ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)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 | |||
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
126 | 294 | |
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
91 | 204 | |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
54 | 156 |
GGTLC2 | - | - |
GRCh38 GRCh37 |
- | 126 | |
GNAZ | - | - |
GRCh38 GRCh37 |
- | 135 | |
IGL | - | - | - | GRCh38 | - | 239 |
IGLC1 | - | - |
GRCh38 GRCh37 |
- | 136 | |
IGLC2 | - | - | - | GRCh38 | - | 43 |
IGLC3 | - | - | - | GRCh38 | - | 43 |
IGLC7 | - | - | - | GRCh38 | - | 44 |
There are 160 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) |
|
Aug 12, 2011 | RCV000053108.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024