Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter)	SNV Germline	Chr11:118503036	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA130070	rs_387907275	3 SubmittersRCV000030724
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter)	SNV Germline	Chr11:118468800	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA172386	rs_587783678	1 SubmittersRCV000146140
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter)	SNV Germline	Chr11:118503723	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA172397	rs_587783679	1 SubmittersRCV000146144
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)	SNV Germline	Chr11:118503987	Pathogenic	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA172400	rs_587783680	6 SubmittersRCV000146145 RCV001269710
NM_006306.4(SMC1A):c.2974-2A>G	SNV Germline	ChrX:53383255	Pathogenic	Congenital muscular hypertrophy-cerebral syndrome Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA333595	rs_727503774	1 SubmittersRCV000157050
NM_006306.4(SMC1A):c.121C>T (p.Leu41Phe)	SNV Germline	ChrX:53415158	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA333597	rs_727503776	1 SubmittersRCV000157052
NM_001197104.2(KMT2A):c.5494C>A (p.Pro1832Thr)	SNV Germline	Chr11:118495830	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA250368	rs_797045051	1 SubmittersRCV000191101
NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter)	SNV Germline	Chr11:118511963	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA208829	rs_782477344	1 SubmittersRCV000194582
NM_001197104.2(KMT2A):c.4086+1G>A	SNV Germline	Chr11:118482496	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA278983	rs_863224889	1 SubmittersRCV000198164
NM_001197104.2(KMT2A):c.4342T>C (p.Cys1448Arg)	SNV Germline	Chr11:118488623	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA279005	rs_863224895	1 SubmittersRCV000199053
NM_001197104.2(KMT2A):c.3565T>C (p.Cys1189Arg)	SNV Germline	Chr11:118478197	Pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603134	rs_886041875	2 SubmittersRCV000354494 RCV001328711
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter)	SNV Germline	Chr11:118494360	Pathogenic	Condition: not provided Inborn genetic diseases Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603139	rs_886041896	5 SubmittersRCV000277593 RCV000624173 RCV003456046
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)	SNV Germline	Chr11:118476949	Pathogenic/Likely pathogenic	Condition: not provided intellectual deficiency Wiedemann-Steiner syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10603235	rs_886041856	7 SubmittersRCV000392937 RCV000415284 RCV001254088 RCV001267617
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)	SNV Germline	Chr11:118478096	Pathogenic/Likely pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16042769	rs_1057518074	3 SubmittersRCV000414422 RCV000824854
NM_001197104.2(KMT2A):c.6080G>A (p.Gly2027Glu)	SNV Germline	Chr11:118499835	Likely pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA16044387	rs_1057519403	1 SubmittersRCV000417110
NM_001197104.2(KMT2A):c.4696+1G>A	SNV Germline	Chr11:118490250	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA16044391	rs_1057519407	2 SubmittersRCV000417093
NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr)	SNV Germline	Chr11:118488624	Pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382831726	rs_1085307857	2 SubmittersRCV000489772 RCV001376037
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln)	SNV Germline	Chr11:118478093	Pathogenic	Condition: not provided not specified Inborn genetic diseases Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382824780	rs_1131691799	5 SubmittersRCV000493579 RCV000504302 RCV000623546 RCV002248724
NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg)	SNV Germline	Chr11:118488648	Likely pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382831912	rs_1131691433	2 SubmittersRCV000493938 RCV000988751
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)	SNV Germline	Chr11:118474178	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA229522191	rs_940325244	2 SubmittersRCV000578132 RCV000988747
NM_001197104.2(KMT2A):c.3334+1G>A	SNV Germline	Chr11:118476983	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382824210	rs_1135401764	1 SubmittersRCV000496312
NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter)	SNV Germline	Chr11:118476838	Pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382823648	rs_1555037629	5 SubmittersRCV000498571 RCV002250645
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp)	SNV Germline	Chr11:118478092	Pathogenic/Likely pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382824774	rs_1555038090	7 SubmittersRCV000498743 RCV001007914
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr)	SNV Germline	Chr11:118478105	Pathogenic/Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382824835	rs_1131691503	2 SubmittersRCV000501260
NM_001197104.2(KMT2A):c.6158+6T>C	SNV Germline	Chr11:118499919	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA645372520	rs_1555045177	1 SubmittersRCV000502079
NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro)	SNV Germline	Chr11:118504435	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382814608	rs_1555047266	1 SubmittersRCV000501129
NM_001197104.2(KMT2A):c.11071+1G>A	SNV Unknown	Chr11:118510119	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382830224	rs_1555049702	1 SubmittersRCV000515671
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter)	SNV Germline	Chr11:118501839	Pathogenic	Condition: not provided Inborn genetic diseases Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382802007	rs_1555045816	4 SubmittersRCV000521526 RCV001267255 RCV003532154
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter)	SNV Germline	Chr11:118503330	Pathogenic	Condition: not provided Wiedemann-Steiner syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA382805583	rs_1555046568	6 SubmittersRCV000520124 RCV000626313 RCV004639263
NM_001197104.2(KMT2A):c.3341C>A (p.Ser1114Ter)	SNV Germline	Chr11:118477973	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382824295	rs_1555038029	1 SubmittersRCV000578173
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter)	SNV Germline	Chr11:118468820	Pathogenic/Likely pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382803689	rs_1555034779	7 SubmittersRCV000599486 RCV001261357
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter)	SNV Germline	Chr11:118478083	Pathogenic	Inborn genetic diseases Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382824734	rs_868985556	5 SubmittersRCV000624019 RCV001389749 RCV001836647
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter)	SNV Germline	Chr11:118481870	Pathogenic	Inborn genetic diseases Condition: not provided Intellectual disability Hirsutism Rare genetic intellectual disability Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382827927	rs_1555039343	9 SubmittersRCV000622624 RCV000760554 RCV001261359 RCV001256980 RCV003987627
