ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.2(chrX:13948313-16844723)
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 |
64 | 247 | |
FANCB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
626 | 812 | |
PIGA | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
338 | 510 | |
ACE2 | - | - |
GRCh38 GRCh37 |
15 | 211 | |
ASB11 | - | - |
GRCh38 GRCh37 |
27 | 198 | |
ASB9 | - | - |
GRCh38 GRCh37 |
13 | 180 | |
BMX | - | - |
GRCh38 GRCh37 |
6 | 199 | |
CA5B | - | - |
GRCh38 GRCh37 |
- | 203 | |
CLTRN | - | - |
GRCh38 GRCh37 |
11 | 192 | |
CTPS2 | - | - |
GRCh38 GRCh37 |
17 | 191 |
There are 13 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) |
|
- | RCV003986236.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024