ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684)
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 |
17 | 605 | |
BTK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
714 | 892 | |
GLA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 1255 | |
PCDH19 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1190 | 1496 | |
TIMM8A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
60 | 236 | |
NXF5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
81 | 240 | |
SRPX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
166 | 341 | |
ARL13A | - | - | - |
GRCh38 GRCh37 |
- | 171 |
ARMCX1 | - | - |
GRCh38 GRCh37 |
17 | 177 | |
ARMCX2 | - | - |
GRCh38 GRCh37 |
29 | 189 |
There are 55 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Apr 30, 2011 | RCV000447561.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024