NM_001197104.2(KMT2A):c.2896A>T (p.Arg966Ter)	SNV Germline	Chr11:118474055	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382818624	rs_1555036801	1 SubmittersRCV000625799
NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter)	SNV Germline	Chr11:118478153	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382825054	rs_1555038111	1 SubmittersRCV000625973
NM_001197104.2(KMT2A):c.3566G>A (p.Cys1189Tyr)	SNV Germline	Chr11:118478198	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA382825264	rs_1555038125	1 SubmittersRCV000626314
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter)	SNV Germline/somatic	Chr11:118502463	Pathogenic/Likely pathogenic	Condition: not provided See cases Wiedemann-Steiner syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA382802250	rs_200497972	6 SubmittersRCV000627376 RCV002252182 RCV005410911 RCV006273945
NM_001197104.2(KMT2A):c.11110C>T (p.Arg3704Ter)	SNV Germline	Chr11:118511989	Pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382830524	rs_1555050211	2 SubmittersRCV000627271 RCV001270411
NM_001197104.2(KMT2A):c.517C>T (p.Arg173Ter)	SNV Germline	Chr11:118471676	Pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382806480	rs_1555035511	3 SubmittersRCV000760622 RCV002274098
NM_001197104.2(KMT2A):c.3034C>T (p.Gln1012Ter)	SNV Germline	Chr11:118474193	Pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382819563	rs_1565280934	2 SubmittersRCV000760944 RCV003985094
NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter)	SNV Germline	Chr11:118491830	Pathogenic/Likely pathogenic	Wiedemann-Steiner syndrome Condition: not provided Inborn genetic diseases Squamous cell carcinoma of the head and neck	Criteria Provided Multiple Submitters No Conflicts	CA382834827	rs_1591266263	5 SubmittersRCV000824819 RCV002223959 RCV004986644 RCV005902110
NM_001197104.2(KMT2A):c.4012+2T>A	SNV Germline	Chr11:118482094	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382828723	rs_1591385183	1 SubmittersRCV000850567
NM_001197104.2(KMT2A):c.502+1G>A	SNV Germline	Chr11:118468845	Pathogenic	Wiedemann-Steiner syndrome Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA382803778	rs_1591371152	2 SubmittersRCV000988746 RCV001526651
NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter)	SNV Unknown	Chr11:118478087	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382824753	rs_1591381084	1 SubmittersRCV000988748
NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter)	SNV Germline	Chr11:118480196	Pathogenic	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382826345	rs_1591383060	3 SubmittersRCV000988749 RCV004818097
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter)	SNV Germline	Chr11:118495767	Pathogenic/Likely pathogenic	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382838632	rs_1555043796	5 SubmittersRCV000988753 RCV001541942
NM_001197104.2(KMT2A):c.11785A>C (p.Ile3929Leu)	SNV Unknown	Chr11:118522038	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382836331	rs_1591312430	1 SubmittersRCV000988757
NM_001197104.2(KMT2A):c.572C>A (p.Ser191Ter)	SNV Unknown	Chr11:118471731	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382806809	rs_1591373553	1 SubmittersRCV001007873
NM_001197104.2(KMT2A):c.1822C>T (p.Arg608Ter)	SNV Germline	Chr11:118472981	Pathogenic/Likely pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382811154	rs_1949970237	2 SubmittersRCV001063493 RCV005633862
NM_001197104.2(KMT2A):c.4246G>T (p.Glu1416Ter)	SNV Germline	Chr11:118484889	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA382830741	rs_1555040446	1 SubmittersRCV001252544
NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter)	SNV Germline	Chr11:118505731	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA382821939	rs_1950569353	1 SubmittersRCV001252545
NM_001197104.2(KMT2A):c.3581G>A (p.Cys1194Tyr)	SNV Germline	Chr11:118480185	Conflicting classifications of pathogenicity	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA382826277	rs_1950106455	2 SubmittersRCV001253369 RCV005253770
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter)	SNV Germline	Chr11:118503867	Pathogenic	Intellectual disability Inborn genetic diseases Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382808069	rs_1950540436	5 SubmittersRCV001257641 RCV004035376 RCV002250739 RCV005054355
NM_017780.4(CHD7):c.5243T>G (p.Leu1748Arg)	SNV Germline	Chr8:60848547	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA371320827	rs_1586437186	1 SubmittersRCV001261224
NM_001197104.2(KMT2A):c.5828G>A (p.Gly1943Glu)	SNV Unknown	Chr11:118498395	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382798525	rs_1950444447	1 SubmittersRCV001262256
NM_001197104.2(KMT2A):c.5887C>T (p.Arg1963Ter)	SNV Germline	Chr11:118498454	Pathogenic	Condition: not provided Inborn genetic diseases Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382798837	rs_1950445312	3 SubmittersRCV001268657 RCV005590003 RCV006249735
NM_001197104.2(KMT2A):c.1660C>T (p.Gln554Ter)	SNV Germline	Chr11:118472819	Pathogenic/Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382810598	rs_1949967549	2 SubmittersRCV001333867
NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg)	SNV Germline	Chr11:118490249	Likely pathogenic	Neurodevelopmental disorder Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382834221	rs_2134335014	3 SubmittersRCV001374926 RCV003148986 RCV004770128
NM_001197104.2(KMT2A):c.5935C>T (p.Arg1979Ter)	SNV Germline	Chr11:118498502	Pathogenic	See cases Wiedemann-Steiner syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA382798964	rs_2134367981	5 SubmittersRCV001420263 RCV005253846 RCV005369877
NM_001197104.2(KMT2A):c.10657G>A (p.Gly3553Arg)	SNV Germline	Chr11:118506549	Conflicting classifications of pathogenicity	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA6304783	rs_782293850	3 SubmittersRCV001434703 RCV005395019
NM_001197104.2(KMT2A):c.2483C>G (p.Ser828Ter)	SNV Germline	Chr11:118473642	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA382815614	rs_2134269273	1 SubmittersRCV001788542
NM_001197104.2(KMT2A):c.2426C>T (p.Ser809Phe)	SNV Germline	Chr11:118473585	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA229521926	rs_374005016	4 SubmittersRCV001541465 RCV002568253 RCV005635175
NM_001197104.2(KMT2A):c.2690C>G (p.Ser897Ter)	SNV Germline	Chr11:118473849	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA382817094	rs_2134271140	1 SubmittersRCV001542476
NM_001197104.2(KMT2A):c.4333-2A>G	SNV Germline	Chr11:118488612	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382831625	rs_2134327570	1 SubmittersRCV001591701
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter)	SNV Germline	Chr11:118501797	Pathogenic/Likely pathogenic	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382801870	rs_781843315	3 SubmittersRCV001619760 RCV003159212
NM_001197104.2(KMT2A):c.5572C>T (p.Arg1858Ter)	SNV Germline	Chr11:118496275	Pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382796809	rs_2134357027	3 SubmittersRCV001665395 RCV003152768
NM_001197104.2(KMT2A):c.10835+1G>C	SNV Germline	Chr11:118507610	Conflicting classifications of pathogenicity	Condition: not provided not specified Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA6304833	rs_141515578	4 SubmittersRCV001756461 RCV001821976 RCV005635193
