ClinVar Miner

List of variants in gene NSD1 reported as pathogenic for Sotos syndrome 1

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Gene type:
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Total variants: 174
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HGVS dbSNP
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del
NM_022455.4(NSD1):c.1077del (p.Arg359fs) rs587784068
NM_022455.4(NSD1):c.1262G>A (p.Trp421Ter) rs587784071
NM_022455.4(NSD1):c.1264dup (p.Glu422fs) rs797045804
NM_022455.4(NSD1):c.1310C>G (p.Ser437Ter) rs121908067
NM_022455.4(NSD1):c.1456del (p.Ser486fs) rs587784073
NM_022455.4(NSD1):c.1549C>T (p.Gln517Ter) rs1131692328
NM_022455.4(NSD1):c.1743del (p.Glu581fs) rs794729232
NM_022455.4(NSD1):c.1802dup (p.Cys602fs) rs797045805
NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.4(NSD1):c.1831C>T (p.Arg611Ter) rs587784077
NM_022455.4(NSD1):c.1873G>T (p.Gly625Ter) rs1286331975
NM_022455.4(NSD1):c.2014_2018del (p.Thr672fs) rs587784078
NM_022455.4(NSD1):c.2048del (p.Lys683fs) rs587784079
NM_022455.4(NSD1):c.2049_2053del (p.Ile684fs) rs587784080
NM_022455.4(NSD1):c.2064del (p.Arg688fs) rs587784081
NM_022455.4(NSD1):c.2124_2127del (p.His708fs) rs587784082
NM_022455.4(NSD1):c.2137dup (p.Met713fs)
NM_022455.4(NSD1):c.2167dup (p.Thr723fs) rs797045807
NM_022455.4(NSD1):c.2190_2191delinsG (p.Ser731fs) rs797045808
NM_022455.4(NSD1):c.2276C>G (p.Ser759Ter) rs587784084
NM_022455.4(NSD1):c.2295del (p.Ser766fs) rs587784085
NM_022455.4(NSD1):c.2314del (p.Ala772fs) rs1554189482
NM_022455.4(NSD1):c.2339C>A (p.Ser780Ter) rs201327209
NM_022455.4(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.4(NSD1):c.2613del (p.Ser871_Leu872insTer)
NM_022455.4(NSD1):c.2639del (p.Gly880fs) rs587784087
NM_022455.4(NSD1):c.2654C>A (p.Ser885Ter) rs587784088
NM_022455.4(NSD1):c.2827del (p.Asp943fs) rs587784089
NM_022455.4(NSD1):c.2859dup (p.Lys954Ter) rs797045809
NM_022455.4(NSD1):c.2952_2953CT[1] (p.Ser985fs) rs587784092
NM_022455.4(NSD1):c.2956del (p.Ala986fs) rs587784093
NM_022455.4(NSD1):c.3004_3005del (p.Lys1002fs) rs1554189941
NM_022455.4(NSD1):c.3038C>G (p.Ser1013Ter) rs1006906224
NM_022455.4(NSD1):c.3044_3045GT[1] (p.Val1016fs) rs587784094
NM_022455.4(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.4(NSD1):c.3091C>T (p.Arg1031Ter) rs587784096
NM_022455.4(NSD1):c.3146dup (p.Thr1050fs) rs797045810
NM_022455.4(NSD1):c.3183_3184TG[1] (p.Val1062fs) rs587784097
NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.4(NSD1):c.3260_3266del (p.Lys1087fs) rs797045811
NM_022455.4(NSD1):c.3293del (p.Thr1098fs) rs587784099
NM_022455.4(NSD1):c.3295del (p.Ser1099fs) rs587784100
NM_022455.4(NSD1):c.3316dup (p.Ser1106fs) rs797045812
NM_022455.4(NSD1):c.3379_3380CT[2] (p.Ser1128fs) rs587784101
NM_022455.4(NSD1):c.3536del (p.Glu1179fs) rs1562213381
NM_022455.4(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.4(NSD1):c.3578_3582del (p.Ser1193fs) rs587784103
NM_022455.4(NSD1):c.3578dup (p.Ser1193fs) rs797045814
NM_022455.4(NSD1):c.3657_3658AG[1] (p.Glu1220fs) rs587784104
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.4(NSD1):c.3922-2_3925delinsG rs1554195815
NM_022455.4(NSD1):c.3939dup (p.Glu1314fs) rs797045815
