ClinVar Miner

List of variants in gene NSD1 studied for Sotos syndrome

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Gene type:
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Total variants: 118
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HGVS dbSNP
NM_022455.4(NSD1):c.*1014dup rs886060448
NM_022455.4(NSD1):c.*1053C>A rs139257248
NM_022455.4(NSD1):c.*1116G>A rs75224805
NM_022455.4(NSD1):c.*1177G>A rs758560899
NM_022455.4(NSD1):c.*1220T>C rs11956153
NM_022455.4(NSD1):c.*1421C>A rs886060449
NM_022455.4(NSD1):c.*1542A>G rs551304965
NM_022455.4(NSD1):c.*1597G>A rs11952926
NM_022455.4(NSD1):c.*1606G>T rs886060450
NM_022455.4(NSD1):c.*1717G>A rs145418928
NM_022455.4(NSD1):c.*1870G>A rs566513882
NM_022455.4(NSD1):c.*209G>T rs371876700
NM_022455.4(NSD1):c.*2160A>C rs144806239
NM_022455.4(NSD1):c.*2185A>G rs12659551
NM_022455.4(NSD1):c.*220_*223delCCAA rs886060444
NM_022455.4(NSD1):c.*2281T>G rs886060451
NM_022455.4(NSD1):c.*2330A>G rs886060452
NM_022455.4(NSD1):c.*2395T>C rs113322699
NM_022455.4(NSD1):c.*3098dup rs145155077
NM_022455.4(NSD1):c.*3141G>A rs75981583
NM_022455.4(NSD1):c.*3279G>T rs78749307
NM_022455.4(NSD1):c.*3291A>G rs142054758
NM_022455.4(NSD1):c.*3338A>C rs75587357
NM_022455.4(NSD1):c.*3340T>C rs770565468
NM_022455.4(NSD1):c.*3495A>G rs80330628
NM_022455.4(NSD1):c.*3542T>C rs4976682
NM_022455.4(NSD1):c.*3805G>A rs886060454
NM_022455.4(NSD1):c.*3827T>C rs118177896
NM_022455.4(NSD1):c.*3861G>C rs886060455
NM_022455.4(NSD1):c.*3920C>T rs767561948
NM_022455.4(NSD1):c.*400C>T rs886060445
NM_022455.4(NSD1):c.*4027T>C rs114048132
NM_022455.4(NSD1):c.*4033G>A rs547553351
NM_022455.4(NSD1):c.*407G>A rs140990285
NM_022455.4(NSD1):c.*4175G>A rs3088050
NM_022455.4(NSD1):c.*4199T>G rs78991579
NM_022455.4(NSD1):c.*4331C>G rs187514085
NM_022455.4(NSD1):c.*4344C>T rs531214385
NM_022455.4(NSD1):c.*4360T>G rs536849961
NM_022455.4(NSD1):c.*4459G>T rs551390187
NM_022455.4(NSD1):c.*4523C>T rs886060456
NM_022455.4(NSD1):c.*4539A>G rs886060457
NM_022455.4(NSD1):c.*4541dup rs199804578
NM_022455.4(NSD1):c.*4596del rs886060459
NM_022455.4(NSD1):c.*4601C>T rs886060463
NM_022455.4(NSD1):c.*4604C>T rs886060464
NM_022455.4(NSD1):c.*4609_*4611del rs60995782
NM_022455.4(NSD1):c.*4610_*4611del rs60995782
NM_022455.4(NSD1):c.*4610_*4611dup rs60995782
NM_022455.4(NSD1):c.*4611del rs60995782
NM_022455.4(NSD1):c.*4611dup rs60995782
NM_022455.4(NSD1):c.*4612del rs886060465
NM_022455.4(NSD1):c.*565del rs886060446
NM_022455.4(NSD1):c.*800G>A rs116094681
NM_022455.4(NSD1):c.*839dup rs886060447
NM_022455.4(NSD1):c.*946C>T rs370059100
NM_022455.4(NSD1):c.-134C>T rs886060435
NM_022455.4(NSD1):c.-33G>T rs886060437
NM_022455.4(NSD1):c.-65A>T rs886060436
NM_022455.4(NSD1):c.-8G>A rs199639292
NM_022455.4(NSD1):c.1035G>A (p.Pro345=) rs776701573
NM_022455.4(NSD1):c.1063+10dup rs762416925
NM_022455.4(NSD1):c.1317C>T (p.Asn439=) rs150421873
