ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq22.1(chrX:100286152-100924659)x2
Germline
Classification
(1)
Uncertain significance
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 | |
CSTF2 | - | - |
GRCh38 GRCh37 |
17 | 186 | |
LOC121627976 | - | - | - | GRCh38 | - | 78 |
LOC121853062 | - | - | - | GRCh38 | - | 78 |
LOC125467768 | - | - | - | GRCh38 | - | 213 |
LOC125467769 | - | - | - | GRCh38 | - | 78 |
LOC130068484 | - | - | - | GRCh38 | - | 77 |
LOC130068485 | - | - | - | GRCh38 | - | 78 |
LOC130068486 | - | - | - | GRCh38 | - | 78 |
There are 10 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 2, 2012 | RCV000138284.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024