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 SubmittersRCV003231077 RCV003231076
NM_022455.5(NSD1):c.6151+1G>A	SNV Germline	Chr5:177283929	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Single Submitter		rs_1562296511	2 SubmittersRCV001818128 RCV003231080
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 SubmittersRCV000487238 RCV003231085
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 SubmittersRCV001813734 RCV003231088
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	SNV Germline	Chr17:63957427	Pathogenic	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	13 SubmittersRCV000006254 RCV000006255 RCV000255373 RCV000763020 RCV002291266 RCV003231090 RCV004532296
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	Criteria Provided Conflicting Classifications	CA223639	rs_143585233	7 SubmittersRCV000082099 RCV002313817 RCV003231117 RCV003935067
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	Criteria Provided Conflicting Classifications	CA223642	rs_143571876	4 SubmittersRCV000082102 RCV002390241 RCV003231120
NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg)	SNV Germline	Chr5:177210228	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA223648	rs_142544192	2 SubmittersRCV000082106 RCV003231123
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 SubmittersRCV000082110 RCV002444551 RCV003231126
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)	SNV Germline	Chr5:177210798	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA223655	rs_142023792	4 SubmittersRCV000082111 RCV003231127 RCV003258665
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 SubmittersRCV000254116 RCV000723654 RCV002316269 RCV003231130
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)	SNV Germline	Chr5:177211549	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications	CA223667	rs_144257298	6 SubmittersRCV000082117 RCV002313819 RCV003231131 RCV003945026
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 SubmittersRCV000254432 RCV000723620 RCV002453408 RCV003231133
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)	SNV Germline	Chr5:177211792	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications	CA223673	rs_150296373	7 SubmittersRCV000723570 RCV002313820 RCV003231134 RCV003952525
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)	SNV Germline	Chr5:177246772	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA223679	rs_150920473	7 SubmittersRCV000242052 RCV002311709 RCV003231137
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	7 SubmittersRCV000723571 RCV002313821 RCV003231141 RCV003964944
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)	SNV Germline	Chr5:177280723	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA149203	rs_61749654	10 SubmittersRCV000082129 RCV001795151 RCV002354282 RCV003231142
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)	SNV Germline	Chr5:177288840	Conflicting classifications of pathogenicity	Condition: not provided not specified Sotos syndrome See cases	Criteria Provided Conflicting Classifications	CA223692	rs_398124380	5 SubmittersRCV000493737 RCV001818251 RCV003231143 RCV003156070
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)	SNV Germline	Chr5:177294944	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome Beckwith-Wiedemann syndrome not specified Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA223709	rs_373932824	9 SubmittersRCV000082142 RCV000515435 RCV001172456 RCV002390242 RCV003231150
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)	SNV Germline	Chr5:177294965	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA172861	rs_398124386	5 SubmittersRCV000146951 RCV000723554 RCV003162516 RCV003231151
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=)	SNV Germline	Chr5:177295147	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA223715	rs_398124388	2 SubmittersRCV000082146 RCV003231153
NM_022455.5(NSD1):c.142A>G (p.Met48Val)	SNV Germline	Chr5:177135245	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications	CA294796	rs_200735877	2 SubmittersRCV003231169
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)	SNV Germline	Chr5:177204205	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA180258	rs_34921128	7 SubmittersRCV000153607 RCV002316937 RCV003311695 RCV003231164
NM_022455.5(NSD1):c.1224A>G (p.Gly408=)	SNV Germline	Chr5:177204280	Conflicting classifications of pathogenicity	Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications	CA294786	rs_587784069	3 SubmittersRCV003231165 RCV003895031
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.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 SubmittersRCV001719919 RCV002312966 RCV003231173
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	5 SubmittersRCV000431725 RCV003231175
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 SubmittersRCV000294223 RCV003231177
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 SubmittersRCV000146791 RCV000557627 RCV002426704 RCV003231193
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 SubmittersRCV000723914 RCV002433633 RCV003231198
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	5 SubmittersRCV001588994 RCV003231200
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 SubmittersRCV000443994 RCV003231202
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	5 SubmittersRCV000733891 RCV003231205
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)	SNV Germline	Chr5:177235863	Pathogenic	18 conditions See cases Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA294854	rs_587784105	4 SubmittersRCV000735337 RCV003156076 RCV003231217
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	5 SubmittersRCV000490145 RCV003231219
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	Criteria Provided Multiple Submitters No Conflicts	CA294866	rs_587784110	2 SubmittersRCV003231222
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 SubmittersRCV001265843 RCV003231223
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser)	SNV Germline	Chr5:177244220	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA294871	rs_141911573	4 SubmittersRCV002326856 RCV003231225
NM_022455.5(NSD1):c.4378+1G>A	SNV Germline	Chr5:177244271	Pathogenic/Likely pathogenic	Acute myeloid leukemia Sotos syndrome Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA294878	rs_587784115	3 SubmittersRCV000760278 RCV003231228
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 SubmittersRCV003441756 RCV003231230
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	6 SubmittersRCV000492820 RCV001267305 RCV003231231 RCV003398786
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	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA294892	rs_587784120	1 SubmittersRCV003231234
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 SubmittersRCV000340723 RCV002316941 RCV003231238 RCV003965107
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)	SNV Germline	Chr5:177248288	Conflicting classifications of pathogenicity	not specified Weaver syndrome Inborn genetic diseases NSD1-related disorder Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA172831	rs_140229717	7 SubmittersRCV000146843 RCV000291870 RCV002316942 RCV003917447 RCV003430710 RCV003231239
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter)	SNV Germline	Chr5:177251769	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA294897	rs_587784122	1 SubmittersRCV003231240
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 SubmittersRCV000760933 RCV003231244
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)	SNV Germline	Chr5:177257002	Pathogenic/Likely pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA294906	rs_587784127	4 SubmittersRCV003231245
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	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA294918	rs_587784129	2 SubmittersRCV002336291 RCV003231250
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 SubmittersRCV002254683 RCV003231252
NM_022455.5(NSD1):c.4966+15T>C	SNV Germline	Chr5:177257166	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications	CA294921	rs_587784130	4 SubmittersRCV003231251
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 SubmittersRCV001753524 RCV003231255
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 SubmittersRCV001823116 RCV003231258
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	Criteria Provided Multiple Submitters No Conflicts	CA294939	rs_587784139	3 SubmittersRCV003231260
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	Criteria Provided Multiple Submitters No Conflicts	CA294943	rs_587784141	3 SubmittersRCV003231262
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 SubmittersRCV000760587 RCV003231263
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	Criteria Provided Single Submitter	CA294957	rs_587784147	1 SubmittersRCV003231268
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 SubmittersRCV002469024 RCV003231269
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	4 SubmittersRCV000493073 RCV003231275
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	Criteria Provided Multiple Submitters No Conflicts	CA294995	rs_587784162	3 SubmittersRCV003231282
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	4 SubmittersRCV000405920 RCV003231289
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)	SNV Germline	Chr5:177282537	Pathogenic	Acute myeloid leukemia Sotos syndrome Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295012	rs_587784170	3 SubmittersRCV000763137 RCV003231290
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 SubmittersRCV000493770 RCV003231291
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 SubmittersRCV000255064 RCV003231293
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)	SNV Germline	Chr5:177283791	Pathogenic/Likely pathogenic	Condition: not provided Beckwith-Wiedemann syndrome Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295024	rs_587784174	5 SubmittersRCV000286929 RCV000793328 RCV003231294
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)	SNV Germline	Chr5:177283820	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications	CA295026	rs_587784175	2 SubmittersRCV003231295
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	6 SubmittersRCV000724072 RCV003231296
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	SNV Germline	Chr5:177283827	Pathogenic/Likely pathogenic	Condition: not provided 9 conditions 7 conditions Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295031	rs_587784177	9 SubmittersRCV000290468 RCV000414978 RCV000415049 RCV003231297
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 SubmittersRCV001561957 RCV003231298
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 SubmittersRCV000578910 RCV003231299
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	Likely pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295042	rs_587784181	2 SubmittersRCV003231301
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 SubmittersRCV001573705 RCV001726001 RCV003231306
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 SubmittersRCV002291571 RCV003231309
