ClinVar Miner

List of variants in gene NSD1 reported as uncertain significance for Sotos syndrome

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Gene type:
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Total variants: 51
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HGVS dbSNP
NM_022455.4(NSD1):c.*1014dupT rs886060448
NM_022455.4(NSD1):c.*1177G>A rs758560899
NM_022455.4(NSD1):c.*1421C>A rs886060449
NM_022455.4(NSD1):c.*1606G>T rs886060450
NM_022455.4(NSD1):c.*1717G>A rs145418928
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.*3340T>C rs770565468
NM_022455.4(NSD1):c.*3805G>A rs886060454
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.*4033G>A rs547553351
NM_022455.4(NSD1):c.*4523C>T rs886060456
NM_022455.4(NSD1):c.*4539A>G rs886060457
NM_022455.4(NSD1):c.*4596delG rs886060459
NM_022455.4(NSD1):c.*4601C>T rs886060463
NM_022455.4(NSD1):c.*4604C>T rs886060464
NM_022455.4(NSD1):c.*4609_*4611delCCC rs60995782
NM_022455.4(NSD1):c.*4610_*4611delCC rs60995782
NM_022455.4(NSD1):c.*4610_*4611dupCC rs60995782
NM_022455.4(NSD1):c.*4611dupC rs60995782
NM_022455.4(NSD1):c.*4612delG rs886060465
NM_022455.4(NSD1):c.*565delA rs886060446
NM_022455.4(NSD1):c.*839dupA 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.1035G>A (p.Pro345=) rs776701573
NM_022455.4(NSD1):c.1063+10dupG rs762416925
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.2725A>G (p.Thr909Ala) rs886060440
NM_022455.4(NSD1):c.3133C>T (p.Arg1045Cys) rs377148087
NM_022455.4(NSD1):c.3397A>G (p.Lys1133Glu) rs886060441
NM_022455.4(NSD1):c.3502A>T (p.Thr1168Ser) rs766742277
NM_022455.4(NSD1):c.3657A>G (p.Thr1219=) rs886060442
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.4605C>T (p.Arg1535=) rs140229717
NM_022455.4(NSD1):c.5007C>T (p.His1669=) rs146414176
NM_022455.4(NSD1):c.658G>T (p.Gly220Cys) rs755449099
NM_022455.4(NSD1):c.6990C>T (p.Ser2330=) rs200462804
NM_022455.4(NSD1):c.7025C>T (p.Ser2342Leu) rs201609442

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