersRCV000438204 RCV000864664 RCV001125505 RCV000622080 RCV001125504 RCV001125506
NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu)	SNV Germline	Chr17:70175940	Conflicting classifications of pathogenicity	Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA16608631	rs_786205818	2 SubmittersRCV000435544 RCV000535723
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)	SNV Germline	Chr17:70175247	Conflicting classifications of pathogenicity	Short QT syndrome type 3 Andersen Tawil syndrome Condition: not provided Cardiovascular phenotype Short QT syndrome type 3 Andersen Tawil syndrome Atrial fibrillation, familial, 9 not specified	Criteria Provided Conflicting Classifications	CA8738699	rs_375605948	6 SubmittersRCV000459178 RCV001508993 RCV002418347 RCV002488997 RCV003479121
NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter)	SNV Germline	Chr17:70175721	Pathogenic	Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Single Submitter	CA16615988	rs_1060500053	1 SubmittersRCV001382646
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro)	SNV Germline	Chr17:70175692	Likely pathogenic	Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Multiple Submitters No Conflicts	CA400861474	rs_199473384	2 SubmittersRCV000493695 RCV001856985
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr)	SNV Germline	Chr17:70175398	Conflicting classifications of pathogenicity	Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8738720	rs_375646186	4 SubmittersRCV000497313 RCV001302677 RCV002341174
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)	SNV Germline	Chr17:70175300	Conflicting classifications of pathogenicity	Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA501700455	rs_1166497262	3 SubmittersRCV000520511 RCV000644785 RCV003159684
NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)	SNV Germline	Chr17:70175754	Pathogenic	Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Single Submitter	CA400861763	rs_1555603974	1 SubmittersRCV001389262
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)	SNV Germline	Chr17:70175884	Conflicting classifications of pathogenicity	Short QT syndrome type 3 Andersen Tawil syndrome Andersen Tawil syndrome Short QT syndrome type 3 Atrial fibrillation, familial, 9 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8738768	rs_758092571	5 SubmittersRCV000559682 RCV001124495 RCV001124496 RCV001125503 RCV002223868 RCV002448726
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)	SNV Germline	Chr17:70175958	Pathogenic/Likely pathogenic	Cardiovascular phenotype Andersen Tawil syndrome Short QT syndrome type 3 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA400862672	rs_1555603994	3 SubmittersRCV000620128 RCV000644782 RCV002282268
NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser)	SNV Germline	Chr17:70175704	Likely pathogenic	Condition: not provided Andersen Tawil syndrome	Criteria Provided Single Submitter	CA400861536	rs_1555603968	2 SubmittersRCV000657962 RCV002291286
NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter)	SNV Unknown	Chr17:70176216	Pathogenic	Andersen Tawil syndrome	Criteria Provided Single Submitter	CA400863872	rs_1598211614	1 SubmittersRCV000790973
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln)	SNV Germline	Chr17:70175596	Likely pathogenic	Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA400860997	rs_104894581	1 SubmittersRCV000808465
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)	SNV Germline	Chr17:70175500	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA400860648	rs_199473380	2 SubmittersRCV001230651 RCV000845379
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly)	SNV Germline	Chr17:70175935	Likely pathogenic	Andersen Tawil syndrome Short QT syndrome type 3 Atrial fibrillation, familial, 9	Criteria Provided Single Submitter	CA400862582	rs_786205817	1 SubmittersRCV000850566
NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val)	SNV Germline	Chr17:70175820	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8738764	rs_774461588	4 SubmittersRCV000852469 RCV001322679 RCV001772152 RCV004994070
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)	SNV Germline	Chr17:70175342	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Short QT syndrome type 3 Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8738713	rs_376921497	4 SubmittersRCV000876216 RCV001127506 RCV001123386 RCV001123387 RCV001545794 RCV002444960
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys)	SNV Germline	Chr17:70175473	Pathogenic	Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Single Submitter	CA400860589	rs_2074387117	1 SubmittersRCV001064131
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)	SNV Germline	Chr17:70176204	Conflicting classifications of pathogenicity	Short QT syndrome type 3 Andersen Tawil syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA8738796	rs_140053197	3 SubmittersRCV001044601 RCV002327286 RCV003736964
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=)	SNV Germline	Chr17:70176314	Conflicting classifications of pathogenicity	Short QT syndrome type 3 Atrial fibrillation, familial, 9 Andersen Tawil syndrome Cardiovascular phenotype Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Conflicting Classifications	CA8738819	rs_555386610	3 SubmittersRCV001123503 RCV001123504 RCV001123505 RCV002375029 RCV002558221