NM_022455.4(NSD1):c.1482C>T (p.Cys494=) rs1363405
NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr) rs559617787
NM_022455.4(NSD1):c.1749G>A (p.Glu583=) rs3733874
NM_022455.4(NSD1):c.1792T>C (p.Leu598=) rs28932176
NM_022455.4(NSD1):c.1840G>T (p.Val614Leu) rs3733875
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
NM_022455.4(NSD1):c.2170G>A (p.Glu724Lys) rs771456995
NM_022455.4(NSD1):c.2176T>C (p.Ser726Pro) rs28932178
NM_022455.4(NSD1):c.2194G>T (p.Asp732Tyr) rs151111670
NM_022455.4(NSD1):c.2208T>C (p.Ser736=) rs766816290
NM_022455.4(NSD1):c.2251C>G (p.Leu751Val) rs775181583
NM_022455.4(NSD1):c.2266A>G (p.Asn756Asp) rs142657029
NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu) rs201327209
NM_022455.4(NSD1):c.2601C>A (p.Leu867=) rs368078696
NM_022455.4(NSD1):c.2696T>C (p.Ile899Thr) rs142703625
NM_022455.4(NSD1):c.2725A>G (p.Thr909Ala) rs886060440
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179
NM_022455.4(NSD1):c.3133C>T (p.Arg1045Cys) rs377148087
NM_022455.4(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983
NM_022455.4(NSD1):c.3397A>G (p.Lys1133Glu) rs886060441
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
NM_022455.4(NSD1):c.3502A>T (p.Thr1168Ser) rs766742277
NM_022455.4(NSD1):c.3540A>G (p.Lys1180=) rs776683728
NM_022455.4(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669
NM_022455.4(NSD1):c.3649C>T (p.Pro1217Ser) rs372004424
NM_022455.4(NSD1):c.3657A>G (p.Thr1219=) rs886060442
NM_022455.4(NSD1):c.3705T>C (p.Asn1235=) rs28932181
NM_022455.4(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637
NM_022455.4(NSD1):c.376A>G (p.Met126Val) rs886060438
NM_022455.4(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736
NM_022455.4(NSD1):c.3931C>T (p.Arg1311Cys) rs886060443
NM_022455.4(NSD1):c.4187C>T (p.Thr1396Met) rs747298351
NM_022455.4(NSD1):c.4303-4A>G rs775759198
NM_022455.4(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900
NM_022455.4(NSD1):c.4498-10del rs200890017
NM_022455.4(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.4(NSD1):c.4605C>T (p.Arg1535=) rs140229717
NM_022455.4(NSD1):c.4642-7T>C rs183928380
NM_022455.4(NSD1):c.480C>T (p.Asp160=) rs79427433
NM_022455.4(NSD1):c.5007C>T (p.His1669=) rs146414176
NM_022455.4(NSD1):c.5712C>T (p.Pro1904=) rs756321444
NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.4(NSD1):c.658G>T (p.Gly220Cys) rs755449099
NM_022455.4(NSD1):c.6750G>A (p.Met2250Ile) rs35848863
NM_022455.4(NSD1):c.6782T>C (p.Met2261Thr) rs34165241
NM_022455.4(NSD1):c.6829T>C (p.Leu2277=) rs28580074
NM_022455.4(NSD1):c.6903G>C (p.Gly2301=) rs11740250
NM_022455.4(NSD1):c.6990C>T (p.Ser2330=) rs200462804
NM_022455.4(NSD1):c.7025C>T (p.Ser2342Leu) rs201609442
NM_022455.4(NSD1):c.7350T>C (p.Asn2450=) rs200241618
NM_022455.4(NSD1):c.7575C>T (p.Asp2525=) rs148891711
NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630

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