ClinVar Miner

List of variants reported as likely pathogenic for Complex neurodevelopmental disorder

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Total variants: 64
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HGVS dbSNP
GRCh37/hg19 12p13.1(chr12:13595477-13814290)x1
GRCh37/hg19 12p13.1(chr12:14042568-14133113)x1
NCBI36/hg18 12p13.1(chr12:13526418-13654145)x1
NCBI36/hg18 6p21.32(chr6:33451137-33543925)x1
NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.4(GRIN2B):c.1832G>T (p.Gly611Val)
NM_000834.4(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.4(GRIN2B):c.2060C>T (p.Pro687Leu)
NM_000834.4(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.4(GRIN2B):c.2081A>G (p.Asn694Ser) rs1591612317
NM_000834.4(GRIN2B):c.2341C>G (p.Leu781Val) rs1064796752
NM_000834.4(GRIN2B):c.2477G>A (p.Gly826Glu) rs1064794979
NM_000834.4(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter)
NM_000834.5(GRIN2B):c.1496G>A (p.Gly499Glu)
NM_000834.5(GRIN2B):c.1555C>G (p.Arg519Gly)
NM_000834.5(GRIN2B):c.1627G>C (p.Gly543Arg)
NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile)
NM_000834.5(GRIN2B):c.1937A>G rs1565474582
NM_000834.5(GRIN2B):c.2087G>A rs1555103971
NM_000834.5(GRIN2B):c.2237G>A (p.Cys746Tyr)
NM_000834.5(GRIN2B):c.2776C>T rs1555102536
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
NM_001040142.2(SCN2A):c.1283A>G (p.Tyr428Cys) rs796053182
NM_001040142.2(SCN2A):c.1528C>T (p.Gln510Ter)
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe)
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.2894T>G (p.Met965Arg)
NM_001040142.2(SCN2A):c.2932T>C (p.Phe978Leu)
NM_001040142.2(SCN2A):c.3217G>T (p.Gly1073Ter) rs1553584053
NM_001040142.2(SCN2A):c.3399G>C (p.Glu1133Asp)
NM_001040142.2(SCN2A):c.3778A>C (p.Lys1260Gln)
NM_001040142.2(SCN2A):c.3778A>G (p.Lys1260Glu)
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.4369ATT[1] (p.Ile1458del) rs796053193
NM_001040142.2(SCN2A):c.4489TAC[1] (p.Tyr1498del)
NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr) rs1553462227
NM_001040142.2(SCN2A):c.4506A>T (p.Lys1502Asn)
NM_001040142.2(SCN2A):c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle) rs796053195
NM_001040142.2(SCN2A):c.4777G>A (p.Gly1593Arg) rs886041259
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu) rs1553463140
NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs) rs1574751309
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4896_4897insT (p.Ile1633fs)
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)
NM_001040142.2(SCN2A):c.4984A>G (p.Asn1662Asp)
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5339G>T (p.Ser1780Ile) rs796053163
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp)
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp)
NM_001040142.2(SCN2A):c.710T>A (p.Ile237Asn)
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001271.4(CHD2):c.2068C>T (p.His690Tyr)
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) rs797045041
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs) rs1555990958
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser)
NM_006772.3(SYNGAP1):c.1676+5G>T
NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter)
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter) rs1554120978

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