NM_000891.3(KCNJ2):c.*35A>C	SNV Germline	Chr17:70176358	Conflicting classifications of pathogenicity	Short QT syndrome type 3 Andersen Tawil syndrome Atrial fibrillation, familial, 9	Criteria Provided Conflicting Classifications	CA8738827	rs_72552029	1 SubmittersRCV001123506 RCV001123508 RCV001123507
NM_000891.3(KCNJ2):c.*108G>A	SNV Germline	Chr17:70176431	Conflicting classifications of pathogenicity	Short QT syndrome type 3 Andersen Tawil syndrome Atrial fibrillation, familial, 9	Criteria Provided Conflicting Classifications	CA293702948	rs_188588568	1 SubmittersRCV001124592 RCV001124591 RCV001124593
NM_000891.3(KCNJ2):c.*210A>T	SNV Germline	Chr17:70176533	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA293702963	rs_146282466	1 SubmittersRCV001127694 RCV001127695 RCV001127696
NM_000891.3(KCNJ2):c.*572G>T	SNV Germline	Chr17:70176895	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Short QT syndrome type 3 Atrial fibrillation, familial, 9	Criteria Provided Conflicting Classifications	CA293702994	rs_566129544	1 SubmittersRCV001123603 RCV001124678 RCV001124679
NM_000891.3(KCNJ2):c.*1465A>G	SNV Germline	Chr17:70177788	Conflicting classifications of pathogenicity	Short QT syndrome type 3 Atrial fibrillation, familial, 9 Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA293703078	rs_183514608	1 SubmittersRCV001127960 RCV001127962 RCV001127961
NM_000891.3(KCNJ2):c.*2748T>C	SNV Germline	Chr17:70179071	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA14498843	rs_9915768	2 SubmittersRCV001126063 RCV001128150 RCV001128151 RCV001664698
NM_000891.3(KCNJ2):c.*2753T>C	SNV Germline	Chr17:70179076	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Short QT syndrome type 3 Andersen Tawil syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA627290670	rs_1391769255	2 SubmittersRCV001128152 RCV001128153 RCV001128154 RCV001638044
NM_000891.3(KCNJ2):c.*2759T>C	SNV Germline	Chr17:70179082	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Atrial fibrillation, familial, 9 Short QT syndrome type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA293703207	rs_906331617	2 SubmittersRCV001122420 RCV001122419 RCV001122421 RCV001683738
NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro)	SNV Germline	Chr17:70175617	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA400861093	rs_1555603955	2 SubmittersRCV001199329 RCV001567668
NM_000891.3(KCNJ2):c.868G>A (p.Ala290Thr)	SNV Germline	Chr17:70175907	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA400862454	rs_895505794	2 SubmittersRCV001228175 RCV005359973
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val)	SNV Germline	Chr17:70175550	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8738737	rs_150326473	3 SubmittersRCV001239073 RCV003313196 RCV002348811
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter)	SNV Germline	Chr17:70175052	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA400859487	rs_1042485	2 SubmittersRCV001374300 RCV002395857
NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr)	SNV Germline	Chr17:70175167	Conflicting classifications of pathogenicity	Short QT syndrome type 3 Andersen Tawil syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8738693	rs_774424161	2 SubmittersRCV001362741 RCV002384514
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val)	SNV Germline	Chr17:70176261	Conflicting classifications of pathogenicity	Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome Congenital long QT syndrome not specified Cardiovascular phenotype Andersen Tawil syndrome	Criteria Provided Conflicting Classifications	CA8738808	rs_753757610	6 SubmittersRCV001557509 RCV002032622 RCV003447598 RCV004998947 RCV004039316 RCV005256820
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr)	SNV Germline	Chr17:70175685	Likely pathogenic	Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA400861448	rs_104894583	1 SubmittersRCV002015482
NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter)	SNV Germline	Chr17:70175675	Pathogenic	Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA400861398	rs_2144377213	1 SubmittersRCV002021951
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His)	SNV Germline	Chr17:70175818	Likely pathogenic	Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA400862041	rs_199473385	1 SubmittersRCV001971766
NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn)	SNV Germline	Chr17:70175141	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA400859865	rs_1476737505	3 SubmittersRCV002036431 RCV003161305 RCV004591705
NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn)	SNV Germline	Chr17:70175271	Pathogenic	Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Single Submitter	CA400860152	rs_199473372	1 SubmittersRCV002894880
NM_000891.3(KCNJ2):c.598G>A (p.Val200Met)	SNV Germline	Chr17:70175637	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA400861194	rs_2509921216	2 SubmittersRCV003228861 RCV004285631
NM_000891.3(KCNJ2):c.431G>T (p.Gly144Val)	SNV Germline	Chr17:70175470	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA400860583	rs_199473377	2 SubmittersRCV003812605 RCV004801407
NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg)	SNV Germline	Chr17:70175308	Pathogenic	Andersen Tawil syndrome	Criteria Provided Single Submitter	CA400860233	rs_2509920970	1 SubmittersRCV004515764
NM_000891.3(KCNJ2):c.1044C>G (p.Tyr348Ter)	SNV Germline	Chr17:70176083	Pathogenic	Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter			1 SubmittersRCV005212477

NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)

SNV
Germline

Chr17:70175251

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA254592

rs_104894575

3 SubmittersRCV000009473 RCV000058298 RCV001851763

NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)

SNV
Germline

Chr17:70175691

Pathogenic/Likely pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome
Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA302041

rs_104894578

15 SubmittersRCV000009474 RCV000058326 RCV000170982 RCV000684775 RCV004018605 RCV005222677

NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)

SNV
Germline

Chr17:70175938

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome
Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA254594

rs_104894579

5 SubmittersRCV000009475 RCV000058332 RCV000170987 RCV002512943 RCV004629139

NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)

SNV
Germline

Chr17:70175238

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome
Condition: not provided
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA302015

rs_104894580

12 SubmittersRCV000009478 RCV000058294 RCV000170971 RCV000763415 RCV000814909 RCV001000954 RCV002415408

NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu)

SNV
Germline

Chr17:70175596

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome

No Assertion Criteria Provided

CA254596

rs_104894581

2 SubmittersRCV000058319 RCV000009479

NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)

SNV
Germline

Chr17:70175943

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome

No Assertion Criteria Provided

CA254598

rs_104894582

2 SubmittersRCV000009480 RCV000058333

NM_000891.3(KCNJ2):c.646A>C (p.Asn216His)

SNV
Germline

Chr17:70175685

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome

No Assertion Criteria Provided

CA254600

rs_104894583

2 SubmittersRCV000009481 RCV000058324

NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn)

SNV
Germline

Chr17:70175553

Pathogenic

Short QT syndrome type 3
Short QT syndrome
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA120002

rs_104894584

3 SubmittersRCV000009482 RCV000058318 RCV001384722

NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)

SNV
Germline

Chr17:70175263

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA254602

rs_104894585

3 SubmittersRCV000009483 RCV000058301 RCV001851764

NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe)

SNV
Germline

Chr17:70175200

Pathogenic

Andersen Tawil syndrome
Familial periodic paralysis

No Assertion Criteria Provided

CA145011

rs_199473650

2 SubmittersRCV000023027 RCV000058293

NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro)

SNV
Germline

Chr17:70175952

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome

No Assertion Criteria Provided

CA259745

rs_199473387

2 SubmittersRCV000023028 RCV000058335

NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)

