Total 520 pathogenic variants reported for Sotos syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_022455.5(NSD1):c.1310C>G (p.Ser437Ter) SNV
Germline
Chr5:177209709 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA281537 rs_121908067

2 SubmittersRCV003231077RCV003231076

NM_022455.5(NSD1):c.6151+1G>A SNV
Germline
Chr5:177283929 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Single Submitter
CA362316806 rs_1562296511

2 SubmittersRCV001818128RCV003231080

NM_022455.5(NSD1):c.6429C>G (p.His2143Gln) SNV
Germline
Chr5:177292124 Pathogenic Sotos syndrome No Assertion Criteria Provided
CA281540 rs_121908068

1 SubmittersRCV003231081

NM_022455.5(NSD1):c.6548G>C (p.Cys2183Ser) SNV
Germline
Chr5:177293916 Pathogenic Sotos syndrome No Assertion Criteria Provided
CA281542 rs_121908069

1 SubmittersRCV003231082

NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) SNV
Germline
Chr5:177238273 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA281545 rs_121908070

7 SubmittersRCV000487238RCV003231085

NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr) SNV
Germline
Chr5:177293973 Pathogenic/Likely pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA281548 rs_121908071

3 SubmittersRCV001813734RCV003231088

NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) SNV
Germline
Chr17:63957427 Pathogenic/Likely pathogenic Familial hyperkalemic periodic paralysis
Paramyotonia congenita/hyperkalemic periodic paralysis
Condition: not provided
6 conditions
Hypokalemic periodic paralysis, type 2
Sotos syndrome
SCN4A-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA117833 rs_80338957

16 SubmittersRCV000006254RCV000006255RCV000255373RCV000763020RCV002291266RCV003231090RCV004532296

NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) SNV
Germline
Chr5:177209763 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
NSD1-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA223639 rs_143585233

8 SubmittersRCV000082099RCV002313817RCV003231117RCV003935067RCV005055571

NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp) SNV
Germline
Chr5:177210065 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
not specified
Criteria Provided
Conflicting Classifications
CA223642 rs_143571876

5 SubmittersRCV000082102RCV002390241RCV003231120RCV005434631

NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu) SNV
Germline
Chr5:177210749 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA223652 rs_374740802

5 SubmittersRCV000082110RCV002444551RCV003231126

NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) SNV
Germline
Chr5:177210798 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA223655 rs_142023792

5 SubmittersRCV000082111RCV003258665RCV003231127

NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) SNV
Germline
Chr5:177211487 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA223664 rs_61756006

5 SubmittersRCV000254116RCV000723654RCV002316269RCV003231130

NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) SNV
Germline
Chr5:177211549 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
NSD1-related disorder
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA223667 rs_144257298

7 SubmittersRCV000082117RCV002313819RCV003945026RCV003231131

NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) SNV
Germline
Chr5:177211788 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA223670 rs_113856002

6 SubmittersRCV000254432RCV000723620RCV002453408RCV003231133

NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) SNV
Germline
Chr5:177211792 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
NSD1-related disorder
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA223673 rs_150296373

8 SubmittersRCV000723570RCV002313820RCV003952525RCV003231134

NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) SNV
Germline
Chr5:177246772 Conflicting classifications of pathogenicity not specified
Sotos syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA223679 rs_150920473

7 SubmittersRCV000242052RCV003231137RCV005089551RCV002311709

NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) SNV
Germline
Chr5:177257077 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
NSD1-related disorder
Criteria Provided
Conflicting Classifications
CA223685 rs_201857437

8 SubmittersRCV000723729RCV002336237RCV003231139RCV003935069

NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) SNV
Germline
Chr5:177273682 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
NSD1-related disorder
Criteria Provided
Conflicting Classifications
CA223689 rs_140815139

8 SubmittersRCV000723571RCV002313821RCV003231141RCV003964944

NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) SNV
Germline
Chr5:177280723 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA149203 rs_61749654

11 SubmittersRCV000082129RCV002354282RCV003231142RCV001795151

NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) SNV
Germline
Chr5:177288840 Conflicting classifications of pathogenicity Condition: not provided
not specified
See cases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA223692 rs_398124380

5 SubmittersRCV000493737RCV001818251RCV003156070RCV003231143

NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) SNV
Germline
Chr5:177294944 Conflicting classifications of pathogenicity Condition: not provided
Beckwith-Wiedemann syndrome
Sotos syndrome
not specified
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA223709 rs_373932824

9 SubmittersRCV000082142RCV000515435RCV001172456RCV002390242RCV003231150

NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) SNV
Germline
Chr5:177294965 Conflicting classifications of pathogenicity not specified
Condition: not provided
Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA172861 rs_398124386

5 SubmittersRCV000146951RCV000723554RCV003231151RCV003162516

NM_022455.5(NSD1):c.142A>G (p.Met48Val) SNV
Germline
Chr5:177135245 Conflicting classifications of pathogenicity Sotos syndrome
NSD1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA294796 rs_200735877

3 SubmittersRCV003231169RCV004751291RCV005055609

NM_022455.5(NSD1):c.1149C>T (p.Ile383=) SNV
Germline
Chr5:177204205 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA180258 rs_34921128

7 SubmittersRCV000153607RCV003311695RCV002316937RCV003231164

NM_022455.5(NSD1):c.1224A>G (p.Gly408=) SNV
Germline
Chr5:177204280 Conflicting classifications of pathogenicity Condition: not provided
NSD1-related disorder
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA294786 rs_587784069

4 SubmittersRCV005089684RCV003895031RCV003231165

NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter) SNV
Germline
Chr5:177209661 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294790 rs_587784071

1 SubmittersRCV003231167

NM_022455.5(NSD1):c.1428G>A (p.Leu476=) SNV
Germline
Chr5:177209827 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA294793 rs_587784072

2 SubmittersRCV003231168RCV005089685

NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) SNV
Germline
Chr5:177209957 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA294803 rs_559617787

6 SubmittersRCV001719919RCV002312966RCV003231173

NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) SNV
Germline
Chr5:177210209 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294806 rs_587784076

6 SubmittersRCV000431725RCV003231175

NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) SNV
Germline
Chr5:177210230 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294812 rs_587784077

7 SubmittersRCV000294223RCV003231177

NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter) SNV
Germline
Chr5:177210675 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294820 rs_587784084

1 SubmittersRCV003231186

NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter) SNV
Germline
Chr5:177210738 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294824 rs_201327209

1 SubmittersRCV003231189

NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter) SNV
Germline
Chr5:177211053 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294829 rs_587784088

1 SubmittersRCV003231192

NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) SNV
Germline
Chr5:177211095 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA172789 rs_142703625

6 SubmittersRCV000146791RCV000557627RCV002426704RCV003231193

NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) SNV
Germline
Chr5:177211399 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA234434 rs_150854966

6 SubmittersRCV000723914RCV002433633RCV003231198

NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) SNV
Germline
Chr5:177211466 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294839 rs_587784095

6 SubmittersRCV001588994RCV003231200

NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter) SNV
Germline
Chr5:177211490 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294842 rs_587784096

