ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq13.1(chrX:71401787-71617388)x2
Germline
Classification
(1)
not provided
no classification 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 | |||
HDAC8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
315 | 449 | |
CITED1 | - | - |
GRCh38 GRCh37 |
16 | 139 | |
ERCC6L | - | - |
GRCh38 GRCh37 |
- | 160 | |
PIN4 | - | - |
GRCh38 GRCh37 |
8 | 170 | |
RPS4X | - | - |
GRCh38 GRCh37 |
6 | 130 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV001249396.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022