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.1032G>A (p.Ala344=)	SNV Germline	Chr11:2583545	Pathogenic	Long QT syndrome 1 Long QT syndrome Long QT syndrome 2 Condition: not provided Cardiovascular phenotype Beckwith-Wiedemann syndrome Congenital long QT syndrome	Reviewed By Expert Panel	CA005005	rs_1800171	17 SubmittersRCV000003283 RCV000045941 RCV000498423 RCV000182159 RCV000621184 RCV002247243 RCV004017223
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_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter)	SNV Germline	Chr11:2885351	Pathogenic	Beckwith-Wiedemann syndrome	No Assertion Criteria Provided	CA254534	rs_137852766	1 SubmittersRCV000009287
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter)	SNV Germline	Chr11:2884750	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA254540	rs_104894200	2 SubmittersRCV000009290
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter)	SNV Germline	Chr11:2884110	Pathogenic/Likely pathogenic	Beckwith-Wiedemann syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254543	rs_267606716	3 SubmittersRCV000009291 RCV000521869
NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter)	SNV Germline	Chr11:2884110	Pathogenic	Beckwith-Wiedemann syndrome	No Assertion Criteria Provided	CA254546	rs_267606716	1 SubmittersRCV000009292
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn)	SNV Germline	Chr11:2884670	Pathogenic	IMAGe syndrome Beckwith-Wiedemann syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA260081	rs_387907225	3 SubmittersRCV004814928 RCV001380060 RCV002513231
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.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.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.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.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.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.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.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_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)	SNV Germline	Chr5:177294944	Conflicting classifications of pathogenicity	Condition: not provided Beckwith-Wiedemann syndrome Sotos syndrome not specified Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA223709	rs_373932824	9 SubmittersRCV000082142 RCV000515435 RCV001172456 RCV002390242 RCV003231150
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu)	SNV Germline	Chr11:2885281	Pathogenic/Likely pathogenic	Condition: not provided Beckwith-Wiedemann syndrome	Criteria Provided Multiple Submitters No Conflicts	CA216367420	rs_483352970	3 SubmittersRCV001269845 RCV003502515
NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter)	SNV Germline	Chr11:2884802	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Multiple Submitters No Conflicts	CA216367211	rs_483352988	2 SubmittersRCV001218456
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter)	SNV Germline	Chr11:2884769	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Multiple Submitters No Conflicts	CA216367184	rs_483352991	2 SubmittersRCV002514595
NM_001122630.2(CDKN1C):c.698C>A (p.Ser233Ter)	SNV Germline	Chr11:2884759	Pathogenic	Beckwith-Wiedemann syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA216367178	rs_483352993	2 SubmittersRCV003502516 RCV004696850
NM_001122630.2(CDKN1C):c.*5+2T>C	SNV Unknown	Chr11:2883997	Pathogenic	Beckwith-Wiedemann syndrome	No Assertion Criteria Provided	CA274859	rs_587777866	1 SubmittersRCV000172924
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)	SNV Germline	Chr5:177283791	Pathogenic/Likely pathogenic	Beckwith-Wiedemann syndrome Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295024	rs_587784174	5 SubmittersRCV000793328 RCV000286929 RCV003231294
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)	SNV Germline	Chr11:2884119	Pathogenic	Silver-Russell syndrome 1 Beckwith-Wiedemann syndrome IMAGe syndrome	Criteria Provided Single Submitter	CA274888	rs_318240750	3 SubmittersRCV000172991 RCV002516573 RCV004816250
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)	SNV Germline	Chr11:2884878	Conflicting classifications of pathogenicity	Condition: not provided CDKN1C-related disorder Beckwith-Wiedemann syndrome	Criteria Provided Conflicting Classifications	CA238549	rs_794726872	5 SubmittersRCV000173058 RCV003975253 RCV001087134
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_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter)	SNV Germline	Chr11:2884796	Pathogenic	Beckwith-Wiedemann syndrome CDKN1C-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277051	rs_797045445	2 SubmittersRCV000192927 RCV003401049