4 SubmittersRCV000443994RCV003231202

NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) SNV
Germline
Chr5:177211613 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294846 rs_587784098

7 SubmittersRCV000733891RCV003231205

NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) SNV
Germline
Chr5:177235863 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA294854 rs_587784105

4 SubmittersRCV003231217RCV005089691

NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter) SNV
Germline
Chr5:177238279 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294857 rs_587784107

6 SubmittersRCV000490145RCV003231219

NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter) SNV
Germline
Chr5:177238372 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294863 rs_587784109

1 SubmittersRCV003231221

NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter) SNV
Germline
Chr5:177238391 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA294866 rs_587784110

2 SubmittersRCV003231222RCV005089695

NM_022455.5(NSD1):c.4192+2T>G SNV
Germline
Chr5:177238509 Pathogenic Inborn genetic diseases
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294869 rs_587784111

3 SubmittersRCV001265843RCV003231223

NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) SNV
Germline
Chr5:177244220 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA294871 rs_141911573

4 SubmittersRCV002326856RCV005089696RCV003231225

NM_022455.5(NSD1):c.4378+1G>A SNV
Germline
Chr5:177244271 Pathogenic/Likely pathogenic Sotos syndrome
Acute myeloid leukemia
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294878 rs_587784115

3 SubmittersRCV000760278RCV003231228

NM_022455.5(NSD1):c.4378+7A>G SNV
Germline
Chr5:177244277 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA294879 rs_587784116

2 SubmittersRCV003231229RCV005089697

NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter) SNV
Germline
Chr5:177246710 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294880 rs_570278338

5 SubmittersRCV003441756RCV003231230

NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) SNV
Germline
Chr5:177246716 Pathogenic Condition: not provided
Inborn genetic diseases
Sotos syndrome
NSD1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA294883 rs_587784117

7 SubmittersRCV000492820RCV001267305RCV003231231RCV003398786

NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter) SNV
Germline
Chr5:177246743 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294886 rs_587784118

1 SubmittersRCV003231232

NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter) SNV
Germline
Chr5:177246792 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294889 rs_587784119

1 SubmittersRCV003231233

NM_022455.5(NSD1):c.4498-3A>G SNV
Germline
Chr5:177248178 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA294892 rs_587784120

2 SubmittersRCV003231234RCV005089698

NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) SNV
Germline
Chr5:177248247 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
NSD1-related disorder
Criteria Provided
Conflicting Classifications
CA294894 rs_201483724

6 SubmittersRCV000340723RCV002316941RCV003231238RCV003965107

NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) SNV
Germline
Chr5:177248288 Conflicting classifications of pathogenicity not specified
Weaver syndrome
Inborn genetic diseases
Condition: not provided
Sotos syndrome
NSD1-related disorder
Criteria Provided
Conflicting Classifications
CA172831 rs_140229717

7 SubmittersRCV000146843RCV000291870RCV002316942RCV003430710RCV003231239RCV003917447

NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter) SNV
Germline
Chr5:177251769 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA294897 rs_587784122

2 SubmittersRCV003231240RCV005620346

NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter) SNV
Germline
Chr5:177251841 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294903 rs_587784126

3 SubmittersRCV000760933RCV003231244

NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) SNV
Germline
Chr5:177257002 Pathogenic/Likely pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294906 rs_587784127

4 SubmittersRCV005089699RCV003231245

NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser) SNV
Germline
Chr5:177257029 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294909 rs_398124378

1 SubmittersRCV003231246

NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser) SNV
Germline
Chr5:177257040 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294912 rs_587784128

1 SubmittersRCV003231247

NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly) SNV
Germline
Chr5:177257040 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294915 rs_587784128

1 SubmittersRCV003231248

NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe) SNV
Germline
Chr5:177257092 Conflicting classifications of pathogenicity Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA294918 rs_587784129

2 SubmittersRCV003231250RCV002336291

NM_022455.5(NSD1):c.4966G>T (p.Gly1656Cys) SNV
Germline
Chr5:177257151 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294923 rs_587784132

1 SubmittersRCV003231253

NM_022455.5(NSD1):c.4966+1G>A SNV
Germline
Chr5:177257152 Pathogenic See cases
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294922 rs_587784131

2 SubmittersRCV002254683RCV003231252

NM_022455.5(NSD1):c.4966+15T>C SNV
Germline
Chr5:177257166 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA294921 rs_587784130

4 SubmittersRCV003231251RCV005089700

NM_022455.5(NSD1):c.4967-2A>T SNV
Germline
Chr5:177259987 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294926 rs_587784133

1 SubmittersRCV003231254

NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) SNV
Germline
Chr5:177260009 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA294927 rs_587784134

3 SubmittersRCV001753524RCV003231255

NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr) SNV
Germline
Chr5:177260043 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294930 rs_587784135

1 SubmittersRCV003231256

NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter) SNV
Germline
Chr5:177260120 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294933 rs_587784137

5 SubmittersRCV001823116RCV003231258

NM_022455.5(NSD1):c.5141C>G (p.Ser1714Ter) SNV
Germline
Chr5:177260163 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294936 rs_587784138

1 SubmittersRCV003231259

NM_022455.5(NSD1):c.5146+1G>A SNV
Germline
Chr5:177260169 Pathogenic/Likely pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA294939 rs_587784139

3 SubmittersRCV003231260RCV005089701

NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr) SNV
Germline
Chr5:177267613 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294940 rs_587784140

1 SubmittersRCV003231261

NM_022455.5(NSD1):c.5303+1G>C SNV
Germline
Chr5:177267719 Pathogenic/Likely pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA294943 rs_587784141

3 SubmittersRCV003231262RCV005208700

NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter) SNV
Germline
Chr5:177269607 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294944 rs_587784142

3 SubmittersRCV000760587RCV003231263

NM_022455.5(NSD1):c.5375G>A (p.Gly1792Glu) SNV
Germline
Chr5:177269673 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294947 rs_587784143

1 SubmittersRCV003231264

NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro) SNV
Germline
Chr5:177269688 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294950 rs_587784144

1 SubmittersRCV003231265

NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro) SNV
Germline
Chr5:177269717 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294954 rs_587784146

1 SubmittersRCV003231267

NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter) SNV
Germline
Chr5:177269723 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA294957 rs_587784147

2 SubmittersRCV003231268RCV005089702

NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter) SNV
Germline
Chr5:177269729 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294960 rs_587784148

6 SubmittersRCV002469024RCV003231269

NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln) SNV
Germline
Chr5:177269730 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294963 rs_587784149

1 SubmittersRCV003231270

NM_022455.5(NSD1):c.5471A>G (p.Asp1824Gly) SNV
Germline
Chr5:177269769 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294966 rs_587784150

1 SubmittersRCV003231271

NM_022455.5(NSD1):c.5566C>T (p.Gln1856Ter) SNV
Germline
Chr5:177273728 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294969 rs_587784151

1 SubmittersRCV003231272

NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys) SNV
Germline
Chr5:177280682 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294974 rs_587784154

5 SubmittersRCV000493073RCV003231275

NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro) SNV
Germline
Chr5:177280683 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294977 rs_587784155

