ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq21.31-22.1(chrX:90868186-99828437)x1
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 | |||
PCDH19 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1183 | 1489 | |
DIAPH2 | - | - |
GRCh38 GRCh37 |
70 | 260 | |
FAM133A | - | - | - |
GRCh38 GRCh37 |
9 | 166 |
NAP1L3 | - | - |
GRCh38 GRCh37 |
28 | 184 | |
PCDH11X | - | - |
GRCh38 GRCh37 |
82 | 235 | |
RPA4 | - | - |
GRCh38 GRCh37 |
- | 180 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV002287575.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2022