ClinVar Miner

List of variants reported as likely pathogenic for Sotos syndrome 1

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Total variants: 65
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HGVS dbSNP
NC_000005.9:g.(?_176662802)_(176662966_?)dup
NM_022455.4(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer) rs1554189972
NM_022455.4(NSD1):c.4193-1G>A rs1581411423
NM_022455.4(NSD1):c.4379-2A>G rs1581429903
NM_022455.4(NSD1):c.4538_4539insTCCT (p.Glu1513fs) rs1581433729
NM_022455.4(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.4(NSD1):c.4844A>C (p.Tyr1615Ser) rs398124378
NM_022455.4(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437
NM_022455.4(NSD1):c.5021G>A (p.Cys1674Tyr) rs587784135
NM_022455.4(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.4(NSD1):c.5146+1G>A rs587784139
NM_022455.4(NSD1):c.5149G>C (p.Gly1717Arg) rs1562278357
NM_022455.4(NSD1):c.5198G>A (p.Cys1733Tyr) rs587784140
NM_022455.4(NSD1):c.5276T>C (p.Ile1759Thr) rs1060501498
NM_022455.4(NSD1):c.5303+1G>C rs587784141
NM_022455.4(NSD1):c.5304-1G>C rs863224905
NM_022455.4(NSD1):c.5390T>C (p.Leu1797Pro) rs587784144
NM_022455.4(NSD1):c.5419A>C (p.Thr1807Pro) rs587784146
NM_022455.4(NSD1):c.5471A>G (p.Asp1824Gly) rs587784150
NM_022455.4(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.4(NSD1):c.5736C>G (p.Ile1912Met) rs1562292890
NM_022455.4(NSD1):c.5741G>C (p.Arg1914Pro) rs587784155
NM_022455.4(NSD1):c.5798A>G (p.Asn1933Ser) rs587784156
NM_022455.4(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.4(NSD1):c.5892+1G>A rs886039579
NM_022455.4(NSD1):c.5918G>T (p.Gly1973Val) rs587784166
NM_022455.4(NSD1):c.5927T>A (p.Ile1976Lys) rs587784167
NM_022455.4(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.4(NSD1):c.6019A>T (p.Ile2007Phe) rs1057516048
NM_022455.4(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.4(NSD1):c.6043T>C (p.Tyr2015His) rs587784175
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.4(NSD1):c.6080G>C (p.Cys2027Ser) rs587784180
NM_022455.4(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.4(NSD1):c.6256A>T (p.Lys2086Ter) rs1581548112
NM_022455.4(NSD1):c.6328C>T (p.Gln2110Ter) rs1554206783
NM_022455.4(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.4(NSD1):c.6366T>G (p.Phe2122Leu) rs1562305653
NM_022455.4(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.4(NSD1):c.6418A>G (p.Lys2140Glu) rs587784196
NM_022455.4(NSD1):c.6424T>G (p.Tyr2142Asp) rs1562305920
NM_022455.4(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.4(NSD1):c.6485A>C (p.His2162Pro) rs587784204
NM_022455.4(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.4(NSD1):c.6542_6544dup (p.Ser2181dup) rs797045833
NM_022455.4(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022455.4(NSD1):c.6613C>T (p.His2205Tyr) rs1554207316
NM_022455.4(NSD1):c.6630_6644del (p.Asn2211_Pro2215del) rs587784211
NM_022455.4(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690
NM_022455.4:c.5623-?_c.8091+?del
NM_022455.5(NSD1):c.197dup (p.Ser67fs)
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs)
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter)
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser)
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)
NM_022455.5(NSD1):c.5398G>C (p.Gly1800Arg)
NM_022455.5(NSD1):c.5474dup (p.Met1826fs)
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp)
NM_022455.5(NSD1):c.5758T>A rs1554204122
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly)
NM_022455.5(NSD1):c.6068_6151+174del
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly)
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe)
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu)

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