ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp22.33(chrX:10679-2777359)x1
Germline
Classification
(1)
Pathogenic
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 | |||
SHOX |
|
Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 |
159 | 356 |
AKAP17A |
|
- | - |
GRCh38 GRCh38 |
- | 110 |
ASMT |
|
- | - |
GRCh38 GRCh38 |
14 | 129 |
ASMTL |
|
- | - |
GRCh38 GRCh38 |
1 | 119 |
ASMTL-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 116 |
CD99 |
|
- | - |
GRCh38 GRCh38 |
2 | 106 |
CNE-2 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
1 | 128 |
CNE-3 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
2 | 126 |
CNE-5 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 121 |
CNE4 | - | - | - |
GRCh38 GRCh38 |
1 | 128 |
There are 24 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Oct 19, 2010 | RCV000136867.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024