Total 278 pathogenic variants reported for Wiedemann-Steiner syndrome 
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 SubmittersRCV000146145RCV001269710

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 SubmittersRCV000354494RCV001328711

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 SubmittersRCV000277593RCV000624173RCV003456046

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 SubmittersRCV000392937RCV000415284RCV001254088RCV001267617

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 SubmittersRCV000414422RCV000824854

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 SubmittersRCV000489772RCV001376037

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 SubmittersRCV000493579RCV000504302RCV000623546RCV002248724

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 SubmittersRCV000493938RCV000988751

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 SubmittersRCV000578132RCV000988747

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 SubmittersRCV000498571RCV002250645

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 SubmittersRCV000498743RCV001007914

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 SubmittersRCV000521526RCV001267255RCV003532154

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 SubmittersRCV000520124RCV000626313RCV004639263

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 SubmittersRCV000599486RCV001261357

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 SubmittersRCV000624019RCV001389749RCV001836647

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 SubmittersRCV000622624RCV000760554RCV001261359RCV001256980RCV003987627

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 SubmittersRCV000627376RCV002252182RCV005410911RCV006273945

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 SubmittersRCV000627271RCV001270411

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 SubmittersRCV000760622RCV002274098

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 SubmittersRCV000760944RCV003985094

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 SubmittersRCV000824819RCV002223959RCV004986644RCV005902110

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 SubmittersRCV000988746RCV001526651

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 SubmittersRCV000988749RCV004818097

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 SubmittersRCV000988753RCV001541942

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 SubmittersRCV001063493RCV005633862

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 SubmittersRCV001253369RCV005253770

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 SubmittersRCV001257641RCV004035376RCV002250739RCV005054355

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 SubmittersRCV001268657RCV005590003RCV006249735

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 SubmittersRCV001374926RCV003148986RCV004770128

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 SubmittersRCV001420263RCV005253846RCV005369877

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 SubmittersRCV001434703RCV005395019

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 SubmittersRCV001541465RCV002568253RCV005635175

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 SubmittersRCV001619760RCV003159212

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 SubmittersRCV001665395RCV003152768

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 SubmittersRCV001756461RCV001821976RCV005635193

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 SubmittersRCV001752065RCV003234098

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 SubmittersRCV001795568RCV002272499

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 SubmittersRCV001797332RCV002489842

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 SubmittersRCV001809029RCV001869591RCV006362556

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 SubmittersRCV001839397RCV002077326

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 SubmittersRCV004587283RCV002019405

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 SubmittersRCV001965871RCV003134301RCV005590243

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 SubmittersRCV002126602RCV003487023RCV006372679

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 SubmittersRCV002132375RCV002254770RCV005350909

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 SubmittersRCV002271742RCV004720358

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 SubmittersRCV002885399RCV003152806

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 SubmittersRCV003131380RCV005592652RCV003324870

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 SubmittersRCV003146836RCV003565621

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 SubmittersRCV003234327RCV004796789

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 SubmittersRCV003389287RCV003689076

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 SubmittersRCV003447727RCV006616917

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 SubmittersRCV003568144RCV005254840

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 SubmittersRCV003709057RCV004720399

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 SubmittersRCV003831944RCV004741731RCV004787064

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 SubmittersRCV003869287RCV004720404

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