ClinVar Genomic variation as it relates to human health
NC_000001.11:g.(?_242268256)_(243843190_?)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 | |||
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
173 | 338 | |
AKT3-IT1 | - | - | - |
GRCh38 GRCh38 |
- | 49 |
CEP170 | - | - |
GRCh38 GRCh38 GRCh37 |
87 | 191 | |
LINC01347 | - | - | - |
GRCh38 GRCh38 |
- | 45 |
LOC110120698 | - | - | - |
GRCh38 GRCh38 |
- | 50 |
LOC122152350 | - | - | - | GRCh38 | - | 45 |
LOC122152351 | - | - | - |
GRCh38 GRCh38 |
- | 53 |
LOC122152352 | - | - | - |
GRCh38 GRCh38 |
- | 54 |
LOC122152353 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
LOC126806071 | - | - | - | GRCh38 | - | 45 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 2, 2018 | RCV000817924.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023