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)	SNV Germline	Chr5:177292044	Pathogenic	Condition: not provided Inborn genetic diseases Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295059	rs_587784190	6 SubmittersRCV000342078 RCV002512583 RCV003231311
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)	SNV Germline	Chr5:177292051	Pathogenic/Likely pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295062	rs_587784191	3 SubmittersRCV003231312
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	Sotos syndrome	Criteria Provided Conflicting Classifications	CA295069	rs_587784195	3 SubmittersRCV003231315
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 SubmittersRCV000394674 RCV003231319
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	6 SubmittersRCV001575807 RCV003231320
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	Criteria Provided Multiple Submitters No Conflicts	CA295099	rs_587784208	3 SubmittersRCV003231328
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)	SNV Germline	Chr5:177293927	Pathogenic/Likely pathogenic	Condition: not provided Sotos syndrome Neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA295102	rs_587784209	5 SubmittersRCV001775633 RCV003231329 RCV003389045
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 SubmittersRCV001753525 RCV003231333
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	Criteria Provided Conflicting Classifications	CA172852	rs_587784216	3 SubmittersRCV000146947 RCV003231336
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)	SNV Germline	Chr5:177295291	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA295123	rs_147033795	3 SubmittersRCV003231340 RCV003221821
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 SubmittersRCV000153613 RCV003231346
NM_022455.5(NSD1):c.2103G>A (p.Lys701=)	SNV Germline	Chr5:177210502	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA234431	rs_727504053	2 SubmittersRCV000153608 RCV003231345
NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter)	SNV Germline	Chr5:177210457	Pathogenic/Likely pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA236245	rs_786205576	2 SubmittersRCV000171389 RCV004020045
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)	SNV Germline	Chr5:177269630	Pathogenic	Condition: not provided Acute myeloid leukemia Sotos syndrome Neurodevelopmental delay Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302771	rs_794727176	9 SubmittersRCV000724287 RCV000763136 RCV002273973 RCV003231356
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val)	SNV Germline	Chr5:177280577	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA241097	rs_746599803	5 SubmittersRCV000175364 RCV003231357 RCV003298220
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)	SNV Germline	Chr5:177294255	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome Hereditary cancer	Criteria Provided Conflicting Classifications	CA242362	rs_754309202	6 SubmittersRCV000176423 RCV002362897 RCV003231358 RCV003491929
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe)	SNV Germline	Chr5:177211782	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA246221	rs_559441081	2 SubmittersRCV000178985 RCV003231359
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)	SNV Germline	Chr5:177211793	Conflicting classifications of pathogenicity	Condition: not provided Weaver syndrome Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications	CA246224	rs_570278983	5 SubmittersRCV000178986 RCV000363481 RCV003231360 RCV003977469
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=)	SNV Germline	Chr5:177212161	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA246227	rs_794727734	2 SubmittersRCV000178987 RCV003231361
NM_022455.5(NSD1):c.1635G>A (p.Thr545=)	SNV Germline	Chr5:177210034	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications	CA246236	rs_371958844	5 SubmittersRCV000178993 RCV002399638 RCV003231363 RCV003895201
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 SubmittersRCV000723978 RCV003231365
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 SubmittersRCV003231367 RCV003441773
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 SubmittersRCV000192971 RCV003231370 RCV003891764
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)	SNV Germline	Chr5:177282562	Pathogenic/Likely pathogenic	Inborn genetic diseases Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA319717	rs_797045825	4 SubmittersRCV002354542 RCV003231392
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.7753G>A (p.Gly2585Arg)	SNV Germline	Chr5:177295121	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3578176	rs_140839289	2 SubmittersRCV000224225 RCV003231409
NM_022455.5(NSD1):c.72C>T (p.Ala24=)	SNV Germline	Chr5:177135175	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases NSD1-related disorder Sotos syndrome	Criteria Provided Conflicting Classifications	CA3576839	rs_147146776	6 SubmittersRCV000238736 RCV000924126 RCV002379070 RCV003897582 RCV003231419
NM_022455.5(NSD1):c.5892+1G>T	SNV Germline	Chr5:177280835	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10588401	rs_886039579	2 SubmittersRCV000255457 RCV003231617
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp)	SNV Germline	Chr5:177280796	Pathogenic/Likely pathogenic	Condition: not provided Sotos syndrome NSD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10602921	rs_886041219	5 SubmittersRCV000345429 RCV003231427 RCV003909902
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	6 SubmittersRCV000385095 RCV003231426
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 SubmittersRCV000374947 RCV002446512 RCV003231429
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 SubmittersRCV000380737 RCV003231430 RCV004021114
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile)	SNV Germline	Chr5:177257043	Conflicting classifications of pathogenicity	not specified Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577717	rs_774169673	3 SubmittersRCV000333896 RCV003231432
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)	SNV Germline	Chr5:177244199	Conflicting classifications of pathogenicity	Weaver syndrome Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577615	rs_574641900	5 SubmittersRCV000373929 RCV001281556 RCV003231450
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 SubmittersRCV000762247 RCV003231452
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met)	SNV Germline	Chr5:177238502	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577570	rs_747298351	3 SubmittersRCV001561303 RCV003231449
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	4 SubmittersRCV000419168 RCV003231475 RCV003237840
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile)	SNV Germline	Chr5:177294868	Conflicting classifications of pathogenicity	not specified Sotos syndrome	Criteria Provided Conflicting Classifications	CA3578145	rs_770120153	3 SubmittersRCV000434491 RCV003231479
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 SubmittersRCV000436276 RCV001336054 RCV003231474
NM_022455.5(NSD1):c.3512G>A (p.Arg1171His)	SNV Germline	Chr5:177211911	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577452	rs_111638717	3 SubmittersRCV001703760 RCV003231480
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)	SNV Germline	Chr5:177292121	Pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16611860	rs_1060501493	3 SubmittersRCV003231493
NM_022455.5(NSD1):c.6487C>T (p.Gln2163Ter)	SNV Germline	Chr5:177293855	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA16611920	rs_1060501494	1 SubmittersRCV003231494
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr)	SNV Germline	Chr5:177257097	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA16618177	rs_1064796568	2 SubmittersRCV000485180 RCV003231505
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 Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577272	rs_377684553	5 SubmittersRCV000501442 RCV001591141 RCV002316441 RCV003231508
NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu)	SNV Germline	Chr5:177211666	Conflicting classifications of pathogenicity	not specified Sotos syndrome	Criteria Provided Conflicting Classifications	CA362323263	rs_1406037834	2 SubmittersRCV000499836 RCV003231626
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)	SNV Germline	Chr5:177260091	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications	CA362303073	rs_1554200207	2 SubmittersRCV003231510
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr)	SNV Germline	Chr5:177282499	Likely pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362315804	rs_587784167	2 SubmittersRCV003231627
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)	SNV Germline	Chr5:177283797	Pathogenic/Likely pathogenic	Marfanoid habitus and intellectual disability Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362316142	rs_1554204921	3 SubmittersRCV000850418 RCV003231511
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)	SNV Germline	Chr5:177211614	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577396	rs_28932180	9 SubmittersRCV001573572 RCV002316475 RCV003231515
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser)	SNV Germline	Chr5:177256971	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA362354849	rs_1554199383	2 SubmittersRCV000520025 RCV003231630
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 SubmittersRCV000523134 RCV003231517
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 SubmittersRCV000521971 RCV003231516
NM_022455.5(NSD1):c.241A>G (p.Met81Val)	SNV Germline	Chr5:177135344	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA3576860	rs_763781326	4 SubmittersRCV002316479 RCV003231520
NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg)	SNV Germline	Chr5:177267592	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362305569	rs_1554201713	1 SubmittersRCV003231524
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 Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications	CA3578018	rs_545039997	4 SubmittersRCV000592254 RCV003231538 RCV003945425
NM_022455.5(NSD1):c.6464-8G>T	SNV Germline	Chr5:177293824	Conflicting classifications of pathogenicity	Condition: not provided NSD1-related disorder Sotos syndrome	Criteria Provided Conflicting Classifications	CA3578017	rs_577262396	4 SubmittersRCV000594381 RCV003962716 RCV003231539
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)	SNV Germline	Chr5:177209877	Conflicting classifications of pathogenicity	Sotos syndrome Acute myeloid leukemia Inborn genetic diseases Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577099	rs_140583358	6 SubmittersRCV000764592 RCV002395648 RCV003231557 RCV003156267
NM_022455.5(NSD1):c.5892+1G>A	SNV Germline	Chr5:177280835	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362313995	rs_886039579	1 SubmittersRCV003231547
NM_022455.5(NSD1):c.6437G>A (p.Cys2146Tyr)	SNV Germline	Chr5:177292132	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362321047	rs_1554206834	1 SubmittersRCV003231556
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys)	SNV Germline	Chr5:177135919	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications	CA3576960	rs_144524958	3 SubmittersRCV003231549
