| - GRCh37:
- Chr5:176721607-176721608
- GRCh38:
- Chr5:177294606-177294607
| NSD1 | L2040fs, L2123fs, L2160fs, L2163fs, L2274fs, L2414fs | Sotos syndrome 1 | Likely pathogenic
(Dec 24, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr5:176710807
- GRCh38:
- Chr5:177283806
| NSD1 | G1719V, G1741V, G1756V, G1759V, G1870V, G2010V | Sotos syndrome 1 | Likely pathogenic
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637243
- GRCh38:
- Chr5:177210242
| NSD1 | C324G, C346G, C364G, C475G, C615G | Sotos syndrome 1 | Uncertain significance
(Dec 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176722044
- GRCh38:
- Chr5:177295043
| NSD1 | A2185T, A2268T, A2290T, A2305T, A2308T, A2419T, A2559T | Sotos syndrome 1 | Uncertain significance
(Mar 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176636649
- GRCh38:
- Chr5:177209648
| NSD1 | I126F, I148F, I166F, I277F, I417F | Sotos syndrome 1 | Uncertain significance
(May 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637160
- GRCh38:
- Chr5:177210159
| NSD1 | G296A, G318A, G336A, G447A, G587A | Sotos syndrome 1 | Uncertain significance
(Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721102
- GRCh38:
- Chr5:177294101
| NSD1 | A1871T, A1954T, A1976T, A1991T, A1994T, A2105T, A2245T | Sotos syndrome 1 | Uncertain significance
(Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721909
- GRCh38:
- Chr5:177294908
| NSD1 | Q2140*, Q2223*, Q2245*, Q2260*, Q2263*, Q2374*, Q2514* | Sotos syndrome 1 | Likely pathogenic
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637122-176637123
- GRCh38:
- Chr5:177210121-177210122
| NSD1 | N307fs, N576fs | Sotos syndrome 1 | Likely pathogenic
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176618865-177036696
| B4GALT7, DBN1, DDX41, DOK3, F12, FAM193B, GRK6, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PRR7, RAB24, RGS14, SLC34A1, TMED9 | | Sotos syndrome 1 | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176720813-176722460
| NSD1 | | Sotos syndrome 1 | Pathogenic
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:175158654-179263593
| HNRNPH1, KIAA1191, NHP2, LMAN2, MAML1, LTC4S, MGAT4B, MXD3, N4BP3, B4GALT7, ADAMTS2, ARL10, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, COL23A1, CPLX2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, NOP16, NSD1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RGS14, RMND5B, RNF44, RUFY1, SIMC1, SLC34A1, SNCB, SQSTM1, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZFP2, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 | | not provided, Sotos syndrome 1, Ehlers-Danlos syndrome, dermatosparaxis type
| Uncertain significance
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176289625-177151363
| B4GALT7, DBN1, DDX41, DOK3, F12, FAM153A, FAM193B, FGFR4, GRK6, HK3, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PRR7, RAB24, RGS14, SLC34A1, TMED9, UIMC1, UNC5A, ZNF346 | | not provided, Sotos syndrome 1 | Pathogenic
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721205
- GRCh38:
- Chr5:177294204
| NSD1 | P1905L, P1988L, P2010L, P2025L, P2028L, P2139L, P2279L | Sotos syndrome 1 | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638330
- GRCh38:
- Chr5:177211329
| NSD1 | N686S, N708S, N726S, N837S, N977S | Sotos syndrome 1 | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176694551
- GRCh38:
- Chr5:177267550
| NSD1 | | Sotos syndrome 1 | Likely benign
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176636867
- GRCh38:
- Chr5:177209866
| NSD1 | E198D, E220D, E238D, E349D, E489D | Sotos syndrome 1 | Benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637801
- GRCh38:
- Chr5:177210800
| NSD1 | A510T, A532T, A550T, A661T, A801T | Sotos syndrome 1 | Likely benign
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637575-176637576
- GRCh38:
- Chr5:177210574-177210575
| NSD1 | S435P, S457P, S475P, S586P, S726P | Sotos syndrome 1 | Likely benign
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638581
- GRCh38:
- Chr5:177211580
| NSD1 | S1061C, S770C, S792C, S810C, S921C | Sotos syndrome 1 | Benign
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176639171