NM_001197104.2(KMT2A):c.2198A>G (p.Asn733Ser)	SNV Germline	Chr11:118473357	Conflicting classifications of pathogenicity	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA382813483	rs_1555036397	4 SubmittersRCV001752065 RCV003234098
NM_001197104.2(KMT2A):c.731T>G (p.Leu244Ter)	SNV Unknown	Chr11:118471890	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382807630	rs_2134258206	1 SubmittersRCV001775354
NM_001197104.2(KMT2A):c.3634+1G>A	SNV Germline	Chr11:118480239	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382826592	rs_2134293919	1 SubmittersRCV001775371
NM_001197104.2(KMT2A):c.3853C>T (p.Gln1285Ter)	SNV Unknown	Chr11:118481933	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382828143	rs_2134300616	1 SubmittersRCV001775398
NM_001197104.2(KMT2A):c.3241C>T (p.Arg1081Ter)	SNV Germline	Chr11:118476889	Pathogenic	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382823850	rs_2134282528	5 SubmittersRCV001795568 RCV002272499
NM_001197104.2(KMT2A):c.5958C>T (p.Gly1986=)	SNV Germline	Chr11:118498525	Conflicting classifications of pathogenicity	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA477092217	rs_1555044758	3 SubmittersRCV001797332 RCV002489842
NM_001197104.2(KMT2A):c.11006A>G (p.Lys3669Arg)	SNV Germline	Chr11:118510053	Conflicting classifications of pathogenicity	Wiedemann-Steiner syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6304883	rs_144844866	3 SubmittersRCV001809029 RCV001869591 RCV006362556
NM_001197104.2(KMT2A):c.5455C>T (p.Gln1819Ter)	SNV Germline	Chr11:118495791	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382838810	rs_2134355176	1 SubmittersRCV001814827
NM_001197104.2(KMT2A):c.2797C>T (p.Arg933Trp)	SNV Germline	Chr11:118473956	Conflicting classifications of pathogenicity	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6303560	rs_782407414	2 SubmittersRCV001839397 RCV002077326
NM_001197104.2(KMT2A):c.5675G>A (p.Arg1892His)	SNV Germline	Chr11:118497946	Conflicting classifications of pathogenicity	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA382797494	rs_1950436398	2 SubmittersRCV004587283 RCV002019405
NM_001197104.2(KMT2A):c.6374C>T (p.Pro2125Leu)	SNV Germline	Chr11:118501726	Conflicting classifications of pathogenicity	Condition: not provided Wiedemann-Steiner syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6304238	rs_782226750	3 SubmittersRCV001965871 RCV003134301 RCV005590243
NM_001197104.2(KMT2A):c.4933A>G (p.Ile1645Val)	SNV Germline	Chr11:118491857	Conflicting classifications of pathogenicity	Condition: not provided Wiedemann-Steiner syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6303973	rs_377485215	3 SubmittersRCV002126602 RCV003487023 RCV006372679
NM_001197104.2(KMT2A):c.6650G>A (p.Arg2217Lys)	SNV Germline	Chr11:118502542	Conflicting classifications of pathogenicity	Condition: not provided Wiedemann-Steiner syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6304290	rs_782483583	3 SubmittersRCV002132375 RCV002254770 RCV005350909
NM_001197104.2(KMT2A):c.1837C>T (p.Arg613Ter)	SNV Germline	Chr11:118472996	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA382811211	rs_2134264638	1 SubmittersRCV002222324
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter)	SNV Germline	Chr11:118484267	Pathogenic/Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382830240	rs_2134311608	2 SubmittersRCV002226874
NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp)	SNV Germline	Chr11:118478179	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382825168	rs_2134287568	1 SubmittersRCV002249088
NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter)	SNV Germline	Chr11:118503806	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382807788	rs_1385902057	1 SubmittersRCV002250078
NM_001197104.2(KMT2A):c.11514-2A>C	SNV Germline	Chr11:118521286	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382835382	rs_2135292977	1 SubmittersRCV002251255
NM_001197104.2(KMT2A):c.5363+1G>A	SNV Germline	Chr11:118494768	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA382838086	rs_2134351311	1 SubmittersRCV002260580
NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp)	SNV Germline	Chr11:118504658	Conflicting classifications of pathogenicity	not specified Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA382816025	rs_2134400611	2 SubmittersRCV002271742 RCV004720358
NM_001197104.2(KMT2A):c.6320-1G>A	SNV Germline	Chr11:118501671	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382801403	rs_1950502854	1 SubmittersRCV002288363
NM_001197104.2(KMT2A):c.4760A>G (p.Gln1587Arg)	SNV Germline	Chr11:118491259	Likely pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA382834398	rs_2496918604	1 SubmittersRCV002291121
NM_001197104.2(KMT2A):c.3615C>A (p.Tyr1205Ter)	SNV Germline	Chr11:118480219	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382826474	rs_782263597	1 SubmittersRCV002465382
NM_001197104.2(KMT2A):c.4301G>T (p.Cys1434Phe)	SNV Germline	Chr11:118484944	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382830961	rs_1131691287	1 SubmittersRCV002471771
NM_001197104.2(KMT2A):c.2608A>T (p.Lys870Ter)	SNV Germline	Chr11:118473767	Pathogenic/Likely pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382816443	rs_2496813149	2 SubmittersRCV002885399 RCV003152806
NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter)	SNV Germline	Chr11:118488703	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382832515	rs_2134328020	1 SubmittersRCV002810035
NM_001197104.2(KMT2A):c.3569+2T>G	SNV Germline	Chr11:118478203	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382825294	rs_2496842510	1 SubmittersRCV003128067
NM_001197104.2(KMT2A):c.6773G>A (p.Ser2258Asn)	SNV Germline	Chr11:118502665	Conflicting classifications of pathogenicity	Wiedemann-Steiner syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA382802967	rs_1555046152	3 SubmittersRCV003131380 RCV005592652 RCV003324870
NM_001197104.2(KMT2A):c.6079+2T>C	SNV Germline	Chr11:118499422	Likely pathogenic	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382799585	rs_2496969762	2 SubmittersRCV003146836 RCV003565621
NM_001197104.2(KMT2A):c.11123G>C (p.Arg3708Pro)	SNV Germline	Chr11:118512002	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382830607	rs_907814598	1 SubmittersRCV003223473
NM_001197104.2(KMT2A):c.6379C>T (p.Arg2127Ter)	SNV Germline	Chr11:118501731	Pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382801625	rs_782373978	3 SubmittersRCV003234327 RCV004796789
NM_001197104.2(KMT2A):c.3337A>T (p.Lys1113Ter)	SNV Germline	Chr11:118477969	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382824277	rs_2496840469	1 SubmittersRCV003318322
NM_001197104.2(KMT2A):c.3463T>C (p.Cys1155Arg)	SNV Germline	Chr11:118478095	Likely pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided	CA382824785	rs_2134287017	1 SubmittersRCV003336653
NM_001197104.2(KMT2A):c.3537T>G (p.Phe1179Leu)	SNV Germline	Chr11:118478169	Conflicting classifications of pathogenicity	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA382825132	rs_2496842179	2 SubmittersRCV003389287 RCV003689076
