ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1
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 | |||
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
126 | 294 | |
GNAZ | - | - |
GRCh38 GRCh37 |
- | 135 | |
IGL | - | - | - | GRCh38 | - | 239 |
IGLC1 | - | - |
GRCh38 GRCh37 |
- | 136 | |
IGLC2 | - | - | - | GRCh38 | - | 43 |
IGLC3 | - | - | - | GRCh38 | - | 43 |
IGLC7 | - | - | - | GRCh38 | - | 44 |
IGLJ1 | - | - | - | GRCh38 | - | 44 |
IGLJ2 | - | - | - | GRCh38 | - | 43 |
IGLJ3 | - | - | - | GRCh38 | - | 43 |
There are 73 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) |
|
Sep 27, 2013 | RCV000143461.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024