- GRCh38:
- Chr5:177212170
| NSD1 | | Sotos syndrome 1 | Likely benign
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637214
- GRCh38:
- Chr5:177210213
| NSD1 | E336G, E465G, E314G, E354G, E605G | Sotos syndrome 1 | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176662964
- GRCh38:
- Chr5:177235963
| NSD1 | | Sotos syndrome 1 | Likely benign
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176694634
- GRCh38:
- Chr5:177267633
| NSD1 | E1486K, E1740K, E1449K, E1489K, E1471K, E1600K | Sotos syndrome 1 | Likely benign
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176562821
- GRCh38:
- Chr5:177135820
| NSD1 | | Sotos syndrome 1 | Likely benign
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721770
- GRCh38:
- Chr5:177294769
| NSD1 | | Sotos syndrome 1 | Likely benign
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637817
- GRCh38:
- Chr5:177210816
| NSD1 | I806T, I666T, I515T, I537T, I555T | Sotos syndrome 1 | Likely benign
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176662844
- GRCh38:
- Chr5:177235843
| NSD1 | | Sotos syndrome 1 | Likely benign
(Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176618908
- GRCh38:
- Chr5:177191907
| NSD1 | | Sotos syndrome 1 | Likely benign
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638555
- GRCh38:
- Chr5:177211554
| NSD1 | R761H, R1052H, R783H, R801H, R912H | Sotos syndrome 1 | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176666749
- GRCh38:
- Chr5:177239748
| NSD1 | | Sotos syndrome 1 | Likely benign
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721050
- GRCh38:
- Chr5:177294049
| NSD1 | | Sotos syndrome 1 | Likely benign
(May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638533
- GRCh38:
- Chr5:177211532
| NSD1 | R1045C, R776C, R754C, R794C, R905C | Sotos syndrome 1 | Benign
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176562861
- GRCh38:
- Chr5:177135860
| NSD1 | L253V | Sotos syndrome 1 | Likely benign
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637575
- GRCh38:
- Chr5:177210574
| NSD1 | | Sotos syndrome 1 | Likely benign
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176562591
- GRCh38:
- Chr5:177135590
| NSD1 | D163N | Sotos syndrome 1 | Likely benign
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638748
- GRCh38:
- Chr5:177211747
| NSD1 | | Sotos syndrome 1 | Likely benign
(Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637734
- GRCh38:
- Chr5:177210733
| NSD1 | | Sotos syndrome 1 | Benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638551
- GRCh38:
- Chr5:177211550
| NSD1 | E782K, E800K, E911K, E1051K, E760K | Sotos syndrome 1 | Likely benign
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637212
- GRCh38:
- Chr5:177210211
| NSD1 | | Sotos syndrome 1 | Benign
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176639064
- GRCh38:
- Chr5:177212063
| NSD1 | N1082D, N931D, N1222D, N971D, N953D | Sotos syndrome 1 | Likely benign
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176720820
- GRCh38:
- Chr5:177293819
| NSD1 | | Sotos syndrome 1 | Likely benign
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638253
- GRCh38:
- Chr5:177211252
| NSD1 | | Sotos syndrome 1 | Likely benign
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637426
- GRCh38:
- Chr5:177210425
| NSD1 | | Sotos syndrome 1 | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176562555
- GRCh38:
- Chr5:177135554
| NSD1 | | Sotos syndrome 1 | Likely benign
(Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176631112
- GRCh38:
- Chr5:177204111
| NSD1 | | Sotos syndrome 1 | Likely benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176636807
- GRCh38:
- Chr5:177209806
| NSD1 | D329E, D469E, D200E, D178E, D218E | Sotos syndrome 1 | Likely benign
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638569
- GRCh38:
- Chr5:177211568
| NSD1 | N766Y, N806Y, N917Y, N1057Y, N788Y | Sotos syndrome 1 | Benign
(Feb 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721258
- GRCh38:
- Chr5:177294257
| NSD1 | R2157G, R2006G, R2297G, R1923G, R2028G, R2043G, R2046G | Sotos syndrome 1 | Uncertain significance
(Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637965
- GRCh38:
- Chr5:177210964
| NSD1 | | Sotos syndrome 1 | Likely benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176722179
- GRCh38:
- Chr5:177295178
| NSD1 | G2230R, G2335R, G2353R, G2464R, G2604R, G2313R, G2350R | Sotos syndrome 1 | Likely benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638709
- GRCh38:
- Chr5:177211708
| NSD1 | D1103E, D834E, D852E, D812E, D963E | Sotos syndrome 1 | Benign
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176678853
- GRCh38:
- Chr5:177251852
| NSD1 | | Sotos syndrome 1 | Uncertain significance
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176636887
- GRCh38:
- Chr5:177209886
| NSD1 | K205R, K356R, K496R, K227R, K245R | Sotos syndrome 1 | Uncertain significance
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637099
- GRCh38:
- Chr5:177210098
| NSD1 | S567G, S298G, S427G, S276G, S316G | Sotos syndrome 1 | Uncertain significance
(Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721173
- GRCh38:
- Chr5:177294172
| NSD1 | | Sotos syndrome 1 | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637555
- GRCh38:
- Chr5:177210554
| NSD1 | A428T, A450T, A579T, A719T, A468T | Inborn genetic diseases, Sotos syndrome 1 | Likely benign
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:176618992
- GRCh38:
- Chr5:177191991
| NSD1 | | Sotos syndrome 1 | Likely benign
(Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637007
- GRCh38:
- Chr5:177210006
| NSD1 | N245S, N285S, N396S, N267S, N536S | Sotos syndrome 1 | Uncertain significance
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176618909
- GRCh38:
- Chr5:177191908
| NSD1 | P178S, P27S, P318S, P49S | Sotos syndrome 1 | Likely benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637581
- GRCh38:
- Chr5:177210580
| NSD1 | Q436H, Q458H, Q476H, Q587H, Q727H | Sotos syndrome 1 | Benign
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721698
- GRCh38:
- Chr5:177294697
| NSD1 | | Sotos syndrome 1 | Likely benign
(Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176636810
- GRCh38:
- Chr5:177209809
| NSD1 | | Sotos syndrome 1 | Likely benign
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637274
- GRCh38:
- Chr5:177210273
| NSD1 | G356E, G485E, G625E, G374E, G334E | Sotos syndrome 1 | Likely benign
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176675247
- GRCh38:
- Chr5:177248246
| NSD1 | | Sotos syndrome 1 | Likely benign
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637640
- GRCh38:
- Chr5:177210639
| NSD1 | T478I, T747I, T496I, T607I, T456I | Sotos syndrome 1 | Uncertain significance
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637271
- GRCh38:
- Chr5:177210270
| NSD1 | I373T, I484T, I624T, I333T, I355T | Sotos syndrome 1 | Uncertain significance
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176665423
- GRCh38:
- Chr5:177238422
| NSD1 | | Sotos syndrome 1 | Likely benign
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638626
- GRCh38:
- Chr5:177211625
| NSD1 | G785S, G807S, G825S, G936S, G1076S | Sotos syndrome 1 | Likely benign
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637641
- GRCh38:
- Chr5:177210640
| NSD1 | | Sotos syndrome 1 | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638825
- GRCh38:
- Chr5:177211824
| NSD1 | N1002S, N1142S, N851S, N873S, N891S | Sotos syndrome 1 | Benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638744
- GRCh38:
- Chr5:177211743
| NSD1 | K1115R, K846R, K864R, K975R, K824R | Sotos syndrome 1 | Uncertain significance
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176722168
- GRCh38:
- Chr5:177295167
| NSD1 | F2349S, F2309S, F2346S, F2331S, F2226S, F2460S, F2600S | Sotos syndrome 1 | Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176675212
- GRCh38:
- Chr5:177248211
| NSD1 | S1241G, S1219G, S1259G, S1510G, S1370G | Sotos syndrome 1 | Benign
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638434
- GRCh38:
- Chr5:177211433
| NSD1 | R1012C, R743C, R721C, R872C, R761C | Sotos syndrome 1 | Likely benign
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176720983