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter)	SNV Germline	Chr5:177210749	Likely pathogenic	Sotos syndrome Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA319766	rs_374740802	1 SubmittersRCV000195430
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys)	SNV Germline	Chr19:10180389	Conflicting classifications of pathogenicity	Hereditary sensory neuropathy-deafness-dementia syndrome Beckwith-Wiedemann syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9188763	rs_138841970	6 SubmittersRCV000549690 RCV000625705 RCV000996738 RCV002321845
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=)	SNV Germline	Chr11:2885034	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Condition: not provided CDKN1C-related disorder	Criteria Provided Conflicting Classifications	CA10582907	rs_878853626	4 SubmittersRCV000225887 RCV003326378 RCV003967610
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=)	SNV Germline	Chr11:2885046	Conflicting classifications of pathogenicity	Condition: not provided Beckwith-Wiedemann syndrome	Criteria Provided Conflicting Classifications	CA10582908	rs_878853625	3 SubmittersRCV000595152 RCV001083881
NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=)	SNV Germline	Chr11:2885418	Conflicting classifications of pathogenicity	not specified Beckwith-Wiedemann syndrome	Criteria Provided Conflicting Classifications	CA5822248	rs_3852522	3 SubmittersRCV003150988 RCV000231240
NM_001122630.2(CDKN1C):c.-11+61G>A	SNV Germline	Chr11:2885573	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Condition: not provided IMAGe syndrome	Criteria Provided Conflicting Classifications	CA10582910	rs_188494894	5 SubmittersRCV000232251 RCV000514664 RCV004816437
NM_001122630.2(CDKN1C):c.-132G>A	SNV Germline	Chr11:2885755	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome IMAGe syndrome Beckwith-Wiedemann syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10582911	rs_147317732	5 SubmittersRCV000229473 RCV000763733 RCV001582760
NM_001122630.2(CDKN1C):c.-10-5C>T	SNV Germline	Chr11:2885471	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Inborn genetic diseases CDKN1C-related disorder IMAGe syndrome Beckwith-Wiedemann syndrome	Criteria Provided Conflicting Classifications	CA5822251	rs_374634184	5 SubmittersRCV000469288 RCV004975514 RCV004722759 RCV005044657
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser)	SNV Germline	Chr11:2884069	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome IMAGe syndrome Inborn genetic diseases IMAGe syndrome	Criteria Provided Conflicting Classifications	CA5822145	rs_531059713	5 SubmittersRCV000471520 RCV002506091 RCV002523285 RCV004816675
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His)	SNV Germline	Chr19:10140184	Conflicting classifications of pathogenicity	Hereditary sensory neuropathy-deafness-dementia syndrome Beckwith-Wiedemann syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9187695	rs_757460628	5 SubmittersRCV000813215 RCV000625706 RCV002225636 RCV002460080
NM_022455.5(NSD1):c.6089A>C (p.Gln2030Pro)	SNV Germline	Chr5:177283866	Likely pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA362316494	rs_1554204952	1 SubmittersRCV000543532
NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter)	SNV Germline	Chr5:177210215	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA362311511	rs_1554189131	1 SubmittersRCV000558545
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=)	SNV Germline	Chr11:2884860	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5822206	rs_767656648	4 SubmittersRCV000529614 RCV003144310
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_001122630.2(CDKN1C):c.855C>T (p.Pro285=)	SNV Germline	Chr11:2884067	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5822144	rs_779172459	2 SubmittersRCV000544653 RCV003884594
NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser)	SNV Germline	Chr11:2884721	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome IMAGe syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5822178	rs_754283907	5 SubmittersRCV000535977 RCV002481743 RCV002527659 RCV004691834
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=)	SNV Germline	Chr11:2884788	Conflicting classifications of pathogenicity	Condition: not provided Beckwith-Wiedemann syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5822187	rs_546016935	4 SubmittersRCV000728470 RCV001083671 RCV005318417
