ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)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 | |||
CHM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
797 | 1025 | |
ZNF711 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
139 | 299 | |
APOOL | - | - |
GRCh38 GRCh37 |
19 | 168 | |
CYLC1 | - | - |
GRCh38 GRCh37 |
38 | 187 | |
DACH2 | - | - |
GRCh38 GRCh37 |
47 | 204 | |
HDX | - | - |
GRCh38 GRCh37 |
31 | 181 | |
LOC101928128 | - | - | - | GRCh38 | - | 77 |
LOC110120679 | - | - | - | GRCh38 | - | 77 |
LOC110120711 | - | - | - | GRCh38 | - | 76 |
LOC126863284 | - | - | - | GRCh38 | - | 76 |
There are 13 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051707.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023