ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq26.2-26.3(chrX:134476312-134805554)x3
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 | |||
HPRT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
232 | 428 | |
LINC00629 | - | - | - | GRCh38 | - | 85 |
LOC126863323 | - | - | - | GRCh38 | - | 84 |
LOC130068721 | - | - | - | GRCh38 | - | 85 |
LOC130068722 | - | - | - | GRCh38 | - | 85 |
LOC130068723 | - | - | - | GRCh38 | - | 85 |
LOC130068724 | - | - | - | GRCh38 | - | 85 |
LOC130068725 | - | - | - | GRCh38 | - | 85 |
MIR424 | - | - |
GRCh38 GRCh37 |
- | 172 | |
MIR450A1 | - | - | - | GRCh38 | - | 85 |
There are 8 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) |
|
Feb 28, 2010 | RCV000133770.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024