SNV
Germline

Chr17:70175316

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Atrial fibrillation
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA128946

rs_147750704

10 SubmittersRCV000023029 RCV000148540 RCV000170978 RCV000544361 RCV001127504 RCV001127505 RCV002433466 RCV003318334

NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala)

SNV
Germline/somatic

Chr11:128911745

Pathogenic

Familial hyperaldosteronism type III
Aldosterone-producing adrenal adenoma, somatic
Andersen Tawil syndrome

No Assertion Criteria Provided

CA128954

rs_387906778

2 SubmittersRCV000023035 RCV000122747 RCV000194572

NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)

SNV
Germline

Chr17:70175239

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
not specified
Andersen Tawil syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA302017

rs_199473368

5 SubmittersRCV000058295 RCV000170972 RCV001218636 RCV000678807 RCV004017374

NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)

SNV
Germline

Chr17:70175263

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA302067

rs_104894585

4 SubmittersRCV000058302 RCV000170993 RCV000644783 RCV004629147

NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr)

SNV
Germline

Chr17:70175271

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA329651

rs_199473372

2 SubmittersRCV000058303 RCV001246254

NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly)

SNV
Germline

Chr17:70175272

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome

No Assertion Criteria Provided

CA329654

rs_199473371

2 SubmittersRCV000058304 RCV000157272

NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)

SNV
Germline

Chr17:70175283

Pathogenic

Ventricular tachycardia
Andersen Tawil syndrome
Short QT syndrome type 3
Supraventricular tachycardia
Andersen Tawil syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA145013

rs_199473373

7 SubmittersRCV000058305 RCV000535797 RCV000678808 RCV001258373 RCV001703967 RCV002453375

NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)

SNV
Germline

Chr17:70175284

Pathogenic

Congenital long QT syndrome
Cardiovascular phenotype
Andersen Tawil syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA329657

rs_199473653

7 SubmittersRCV000058306 RCV000619060 RCV000466653 RCV000791354 RCV001575542 RCV004700362

NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)

SNV
Germline

Chr17:70175469

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA329666

rs_199473378

3 SubmittersRCV000058311 RCV001382882 RCV002470749

NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)

SNV
Germline

Chr17:70175470

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 1
Atrial fibrillation, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA329669

rs_199473377

5 SubmittersRCV000058312 RCV000644780 RCV001775567 RCV001535632 RCV001824594

NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala)

SNV
Germline

Chr17:70175470

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA329672

rs_199473377

3 SubmittersRCV000058313 RCV001057585 RCV003480051

NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser)

SNV
Germline

Chr17:70175475

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA329675

rs_199473654

2 SubmittersRCV000058314 RCV003764731

NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala)

SNV
Germline

Chr17:70175613

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA329687

rs_199473382

2 SubmittersRCV000058321 RCV001258374

NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)

SNV
Germline

Chr17:70175614

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA329690

rs_199473655

2 SubmittersRCV000058322 RCV002513763

NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)

SNV
Germline

Chr17:70175683

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA329693

rs_199473383

2 SubmittersRCV000058323 RCV001388390

NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)

SNV
Germline

Chr17:70175692

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome
Short QT syndrome type 3
Atrial fibrillation, familial, 9
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA329699

rs_199473384

10 SubmittersRCV000058327 RCV000157273 RCV000255682 RCV000791452 RCV002483105 RCV002362693

NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)

SNV
Germline

Chr17:70175938

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA329702

rs_104894579

4 SubmittersRCV000058330 RCV000194837 RCV001268135 RCV003764732

NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)

SNV
Germline

Chr17:70175952

Likely pathogenic

Cardiac arrhythmia
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA145022

rs_199473387

3 SubmittersRCV001841764 RCV001068766 RCV000678809

NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile)

SNV
Germline

Chr17:70175965

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA329714

rs_199473388

2 SubmittersRCV000058338 RCV002513764

NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)

SNV
Germline

Chr17:70175973

Pathogenic/Likely pathogenic

Congenital long QT syndrome
KCNJ2-related disorder
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA329717

rs_199473389

7 SubmittersRCV000058339 RCV003390761 RCV000443262 RCV001055449 RCV002054905 RCV004992005

NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)

