ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq21.31-22.1(chrX:87807750-100286152)x3
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 | |||
CPXCR1 | - | - |
GRCh38 GRCh37 |
25 | 173 | |
DIAPH2 | - | - |
GRCh38 GRCh37 |
67 | 256 | |
DIAPH2-AS1 | - | - | GRCh38 | - | 83 | |
FAM133A | - | - | - |
GRCh38 GRCh37 |
9 | 165 |
LINC03077 | - | - | - | GRCh38 | 1 | 79 |
LOC121853061 | - | - | - | GRCh38 | - | 77 |
LOC125467767 | - | - | - | GRCh38 | - | 74 |
LOC126863288 | - | - | - | GRCh38 | - | 79 |
LOC126863289 | - | - | - | GRCh38 | - | 73 |
LOC126863290 | - | - | - | GRCh38 | 2 | 77 |
There are 16 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 30, 2011 | RCV000141398.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023