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	CA362316806	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/Likely pathogenic	Familial hyperkalemic periodic paralysis Paramyotonia congenita/hyperkalemic periodic paralysis Condition: not provided 6 conditions Hypokalemic periodic paralysis, type 2 Sotos syndrome SCN4A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117833	rs_80338957	16 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 not specified	Criteria Provided Conflicting Classifications	CA223639	rs_143585233	8 SubmittersRCV000082099 RCV002313817 RCV003231117 RCV003935067 RCV005055571
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp)	SNV Germline	Chr5:177210065	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome not specified	Criteria Provided Conflicting Classifications	CA223642	rs_143571876	5 SubmittersRCV000082102 RCV002390241 RCV003231120 RCV005434631
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 Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA223655	rs_142023792	5 SubmittersRCV000082111 RCV003258665 RCV003231127
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 NSD1-related disorder Sotos syndrome	Criteria Provided Conflicting Classifications	CA223667	rs_144257298	7 SubmittersRCV000082117 RCV002313819 RCV003945026 RCV003231131
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 NSD1-related disorder Sotos syndrome	Criteria Provided Conflicting Classifications	CA223673	rs_150296373	8 SubmittersRCV000723570 RCV002313820 RCV003952525 RCV003231134
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)	SNV Germline	Chr5:177246772	Conflicting classifications of pathogenicity	not specified Sotos syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA223679	rs_150920473	7 SubmittersRCV000242052 RCV003231137 RCV005089551 RCV002311709
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)	SNV Germline	Chr5:177257077	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications	CA223685	rs_201857437	8 SubmittersRCV000723729 RCV002336237 RCV003231139 RCV003935069
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)	SNV Germline	Chr5:177273682	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications	CA223689	rs_140815139	8 SubmittersRCV000723571 RCV002313821 RCV003231141 RCV003964944
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)	SNV Germline	Chr5:177280723	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA149203	rs_61749654	11 SubmittersRCV000082129 RCV002354282 RCV003231142 RCV001795151
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)	SNV Germline	Chr5:177288840	Conflicting classifications of pathogenicity	Condition: not provided not specified See cases Sotos syndrome	Criteria Provided Conflicting Classifications	CA223692	rs_398124380	5 SubmittersRCV000493737 RCV001818251 RCV003156070 RCV003231143
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)	SNV Germline	Chr5:177294944	Conflicting classifications of pathogenicity	Condition: not provided Beckwith-Wiedemann syndrome Sotos syndrome not specified Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA223709	rs_373932824	9 SubmittersRCV000082142 RCV000515435 RCV001172456 RCV002390242 RCV003231150
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)	SNV Germline	Chr5:177294965	Conflicting classifications of pathogenicity	not specified Condition: not provided Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA172861	rs_398124386	5 SubmittersRCV000146951 RCV000723554 RCV003231151 RCV003162516
NM_022455.5(NSD1):c.142A>G (p.Met48Val)	SNV Germline	Chr5:177135245	Conflicting classifications of pathogenicity	Sotos syndrome NSD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA294796	rs_200735877	3 SubmittersRCV003231169 RCV004751291 RCV005055609
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)	SNV Germline	Chr5:177204205	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA180258	rs_34921128	7 SubmittersRCV000153607 RCV003311695 RCV002316937 RCV003231164
NM_022455.5(NSD1):c.1224A>G (p.Gly408=)	SNV Germline	Chr5:177204280	Conflicting classifications of pathogenicity	Condition: not provided NSD1-related disorder Sotos syndrome	Criteria Provided Conflicting Classifications	CA294786	rs_587784069	4 SubmittersRCV005089684 RCV003895031 RCV003231165
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter)	SNV Germline	Chr5:177209661	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA294790	rs_587784071	1 SubmittersRCV003231167
NM_022455.5(NSD1):c.1428G>A (p.Leu476=)	SNV Germline	Chr5:177209827	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA294793	rs_587784072	2 SubmittersRCV003231168 RCV005089685
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	6 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	6 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	7 SubmittersRCV000733891 RCV003231205
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)	SNV Germline	Chr5:177235863	Pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA294854	rs_587784105	4 SubmittersRCV003231217 RCV005089691
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)	SNV Germline	Chr5:177238279	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA294857	rs_587784107	6 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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA294866	rs_587784110	2 SubmittersRCV003231222 RCV005089695
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 Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA294871	rs_141911573	4 SubmittersRCV002326856 RCV005089696 RCV003231225
NM_022455.5(NSD1):c.4378+1G>A	SNV Germline	Chr5:177244271	Pathogenic/Likely pathogenic	Sotos syndrome Acute myeloid leukemia Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA294878	rs_587784115	3 SubmittersRCV000760278 RCV003231228
NM_022455.5(NSD1):c.4378+7A>G	SNV Germline	Chr5:177244277	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA294879	rs_587784116	2 SubmittersRCV003231229 RCV005089697
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	7 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	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA294892	rs_587784120	2 SubmittersRCV003231234 RCV005089698
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 Condition: not provided Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications	CA172831	rs_140229717	7 SubmittersRCV000146843 RCV000291870 RCV002316942 RCV003430710 RCV003231239 RCV003917447
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter)	SNV Germline	Chr5:177251769	Pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA294897	rs_587784122	2 SubmittersRCV003231240 RCV005620346
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	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA294906	rs_587784127	4 SubmittersRCV005089699 RCV003231245
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser)	SNV Germline	Chr5:177257029	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA294909	rs_398124378	1 SubmittersRCV003231246
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser)	SNV Germline	Chr5:177257040	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA294912	rs_587784128	1 SubmittersRCV003231247
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly)	SNV Germline	Chr5:177257040	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA294915	rs_587784128	1 SubmittersRCV003231248
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe)	SNV Germline	Chr5:177257092	Conflicting classifications of pathogenicity	Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA294918	rs_587784129	2 SubmittersRCV003231250 RCV002336291
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA294921	rs_587784130	4 SubmittersRCV003231251 RCV005089700
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA294939	rs_587784139	3 SubmittersRCV003231260 RCV005089701
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr)	SNV Germline	Chr5:177267613	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA294940	rs_587784140	1 SubmittersRCV003231261
NM_022455.5(NSD1):c.5303+1G>C	SNV Germline	Chr5:177267719	Pathogenic/Likely pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA294943	rs_587784141	3 SubmittersRCV003231262 RCV005208700
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA294957	rs_587784147	2 SubmittersRCV003231268 RCV005089702
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	5 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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA294995	rs_587784162	3 SubmittersRCV003231282 RCV005208701
NM_022455.5(NSD1):c.5893-2A>G	SNV Germline	Chr5:177282463	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA294998	rs_587784163	1 SubmittersRCV003231283
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val)	SNV Germline	Chr5:177282490	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA295001	rs_587784166	1 SubmittersRCV003231286
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys)	SNV Germline	Chr5:177282499	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA295004	rs_587784167	1 SubmittersRCV003231287
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter)	SNV Germline	Chr5:177282510	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA295007	rs_587784168	1 SubmittersRCV003231288
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)	SNV Germline	Chr5:177282523	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295010	rs_587784169	5 SubmittersRCV000405920 RCV003231289
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)	SNV Germline	Chr5:177282537	Pathogenic	Sotos syndrome Acute myeloid leukemia Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295012	rs_587784170	3 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	Beckwith-Wiedemann syndrome Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295024	rs_587784174	5 SubmittersRCV000793328 RCV000286929 RCV003231294
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)	SNV Germline	Chr5:177283820	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA295026	rs_587784175	3 SubmittersRCV003231295 RCV005089704
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)	SNV Germline	Chr5:177283826	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295029	rs_587784176	7 SubmittersRCV000724072 RCV003231296
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	SNV Germline	Chr5:177283827	Pathogenic/Likely pathogenic	9 conditions 7 conditions Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295031	rs_587784177	9 SubmittersRCV000414978 RCV000415049 RCV000290468 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	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA295042	rs_587784181	3 SubmittersRCV003231301 RCV004760397
NM_022455.5(NSD1):c.6152-14G>A	SNV Germline	Chr5:177288805	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA234443	rs_587784182	8 SubmittersRCV000153612 RCV003231302 RCV004955289
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	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA295059	rs_587784190	7 SubmittersRCV000342078 RCV002512583 RCV003231311
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)	SNV Germline	Chr5:177292051	Pathogenic/Likely pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA295062	rs_587784191	3 SubmittersRCV003231312 RCV005089705
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val)	SNV Germline	Chr5:177292072	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA295066	rs_587784193	1 SubmittersRCV003231314
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)	SNV Germline	Chr5:177292108	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA295069	rs_587784195	3 SubmittersRCV005089706 RCV003231315
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	7 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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA295099	rs_587784208	3 SubmittersRCV003231328 RCV005055612
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)	SNV Germline	Chr5:177293927	Pathogenic	Condition: not provided Neurodevelopmental disorder Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA295102	rs_587784209	5 SubmittersRCV001775633 RCV003389045 RCV003231329
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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA172852	rs_587784216	5 SubmittersRCV000146947 RCV003231336 RCV005089709 RCV004955290
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)	SNV Germline	Chr5:177295291	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA295123	rs_147033795	3 SubmittersRCV003221821 RCV003231340
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.2058T>A (p.Tyr686Ter)	SNV Germline	Chr5:177210457	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Single Submitter	CA236245	rs_786205576	1 SubmittersRCV000171389 RCV004020045