1 SubmittersRCV003231276

NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser) SNV
Germline
Chr5:177280740 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294980 rs_587784156

1 SubmittersRCV003231277

NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter) SNV
Germline
Chr5:177280742 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294983 rs_587784157

1 SubmittersRCV003231278

NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter) SNV
Germline
Chr5:177280747 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294986 rs_587784158

1 SubmittersRCV003231279

NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys) SNV
Germline
Chr5:177280804 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294992 rs_587784160

1 SubmittersRCV003231281

NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr) SNV
Germline
Chr5:177280827 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA294995 rs_587784162

3 SubmittersRCV003231282RCV005208701

NM_022455.5(NSD1):c.5893-2A>G SNV
Germline
Chr5:177282463 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA294998 rs_587784163

1 SubmittersRCV003231283

NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val) SNV
Germline
Chr5:177282490 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295001 rs_587784166

1 SubmittersRCV003231286

NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys) SNV
Germline
Chr5:177282499 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295004 rs_587784167

1 SubmittersRCV003231287

NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter) SNV
Germline
Chr5:177282510 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295007 rs_587784168

1 SubmittersRCV003231288

NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln) SNV
Germline
Chr5:177282523 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295010 rs_587784169

5 SubmittersRCV000405920RCV003231289

NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) SNV
Germline
Chr5:177282537 Pathogenic Sotos syndrome
Acute myeloid leukemia
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295012 rs_587784170

3 SubmittersRCV000763137RCV003231290

NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His) SNV
Germline
Chr5:177282561 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295015 rs_587784171

3 SubmittersRCV000493770RCV003231291

NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) SNV
Germline
Chr5:177283790 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295021 rs_587784173

9 SubmittersRCV000255064RCV003231293

NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) SNV
Germline
Chr5:177283791 Pathogenic/Likely pathogenic Beckwith-Wiedemann syndrome
Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295024 rs_587784174

5 SubmittersRCV000793328RCV000286929RCV003231294

NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) SNV
Germline
Chr5:177283820 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA295026 rs_587784175

3 SubmittersRCV003231295RCV005089704

NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) SNV
Germline
Chr5:177283826 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295029 rs_587784176

7 SubmittersRCV000724072RCV003231296

NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) SNV
Germline
Chr5:177283827 Pathogenic/Likely pathogenic 9 conditions
7 conditions
Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295031 rs_587784177

9 SubmittersRCV000414978RCV000415049RCV000290468RCV003231297

NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser) SNV
Germline
Chr5:177283836 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295033 rs_587784178

3 SubmittersRCV001561957RCV003231298

NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter) SNV
Germline
Chr5:177283847 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295036 rs_587784179

4 SubmittersRCV000578910RCV003231299

NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser) SNV
Germline
Chr5:177283857 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295039 rs_587784180

1 SubmittersRCV003231300

NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile) SNV
Germline
Chr5:177283863 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA295042 rs_587784181

3 SubmittersRCV003231301RCV004760397

NM_022455.5(NSD1):c.6152-14G>A SNV
Germline
Chr5:177288805 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA234443 rs_587784182

8 SubmittersRCV000153612RCV003231302RCV004955289

NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter) SNV
Germline
Chr5:177288824 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295045 rs_587784183

1 SubmittersRCV003231303

NM_022455.5(NSD1):c.6258+1G>A SNV
Germline
Chr5:177288926 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295049 rs_587784185

1 SubmittersRCV003231305

NM_022455.5(NSD1):c.6259-8A>T SNV
Germline
Chr5:177291946 Conflicting classifications of pathogenicity Condition: not provided
not specified
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA295050 rs_370529039

6 SubmittersRCV001573705RCV001726001RCV003231306

NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter) SNV
Germline
Chr5:177292002 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295052 rs_587784187

1 SubmittersRCV003231308

NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter) SNV
Germline
Chr5:177292005 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295055 rs_587784188

3 SubmittersRCV002291571RCV003231309

NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) SNV
Germline
Chr5:177292044 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA295059 rs_587784190

7 SubmittersRCV000342078RCV002512583RCV003231311

NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly) SNV
Germline
Chr5:177292051 Pathogenic/Likely pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA295062 rs_587784191

3 SubmittersRCV003231312RCV005089705

NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val) SNV
Germline
Chr5:177292072 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295066 rs_587784193

1 SubmittersRCV003231314

NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) SNV
Germline
Chr5:177292108 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA295069 rs_587784195

3 SubmittersRCV005089706RCV003231315

NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu) SNV
Germline
Chr5:177292113 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295072 rs_587784196

1 SubmittersRCV003231316

NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) SNV
Germline
Chr5:177292149 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295077 rs_587784199

6 SubmittersRCV000394674RCV003231319

NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) SNV
Germline
Chr5:177292150 Pathogenic/Likely pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295080 rs_587784200

7 SubmittersRCV001575807RCV003231320

NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter) SNV
Germline
Chr5:177293840 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295083 rs_587784201

1 SubmittersRCV003231321

NM_022455.5(NSD1):c.6476G>A (p.Cys2159Tyr) SNV
Germline
Chr5:177293844 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295086 rs_587784202

1 SubmittersRCV003231322

NM_022455.5(NSD1):c.6485A>C (p.His2162Pro) SNV
Germline
Chr5:177293853 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295089 rs_587784204

1 SubmittersRCV003231324

NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) SNV
Germline
Chr5:177293868 Conflicting classifications of pathogenicity Sotos syndrome Criteria Provided
Conflicting Classifications
CA295092 rs_587784205

3 SubmittersRCV003231325

NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) SNV
Germline
Chr5:177293925 Pathogenic/Likely pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA295099 rs_587784208

3 SubmittersRCV003231328RCV005055612

NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) SNV
Germline
Chr5:177293927 Pathogenic Condition: not provided
Neurodevelopmental disorder
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA295102 rs_587784209

5 SubmittersRCV001775633RCV003389045RCV003231329

NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser) SNV
Germline
Chr5:177293972 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295105 rs_587784210

1 SubmittersRCV003231330

NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys) SNV
Germline
Chr5:177294008 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA295114 rs_587784213

3 SubmittersRCV001753525RCV003231333

NM_022455.5(NSD1):c.6656G>A (p.Arg2219His) SNV
Germline
Chr5:177294024 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA295117 rs_587784214

1 SubmittersRCV003231334

NM_022455.5(NSD1):c.7391G>A (p.Arg2464His) SNV
Germline
Chr5:177294759 Conflicting classifications of pathogenicity not specified
Sotos syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA172852 rs_587784216

5 SubmittersRCV000146947RCV003231336RCV005089709RCV004955290

NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) SNV
Germline
Chr5:177295291 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA295123 rs_147033795

3 SubmittersRCV003221821RCV003231340

NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) SNV
Germline
Chr5:177295439 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA234444 rs_201823140

5 SubmittersRCV000153613RCV003231346

NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter) SNV
Germline
Chr5:177210457 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Single Submitter
CA236245 rs_786205576

