ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq12(chrX:66548368-66732217)x2
Germline
Classification
(1)
Uncertain significance
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 | |||
EDA2R | - | - |
GRCh38 GRCh37 |
42 | 183 | |
LOC126863269 | - | - | - | GRCh38 | - | 72 |
LOC126863270 | - | - | - | GRCh38 | - | 67 |
LOC130068387 | - | - | - | GRCh38 | - | 72 |
LOC130068388 | - | - | - | GRCh38 | - | 72 |
LOC130068389 | - | - | - | GRCh38 | - | 72 |
LOC130068390 | - | - | - | GRCh38 | - | 72 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000054196.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023