ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1
Germline
Classification
(1)
Uncertain significance
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 | |
BEX2 | - | - |
GRCh38 GRCh37 |
20 | 182 | |
BEX3 | - | - |
GRCh38 GRCh37 |
1 | 169 | |
BEX4 | - | - |
GRCh38 GRCh37 |
10 | 171 | |
ESX1 | - | - |
GRCh38 GRCh37 |
40 | 202 | |
FAM199X | - | - | - |
GRCh38 GRCh37 |
6 | 171 |
H2BW1 | - | - |
GRCh38 GRCh37 |
31 | 208 | |
H2BW2 | - | - | - |
GRCh38 GRCh37 |
26 | 198 |
IL1RAPL2 | - | - |
GRCh38 GRCh37 |
33 | 220 | |
MORF4L2 | - | - |
GRCh38 GRCh37 |
7 | 184 |
There are 17 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
|
Uncertain significance (1) |
|
- | RCV000993773.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022