ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp21.1-11.4(chrX:31665506-37921988)x0
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 | |||
CYBB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
685 | 864 | |
DMD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9076 | 9363 | |
CFAP47 | - | - |
GRCh38 GRCh37 |
34 | 202 | |
DYNLT3 | - | - |
GRCh38 GRCh37 |
6 | 159 | |
FAM47A | - | - | - |
GRCh38 GRCh37 |
63 | 212 |
FAM47B | - | - | - |
GRCh38 GRCh37 |
52 | 201 |
FAM47C | - | - |
GRCh38 GRCh37 |
73 | 219 | |
LANCL3 | - | - | - |
GRCh38 GRCh37 |
30 | 191 |
LOC101928627 | - | - | - | GRCh38 | - | 78 |
LOC121627964 | - | - | - | GRCh38 | - | 75 |
There are 16 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 | RCV000053080.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023