ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq22.2(chrX:103350804-104033500)x2
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 | |
BEX3 | - | - |
GRCh38 GRCh37 |
1 | 169 | |
H2BW1 | - | - |
GRCh38 GRCh37 |
31 | 208 | |
LINC02589 | - | - | - | GRCh38 | - | 81 |
LL0XNC01-250H12.3 | - | - | - | GRCh38 | - | 103 |
LOC113845781 | - | - | - | GRCh38 | - | 83 |
LOC126863295 | - | - | - | GRCh38 | - | 79 |
LOC126863296 | - | - | - | GRCh38 | - | 81 |
LOC126863297 | - | - | - | GRCh38 | - | 87 |
LOC129391309 | - | - | - | GRCh38 | - | 80 |
There are 20 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) |
|
Apr 30, 2010 | RCV000133951.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024