NM_001197104.2(KMT2A):c.8992A>T (p.Ile2998Phe)	SNV Germline	Chr11:118504884	Conflicting classifications of pathogenicity	Wiedemann-Steiner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA382817582	rs_1555047466	2 SubmittersRCV003447727 RCV006616917
NM_001197104.2(KMT2A):c.4013-2A>G	SNV Germline	Chr11:118482420	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382828769	rs_2496868859	1 SubmittersRCV003456323
NM_001197104.2(KMT2A):c.3542G>A (p.Gly1181Asp)	SNV Germline	Chr11:118478174	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382825155	rs_2496842241	1 SubmittersRCV003484455
NM_001197104.2(KMT2A):c.2683A>T (p.Lys895Ter)	SNV Germline	Chr11:118473842	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382817017	rs_2496814214	1 SubmittersRCV003487108
NM_001197104.2(KMT2A):c.2584C>T (p.Arg862Ter)	SNV Germline	Chr11:118473743	Pathogenic/Likely pathogenic	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382816313	rs_2496812832	2 SubmittersRCV003568144 RCV005254840
NM_001197104.2(KMT2A):c.8455T>C (p.Ser2819Pro)	SNV Germline	Chr11:118504347	Conflicting classifications of pathogenicity	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA382813860	rs_1443122959	2 SubmittersRCV003709057 RCV004720399
NM_001197104.2(KMT2A):c.10745C>A (p.Ser3582Ter)	SNV Germline	Chr11:118506637	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382827175	rs_2497033999	1 SubmittersRCV003649156
NM_001197104.2(KMT2A):c.4678G>A (p.Ala1560Thr)	SNV Germline	Chr11:118490231	Conflicting classifications of pathogenicity	Condition: not provided KMT2A-related disorder Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA382834179	rs_1388016179	3 SubmittersRCV003831944 RCV004741731 RCV004787064
NM_001197104.2(KMT2A):c.10714A>G (p.Ile3572Val)	SNV Germline	Chr11:118506606	Conflicting classifications of pathogenicity	Condition: not provided Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA382826925	rs_2497033680	2 SubmittersRCV003869287 RCV004720404
NM_001197104.2(KMT2A):c.6616C>T (p.Gln2206Ter)	SNV Unknown	Chr11:118502508	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter	CA382802419	rs_2496989171	1 SubmittersRCV003985180
NM_001197104.2(KMT2A):c.3467G>T (p.Gly1156Val)	SNV Germline	Chr11:118478099	Likely pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided			1 SubmittersRCV005637876
NM_001197104.2(KMT2A):c.3516T>A (p.Asn1172Lys)	SNV Germline	Chr11:118478148	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided			1 SubmittersRCV004759348
NM_001197104.2(KMT2A):c.5558-2A>G	SNV Germline	Chr11:118496259	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter		rs_2496947421	1 SubmittersRCV004556943
NM_001197104.2(KMT2A):c.10870C>T (p.Gln3624Ter)	SNV Germline	Chr11:118509170	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter		rs_1950640800	1 SubmittersRCV004594986
NM_001197104.2(KMT2A):c.7907C>T (p.Pro2636Leu)	SNV Germline	Chr11:118503799	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter		rs_2134395213	1 SubmittersRCV004594987
NM_001197104.2(KMT2A):c.901C>T (p.Arg301Ter)	SNV Germline	Chr11:118472060	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter		rs_2134259032	1 SubmittersRCV004595196
NM_001197104.2(KMT2A):c.4575G>A (p.Trp1525Ter)	SNV Germline	Chr11:118489887	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter		rs_2496910348	1 SubmittersRCV004595197
NM_001197104.2(KMT2A):c.3335-1G>C	SNV Germline	Chr11:118477966	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004781999
NM_001197104.2(KMT2A):c.2431G>T (p.Glu811Ter)	SNV Germline	Chr11:118473590	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004789798
NM_001197104.2(KMT2A):c.2632C>T (p.Arg878Trp)	SNV Germline	Chr11:118473791	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004795269
NM_001197104.2(KMT2A):c.8995C>T (p.Gln2999Ter)	SNV Germline	Chr11:118504887	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004795596
NM_001197104.2(KMT2A):c.8233A>T (p.Lys2745Ter)	SNV Germline	Chr11:118504125	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004796434
NM_001197104.2(KMT2A):c.5239C>T (p.Gln1747Ter)	SNV Germline	Chr11:118494348	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004799169
NM_001197104.2(KMT2A):c.6611C>G (p.Ser2204Ter)	SNV Germline	Chr11:118502503	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004813024
NM_001197104.2(KMT2A):c.3424C>T (p.Gln1142Ter)	SNV Germline	Chr11:118478056	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005052342
NM_001197104.2(KMT2A):c.5807G>A (p.Cys1936Tyr)	SNV Germline	Chr11:118498374	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005229658
NM_001197104.2(KMT2A):c.11321+1G>A	SNV Germline	Chr11:118519793	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005252623
NM_001197104.2(KMT2A):c.3596G>A (p.Trp1199Ter)	SNV Germline	Chr11:118480200	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005411096
NM_001197104.2(KMT2A):c.3615C>G (p.Tyr1205Ter)	SNV Unknown	Chr11:118480219	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005411186
NM_001197104.2(KMT2A):c.1893C>A (p.Tyr631Ter)	SNV Germline	Chr11:118473052	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005604125
NM_001197104.2(KMT2A):c.3157-1G>C	SNV Germline	Chr11:118476804	Pathogenic	Wiedemann-Steiner syndrome	No Assertion Criteria Provided			1 SubmittersRCV005637977
NM_001197104.2(KMT2A):c.1150C>T (p.Gln384Ter)	SNV Germline	Chr11:118472309	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005859813
NM_001197104.2(KMT2A):c.6080-1G>C	SNV Germline	Chr11:118499834	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005865017
NM_001197104.2(KMT2A):c.11491A>T (p.Lys3831Ter)	SNV Germline	Chr11:118520863	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005880654
NM_001197104.2(KMT2A):c.7936G>T (p.Glu2646Ter)	SNV Germline	Chr11:118503828	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005884622
NM_001197104.2(KMT2A):c.430G>T (p.Glu144Ter)	SNV Germline	Chr11:118436942	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005880777
NM_001197104.2(KMT2A):c.3597G>A (p.Trp1199Ter)	SNV Germline	Chr11:118480201	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006252392
NM_001197104.2(KMT2A):c.3517T>A (p.Cys1173Ser)	SNV Germline	Chr11:118478149	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006249428
NM_001197104.2(KMT2A):c.4819+2T>G	SNV Unknown	Chr11:118491320	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006255076
NM_001197104.2(KMT2A):c.1579A>T (p.Arg527Ter)	SNV Germline	Chr11:118472738	Pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006257949
NM_001197104.2(KMT2A):c.6175T>G (p.Trp2059Gly)	SNV Germline	Chr11:118501003	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006257984
NM_001197104.2(KMT2A):c.3461G>T (p.Arg1154Leu)	SNV Germline	Chr11:118478093	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006259759
NM_001197104.2(KMT2A):c.11884T>C (p.Cys3962Arg)	SNV Germline	Chr11:118522137	Likely pathogenic	Wiedemann-Steiner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006597541

NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter)

SNV
Germline

Chr11:118503036

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA130070

rs_387907275

3 SubmittersRCV000030724

NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter)

SNV
Germline

Chr11:118468800

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA172386

rs_587783678

1 SubmittersRCV000146140

NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter)

SNV
Germline

Chr11:118503723

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA172397

rs_587783679

1 SubmittersRCV000146144

NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)

SNV
Germline

Chr11:118503987

Pathogenic

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA172400

rs_587783680

6 SubmittersRCV000146145 RCV001269710

NM_006306.4(SMC1A):c.2974-2A>G

SNV
Germline

ChrX:53383255

Pathogenic

Congenital muscular hypertrophy-cerebral syndrome
Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA333595

rs_727503774

1 SubmittersRCV000157050

NM_006306.4(SMC1A):c.121C>T (p.Leu41Phe)

SNV
Germline

ChrX:53415158

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA333597

rs_727503776

1 SubmittersRCV000157052

NM_001197104.2(KMT2A):c.5494C>A (p.Pro1832Thr)

SNV
Germline

Chr11:118495830

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA250368

rs_797045051

1 SubmittersRCV000191101

NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter)

SNV
Germline

Chr11:118511963

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA208829

rs_782477344

1 SubmittersRCV000194582

NM_001197104.2(KMT2A):c.4086+1G>A

SNV
Germline

Chr11:118482496

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA278983

rs_863224889

1 SubmittersRCV000198164

NM_001197104.2(KMT2A):c.4342T>C (p.Cys1448Arg)

SNV
Germline

Chr11:118488623

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA279005

rs_863224895

1 SubmittersRCV000199053

NM_001197104.2(KMT2A):c.3565T>C (p.Cys1189Arg)

SNV
Germline

Chr11:118478197

Pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603134

rs_886041875

2 SubmittersRCV000354494 RCV001328711

NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter)

SNV
Germline

Chr11:118494360

Pathogenic

Condition: not provided
Inborn genetic diseases
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603139

rs_886041896

5 SubmittersRCV000277593 RCV000624173 RCV003456046

NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)

SNV
Germline

Chr11:118476949

Pathogenic/Likely pathogenic

Condition: not provided
intellectual deficiency
Wiedemann-Steiner syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10603235

rs_886041856

7 SubmittersRCV000392937 RCV000415284 RCV001254088 RCV001267617

NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)

SNV
Germline

Chr11:118478096

Pathogenic/Likely pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042769

rs_1057518074

3 SubmittersRCV000414422 RCV000824854

NM_001197104.2(KMT2A):c.6080G>A (p.Gly2027Glu)

SNV
Germline

Chr11:118499835

Likely pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA16044387

rs_1057519403

1 SubmittersRCV000417110

NM_001197104.2(KMT2A):c.4696+1G>A

SNV
Germline

Chr11:118490250

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA16044391

rs_1057519407

2 SubmittersRCV000417093

NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr)

SNV
Germline

Chr11:118488624

Pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382831726

rs_1085307857

2 SubmittersRCV000489772 RCV001376037

NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln)

SNV
Germline

Chr11:118478093

Pathogenic

Condition: not provided
not specified
Inborn genetic diseases
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382824780

rs_1131691799

5 SubmittersRCV000493579 RCV000504302 RCV000623546 RCV002248724

NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg)

SNV
Germline

Chr11:118488648

Likely pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382831912

rs_1131691433

2 SubmittersRCV000493938 RCV000988751

NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)

SNV
Germline

Chr11:118474178

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA229522191

rs_940325244

2 SubmittersRCV000578132 RCV000988747

NM_001197104.2(KMT2A):c.3334+1G>A

SNV
Germline

Chr11:118476983

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382824210

rs_1135401764

1 SubmittersRCV000496312

NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter)

SNV
Germline

Chr11:118476838

Pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382823648

rs_1555037629

5 SubmittersRCV000498571 RCV002250645

NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp)

SNV
Germline

Chr11:118478092

Pathogenic/Likely pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382824774

rs_1555038090

7 SubmittersRCV000498743 RCV001007914

NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr)

SNV
Germline

Chr11:118478105

Pathogenic/Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382824835

rs_1131691503

2 SubmittersRCV000501260

NM_001197104.2(KMT2A):c.6158+6T>C

SNV
Germline

Chr11:118499919

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA645372520

rs_1555045177

1 SubmittersRCV000502079

NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro)

SNV
Germline

Chr11:118504435

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382814608

rs_1555047266

1 SubmittersRCV000501129

NM_001197104.2(KMT2A):c.11071+1G>A

SNV
Unknown

Chr11:118510119

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382830224

rs_1555049702

1 SubmittersRCV000515671

NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter)

SNV
Germline

Chr11:118501839

Pathogenic

Condition: not provided
Inborn genetic diseases
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382802007

rs_1555045816

4 SubmittersRCV000521526 RCV001267255 RCV003532154

NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter)

SNV
Germline

Chr11:118503330

Pathogenic

Condition: not provided
Wiedemann-Steiner syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA382805583

rs_1555046568

6 SubmittersRCV000520124 RCV000626313 RCV004639263

NM_001197104.2(KMT2A):c.3341C>A (p.Ser1114Ter)

SNV
Germline

Chr11:118477973

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382824295

rs_1555038029

1 SubmittersRCV000578173

NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter)

SNV
Germline

Chr11:118468820

Pathogenic/Likely pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382803689

rs_1555034779

7 SubmittersRCV000599486 RCV001261357

NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter)

SNV
Germline

Chr11:118478083

Pathogenic

Inborn genetic diseases
Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382824734

rs_868985556

5 SubmittersRCV000624019 RCV001389749 RCV001836647

NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter)

SNV
Germline

Chr11:118481870

Pathogenic

Inborn genetic diseases
Condition: not provided
Intellectual disability
Hirsutism
Rare genetic intellectual disability
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382827927

rs_1555039343

9 SubmittersRCV000622624 RCV000760554 RCV001261359 RCV001256980 RCV003987627

NM_001197104.2(KMT2A):c.2896A>T (p.Arg966Ter)

SNV
Germline

Chr11:118474055

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382818624

rs_1555036801

1 SubmittersRCV000625799

NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter)

SNV
Germline

Chr11:118478153

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382825054

rs_1555038111

1 SubmittersRCV000625973

NM_001197104.2(KMT2A):c.3566G>A (p.Cys1189Tyr)

SNV
Germline

Chr11:118478198

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA382825264

rs_1555038125

1 SubmittersRCV000626314

NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter)

SNV
Germline/somatic

Chr11:118502463

Pathogenic/Likely pathogenic

Condition: not provided
See cases
Wiedemann-Steiner syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA382802250

rs_200497972

6 SubmittersRCV000627376 RCV002252182 RCV005410911 RCV006273945

NM_001197104.2(KMT2A):c.11110C>T (p.Arg3704Ter)

SNV
Germline

Chr11:118511989

Pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382830524

rs_1555050211

2 SubmittersRCV000627271 RCV001270411

NM_001197104.2(KMT2A):c.517C>T (p.Arg173Ter)

