ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq22.1-22.2(chrX:101331999-102771372)
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 | |||
ARMCX5 | - | - |
GRCh38 GRCh37 |
- | 188 | |
ARMCX5-GPRASP2 | - | - | - |
GRCh38 GRCh37 |
- | 361 |
BEX1 | - | - |
GRCh38 GRCh37 |
9 | 167 | |
BEX2 | - | - |
GRCh38 GRCh37 |
20 | 182 | |
BEX3 | - | - |
GRCh38 GRCh37 |
1 | 169 | |
BEX4 | - | - |
GRCh38 GRCh37 |
10 | 171 | |
BEX5 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 163 | |
GPRASP1 | - | - |
GRCh38 GRCh37 |
- | 234 | |
GPRASP2 | - | - |
GRCh38 GRCh37 |
- | 223 | |
GPRASP3 | - | - |
GRCh38 GRCh37 |
- | 189 |
There are 13 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053165.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022