ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:148782000-149715472)x3
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 | |||
EOLA2 | - | - | - |
GRCh38 GRCh37 |
6 | 202 |
HSFX1 | - | - | - |
GRCh38 GRCh37 |
- | 199 |
MAGEA11 | - | - |
GRCh38 GRCh37 |
18 | 232 | |
MAGEA8 | - | - |
GRCh38 GRCh37 |
- | 219 | |
MAGEA9 | - | - |
GRCh38 GRCh37 |
- | 194 | |
MAMLD1 | - | - |
GRCh38 GRCh37 |
98 | 296 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 22, 2022 | RCV003485331.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024