ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0
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 | |||
DMD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9322 | 9615 | |
GK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
71 | 248 | |
NR0B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
352 | 518 | |
FTHL17 | - | - |
GRCh38 GRCh37 |
11 | 179 | |
GK-AS1 | - | - | - | GRCh38 | - | 93 |
LOC108410393 | - | - | - | GRCh38 | - | 85 |
LOC113875019 | - | - | - | GRCh38 | - | 83 |
LOC116309149 | - | - | - | GRCh38 | - | 83 |
LOC116309150 | - | - | - | GRCh38 | - | 83 |
LOC121627963 | - | - | - | GRCh38 | - | 87 |
There are 29 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) |
|
Dec 22, 2010 | RCV000136548.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024