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala)	SNV Germline	Chr11:2884906	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Condition: not provided Beckwith-Wiedemann syndrome IMAGe syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA379146404	rs_1261515352	4 SubmittersRCV000539515 RCV000735112 RCV002506285 RCV004975615
NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro)	SNV Germline	Chr11:2884904	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome IMAGe syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA379146399	rs_1281835164	3 SubmittersRCV000628534 RCV002492931 RCV005532704
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala)	SNV Germline	Chr11:2885138	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Condition: not provided IMAGe syndrome Beckwith-Wiedemann syndrome CDKN1C-related disorder	Criteria Provided Conflicting Classifications	CA5822213	rs_772684721	5 SubmittersRCV000628546 RCV001771845 RCV002483764 RCV003935740
NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=)	SNV Germline	Chr11:2885412	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Condition: not provided CDKN1C-related disorder	Criteria Provided Conflicting Classifications	CA472483597	rs_1360965916	3 SubmittersRCV000628590 RCV003992352 RCV003392464
NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter)	SNV Germline	Chr5:177135310	Pathogenic	Beckwith-Wiedemann syndrome Condition: not provided	Criteria Provided Single Submitter	CA362291622	rs_1562097849	1 SubmittersRCV000697110 RCV005092022
NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter)	SNV Germline	Chr11:2884784	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379145783	rs_1564929426	1 SubmittersRCV000695961
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter)	SNV Germline	Chr11:2884817	Pathogenic	Beckwith-Wiedemann syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379145963	rs_1564929520	2 SubmittersRCV000693066 RCV005431881
NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala)	SNV Germline	Chr11:2884880	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Inborn genetic diseases Condition: not provided CDKN1C-related disorder	Criteria Provided Conflicting Classifications	CA379146324	rs_1345683292	4 SubmittersRCV000704183 RCV003165902 RCV005243344 RCV003892565
NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=)	SNV Germline	Chr11:2884992	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome IMAGe syndrome	Criteria Provided Conflicting Classifications	CA472832865	rs_1361624164	2 SubmittersRCV000694131 RCV002485671
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val)	SNV Germline	Chr11:2884738	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome IMAGe syndrome Beckwith-Wiedemann syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5822180	rs_765542916	5 SubmittersRCV000697477 RCV002485701 RCV002533489 RCV004692149
NM_001122630.2(CDKN1C):c.852T>C (p.Cys284=)	SNV Germline	Chr11:2884070	Conflicting classifications of pathogenicity	Condition: not provided Beckwith-Wiedemann syndrome	Criteria Provided Conflicting Classifications	CA379144889	rs_1564928644	2 SubmittersRCV000734685 RCV003117537
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu)	SNV Germline	Chr5:177292061	Likely pathogenic	Beckwith-Wiedemann syndrome Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362320595	rs_1562305653	2 SubmittersRCV001053071 RCV003232087
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_022455.5(NSD1):c.5410T>A (p.Tyr1804Asn)	SNV Germline	Chr5:177269708	Likely pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA362306968	rs_1581497686	1 SubmittersRCV000799306
NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=)	SNV Germline	Chr11:2885004	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome IMAGe syndrome	Criteria Provided Conflicting Classifications	CA472832915	rs_1262607893	2 SubmittersRCV000818053 RCV002487811
NM_001122630.2(CDKN1C):c.497T>C (p.Val166Ala)	SNV Germline	Chr11:2884960	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA379146519	rs_1288020047	2 SubmittersRCV000892446 RCV003243366
NM_001127598.3(IGF2):c.97C>T (p.Gln33Ter)	SNV Germline	Chr11:2140200	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Beckwith-Wiedemann syndrome Wilms tumor 1 Silver-Russell syndrome 3 Silver-Russell syndrome 1	Criteria Provided Conflicting Classifications	CA5817794	rs_200441006	4 SubmittersRCV000882263 RCV002539309 RCV005392504
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter)	SNV Germline	Chr11:2885102	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379146800	rs_1564930265	1 SubmittersRCV001054384
