ClinVar Miner

List of variants in gene KDM5C reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_004187.4(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.4(KDM5C):c.1353C>G (p.Ser451Arg) rs199422237
NM_004187.4(KDM5C):c.156G>T (p.Trp52Cys) rs886037836
NM_004187.4(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729
NM_004187.4(KDM5C):c.202dup (p.Arg68fs)
NM_004187.4(KDM5C):c.2080C>T (p.Arg694Ter) rs199422236
NM_004187.4(KDM5C):c.2172C>A (p.Cys724Ter) rs281860639
NM_004187.4(KDM5C):c.2191C>T (p.Leu731Phe) rs199422234
NM_004187.4(KDM5C):c.2296C>T (p.Arg766Trp) rs199422238
NM_004187.4(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004187.4(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.4(KDM5C):c.2622+2dup rs1057519393
NM_004187.4(KDM5C):c.3118C>T (p.Gln1040Ter) rs782246658
NM_004187.4(KDM5C):c.3442G>A (p.Val1148Met) rs782205045
NM_004187.4(KDM5C):c.3570_3573del (p.Gly1191fs) rs1569258293
NM_004187.4(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004187.4(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004187.4(KDM5C):c.767_768CT[1] (p.Leu257fs) rs1060499661
NM_004187.4(KDM5C):c.807del (p.Thr270fs) rs1569278313

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.