1 SubmittersRCV000171389RCV004020045

NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) SNV
Germline
Chr5:177269630 Pathogenic Neurodevelopmental delay
Condition: not provided
Sotos syndrome
Acute myeloid leukemia
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA302771 rs_794727176

9 SubmittersRCV002273973RCV000724287RCV000763136RCV003231356

NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) SNV
Germline
Chr5:177280577 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA241097 rs_746599803

5 SubmittersRCV000175364RCV003298220RCV003231357

NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) SNV
Germline
Chr5:177294255 Conflicting classifications of pathogenicity Condition: not provided
NSD1-related disorder
Inborn genetic diseases
Sotos syndrome
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA242362 rs_754309202

7 SubmittersRCV000176423RCV004751336RCV002362897RCV003231358RCV003491929

NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) SNV
Germline
Chr5:177211793 Conflicting classifications of pathogenicity Condition: not provided
Weaver syndrome
NSD1-related disorder
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA246224 rs_570278983

5 SubmittersRCV000178986RCV000363481RCV003977469RCV003231360

NM_022455.5(NSD1):c.4303-4A>G SNV
Germline
Chr5:177244191 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA248219 rs_775759198

4 SubmittersRCV000723978RCV003231365

NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter) SNV
Germline
Chr5:177282522 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA319683 rs_797045057

4 SubmittersRCV003231367RCV003441773

NM_022455.5(NSD1):c.7966C>T (p.Gln2656Ter) SNV
Germline
Chr5:177295334 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA319686 rs_797045058

1 SubmittersRCV003231368

NM_022455.5(NSD1):c.-8G>A SNV
Germline
Chr5:177135096 Conflicting classifications of pathogenicity not specified
Sotos syndrome
NSD1-related disorder
Criteria Provided
Conflicting Classifications
CA206150 rs_199639292

4 SubmittersRCV000192971RCV003231370RCV003891764

NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) SNV
Germline
Chr5:177282562 Pathogenic/Likely pathogenic Inborn genetic diseases
Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA319717 rs_797045825

6 SubmittersRCV002354542RCV005089984RCV003231392

NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter) SNV
Germline
Chr5:177295151 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA319725 rs_797045834

1 SubmittersRCV003231401

NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter) SNV
Germline
Chr5:177210749 Likely pathogenic Sotos syndrome
Beckwith-Wiedemann syndrome
Criteria Provided
Single Submitter
CA319766 rs_374740802

1 SubmittersRCV000195430

NM_022455.5(NSD1):c.5304-1G>C SNV
Germline
Chr5:177269601 Pathogenic/Likely pathogenic Sotos syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA321371 rs_863224905

3 SubmittersRCV003231402

NM_022455.5(NSD1):c.72C>T (p.Ala24=) SNV
Germline
Chr5:177135175 Conflicting classifications of pathogenicity not specified
Condition: not provided
Sotos syndrome
Inborn genetic diseases
NSD1-related disorder
Criteria Provided
Conflicting Classifications
CA3576839 rs_147146776

6 SubmittersRCV000238736RCV000924126RCV003231419RCV002379070RCV003897582

NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) SNV
Germline
Chr5:177280796 Pathogenic/Likely pathogenic Condition: not provided
NSD1-related disorder
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10602921 rs_886041219

6 SubmittersRCV000345429RCV003909902RCV003231427

NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) SNV
Germline
Chr5:177273743 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10602934 rs_886041218

8 SubmittersRCV000385095RCV003231426

NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) SNV
Germline
Chr5:177210665 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3577230 rs_142657029

4 SubmittersRCV000374947RCV002446512RCV003231429

NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg) SNV
Germline
Chr5:177295416 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3578221 rs_374110615

4 SubmittersRCV000380737RCV003231430RCV004021114

NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) SNV
Germline
Chr5:177212096 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3577480 rs_771467409

4 SubmittersRCV000398185RCV003231433

NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser) SNV
Germline
Chr5:177212048 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577473 rs_372004424

2 SubmittersRCV003231448RCV005090573

NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) SNV
Germline
Chr5:177244199 Conflicting classifications of pathogenicity Weaver syndrome
Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577615 rs_574641900

5 SubmittersRCV000373929RCV003231450RCV001281556

NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu) SNV
Germline
Chr5:177294393 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3578073 rs_201609442

3 SubmittersRCV000762247RCV003231452

NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met) SNV
Germline
Chr5:177238502 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Inborn genetic diseases
NSD1-related disorder
Criteria Provided
Conflicting Classifications
CA3577570 rs_747298351

6 SubmittersRCV003231449RCV001561303RCV004955458RCV004751492

NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe) SNV
Unknown
Chr5:177283796 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA10654757 rs_1057516048

1 SubmittersRCV003231469

NM_022455.5(NSD1):c.34T>C (p.Cys12Arg) SNV
Germline
Chr5:177135137 Conflicting classifications of pathogenicity not specified
Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3576834 rs_143406017

5 SubmittersRCV000419168RCV003231475RCV003237840

NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile) SNV
Germline
Chr5:177294868 Conflicting classifications of pathogenicity not specified
Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3578145 rs_770120153

3 SubmittersRCV000434491RCV003231479RCV005090749

NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) SNV
Germline
Chr5:177210761 Pathogenic Condition: not provided
Acute myeloid leukemia
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16604930 rs_1057520339

5 SubmittersRCV000436276RCV001336054RCV003231474

NM_022455.5(NSD1):c.3512G>A (p.Arg1171His) SNV
Germline
Chr5:177211911 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3577452 rs_111638717

5 SubmittersRCV001703760RCV004955478RCV003231480

NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter) SNV
Germline
Chr5:177292121 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16611860 rs_1060501493

3 SubmittersRCV003231493RCV005056017

NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro) SNV
Germline
Chr5:177294986 Conflicting classifications of pathogenicity Inborn genetic diseases
Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3578156 rs_750441093

3 SubmittersRCV005372318RCV003231489RCV005090907

NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter) SNV
Unknown
Chr5:177209948 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362310233 rs_1131692328

1 SubmittersRCV003231507

NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys) SNV
Germline
Chr5:177210864 Conflicting classifications of pathogenicity not specified
Condition: not provided
Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3577272 rs_377684553

5 SubmittersRCV000501442RCV001591141RCV003231508RCV002316441

NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu) SNV
Germline
Chr5:177211666 Conflicting classifications of pathogenicity not specified
Sotos syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA362323263 rs_1406037834

4 SubmittersRCV000499836RCV003231626RCV005091105RCV004649178

NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) SNV
Germline
Chr5:177260091 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA362303073 rs_1554200207

2 SubmittersRCV003231510RCV005091106

NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr) SNV
Germline
Chr5:177282499 Pathogenic/Likely pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA362315804 rs_587784167

2 SubmittersRCV003231627RCV005091107

NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) SNV
Germline
Chr5:177283797 Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability
Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA362316142 rs_1554204921

3 SubmittersRCV000850418RCV003231511RCV005056091

NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) SNV
Germline
Chr5:177211614 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA3577396 rs_28932180

10 SubmittersRCV001573572RCV003231515RCV002316475RCV005434988

NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) SNV
Germline
Chr5:177280656 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA362312694 rs_1554204110

