ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq22.1(chrX:98987165-100421459)x2
Germline
Classification
(1)
Uncertain significance
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 |
1169 | 1472 | |
SRPX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
165 | 338 | |
ARL13A | - | - | - |
GRCh38 GRCh37 |
- | 169 |
CENPI | - | - |
GRCh38 GRCh37 |
25 | 190 | |
CSTF2 | - | - |
GRCh38 GRCh37 |
17 | 186 | |
NOX1 | - | - |
GRCh38 GRCh37 |
41 | 212 | |
SYTL4 | - | - |
GRCh38 GRCh37 |
23 | 194 | |
TMEM35A | - | - | - |
GRCh38 GRCh37 |
2 | 168 |
TNMD | - | - |
GRCh38 GRCh37 |
15 | 180 | |
TRMT2B | - | - | - |
GRCh38 GRCh37 |
13 | 182 |
There are 2 more genes 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 14, 2017 | RCV000848726.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022