ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq21.31-22.1(chrX:91225162-101026774)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 | |||
PCDH19 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1166 | 1469 | |
SRPX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
165 | 338 | |
ARL13A | - | - | - |
GRCh38 GRCh37 |
- | 169 |
CSTF2 | - | - |
GRCh38 GRCh37 |
17 | 186 | |
DIAPH2 | - | - |
GRCh38 GRCh37 |
67 | 256 | |
DIAPH2-AS1 | - | - | GRCh38 | - | 83 | |
FAM133A | - | - | - |
GRCh38 GRCh37 |
9 | 165 |
LINC03077 | - | - | - | GRCh38 | 1 | 79 |
LOC121627976 | - | - | - | GRCh38 | - | 78 |
LOC121853062 | - | - | - | GRCh38 | - | 78 |
There are 36 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 10, 2012 | RCV000139915.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024