ClinVar Genomic variation as it relates to human health
NC_000001.11:g.173848142_174816147del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
DARS2 | - | - |
GRCh38 GRCh37 |
406 | 454 | |
GAS5 | - | - |
GRCh38 GRCh37 |
- | 44 | |
GAS5-AS1 | - | - | - | GRCh38 | - | 18 |
GPR52 | - | - |
GRCh38 GRCh37 |
- | 53 | |
LOC112577515 | - | - | - | GRCh38 | - | 14 |
LOC122149309 | - | - | - | GRCh38 | - | 20 |
LOC126805922 | - | - | - | GRCh38 | - | 18 |
LOC126805923 | - | - | - | GRCh38 | - | 25 |
LOC126805924 | - | - | - | GRCh38 | - | 32 |
LOC129388636 | - | - | - | GRCh38 | - | 22 |
There are 35 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV001779992.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024