ClinVar Genomic variation as it relates to human health
NC_000016.10:g.(?_78278583)_(80589366_?)del
Germline
Classification
(1)
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 | |||
DYNLRB2 | - | - |
GRCh38 GRCh37 |
- | 58 | |
DYNLRB2-AS1 | - | - | - | GRCh38 | - | 31 |
LINC01227 | - | - | - | GRCh38 | - | 21 |
LINC01228 | - | - | - | GRCh38 | - | 21 |
LINC01229 | - | - | - | GRCh38 | - | 21 |
LOC101928230 | - | - | - | GRCh38 | - | 21 |
LOC110120569 | - | - | - | GRCh38 | - | 21 |
LOC110120570 | - | - | - | GRCh38 | - | 29 |
LOC111365156 | - | - | - | GRCh38 | - | 20 |
LOC111365213 | - | - | - | GRCh38 | - | 21 |
There are 39 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2018 | RCV000811355.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023