ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp22.33(chrX:1027415-1702424)x3
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 | |||
AKAP17A |
|
- | - |
GRCh38 GRCh38 |
- | 110 |
ASMT |
|
- | - |
GRCh38 GRCh38 |
13 | 128 |
ASMTL |
|
- | - |
GRCh38 GRCh38 |
1 | 119 |
ASMTL-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 116 |
CRLF2 |
|
- | - |
GRCh38 GRCh38 |
16 | 141 |
CSF2RA |
|
- | - |
GRCh38 GRCh38 |
426 | 553 |
IL3RA |
|
- | - |
GRCh38 GRCh38 |
4 | 123 |
LINC00106 | - | - | - |
GRCh38 GRCh38 |
- | 117 |
MIR3690 | - | - | - |
GRCh38 GRCh38 |
- | 126 |
P2RY8 | - | - |
GRCh38 GRCh38 |
1 | 117 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 27, 2013 | RCV000139885.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024