ClinVar Miner

List of variants reported as pathogenic for Lennox-Gastaut syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP
CHD2, ARG1644LYSFSTER22
CHD2, GLU1412GLYFSTER64
CHD2, GLY491VALFSTER13
CHD2, TRP548ARG
NC_000015.10:g.(?_92901218)_(92901319_?)del
NC_000015.10:g.(?_92901218)_(93040513_?)del
NC_000015.10:g.(?_92929010)_(92929111_?)del
NC_000015.10:g.(?_92939558)_(92944535_?)del
NC_000015.10:g.(?_92967305)_(93012464_?)del
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe) rs886037939
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys) rs886037940
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr) rs886037941
NM_001271.3(CHD2):c.3787dupG (p.Val1263Glyfs) rs869312877
NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter) rs1555439714
NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter) rs1555439719
NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer) rs1567136357
NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer) rs1567138270
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1452dup (p.Arg485fs) rs864309535
NM_001271.4(CHD2):c.1502+1G>A rs864309536
NM_001271.4(CHD2):c.1541dup (p.Thr516fs)
NM_001271.4(CHD2):c.1552del (p.Gln518fs) rs869312705
NM_001271.4(CHD2):c.1642T>C (p.Trp548Arg) rs864309537
NM_001271.4(CHD2):c.1808del (p.Lys603fs) rs864309538
NM_001271.4(CHD2):c.1809+1del rs397514739
NM_001271.4(CHD2):c.1810-2A>C rs398122999
NM_001271.4(CHD2):c.1883T>G (p.Leu628Ter) rs1555440885
NM_001271.4(CHD2):c.1894dup (p.Thr632fs)
NM_001271.4(CHD2):c.1895_1896CT[1] (p.Leu633fs)
NM_001271.4(CHD2):c.1942C>T (p.Pro648Ser) rs864309539
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) rs146691368
NM_001271.4(CHD2):c.2468T>C (p.Leu823Pro) rs864309540
NM_001271.4(CHD2):c.2567A>G (p.Asp856Gly) rs864309541
NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter)
NM_001271.4(CHD2):c.2725C>T (p.Gln909Ter) rs864309542
NM_001271.4(CHD2):c.2765dup (p.Glu923fs) rs1555442886
NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer) rs1555442889
NM_001271.4(CHD2):c.3171_3172del (p.Glu1058fs)
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter) rs1596436494
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) rs767106034
NM_001271.4(CHD2):c.335C>G (p.Ser112Ter) rs864309534
NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter) rs773860345
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) rs1057518128
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter)
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter)
NM_001271.4(CHD2):c.4003G>T (p.Glu1335Ter) rs1246923304
NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter) rs1567159145
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter) rs3210462
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) rs864309543
NM_001271.4(CHD2):c.4256_4274del (p.Lys1419fs) rs864309544
NM_001271.4(CHD2):c.4724del (p.Gly1575fs) rs864309545
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_001271.4(CHD2):c.4931_4932del (p.Arg1644fs) rs864309549
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter) rs761127171
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter) rs1567133726
NM_001271.4(CHD2):c.739G>T (p.Glu247Ter) rs1567135138
NM_001271.4(CHD2):c.879_883del (p.Ser293fs) rs1060503517
NM_001271.4(CHD2):c.948C>A (p.Tyr316Ter)
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser) rs1554774575
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) rs1554774587
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1090_1091insTTCCAC (p.Arg364_Ile365insLeuPro) rs1564332930
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004408.4(DNM1):c.529G>C (p.Ala177Pro) rs587777860
NM_004408.4(DNM1):c.618G>C (p.Lys206Asn) rs587777861
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) rs1554774401
NM_198903.2(GABRG2):c.406C>T (p.Arg136Ter) rs796052504
NP_001262.3(CHD2):p.Asn1600Serfs*209
NP_001262.3(CHD2):p.Glu966SerfsTer2
NP_001262.3(CHD2):p.Gly1651TrpfsTer16
NP_001262.3(CHD2):p.Leu1591Xfs

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