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro)	SNV Germline	Chr11:2885365	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379147681	rs_1848977725	1 SubmittersRCV001059990
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys)	SNV Germline	Chr11:2885357	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA379147657	rs_1848977184	3 SubmittersRCV001090131 RCV001760063
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_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter)	SNV Germline	Chr11:2885372	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379147707	rs_1564930723	1 SubmittersRCV001219770
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=)	SNV Germline	Chr11:2884037	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome IMAGe syndrome	Criteria Provided Conflicting Classifications	CA379144747	rs_1060503861	2 SubmittersRCV001203100 RCV002484092
NM_022455.5(NSD1):c.4766-1G>A	SNV Germline	Chr5:177256950	Likely pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA362354686	rs_1756517678	1 SubmittersRCV001226039
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)	SNV Germline	Chr11:2135424	Likely pathogenic	Silver-Russell syndrome 3 Silver-Russell syndrome 3 Wilms tumor 1 Beckwith-Wiedemann syndrome Silver-Russell syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA379113899	rs_1858937359	2 SubmittersRCV001253240 RCV002491857
NM_001122630.2(CDKN1C):c.325G>T (p.Glu109Ter)	SNV Germline	Chr11:2885132	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379146865	rs_1220263188	1 SubmittersRCV001383932
NM_001122630.2(CDKN1C):c.203G>A (p.Trp68Ter)	SNV Germline	Chr11:2885254	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379147291	rs_1379762772	1 SubmittersRCV001385216
NM_001122630.2(CDKN1C):c.199C>T (p.Gln67Ter)	SNV Germline	Chr11:2885258	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379147309	rs_2133785734	1 SubmittersRCV001382544
NM_001122630.2(CDKN1C):c.57C>A (p.Cys19Ter)	SNV Germline	Chr11:2885400	Pathogenic/Likely pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Multiple Submitters No Conflicts	CA379147815	rs_759365577	2 SubmittersRCV001920474
NM_001122630.2(CDKN1C):c.244G>T (p.Glu82Ter)	SNV Germline	Chr11:2885213	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379147115	rs_2133785530	1 SubmittersRCV001935054
NM_001122630.2(CDKN1C):c.204G>A (p.Trp68Ter)	SNV Germline	Chr11:2885253	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379147284	rs_2133785693	1 SubmittersRCV001903089
NM_001122630.2(CDKN1C):c.133G>T (p.Glu45Ter)	SNV Germline	Chr11:2885324	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379147543	rs_1848974871	1 SubmittersRCV001939641
NM_001122630.2(CDKN1C):c.*5+20G>T	SNV Germline	Chr11:2883979	Conflicting classifications of pathogenicity	Beckwith-Wiedemann syndrome IMAGe syndrome Beckwith-Wiedemann syndrome	Criteria Provided Conflicting Classifications	CA5822129	rs_760540648	3 SubmittersRCV002257066 RCV002481065
NM_000612.6(IGF2):c.439G>C (p.Glu147Gln)	SNV Germline	Chr11:2133091	Conflicting classifications of pathogenicity	Condition: not provided Silver-Russell syndrome 1 Wilms tumor 1 Beckwith-Wiedemann syndrome Silver-Russell syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5817613	rs_150866176	3 SubmittersRCV002591496 RCV005399124 RCV004985214
NM_001122630.2(CDKN1C):c.163C>T (p.Gln55Ter)	SNV Germline	Chr11:2885294	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379147434	rs_2494389957	1 SubmittersRCV002653279
NM_001122630.2(CDKN1C):c.100G>T (p.Glu34Ter)	SNV Germline	Chr11:2885357	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379147654	rs_1848977184	1 SubmittersRCV002867481
NM_001122630.2(CDKN1C):c.224C>A (p.Ser75Ter)	SNV Germline	Chr11:2885233	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379147195	rs_897964106	1 SubmittersRCV003030956
NM_001122630.2(CDKN1C):c.820G>T (p.Glu274Ter)	SNV Germline	Chr11:2884102	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter	CA379145029	rs_2494380076	1 SubmittersRCV003613475
NM_001122630.2(CDKN1C):c.166C>T (p.Gln56Ter)	SNV Germline	Chr11:2885291	Likely pathogenic	IMAGe syndrome Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004795552
NM_001122630.2(CDKN1C):c.68T>C (p.Phe23Ser)	SNV Germline	Chr11:2885389	Likely pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005116625
NM_001122630.2(CDKN1C):c.799A>T (p.Lys267Ter)	SNV Germline	Chr11:2884123	Pathogenic	Beckwith-Wiedemann syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005140303

NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)

SNV
Germline

Chr11:2583545

Pathogenic

Long QT syndrome 1
Long QT syndrome
Long QT syndrome 2
Condition: not provided
Cardiovascular phenotype
Beckwith-Wiedemann syndrome
Congenital long QT syndrome

Reviewed By Expert Panel

CA005005

rs_1800171

17 SubmittersRCV000003283 RCV000045941 RCV000498423 RCV000182159 RCV000621184 RCV002247243 RCV004017223

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_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter)

SNV
Germline

Chr11:2885351

Pathogenic

Beckwith-Wiedemann syndrome

No Assertion Criteria Provided

CA254534

rs_137852766

1 SubmittersRCV000009287

NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter)

SNV
Germline

Chr11:2884750

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA254540

rs_104894200

2 SubmittersRCV000009290

NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter)

SNV
Germline

Chr11:2884110

Pathogenic/Likely pathogenic

Beckwith-Wiedemann syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254543

rs_267606716

3 SubmittersRCV000009291 RCV000521869

NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter)

SNV
Germline

Chr11:2884110

Pathogenic

Beckwith-Wiedemann syndrome

No Assertion Criteria Provided

CA254546

rs_267606716

1 SubmittersRCV000009292

NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn)

SNV
Germline

Chr11:2884670

Pathogenic

IMAGe syndrome
Beckwith-Wiedemann syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA260081

rs_387907225

3 SubmittersRCV004814928 RCV001380060 RCV002513231

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.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.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.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.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.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.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.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_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)

SNV
Germline

Chr5:177294944

Conflicting classifications of pathogenicity

Condition: not provided
Beckwith-Wiedemann syndrome
Sotos syndrome
not specified
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA223709

rs_373932824

9 SubmittersRCV000082142 RCV000515435 RCV001172456 RCV002390242 RCV003231150

NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu)

SNV
Germline

Chr11:2885281

Pathogenic/Likely pathogenic

Condition: not provided
Beckwith-Wiedemann syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA216367420

rs_483352970

3 SubmittersRCV001269845 RCV003502515

NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter)

SNV
Germline

Chr11:2884802

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA216367211

rs_483352988

2 SubmittersRCV001218456

NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter)

SNV
Germline

Chr11:2884769

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA216367184

rs_483352991

2 SubmittersRCV002514595

NM_001122630.2(CDKN1C):c.698C>A (p.Ser233Ter)

SNV
Germline

Chr11:2884759

Pathogenic

Beckwith-Wiedemann syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA216367178

rs_483352993

2 SubmittersRCV003502516 RCV004696850

NM_001122630.2(CDKN1C):c.*5+2T>C

SNV
Unknown

Chr11:2883997

Pathogenic

Beckwith-Wiedemann syndrome

No Assertion Criteria Provided

CA274859

rs_587777866

1 SubmittersRCV000172924

NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)

SNV
Germline

Chr5:177283791

Pathogenic/Likely pathogenic

Beckwith-Wiedemann syndrome
Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295024

rs_587784174

5 SubmittersRCV000793328 RCV000286929 RCV003231294

NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)

SNV
Germline

Chr11:2884119

Pathogenic

Silver-Russell syndrome 1
Beckwith-Wiedemann syndrome
IMAGe syndrome

Criteria Provided
Single Submitter

CA274888

rs_318240750

3 SubmittersRCV000172991 RCV002516573 RCV004816250

NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)

SNV
Germline

Chr11:2884878

Conflicting classifications of pathogenicity

Condition: not provided
CDKN1C-related disorder
Beckwith-Wiedemann syndrome

Criteria Provided
Conflicting Classifications

CA238549

rs_794726872

5 SubmittersRCV000173058 RCV003975253 RCV001087134

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_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter)

SNV
Germline

Chr11:2884796

Pathogenic

Beckwith-Wiedemann syndrome
CDKN1C-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277051

rs_797045445

2 SubmittersRCV000192927 RCV003401049

NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter)

SNV
Germline

Chr5:177210749

Likely pathogenic

Sotos syndrome
Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA319766

rs_374740802

1 SubmittersRCV000195430

NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys)

