ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
AP1S2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
63 | 246 | |
NHS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
523 | 706 | |
ACE2 | - | - |
GRCh38 GRCh37 |
15 | 211 | |
BEND2 | - | - | - |
GRCh38 GRCh37 |
49 | 220 |
BMX | - | - |
GRCh38 GRCh37 |
6 | 199 | |
CA5B | - | - |
GRCh38 GRCh37 |
- | 203 | |
CLTRN | - | - |
GRCh38 GRCh37 |
11 | 192 | |
CTPS2 | - | - |
GRCh38 GRCh37 |
17 | 191 | |
GRPR | - | - |
GRCh38 GRCh37 |
25 | 206 | |
INE2 | - | - |
GRCh38 GRCh37 |
- | 180 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 16, 2018 | RCV001007265.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022