SNV
Germline

Chr17:70176238

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA211512

rs_144022753

6 SubmittersRCV000148542 RCV000170991 RCV000621624 RCV001850016

NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter)

SNV
Germline

Chr17:70175157

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA302012

rs_786205811

3 SubmittersRCV000170970 RCV004020038 RCV003765066

NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly)

SNV
Germline

Chr17:70175265

Conflicting classifications of pathogenicity

Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA302023

rs_786205812

2 SubmittersRCV000170974 RCV000471851

NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys)

SNV
Germline

Chr17:70175605

Likely pathogenic

Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA302035

rs_199473381

2 SubmittersRCV000170980 RCV001852049

NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu)

SNV
Germline

Chr17:70175692

Conflicting classifications of pathogenicity

Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA302043

rs_199473384

2 SubmittersRCV000170983 RCV000470921

NM_000891.3(KCNJ2):c.901A>G (p.Met301Val)

SNV
Germline

Chr17:70175940

Conflicting classifications of pathogenicity

Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA302055

rs_786205818

2 SubmittersRCV000170988 RCV000702725

NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)

SNV
Germline

Chr17:70175974

Pathogenic/Likely pathogenic

Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
Andersen Tawil syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA302070

rs_786205820

5 SubmittersRCV000170994 RCV000644779 RCV002054023

NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)

SNV
Germline

Chr17:70176012

Conflicting classifications of pathogenicity

Condition: not provided
Ventricular fibrillation
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302073

rs_202067116

5 SubmittersRCV000170995 RCV000208475 RCV000496264 RCV000816436 RCV002372065

NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys)

SNV
Germline

Chr17:70176084

Conflicting classifications of pathogenicity

Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
Short QT syndrome type 3
Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302061

rs_375330016

4 SubmittersRCV000170990 RCV000689013 RCV002505231 RCV002399608

NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)

SNV
Germline

Chr17:70176268

Conflicting classifications of pathogenicity

not specified
Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Cardiovascular phenotype
Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA302006

rs_141069645

7 SubmittersRCV000170968 RCV000289555 RCV000346966 RCV000385149 RCV000618240 RCV000755556 RCV001083244

NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu)

SNV
Germline

Chr17:70176283

Conflicting classifications of pathogenicity

Condition: not provided
Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302064

rs_373799322

6 SubmittersRCV000757418 RCV002505232 RCV001067159 RCV002390406

NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)

SNV
Germline

Chr17:70175250

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA085820

rs_199473369

2 SubmittersRCV000208360 RCV001067168

NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)

SNV
Germline

Chr17:70176298

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Andersen Tawil syndrome
Short QT syndrome
Familial atrial fibrillation
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Conflicting Classifications

CA8738815

rs_749707062

3 SubmittersRCV000248675 RCV000350551 RCV000293237 RCV000407751 RCV000864113

NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)

SNV
Germline

Chr17:70175655

Conflicting classifications of pathogenicity

not specified
Short QT syndrome type 3
Andersen Tawil syndrome
Condition: not provided
Cardiovascular phenotype
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA8738751

rs_141035459

6 SubmittersRCV000340562 RCV000644781 RCV000724926 RCV002356365 RCV002503981

NM_000891.3(KCNJ2):c.168T>C (p.Val56=)

SNV
Germline

Chr17:70175207

Conflicting classifications of pathogenicity

Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8738697

rs_370111593

4 SubmittersRCV000329826 RCV001088349 RCV002411154

NM_000891.3(KCNJ2):c.-349C>A

SNV
Germline

Chr17:70169569

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640370

rs_370696463

2 SubmittersRCV000282434 RCV000336432 RCV000392632 RCV002263022

NM_000891.3(KCNJ2):c.-314T>C

SNV
Germline

Chr17:70169604

Conflicting classifications of pathogenicity

Short QT syndrome type 3
Atrial fibrillation, familial, 9
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA10640372

rs_566186294

1 SubmittersRCV000305228 RCV000337525 RCV000392628

NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)