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)	SNV Germline	Chr5:177269630	Pathogenic	Neurodevelopmental delay Condition: not provided Sotos syndrome Acute myeloid leukemia Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302771	rs_794727176	9 SubmittersRCV002273973 RCV000724287 RCV000763136 RCV003231356
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val)	SNV Germline	Chr5:177280577	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA241097	rs_746599803	5 SubmittersRCV000175364 RCV003298220 RCV003231357
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)	SNV Germline	Chr5:177294255	Conflicting classifications of pathogenicity	Condition: not provided NSD1-related disorder Inborn genetic diseases Sotos syndrome Hereditary cancer	Criteria Provided Conflicting Classifications	CA242362	rs_754309202	7 SubmittersRCV000176423 RCV004751336 RCV002362897 RCV003231358 RCV003491929
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)	SNV Germline	Chr5:177211793	Conflicting classifications of pathogenicity	Condition: not provided Weaver syndrome NSD1-related disorder Sotos syndrome	Criteria Provided Conflicting Classifications	CA246224	rs_570278983	5 SubmittersRCV000178986 RCV000363481 RCV003977469 RCV003231360
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 Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA319717	rs_797045825	6 SubmittersRCV002354542 RCV005089984 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.72C>T (p.Ala24=)	SNV Germline	Chr5:177135175	Conflicting classifications of pathogenicity	not specified Condition: not provided Sotos syndrome Inborn genetic diseases NSD1-related disorder	Criteria Provided Conflicting Classifications	CA3576839	rs_147146776	6 SubmittersRCV000238736 RCV000924126 RCV003231419 RCV002379070 RCV003897582
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp)	SNV Germline	Chr5:177280796	Pathogenic/Likely pathogenic	Condition: not provided NSD1-related disorder Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10602921	rs_886041219	6 SubmittersRCV000345429 RCV003909902 RCV003231427
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)	SNV Germline	Chr5:177273743	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10602934	rs_886041218	8 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.3697C>T (p.Arg1233Trp)	SNV Germline	Chr5:177212096	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577480	rs_771467409	4 SubmittersRCV000398185 RCV003231433
NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser)	SNV Germline	Chr5:177212048	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577473	rs_372004424	2 SubmittersRCV003231448 RCV005090573
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)	SNV Germline	Chr5:177244199	Conflicting classifications of pathogenicity	Weaver syndrome Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577615	rs_574641900	5 SubmittersRCV000373929 RCV003231450 RCV001281556
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	Sotos syndrome Condition: not provided Inborn genetic diseases NSD1-related disorder	Criteria Provided Conflicting Classifications	CA3577570	rs_747298351	6 SubmittersRCV003231449 RCV001561303 RCV004955458 RCV004751492
NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe)	SNV Unknown	Chr5:177283796	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA10654757	rs_1057516048	1 SubmittersRCV003231469
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg)	SNV Germline	Chr5:177135137	Conflicting classifications of pathogenicity	not specified Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3576834	rs_143406017	5 SubmittersRCV000419168 RCV003231475 RCV003237840
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile)	SNV Germline	Chr5:177294868	Conflicting classifications of pathogenicity	not specified Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3578145	rs_770120153	3 SubmittersRCV000434491 RCV003231479 RCV005090749
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 Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577452	rs_111638717	5 SubmittersRCV001703760 RCV004955478 RCV003231480
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)	SNV Germline	Chr5:177292121	Pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16611860	rs_1060501493	3 SubmittersRCV003231493 RCV005056017
NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro)	SNV Germline	Chr5:177294986	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3578156	rs_750441093	3 SubmittersRCV005372318 RCV003231489 RCV005090907
NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter)	SNV Unknown	Chr5:177209948	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362310233	rs_1131692328	1 SubmittersRCV003231507
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys)	SNV Germline	Chr5:177210864	Conflicting classifications of pathogenicity	not specified Condition: not provided Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3577272	rs_377684553	5 SubmittersRCV000501442 RCV001591141 RCV003231508 RCV002316441
NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu)	SNV Germline	Chr5:177211666	Conflicting classifications of pathogenicity	not specified Sotos syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA362323263	rs_1406037834	4 SubmittersRCV000499836 RCV003231626 RCV005091105 RCV004649178
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)	SNV Germline	Chr5:177260091	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA362303073	rs_1554200207	2 SubmittersRCV003231510 RCV005091106
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr)	SNV Germline	Chr5:177282499	Pathogenic/Likely pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362315804	rs_587784167	2 SubmittersRCV003231627 RCV005091107
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)	SNV Germline	Chr5:177283797	Pathogenic/Likely pathogenic	Marfanoid habitus and intellectual disability Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362316142	rs_1554204921	3 SubmittersRCV000850418 RCV003231511 RCV005056091
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)	SNV Germline	Chr5:177211614	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3577396	rs_28932180	10 SubmittersRCV001573572 RCV003231515 RCV002316475 RCV005434988
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA3576860	rs_763781326	4 SubmittersRCV002316479 RCV003231520 RCV005091255
NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr)	SNV Unknown	Chr5:177256956	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362354732	rs_1554199368	1 SubmittersRCV003231534
NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter)	SNV Germline	Chr5:177211437	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362321701	rs_1006906224	1 SubmittersRCV003231535
NM_022455.5(NSD1):c.6464-5T>C	SNV Germline	Chr5:177293827	Conflicting classifications of pathogenicity	Condition: not provided NSD1-related disorder Sotos syndrome	Criteria Provided Conflicting Classifications	CA3578018	rs_545039997	4 SubmittersRCV000592254 RCV003945425 RCV003231538
NM_022455.5(NSD1):c.6464-8G>T	SNV Germline	Chr5:177293824	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome NSD1-related disorder	Criteria Provided Conflicting Classifications	CA3578017	rs_577262396	4 SubmittersRCV000594381 RCV003231539 RCV003962716
NM_022455.5(NSD1):c.1260A>G (p.Lys420=)	SNV Germline	Chr5:177209659	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA447724216	rs_1397377820	4 SubmittersRCV000596824 RCV005044896
NM_022455.5(NSD1):c.6788C>T (p.Ser2263Leu)	SNV Germline	Chr5:177294156	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3578042	rs_373571733	2 SubmittersRCV001712656 RCV005044900
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln)	SNV Germline	Chr5:177204141	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577037	rs_769733603	3 SubmittersRCV003231653 RCV004696961
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)	SNV Germline	Chr5:177209877	Conflicting classifications of pathogenicity	Acute myeloid leukemia Sotos syndrome Sotos syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3577099	rs_140583358	6 SubmittersRCV000764592 RCV003231557 RCV002395648 RCV003156267
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys)	SNV Germline	Chr5:177135919	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3576960	rs_144524958	3 SubmittersRCV003231549 RCV005091839
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu)	SNV Germline	Chr5:177209766	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3577076	rs_775730406	3 SubmittersRCV003231550 RCV005091840 RCV005435071
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)	SNV Germline	Chr5:177293915	Pathogenic/Likely pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362323882	rs_1554207287	2 SubmittersRCV003231551 RCV005208717
NM_022455.5(NSD1):c.1873G>T (p.Gly625Ter)	SNV Germline	Chr5:177210272	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362311899	rs_1286331975	1 SubmittersRCV003232063
NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr)	SNV Germline	Chr5:177212048	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA362326709	rs_372004424	3 SubmittersRCV003231570 RCV005056400
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser)	SNV Germline	Chr5:177280700	Likely pathogenic	Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362313104	rs_1554204122	2 SubmittersRCV003232066
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter)	SNV Germline	Chr5:177292023	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362320387	rs_1554206783	1 SubmittersRCV003232068
NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr)	SNV Germline	Chr5:177293981	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362324344	rs_1554207316	1 SubmittersRCV003231572
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)	SNV Germline	Chr5:177294899	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3578150	rs_575229932	3 SubmittersRCV003231573 RCV005091909
NM_022455.5(NSD1):c.4302+1G>A	SNV Germline	Chr5:177239866	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362344326	rs_1562246533	1 SubmittersRCV003232072
NM_022455.5(NSD1):c.1064-5C>A	SNV Germline	Chr5:177204115	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA808077259	rs_961502921	3 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	CA3576932	rs_770522999	6 SubmittersRCV001574544 RCV002312355 RCV003231600
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro)	SNV Germline	Chr5:177294216	Conflicting classifications of pathogenicity	Sotos syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3578051	rs_776592297	3 SubmittersRCV003231601 RCV002312372 RCV005092069
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg)	SNV Germline	Chr5:177211671	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577409	rs_764231926	3 SubmittersRCV000731509 RCV003231610
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu)	SNV Germline	Chr5:177292061	Likely pathogenic	Beckwith-Wiedemann syndrome Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362320595	rs_1562305653	2 SubmittersRCV001053071 RCV003232087
NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter)	SNV Germline	Chr5:177292053	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362320538	rs_1581558015	1 SubmittersRCV003232090
NM_022455.5(NSD1):c.793A>G (p.Ile265Val)	SNV Germline	Chr5:177135896	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3576951	rs_771587260	2 SubmittersRCV003232119 RCV005092428
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter)	SNV Germline	Chr5:177209891	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362309969	rs_1581315609	4 SubmittersRCV001796231 RCV003232110
NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys)	SNV Germline	Chr5:177210478	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577192	rs_766184697	2 SubmittersRCV003232100 RCV005056562
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu)	SNV Germline	Chr5:177294048	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3578027	rs_748597598	7 SubmittersRCV002360911 RCV003232094 RCV004721601
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)	SNV Germline	Chr5:177288923	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362318494	rs_1581548112	1 SubmittersRCV003232133
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His)	SNV Germline	Chr5:177211899	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577446	rs_763399938	3 SubmittersRCV003232152 RCV001726356
NM_022455.5(NSD1):c.3922-1G>C	SNV Unknown	Chr5:177238236	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362339453	rs_1581407682	1 SubmittersRCV003232171
