ClinVar Genomic variation as it relates to human health
NC_000022.11:g.(?_21956007)_(22224188_?)del
Germline
Classification
(1)
Likely 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 | |||
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 197 | |
IGL | - | - | - | GRCh38 | - | 227 |
IGLV10-54 | - | - | - | GRCh38 | - | 38 |
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 |
There are 12 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 20, 2018 | RCV000754254.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024