ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq21.1(chrX:78111751-78286034)x3
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 | |||
PGK1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
242 | 394 | |
CYSLTR1 | - | - |
GRCh38 GRCh37 |
20 | 161 | |
LOC126863282 | - | - | - | GRCh38 | - | 68 |
LOC129391305 | - | - | - | GRCh38 | - | 68 |
LOC130068465 | - | - | - | GRCh38 | - | 70 |
TAF9B | - | - |
GRCh38 GRCh37 |
12 | 159 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 21, 2012 | RCV000138789.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024