SNV
Germline

Chr11:118471676

Pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382806480

rs_1555035511

3 SubmittersRCV000760622 RCV002274098

NM_001197104.2(KMT2A):c.3034C>T (p.Gln1012Ter)

SNV
Germline

Chr11:118474193

Pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382819563

rs_1565280934

2 SubmittersRCV000760944 RCV003985094

NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter)

SNV
Germline

Chr11:118491830

Pathogenic/Likely pathogenic

Wiedemann-Steiner syndrome
Condition: not provided
Inborn genetic diseases
Squamous cell carcinoma of the head and neck

Criteria Provided
Multiple Submitters
No Conflicts

CA382834827

rs_1591266263

5 SubmittersRCV000824819 RCV002223959 RCV004986644 RCV005902110

NM_001197104.2(KMT2A):c.4012+2T>A

SNV
Germline

Chr11:118482094

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382828723

rs_1591385183

1 SubmittersRCV000850567

NM_001197104.2(KMT2A):c.502+1G>A

SNV
Germline

Chr11:118468845

Pathogenic

Wiedemann-Steiner syndrome
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA382803778

rs_1591371152

2 SubmittersRCV000988746 RCV001526651

NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter)

SNV
Unknown

Chr11:118478087

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382824753

rs_1591381084

1 SubmittersRCV000988748

NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter)

SNV
Germline

Chr11:118480196

Pathogenic

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382826345

rs_1591383060

3 SubmittersRCV000988749 RCV004818097

NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter)

SNV
Germline

Chr11:118495767

Pathogenic/Likely pathogenic

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382838632

rs_1555043796

5 SubmittersRCV000988753 RCV001541942

NM_001197104.2(KMT2A):c.11785A>C (p.Ile3929Leu)

SNV
Unknown

Chr11:118522038

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382836331

rs_1591312430

1 SubmittersRCV000988757

NM_001197104.2(KMT2A):c.572C>A (p.Ser191Ter)

SNV
Unknown

Chr11:118471731

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382806809

rs_1591373553

1 SubmittersRCV001007873

NM_001197104.2(KMT2A):c.1822C>T (p.Arg608Ter)

SNV
Germline

Chr11:118472981

Pathogenic/Likely pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382811154

rs_1949970237

2 SubmittersRCV001063493 RCV005633862

NM_001197104.2(KMT2A):c.4246G>T (p.Glu1416Ter)

SNV
Germline

Chr11:118484889

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA382830741

rs_1555040446

1 SubmittersRCV001252544

NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter)

SNV
Germline

Chr11:118505731

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA382821939

rs_1950569353

1 SubmittersRCV001252545

NM_001197104.2(KMT2A):c.3581G>A (p.Cys1194Tyr)

SNV
Germline

Chr11:118480185

Conflicting classifications of pathogenicity

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382826277

rs_1950106455

2 SubmittersRCV001253369 RCV005253770

NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter)

SNV
Germline

Chr11:118503867

Pathogenic

Intellectual disability
Inborn genetic diseases
Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382808069

rs_1950540436

5 SubmittersRCV001257641 RCV004035376 RCV002250739 RCV005054355

NM_017780.4(CHD7):c.5243T>G (p.Leu1748Arg)

SNV
Germline

Chr8:60848547

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA371320827

rs_1586437186

1 SubmittersRCV001261224

NM_001197104.2(KMT2A):c.5828G>A (p.Gly1943Glu)

SNV
Unknown

Chr11:118498395

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382798525

rs_1950444447

1 SubmittersRCV001262256

NM_001197104.2(KMT2A):c.5887C>T (p.Arg1963Ter)

SNV
Germline

Chr11:118498454

Pathogenic

Condition: not provided
Inborn genetic diseases
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382798837

rs_1950445312

3 SubmittersRCV001268657 RCV005590003 RCV006249735

NM_001197104.2(KMT2A):c.1660C>T (p.Gln554Ter)

SNV
Germline

Chr11:118472819

Pathogenic/Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382810598

rs_1949967549

2 SubmittersRCV001333867

NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg)

SNV
Germline

Chr11:118490249

Likely pathogenic

Neurodevelopmental disorder
Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382834221

rs_2134335014

3 SubmittersRCV001374926 RCV003148986 RCV004770128

NM_001197104.2(KMT2A):c.5935C>T (p.Arg1979Ter)

SNV
Germline

Chr11:118498502

Pathogenic

See cases
Wiedemann-Steiner syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA382798964

rs_2134367981

5 SubmittersRCV001420263 RCV005253846 RCV005369877

NM_001197104.2(KMT2A):c.10657G>A (p.Gly3553Arg)

SNV
Germline

Chr11:118506549

Conflicting classifications of pathogenicity

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA6304783

rs_782293850

3 SubmittersRCV001434703 RCV005395019

NM_001197104.2(KMT2A):c.2483C>G (p.Ser828Ter)

SNV
Germline

Chr11:118473642

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA382815614

rs_2134269273

1 SubmittersRCV001788542

NM_001197104.2(KMT2A):c.2426C>T (p.Ser809Phe)

SNV
Germline

Chr11:118473585

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA229521926

rs_374005016

4 SubmittersRCV001541465 RCV002568253 RCV005635175

NM_001197104.2(KMT2A):c.2690C>G (p.Ser897Ter)

SNV
Germline

Chr11:118473849

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA382817094

rs_2134271140

1 SubmittersRCV001542476

NM_001197104.2(KMT2A):c.4333-2A>G

SNV
Germline

Chr11:118488612

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382831625

rs_2134327570

1 SubmittersRCV001591701

NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter)

SNV
Germline

Chr11:118501797

Pathogenic/Likely pathogenic

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382801870

rs_781843315

3 SubmittersRCV001619760 RCV003159212

NM_001197104.2(KMT2A):c.5572C>T (p.Arg1858Ter)

SNV
Germline

Chr11:118496275

Pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382796809

rs_2134357027

3 SubmittersRCV001665395 RCV003152768

NM_001197104.2(KMT2A):c.10835+1G>C

SNV
Germline

Chr11:118507610

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA6304833

rs_141515578

4 SubmittersRCV001756461 RCV001821976 RCV005635193

NM_001197104.2(KMT2A):c.2198A>G (p.Asn733Ser)

SNV
Germline

Chr11:118473357

Conflicting classifications of pathogenicity

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA382813483

rs_1555036397

4 SubmittersRCV001752065 RCV003234098

NM_001197104.2(KMT2A):c.731T>G (p.Leu244Ter)

SNV
Unknown

Chr11:118471890

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382807630

rs_2134258206

1 SubmittersRCV001775354

NM_001197104.2(KMT2A):c.3634+1G>A

SNV
Germline

Chr11:118480239

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382826592

rs_2134293919

1 SubmittersRCV001775371

NM_001197104.2(KMT2A):c.3853C>T (p.Gln1285Ter)