NM_022455.4(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.4(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.4(NSD1):c.4020del (p.Glu1341fs) rs797045816
NM_022455.4(NSD1):c.4057G>T (p.Glu1353Ter) rs587784109
NM_022455.4(NSD1):c.4076C>G (p.Ser1359Ter) rs587784110
NM_022455.4(NSD1):c.4192+2T>G rs587784111
NM_022455.4(NSD1):c.4282dup (p.Asp1428fs) rs797045817
NM_022455.4(NSD1):c.4301del (p.Lys1434fs) rs587784112
NM_022455.4(NSD1):c.4301dup (p.Cys1435fs) rs587784112
NM_022455.4(NSD1):c.4302+1G>A rs1562246533
NM_022455.4(NSD1):c.4376del (p.Gly1459fs) rs587784114
NM_022455.4(NSD1):c.4378+1G>A rs587784115
NM_022455.4(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.4(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.4(NSD1):c.4444C>T (p.Gln1482Ter) rs587784118
NM_022455.4(NSD1):c.4479_4488dup (p.Gly1497fs) rs797045819
NM_022455.4(NSD1):c.4493C>G (p.Ser1498Ter) rs587784119
NM_022455.4(NSD1):c.4498-3A>G rs587784120
NM_022455.4(NSD1):c.4529del (p.Ser1510fs) rs587784121
NM_022455.4(NSD1):c.4681C>T (p.Gln1561Ter) rs587784122
NM_022455.4(NSD1):c.4705del (p.Glu1569fs) rs587784123
NM_022455.4(NSD1):c.4731_4732del (p.Gly1579fs) rs587784124
NM_022455.4(NSD1):c.4732dup (p.Arg1578fs) rs797045820
NM_022455.4(NSD1):c.4745del (p.Ile1582fs) rs587784125
NM_022455.4(NSD1):c.4753G>T (p.Glu1585Ter) rs587784126
NM_022455.4(NSD1):c.4771C>T (p.His1591Tyr) rs1554199368
NM_022455.4(NSD1):c.4855T>A (p.Cys1619Ser) rs587784128
NM_022455.4(NSD1):c.4855T>G (p.Cys1619Gly) rs587784128
NM_022455.4(NSD1):c.4882_4883insAA (p.Met1628fs) rs797045821
NM_022455.4(NSD1):c.4907C>T (p.Ser1636Phe) rs587784129
NM_022455.4(NSD1):c.4966+1G>A rs587784131
NM_022455.4(NSD1):c.4966G>T (p.Gly1656Cys) rs587784132
NM_022455.4(NSD1):c.4967-2A>T rs587784133
NM_022455.4(NSD1):c.4977dup (p.Arg1660fs) rs1562269320
NM_022455.4(NSD1):c.4987C>T (p.Arg1663Cys) rs587784134
NM_022455.4(NSD1):c.5098C>T (p.Arg1700Ter) rs587784137
NM_022455.4(NSD1):c.5141C>G (p.Ser1714Ter) rs587784138
NM_022455.4(NSD1):c.5146+1G>A rs587784139
NM_022455.4(NSD1):c.5279_5282del (p.Val1760fs) rs398124379
NM_022455.4(NSD1):c.5303+1G>C rs587784141
NM_022455.4(NSD1):c.5309G>A (p.Trp1770Ter) rs587784142
NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.4(NSD1):c.5375G>A (p.Gly1792Glu) rs587784143
NM_022455.4(NSD1):c.5392_5398del (p.Phe1798fs) rs587784145
NM_022455.4(NSD1):c.5407_5410dup (p.Tyr1804Ter) rs797045823
NM_022455.4(NSD1):c.5408_5411delACTAins9
NM_022455.4(NSD1):c.5425C>T (p.Gln1809Ter) rs587784147
NM_022455.4(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022455.4(NSD1):c.5432G>A (p.Arg1811Gln) rs587784149
NM_022455.4(NSD1):c.5566C>T (p.Gln1856Ter) rs587784151
NM_022455.4(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.4(NSD1):c.5616_5617TA[1] (p.Ile1873fs) rs587784152
NM_022455.4(NSD1):c.5712del (p.Cys1905fs) rs587784153
NM_022455.4(NSD1):c.5724del (p.Ser1909fs) rs1562292879
NM_022455.4(NSD1):c.5740C>T (p.Arg1914Cys) rs587784154
NM_022455.4(NSD1):c.5790dup (p.Cys1931fs) rs797045824
NM_022455.4(NSD1):c.5800C>T (p.Gln1934Ter) rs587784157
NM_022455.4(NSD1):c.5805C>A (p.Cys1935Ter) rs587784158
NM_022455.4(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.4(NSD1):c.5862G>C (p.Trp1954Cys) rs587784160