3 SubmittersRCV000523134RCV003231517

NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg) SNV
Germline
Chr5:177292158 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA362321156 rs_1554206845

3 SubmittersRCV000521971RCV003231516

NM_022455.5(NSD1):c.241A>G (p.Met81Val) SNV
Germline
Chr5:177135344 Conflicting classifications of pathogenicity Inborn genetic diseases
Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3576860 rs_763781326

4 SubmittersRCV002316479RCV003231520RCV005091255

NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr) SNV
Unknown
Chr5:177256956 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362354732 rs_1554199368

1 SubmittersRCV003231534

NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter) SNV
Germline
Chr5:177211437 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362321701 rs_1006906224

1 SubmittersRCV003231535

NM_022455.5(NSD1):c.6464-5T>C SNV
Germline
Chr5:177293827 Conflicting classifications of pathogenicity Condition: not provided
NSD1-related disorder
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3578018 rs_545039997

4 SubmittersRCV000592254RCV003945425RCV003231538

NM_022455.5(NSD1):c.6464-8G>T SNV
Germline
Chr5:177293824 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
NSD1-related disorder
Criteria Provided
Conflicting Classifications
CA3578017 rs_577262396

4 SubmittersRCV000594381RCV003231539RCV003962716

NM_022455.5(NSD1):c.1260A>G (p.Lys420=) SNV
Germline
Chr5:177209659 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA447724216 rs_1397377820

4 SubmittersRCV000596824RCV005044896

NM_022455.5(NSD1):c.6788C>T (p.Ser2263Leu) SNV
Germline
Chr5:177294156 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3578042 rs_373571733

2 SubmittersRCV001712656RCV005044900

NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln) SNV
Germline
Chr5:177204141 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577037 rs_769733603

3 SubmittersRCV003231653RCV004696961

NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) SNV
Germline
Chr5:177209877 Conflicting classifications of pathogenicity Acute myeloid leukemia
Sotos syndrome
Sotos syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577099 rs_140583358

6 SubmittersRCV000764592RCV003231557RCV002395648RCV003156267

NM_022455.5(NSD1):c.816C>A (p.Asn272Lys) SNV
Germline
Chr5:177135919 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3576960 rs_144524958

3 SubmittersRCV003231549RCV005091839

NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu) SNV
Germline
Chr5:177209766 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA3577076 rs_775730406

3 SubmittersRCV003231550RCV005091840RCV005435071

NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly) SNV
Germline
Chr5:177293915 Pathogenic/Likely pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA362323882 rs_1554207287

2 SubmittersRCV003231551RCV005208717

NM_022455.5(NSD1):c.1873G>T (p.Gly625Ter) SNV
Germline
Chr5:177210272 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362311899 rs_1286331975

1 SubmittersRCV003232063

NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr) SNV
Germline
Chr5:177212048 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA362326709 rs_372004424

3 SubmittersRCV003231570RCV005056400

NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser) SNV
Germline
Chr5:177280700 Likely pathogenic Sotos syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA362313104 rs_1554204122

2 SubmittersRCV003232066

NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter) SNV
Germline
Chr5:177292023 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362320387 rs_1554206783

1 SubmittersRCV003232068

NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr) SNV
Germline
Chr5:177293981 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362324344 rs_1554207316

1 SubmittersRCV003231572

NM_022455.5(NSD1):c.7531G>C (p.Asp2511His) SNV
Germline
Chr5:177294899 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3578150 rs_575229932

3 SubmittersRCV003231573RCV005091909

NM_022455.5(NSD1):c.4302+1G>A SNV
Germline
Chr5:177239866 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362344326 rs_1562246533

1 SubmittersRCV003232072

NM_022455.5(NSD1):c.1064-5C>A SNV
Germline
Chr5:177204115 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA808077259 rs_961502921

3 SubmittersRCV000889968RCV002314499RCV003231605

NM_022455.5(NSD1):c.682C>G (p.Pro228Ala) SNV
Germline
Chr5:177135785 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3576932 rs_770522999

6 SubmittersRCV001574544RCV002312355RCV003231600

NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) SNV
Germline
Chr5:177294216 Conflicting classifications of pathogenicity Sotos syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3578051 rs_776592297

3 SubmittersRCV003231601RCV002312372RCV005092069

NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) SNV
Germline
Chr5:177211671 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3577409 rs_764231926

3 SubmittersRCV000731509RCV003231610

NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu) SNV
Germline
Chr5:177292061 Likely pathogenic Beckwith-Wiedemann syndrome
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA362320595 rs_1562305653

2 SubmittersRCV001053071RCV003232087

NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter) SNV
Germline
Chr5:177292053 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362320538 rs_1581558015

1 SubmittersRCV003232090

NM_022455.5(NSD1):c.793A>G (p.Ile265Val) SNV
Germline
Chr5:177135896 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3576951 rs_771587260

2 SubmittersRCV003232119RCV005092428

NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter) SNV
Germline
Chr5:177209891 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA362309969 rs_1581315609

4 SubmittersRCV001796231RCV003232110

NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys) SNV
Germline
Chr5:177210478 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577192 rs_766184697

2 SubmittersRCV003232100RCV005056562

NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu) SNV
Germline
Chr5:177294048 Conflicting classifications of pathogenicity Inborn genetic diseases
Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3578027 rs_748597598

7 SubmittersRCV002360911RCV003232094RCV004721601

NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter) SNV
Germline
Chr5:177288923 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362318494 rs_1581548112

1 SubmittersRCV003232133

NM_022455.5(NSD1):c.3500G>A (p.Arg1167His) SNV
Germline
Chr5:177211899 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577446 rs_763399938

3 SubmittersRCV003232152RCV001726356

NM_022455.5(NSD1):c.3922-1G>C SNV
Unknown
Chr5:177238236 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362339453 rs_1581407682

1 SubmittersRCV003232171

NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter) SNV
Germline
Chr5:177238423 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA362341094 rs_1581408152

2 SubmittersRCV003232172RCV005092971

NM_022455.5(NSD1):c.4193-1G>A SNV
Unknown
Chr5:177239755 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362343049 rs_1581411423

1 SubmittersRCV003232173

NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter) SNV
Unknown
Chr5:177280754 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362313455 rs_1581527842

1 SubmittersRCV003232175

NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter) SNV
Germline
Chr5:177293921 Pathogenic/Likely pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA362323921 rs_1581563059

3 SubmittersRCV003232177RCV005092972

NM_022455.5(NSD1):c.4766-2A>G SNV
Germline
Chr5:177256949 Pathogenic/Likely pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA362354680 rs_1581457332

2 SubmittersRCV005093004RCV003232179

NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter) SNV
Germline
Chr5:177267711 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA362306119 rs_1581491984

4 SubmittersRCV001007962RCV003231612

NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln) SNV
Germline
Chr5:177211467 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
NSD1-related disorder
Criteria Provided
Conflicting Classifications
CA3577369 rs_756022347

3 SubmittersRCV003232193RCV005093342RCV004751867

NM_022455.5(NSD1):c.4847A>G (p.His1616Arg) SNV
Germline
Chr5:177257032 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA362355354 rs_1756522180

