ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp22.33-22.31(chrX:2765636-6317066)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ARSL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
415 | 653 | |
NLGN4X | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
245 | 463 | |
ARSD | No evidence available | No evidence available |
GRCh38 GRCh37 |
54 | 292 | |
ARSD-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 230 |
ARSF | - | - |
GRCh38 GRCh37 |
50 | 283 | |
ARSH | - | - |
GRCh38 GRCh37 |
49 | 284 | |
GYG2 | - | - |
GRCh38 GRCh37 |
175 | 420 | |
LINC01546 | - | - | - | GRCh38 | - | 109 |
LOC101928201 | - | - | - | GRCh38 | - | 105 |
LOC105373156 | - | - | - | GRCh38 | - | 110 |
There are 36 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2010 | RCV000136749.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024