ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.2(chrX:15470776-15971875)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 | |||
AP1S2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
65 | 251 | |
ACE2 | - | - |
GRCh38 GRCh37 |
16 | 216 | |
BMX | - | - |
GRCh38 GRCh37 |
6 | 203 | |
CA5B | - | - |
GRCh38 GRCh37 |
- | 208 | |
CLTRN | - | - |
GRCh38 GRCh37 |
13 | 197 | |
INE2 | - | - |
GRCh38 GRCh37 |
- | 183 | |
PIR | - | - |
GRCh38 GRCh37 |
- | 194 | |
ZRSR2 | - | - |
GRCh38 GRCh37 |
23 | 207 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 25, 2022 | RCV003485278.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024