ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq28(chrX:149176559-149746198)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 | |||
IDS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
660 | 1572 | |
EOLA1 | - | - |
GRCh38 GRCh37 |
3 | 221 | |
EOLA1-DT | - | - | - | GRCh38 | - | 108 |
HSFX2 | - | - | - |
GRCh38 GRCh37 |
- | 221 |
HSFX3 | - | - | - | GRCh38 | - | 108 |
LOC106050102 | - | - | - | GRCh38 | - | 745 |
LOC106050103 | - | - | - | GRCh38 | - | 108 |
LOC109396974 | - | - | - | GRCh38 | - | 109 |
LOC121627983 | - | - | - | GRCh38 | - | 108 |
LOC122319696 | - | - | - | GRCh38 | 1 | 106 |
There are 15 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) |
|
Aug 5, 2013 | RCV000141986.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024