SNV
Unknown

Chr11:118481933

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382828143

rs_2134300616

1 SubmittersRCV001775398

NM_001197104.2(KMT2A):c.3241C>T (p.Arg1081Ter)

SNV
Germline

Chr11:118476889

Pathogenic

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382823850

rs_2134282528

5 SubmittersRCV001795568 RCV002272499

NM_001197104.2(KMT2A):c.5958C>T (p.Gly1986=)

SNV
Germline

Chr11:118498525

Conflicting classifications of pathogenicity

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA477092217

rs_1555044758

3 SubmittersRCV001797332 RCV002489842

NM_001197104.2(KMT2A):c.11006A>G (p.Lys3669Arg)

SNV
Germline

Chr11:118510053

Conflicting classifications of pathogenicity

Wiedemann-Steiner syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6304883

rs_144844866

3 SubmittersRCV001809029 RCV001869591 RCV006362556

NM_001197104.2(KMT2A):c.5455C>T (p.Gln1819Ter)

SNV
Germline

Chr11:118495791

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382838810

rs_2134355176

1 SubmittersRCV001814827

NM_001197104.2(KMT2A):c.2797C>T (p.Arg933Trp)

SNV
Germline

Chr11:118473956

Conflicting classifications of pathogenicity

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6303560

rs_782407414

2 SubmittersRCV001839397 RCV002077326

NM_001197104.2(KMT2A):c.5675G>A (p.Arg1892His)

SNV
Germline

Chr11:118497946

Conflicting classifications of pathogenicity

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382797494

rs_1950436398

2 SubmittersRCV004587283 RCV002019405

NM_001197104.2(KMT2A):c.6374C>T (p.Pro2125Leu)

SNV
Germline

Chr11:118501726

Conflicting classifications of pathogenicity

Condition: not provided
Wiedemann-Steiner syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6304238

rs_782226750

3 SubmittersRCV001965871 RCV003134301 RCV005590243

NM_001197104.2(KMT2A):c.4933A>G (p.Ile1645Val)

SNV
Germline

Chr11:118491857

Conflicting classifications of pathogenicity

Condition: not provided
Wiedemann-Steiner syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6303973

rs_377485215

3 SubmittersRCV002126602 RCV003487023 RCV006372679

NM_001197104.2(KMT2A):c.6650G>A (p.Arg2217Lys)

SNV
Germline

Chr11:118502542

Conflicting classifications of pathogenicity

Condition: not provided
Wiedemann-Steiner syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6304290

rs_782483583

3 SubmittersRCV002132375 RCV002254770 RCV005350909

NM_001197104.2(KMT2A):c.1837C>T (p.Arg613Ter)

SNV
Germline

Chr11:118472996

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA382811211

rs_2134264638

1 SubmittersRCV002222324

NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter)

SNV
Germline

Chr11:118484267

Pathogenic/Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382830240

rs_2134311608

2 SubmittersRCV002226874

NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp)

SNV
Germline

Chr11:118478179

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382825168

rs_2134287568

1 SubmittersRCV002249088

NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter)

SNV
Germline

Chr11:118503806

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382807788

rs_1385902057

1 SubmittersRCV002250078

NM_001197104.2(KMT2A):c.11514-2A>C

SNV
Germline

Chr11:118521286

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382835382

rs_2135292977

1 SubmittersRCV002251255

NM_001197104.2(KMT2A):c.5363+1G>A

SNV
Germline

Chr11:118494768

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA382838086

rs_2134351311

1 SubmittersRCV002260580

NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp)

SNV
Germline

Chr11:118504658

Conflicting classifications of pathogenicity

not specified
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA382816025

rs_2134400611

2 SubmittersRCV002271742 RCV004720358

NM_001197104.2(KMT2A):c.6320-1G>A

SNV
Germline

Chr11:118501671

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382801403

rs_1950502854

1 SubmittersRCV002288363

NM_001197104.2(KMT2A):c.4760A>G (p.Gln1587Arg)

SNV
Germline

Chr11:118491259

Likely pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA382834398

rs_2496918604

1 SubmittersRCV002291121

NM_001197104.2(KMT2A):c.3615C>A (p.Tyr1205Ter)

SNV
Germline

Chr11:118480219

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382826474

rs_782263597

1 SubmittersRCV002465382

NM_001197104.2(KMT2A):c.4301G>T (p.Cys1434Phe)

SNV
Germline

Chr11:118484944

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382830961

rs_1131691287

1 SubmittersRCV002471771

NM_001197104.2(KMT2A):c.2608A>T (p.Lys870Ter)

SNV
Germline

Chr11:118473767

Pathogenic/Likely pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382816443

rs_2496813149

2 SubmittersRCV002885399 RCV003152806

NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter)

SNV
Germline

Chr11:118488703

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382832515

rs_2134328020

1 SubmittersRCV002810035

NM_001197104.2(KMT2A):c.3569+2T>G

SNV
Germline

Chr11:118478203

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382825294

rs_2496842510

1 SubmittersRCV003128067

NM_001197104.2(KMT2A):c.6773G>A (p.Ser2258Asn)

SNV
Germline

Chr11:118502665

Conflicting classifications of pathogenicity

Wiedemann-Steiner syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382802967

rs_1555046152

3 SubmittersRCV003131380 RCV005592652 RCV003324870

NM_001197104.2(KMT2A):c.6079+2T>C

SNV
Germline

Chr11:118499422

Likely pathogenic

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382799585

rs_2496969762

2 SubmittersRCV003146836 RCV003565621

NM_001197104.2(KMT2A):c.11123G>C (p.Arg3708Pro)

SNV
Germline

Chr11:118512002

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382830607

rs_907814598

1 SubmittersRCV003223473

NM_001197104.2(KMT2A):c.6379C>T (p.Arg2127Ter)

SNV
Germline

Chr11:118501731

Pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382801625

rs_782373978

3 SubmittersRCV003234327 RCV004796789

NM_001197104.2(KMT2A):c.3337A>T (p.Lys1113Ter)

SNV
Germline

Chr11:118477969

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382824277

rs_2496840469

1 SubmittersRCV003318322

NM_001197104.2(KMT2A):c.3463T>C (p.Cys1155Arg)

SNV
Germline

Chr11:118478095

Likely pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

CA382824785

rs_2134287017

1 SubmittersRCV003336653

NM_001197104.2(KMT2A):c.3537T>G (p.Phe1179Leu)

SNV
Germline

Chr11:118478169

Conflicting classifications of pathogenicity

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382825132

rs_2496842179

2 SubmittersRCV003389287 RCV003689076

NM_001197104.2(KMT2A):c.8992A>T (p.Ile2998Phe)

SNV
Germline

Chr11:118504884

Conflicting classifications of pathogenicity

Wiedemann-Steiner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382817582

rs_1555047466

2 SubmittersRCV003447727 RCV006616917

NM_001197104.2(KMT2A):c.4013-2A>G

SNV
Germline

Chr11:118482420

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382828769

rs_2496868859

1 SubmittersRCV003456323

NM_001197104.2(KMT2A):c.3542G>A (p.Gly1181Asp)

