ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq13.2(chrX:72024935-73087982)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 | |||
XIST | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
27 | 166 | |
CDX4 | - | - |
GRCh38 GRCh37 |
18 | 140 | |
CHIC1 | - | - |
GRCh38 GRCh37 |
13 | 136 | |
DMRTC1 | - | - |
GRCh38 GRCh37 |
5 | 130 | |
DMRTC1B | - | - | - |
GRCh38 GRCh37 |
- | 125 |
NAP1L2 | - | - |
GRCh38 GRCh37 |
22 | 146 | |
PABPC1L2A | - | - | - |
GRCh38 GRCh37 |
3 | 128 |
PABPC1L2B | - | - | - |
GRCh38 GRCh37 |
1 | 126 |
TSIX | - | - |
GRCh38 GRCh37 |
- | 138 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 5, 2022 | RCV002473834.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022