ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0
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 | |||
ARSL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
427 | 666 | |
NLGN4X | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
271 | 490 | |
SHOX |
|
Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 |
162 | 360 |
STS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
128 | 509 | |
VCX3A | No evidence available | Dosage sensitivity unlikely |
GRCh38 GRCh37 |
5 | 333 | |
ARSD | No evidence available | No evidence available |
GRCh38 GRCh37 |
61 | 301 | |
AKAP17A |
|
- | - |
GRCh38 GRCh38 |
- | 110 |
ARSD-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 232 |
ARSF | - | - |
GRCh38 GRCh37 |
55 | 289 | |
ARSH | - | - |
GRCh38 GRCh37 |
59 | 295 |
There are 88 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052967.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024