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)	SNV Germline	Chr5:177238423	Pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362341094	rs_1581408152	2 SubmittersRCV003232172 RCV005092971
NM_022455.5(NSD1):c.4193-1G>A	SNV Unknown	Chr5:177239755	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362343049	rs_1581411423	1 SubmittersRCV003232173
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter)	SNV Unknown	Chr5:177280754	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362313455	rs_1581527842	1 SubmittersRCV003232175
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter)	SNV Germline	Chr5:177293921	Pathogenic/Likely pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362323921	rs_1581563059	3 SubmittersRCV003232177 RCV005092972
NM_022455.5(NSD1):c.4766-2A>G	SNV Germline	Chr5:177256949	Pathogenic/Likely pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362354680	rs_1581457332	2 SubmittersRCV005093004 RCV003232179
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter)	SNV Germline	Chr5:177267711	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362306119	rs_1581491984	4 SubmittersRCV001007962 RCV003231612
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)	SNV Germline	Chr5:177211467	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided NSD1-related disorder	Criteria Provided Conflicting Classifications	CA3577369	rs_756022347	3 SubmittersRCV003232193 RCV005093342 RCV004751867
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)	SNV Germline	Chr5:177257032	Pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362355354	rs_1756522180	3 SubmittersRCV003232188 RCV004597951
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)	SNV Germline	Chr5:177267613	Pathogenic/Likely pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362305692	rs_587784140	2 SubmittersRCV003232207 RCV005093371
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala)	SNV Germline	Chr5:177294512	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3578095	rs_765876148	4 SubmittersRCV001546301 RCV003232195 RCV004960397
NM_022455.5(NSD1):c.4193-10T>C	SNV Germline	Chr5:177239746	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577588	rs_774927461	2 SubmittersRCV005036320 RCV005093321
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)	SNV Germline	Chr5:177212091	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3577478	rs_141065357	6 SubmittersRCV001092134 RCV003232215 RCV002348552
NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter)	SNV Unknown	Chr5:177211571	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362322468	rs_1763344725	1 SubmittersRCV003232226
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)	SNV Germline	Chr5:177210293	Pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362312104	rs_1481136060	3 SubmittersRCV003232237 RCV005094095
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=)	SNV Germline	Chr5:177244224	Conflicting classifications of pathogenicity	Sotos syndrome Inborn genetic diseases NSD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3577616	rs_147235302	4 SubmittersRCV003232232 RCV002327489 RCV004751920 RCV005094084
NM_022455.5(NSD1):c.2032A>G (p.Met678Val)	SNV Germline	Chr5:177210431	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome NSD1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA132829744	rs_773904155	6 SubmittersRCV001751466 RCV003232258 RCV004751932 RCV005385002
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=)	SNV Germline	Chr5:177246679	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA447725401	rs_1251583221	2 SubmittersRCV005094136 RCV003232250
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)	SNV Germline	Chr5:177294720	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Sotos syndrome NSD1-related disorder not specified	Criteria Provided Conflicting Classifications	CA3578125	rs_200115665	8 SubmittersRCV001560579 RCV002379871 RCV003232249 RCV004751929 RCV005437031
NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp)	SNV Germline	Chr5:177211208	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577322	rs_780991637	3 SubmittersRCV003232266 RCV005094183
NM_022455.5(NSD1):c.846A>C (p.Pro282=)	SNV Germline	Chr5:177135949	Conflicting classifications of pathogenicity	Intellectual disability NSD1-related disorder Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3576965	rs_377539686	4 SubmittersRCV001251865 RCV003953606 RCV005038016 RCV005094205
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)	SNV Germline	Chr5:177294019	Pathogenic	Sotos syndrome	No Assertion Criteria Provided	CA362324638	rs_1760069281	1 SubmittersRCV003232268
NM_022455.5(NSD1):c.5843G>A (p.Arg1948His)	SNV Germline	Chr5:177280785	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577896	rs_746726463	2 SubmittersRCV003232272
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter)	SNV Unknown	Chr5:177212085	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362327094	rs_1763389239	1 SubmittersRCV003232274
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser)	SNV Germline	Chr5:177260088	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362303059	rs_1756866850	1 SubmittersRCV003232277
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly)	SNV Germline	Chr5:177283790	Likely pathogenic	Sotos syndrome	No Assertion Criteria Provided	CA362316110	rs_587784173	1 SubmittersRCV003232281
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu)	SNV Germline	Chr5:177294015	Likely pathogenic	Sotos syndrome	No Assertion Criteria Provided	CA362324593	rs_1760068807	1 SubmittersRCV003232282
NM_022455.5(NSD1):c.5509+1G>A	SNV Germline	Chr5:177269808	Pathogenic	Sotos syndrome	No Assertion Criteria Provided	CA362307199	rs_1757808917	1 SubmittersRCV003232286
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp)	SNV Germline	Chr5:177209972	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA362310355	rs_1215568879	2 SubmittersRCV003232289 RCV005094359
NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu)	SNV Germline	Chr5:177210200	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577146	rs_780179136	2 SubmittersRCV003232297 RCV005094376
NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro)	SNV Germline	Chr5:177295046	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA362334019	rs_1388409083	2 SubmittersRCV003232296 RCV005057243
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg)	SNV Germline	Chr5:177294699	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA132863038	rs_921266576	3 SubmittersRCV003232304 RCV005094396
NM_022455.5(NSD1):c.4378+1G>T	SNV Germline	Chr5:177244271	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362346865	rs_587784115	1 SubmittersRCV003232308
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)	SNV Germline	Chr5:177238280	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA362339722	rs_750684515	3 SubmittersRCV003232312 RCV005094436
NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp)	SNV Germline	Chr5:177211520	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577381	rs_770541943	2 SubmittersRCV003232323 RCV005094453
NM_022455.5(NSD1):c.4966+6G>A	SNV Germline	Chr5:177257157	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577735	rs_373129093	4 SubmittersRCV001587360 RCV003232319
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln)	SNV Germline	Chr5:177294042	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA362324852	rs_755013078	2 SubmittersRCV003232327 RCV005094460
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter)	SNV Germline	Chr5:177210227	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362311612	rs_1763225156	1 SubmittersRCV003232351
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)	SNV Germline	Chr5:177211044	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362319368	rs_2149845949	4 SubmittersRCV002243175 RCV003232344
NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter)	SNV Germline	Chr5:177269743	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362307046	rs_1757804086	1 SubmittersRCV003232343
NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter)	SNV Germline	Chr5:177211508	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362322052	rs_2149847258	1 SubmittersRCV003232372
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met)	SNV Germline	Chr5:177288867	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA362318065	rs_1759549616	4 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3577367	rs_750354456	5 SubmittersRCV001563446 RCV003232380 RCV004952984
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu)	SNV Germline	Chr5:177280683	Pathogenic	Condition: not provided Sotos syndrome	Criteria Provided Multiple Submitters No Conflicts	CA362312982	rs_587784155	4 SubmittersRCV001579829 RCV005626452
NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val)	SNV Germline	Chr5:177295107	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3578172	rs_755285941	3 SubmittersRCV001665149 RCV003232391
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His)	SNV Germline	Chr5:177280683	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA362312978	rs_587784155	3 SubmittersRCV001771025 RCV003232400
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser)	SNV Germline	Chr5:177211577	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3577390	rs_188847458	5 SubmittersRCV002324194 RCV003232411 RCV003237635 RCV005437349
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met)	SNV Germline	Chr5:177210573	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577209	rs_774810620	3 SubmittersRCV003232414 RCV003237638
NM_022455.5(NSD1):c.4361C>G (p.Ser1454Ter)	SNV Unknown	Chr5:177244253	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362346753	rs_2149894799	1 SubmittersRCV003232417
NM_022455.5(NSD1):c.6258+1G>T	SNV Germline	Chr5:177288926	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362318521	rs_587784185	1 SubmittersRCV003232420
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys)	SNV Germline	Chr5:177283892	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA362316639	rs_2127263139	3 SubmittersRCV003232426 RCV005095214 RCV005453337
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg)	SNV Germline	Chr5:177209978	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA362310377	rs_1488271424	3 SubmittersRCV003232434 RCV005095309
NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg)	SNV Germline	Chr5:177294213	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3578050	rs_539453877	2 SubmittersRCV003232464 RCV005095416
NM_022455.5(NSD1):c.19C>A (p.Leu7Ile)	SNV Germline	Chr5:177135122	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3576832	rs_368345846	3 SubmittersRCV003232443 RCV004809684
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg)	SNV Germline	Chr5:177283902	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362316686	rs_2127263172	1 SubmittersRCV003232493
NM_022455.5(NSD1):c.1363A>G (p.Met455Val)	SNV Germline	Chr5:177209762	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577075	rs_546116718	2 SubmittersRCV003232520 RCV005095528
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg)	SNV Germline	Chr5:177257016	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362355217	rs_2149912373	1 SubmittersRCV003232526
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln)	SNV Germline	Chr5:177293854	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362323364	rs_2127279165	1 SubmittersRCV003232561
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter)	SNV Germline	Chr5:177211392	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362321463	rs_2149846817	1 SubmittersRCV003232563
NM_022455.5(NSD1):c.5303+1G>A	SNV Germline	Chr5:177267719	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362306136	rs_587784141	1 SubmittersRCV003232564
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)	SNV Germline	Chr5:177211710	Conflicting classifications of pathogenicity	Sotos syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3577414	rs_758125212	4 SubmittersRCV003232568 RCV003324011 RCV005058202
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg)	SNV Germline	Chr5:177288875	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362318117	rs_1759551453	1 SubmittersRCV003232570
NM_022455.5(NSD1):c.1064-2A>G	SNV Germline	Chr5:177204118	Pathogenic/Likely pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362304411	rs_2149836062	2 SubmittersRCV003232572 RCV005095979
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser)	SNV Germline	Chr5:177280680	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362312937	rs_2127257170	1 SubmittersRCV003232573
NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg)	SNV Germline	Chr5:177280700	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362313106	rs_1554204122	1 SubmittersRCV003232576
NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)	SNV Germline	Chr5:177295356	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362335395	rs_2127285210	1 SubmittersRCV003232582
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)	SNV Germline	Chr5:177280800	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362313762	rs_2127257578	1 SubmittersRCV003232583
NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser)	SNV Germline	Chr5:177267564	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362305343	rs_1562278357	1 SubmittersRCV003232584
NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter)	SNV Germline	Chr5:177204263	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362305122	rs_1762715257	1 SubmittersRCV003232586
NM_022455.5(NSD1):c.4642-2A>G	SNV Germline	Chr5:177251728	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362351335	rs_2480641681	1 SubmittersRCV003232592
NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys)	SNV Germline	Chr5:177211433	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577365	rs_773655381	2 SubmittersRCV003232779 RCV005098806
NM_022455.5(NSD1):c.4528A>G (p.Ser1510Gly)	SNV Germline	Chr5:177248211	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA132860354	rs_922789487	2 SubmittersRCV003232782 RCV005098807
NM_022455.5(NSD1):c.3425A>G (p.Asn1142Ser)	SNV Germline	Chr5:177211824	Conflicting classifications of pathogenicity	Sotos syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA362324523	rs_1460187564	3 SubmittersRCV003232786 RCV004960941 RCV005098816
NM_022455.5(NSD1):c.3169A>T (p.Asn1057Tyr)	SNV Germline	Chr5:177211568	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA132831078	rs_144937234	2 SubmittersRCV003232809 RCV005098887
NM_022455.5(NSD1):c.1812A>T (p.Arg604=)	SNV Germline	Chr5:177210211	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA132829549	rs_565979456	2 SubmittersRCV005098911 RCV003232819
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)	SNV Germline	Chr5:177210213	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA362311492	rs_1210587929	2 SubmittersRCV003232843 RCV005098972
NM_022455.5(NSD1):c.5218G>A (p.Glu1740Lys)	SNV Germline	Chr5:177267633	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA362305782	rs_1341227088	2 SubmittersRCV005098968 RCV003232841
NM_022455.5(NSD1):c.3181A>T (p.Ser1061Cys)	SNV Germline	Chr5:177211580	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577392	rs_781336574	2 SubmittersRCV005099240 RCV003232848
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)	SNV Germline	Chr5:177288846	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362317919	rs_2480810792	1 SubmittersRCV003232672
NM_022455.5(NSD1):c.3511C>T (p.Arg1171Cys)	SNV Germline	Chr5:177211910	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577450	rs_367790484	3 SubmittersRCV005399006 RCV005098618
NM_022455.5(NSD1):c.7721C>T (p.Pro2574Leu)	SNV Germline	Chr5:177295089	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3578167	rs_150977055	2 SubmittersRCV003232717 RCV005098632
NM_022455.5(NSD1):c.1634C>T (p.Thr545Met)	SNV Germline	Chr5:177210033	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3577123	rs_137993153	2 SubmittersRCV003232750 RCV005098702
NM_022455.5(NSD1):c.7264G>C (p.Glu2422Gln)	SNV Germline	Chr5:177294632	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3578113	rs_765351669	2 SubmittersRCV005098714 RCV003232755
NM_022455.5(NSD1):c.1840G>A (p.Val614Met)	SNV Germline	Chr5:177210239	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA3577152	rs_3733875	3 SubmittersRCV002896391 RCV005059338 RCV005036579
NM_022455.5(NSD1):c.3340G>T (p.Val1114Phe)	SNV Germline	Chr5:177211739	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA362323845	rs_2480464337	2 SubmittersRCV002915218 RCV004725611
NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)	SNV Germline	Chr5:177294908	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362332904	rs_2480837454	1 SubmittersRCV003232861
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)	SNV Unknown	Chr5:177283806	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362316190	rs_1064795588	1 SubmittersRCV003232867
NM_022455.5(NSD1):c.5629C>T (p.Arg1877Cys)	SNV Germline	Chr5:177280571	Conflicting classifications of pathogenicity	See cases Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications	CA362311912	rs_2127256855	3 SubmittersRCV003156180 RCV004961230 RCV005254744
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)	SNV Germline	Chr5:177257104	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362356118	rs_2149912636	1 SubmittersRCV003232874
NM_022455.5(NSD1):c.3922-9T>A	SNV Germline	Chr5:177238228	Conflicting classifications of pathogenicity	Sotos syndrome	Criteria Provided Conflicting Classifications	CA2573332120	rs_2480589655	2 SubmittersRCV003232875
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)	SNV Germline	Chr5:177235928	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362338492	rs_2480581122	1 SubmittersRCV003232876
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)	SNV Germline	Chr5:177257098	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications	CA362356045	rs_2480664753	2 SubmittersRCV003227346 RCV003327305
NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)	SNV Germline	Chr5:177257113	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362356256	rs_2480664913	1 SubmittersRCV003459832
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)	SNV Unknown	Chr5:177280652	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362312658	rs_2480779370	1 SubmittersRCV003333663
NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)	SNV Germline	Chr5:177269657	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362306849	rs_2480730115	1 SubmittersRCV003335785
NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)	SNV Germline	Chr5:177269672	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362306886	rs_2480730192	1 SubmittersRCV003335951
NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)	SNV Germline	Chr5:177267683	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362306029	rs_2480720376	1 SubmittersRCV003340822
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)	SNV Germline	Chr5:177211413	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA362321582	rs_1358404983	3 SubmittersRCV003367311 RCV003492873 RCV005104144
NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)	SNV Germline	Chr5:177238255	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362339564	rs_2480589884	1 SubmittersRCV003444404
NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)	SNV Germline	Chr5:177273778	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362309176	rs_2480749805	1 SubmittersRCV003493299
NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)	SNV Germline	Chr5:177273672	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362308331	rs_2480749099	1 SubmittersRCV003886317
NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)	SNV Germline	Chr5:177210722	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter	CA362315412	rs_1310684026	1 SubmittersRCV003988747
NM_022455.5(NSD1):c.5711C>T (p.Pro1904Leu)	SNV Germline	Chr5:177280653	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004596054
NM_022455.5(NSD1):c.1870A>G (p.Ile624Val)	SNV Germline	Chr5:177210269	Conflicting classifications of pathogenicity	Inborn genetic diseases Sotos syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004650491 RCV005038761
NM_022455.5(NSD1):c.70G>T (p.Ala24Ser)	SNV Germline	Chr5:177135173	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004723656
NM_022455.5(NSD1):c.3796+1G>A	SNV Germline	Chr5:177212196	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004723665
NM_022455.5(NSD1):c.1236+2T>C	SNV Germline	Chr5:177204294	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004788383
NM_022455.5(NSD1):c.5456A>G (p.Asp1819Gly)	SNV Germline	Chr5:177269754	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004788471
NM_022455.5(NSD1):c.5293G>T (p.Gly1765Ter)	SNV Germline	Chr5:177267708	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004785922
NM_022455.5(NSD1):c.5713T>G (p.Cys1905Gly)	SNV Germline	Chr5:177280655	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004795564
NM_022455.5(NSD1):c.6362G>T (p.Cys2121Phe)	SNV Germline	Chr5:177292057	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004795811
NM_022455.5(NSD1):c.6316A>T (p.Lys2106Ter)	SNV Germline	Chr5:177292011	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004819934
NM_022455.5(NSD1):c.4394T>C (p.Phe1465Ser)	SNV Germline	Chr5:177246693	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005043238 RCV005112891
NM_022455.5(NSD1):c.4570G>A (p.Gly1524Arg)	SNV Germline	Chr5:177248253	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035494 RCV005112892
NM_022455.5(NSD1):c.4882A>G (p.Met1628Val)	SNV Germline	Chr5:177257067	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV005043240 RCV005112893 RCV005457964
NM_022455.5(NSD1):c.5038A>G (p.Lys1680Glu)	SNV Germline	Chr5:177260060	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005043241 RCV005112894
NM_022455.5(NSD1):c.5357A>G (p.Lys1786Arg)	SNV Germline	Chr5:177269655	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035498 RCV005112895
NM_022455.5(NSD1):c.6390C>T (p.Leu2130=)	SNV Germline	Chr5:177292085	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035505 RCV005112896
NM_022455.5(NSD1):c.7373T>C (p.Leu2458Pro)	SNV Germline	Chr5:177294741	Conflicting classifications of pathogenicity	Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035516 RCV005457965
NM_022455.5(NSD1):c.7942T>A (p.Ser2648Thr)	SNV Germline	Chr5:177295310	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035523 RCV005105246
NM_022455.5(NSD1):c.8066A>G (p.Lys2689Arg)	SNV Germline	Chr5:177295434	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005043253 RCV005105247
NM_022455.5(NSD1):c.535A>G (p.Ser179Gly)	SNV Germline	Chr5:177135638	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035439 RCV005112879
NM_022455.5(NSD1):c.1472A>G (p.Glu491Gly)	SNV Germline	Chr5:177209871	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035447 RCV005112880
NM_022455.5(NSD1):c.1481G>C (p.Cys494Ser)	SNV Germline	Chr5:177209880	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005112881 RCV005043220
NM_022455.5(NSD1):c.1638G>C (p.Gln546His)	SNV Germline	Chr5:177210037	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035450 RCV005063305
NM_022455.5(NSD1):c.1660A>G (p.Ile554Val)	SNV Germline	Chr5:177210059	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035452 RCV005112882
NM_022455.5(NSD1):c.2395G>C (p.Val799Leu)	SNV Germline	Chr5:177210794	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035464 RCV005112884
NM_022455.5(NSD1):c.2846C>T (p.Pro949Leu)	SNV Germline	Chr5:177211245	Conflicting classifications of pathogenicity	Sotos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005043232 RCV005377693
NM_022455.5(NSD1):c.3499C>T (p.Arg1167Cys)	SNV Germline	Chr5:177211898	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005035479 RCV005112887
NM_022455.5(NSD1):c.3802C>T (p.Arg1268Trp)	SNV Germline	Chr5:177235826	Conflicting classifications of pathogenicity	Sotos syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV005035484 RCV005112889 RCV005448052
NM_022455.5(NSD1):c.6014G>C (p.Arg2005Pro)	SNV Germline	Chr5:177283791	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005054022
NM_022455.5(NSD1):c.5126G>A (p.Trp1709Ter)	SNV Germline	Chr5:177260148	Pathogenic	Sotos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005255811 RCV005054590
NM_022455.5(NSD1):c.6058A>C (p.Asn2020His)	SNV Germline	Chr5:177283835	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005054990
NM_022455.5(NSD1):c.20T>C (p.Leu7Pro)	SNV Germline	Chr5:177135123	Conflicting classifications of pathogenicity	Condition: not provided Sotos syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005114677 RCV005257003
NM_022455.5(NSD1):c.5823T>A (p.Tyr1941Ter)	SNV Germline	Chr5:177280765	Pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005232566
NM_022455.5(NSD1):c.5918G>A (p.Gly1973Asp)	SNV Germline	Chr5:177282490	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005238359
NM_022455.5(NSD1):c.5896G>T (p.Glu1966Ter)	SNV Germline	Chr5:177282468	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005411121
NM_022455.5(NSD1):c.4903T>G (p.Cys1635Gly)	SNV Germline	Chr5:177257088	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005411140
NM_022455.5(NSD1):c.3151G>T (p.Glu1051Ter)	SNV Germline	Chr5:177211550	Likely pathogenic	Sotos syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005604253

