ClinVar Genomic variation as it relates to human health
NC_000021.9:g.(?_38981673)_(41568791_?)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 | |||
DSCAM | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
208 | 299 | |
B3GALT5 | - | - |
GRCh38 GRCh37 |
2 | 78 | |
B3GALT5-AS1 | - | - | - | GRCh38 | - | 38 |
BACE2 | - | - |
GRCh38 GRCh37 |
32 | 117 | |
BRWD1 | - | - |
GRCh38 GRCh37 |
163 | 241 | |
BRWD1-AS1 | - | - | - | GRCh38 | - | 37 |
BRWD1-AS2 | - | - | - | GRCh38 | - | 37 |
DSCAM-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 38 |
DSCAM-IT1 | - | - | - |
GRCh38 GRCh38 |
- | 38 |
FAM3B | - | - |
GRCh38 GRCh37 |
7 | 84 |
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 | RCV000754228.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024