SNV
Germline

Chr17:70175158

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype
SUDDEN INFANT DEATH SYNDROME
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA8738692

rs_766143485

7 SubmittersRCV000308982 RCV000347359 RCV000406881 RCV000489623 RCV000795350 RCV002348069 RCV001788198 RCV002487428

NM_000891.3(KCNJ2):c.*211T>C

SNV
Germline

Chr17:70176534

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640379

rs_56194813

2 SubmittersRCV000293517 RCV000328633 RCV000385476 RCV002510863

NM_000891.3(KCNJ2):c.*3163T>A

SNV
Germline

Chr17:70179486

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640415

rs_149224363

2 SubmittersRCV000370704 RCV000313757 RCV000393822 RCV003311757

NM_000891.3(KCNJ2):c.531C>T (p.Gly177=)

SNV
Germline

Chr17:70175570

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8738740

rs_544384907

3 SubmittersRCV000277106 RCV000297116 RCV000354080 RCV000533744 RCV002348070

NM_000891.3(KCNJ2):c.*996C>T

SNV
Germline

Chr17:70177319

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Conflicting Classifications

CA10646624

rs_77958248

1 SubmittersRCV000313830 RCV000403317 RCV000371373

NM_000891.3(KCNJ2):c.*2754T>C

SNV
Germline

Chr17:70179077

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10646636

rs_9915769

2 SubmittersRCV000260451 RCV000315788 RCV000355220 RCV001653585

NM_000891.3(KCNJ2):c.-228C>T

SNV
Germline

Chr17:70169690

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 3
not specified

Criteria Provided
Conflicting Classifications

CA10649953

rs_765064661

2 SubmittersRCV000271205 RCV000330931 RCV000365619 RCV000421621

NM_000891.3(KCNJ2):c.-195C>G

SNV
Germline

Chr17:70174845

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649954

rs_544342049

2 SubmittersRCV000277293 RCV000332229 RCV000367178 RCV001672539

NM_000891.3(KCNJ2):c.*79C>T

SNV
Germline

Chr17:70176402

Conflicting classifications of pathogenicity

Short QT syndrome type 3
Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649957

rs_55970278

2 SubmittersRCV000315527 RCV000335341 RCV000406151 RCV001613047

NM_000891.3(KCNJ2):c.*732T>G

SNV
Germline

Chr17:70177055

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3

Criteria Provided
Conflicting Classifications

CA10649963

rs_150985434

1 SubmittersRCV000284063 RCV000341449 RCV000376289

NM_000891.3(KCNJ2):c.*766C>T

SNV
Germline

Chr17:70177089

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Conflicting Classifications

CA10649964

rs_186842823

1 SubmittersRCV000288334 RCV000345739 RCV000407019

NM_000891.3(KCNJ2):c.*1815G>A

SNV
Germline

Chr17:70178138

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA10649977

rs_552577704

1 SubmittersRCV000297104 RCV000370451 RCV000406942

NM_000891.3(KCNJ2):c.*2262C>T

SNV
Germline

Chr17:70178585

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649979

rs_575383136

2 SubmittersRCV000272911 RCV000382521 RCV000327997 RCV003409514

NM_000891.3(KCNJ2):c.*2893C>T

SNV
Germline

Chr17:70179216

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649993

rs_137870461

2 SubmittersRCV000302201 RCV000340552 RCV000399473 RCV003418020

NM_000891.3(KCNJ2):c.*3208A>G

SNV
Germline

Chr17:70179531

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650823

rs_188533495

2 SubmittersRCV000273825 RCV000364539 RCV000330837 RCV003422290

NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=)

SNV
Germline

Chr17:70176293

Conflicting classifications of pathogenicity

not specified
Short QT syndrome type 3
Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8738812

rs_748445140

4 SubmittersRCV000430762 RCV001451983 RCV001127604 RCV001127605 RCV001127606 RCV002411294

NM_000891.3(KCNJ2):c.867C>T (p.Asn289=)

