ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq22.3(chrX:105891235-106425782)x2
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
LOC111365174 | - | - | - | GRCh38 | - | 78 |
NRK | - | - |
GRCh38 GRCh37 |
76 | 240 | |
PWWP3B | - | - | - |
GRCh38 GRCh37 |
38 | 201 |
SERPINA7 | - | - |
GRCh38 GRCh37 |
46 | 210 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052442.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022