ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp22.2(chrX:15360898-15685709)x2
Germline
Classification
(1)
Likely benign
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 | |||
ACE2 | - | - |
GRCh38 GRCh37 |
15 | 211 | |
ACE2-DT | - | - | - | GRCh38 | - | 83 |
BMX | - | - |
GRCh38 GRCh37 |
6 | 199 | |
CA5BP1-CA5B | - | - | - | GRCh38 | - | 106 |
CLTRN | - | - |
GRCh38 GRCh37 |
11 | 192 | |
LOC106799844 | - | - | - | GRCh38 | - | 83 |
LOC117134593 | - | - | - | GRCh38 | - | 83 |
LOC118966792 | - | - | - | GRCh38 | - | 83 |
LOC126863214 | - | - | - | GRCh38 | - | 84 |
LOC130067980 | - | - | - | GRCh38 | - | 83 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 21, 2012 | RCV000139559.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024