- GRCh38:
- Chr5:177293982
| NSD1 | H1951R, H2205R, H1831R, H1936R, H1954R, H1914R, H2065R | Sotos syndrome 1 | Likely pathogenic
(Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176707625
- GRCh38:
- Chr5:177280624
| NSD1 | | Sotos syndrome 1 | Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176720873-176720881
- GRCh38:
- Chr5:177293872-177293880
| NSD1 | | Sotos syndrome 1 | Uncertain significance
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176662862
- GRCh38:
- Chr5:177235861
| NSD1 | K1010N, K1139N, K1279N, K1028N, K988N | Sotos syndrome 1 | Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176710939
- GRCh38:
- Chr5:177283938
| NSD1 | | Sotos syndrome 1 | Likely benign
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721923-176721925
- GRCh38:
- Chr5:177294922-177294924
| NSD1 | A2147del, A2267del, A2270del, A2521del, A2252del, A2381del, A2230del | Sotos syndrome 1 | Uncertain significance
(May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637381
- GRCh38:
- Chr5:177210380
| NSD1 | S661fs, S392fs | Sotos syndrome 1 | Pathogenic
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176707681
- GRCh38:
- Chr5:177280680
| NSD1 | N1662I, N1622I, N1644I, N1659I, N1773I, N1913I | Sotos syndrome 1 | Likely pathogenic
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176694596
- GRCh38:
- Chr5:177267595
| NSD1 | A1436D, A1473D, A1476D, A1458D, A1727D, A1587D | Sotos syndrome 1 | Uncertain significance
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721274
- GRCh38:
- Chr5:177294273
| NSD1 | S2302L, S1928L, S2033L, S2048L, S2011L, S2051L, S2162L | Sotos syndrome 1 | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176684051
- GRCh38:
- Chr5:177257050
| NSD1 | K1482R, K1353R, K1371R, K1622R, K1331R, K1368R | Sotos syndrome 1 | Uncertain significance
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176665282
- GRCh38:
- Chr5:177238281
| NSD1 | | Sotos syndrome 1 | Likely benign
(Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176562356
- GRCh38:
- Chr5:177135355
| NSD1 | | Sotos syndrome 1 | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176638925
- GRCh38:
- Chr5:177211924
| NSD1 | N1175K, N906K, N1035K, N924K, N884K | Sotos syndrome 1 | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176720911
- GRCh38:
- Chr5:177293910
| NSD1 | S1930Y, S1807Y, S1912Y, S1927Y, S1890Y, S2041Y, S2181Y | Sotos syndrome 1 | Uncertain significance
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721219
- GRCh38:
- Chr5:177294218
| NSD1 | E2015*, E2033*, E2284*, E2030*, E1910*, E1993*, E2144* | Sotos syndrome 1 | Pathogenic
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176710841
- GRCh38:
- Chr5:177283840
| NSD1 | H1752Q, H1767Q, H1881Q, H1730Q, H1770Q, H2021Q | Sotos syndrome 1 | Uncertain significance
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176562303
- GRCh38:
- Chr5:177135302
| NSD1 | S67T | Sotos syndrome 1 | Uncertain significance
(Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176709548
- GRCh38:
- Chr5:177282547
| NSD1 | D1701G, D1992G, D1723G, D1738G, D1741G, D1852G | Sotos syndrome 1 | Uncertain significance
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176637425
- GRCh38:
- Chr5:177210424
| NSD1 | M384I, M535I, M406I, M675I, M424I | Sotos syndrome 1 | Uncertain significance
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721633
- GRCh38:
- Chr5:177294632
| NSD1 | E2048Q, E2153Q, E2171Q, E2131Q, E2168Q, E2282Q, E2422Q | Sotos syndrome 1 | Benign
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176671193
- GRCh38:
- Chr5:177244192
| NSD1 | | Sotos syndrome 1 | Pathogenic
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176636698
- GRCh38:
- Chr5:177209697
| NSD1 | K435fs, K166fs | Sotos syndrome 1 | Pathogenic
(Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176721587
- GRCh38:
- Chr5:177294586
| NSD1 | | Sotos syndrome 1 | Likely benign
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176696801
- GRCh38:
- Chr5:177269800
| LOC126807619, NSD1 | | Sotos syndrome 1 | Likely benign
(Mar 26, 2022) | criteria provided, single submitter |