ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3
Germline
Classification
(1)
Likely 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 | |||
BTK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
702 | 876 | |
GLA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 1239 | |
TIMM8A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
59 | 232 | |
SRPX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
165 | 338 | |
ARL13A | - | - | - |
GRCh38 GRCh37 |
- | 169 |
ARMCX4 | - | - |
GRCh38 GRCh37 |
6 | 169 | |
CENPI | - | - |
GRCh38 GRCh37 |
25 | 190 | |
CSTF2 | - | - |
GRCh38 GRCh37 |
17 | 186 | |
DRP2 | - | - |
GRCh38 GRCh37 |
417 | 582 | |
HNRNPH2 | - | - |
GRCh38 GRCh37 |
- | 201 |
There are 10 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 31, 2017 | RCV000585467.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 24, 2022