ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)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 | |||
BRWD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
637 | 773 | |
CHM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
785 | 1011 | |
TBX22 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
105 | 236 | |
ZNF711 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
132 | 291 | |
APOOL | - | - |
GRCh38 GRCh37 |
17 | 165 | |
CPXCR1 | - | - |
GRCh38 GRCh37 |
25 | 173 | |
CYLC1 | - | - |
GRCh38 GRCh37 |
34 | 182 | |
DACH2 | - | - |
GRCh38 GRCh37 |
43 | 199 | |
HDX | - | - |
GRCh38 GRCh37 |
28 | 177 | |
HMGN5 | - | - |
GRCh38 GRCh37 |
11 | 149 |
There are 32 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) |
|
Aug 12, 2011 | RCV000050772.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024