ClinVar Miner

List of variants in gene CHD2 reported as pathogenic for Epileptic encephalopathy, childhood-onset

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP
CHD2, ARG1644LYSFSTER22
CHD2, GLU1412GLYFSTER64
CHD2, GLY491VALFSTER13
CHD2, TRP548ARG
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.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.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.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.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.4003G>T (p.Glu1335Ter)
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)
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)
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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.