NM_022455.5(NSD1):c.983G>A (p.Trp328Ter)	SNV Germline	Chr5:177191939	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362306273	rs_1554185405	1 SubmittersRCV003232060
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)	SNV Germline	Chr5:177293915	Pathogenic/Likely pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362323882	rs_1554207287	2 SubmittersRCV003231551
NM_022455.5(NSD1):c.7180A>G (p.Ile2394Val)	SNV Germline	Chr5:177294548	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362328727	rs_1554207690	1 SubmittersRCV003231546
NM_022455.5(NSD1):c.1873G>T (p.Gly625Ter)	SNV Germline	Chr5:177210272	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1286331975	1 SubmittersRCV003232063
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser)	SNV Germline	Chr5:177280700	Likely pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts		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		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		rs_1554207316	1 SubmittersRCV003231572
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)	SNV Germline	Chr5:177294899	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications		rs_575229932	3 SubmittersRCV003231573
NM_022455.5(NSD1):c.4302+1G>A	SNV Germline	Chr5:177239866	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1562246533	1 SubmittersRCV003232072
NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met)	SNV Germline	Chr5:177280678	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1562292890	1 SubmittersRCV003232081
NM_022455.5(NSD1):c.6152-5T>G	SNV Germline	Chr5:177288814	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_755758018	1 SubmittersRCV003231585
NM_022455.5(NSD1):c.5149G>C (p.Gly1717Arg)	SNV Germline	Chr5:177267564	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1562278357	1 SubmittersRCV003231584
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter)	SNV Germline	Chr5:177295058	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_749416834	1 SubmittersRCV003231598
NM_022455.5(NSD1):c.6424T>G (p.Tyr2142Asp)	SNV Germline	Chr5:177292119	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1562305920	1 SubmittersRCV003232079
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		rs_961502921	3 SubmittersRCV000889968 RCV002314499 RCV003231605
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		rs_770522999	5 SubmittersRCV001574544 RCV002312355 RCV003231600
NM_022455.5(NSD1):c.887C>G (p.Pro296Arg)	SNV Germline	Chr5:177135990	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications		rs_1189702665	2 SubmittersRCV002315448 RCV003232083
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro)	SNV Germline	Chr5:177294216	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications		rs_776592297	3 SubmittersRCV002312372 RCV003231601
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		rs_1562305653	2 SubmittersRCV001053071 RCV003232087
NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter)	SNV Germline	Chr5:177292053	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1581558015	1 SubmittersRCV003232090
NM_022455.5(NSD1):c.793A>G (p.Ile265Val)	SNV Germline	Chr5:177135896	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications		rs_771587260	2 SubmittersRCV003232119
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		rs_1581315609	4 SubmittersRCV001796231 RCV003232110
NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter)	SNV Germline	Chr5:177280791	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1581527915	1 SubmittersRCV003232122
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu)	SNV Germline	Chr5:177294048	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications		rs_748597598	5 SubmittersRCV002360911 RCV003232094
NM_022455.5(NSD1):c.4379-2A>G	SNV Germline	Chr5:177246676	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1581429903	1 SubmittersRCV003232098
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)	SNV Germline	Chr5:177288923	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1581548112	1 SubmittersRCV003232133
NM_022455.5(NSD1):c.6463+8C>A	SNV Germline	Chr5:177292166	Conflicting classifications of pathogenicity	See cases Sotos syndrome	Criteria Provided Conflicting Classifications		rs_147592452	2 SubmittersRCV002252259 RCV003232138
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His)	SNV Germline	Chr5:177211899	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications		rs_763399938	3 SubmittersRCV001726356 RCV003232152
NM_022455.5(NSD1):c.3922-1G>C	SNV Unknown	Chr5:177238236	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1581407682	1 SubmittersRCV003232171
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)	SNV Germline	Chr5:177238423	Pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1581408152	2 SubmittersRCV003232172
NM_022455.5(NSD1):c.4193-1G>A	SNV Unknown	Chr5:177239755	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1581411423	1 SubmittersRCV003232173
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter)	SNV Unknown	Chr5:177280754	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1581527842	1 SubmittersRCV003232175
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter)	SNV Unknown	Chr5:177293921	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1581563059	1 SubmittersRCV003232177
NM_022455.5(NSD1):c.4766-2A>G	SNV Germline	Chr5:177256949	Pathogenic/Likely pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1581457332	2 SubmittersRCV003232179
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		rs_1581491984	4 SubmittersRCV001007962 RCV003231612
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)	SNV Germline	Chr5:177211467	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications		rs_756022347	2 SubmittersRCV003232193
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)	SNV Germline	Chr5:177257032	Pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1756522180	2 SubmittersRCV003232188
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)	SNV Germline	Chr5:177267613	Pathogenic/Likely pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_587784140	2 SubmittersRCV003232207
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp)	SNV Germline	Chr5:177280627	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1758797036	1 SubmittersRCV003232199
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)	SNV Germline	Chr5:177293858	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1760058101	1 SubmittersRCV003232198
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe)	SNV Germline	Chr5:177293901	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_398124382	1 SubmittersRCV003232209
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala)	SNV Germline	Chr5:177294512	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications		rs_765876148	3 SubmittersRCV001546301 RCV003232195
NM_022455.5(NSD1):c.5509+2T>G	SNV Germline	Chr5:177269809	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1581497997	1 SubmittersRCV003232197
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)	SNV Germline	Chr5:177212091	Conflicting classifications of pathogenicity	Condition: not provided Seizure Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications		rs_141065357	6 SubmittersRCV001092134 RCV001256093 RCV002348552 RCV003232215
NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter)	SNV Unknown	Chr5:177211571	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1763344725	1 SubmittersRCV003232226
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)	SNV Germline	Chr5:177210293	Pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1481136060	3 SubmittersRCV003232237
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly)	SNV Germline	Chr5:177288875	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1759551453	1 SubmittersRCV003232243
NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg)	SNV Germline	Chr5:177292131	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1759885769	1 SubmittersRCV003232239
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=)	SNV Germline	Chr5:177244224	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications		rs_147235302	3 SubmittersRCV002327489 RCV003232232
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr)	SNV Germline	Chr5:177280626	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1758796866	1 SubmittersRCV003232230
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)	SNV Germline	Chr5:177209652	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1763175962	1 SubmittersRCV003232246
NM_022455.5(NSD1):c.2032A>G (p.Met678Val)	SNV Germline	Chr5:177210431	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications		rs_773904155	4 SubmittersRCV001751466 RCV003232258
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	Criteria Provided Conflicting Classifications		rs_200115665	5 SubmittersRCV001560579 RCV002379871 RCV003232249
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)	SNV Germline	Chr5:177294019	Pathogenic	Sotos syndrome	No Assertion Criteria Provided		rs_1760069281	1 SubmittersRCV003232268
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter)	SNV Unknown	Chr5:177212085	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		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		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		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		rs_1760068807	1 SubmittersRCV003232282
NM_022455.5(NSD1):c.5509+1G>A	SNV Germline	Chr5:177269808	Pathogenic	Sotos syndrome	No Assertion Criteria Provided		rs_1757808917	1 SubmittersRCV003232286
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg)	SNV Germline	Chr5:177294699	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications		rs_921266576	3 SubmittersRCV003232304
NM_022455.5(NSD1):c.4378+1G>T	SNV Germline	Chr5:177244271	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_587784115	1 SubmittersRCV003232308
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)	SNV Germline	Chr5:177238280	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications		rs_750684515	3 SubmittersRCV003232312
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		rs_373129093	4 SubmittersRCV001587360 RCV003232319
NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser)	SNV Germline	Chr5:177293843	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1760056582	1 SubmittersRCV003232321
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln)	SNV Germline	Chr5:177294042	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications		rs_755013078	2 SubmittersRCV003232327
NM_022455.5(NSD1):c.5398G>C (p.Gly1800Arg)	SNV Germline	Chr5:177269696	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2149934419	1 SubmittersRCV003232337
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter)	SNV Germline	Chr5:177210227	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		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		rs_2149845949	4 SubmittersRCV002243175 RCV003232344
NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter)	SNV Germline	Chr5:177251743	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2149904394	1 SubmittersRCV003232340
NM_022455.5(NSD1):c.5190T>G (p.His1730Gln)	SNV Germline	Chr5:177267605	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2149931088	1 SubmittersRCV003232348
NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter)	SNV Germline	Chr5:177269743	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1757804086	1 SubmittersRCV003232343
NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter)	SNV Germline	Chr5:177211508	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		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		rs_1759549616	4 SubmittersRCV001555706 RCV003232379 RCV002568354
NM_022455.5(NSD1):c.3056G>A (p.Arg1019His)	SNV Germline	Chr5:177211455	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications		rs_750354456	4 SubmittersRCV001563446 RCV003232380
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter)	SNV Germline	Chr5:177209717	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1270264665	2 SubmittersRCV001568187 RCV003232381
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		rs_587784155	2 SubmittersRCV001771025 RCV003232400
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser)	SNV Germline	Chr5:177211577	Conflicting classifications of pathogenicity	Sotos syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_188847458	4 SubmittersRCV003232411 RCV002324194 RCV003237635
NM_022455.5(NSD1):c.1338A>T (p.Ser446=)	SNV Germline	Chr5:177209737	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_2149842674	2 SubmittersRCV003232415 RCV003237640
NM_022455.5(NSD1):c.4361C>G (p.Ser1454Ter)	SNV Unknown	Chr5:177244253	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2149894799	1 SubmittersRCV003232417
NM_022455.5(NSD1):c.6258+1G>T	SNV Germline	Chr5:177288926	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_587784185	1 SubmittersRCV003232420
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys)	SNV Germline	Chr5:177283892	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications		rs_2127263139	2 SubmittersRCV003232426
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)	SNV Germline	Chr5:177211207	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2149846283	2 SubmittersRCV001818024 RCV003232429
NM_022455.5(NSD1):c.340A>G (p.Thr114Ala)	SNV Germline	Chr5:177135443	Conflicting classifications of pathogenicity	Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications		rs_749444972	2 SubmittersRCV003232485 RCV003408003
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg)	SNV Germline	Chr5:177283902	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2127263172	1 SubmittersRCV003232493
NM_022455.5(NSD1):c.7076C>T (p.Pro2359Leu)	SNV Germline	Chr5:177294444	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications		rs_769699822	2 SubmittersRCV002548724 RCV003232441
NM_022455.5(NSD1):c.6532T>C (p.Cys2178Arg)	SNV Germline	Chr5:177293900	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2127279302	1 SubmittersRCV003232510
NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter)	SNV Germline	Chr5:177212100	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2149849285	1 SubmittersRCV003232444
NM_022455.5(NSD1):c.3220C>T (p.Arg1074Cys)	SNV Germline	Chr5:177211619	Conflicting classifications of pathogenicity	Sotos syndrome not specified	Criteria Provided Conflicting Classifications		rs_775044010	2 SubmittersRCV003232482 RCV003235633
NM_022455.5(NSD1):c.3639A>G (p.Ile1213Met)	SNV Germline	Chr5:177212038	Conflicting classifications of pathogenicity	Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications		rs_1425698482	2 SubmittersRCV003232483 RCV003893009
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter)	SNV Germline	Chr5:177260149	Pathogenic	Inborn genetic diseases Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2149918110	2 SubmittersRCV002344062 RCV003232470
NM_022455.5(NSD1):c.1163G>T (p.Gly388Val)	SNV Germline	Chr5:177204219	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2149836269	1 SubmittersRCV003232489
NM_022455.5(NSD1):c.209T>G (p.Ile70Ser)	SNV Germline	Chr5:177135312	Conflicting classifications of pathogenicity	Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_760029045	2 SubmittersRCV003232448 RCV004040543
NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter)	SNV Germline	Chr5:177238300	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2149887293	1 SubmittersRCV003232490
NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala)	SNV Germline	Chr5:177280800	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2127257578	1 SubmittersRCV003232495
NM_022455.5(NSD1):c.6475T>C (p.Cys2159Arg)	SNV Germline	Chr5:177293843	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1760056582	1 SubmittersRCV003232502
NM_022455.5(NSD1):c.5321T>A (p.Ile1774Asn)	SNV Germline	Chr5:177269619	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2149934255	1 SubmittersRCV003232499
NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu)	SNV Germline	Chr5:177260016	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2149917734	1 SubmittersRCV003232461
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg)	SNV Germline	Chr5:177257016	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		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		rs_2127279165	1 SubmittersRCV003232561
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter)	SNV Germline	Chr5:177211392	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_2149846817	1 SubmittersRCV003232563
NM_022455.5(NSD1):c.5303+1G>A	SNV Germline	Chr5:177267719	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_587784141	1 SubmittersRCV003232564
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg)	SNV Germline	Chr5:177288875	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter		rs_1759551453	1 SubmittersRCV003232570
NM_022455.5(NSD1):c.1064-2A>G	SNV Germline	Chr5:177204118	Pathogenic/Likely pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2149836062	2 SubmittersRCV003232572
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser)	SNV Germline	Chr5:177280680	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter		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		rs_1554204122	1 SubmittersRCV003232576
NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)	SNV Germline	Chr5:177295356	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232582
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)	SNV Germline	Chr5:177280800	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232583
NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser)	SNV Germline	Chr5:177267564	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232584
NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter)	SNV Germline	Chr5:177204263	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232586
NM_022455.5(NSD1):c.4642-2A>G	SNV Germline	Chr5:177251728	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232592
NM_022455.5(NSD1):c.417G>A (p.Gln139=)	SNV Germline	Chr5:177135520	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002333460 RCV003232610
NM_022455.5(NSD1):c.2560A>G (p.Thr854Ala)	SNV Germline	Chr5:177210959	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002455859 RCV003232619
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)	SNV Germline	Chr5:177293982	Pathogenic/Likely pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003232778 RCV003222456
NM_022455.5(NSD1):c.952C>T (p.Pro318Ser)	SNV Germline	Chr5:177191908	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003161741 RCV003232797
NM_022455.5(NSD1):c.3151G>A (p.Glu1051Lys)	SNV Germline	Chr5:177211550	Conflicting classifications of pathogenicity	NSD1-related disorder Sotos syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003434582 RCV003232821
NM_022455.5(NSD1):c.3664A>G (p.Asn1222Asp)	SNV Germline	Chr5:177212063	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003232817 RCV003313305
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)	SNV Germline	Chr5:177210213	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003232843
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)	SNV Germline	Chr5:177288846	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232672
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)	SNV Germline	Chr5:177292107	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232682
NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter)	SNV Germline	Chr5:177260165	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232701
NM_022455.5(NSD1):c.6355G>A (p.Asp2119Asn)	SNV Germline	Chr5:177292050	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232735
NM_022455.5(NSD1):c.6605G>T (p.Cys2202Phe)	SNV Germline	Chr5:177293973	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232745
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)	SNV Germline	Chr5:177294002	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232744
NM_022455.5(NSD1):c.4303-3T>G	SNV Germline	Chr5:177244192	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232754
NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter)	SNV Germline	Chr5:177294218	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232760
NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile)	SNV Germline	Chr5:177280680	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232771
NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)	SNV Germline	Chr5:177294908	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232861
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)	SNV Unknown	Chr5:177283806	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232867
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)	SNV Germline	Chr5:177257104	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003232874
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)	SNV Germline	Chr5:177235928	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			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			2 SubmittersRCV003227346 RCV003327305
NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)	SNV Germline	Chr5:177257113	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003459832
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)	SNV Unknown	Chr5:177280652	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003333663
NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)	SNV Germline	Chr5:177269657	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003335785
NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)	SNV Germline	Chr5:177269672	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003335951
NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)	SNV Germline	Chr5:177267683	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003340822
NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)	SNV Germline	Chr5:177238255	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003444404
NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)	SNV Germline	Chr5:177273778	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003493299
NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)	SNV Germline	Chr5:177273672	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003886317
NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)	SNV Germline	Chr5:177210722	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003988747