3 SubmittersRCV003232188RCV004597951

NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe) SNV
Germline
Chr5:177267613 Pathogenic/Likely pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA362305692 rs_587784140

2 SubmittersRCV003232207RCV005093371

NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala) SNV
Germline
Chr5:177294512 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3578095 rs_765876148

4 SubmittersRCV001546301RCV003232195RCV004960397

NM_022455.5(NSD1):c.4193-10T>C SNV
Germline
Chr5:177239746 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577588 rs_774927461

2 SubmittersRCV005036320RCV005093321

NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu) SNV
Germline
Chr5:177212091 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3577478 rs_141065357

6 SubmittersRCV001092134RCV003232215RCV002348552

NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter) SNV
Unknown
Chr5:177211571 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362322468 rs_1763344725

1 SubmittersRCV003232226

NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter) SNV
Germline
Chr5:177210293 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA362312104 rs_1481136060

3 SubmittersRCV003232237RCV005094095

NM_022455.5(NSD1):c.4332C>T (p.Gly1444=) SNV
Germline
Chr5:177244224 Conflicting classifications of pathogenicity Sotos syndrome
Inborn genetic diseases
NSD1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577616 rs_147235302

4 SubmittersRCV003232232RCV002327489RCV004751920RCV005094084

NM_022455.5(NSD1):c.2032A>G (p.Met678Val) SNV
Germline
Chr5:177210431 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
NSD1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA132829744 rs_773904155

6 SubmittersRCV001751466RCV003232258RCV004751932RCV005385002

NM_022455.5(NSD1):c.4380C>T (p.Gly1460=) SNV
Germline
Chr5:177246679 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA447725401 rs_1251583221

2 SubmittersRCV005094136RCV003232250

NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys) SNV
Germline
Chr5:177294720 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Sotos syndrome
NSD1-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA3578125 rs_200115665

8 SubmittersRCV001560579RCV002379871RCV003232249RCV004751929RCV005437031

NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp) SNV
Germline
Chr5:177211208 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577322 rs_780991637

3 SubmittersRCV003232266RCV005094183

NM_022455.5(NSD1):c.846A>C (p.Pro282=) SNV
Germline
Chr5:177135949 Conflicting classifications of pathogenicity Intellectual disability
NSD1-related disorder
Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3576965 rs_377539686

4 SubmittersRCV001251865RCV003953606RCV005038016RCV005094205

NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp) SNV
Germline
Chr5:177294019 Pathogenic Sotos syndrome No Assertion Criteria Provided
CA362324638 rs_1760069281

1 SubmittersRCV003232268

NM_022455.5(NSD1):c.5843G>A (p.Arg1948His) SNV
Germline
Chr5:177280785 Conflicting classifications of pathogenicity Sotos syndrome Criteria Provided
Conflicting Classifications
CA3577896 rs_746726463

2 SubmittersRCV003232272

NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter) SNV
Unknown
Chr5:177212085 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362327094 rs_1763389239

1 SubmittersRCV003232274

NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser) SNV
Germline
Chr5:177260088 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362303059 rs_1756866850

1 SubmittersRCV003232277

NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly) SNV
Germline
Chr5:177283790 Likely pathogenic Sotos syndrome No Assertion Criteria Provided
CA362316110 rs_587784173

1 SubmittersRCV003232281

NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu) SNV
Germline
Chr5:177294015 Likely pathogenic Sotos syndrome No Assertion Criteria Provided
CA362324593 rs_1760068807

1 SubmittersRCV003232282

NM_022455.5(NSD1):c.5509+1G>A SNV
Germline
Chr5:177269808 Pathogenic Sotos syndrome No Assertion Criteria Provided
CA362307199 rs_1757808917

1 SubmittersRCV003232286

NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp) SNV
Germline
Chr5:177209972 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA362310355 rs_1215568879

2 SubmittersRCV003232289RCV005094359

NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu) SNV
Germline
Chr5:177210200 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577146 rs_780179136

2 SubmittersRCV003232297RCV005094376

NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro) SNV
Germline
Chr5:177295046 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA362334019 rs_1388409083

2 SubmittersRCV003232296RCV005057243

NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg) SNV
Germline
Chr5:177294699 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA132863038 rs_921266576

3 SubmittersRCV003232304RCV005094396

NM_022455.5(NSD1):c.4378+1G>T SNV
Germline
Chr5:177244271 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362346865 rs_587784115

1 SubmittersRCV003232308

NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro) SNV
Germline
Chr5:177238280 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA362339722 rs_750684515

3 SubmittersRCV003232312RCV005094436

NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp) SNV
Germline
Chr5:177211520 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577381 rs_770541943

2 SubmittersRCV003232323RCV005094453

NM_022455.5(NSD1):c.4966+6G>A SNV
Germline
Chr5:177257157 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3577735 rs_373129093

4 SubmittersRCV001587360RCV003232319

NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln) SNV
Germline
Chr5:177294042 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA362324852 rs_755013078

2 SubmittersRCV003232327RCV005094460

NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter) SNV
Germline
Chr5:177210227 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362311612 rs_1763225156

1 SubmittersRCV003232351

NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter) SNV
Germline
Chr5:177211044 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA362319368 rs_2149845949

4 SubmittersRCV002243175RCV003232344

NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter) SNV
Germline
Chr5:177269743 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362307046 rs_1757804086

1 SubmittersRCV003232343

NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter) SNV
Germline
Chr5:177211508 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362322052 rs_2149847258

1 SubmittersRCV003232372

NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met) SNV
Germline
Chr5:177288867 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA362318065 rs_1759549616

4 SubmittersRCV001555706RCV003232379RCV002568354

NM_022455.5(NSD1):c.3056G>A (p.Arg1019His) SNV
Germline
Chr5:177211455 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3577367 rs_750354456

5 SubmittersRCV001563446RCV003232380RCV004952984

NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu) SNV
Germline
Chr5:177280683 Pathogenic Condition: not provided
Sotos syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA362312982 rs_587784155

4 SubmittersRCV001579829RCV005626452

NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val) SNV
Germline
Chr5:177295107 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3578172 rs_755285941

3 SubmittersRCV001665149RCV003232391

NM_022455.5(NSD1):c.5741G>A (p.Arg1914His) SNV
Germline
Chr5:177280683 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA362312978 rs_587784155

3 SubmittersRCV001771025RCV003232400

NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) SNV
Germline
Chr5:177211577 Conflicting classifications of pathogenicity Inborn genetic diseases
Sotos syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA3577390 rs_188847458

5 SubmittersRCV002324194RCV003232411RCV003237635RCV005437349

NM_022455.5(NSD1):c.2174C>T (p.Thr725Met) SNV
Germline
Chr5:177210573 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577209 rs_774810620

3 SubmittersRCV003232414RCV003237638

NM_022455.5(NSD1):c.4361C>G (p.Ser1454Ter) SNV
Unknown
Chr5:177244253 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362346753 rs_2149894799

1 SubmittersRCV003232417

NM_022455.5(NSD1):c.6258+1G>T SNV
Germline
Chr5:177288926 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362318521 rs_587784185

