ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq22.2(chrX:102615641-103309503)x1
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 | 603 | |
BEX3 | - | - |
GRCh38 GRCh37 |
1 | 169 | |
H2BW1 | - | - |
GRCh38 GRCh37 |
31 | 208 | |
H2BW2 | - | - | - |
GRCh38 GRCh37 |
26 | 198 |
MORF4L2 | - | - |
GRCh38 GRCh37 |
7 | 184 | |
RAB40A | - | - |
GRCh38 GRCh37 |
- | 196 | |
RAB9B | - | - |
GRCh38 GRCh37 |
3 | 588 | |
TCEAL1 | - | - |
GRCh38 GRCh37 |
22 | 201 | |
TCEAL3 | - | - | - |
GRCh38 GRCh37 |
8 | 185 |
TCEAL4 | - | - | - |
GRCh38 GRCh37 |
9 | 184 |
There are 2 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 |
---|---|---|---|---|
Early Onset Neurological Disease Trait
|
Pathogenic (1) |
|
- | RCV000993771.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022