ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp11.4(chrX:39842449-40117345)x2
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
BCOR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
477 | 768 | |
LOC107985687 | - | - | - | GRCh38 | - | 73 |
LOC111556151 | - | - | - | GRCh38 | - | 72 |
LOC113875022 | - | - | - | GRCh38 | - | 71 |
LOC121627965 | - | - | - | GRCh38 | - | 71 |
LOC126863239 | - | - | - | GRCh38 | - | 214 |
LOC130068108 | - | - | - | GRCh38 | - | 71 |
LOC130068109 | - | - | - | GRCh38 | - | 71 |
LOC130068110 | - | - | - | GRCh38 | - | 71 |
LOC130068111 | - | - | - | GRCh38 | - | 71 |
There are 17 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Nov 30, 2010 | RCV000135380.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023