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

CA362316806

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/Likely pathogenic

Familial hyperkalemic periodic paralysis
Paramyotonia congenita/hyperkalemic periodic paralysis
Condition: not provided
6 conditions
Hypokalemic periodic paralysis, type 2
Sotos syndrome
SCN4A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117833

rs_80338957

16 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
not specified

Criteria Provided
Conflicting Classifications

CA223639

rs_143585233

8 SubmittersRCV000082099 RCV002313817 RCV003231117 RCV003935067 RCV005055571

NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp)

SNV
Germline

Chr5:177210065

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Sotos syndrome
not specified

Criteria Provided
Conflicting Classifications

CA223642

rs_143571876

5 SubmittersRCV000082102 RCV002390241 RCV003231120 RCV005434631

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
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA223655

rs_142023792

5 SubmittersRCV000082111 RCV003258665 RCV003231127

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
NSD1-related disorder
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA223667

rs_144257298

7 SubmittersRCV000082117 RCV002313819 RCV003945026 RCV003231131

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
NSD1-related disorder
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA223673

rs_150296373

8 SubmittersRCV000723570 RCV002313820 RCV003952525 RCV003231134

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

SNV
Germline

Chr5:177246772

Conflicting classifications of pathogenicity

not specified
Sotos syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA223679

rs_150920473

7 SubmittersRCV000242052 RCV003231137 RCV005089551 RCV002311709

NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)

SNV
Germline

Chr5:177257077

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223685

rs_201857437

8 SubmittersRCV000723729 RCV002336237 RCV003231139 RCV003935069

NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)

SNV
Germline

Chr5:177273682

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223689

rs_140815139

8 SubmittersRCV000723571 RCV002313821 RCV003231141 RCV003964944

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

SNV
Germline

Chr5:177280723

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA149203

rs_61749654

11 SubmittersRCV000082129 RCV002354282 RCV003231142 RCV001795151

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

SNV
Germline

Chr5:177288840

Conflicting classifications of pathogenicity

Condition: not provided
not specified
See cases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA223692

rs_398124380

5 SubmittersRCV000493737 RCV001818251 RCV003156070 RCV003231143

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

SNV
Germline

Chr5:177294944

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223709

rs_373932824

9 SubmittersRCV000082142 RCV000515435 RCV001172456 RCV002390242 RCV003231150

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

SNV
Germline

Chr5:177294965

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA172861

rs_398124386

5 SubmittersRCV000146951 RCV000723554 RCV003231151 RCV003162516

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

SNV
Germline

Chr5:177135245

Conflicting classifications of pathogenicity

Sotos syndrome
NSD1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294796

rs_200735877

3 SubmittersRCV003231169 RCV004751291 RCV005055609

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

SNV
Germline

Chr5:177204205

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA180258

rs_34921128

7 SubmittersRCV000153607 RCV003311695 RCV002316937 RCV003231164

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

SNV
Germline

Chr5:177204280

Conflicting classifications of pathogenicity

Condition: not provided
NSD1-related disorder
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA294786

rs_587784069

4 SubmittersRCV005089684 RCV003895031 RCV003231165

NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter)

SNV
Germline

Chr5:177209661

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA294790

rs_587784071

1 SubmittersRCV003231167

NM_022455.5(NSD1):c.1428G>A (p.Leu476=)

SNV
Germline

Chr5:177209827

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294793

rs_587784072

2 SubmittersRCV003231168 RCV005089685

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

6 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

6 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

7 SubmittersRCV000733891 RCV003231205

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

SNV
Germline

Chr5:177235863

Pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA294854

rs_587784105

4 SubmittersRCV003231217 RCV005089691

NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)

SNV
Germline

Chr5:177238279

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294857

rs_587784107

6 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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA294866

rs_587784110

2 SubmittersRCV003231222 RCV005089695

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
Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA294871

rs_141911573

4 SubmittersRCV002326856 RCV005089696 RCV003231225

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

SNV
Germline

Chr5:177244271

Pathogenic/Likely pathogenic

Sotos syndrome
Acute myeloid leukemia
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294878

rs_587784115

3 SubmittersRCV000760278 RCV003231228

NM_022455.5(NSD1):c.4378+7A>G

SNV
Germline

Chr5:177244277

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294879

rs_587784116

2 SubmittersRCV003231229 RCV005089697

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

7 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

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294892

rs_587784120

2 SubmittersRCV003231234 RCV005089698

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
Condition: not provided
Sotos syndrome
NSD1-related disorder

Criteria Provided
Conflicting Classifications

CA172831

rs_140229717

7 SubmittersRCV000146843 RCV000291870 RCV002316942 RCV003430710 RCV003231239 RCV003917447

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

SNV
Germline

Chr5:177251769

Pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA294897

rs_587784122

2 SubmittersRCV003231240 RCV005620346

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

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294906

rs_587784127

4 SubmittersRCV005089699 RCV003231245

NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser)

SNV
Germline

Chr5:177257029

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA294909

rs_398124378

1 SubmittersRCV003231246

NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser)

SNV
Germline

Chr5:177257040

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA294912

rs_587784128

1 SubmittersRCV003231247

NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly)

SNV
Germline

Chr5:177257040

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA294915

rs_587784128

1 SubmittersRCV003231248

NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe)

SNV
Germline

Chr5:177257092

Conflicting classifications of pathogenicity

Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA294918

rs_587784129

2 SubmittersRCV003231250 RCV002336291

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294921

rs_587784130

4 SubmittersRCV003231251 RCV005089700

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA294939

rs_587784139

3 SubmittersRCV003231260 RCV005089701

NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr)

SNV
Germline

Chr5:177267613

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA294940

rs_587784140

1 SubmittersRCV003231261

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

SNV
Germline

Chr5:177267719

Pathogenic/Likely pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA294943

rs_587784141

3 SubmittersRCV003231262 RCV005208700

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA294957

rs_587784147

2 SubmittersRCV003231268 RCV005089702

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

5 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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA294995

rs_587784162

3 SubmittersRCV003231282 RCV005208701

NM_022455.5(NSD1):c.5893-2A>G

SNV
Germline

Chr5:177282463

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA294998

rs_587784163

1 SubmittersRCV003231283

NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val)

SNV
Germline

Chr5:177282490

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA295001

rs_587784166

1 SubmittersRCV003231286

NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys)

SNV
Germline

Chr5:177282499

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA295004

rs_587784167

1 SubmittersRCV003231287

NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter)

SNV
Germline

Chr5:177282510

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA295007

rs_587784168

1 SubmittersRCV003231288

NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)

SNV
Germline

Chr5:177282523

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295010

rs_587784169

5 SubmittersRCV000405920 RCV003231289

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

SNV
Germline

Chr5:177282537

Pathogenic

Sotos syndrome
Acute myeloid leukemia
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295012

rs_587784170

3 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

Beckwith-Wiedemann syndrome
Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295024

rs_587784174

5 SubmittersRCV000793328 RCV000286929 RCV003231294

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

SNV
Germline

Chr5:177283820

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295026

rs_587784175

3 SubmittersRCV003231295 RCV005089704

NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)

SNV
Germline

Chr5:177283826

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295029

rs_587784176

7 SubmittersRCV000724072 RCV003231296

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

SNV
Germline

Chr5:177283827

Pathogenic/Likely pathogenic

9 conditions
7 conditions
Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295031

rs_587784177

9 SubmittersRCV000414978 RCV000415049 RCV000290468 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

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295042

rs_587784181

3 SubmittersRCV003231301 RCV004760397

NM_022455.5(NSD1):c.6152-14G>A

SNV
Germline

Chr5:177288805

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA234443

rs_587784182

8 SubmittersRCV000153612 RCV003231302 RCV004955289

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

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA295059

rs_587784190

7 SubmittersRCV000342078 RCV002512583 RCV003231311

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

SNV
Germline

Chr5:177292051

Pathogenic/Likely pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA295062

rs_587784191

3 SubmittersRCV003231312 RCV005089705

NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val)

SNV
Germline

Chr5:177292072

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA295066

rs_587784193

1 SubmittersRCV003231314

NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)

SNV
Germline

Chr5:177292108

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA295069

rs_587784195

3 SubmittersRCV005089706 RCV003231315

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

7 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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA295099

rs_587784208

3 SubmittersRCV003231328 RCV005055612

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

SNV
Germline

Chr5:177293927

Pathogenic

Condition: not provided
Neurodevelopmental disorder
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA295102

rs_587784209

5 SubmittersRCV001775633 RCV003389045 RCV003231329

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA172852

rs_587784216

5 SubmittersRCV000146947 RCV003231336 RCV005089709 RCV004955290

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

SNV
Germline

Chr5:177295291

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA295123

rs_147033795

3 SubmittersRCV003221821 RCV003231340

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.2058T>A (p.Tyr686Ter)