SNV
Germline

Chr11:118478174

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382825155

rs_2496842241

1 SubmittersRCV003484455

NM_001197104.2(KMT2A):c.2683A>T (p.Lys895Ter)

SNV
Germline

Chr11:118473842

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382817017

rs_2496814214

1 SubmittersRCV003487108

NM_001197104.2(KMT2A):c.2584C>T (p.Arg862Ter)

SNV
Germline

Chr11:118473743

Pathogenic/Likely pathogenic

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382816313

rs_2496812832

2 SubmittersRCV003568144 RCV005254840

NM_001197104.2(KMT2A):c.8455T>C (p.Ser2819Pro)

SNV
Germline

Chr11:118504347

Conflicting classifications of pathogenicity

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA382813860

rs_1443122959

2 SubmittersRCV003709057 RCV004720399

NM_001197104.2(KMT2A):c.10745C>A (p.Ser3582Ter)

SNV
Germline

Chr11:118506637

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382827175

rs_2497033999

1 SubmittersRCV003649156

NM_001197104.2(KMT2A):c.4678G>A (p.Ala1560Thr)

SNV
Germline

Chr11:118490231

Conflicting classifications of pathogenicity

Condition: not provided
KMT2A-related disorder
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA382834179

rs_1388016179

3 SubmittersRCV003831944 RCV004741731 RCV004787064

NM_001197104.2(KMT2A):c.10714A>G (p.Ile3572Val)

SNV
Germline

Chr11:118506606

Conflicting classifications of pathogenicity

Condition: not provided
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA382826925

rs_2497033680

2 SubmittersRCV003869287 RCV004720404

NM_001197104.2(KMT2A):c.6616C>T (p.Gln2206Ter)

SNV
Unknown

Chr11:118502508

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

CA382802419

rs_2496989171

1 SubmittersRCV003985180

NM_001197104.2(KMT2A):c.3467G>T (p.Gly1156Val)

SNV
Germline

Chr11:118478099

Likely pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

1 SubmittersRCV005637876

NM_001197104.2(KMT2A):c.3516T>A (p.Asn1172Lys)

SNV
Germline

Chr11:118478148

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

1 SubmittersRCV004759348

NM_001197104.2(KMT2A):c.5558-2A>G

SNV
Germline

Chr11:118496259

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

rs_2496947421

1 SubmittersRCV004556943

NM_001197104.2(KMT2A):c.10870C>T (p.Gln3624Ter)

SNV
Germline

Chr11:118509170

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

rs_1950640800

1 SubmittersRCV004594986

NM_001197104.2(KMT2A):c.7907C>T (p.Pro2636Leu)

SNV
Germline

Chr11:118503799

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

rs_2134395213

1 SubmittersRCV004594987

NM_001197104.2(KMT2A):c.901C>T (p.Arg301Ter)

SNV
Germline

Chr11:118472060

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

rs_2134259032

1 SubmittersRCV004595196

NM_001197104.2(KMT2A):c.4575G>A (p.Trp1525Ter)

SNV
Germline

Chr11:118489887

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

rs_2496910348

1 SubmittersRCV004595197

NM_001197104.2(KMT2A):c.3335-1G>C

SNV
Germline

Chr11:118477966

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004781999

NM_001197104.2(KMT2A):c.2431G>T (p.Glu811Ter)

SNV
Germline

Chr11:118473590

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004789798

NM_001197104.2(KMT2A):c.2632C>T (p.Arg878Trp)

SNV
Germline

Chr11:118473791

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004795269

NM_001197104.2(KMT2A):c.8995C>T (p.Gln2999Ter)

SNV
Germline

Chr11:118504887

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004795596

NM_001197104.2(KMT2A):c.8233A>T (p.Lys2745Ter)

SNV
Germline

Chr11:118504125

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004796434

NM_001197104.2(KMT2A):c.5239C>T (p.Gln1747Ter)

SNV
Germline

Chr11:118494348

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004799169

NM_001197104.2(KMT2A):c.6611C>G (p.Ser2204Ter)

SNV
Germline

Chr11:118502503

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004813024

NM_001197104.2(KMT2A):c.3424C>T (p.Gln1142Ter)

SNV
Germline

Chr11:118478056

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005052342

NM_001197104.2(KMT2A):c.5807G>A (p.Cys1936Tyr)

SNV
Germline

Chr11:118498374

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005229658

NM_001197104.2(KMT2A):c.11321+1G>A

SNV
Germline

Chr11:118519793

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005252623

NM_001197104.2(KMT2A):c.3596G>A (p.Trp1199Ter)

SNV
Germline

Chr11:118480200

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005411096

NM_001197104.2(KMT2A):c.3615C>G (p.Tyr1205Ter)

SNV
Unknown

Chr11:118480219

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005411186

NM_001197104.2(KMT2A):c.1893C>A (p.Tyr631Ter)

SNV
Germline

Chr11:118473052

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005604125

NM_001197104.2(KMT2A):c.3157-1G>C

SNV
Germline

Chr11:118476804

Pathogenic

Wiedemann-Steiner syndrome

No Assertion Criteria Provided

1 SubmittersRCV005637977

NM_001197104.2(KMT2A):c.1150C>T (p.Gln384Ter)

SNV
Germline

Chr11:118472309

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005859813

NM_001197104.2(KMT2A):c.6080-1G>C

SNV
Germline

Chr11:118499834

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005865017

NM_001197104.2(KMT2A):c.11491A>T (p.Lys3831Ter)

SNV
Germline

Chr11:118520863

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005880654

NM_001197104.2(KMT2A):c.7936G>T (p.Glu2646Ter)

SNV
Germline

Chr11:118503828

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005884622

NM_001197104.2(KMT2A):c.430G>T (p.Glu144Ter)

SNV
Germline

Chr11:118436942

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005880777

NM_001197104.2(KMT2A):c.3597G>A (p.Trp1199Ter)

SNV
Germline

Chr11:118480201

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006252392

NM_001197104.2(KMT2A):c.3517T>A (p.Cys1173Ser)

SNV
Germline

Chr11:118478149

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006249428

NM_001197104.2(KMT2A):c.4819+2T>G

SNV
Unknown

Chr11:118491320

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006255076

NM_001197104.2(KMT2A):c.1579A>T (p.Arg527Ter)

SNV
Germline

Chr11:118472738

Pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006257949

NM_001197104.2(KMT2A):c.6175T>G (p.Trp2059Gly)

SNV
Germline

Chr11:118501003

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006257984

NM_001197104.2(KMT2A):c.3461G>T (p.Arg1154Leu)

SNV
Germline

Chr11:118478093

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006259759

NM_001197104.2(KMT2A):c.11884T>C (p.Cys3962Arg)

SNV
Germline

Chr11:118522137

Likely pathogenic

Wiedemann-Steiner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006597541