ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)
Germline
Classification
(1)
Pathogenic
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 | |||
STS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
123 | 503 | |
PNPLA4 | - | - |
GRCh38 GRCh37 |
11 | 393 | |
PUDP | - | - |
GRCh38 GRCh37 |
22 | 402 | |
VCX | - | - |
GRCh38 GRCh37 |
6 | 361 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000415106.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022