1 SubmittersRCV003232420

NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys) SNV
Germline
Chr5:177283892 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA362316639 rs_2127263139

3 SubmittersRCV003232426RCV005095214RCV005453337

NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg) SNV
Germline
Chr5:177209978 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA362310377 rs_1488271424

3 SubmittersRCV003232434RCV005095309

NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg) SNV
Germline
Chr5:177294213 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3578050 rs_539453877

2 SubmittersRCV003232464RCV005095416

NM_022455.5(NSD1):c.19C>A (p.Leu7Ile) SNV
Germline
Chr5:177135122 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3576832 rs_368345846

3 SubmittersRCV003232443RCV004809684

NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg) SNV
Germline
Chr5:177283902 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362316686 rs_2127263172

1 SubmittersRCV003232493

NM_022455.5(NSD1):c.1363A>G (p.Met455Val) SNV
Germline
Chr5:177209762 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577075 rs_546116718

2 SubmittersRCV003232520RCV005095528

NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg) SNV
Germline
Chr5:177257016 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362355217 rs_2149912373

1 SubmittersRCV003232526

NM_022455.5(NSD1):c.6486T>G (p.His2162Gln) SNV
Germline
Chr5:177293854 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362323364 rs_2127279165

1 SubmittersRCV003232561

NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter) SNV
Germline
Chr5:177211392 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362321463 rs_2149846817

1 SubmittersRCV003232563

NM_022455.5(NSD1):c.5303+1G>A SNV
Germline
Chr5:177267719 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362306136 rs_587784141

1 SubmittersRCV003232564

NM_022455.5(NSD1):c.3311A>G (p.His1104Arg) SNV
Germline
Chr5:177211710 Conflicting classifications of pathogenicity Sotos syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577414 rs_758125212

4 SubmittersRCV003232568RCV003324011RCV005058202

NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg) SNV
Germline
Chr5:177288875 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362318117 rs_1759551453

1 SubmittersRCV003232570

NM_022455.5(NSD1):c.1064-2A>G SNV
Germline
Chr5:177204118 Pathogenic/Likely pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA362304411 rs_2149836062

2 SubmittersRCV003232572RCV005095979

NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser) SNV
Germline
Chr5:177280680 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362312937 rs_2127257170

1 SubmittersRCV003232573

NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg) SNV
Germline
Chr5:177280700 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362313106 rs_1554204122

1 SubmittersRCV003232576

NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter) SNV
Germline
Chr5:177295356 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362335395 rs_2127285210

1 SubmittersRCV003232582

NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val) SNV
Germline
Chr5:177280800 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362313762 rs_2127257578

1 SubmittersRCV003232583

NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser) SNV
Germline
Chr5:177267564 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362305343 rs_1562278357

1 SubmittersRCV003232584

NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter) SNV
Germline
Chr5:177204263 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362305122 rs_1762715257

1 SubmittersRCV003232586

NM_022455.5(NSD1):c.4642-2A>G SNV
Germline
Chr5:177251728 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362351335 rs_2480641681

1 SubmittersRCV003232592

NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys) SNV
Germline
Chr5:177211433 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577365 rs_773655381

2 SubmittersRCV003232779RCV005098806

NM_022455.5(NSD1):c.4528A>G (p.Ser1510Gly) SNV
Germline
Chr5:177248211 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA132860354 rs_922789487

2 SubmittersRCV003232782RCV005098807

NM_022455.5(NSD1):c.3425A>G (p.Asn1142Ser) SNV
Germline
Chr5:177211824 Conflicting classifications of pathogenicity Sotos syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA362324523 rs_1460187564

3 SubmittersRCV003232786RCV004960941RCV005098816

NM_022455.5(NSD1):c.3169A>T (p.Asn1057Tyr) SNV
Germline
Chr5:177211568 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA132831078 rs_144937234

2 SubmittersRCV003232809RCV005098887

NM_022455.5(NSD1):c.1812A>T (p.Arg604=) SNV
Germline
Chr5:177210211 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA132829549 rs_565979456

2 SubmittersRCV005098911RCV003232819

NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly) SNV
Germline
Chr5:177210213 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA362311492 rs_1210587929

2 SubmittersRCV003232843RCV005098972

NM_022455.5(NSD1):c.5218G>A (p.Glu1740Lys) SNV
Germline
Chr5:177267633 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA362305782 rs_1341227088

2 SubmittersRCV005098968RCV003232841

NM_022455.5(NSD1):c.3181A>T (p.Ser1061Cys) SNV
Germline
Chr5:177211580 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3577392 rs_781336574

2 SubmittersRCV005099240RCV003232848

NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln) SNV
Germline
Chr5:177288846 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362317919 rs_2480810792

1 SubmittersRCV003232672

NM_022455.5(NSD1):c.3511C>T (p.Arg1171Cys) SNV
Germline
Chr5:177211910 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577450 rs_367790484

3 SubmittersRCV005399006RCV005098618

NM_022455.5(NSD1):c.7721C>T (p.Pro2574Leu) SNV
Germline
Chr5:177295089 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3578167 rs_150977055

2 SubmittersRCV003232717RCV005098632

NM_022455.5(NSD1):c.1634C>T (p.Thr545Met) SNV
Germline
Chr5:177210033 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3577123 rs_137993153

2 SubmittersRCV003232750RCV005098702

NM_022455.5(NSD1):c.7264G>C (p.Glu2422Gln) SNV
Germline
Chr5:177294632 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3578113 rs_765351669

2 SubmittersRCV005098714RCV003232755

NM_022455.5(NSD1):c.1840G>A (p.Val614Met) SNV
Germline
Chr5:177210239 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA3577152 rs_3733875

3 SubmittersRCV002896391RCV005059338RCV005036579

NM_022455.5(NSD1):c.3340G>T (p.Val1114Phe) SNV
Germline
Chr5:177211739 Conflicting classifications of pathogenicity Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA362323845 rs_2480464337

2 SubmittersRCV002915218RCV004725611

NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter) SNV
Germline
Chr5:177294908 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362332904 rs_2480837454

1 SubmittersRCV003232861

NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val) SNV
Unknown
Chr5:177283806 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362316190 rs_1064795588

1 SubmittersRCV003232867

NM_022455.5(NSD1):c.5629C>T (p.Arg1877Cys) SNV
Germline
Chr5:177280571 Conflicting classifications of pathogenicity See cases
Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA362311912 rs_2127256855

3 SubmittersRCV003156180RCV004961230RCV005254744

NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr) SNV
Germline
Chr5:177257104 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362356118 rs_2149912636

1 SubmittersRCV003232874

NM_022455.5(NSD1):c.3922-9T>A SNV
Germline
Chr5:177238228 Conflicting classifications of pathogenicity Sotos syndrome Criteria Provided
Conflicting Classifications
CA2573332120 rs_2480589655

2 SubmittersRCV003232875

NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter) SNV
Germline
Chr5:177235928 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362338492 rs_2480581122

1 SubmittersRCV003232876

NM_022455.5(NSD1):c.4913A>G (p.His1638Arg) SNV
Germline
Chr5:177257098 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications
CA362356045 rs_2480664753