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 SubmittersRCV003231077 RCV003231076

NM_022455.5(NSD1):c.6151+1G>A

SNV
Germline

Chr5:177283929

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Single Submitter

rs_1562296511

2 SubmittersRCV001818128 RCV003231080

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 SubmittersRCV000487238 RCV003231085

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 SubmittersRCV001813734 RCV003231088

NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)

SNV
Germline

Chr17:63957427

Pathogenic

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

13 SubmittersRCV000006254 RCV000006255 RCV000255373 RCV000763020 RCV002291266 RCV003231090 RCV004532296

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

Criteria Provided
Conflicting Classifications

CA223639

rs_143585233

7 SubmittersRCV000082099 RCV002313817 RCV003231117 RCV003935067

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

Criteria Provided
Conflicting Classifications

CA223642

rs_143571876

4 SubmittersRCV000082102 RCV002390241 RCV003231120

NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg)

SNV
Germline

Chr5:177210228

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA223648

rs_142544192

2 SubmittersRCV000082106 RCV003231123

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 SubmittersRCV000082110 RCV002444551 RCV003231126

NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)

SNV
Germline

Chr5:177210798

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA223655

rs_142023792

4 SubmittersRCV000082111 RCV003231127 RCV003258665

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 SubmittersRCV000254116 RCV000723654 RCV002316269 RCV003231130

NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)

SNV
Germline

Chr5:177211549

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Sotos syndrome
NSD1-related disorder

Criteria Provided
Conflicting Classifications

CA223667

rs_144257298

6 SubmittersRCV000082117 RCV002313819 RCV003231131 RCV003945026

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 SubmittersRCV000254432 RCV000723620 RCV002453408 RCV003231133

NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)

SNV
Germline

Chr5:177211792

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Sotos syndrome
NSD1-related disorder

Criteria Provided
Conflicting Classifications

CA223673

rs_150296373

7 SubmittersRCV000723570 RCV002313820 RCV003231134 RCV003952525

NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)

SNV
Germline

Chr5:177246772

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA223679

rs_150920473

7 SubmittersRCV000242052 RCV002311709 RCV003231137

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

7 SubmittersRCV000723571 RCV002313821 RCV003231141 RCV003964944

NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)

SNV
Germline

Chr5:177280723

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA149203

rs_61749654

10 SubmittersRCV000082129 RCV001795151 RCV002354282 RCV003231142

NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)

SNV
Germline

Chr5:177288840

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Sotos syndrome
See cases

Criteria Provided
Conflicting Classifications

CA223692

rs_398124380

5 SubmittersRCV000493737 RCV001818251 RCV003231143 RCV003156070

NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)

SNV
Germline

Chr5:177294944

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223709

rs_373932824

9 SubmittersRCV000082142 RCV000515435 RCV001172456 RCV002390242 RCV003231150

NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)

SNV
Germline

Chr5:177294965

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA172861

rs_398124386

5 SubmittersRCV000146951 RCV000723554 RCV003162516 RCV003231151

NM_022455.5(NSD1):c.7779C>T (p.Ala2593=)

SNV
Germline

Chr5:177295147

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA223715

rs_398124388

2 SubmittersRCV000082146 RCV003231153

NM_022455.5(NSD1):c.142A>G (p.Met48Val)

SNV
Germline

Chr5:177135245

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

CA294796

rs_200735877

2 SubmittersRCV003231169

NM_022455.5(NSD1):c.1149C>T (p.Ile383=)

SNV
Germline

Chr5:177204205

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA180258

rs_34921128

7 SubmittersRCV000153607 RCV002316937 RCV003311695 RCV003231164

NM_022455.5(NSD1):c.1224A>G (p.Gly408=)

SNV
Germline

Chr5:177204280

Conflicting classifications of pathogenicity

Sotos syndrome
NSD1-related disorder

Criteria Provided
Conflicting Classifications

CA294786

rs_587784069

3 SubmittersRCV003231165 RCV003895031

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.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 SubmittersRCV001719919 RCV002312966 RCV003231173

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

5 SubmittersRCV000431725 RCV003231175

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 SubmittersRCV000294223 RCV003231177

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 SubmittersRCV000146791 RCV000557627 RCV002426704 RCV003231193

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 SubmittersRCV000723914 RCV002433633 RCV003231198

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

5 SubmittersRCV001588994 RCV003231200

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 SubmittersRCV000443994 RCV003231202

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

5 SubmittersRCV000733891 RCV003231205

NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)

SNV
Germline

Chr5:177235863

Pathogenic

18 conditions
See cases
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294854

rs_587784105

4 SubmittersRCV000735337 RCV003156076 RCV003231217

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

5 SubmittersRCV000490145 RCV003231219

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

Criteria Provided
Multiple Submitters
No Conflicts

CA294866

rs_587784110

2 SubmittersRCV003231222

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 SubmittersRCV001265843 RCV003231223

NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser)

SNV
Germline

Chr5:177244220

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA294871

rs_141911573

4 SubmittersRCV002326856 RCV003231225

NM_022455.5(NSD1):c.4378+1G>A

SNV
Germline

Chr5:177244271

Pathogenic/Likely pathogenic

Acute myeloid leukemia
Sotos syndrome
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294878

rs_587784115

3 SubmittersRCV000760278 RCV003231228

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 SubmittersRCV003441756 RCV003231230

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

6 SubmittersRCV000492820 RCV001267305 RCV003231231 RCV003398786

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

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA294892

rs_587784120

1 SubmittersRCV003231234

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 SubmittersRCV000340723 RCV002316941 RCV003231238 RCV003965107

NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)

SNV
Germline

Chr5:177248288

Conflicting classifications of pathogenicity

not specified
Weaver syndrome
Inborn genetic diseases
NSD1-related disorder
Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA172831

rs_140229717

7 SubmittersRCV000146843 RCV000291870 RCV002316942 RCV003917447 RCV003430710 RCV003231239

NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter)

SNV
Germline

Chr5:177251769

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA294897

rs_587784122

1 SubmittersRCV003231240

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 SubmittersRCV000760933 RCV003231244

NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)

SNV
Germline

Chr5:177257002

Pathogenic/Likely pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294906

rs_587784127

4 SubmittersRCV003231245

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

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA294918

rs_587784129

2 SubmittersRCV002336291 RCV003231250

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 SubmittersRCV002254683 RCV003231252

NM_022455.5(NSD1):c.4966+15T>C

SNV
Germline

Chr5:177257166

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

CA294921

rs_587784130

4 SubmittersRCV003231251

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 SubmittersRCV001753524 RCV003231255

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 SubmittersRCV001823116 RCV003231258

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

Criteria Provided
Multiple Submitters
No Conflicts

CA294939

rs_587784139

3 SubmittersRCV003231260

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

Criteria Provided
Multiple Submitters
No Conflicts

CA294943

rs_587784141

3 SubmittersRCV003231262

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 SubmittersRCV000760587 RCV003231263

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

Criteria Provided
Single Submitter

CA294957

rs_587784147

1 SubmittersRCV003231268

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 SubmittersRCV002469024 RCV003231269

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

4 SubmittersRCV000493073 RCV003231275

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

Criteria Provided
Multiple Submitters
No Conflicts

CA294995

rs_587784162

3 SubmittersRCV003231282

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

4 SubmittersRCV000405920 RCV003231289

NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)

SNV
Germline

Chr5:177282537

Pathogenic

Acute myeloid leukemia
Sotos syndrome
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295012

rs_587784170

3 SubmittersRCV000763137 RCV003231290

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 SubmittersRCV000493770 RCV003231291

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 SubmittersRCV000255064 RCV003231293

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

SNV
Germline

Chr5:177283791

Pathogenic/Likely pathogenic

Condition: not provided
Beckwith-Wiedemann syndrome
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295024

rs_587784174

5 SubmittersRCV000286929 RCV000793328 RCV003231294

NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)

SNV
Germline

Chr5:177283820

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

CA295026

rs_587784175

2 SubmittersRCV003231295

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

6 SubmittersRCV000724072 RCV003231296

NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)

SNV
Germline

Chr5:177283827

Pathogenic/Likely pathogenic

Condition: not provided
9 conditions
7 conditions
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295031

rs_587784177

9 SubmittersRCV000290468 RCV000414978 RCV000415049 RCV003231297

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 SubmittersRCV001561957 RCV003231298

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 SubmittersRCV000578910 RCV003231299

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

Likely pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295042

rs_587784181

2 SubmittersRCV003231301

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 SubmittersRCV001573705 RCV001726001 RCV003231306

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 SubmittersRCV002291571 RCV003231309

NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)

SNV
Germline

Chr5:177292044

Pathogenic

Condition: not provided
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295059

rs_587784190

6 SubmittersRCV000342078 RCV002512583 RCV003231311

NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)

