ClinVar Genomic variation as it relates to human health
NC_000022.11:g.(?_22638171)_(23320336_?)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 | |||
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
118 | 285 | |
GGTLC2 | - | - |
GRCh38 GRCh37 |
- | 125 | |
GNAZ | - | - |
GRCh38 GRCh37 |
- | 135 | |
IGL | - | - | - | GRCh38 | - | 227 |
IGLC1 | - | - |
GRCh38 GRCh37 |
- | 135 | |
IGLC2 | - | - | - | GRCh38 | - | 43 |
IGLC3 | - | - | - | GRCh38 | - | 43 |
IGLC7 | - | - | - | GRCh38 | - | 44 |
IGLJ1 | - | - | - | GRCh38 | - | 44 |
IGLJ2 | - | - | - | GRCh38 | - | 43 |
There are 77 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 | RCV000754257.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024