2 SubmittersRCV003227346RCV003327305

NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser) SNV
Germline
Chr5:177257113 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362356256 rs_2480664913

1 SubmittersRCV003459832

NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser) SNV
Unknown
Chr5:177280652 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362312658 rs_2480779370

1 SubmittersRCV003333663

NM_022455.5(NSD1):c.5359A>G (p.Met1787Val) SNV
Germline
Chr5:177269657 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362306849 rs_2480730115

1 SubmittersRCV003335785

NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg) SNV
Germline
Chr5:177269672 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362306886 rs_2480730192

1 SubmittersRCV003335951

NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter) SNV
Germline
Chr5:177267683 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362306029 rs_2480720376

1 SubmittersRCV003340822

NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg) SNV
Germline
Chr5:177211413 Conflicting classifications of pathogenicity Inborn genetic diseases
Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA362321582 rs_1358404983

3 SubmittersRCV003367311RCV003492873RCV005104144

NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter) SNV
Germline
Chr5:177238255 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362339564 rs_2480589884

1 SubmittersRCV003444404

NM_022455.5(NSD1):c.5616T>A (p.His1872Gln) SNV
Germline
Chr5:177273778 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362309176 rs_2480749805

1 SubmittersRCV003493299

NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp) SNV
Germline
Chr5:177273672 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362308331 rs_2480749099

1 SubmittersRCV003886317

NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter) SNV
Germline
Chr5:177210722 Pathogenic Sotos syndrome Criteria Provided
Single Submitter
CA362315412 rs_1310684026

1 SubmittersRCV003988747

NM_022455.5(NSD1):c.5711C>T (p.Pro1904Leu) SNV
Germline
Chr5:177280653 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004596054

NM_022455.5(NSD1):c.1870A>G (p.Ile624Val) SNV
Germline
Chr5:177210269 Conflicting classifications of pathogenicity Inborn genetic diseases
Sotos syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004650491RCV005038761

NM_022455.5(NSD1):c.70G>T (p.Ala24Ser) SNV
Germline
Chr5:177135173 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004723656

NM_022455.5(NSD1):c.3796+1G>A SNV
Germline
Chr5:177212196 Pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004723665

NM_022455.5(NSD1):c.1236+2T>C SNV
Germline
Chr5:177204294 Pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788383

NM_022455.5(NSD1):c.5456A>G (p.Asp1819Gly) SNV
Germline
Chr5:177269754 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788471

NM_022455.5(NSD1):c.5293G>T (p.Gly1765Ter) SNV
Germline
Chr5:177267708 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004785922

NM_022455.5(NSD1):c.5713T>G (p.Cys1905Gly) SNV
Germline
Chr5:177280655 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004795564

NM_022455.5(NSD1):c.6362G>T (p.Cys2121Phe) SNV
Germline
Chr5:177292057 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004795811

NM_022455.5(NSD1):c.6316A>T (p.Lys2106Ter) SNV
Germline
Chr5:177292011 Pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004819934

NM_022455.5(NSD1):c.4394T>C (p.Phe1465Ser) SNV
Germline
Chr5:177246693 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043238RCV005112891

NM_022455.5(NSD1):c.4570G>A (p.Gly1524Arg) SNV
Germline
Chr5:177248253 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035494RCV005112892

NM_022455.5(NSD1):c.4882A>G (p.Met1628Val) SNV
Germline
Chr5:177257067 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005043240RCV005112893RCV005457964

NM_022455.5(NSD1):c.5038A>G (p.Lys1680Glu) SNV
Germline
Chr5:177260060 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043241RCV005112894

NM_022455.5(NSD1):c.5357A>G (p.Lys1786Arg) SNV
Germline
Chr5:177269655 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035498RCV005112895

NM_022455.5(NSD1):c.6390C>T (p.Leu2130=) SNV
Germline
Chr5:177292085 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035505RCV005112896

NM_022455.5(NSD1):c.7373T>C (p.Leu2458Pro) SNV
Germline
Chr5:177294741 Conflicting classifications of pathogenicity Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035516RCV005457965

NM_022455.5(NSD1):c.7942T>A (p.Ser2648Thr) SNV
Germline
Chr5:177295310 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035523RCV005105246

NM_022455.5(NSD1):c.8066A>G (p.Lys2689Arg) SNV
Germline
Chr5:177295434 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043253RCV005105247

NM_022455.5(NSD1):c.535A>G (p.Ser179Gly) SNV
Germline
Chr5:177135638 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035439RCV005112879

NM_022455.5(NSD1):c.1472A>G (p.Glu491Gly) SNV
Germline
Chr5:177209871 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035447RCV005112880

NM_022455.5(NSD1):c.1481G>C (p.Cys494Ser) SNV
Germline
Chr5:177209880 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005112881RCV005043220

NM_022455.5(NSD1):c.1638G>C (p.Gln546His) SNV
Germline
Chr5:177210037 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035450RCV005063305

NM_022455.5(NSD1):c.1660A>G (p.Ile554Val) SNV
Germline
Chr5:177210059 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035452RCV005112882

NM_022455.5(NSD1):c.2395G>C (p.Val799Leu) SNV
Germline
Chr5:177210794 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035464RCV005112884

NM_022455.5(NSD1):c.2846C>T (p.Pro949Leu) SNV
Germline
Chr5:177211245 Conflicting classifications of pathogenicity Sotos syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043232RCV005377693

NM_022455.5(NSD1):c.3499C>T (p.Arg1167Cys) SNV
Germline
Chr5:177211898 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035479RCV005112887

NM_022455.5(NSD1):c.3802C>T (p.Arg1268Trp) SNV
Germline
Chr5:177235826 Conflicting classifications of pathogenicity Sotos syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005035484RCV005112889RCV005448052

NM_022455.5(NSD1):c.6014G>C (p.Arg2005Pro) SNV
Germline
Chr5:177283791 Pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005054022

NM_022455.5(NSD1):c.5126G>A (p.Trp1709Ter) SNV
Germline
Chr5:177260148 Pathogenic Sotos syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005255811RCV005054590

NM_022455.5(NSD1):c.6058A>C (p.Asn2020His) SNV
Germline
Chr5:177283835 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005054990

NM_022455.5(NSD1):c.20T>C (p.Leu7Pro) SNV
Germline
Chr5:177135123 Conflicting classifications of pathogenicity Condition: not provided
Sotos syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005114677RCV005257003

NM_022455.5(NSD1):c.5823T>A (p.Tyr1941Ter) SNV
Germline
Chr5:177280765 Pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005232566

NM_022455.5(NSD1):c.5918G>A (p.Gly1973Asp) SNV
Germline
Chr5:177282490 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005238359

NM_022455.5(NSD1):c.5896G>T (p.Glu1966Ter) SNV
Germline
Chr5:177282468 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005411121

NM_022455.5(NSD1):c.4903T>G (p.Cys1635Gly) SNV
Germline
Chr5:177257088 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005411140

NM_022455.5(NSD1):c.3151G>T (p.Glu1051Ter) SNV
Germline
Chr5:177211550 Likely pathogenic Sotos syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005604253