SNV
Germline

Chr5:177292051

Pathogenic/Likely pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295062

rs_587784191

3 SubmittersRCV003231312

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

Sotos syndrome

Criteria Provided
Conflicting Classifications

CA295069

rs_587784195

3 SubmittersRCV003231315

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 SubmittersRCV000394674 RCV003231319

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

6 SubmittersRCV001575807 RCV003231320

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

Criteria Provided
Multiple Submitters
No Conflicts

CA295099

rs_587784208

3 SubmittersRCV003231328

NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)

SNV
Germline

Chr5:177293927

Pathogenic/Likely pathogenic

Condition: not provided
Sotos syndrome
Neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA295102

rs_587784209

5 SubmittersRCV001775633 RCV003231329 RCV003389045

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 SubmittersRCV001753525 RCV003231333

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

Criteria Provided
Conflicting Classifications

CA172852

rs_587784216

3 SubmittersRCV000146947 RCV003231336

NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)

SNV
Germline

Chr5:177295291

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295123

rs_147033795

3 SubmittersRCV003231340 RCV003221821

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 SubmittersRCV000153613 RCV003231346

NM_022455.5(NSD1):c.2103G>A (p.Lys701=)

SNV
Germline

Chr5:177210502

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA234431

rs_727504053

2 SubmittersRCV000153608 RCV003231345

NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter)

SNV
Germline

Chr5:177210457

Pathogenic/Likely pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA236245

rs_786205576

2 SubmittersRCV000171389 RCV004020045

NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)

SNV
Germline

Chr5:177269630

Pathogenic

Condition: not provided
Acute myeloid leukemia
Sotos syndrome
Neurodevelopmental delay
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA302771

rs_794727176

9 SubmittersRCV000724287 RCV000763136 RCV002273973 RCV003231356

NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val)

SNV
Germline

Chr5:177280577

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA241097

rs_746599803

5 SubmittersRCV000175364 RCV003231357 RCV003298220

NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)

SNV
Germline

Chr5:177294255

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Sotos syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA242362

rs_754309202

6 SubmittersRCV000176423 RCV002362897 RCV003231358 RCV003491929

NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe)

SNV
Germline

Chr5:177211782

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA246221

rs_559441081

2 SubmittersRCV000178985 RCV003231359

NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)

SNV
Germline

Chr5:177211793

Conflicting classifications of pathogenicity

Condition: not provided
Weaver syndrome
Sotos syndrome
NSD1-related disorder

Criteria Provided
Conflicting Classifications

CA246224

rs_570278983

5 SubmittersRCV000178986 RCV000363481 RCV003231360 RCV003977469

NM_022455.5(NSD1):c.3762C>T (p.Pro1254=)

SNV
Germline

Chr5:177212161

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA246227

rs_794727734

2 SubmittersRCV000178987 RCV003231361

NM_022455.5(NSD1):c.1635G>A (p.Thr545=)

SNV
Germline

Chr5:177210034

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Sotos syndrome
NSD1-related disorder

Criteria Provided
Conflicting Classifications

CA246236

rs_371958844

5 SubmittersRCV000178993 RCV002399638 RCV003231363 RCV003895201

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 SubmittersRCV000723978 RCV003231365

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 SubmittersRCV003231367 RCV003441773

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 SubmittersRCV000192971 RCV003231370 RCV003891764

NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)

SNV
Germline

Chr5:177282562

Pathogenic/Likely pathogenic

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA319717

rs_797045825

4 SubmittersRCV002354542 RCV003231392

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.7753G>A (p.Gly2585Arg)

SNV
Germline

Chr5:177295121

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3578176

rs_140839289

2 SubmittersRCV000224225 RCV003231409

NM_022455.5(NSD1):c.72C>T (p.Ala24=)

SNV
Germline

Chr5:177135175

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
NSD1-related disorder
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3576839

rs_147146776

6 SubmittersRCV000238736 RCV000924126 RCV002379070 RCV003897582 RCV003231419

NM_022455.5(NSD1):c.5892+1G>T

SNV
Germline

Chr5:177280835

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588401

rs_886039579

2 SubmittersRCV000255457 RCV003231617

NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp)

SNV
Germline

Chr5:177280796

Pathogenic/Likely pathogenic

Condition: not provided
Sotos syndrome
NSD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10602921

rs_886041219

5 SubmittersRCV000345429 RCV003231427 RCV003909902

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

6 SubmittersRCV000385095 RCV003231426

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 SubmittersRCV000374947 RCV002446512 RCV003231429

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 SubmittersRCV000380737 RCV003231430 RCV004021114

NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile)

SNV
Germline

Chr5:177257043

Conflicting classifications of pathogenicity

not specified
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577717

rs_774169673

3 SubmittersRCV000333896 RCV003231432

NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)

SNV
Germline

Chr5:177244199

Conflicting classifications of pathogenicity

Weaver syndrome
Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577615

rs_574641900

5 SubmittersRCV000373929 RCV001281556 RCV003231450

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 SubmittersRCV000762247 RCV003231452

NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met)

SNV
Germline

Chr5:177238502

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577570

rs_747298351

3 SubmittersRCV001561303 RCV003231449

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

4 SubmittersRCV000419168 RCV003231475 RCV003237840

NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile)

SNV
Germline

Chr5:177294868

Conflicting classifications of pathogenicity

not specified
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3578145

rs_770120153

3 SubmittersRCV000434491 RCV003231479

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 SubmittersRCV000436276 RCV001336054 RCV003231474

NM_022455.5(NSD1):c.3512G>A (p.Arg1171His)

SNV
Germline

Chr5:177211911

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577452

rs_111638717

3 SubmittersRCV001703760 RCV003231480

NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)

SNV
Germline

Chr5:177292121

Pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16611860

rs_1060501493

3 SubmittersRCV003231493

NM_022455.5(NSD1):c.6487C>T (p.Gln2163Ter)

SNV
Germline

Chr5:177293855

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA16611920

rs_1060501494

1 SubmittersRCV003231494

NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr)

SNV
Germline

Chr5:177257097

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA16618177

rs_1064796568

2 SubmittersRCV000485180 RCV003231505

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
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577272

rs_377684553

5 SubmittersRCV000501442 RCV001591141 RCV002316441 RCV003231508

NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu)

SNV
Germline

Chr5:177211666

Conflicting classifications of pathogenicity

not specified
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA362323263

rs_1406037834

2 SubmittersRCV000499836 RCV003231626

NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)

SNV
Germline

Chr5:177260091

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

CA362303073

rs_1554200207

2 SubmittersRCV003231510

NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr)

SNV
Germline

Chr5:177282499

Likely pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362315804

rs_587784167

2 SubmittersRCV003231627

NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)

SNV
Germline

Chr5:177283797

Pathogenic/Likely pathogenic

Marfanoid habitus and intellectual disability
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362316142

rs_1554204921

3 SubmittersRCV000850418 RCV003231511

NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)

SNV
Germline

Chr5:177211614

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577396

rs_28932180

9 SubmittersRCV001573572 RCV002316475 RCV003231515

NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser)

SNV
Germline

Chr5:177256971

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA362354849

rs_1554199383

2 SubmittersRCV000520025 RCV003231630

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 SubmittersRCV000523134 RCV003231517

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 SubmittersRCV000521971 RCV003231516

NM_022455.5(NSD1):c.241A>G (p.Met81Val)

SNV
Germline

Chr5:177135344

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3576860

rs_763781326

4 SubmittersRCV002316479 RCV003231520

NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg)

SNV
Germline

Chr5:177267592

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362305569

rs_1554201713

1 SubmittersRCV003231524

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
Sotos syndrome
NSD1-related disorder

Criteria Provided
Conflicting Classifications

CA3578018

rs_545039997

4 SubmittersRCV000592254 RCV003231538 RCV003945425

NM_022455.5(NSD1):c.6464-8G>T

SNV
Germline

Chr5:177293824

Conflicting classifications of pathogenicity

Condition: not provided
NSD1-related disorder
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3578017

rs_577262396

4 SubmittersRCV000594381 RCV003962716 RCV003231539

NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)

SNV
Germline

Chr5:177209877

Conflicting classifications of pathogenicity

Sotos syndrome
Acute myeloid leukemia
Inborn genetic diseases
Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577099

rs_140583358

6 SubmittersRCV000764592 RCV002395648 RCV003231557 RCV003156267

NM_022455.5(NSD1):c.5892+1G>A

SNV
Germline

Chr5:177280835

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362313995

rs_886039579

1 SubmittersRCV003231547

NM_022455.5(NSD1):c.6437G>A (p.Cys2146Tyr)

