ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq22.2(chrX:102742391-103109211)x2
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |
MORF4L2 | - | - |
GRCh38 GRCh37 |
5 | 181 | |
RAB40A | - | - |
GRCh38 GRCh37 |
- | 190 | |
RAB9B | - | - |
GRCh38 GRCh37 |
2 | 513 | |
TCEAL1 | - | - |
GRCh38 GRCh37 |
21 | 199 | |
TCEAL3 | - | - | - |
GRCh38 GRCh37 |
8 | 184 |
TCEAL4 | - | - | - |
GRCh38 GRCh37 |
9 | 183 |
TMEM31 | - | - | - |
GRCh38 GRCh37 |
12 | 188 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 2, 2021 | RCV001007329.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022