SNV
Germline

Chr19:10180389

Conflicting classifications of pathogenicity

Hereditary sensory neuropathy-deafness-dementia syndrome
Beckwith-Wiedemann syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9188763

rs_138841970

6 SubmittersRCV000549690 RCV000625705 RCV000996738 RCV002321845

NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=)

SNV
Germline

Chr11:2885034

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Condition: not provided
CDKN1C-related disorder

Criteria Provided
Conflicting Classifications

CA10582907

rs_878853626

4 SubmittersRCV000225887 RCV003326378 RCV003967610

NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=)

SNV
Germline

Chr11:2885046

Conflicting classifications of pathogenicity

Condition: not provided
Beckwith-Wiedemann syndrome

Criteria Provided
Conflicting Classifications

CA10582908

rs_878853625

3 SubmittersRCV000595152 RCV001083881

NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=)

SNV
Germline

Chr11:2885418

Conflicting classifications of pathogenicity

not specified
Beckwith-Wiedemann syndrome

Criteria Provided
Conflicting Classifications

CA5822248

rs_3852522

3 SubmittersRCV003150988 RCV000231240

NM_001122630.2(CDKN1C):c.-11+61G>A

SNV
Germline

Chr11:2885573

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Condition: not provided
IMAGe syndrome

Criteria Provided
Conflicting Classifications

CA10582910

rs_188494894

5 SubmittersRCV000232251 RCV000514664 RCV004816437

NM_001122630.2(CDKN1C):c.-132G>A

SNV
Germline

Chr11:2885755

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
IMAGe syndrome
Beckwith-Wiedemann syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582911

rs_147317732

5 SubmittersRCV000229473 RCV000763733 RCV001582760

NM_001122630.2(CDKN1C):c.-10-5C>T

SNV
Germline

Chr11:2885471

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Inborn genetic diseases
CDKN1C-related disorder
IMAGe syndrome
Beckwith-Wiedemann syndrome

Criteria Provided
Conflicting Classifications

CA5822251

rs_374634184

5 SubmittersRCV000469288 RCV004975514 RCV004722759 RCV005044657

NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser)

SNV
Germline

Chr11:2884069

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome
IMAGe syndrome
Inborn genetic diseases
IMAGe syndrome

Criteria Provided
Conflicting Classifications

CA5822145

rs_531059713

5 SubmittersRCV000471520 RCV002506091 RCV002523285 RCV004816675

NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His)

SNV
Germline

Chr19:10140184

Conflicting classifications of pathogenicity

Hereditary sensory neuropathy-deafness-dementia syndrome
Beckwith-Wiedemann syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9187695

rs_757460628

5 SubmittersRCV000813215 RCV000625706 RCV002225636 RCV002460080

NM_022455.5(NSD1):c.6089A>C (p.Gln2030Pro)

SNV
Germline

Chr5:177283866

Likely pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA362316494

rs_1554204952

1 SubmittersRCV000543532

NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter)

SNV
Germline

Chr5:177210215

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA362311511

rs_1554189131

1 SubmittersRCV000558545

NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=)

SNV
Germline

Chr11:2884860

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5822206

rs_767656648

4 SubmittersRCV000529614 RCV003144310

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_001122630.2(CDKN1C):c.855C>T (p.Pro285=)

SNV
Germline

Chr11:2884067

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5822144

rs_779172459

2 SubmittersRCV000544653 RCV003884594

NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser)

SNV
Germline

Chr11:2884721

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome
IMAGe syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5822178

rs_754283907

5 SubmittersRCV000535977 RCV002481743 RCV002527659 RCV004691834

NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=)

SNV
Germline

Chr11:2884788

Conflicting classifications of pathogenicity

Condition: not provided
Beckwith-Wiedemann syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5822187

rs_546016935

4 SubmittersRCV000728470 RCV001083671 RCV005318417

NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala)

SNV
Germline

Chr11:2884906

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Condition: not provided
Beckwith-Wiedemann syndrome
IMAGe syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379146404

rs_1261515352

4 SubmittersRCV000539515 RCV000735112 RCV002506285 RCV004975615

NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro)