SNV
Germline

Chr5:177210457

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Single Submitter

CA236245

rs_786205576

1 SubmittersRCV000171389 RCV004020045

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

SNV
Germline

Chr5:177269630

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA302771

rs_794727176

9 SubmittersRCV002273973 RCV000724287 RCV000763136 RCV003231356

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

SNV
Germline

Chr5:177280577

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA241097

rs_746599803

5 SubmittersRCV000175364 RCV003298220 RCV003231357

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

SNV
Germline

Chr5:177294255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242362

rs_754309202

7 SubmittersRCV000176423 RCV004751336 RCV002362897 RCV003231358 RCV003491929

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

SNV
Germline

Chr5:177211793

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246224

rs_570278983

5 SubmittersRCV000178986 RCV000363481 RCV003977469 RCV003231360

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
Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA319717

rs_797045825

6 SubmittersRCV002354542 RCV005089984 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.72C>T (p.Ala24=)

SNV
Germline

Chr5:177135175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3576839

rs_147146776

6 SubmittersRCV000238736 RCV000924126 RCV003231419 RCV002379070 RCV003897582

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

SNV
Germline

Chr5:177280796

Pathogenic/Likely pathogenic

Condition: not provided
NSD1-related disorder
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602921

rs_886041219

6 SubmittersRCV000345429 RCV003909902 RCV003231427

NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)

SNV
Germline

Chr5:177273743

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602934

rs_886041218

8 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.3697C>T (p.Arg1233Trp)

SNV
Germline

Chr5:177212096

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577480

rs_771467409

4 SubmittersRCV000398185 RCV003231433

NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser)

SNV
Germline

Chr5:177212048

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577473

rs_372004424

2 SubmittersRCV003231448 RCV005090573

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

SNV
Germline

Chr5:177244199

Conflicting classifications of pathogenicity

Weaver syndrome
Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577615

rs_574641900

5 SubmittersRCV000373929 RCV003231450 RCV001281556

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

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

Criteria Provided
Conflicting Classifications

CA3577570

rs_747298351

6 SubmittersRCV003231449 RCV001561303 RCV004955458 RCV004751492

NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe)

SNV
Unknown

Chr5:177283796

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA10654757

rs_1057516048

1 SubmittersRCV003231469

NM_022455.5(NSD1):c.34T>C (p.Cys12Arg)

SNV
Germline

Chr5:177135137

Conflicting classifications of pathogenicity

not specified
Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3576834

rs_143406017

5 SubmittersRCV000419168 RCV003231475 RCV003237840

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

SNV
Germline

Chr5:177294868

Conflicting classifications of pathogenicity

not specified
Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3578145

rs_770120153

3 SubmittersRCV000434491 RCV003231479 RCV005090749

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
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577452

rs_111638717

5 SubmittersRCV001703760 RCV004955478 RCV003231480

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

SNV
Germline

Chr5:177292121

Pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16611860

rs_1060501493

3 SubmittersRCV003231493 RCV005056017

NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro)

SNV
Germline

Chr5:177294986

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3578156

rs_750441093

3 SubmittersRCV005372318 RCV003231489 RCV005090907

NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter)

SNV
Unknown

Chr5:177209948

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362310233

rs_1131692328

1 SubmittersRCV003231507

NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys)

SNV
Germline

Chr5:177210864

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3577272

rs_377684553

5 SubmittersRCV000501442 RCV001591141 RCV003231508 RCV002316441

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

SNV
Germline

Chr5:177211666

Conflicting classifications of pathogenicity

not specified
Sotos syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA362323263

rs_1406037834

4 SubmittersRCV000499836 RCV003231626 RCV005091105 RCV004649178

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

SNV
Germline

Chr5:177260091

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362303073

rs_1554200207

2 SubmittersRCV003231510 RCV005091106

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

SNV
Germline

Chr5:177282499

Pathogenic/Likely pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362315804

rs_587784167

2 SubmittersRCV003231627 RCV005091107

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

SNV
Germline

Chr5:177283797

Pathogenic/Likely pathogenic

Marfanoid habitus and intellectual disability
Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362316142

rs_1554204921

3 SubmittersRCV000850418 RCV003231511 RCV005056091

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

SNV
Germline

Chr5:177211614

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3577396

rs_28932180

10 SubmittersRCV001573572 RCV003231515 RCV002316475 RCV005434988

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3576860

rs_763781326

4 SubmittersRCV002316479 RCV003231520 RCV005091255

NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr)

SNV
Unknown

Chr5:177256956

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362354732

rs_1554199368

1 SubmittersRCV003231534

NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter)

SNV
Germline

Chr5:177211437

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362321701

rs_1006906224

1 SubmittersRCV003231535

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

SNV
Germline

Chr5:177293827

Conflicting classifications of pathogenicity

Condition: not provided
NSD1-related disorder
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3578018

rs_545039997

4 SubmittersRCV000592254 RCV003945425 RCV003231538

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

SNV
Germline

Chr5:177293824

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome
NSD1-related disorder

Criteria Provided
Conflicting Classifications

CA3578017

rs_577262396

4 SubmittersRCV000594381 RCV003231539 RCV003962716

NM_022455.5(NSD1):c.1260A>G (p.Lys420=)

SNV
Germline

Chr5:177209659

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA447724216

rs_1397377820

4 SubmittersRCV000596824 RCV005044896

NM_022455.5(NSD1):c.6788C>T (p.Ser2263Leu)

SNV
Germline

Chr5:177294156

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3578042

rs_373571733

2 SubmittersRCV001712656 RCV005044900

NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln)

SNV
Germline

Chr5:177204141

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577037

rs_769733603

3 SubmittersRCV003231653 RCV004696961

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

SNV
Germline

Chr5:177209877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3577099

rs_140583358

6 SubmittersRCV000764592 RCV003231557 RCV002395648 RCV003156267

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

SNV
Germline

Chr5:177135919

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3576960

rs_144524958

3 SubmittersRCV003231549 RCV005091839

NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu)

SNV
Germline

Chr5:177209766

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3577076

rs_775730406

3 SubmittersRCV003231550 RCV005091840 RCV005435071

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

SNV
Germline

Chr5:177293915

Pathogenic/Likely pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362323882

rs_1554207287

2 SubmittersRCV003231551 RCV005208717

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

SNV
Germline

Chr5:177210272

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362311899

rs_1286331975

1 SubmittersRCV003232063

NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr)

SNV
Germline

Chr5:177212048

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362326709

rs_372004424

3 SubmittersRCV003231570 RCV005056400

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

SNV
Germline

Chr5:177280700

Likely pathogenic

Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362313104

rs_1554204122

2 SubmittersRCV003232066

NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter)

SNV
Germline

Chr5:177292023

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362320387

rs_1554206783

1 SubmittersRCV003232068

NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr)

SNV
Germline

Chr5:177293981

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362324344

rs_1554207316

1 SubmittersRCV003231572

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

SNV
Germline

Chr5:177294899

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3578150

rs_575229932

3 SubmittersRCV003231573 RCV005091909

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

SNV
Germline

Chr5:177239866

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362344326

rs_1562246533

1 SubmittersRCV003232072

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

SNV
Germline

Chr5:177204115

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA808077259

rs_961502921

3 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

CA3576932

rs_770522999

6 SubmittersRCV001574544 RCV002312355 RCV003231600

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

SNV
Germline

Chr5:177294216

Conflicting classifications of pathogenicity

Sotos syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3578051

rs_776592297

3 SubmittersRCV003231601 RCV002312372 RCV005092069

NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg)

SNV
Germline

Chr5:177211671

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577409

rs_764231926

3 SubmittersRCV000731509 RCV003231610

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

SNV
Germline

Chr5:177292061

Likely pathogenic

Beckwith-Wiedemann syndrome
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362320595

rs_1562305653

2 SubmittersRCV001053071 RCV003232087

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

SNV
Germline

Chr5:177292053

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362320538

rs_1581558015

1 SubmittersRCV003232090

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

SNV
Germline

Chr5:177135896

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3576951

rs_771587260

2 SubmittersRCV003232119 RCV005092428

NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter)

SNV
Germline

Chr5:177209891

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362309969

rs_1581315609

4 SubmittersRCV001796231 RCV003232110

NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys)

SNV
Germline

Chr5:177210478

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577192

rs_766184697

2 SubmittersRCV003232100 RCV005056562

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

SNV
Germline

Chr5:177294048

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3578027

rs_748597598

7 SubmittersRCV002360911 RCV003232094 RCV004721601

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

SNV
Germline

Chr5:177288923

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362318494

rs_1581548112

1 SubmittersRCV003232133

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

SNV
Germline

Chr5:177211899

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577446

rs_763399938

3 SubmittersRCV003232152 RCV001726356

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

SNV
Unknown

Chr5:177238236

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362339453

rs_1581407682

1 SubmittersRCV003232171

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

SNV
Germline

Chr5:177238423

Pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362341094

rs_1581408152

2 SubmittersRCV003232172 RCV005092971

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

SNV
Unknown

Chr5:177239755

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362343049

rs_1581411423

1 SubmittersRCV003232173

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

SNV
Unknown

Chr5:177280754

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362313455

rs_1581527842

1 SubmittersRCV003232175

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

SNV
Germline

Chr5:177293921

Pathogenic/Likely pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362323921

rs_1581563059

3 SubmittersRCV003232177 RCV005092972

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

SNV
Germline

Chr5:177256949

Pathogenic/Likely pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362354680

rs_1581457332

2 SubmittersRCV005093004 RCV003232179

NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter)

