ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)
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 | |||
PCDH19 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1206 | 1514 | |
SRPX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
167 | 343 | |
CSTF2 | - | - |
GRCh38 GRCh37 |
19 | 191 | |
DIAPH2 | - | - |
GRCh38 GRCh37 |
70 | 261 | |
FAM133A | - | - | - |
GRCh38 GRCh37 |
9 | 167 |
NAP1L3 | - | - |
GRCh38 GRCh37 |
28 | 186 | |
NOX1 | - | - |
GRCh38 GRCh37 |
46 | 220 | |
RPA4 | - | - |
GRCh38 GRCh37 |
- | 181 | |
SYTL4 | - | - |
GRCh38 GRCh37 |
29 | 203 | |
TNMD | - | - |
GRCh38 GRCh37 |
17 | 185 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053160.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022