NM_022455.4(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.4(NSD1):c.5893-2A>G rs587784163
NM_022455.4(NSD1):c.5903del (p.Val1968fs) rs587784164
NM_022455.4(NSD1):c.5911del (p.Tyr1971fs) rs587784165
NM_022455.4(NSD1):c.5938G>T (p.Glu1980Ter) rs587784168
NM_022455.4(NSD1):c.5950C>T (p.Arg1984Ter) rs797045057
NM_022455.4(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.4(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022455.4(NSD1):c.5989T>C (p.Tyr1997His) rs587784171
NM_022455.4(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.4(NSD1):c.5997_5998insT (p.Thr2000fs) rs1562295135
NM_022455.4(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.4(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.4(NSD1):c.6059A>G (p.Asn2020Ser) rs587784178
NM_022455.4(NSD1):c.6070C>T (p.Gln2024Ter) rs587784179
NM_022455.4(NSD1):c.6094_6095dup (p.Trp2032fs) rs797045826
NM_022455.4(NSD1):c.6112dup (p.Thr2038fs) rs797045827
NM_022455.4(NSD1):c.6151+1G>A rs1562296511
NM_022455.4(NSD1):c.6157G>T (p.Glu2053Ter) rs587784183
NM_022455.4(NSD1):c.6165del (p.Phe2056fs) rs587784184
NM_022455.4(NSD1):c.6218dup (p.Ala2074fs) rs797045828
NM_022455.4(NSD1):c.6258+1G>A rs587784185
NM_022455.4(NSD1):c.6290dup (p.Lys2098fs) rs797045829
NM_022455.4(NSD1):c.6291del (p.Lys2098fs) rs587784186
NM_022455.4(NSD1):c.6307C>T (p.Gln2103Ter) rs587784187
NM_022455.4(NSD1):c.6307_6308insTGTGC (p.Gln2103fs) rs797045830
NM_022455.4(NSD1):c.6310C>T (p.Gln2104Ter) rs587784188
NM_022455.4(NSD1):c.6311_6312del (p.Gln2104fs) rs587784189
NM_022455.4(NSD1):c.6344dup (p.Glu2116fs) rs797045831
NM_022455.4(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.4(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.4(NSD1):c.6358G>T (p.Glu2120Ter)
NM_022455.4(NSD1):c.6366del (p.Phe2122fs) rs587784192
NM_022455.4(NSD1):c.6377A>T (p.Asp2126Val) rs587784193
NM_022455.4(NSD1):c.6421del (p.Val2141fs) rs587784197
NM_022455.4(NSD1):c.6429C>G (p.His2143Gln) rs121908068
NM_022455.4(NSD1):c.6431del (p.Ala2144fs) rs587784198
NM_022455.4(NSD1):c.6450dup (p.Lys2151fs) rs864309639
NM_022455.4(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.4(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.4(NSD1):c.6459_6463+5del rs797045832
NM_022455.4(NSD1):c.6472G>T (p.Glu2158Ter) rs587784201
NM_022455.4(NSD1):c.6476G>A (p.Cys2159Tyr) rs587784202
NM_022455.4(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
NM_022455.4(NSD1):c.6537dup (p.Ser2180fs) rs879253860
NM_022455.4(NSD1):c.6539_6557del (p.Ser2180fs) rs587784207
NM_022455.4(NSD1):c.6548G>C (p.Cys2183Ser) rs121908069
NM_022455.4(NSD1):c.6559C>T (p.Arg2187Ter) rs587784209
NM_022455.4(NSD1):c.6604T>A (p.Cys2202Ser) rs587784210
NM_022455.4(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.4(NSD1):c.6656G>A (p.Arg2219His) rs587784214
NM_022455.4(NSD1):c.7783A>T (p.Lys2595Ter) rs797045834
NM_022455.4(NSD1):c.7937_7938CA[1] (p.Gln2647fs) rs587784219
NM_022455.4(NSD1):c.7966C>T (p.Gln2656Ter) rs797045058
NM_022455.4(NSD1):c.7968_7971del (p.Gln2656fs) rs1562312238
NM_022455.4(NSD1):c.8036del (p.Pro2679fs) rs587784220
NM_022455.4(NSD1):c.8043del (p.Asn2682fs) rs587784221
NM_022455.4(NSD1):c.896del (p.Ser299fs) rs1562099585
NSD1, 1.9-MB DEL

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