SNV
Germline

Chr5:177267711

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362306119

rs_1581491984

4 SubmittersRCV001007962 RCV003231612

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

SNV
Germline

Chr5:177211467

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided
NSD1-related disorder

Criteria Provided
Conflicting Classifications

CA3577369

rs_756022347

3 SubmittersRCV003232193 RCV005093342 RCV004751867

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

SNV
Germline

Chr5:177257032

Pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362355354

rs_1756522180

3 SubmittersRCV003232188 RCV004597951

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

SNV
Germline

Chr5:177267613

Pathogenic/Likely pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362305692

rs_587784140

2 SubmittersRCV003232207 RCV005093371

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

SNV
Germline

Chr5:177294512

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3578095

rs_765876148

4 SubmittersRCV001546301 RCV003232195 RCV004960397

NM_022455.5(NSD1):c.4193-10T>C

SNV
Germline

Chr5:177239746

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577588

rs_774927461

2 SubmittersRCV005036320 RCV005093321

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

SNV
Germline

Chr5:177212091

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3577478

rs_141065357

6 SubmittersRCV001092134 RCV003232215 RCV002348552

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

SNV
Unknown

Chr5:177211571

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362322468

rs_1763344725

1 SubmittersRCV003232226

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

SNV
Germline

Chr5:177210293

Pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362312104

rs_1481136060

3 SubmittersRCV003232237 RCV005094095

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

SNV
Germline

Chr5:177244224

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3577616

rs_147235302

4 SubmittersRCV003232232 RCV002327489 RCV004751920 RCV005094084

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

SNV
Germline

Chr5:177210431

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA132829744

rs_773904155

6 SubmittersRCV001751466 RCV003232258 RCV004751932 RCV005385002

NM_022455.5(NSD1):c.4380C>T (p.Gly1460=)

SNV
Germline

Chr5:177246679

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA447725401

rs_1251583221

2 SubmittersRCV005094136 RCV003232250

NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)

SNV
Germline

Chr5:177294720

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3578125

rs_200115665

8 SubmittersRCV001560579 RCV002379871 RCV003232249 RCV004751929 RCV005437031

NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp)

SNV
Germline

Chr5:177211208

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577322

rs_780991637

3 SubmittersRCV003232266 RCV005094183

NM_022455.5(NSD1):c.846A>C (p.Pro282=)

SNV
Germline

Chr5:177135949

Conflicting classifications of pathogenicity

Intellectual disability
NSD1-related disorder
Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3576965

rs_377539686

4 SubmittersRCV001251865 RCV003953606 RCV005038016 RCV005094205

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

SNV
Germline

Chr5:177294019

Pathogenic

Sotos syndrome

No Assertion Criteria Provided

CA362324638

rs_1760069281

1 SubmittersRCV003232268

NM_022455.5(NSD1):c.5843G>A (p.Arg1948His)

SNV
Germline

Chr5:177280785

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577896

rs_746726463

2 SubmittersRCV003232272

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

SNV
Unknown

Chr5:177212085

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362327094

rs_1763389239

1 SubmittersRCV003232274

NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser)

SNV
Germline

Chr5:177260088

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362303059

rs_1756866850

1 SubmittersRCV003232277

NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly)

SNV
Germline

Chr5:177283790

Likely pathogenic

Sotos syndrome

No Assertion Criteria Provided

CA362316110

rs_587784173

1 SubmittersRCV003232281

NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu)

SNV
Germline

Chr5:177294015

Likely pathogenic

Sotos syndrome

No Assertion Criteria Provided

CA362324593

rs_1760068807

1 SubmittersRCV003232282

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

SNV
Germline

Chr5:177269808

Pathogenic

Sotos syndrome

No Assertion Criteria Provided

CA362307199

rs_1757808917

1 SubmittersRCV003232286

NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp)

SNV
Germline

Chr5:177209972

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362310355

rs_1215568879

2 SubmittersRCV003232289 RCV005094359

NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu)

SNV
Germline

Chr5:177210200

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577146

rs_780179136

2 SubmittersRCV003232297 RCV005094376

NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro)

SNV
Germline

Chr5:177295046

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362334019

rs_1388409083

2 SubmittersRCV003232296 RCV005057243

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

SNV
Germline

Chr5:177294699

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132863038

rs_921266576

3 SubmittersRCV003232304 RCV005094396

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

SNV
Germline

Chr5:177244271

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362346865

rs_587784115

1 SubmittersRCV003232308

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

SNV
Germline

Chr5:177238280

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362339722

rs_750684515

3 SubmittersRCV003232312 RCV005094436

NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp)

SNV
Germline

Chr5:177211520

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577381

rs_770541943

2 SubmittersRCV003232323 RCV005094453

NM_022455.5(NSD1):c.4966+6G>A

SNV
Germline

Chr5:177257157

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577735

rs_373129093

4 SubmittersRCV001587360 RCV003232319

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

SNV
Germline

Chr5:177294042

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362324852

rs_755013078

2 SubmittersRCV003232327 RCV005094460

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

SNV
Germline

Chr5:177210227

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362311612

rs_1763225156

1 SubmittersRCV003232351

NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)

SNV
Germline

Chr5:177211044

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362319368

rs_2149845949

4 SubmittersRCV002243175 RCV003232344

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

SNV
Germline

Chr5:177269743

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362307046

rs_1757804086

1 SubmittersRCV003232343

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

SNV
Germline

Chr5:177211508

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362322052

rs_2149847258

1 SubmittersRCV003232372

NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met)

SNV
Germline

Chr5:177288867

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA362318065

rs_1759549616

4 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3577367

rs_750354456

5 SubmittersRCV001563446 RCV003232380 RCV004952984

NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu)

SNV
Germline

Chr5:177280683

Pathogenic

Condition: not provided
Sotos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA362312982

rs_587784155

4 SubmittersRCV001579829 RCV005626452

NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val)

SNV
Germline

Chr5:177295107

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3578172

rs_755285941

3 SubmittersRCV001665149 RCV003232391

NM_022455.5(NSD1):c.5741G>A (p.Arg1914His)

SNV
Germline

Chr5:177280683

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA362312978

rs_587784155

3 SubmittersRCV001771025 RCV003232400

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

SNV
Germline

Chr5:177211577

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3577390

rs_188847458

5 SubmittersRCV002324194 RCV003232411 RCV003237635 RCV005437349

NM_022455.5(NSD1):c.2174C>T (p.Thr725Met)

SNV
Germline

Chr5:177210573

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577209

rs_774810620

3 SubmittersRCV003232414 RCV003237638

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

SNV
Unknown

Chr5:177244253

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362346753

rs_2149894799

1 SubmittersRCV003232417

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

SNV
Germline

Chr5:177288926

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362318521

rs_587784185

1 SubmittersRCV003232420

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

SNV
Germline

Chr5:177283892

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA362316639

rs_2127263139

3 SubmittersRCV003232426 RCV005095214 RCV005453337

NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg)

SNV
Germline

Chr5:177209978

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362310377

rs_1488271424

3 SubmittersRCV003232434 RCV005095309

NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg)

SNV
Germline

Chr5:177294213

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3578050

rs_539453877

2 SubmittersRCV003232464 RCV005095416

NM_022455.5(NSD1):c.19C>A (p.Leu7Ile)

SNV
Germline

Chr5:177135122

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3576832

rs_368345846

3 SubmittersRCV003232443 RCV004809684

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

SNV
Germline

Chr5:177283902

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362316686

rs_2127263172

1 SubmittersRCV003232493

NM_022455.5(NSD1):c.1363A>G (p.Met455Val)

SNV
Germline

Chr5:177209762

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577075

rs_546116718

2 SubmittersRCV003232520 RCV005095528

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

SNV
Germline

Chr5:177257016

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362355217

rs_2149912373

1 SubmittersRCV003232526

NM_022455.5(NSD1):c.6486T>G (p.His2162Gln)

SNV
Germline

Chr5:177293854

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362323364

rs_2127279165

1 SubmittersRCV003232561

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

SNV
Germline

Chr5:177211392

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362321463

rs_2149846817

1 SubmittersRCV003232563

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

SNV
Germline

Chr5:177267719

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362306136

rs_587784141

1 SubmittersRCV003232564

NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)

SNV
Germline

Chr5:177211710

Conflicting classifications of pathogenicity

Sotos syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577414

rs_758125212

4 SubmittersRCV003232568 RCV003324011 RCV005058202

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

SNV
Germline

Chr5:177288875

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362318117

rs_1759551453

1 SubmittersRCV003232570

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

SNV
Germline

Chr5:177204118

Pathogenic/Likely pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362304411

rs_2149836062

2 SubmittersRCV003232572 RCV005095979

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

SNV
Germline

Chr5:177280680

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362312937

rs_2127257170

1 SubmittersRCV003232573

NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg)

SNV
Germline

Chr5:177280700

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362313106

rs_1554204122

1 SubmittersRCV003232576

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

SNV
Germline

Chr5:177295356

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362335395

rs_2127285210

1 SubmittersRCV003232582

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

SNV
Germline

Chr5:177280800

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362313762

rs_2127257578

1 SubmittersRCV003232583

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

SNV
Germline

Chr5:177267564

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362305343

rs_1562278357

1 SubmittersRCV003232584

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

SNV
Germline

Chr5:177204263

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362305122

rs_1762715257

1 SubmittersRCV003232586

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

SNV
Germline

Chr5:177251728

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362351335

rs_2480641681

1 SubmittersRCV003232592

NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys)

SNV
Germline

Chr5:177211433

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577365

rs_773655381

2 SubmittersRCV003232779 RCV005098806

NM_022455.5(NSD1):c.4528A>G (p.Ser1510Gly)

SNV
Germline

Chr5:177248211

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132860354

rs_922789487

2 SubmittersRCV003232782 RCV005098807

NM_022455.5(NSD1):c.3425A>G (p.Asn1142Ser)

SNV
Germline

Chr5:177211824

Conflicting classifications of pathogenicity

Sotos syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362324523

rs_1460187564

3 SubmittersRCV003232786 RCV004960941 RCV005098816

NM_022455.5(NSD1):c.3169A>T (p.Asn1057Tyr)

SNV
Germline

Chr5:177211568

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132831078

rs_144937234

2 SubmittersRCV003232809 RCV005098887

NM_022455.5(NSD1):c.1812A>T (p.Arg604=)

