ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
92 | 205 | |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
54 | 156 |
IGL | - | - | - | GRCh38 | - | 239 |
IGLV1-36 | - | - | - | GRCh38 | - | 35 |
IGLV1-40 | - | - | - | GRCh38 | - | 35 |
IGLV1-44 | - | - | - | GRCh38 | - | 35 |
IGLV1-47 | - | - | - | GRCh38 | - | 35 |
IGLV1-50 | - | - | - | GRCh38 | - | 35 |
IGLV1-51 | - | - | - | GRCh38 | - | 35 |
IGLV10-54 | - | - | - | GRCh38 | - | 38 |
There are 72 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 (2) |
|
Aug 12, 2011 | RCV000051147.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024