SNV
Germline

Chr5:177292132

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362321047

rs_1554206834

1 SubmittersRCV003231556

NM_022455.5(NSD1):c.816C>A (p.Asn272Lys)

SNV
Germline

Chr5:177135919

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3576960

rs_144524958

3 SubmittersRCV003231549

NM_022455.5(NSD1):c.983G>A (p.Trp328Ter)

SNV
Germline

Chr5:177191939

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362306273

rs_1554185405

1 SubmittersRCV003232060

NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)

SNV
Germline

Chr5:177293915

Pathogenic/Likely pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362323882

rs_1554207287

2 SubmittersRCV003231551

NM_022455.5(NSD1):c.7180A>G (p.Ile2394Val)

SNV
Germline

Chr5:177294548

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362328727

rs_1554207690

1 SubmittersRCV003231546

NM_022455.5(NSD1):c.1873G>T (p.Gly625Ter)

SNV
Germline

Chr5:177210272

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1286331975

1 SubmittersRCV003232063

NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser)

SNV
Germline

Chr5:177280700

Likely pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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

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

rs_1554207316

1 SubmittersRCV003231572

NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)

SNV
Germline

Chr5:177294899

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_575229932

3 SubmittersRCV003231573

NM_022455.5(NSD1):c.4302+1G>A

SNV
Germline

Chr5:177239866

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1562246533

1 SubmittersRCV003232072

NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met)

SNV
Germline

Chr5:177280678

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1562292890

1 SubmittersRCV003232081

NM_022455.5(NSD1):c.6152-5T>G

SNV
Germline

Chr5:177288814

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_755758018

1 SubmittersRCV003231585

NM_022455.5(NSD1):c.5149G>C (p.Gly1717Arg)

SNV
Germline

Chr5:177267564

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1562278357

1 SubmittersRCV003231584

NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter)

SNV
Germline

Chr5:177295058

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_749416834

1 SubmittersRCV003231598

NM_022455.5(NSD1):c.6424T>G (p.Tyr2142Asp)

SNV
Germline

Chr5:177292119

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1562305920

1 SubmittersRCV003232079

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

rs_961502921

3 SubmittersRCV000889968 RCV002314499 RCV003231605

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

rs_770522999

5 SubmittersRCV001574544 RCV002312355 RCV003231600

NM_022455.5(NSD1):c.887C>G (p.Pro296Arg)

SNV
Germline

Chr5:177135990

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_1189702665

2 SubmittersRCV002315448 RCV003232083

NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro)

SNV
Germline

Chr5:177294216

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_776592297

3 SubmittersRCV002312372 RCV003231601

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

rs_1562305653

2 SubmittersRCV001053071 RCV003232087

NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter)

SNV
Germline

Chr5:177292053

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1581558015

1 SubmittersRCV003232090

NM_022455.5(NSD1):c.793A>G (p.Ile265Val)

SNV
Germline

Chr5:177135896

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_771587260

2 SubmittersRCV003232119

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

rs_1581315609

4 SubmittersRCV001796231 RCV003232110

NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter)

SNV
Germline

Chr5:177280791

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1581527915

1 SubmittersRCV003232122

NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu)

SNV
Germline

Chr5:177294048

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_748597598

5 SubmittersRCV002360911 RCV003232094

NM_022455.5(NSD1):c.4379-2A>G

SNV
Germline

Chr5:177246676

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1581429903

1 SubmittersRCV003232098

NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)

SNV
Germline

Chr5:177288923

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1581548112

1 SubmittersRCV003232133

NM_022455.5(NSD1):c.6463+8C>A

SNV
Germline

Chr5:177292166

Conflicting classifications of pathogenicity

See cases
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_147592452

2 SubmittersRCV002252259 RCV003232138

NM_022455.5(NSD1):c.3500G>A (p.Arg1167His)

SNV
Germline

Chr5:177211899

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_763399938

3 SubmittersRCV001726356 RCV003232152

NM_022455.5(NSD1):c.3922-1G>C

SNV
Unknown

Chr5:177238236

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1581407682

1 SubmittersRCV003232171

NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)

SNV
Germline

Chr5:177238423

Pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1581408152

2 SubmittersRCV003232172

NM_022455.5(NSD1):c.4193-1G>A

SNV
Unknown

Chr5:177239755

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1581411423

1 SubmittersRCV003232173

NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter)

SNV
Unknown

Chr5:177280754

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1581527842

1 SubmittersRCV003232175

NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter)

SNV
Unknown

Chr5:177293921

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1581563059

1 SubmittersRCV003232177

NM_022455.5(NSD1):c.4766-2A>G

SNV
Germline

Chr5:177256949

Pathogenic/Likely pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1581457332

2 SubmittersRCV003232179

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

rs_1581491984

4 SubmittersRCV001007962 RCV003231612

NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)

SNV
Germline

Chr5:177211467

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_756022347

2 SubmittersRCV003232193

NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)

SNV
Germline

Chr5:177257032

Pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1756522180

2 SubmittersRCV003232188

NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)

SNV
Germline

Chr5:177267613

Pathogenic/Likely pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_587784140

2 SubmittersRCV003232207

NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp)

SNV
Germline

Chr5:177280627

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1758797036

1 SubmittersRCV003232199

NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)

SNV
Germline

Chr5:177293858

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1760058101

1 SubmittersRCV003232198

NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe)

SNV
Germline

Chr5:177293901

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_398124382

1 SubmittersRCV003232209

NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala)

SNV
Germline

Chr5:177294512

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_765876148

3 SubmittersRCV001546301 RCV003232195

NM_022455.5(NSD1):c.5509+2T>G

SNV
Germline

Chr5:177269809

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1581497997

1 SubmittersRCV003232197

NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)

SNV
Germline

Chr5:177212091

Conflicting classifications of pathogenicity

Condition: not provided
Seizure
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_141065357

6 SubmittersRCV001092134 RCV001256093 RCV002348552 RCV003232215

NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter)

SNV
Unknown

Chr5:177211571

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1763344725

1 SubmittersRCV003232226

NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)

SNV
Germline

Chr5:177210293

Pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1481136060

3 SubmittersRCV003232237

NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly)

SNV
Germline

Chr5:177288875

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1759551453

1 SubmittersRCV003232243

NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg)

SNV
Germline

Chr5:177292131

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1759885769

1 SubmittersRCV003232239

NM_022455.5(NSD1):c.4332C>T (p.Gly1444=)

SNV
Germline

Chr5:177244224

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_147235302

3 SubmittersRCV002327489 RCV003232232

NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr)

SNV
Germline

Chr5:177280626

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1758796866

1 SubmittersRCV003232230

NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)

SNV
Germline

Chr5:177209652

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1763175962

1 SubmittersRCV003232246

NM_022455.5(NSD1):c.2032A>G (p.Met678Val)

SNV
Germline

Chr5:177210431

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_773904155

4 SubmittersRCV001751466 RCV003232258

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

Criteria Provided
Conflicting Classifications

rs_200115665

5 SubmittersRCV001560579 RCV002379871 RCV003232249

NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)

SNV
Germline

Chr5:177294019

Pathogenic

Sotos syndrome

No Assertion Criteria Provided

rs_1760069281

1 SubmittersRCV003232268

NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter)

SNV
Unknown

Chr5:177212085

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

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

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

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

rs_1760068807

1 SubmittersRCV003232282

NM_022455.5(NSD1):c.5509+1G>A

SNV
Germline

Chr5:177269808

Pathogenic

Sotos syndrome

No Assertion Criteria Provided

rs_1757808917

1 SubmittersRCV003232286

NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg)

SNV
Germline

Chr5:177294699

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_921266576

3 SubmittersRCV003232304

NM_022455.5(NSD1):c.4378+1G>T

SNV
Germline

Chr5:177244271

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_587784115

1 SubmittersRCV003232308

NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)

SNV
Germline

Chr5:177238280

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_750684515

3 SubmittersRCV003232312

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

rs_373129093

4 SubmittersRCV001587360 RCV003232319

NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser)

SNV
Germline

Chr5:177293843

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1760056582

1 SubmittersRCV003232321

NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln)

SNV
Germline

Chr5:177294042

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_755013078

2 SubmittersRCV003232327

NM_022455.5(NSD1):c.5398G>C (p.Gly1800Arg)

SNV
Germline

Chr5:177269696

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2149934419

1 SubmittersRCV003232337

NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter)