SNV
Germline

Chr5:177210211

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA132829549

rs_565979456

2 SubmittersRCV005098911 RCV003232819

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

SNV
Germline

Chr5:177210213

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362311492

rs_1210587929

2 SubmittersRCV003232843 RCV005098972

NM_022455.5(NSD1):c.5218G>A (p.Glu1740Lys)

SNV
Germline

Chr5:177267633

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA362305782

rs_1341227088

2 SubmittersRCV005098968 RCV003232841

NM_022455.5(NSD1):c.3181A>T (p.Ser1061Cys)

SNV
Germline

Chr5:177211580

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577392

rs_781336574

2 SubmittersRCV005099240 RCV003232848

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

SNV
Germline

Chr5:177288846

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362317919

rs_2480810792

1 SubmittersRCV003232672

NM_022455.5(NSD1):c.3511C>T (p.Arg1171Cys)

SNV
Germline

Chr5:177211910

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577450

rs_367790484

3 SubmittersRCV005399006 RCV005098618

NM_022455.5(NSD1):c.7721C>T (p.Pro2574Leu)

SNV
Germline

Chr5:177295089

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3578167

rs_150977055

2 SubmittersRCV003232717 RCV005098632

NM_022455.5(NSD1):c.1634C>T (p.Thr545Met)

SNV
Germline

Chr5:177210033

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3577123

rs_137993153

2 SubmittersRCV003232750 RCV005098702

NM_022455.5(NSD1):c.7264G>C (p.Glu2422Gln)

SNV
Germline

Chr5:177294632

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3578113

rs_765351669

2 SubmittersRCV005098714 RCV003232755

NM_022455.5(NSD1):c.1840G>A (p.Val614Met)

SNV
Germline

Chr5:177210239

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA3577152

rs_3733875

3 SubmittersRCV002896391 RCV005059338 RCV005036579

NM_022455.5(NSD1):c.3340G>T (p.Val1114Phe)

SNV
Germline

Chr5:177211739

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA362323845

rs_2480464337

2 SubmittersRCV002915218 RCV004725611

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

SNV
Germline

Chr5:177294908

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362332904

rs_2480837454

1 SubmittersRCV003232861

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

SNV
Unknown

Chr5:177283806

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362316190

rs_1064795588

1 SubmittersRCV003232867

NM_022455.5(NSD1):c.5629C>T (p.Arg1877Cys)

SNV
Germline

Chr5:177280571

Conflicting classifications of pathogenicity

See cases
Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA362311912

rs_2127256855

3 SubmittersRCV003156180 RCV004961230 RCV005254744

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

SNV
Germline

Chr5:177257104

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362356118

rs_2149912636

1 SubmittersRCV003232874

NM_022455.5(NSD1):c.3922-9T>A

SNV
Germline

Chr5:177238228

Conflicting classifications of pathogenicity

Sotos syndrome

Criteria Provided
Conflicting Classifications

CA2573332120

rs_2480589655

2 SubmittersRCV003232875

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

SNV
Germline

Chr5:177235928

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362338492

rs_2480581122

1 SubmittersRCV003232876

NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)

SNV
Germline

Chr5:177257098

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

CA362356045

rs_2480664753

2 SubmittersRCV003227346 RCV003327305

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

SNV
Germline

Chr5:177257113

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362356256

rs_2480664913

1 SubmittersRCV003459832

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

SNV
Unknown

Chr5:177280652

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362312658

rs_2480779370

1 SubmittersRCV003333663

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

SNV
Germline

Chr5:177269657

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362306849

rs_2480730115

1 SubmittersRCV003335785

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

SNV
Germline

Chr5:177269672

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362306886

rs_2480730192

1 SubmittersRCV003335951

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

SNV
Germline

Chr5:177267683

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362306029

rs_2480720376

1 SubmittersRCV003340822

NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)

SNV
Germline

Chr5:177211413

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362321582

rs_1358404983

3 SubmittersRCV003367311 RCV003492873 RCV005104144

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

SNV
Germline

Chr5:177238255

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362339564

rs_2480589884

1 SubmittersRCV003444404

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

SNV
Germline

Chr5:177273778

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362309176

rs_2480749805

1 SubmittersRCV003493299

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

SNV
Germline

Chr5:177273672

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362308331

rs_2480749099

1 SubmittersRCV003886317

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

SNV
Germline

Chr5:177210722

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

CA362315412

rs_1310684026

1 SubmittersRCV003988747

NM_022455.5(NSD1):c.5711C>T (p.Pro1904Leu)

SNV
Germline

Chr5:177280653

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004596054

NM_022455.5(NSD1):c.1870A>G (p.Ile624Val)

SNV
Germline

Chr5:177210269

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sotos syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004650491 RCV005038761

NM_022455.5(NSD1):c.70G>T (p.Ala24Ser)

SNV
Germline

Chr5:177135173

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004723656

NM_022455.5(NSD1):c.3796+1G>A

SNV
Germline

Chr5:177212196

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004723665

NM_022455.5(NSD1):c.1236+2T>C

SNV
Germline

Chr5:177204294

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004788383

NM_022455.5(NSD1):c.5456A>G (p.Asp1819Gly)

SNV
Germline

Chr5:177269754

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004788471

NM_022455.5(NSD1):c.5293G>T (p.Gly1765Ter)

SNV
Germline

Chr5:177267708

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004785922

NM_022455.5(NSD1):c.5713T>G (p.Cys1905Gly)

SNV
Germline

Chr5:177280655

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004795564

NM_022455.5(NSD1):c.6362G>T (p.Cys2121Phe)

SNV
Germline

Chr5:177292057

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004795811

NM_022455.5(NSD1):c.6316A>T (p.Lys2106Ter)

SNV
Germline

Chr5:177292011

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004819934

NM_022455.5(NSD1):c.4394T>C (p.Phe1465Ser)

SNV
Germline

Chr5:177246693

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043238 RCV005112891

NM_022455.5(NSD1):c.4570G>A (p.Gly1524Arg)

SNV
Germline

Chr5:177248253

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035494 RCV005112892

NM_022455.5(NSD1):c.4882A>G (p.Met1628Val)

SNV
Germline

Chr5:177257067

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005043240 RCV005112893 RCV005457964

NM_022455.5(NSD1):c.5038A>G (p.Lys1680Glu)

SNV
Germline

Chr5:177260060

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043241 RCV005112894

NM_022455.5(NSD1):c.5357A>G (p.Lys1786Arg)

SNV
Germline

Chr5:177269655

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035498 RCV005112895

NM_022455.5(NSD1):c.6390C>T (p.Leu2130=)

SNV
Germline

Chr5:177292085

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035505 RCV005112896

NM_022455.5(NSD1):c.7373T>C (p.Leu2458Pro)

SNV
Germline

Chr5:177294741

Conflicting classifications of pathogenicity

Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035516 RCV005457965

NM_022455.5(NSD1):c.7942T>A (p.Ser2648Thr)

SNV
Germline

Chr5:177295310

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035523 RCV005105246

NM_022455.5(NSD1):c.8066A>G (p.Lys2689Arg)

SNV
Germline

Chr5:177295434

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043253 RCV005105247

NM_022455.5(NSD1):c.535A>G (p.Ser179Gly)

SNV
Germline

Chr5:177135638

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035439 RCV005112879

NM_022455.5(NSD1):c.1472A>G (p.Glu491Gly)

SNV
Germline

Chr5:177209871

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035447 RCV005112880

NM_022455.5(NSD1):c.1481G>C (p.Cys494Ser)

SNV
Germline

Chr5:177209880

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005112881 RCV005043220

NM_022455.5(NSD1):c.1638G>C (p.Gln546His)

SNV
Germline

Chr5:177210037

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035450 RCV005063305

NM_022455.5(NSD1):c.1660A>G (p.Ile554Val)

SNV
Germline

Chr5:177210059

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035452 RCV005112882

NM_022455.5(NSD1):c.2395G>C (p.Val799Leu)

SNV
Germline

Chr5:177210794

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035464 RCV005112884

NM_022455.5(NSD1):c.2846C>T (p.Pro949Leu)

SNV
Germline

Chr5:177211245

Conflicting classifications of pathogenicity

Sotos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043232 RCV005377693

NM_022455.5(NSD1):c.3499C>T (p.Arg1167Cys)

SNV
Germline

Chr5:177211898

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005035479 RCV005112887

NM_022455.5(NSD1):c.3802C>T (p.Arg1268Trp)

SNV
Germline

Chr5:177235826

Conflicting classifications of pathogenicity

Sotos syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005035484 RCV005112889 RCV005448052

NM_022455.5(NSD1):c.6014G>C (p.Arg2005Pro)

SNV
Germline

Chr5:177283791

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005054022

NM_022455.5(NSD1):c.5126G>A (p.Trp1709Ter)

SNV
Germline

Chr5:177260148

Pathogenic

Sotos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005255811 RCV005054590

NM_022455.5(NSD1):c.6058A>C (p.Asn2020His)

SNV
Germline

Chr5:177283835

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005054990

NM_022455.5(NSD1):c.20T>C (p.Leu7Pro)

SNV
Germline

Chr5:177135123

Conflicting classifications of pathogenicity

Condition: not provided
Sotos syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005114677 RCV005257003

NM_022455.5(NSD1):c.5823T>A (p.Tyr1941Ter)

SNV
Germline

Chr5:177280765

Pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005232566

NM_022455.5(NSD1):c.5918G>A (p.Gly1973Asp)

SNV
Germline

Chr5:177282490

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005238359

NM_022455.5(NSD1):c.5896G>T (p.Glu1966Ter)

SNV
Germline

Chr5:177282468

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005411121

NM_022455.5(NSD1):c.4903T>G (p.Cys1635Gly)

SNV
Germline

Chr5:177257088

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005411140

NM_022455.5(NSD1):c.3151G>T (p.Glu1051Ter)

SNV
Germline

Chr5:177211550

Likely pathogenic

Sotos syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005604253