ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)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 | |||
PLP1 | Sufficient evidence for dosage pathogenicity | Sufficient evidence for dosage pathogenicity |
GRCh38 GRCh37 |
15 | 527 | |
BTK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
699 | 873 | |
GLA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 1238 | |
PCDH19 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1166 | 1469 | |
TIMM8A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
59 | 232 | |
NXF5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
77 | 235 | |
SRPX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
165 | 338 | |
ARL13A | - | - | - |
GRCh38 GRCh37 |
- | 169 |
ARMCX1 | - | - |
GRCh38 GRCh37 |
16 | 175 | |
ARMCX2 | - | - |
GRCh38 GRCh37 |
27 | 186 |
There are 125 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) |
|
Jul 18, 2014 | RCV000139979.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024