ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CYBB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
686 | 867 | |
DMD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9305 | 9598 | |
GK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
71 | 248 | |
IL1RAPL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
287 | 456 | |
NR0B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
349 | 515 | |
CFAP47 | - | - |
GRCh38 GRCh37 |
45 | 204 | |
DYNLT3 | - | - |
GRCh38 GRCh37 |
7 | 162 | |
FAM47A | - | - | - |
GRCh38 GRCh37 |
68 | 219 |
FAM47B | - | - | - |
GRCh38 GRCh37 |
60 | 211 |
FAM47C | - | - |
GRCh38 GRCh37 |
79 | 227 |
There are 56 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
|
Uncertain significance (1) |
|
Jul 18, 2014 | RCV000143685.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024