SNV
Germline

Chr11:2884904

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome
IMAGe syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379146399

rs_1281835164

3 SubmittersRCV000628534 RCV002492931 RCV005532704

NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala)

SNV
Germline

Chr11:2885138

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Condition: not provided
IMAGe syndrome
Beckwith-Wiedemann syndrome
CDKN1C-related disorder

Criteria Provided
Conflicting Classifications

CA5822213

rs_772684721

5 SubmittersRCV000628546 RCV001771845 RCV002483764 RCV003935740

NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=)

SNV
Germline

Chr11:2885412

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Condition: not provided
CDKN1C-related disorder

Criteria Provided
Conflicting Classifications

CA472483597

rs_1360965916

3 SubmittersRCV000628590 RCV003992352 RCV003392464

NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter)

SNV
Germline

Chr5:177135310

Pathogenic

Beckwith-Wiedemann syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA362291622

rs_1562097849

1 SubmittersRCV000697110 RCV005092022

NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter)

SNV
Germline

Chr11:2884784

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379145783

rs_1564929426

1 SubmittersRCV000695961

NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter)

SNV
Germline

Chr11:2884817

Pathogenic

Beckwith-Wiedemann syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379145963

rs_1564929520

2 SubmittersRCV000693066 RCV005431881

NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala)

SNV
Germline

Chr11:2884880

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Inborn genetic diseases
Condition: not provided
CDKN1C-related disorder

Criteria Provided
Conflicting Classifications

CA379146324

rs_1345683292

4 SubmittersRCV000704183 RCV003165902 RCV005243344 RCV003892565

NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=)

SNV
Germline

Chr11:2884992

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome
IMAGe syndrome

Criteria Provided
Conflicting Classifications

CA472832865

rs_1361624164

2 SubmittersRCV000694131 RCV002485671

NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val)

SNV
Germline

Chr11:2884738

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
IMAGe syndrome
Beckwith-Wiedemann syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5822180

rs_765542916

5 SubmittersRCV000697477 RCV002485701 RCV002533489 RCV004692149

NM_001122630.2(CDKN1C):c.852T>C (p.Cys284=)

SNV
Germline

Chr11:2884070

Conflicting classifications of pathogenicity

Condition: not provided
Beckwith-Wiedemann syndrome

Criteria Provided
Conflicting Classifications

CA379144889

rs_1564928644

2 SubmittersRCV000734685 RCV003117537

NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu)

SNV
Germline

Chr5:177292061

Likely pathogenic

Beckwith-Wiedemann syndrome
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362320595

rs_1562305653

2 SubmittersRCV001053071 RCV003232087

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_022455.5(NSD1):c.5410T>A (p.Tyr1804Asn)

SNV
Germline

Chr5:177269708

Likely pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA362306968

rs_1581497686

1 SubmittersRCV000799306

NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=)

SNV
Germline

Chr11:2885004

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome
IMAGe syndrome

Criteria Provided
Conflicting Classifications

CA472832915

rs_1262607893

2 SubmittersRCV000818053 RCV002487811

NM_001122630.2(CDKN1C):c.497T>C (p.Val166Ala)

SNV
Germline

Chr11:2884960

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379146519

rs_1288020047

2 SubmittersRCV000892446 RCV003243366

NM_001127598.3(IGF2):c.97C>T (p.Gln33Ter)

SNV
Germline

Chr11:2140200

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Beckwith-Wiedemann syndrome
Wilms tumor 1
Silver-Russell syndrome 3
Silver-Russell syndrome 1

Criteria Provided
Conflicting Classifications

CA5817794

rs_200441006

4 SubmittersRCV000882263 RCV002539309 RCV005392504

NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter)

SNV
Germline

Chr11:2885102

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379146800

rs_1564930265

1 SubmittersRCV001054384

NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro)

SNV
Germline

Chr11:2885365

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379147681

rs_1848977725

1 SubmittersRCV001059990

NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys)

SNV
Germline

Chr11:2885357

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379147657

rs_1848977184

3 SubmittersRCV001090131 RCV001760063

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_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter)

SNV
Germline

Chr11:2885372

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379147707

rs_1564930723

1 SubmittersRCV001219770

NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=)