SNV
Germline

Chr5:177210227

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

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

rs_2149845949

4 SubmittersRCV002243175 RCV003232344

NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter)

SNV
Germline

Chr5:177251743

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2149904394

1 SubmittersRCV003232340

NM_022455.5(NSD1):c.5190T>G (p.His1730Gln)

SNV
Germline

Chr5:177267605

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2149931088

1 SubmittersRCV003232348

NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter)

SNV
Germline

Chr5:177269743

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1757804086

1 SubmittersRCV003232343

NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter)

SNV
Germline

Chr5:177211508

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

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

rs_1759549616

4 SubmittersRCV001555706 RCV003232379 RCV002568354

NM_022455.5(NSD1):c.3056G>A (p.Arg1019His)

SNV
Germline

Chr5:177211455

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_750354456

4 SubmittersRCV001563446 RCV003232380

NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr5:177209717

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1270264665

2 SubmittersRCV001568187 RCV003232381

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

rs_587784155

2 SubmittersRCV001771025 RCV003232400

NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser)

SNV
Germline

Chr5:177211577

Conflicting classifications of pathogenicity

Sotos syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_188847458

4 SubmittersRCV003232411 RCV002324194 RCV003237635

NM_022455.5(NSD1):c.1338A>T (p.Ser446=)

SNV
Germline

Chr5:177209737

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2149842674

2 SubmittersRCV003232415 RCV003237640

NM_022455.5(NSD1):c.4361C>G (p.Ser1454Ter)

SNV
Unknown

Chr5:177244253

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2149894799

1 SubmittersRCV003232417

NM_022455.5(NSD1):c.6258+1G>T

SNV
Germline

Chr5:177288926

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_587784185

1 SubmittersRCV003232420

NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys)

SNV
Germline

Chr5:177283892

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_2127263139

2 SubmittersRCV003232426

NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)

SNV
Germline

Chr5:177211207

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149846283

2 SubmittersRCV001818024 RCV003232429

NM_022455.5(NSD1):c.340A>G (p.Thr114Ala)

SNV
Germline

Chr5:177135443

Conflicting classifications of pathogenicity

Sotos syndrome
NSD1-related disorder

Criteria Provided
Conflicting Classifications

rs_749444972

2 SubmittersRCV003232485 RCV003408003

NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg)

SNV
Germline

Chr5:177283902

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2127263172

1 SubmittersRCV003232493

NM_022455.5(NSD1):c.7076C>T (p.Pro2359Leu)

SNV
Germline

Chr5:177294444

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

rs_769699822

2 SubmittersRCV002548724 RCV003232441

NM_022455.5(NSD1):c.6532T>C (p.Cys2178Arg)

SNV
Germline

Chr5:177293900

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2127279302

1 SubmittersRCV003232510

NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter)

SNV
Germline

Chr5:177212100

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2149849285

1 SubmittersRCV003232444

NM_022455.5(NSD1):c.3220C>T (p.Arg1074Cys)

SNV
Germline

Chr5:177211619

Conflicting classifications of pathogenicity

Sotos syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_775044010

2 SubmittersRCV003232482 RCV003235633

NM_022455.5(NSD1):c.3639A>G (p.Ile1213Met)

SNV
Germline

Chr5:177212038

Conflicting classifications of pathogenicity

Sotos syndrome
NSD1-related disorder

Criteria Provided
Conflicting Classifications

rs_1425698482

2 SubmittersRCV003232483 RCV003893009

NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter)

SNV
Germline

Chr5:177260149

Pathogenic

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149918110

2 SubmittersRCV002344062 RCV003232470

NM_022455.5(NSD1):c.1163G>T (p.Gly388Val)

SNV
Germline

Chr5:177204219

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2149836269

1 SubmittersRCV003232489

NM_022455.5(NSD1):c.209T>G (p.Ile70Ser)

SNV
Germline

Chr5:177135312

Conflicting classifications of pathogenicity

Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_760029045

2 SubmittersRCV003232448 RCV004040543

NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter)

SNV
Germline

Chr5:177238300

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2149887293

1 SubmittersRCV003232490

NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala)

SNV
Germline

Chr5:177280800

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2127257578

1 SubmittersRCV003232495

NM_022455.5(NSD1):c.6475T>C (p.Cys2159Arg)

SNV
Germline

Chr5:177293843

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1760056582

1 SubmittersRCV003232502

NM_022455.5(NSD1):c.5321T>A (p.Ile1774Asn)

SNV
Germline

Chr5:177269619

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2149934255

1 SubmittersRCV003232499

NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu)

SNV
Germline

Chr5:177260016

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2149917734

1 SubmittersRCV003232461

NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg)

SNV
Germline

Chr5:177257016

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

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

rs_2127279165

1 SubmittersRCV003232561

NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter)

SNV
Germline

Chr5:177211392

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_2149846817

1 SubmittersRCV003232563

NM_022455.5(NSD1):c.5303+1G>A

SNV
Germline

Chr5:177267719

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_587784141

1 SubmittersRCV003232564

NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg)

SNV
Germline

Chr5:177288875

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

rs_1759551453

1 SubmittersRCV003232570

NM_022455.5(NSD1):c.1064-2A>G

SNV
Germline

Chr5:177204118

Pathogenic/Likely pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149836062

2 SubmittersRCV003232572

NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser)

SNV
Germline

Chr5:177280680

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

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

rs_1554204122

1 SubmittersRCV003232576

NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)

SNV
Germline

Chr5:177295356

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232582

NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)

SNV
Germline

Chr5:177280800

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232583

NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser)

SNV
Germline

Chr5:177267564

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232584

NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter)

SNV
Germline

Chr5:177204263

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232586

NM_022455.5(NSD1):c.4642-2A>G

SNV
Germline

Chr5:177251728

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232592

NM_022455.5(NSD1):c.417G>A (p.Gln139=)

SNV
Germline

Chr5:177135520

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002333460 RCV003232610

NM_022455.5(NSD1):c.2560A>G (p.Thr854Ala)

SNV
Germline

Chr5:177210959

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002455859 RCV003232619

NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)

SNV
Germline

Chr5:177293982

Pathogenic/Likely pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003232778 RCV003222456

NM_022455.5(NSD1):c.952C>T (p.Pro318Ser)

SNV
Germline

Chr5:177191908

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003161741 RCV003232797

NM_022455.5(NSD1):c.3151G>A (p.Glu1051Lys)

SNV
Germline

Chr5:177211550

Conflicting classifications of pathogenicity

NSD1-related disorder
Sotos syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003434582 RCV003232821

NM_022455.5(NSD1):c.3664A>G (p.Asn1222Asp)

SNV
Germline

Chr5:177212063

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003232817 RCV003313305

NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)

SNV
Germline

Chr5:177210213

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003232843

NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)

SNV
Germline

Chr5:177288846

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232672

NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)

SNV
Germline

Chr5:177292107

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232682

NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter)

SNV
Germline

Chr5:177260165

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232701

NM_022455.5(NSD1):c.6355G>A (p.Asp2119Asn)

SNV
Germline

Chr5:177292050

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232735

NM_022455.5(NSD1):c.6605G>T (p.Cys2202Phe)

SNV
Germline

Chr5:177293973

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232745

NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)

SNV
Germline

Chr5:177294002

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232744

NM_022455.5(NSD1):c.4303-3T>G

SNV
Germline

Chr5:177244192

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232754

NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter)

SNV
Germline

Chr5:177294218

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232760

NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile)

SNV
Germline

Chr5:177280680

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232771

NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)

SNV
Germline

Chr5:177294908

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232861

NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)

SNV
Unknown

Chr5:177283806

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232867

NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)

SNV
Germline

Chr5:177257104

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003232874

NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)

SNV
Germline

Chr5:177235928

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

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

2 SubmittersRCV003227346 RCV003327305

NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)

SNV
Germline

Chr5:177257113

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003459832

NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)

SNV
Unknown

Chr5:177280652

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003333663

NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)

SNV
Germline

Chr5:177269657

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003335785

NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)

SNV
Germline

Chr5:177269672

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003335951

NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)

SNV
Germline

Chr5:177267683

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003340822

NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)

SNV
Germline

Chr5:177238255

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003444404

NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)

SNV
Germline

Chr5:177273778

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003493299

NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)

SNV
Germline

Chr5:177273672

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003886317

NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)

SNV
Germline

Chr5:177210722

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003988747