ClinVar Miner

List of variants in gene CHD2 reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu) rs150951454 0.00001
NC_000015.9:g.(?_93547827)_(93558159_?)dup
NM_001271.4(CHD2):c.1052+1G>T
NM_001271.4(CHD2):c.1053-2A>C
NM_001271.4(CHD2):c.1126C>T (p.Gln376Ter) rs2053431254
NM_001271.4(CHD2):c.1151_1153+4del rs2053431516
NM_001271.4(CHD2):c.1154-1G>T
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1198+2T>C
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe)
NM_001271.4(CHD2):c.1503-2A>G
NM_001271.4(CHD2):c.1570dup (p.Ser524fs)
NM_001271.4(CHD2):c.1720-155_1727delinsT rs1596406306
NM_001271.4(CHD2):c.1809+1G>A rs1057520592
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro) rs2141816539
NM_001271.4(CHD2):c.1898dup (p.Ile634fs)
NM_001271.4(CHD2):c.1934C>A (p.Thr645Lys) rs2053619460
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.2068C>T (p.His690Tyr) rs2053779726
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2190-1G>C rs2053845402
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro) rs1596419511
NM_001271.4(CHD2):c.2435T>C (p.Ile812Thr) rs2141836224
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs) rs2141839134
NM_001271.4(CHD2):c.2605_2606delinsTT (p.Ala869Phe)
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del) rs1596427937
NM_001271.4(CHD2):c.2667_2668insGTTTTG (p.Trp889_Asn890insValLeu) rs2141843225
NM_001271.4(CHD2):c.2670C>G (p.Asn890Lys)
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu) rs1567149946
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del) rs2053946125
NM_001271.4(CHD2):c.2764del (p.Glu922fs) rs2141844216
NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala)
NM_001271.4(CHD2):c.2809C>G (p.His937Asp) rs1596429174
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro) rs2053946404
NM_001271.4(CHD2):c.2816T>G (p.Val939Gly)
NM_001271.4(CHD2):c.2876+1G>T
NM_001271.4(CHD2):c.294+1G>T
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp) rs2141850669
NM_001271.4(CHD2):c.3237+1G>A
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
NM_001271.4(CHD2):c.3414-2A>G
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly) rs1596443241
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
NM_001271.4(CHD2):c.3542G>T (p.Cys1181Phe) rs2141861661
NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs) rs2054197493
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.381+1G>A rs2053081680
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu) rs2141867671
NM_001271.4(CHD2):c.3886-1G>C
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.4009-2A>G
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly) rs2141871764
NM_001271.4(CHD2):c.4137+2T>C
NM_001271.4(CHD2):c.4137+3A>G
NM_001271.4(CHD2):c.4278+1G>A rs2141873750
NM_001271.4(CHD2):c.4414-2A>G rs2141881521
NM_001271.4(CHD2):c.443+1G>A rs2141755359
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe) rs1596456893
NM_001271.4(CHD2):c.4906+1G>T rs2141888378
NM_001271.4(CHD2):c.692+1G>C rs1555439036
NM_001271.4(CHD2):c.693-1G>A rs2053387699
NM_001271.4(CHD2):c.693-3C>A rs2141785016
NM_001271.4(CHD2):c.789dup (p.Glu264Ter) rs2053388293

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.