SNV
Germline

Chr11:2884037

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome
IMAGe syndrome

Criteria Provided
Conflicting Classifications

CA379144747

rs_1060503861

2 SubmittersRCV001203100 RCV002484092

NM_022455.5(NSD1):c.4766-1G>A

SNV
Germline

Chr5:177256950

Likely pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA362354686

rs_1756517678

1 SubmittersRCV001226039

NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)

SNV
Germline

Chr11:2135424

Likely pathogenic

Silver-Russell syndrome 3
Silver-Russell syndrome 3
Wilms tumor 1
Beckwith-Wiedemann syndrome
Silver-Russell syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379113899

rs_1858937359

2 SubmittersRCV001253240 RCV002491857

NM_001122630.2(CDKN1C):c.325G>T (p.Glu109Ter)

SNV
Germline

Chr11:2885132

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379146865

rs_1220263188

1 SubmittersRCV001383932

NM_001122630.2(CDKN1C):c.203G>A (p.Trp68Ter)

SNV
Germline

Chr11:2885254

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379147291

rs_1379762772

1 SubmittersRCV001385216

NM_001122630.2(CDKN1C):c.199C>T (p.Gln67Ter)

SNV
Germline

Chr11:2885258

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379147309

rs_2133785734

1 SubmittersRCV001382544

NM_001122630.2(CDKN1C):c.57C>A (p.Cys19Ter)

SNV
Germline

Chr11:2885400

Pathogenic/Likely pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379147815

rs_759365577

2 SubmittersRCV001920474

NM_001122630.2(CDKN1C):c.244G>T (p.Glu82Ter)

SNV
Germline

Chr11:2885213

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379147115

rs_2133785530

1 SubmittersRCV001935054

NM_001122630.2(CDKN1C):c.204G>A (p.Trp68Ter)

SNV
Germline

Chr11:2885253

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379147284

rs_2133785693

1 SubmittersRCV001903089

NM_001122630.2(CDKN1C):c.133G>T (p.Glu45Ter)

SNV
Germline

Chr11:2885324

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379147543

rs_1848974871

1 SubmittersRCV001939641

NM_001122630.2(CDKN1C):c.*5+20G>T

SNV
Germline

Chr11:2883979

Conflicting classifications of pathogenicity

Beckwith-Wiedemann syndrome
IMAGe syndrome
Beckwith-Wiedemann syndrome

Criteria Provided
Conflicting Classifications

CA5822129

rs_760540648

3 SubmittersRCV002257066 RCV002481065

NM_000612.6(IGF2):c.439G>C (p.Glu147Gln)

SNV
Germline

Chr11:2133091

Conflicting classifications of pathogenicity

Condition: not provided
Silver-Russell syndrome 1
Wilms tumor 1
Beckwith-Wiedemann syndrome
Silver-Russell syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5817613

rs_150866176

3 SubmittersRCV002591496 RCV005399124 RCV004985214

NM_001122630.2(CDKN1C):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr11:2885294

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379147434

rs_2494389957

1 SubmittersRCV002653279

NM_001122630.2(CDKN1C):c.100G>T (p.Glu34Ter)

SNV
Germline

Chr11:2885357

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379147654

rs_1848977184

1 SubmittersRCV002867481

NM_001122630.2(CDKN1C):c.224C>A (p.Ser75Ter)

SNV
Germline

Chr11:2885233

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379147195

rs_897964106

1 SubmittersRCV003030956

NM_001122630.2(CDKN1C):c.820G>T (p.Glu274Ter)

SNV
Germline

Chr11:2884102

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

CA379145029

rs_2494380076

1 SubmittersRCV003613475

NM_001122630.2(CDKN1C):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr11:2885291

Likely pathogenic

IMAGe syndrome
Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004795552

NM_001122630.2(CDKN1C):c.68T>C (p.Phe23Ser)

SNV
Germline

Chr11:2885389

Likely pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005116625

NM_001122630.2(CDKN1C):c.799A>T (p.Lys267Ter)

SNV
Germline

Chr11:2884123

Pathogenic

Beckwith-Wiedemann syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005140303