ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.22(chr22:21981865-22202315)x3
Germline
Classification
(1)
Likely benign
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 | |||
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
92 | 205 | |
IGL | - | - | - | GRCh38 | - | 239 |
IGLV11-55 | - | - | - | GRCh38 | - | 43 |
IGLV4-60 | - | - | - | GRCh38 | - | 43 |
IGLV4-69 | - | - | - | GRCh38 | - | 46 |
IGLV6-57 | - | - | - | GRCh38 | - | 43 |
IGLV8-61 | - | - | - | GRCh38 | - | 44 |
LOC112694768 | - | - | - | GRCh38 | - | 45 |
LOC125424390 | - | - | - | GRCh38 | - | 43 |
LOC130067043 | - | - | - | GRCh38 | - | 46 |
There are 10 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
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000138625.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024