ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp21.1(chrX:32419533-37487291)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 | |||
DMD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9076 | 9363 | |
CFAP47 | - | - |
GRCh38 GRCh37 |
34 | 202 | |
CXorf22 | - | - | - |
GRCh38 GRCh37 |
- | 57 |
CXorf30 | - | - | - |
GRCh38 GRCh37 |
- | 57 |
FAM47A | - | - | - |
GRCh38 GRCh37 |
63 | 212 |
FAM47B | - | - | - |
GRCh38 GRCh37 |
52 | 201 |
FAM47C | - | - |
GRCh38 GRCh37 |
73 | 219 | |
LANCL3 | - | - | - |
GRCh38 GRCh37 |
30 | 191 |
MAGEB16 | - | - |
GRCh38 GRCh37 |
17 | 164 | |
PRRG1 | - | - |
GRCh38 GRCh37 |
12 | 164 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 18, 2022 | RCV002473810.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022