SNV
Germline

Chr17:70175906

Conflicting classifications of pathogenicity

not specified
Short QT syndrome type 3
Andersen Tawil syndrome
Andersen Tawil syndrome
Cardiovascular phenotype
Short QT syndrome type 3
Atrial fibrillation, familial, 9

Criteria Provided
Conflicting Classifications

CA8738775

rs_201909993

4 SubmittersRCV000438204 RCV000864664 RCV001125505 RCV000622080 RCV001125504 RCV001125506

NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu)

SNV
Germline

Chr17:70175940

Conflicting classifications of pathogenicity

Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA16608631

rs_786205818

2 SubmittersRCV000435544 RCV000535723

NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)

SNV
Germline

Chr17:70175247

Conflicting classifications of pathogenicity

Short QT syndrome type 3
Andersen Tawil syndrome
Condition: not provided
Cardiovascular phenotype
Short QT syndrome type 3
Andersen Tawil syndrome
Atrial fibrillation, familial, 9
not specified

Criteria Provided
Conflicting Classifications

CA8738699

rs_375605948

6 SubmittersRCV000459178 RCV001508993 RCV002418347 RCV002488997 RCV003479121

NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter)

SNV
Germline

Chr17:70175721

Pathogenic

Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA16615988

rs_1060500053

1 SubmittersRCV001382646

NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro)

SNV
Germline

Chr17:70175692

Likely pathogenic

Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400861474

rs_199473384

2 SubmittersRCV000493695 RCV001856985

NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr)

SNV
Germline

Chr17:70175398

Conflicting classifications of pathogenicity

Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8738720

rs_375646186

4 SubmittersRCV000497313 RCV001302677 RCV002341174

NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)

SNV
Germline

Chr17:70175300

Conflicting classifications of pathogenicity

Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA501700455

rs_1166497262

3 SubmittersRCV000520511 RCV000644785 RCV003159684

NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)

SNV
Germline

Chr17:70175754

Pathogenic

Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA400861763

rs_1555603974

1 SubmittersRCV001389262

NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)

SNV
Germline

Chr17:70175884

Conflicting classifications of pathogenicity

Short QT syndrome type 3
Andersen Tawil syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Atrial fibrillation, familial, 9
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8738768

rs_758092571

5 SubmittersRCV000559682 RCV001124495 RCV001124496 RCV001125503 RCV002223868 RCV002448726

NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)

SNV
Germline

Chr17:70175958

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA400862672

rs_1555603994

3 SubmittersRCV000620128 RCV000644782 RCV002282268

NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser)

SNV
Germline

Chr17:70175704

Likely pathogenic

Condition: not provided
Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA400861536

rs_1555603968

2 SubmittersRCV000657962 RCV002291286

NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter)

SNV
Unknown

Chr17:70176216

Pathogenic

Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA400863872

rs_1598211614

1 SubmittersRCV000790973

NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln)

SNV
Germline

Chr17:70175596

Likely pathogenic

Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA400860997

rs_104894581

1 SubmittersRCV000808465

NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)

SNV
Germline

Chr17:70175500

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA400860648

rs_199473380

2 SubmittersRCV001230651 RCV000845379

NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly)

SNV
Germline

Chr17:70175935

Likely pathogenic

Andersen Tawil syndrome
Short QT syndrome type 3
Atrial fibrillation, familial, 9

Criteria Provided
Single Submitter

CA400862582

rs_786205817

1 SubmittersRCV000850566

NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val)

SNV
Germline

Chr17:70175820

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8738764

rs_774461588

4 SubmittersRCV000852469 RCV001322679 RCV001772152 RCV004994070

NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)

SNV
Germline

Chr17:70175342

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Short QT syndrome type 3
Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8738713

rs_376921497

4 SubmittersRCV000876216 RCV001127506 RCV001123386 RCV001123387 RCV001545794 RCV002444960

NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys)

SNV
Germline

Chr17:70175473

Pathogenic

Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA400860589

rs_2074387117

1 SubmittersRCV001064131

NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)

