ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq22.2(chrX:102774255-103167770)x3
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 |
17 | 533 | |
MORF4L2 | - | - |
GRCh38 GRCh37 |
5 | 182 | |
RAB40A | - | - |
GRCh38 GRCh37 |
- | 191 | |
RAB9B | - | - |
GRCh38 GRCh37 |
2 | 517 | |
TCEAL1 | - | - |
GRCh38 GRCh37 |
22 | 201 | |
TCEAL3 | - | - | - |
GRCh38 GRCh37 |
8 | 185 |
TCEAL4 | - | - | - |
GRCh38 GRCh37 |
9 | 184 |
TMEM31 | - | - | - |
GRCh38 GRCh37 |
12 | 189 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240011.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022