ClinVar Miner

List of variants in gene OCRL 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: 23
Download table as spreadsheet
HGVS dbSNP
NC_000023.11:g.(129551601)_129559858del
NC_000023.11:g.129569295C>T
NM_000276.3(OCRL):c.-165-?_*2286+?del
NM_000276.3(OCRL):c.-165-?_199+?del
NM_000276.3(OCRL):c.-165-?_238+?del
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) rs1556346316
NM_000276.4(OCRL):c.1440_1441CT[1] (p.Asp480_Ser481insTer)
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.4(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) rs1182741031
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu)
NM_000276.4(OCRL):c.1979A>C (p.His660Pro)
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro)
NM_000276.4(OCRL):c.239-4023A>G rs1057515577
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) rs1569463775
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.674_675AT[1] (p.Ile226fs)
NM_000276.4(OCRL):c.860dup (p.Tyr288fs) rs1556345889
NM_000276.4(OCRL):c.940-11G>A rs776743373
OCRL, 112-BP DEL
OCRL:exon 6-12 del
Single allele

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.