SNV
Germline

Chr17:70176204

Conflicting classifications of pathogenicity

Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8738796

rs_140053197

3 SubmittersRCV001044601 RCV002327286 RCV003736964

NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=)

SNV
Germline

Chr17:70176314

Conflicting classifications of pathogenicity

Short QT syndrome type 3
Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Cardiovascular phenotype
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Conflicting Classifications

CA8738819

rs_555386610

3 SubmittersRCV001123503 RCV001123504 RCV001123505 RCV002375029 RCV002558221

NM_000891.3(KCNJ2):c.*35A>C

SNV
Germline

Chr17:70176358

Conflicting classifications of pathogenicity

Short QT syndrome type 3
Andersen Tawil syndrome
Atrial fibrillation, familial, 9

Criteria Provided
Conflicting Classifications

CA8738827

rs_72552029

1 SubmittersRCV001123506 RCV001123508 RCV001123507

NM_000891.3(KCNJ2):c.*108G>A

SNV
Germline

Chr17:70176431

Conflicting classifications of pathogenicity

Short QT syndrome type 3
Andersen Tawil syndrome
Atrial fibrillation, familial, 9

Criteria Provided
Conflicting Classifications

CA293702948

rs_188588568

1 SubmittersRCV001124592 RCV001124591 RCV001124593

NM_000891.3(KCNJ2):c.*210A>T

SNV
Germline

Chr17:70176533

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA293702963

rs_146282466

1 SubmittersRCV001127694 RCV001127695 RCV001127696

NM_000891.3(KCNJ2):c.*572G>T

SNV
Germline

Chr17:70176895

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Short QT syndrome type 3
Atrial fibrillation, familial, 9

Criteria Provided
Conflicting Classifications

CA293702994

rs_566129544

1 SubmittersRCV001123603 RCV001124678 RCV001124679

NM_000891.3(KCNJ2):c.*1465A>G

SNV
Germline

Chr17:70177788

Conflicting classifications of pathogenicity

Short QT syndrome type 3
Atrial fibrillation, familial, 9
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA293703078

rs_183514608

1 SubmittersRCV001127960 RCV001127962 RCV001127961

NM_000891.3(KCNJ2):c.*2748T>C

SNV
Germline

Chr17:70179071

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA14498843

rs_9915768

2 SubmittersRCV001126063 RCV001128150 RCV001128151 RCV001664698

NM_000891.3(KCNJ2):c.*2753T>C

SNV
Germline

Chr17:70179076

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA627290670

rs_1391769255

2 SubmittersRCV001128152 RCV001128153 RCV001128154 RCV001638044

NM_000891.3(KCNJ2):c.*2759T>C

SNV
Germline

Chr17:70179082

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293703207

rs_906331617

2 SubmittersRCV001122420 RCV001122419 RCV001122421 RCV001683738

NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro)

SNV
Germline

Chr17:70175617

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400861093

rs_1555603955

2 SubmittersRCV001199329 RCV001567668

NM_000891.3(KCNJ2):c.868G>A (p.Ala290Thr)

SNV
Germline

Chr17:70175907

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA400862454

rs_895505794

2 SubmittersRCV001228175 RCV005359973

NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val)

SNV
Germline

Chr17:70175550

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8738737

rs_150326473

3 SubmittersRCV001239073 RCV003313196 RCV002348811

NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter)

SNV
Germline

Chr17:70175052

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA400859487

rs_1042485

2 SubmittersRCV001374300 RCV002395857

NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr)

SNV
Germline

Chr17:70175167

Conflicting classifications of pathogenicity

Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8738693

rs_774424161

2 SubmittersRCV001362741 RCV002384514

NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val)

SNV
Germline

Chr17:70176261

Conflicting classifications of pathogenicity

Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
Congenital long QT syndrome
not specified
Cardiovascular phenotype
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA8738808

rs_753757610

6 SubmittersRCV001557509 RCV002032622 RCV003447598 RCV004998947 RCV004039316 RCV005256820

NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr)

SNV
Germline

Chr17:70175685

Likely pathogenic

Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA400861448

rs_104894583