ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq24(chrX:119146025-119709342)
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 | |||
UBE2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
62 | 230 | |
KIAA1210 | - | - |
GRCh38 GRCh37 |
82 | 244 | |
LINC03098 | - | - | - | GRCh38 | - | 81 |
LOC114022705 | - | - | - | GRCh38 | - | 79 |
LOC125467776 | - | - | - | GRCh38 | - | 80 |
LOC125467777 | - | - | - | GRCh38 | - | 80 |
LOC125467778 | - | - | - | GRCh38 | - | 79 |
LOC130068586 | - | - | - | GRCh38 | - | 79 |
LOC130068587 | - | - | - | GRCh38 | - | 79 |
LOC130068588 | - | - | - | GRCh38 | - | 79 |
There are 30 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003883413.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 11, 2024