ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq22.2(chrX:103772099-104048812)x3
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 | |
H2BW1 | - | - |
GRCh38 GRCh37 |
31 | 208 | |
H2BW2 | - | - | - |
GRCh38 GRCh37 |
26 | 198 |
LOC126863297 | - | - | - | GRCh38 | - | 87 |
LOC130068514 | - | - | - | GRCh38 | - | 84 |
RAB9B | - | - |
GRCh38 GRCh37 |
3 | 590 | |
TMSB15B | - | - |
GRCh38 GRCh37 |
4 | 184 | |
TMSB15B-AS1 | - | - | - | GRCh38 | - | 85 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 17, 2012 | RCV000139706.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024