ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq26.1-26.2(chrX:131042072-131826589)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ARHGAP36 | - | - |
GRCh38 GRCh37 |
23 | 206 | |
FIRRE | - | - | GRCh38 | - | 88 | |
IGSF1 | - | - |
GRCh38 GRCh37 |
160 | 342 | |
LINC01201 | - | - | - | GRCh38 | - | 82 |
LOC113875010 | - | - | - | GRCh38 | - | 87 |
LOC113875011 | - | - | - | GRCh38 | - | 88 |
LOC121627979 | - | - | - | GRCh38 | - | 84 |
LOC121627980 | - | - | - | GRCh38 | - | 87 |
LOC121627981 | - | - | - | GRCh38 | - | 88 |
LOC126863318 | - | - | - | GRCh38 | - | 83 |
There are 23 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) |
|
Aug 12, 2011 | RCV000051730.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023