ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.32(chr20:58630473-58881669)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
GNAS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
750 | 864 | |
GNAS-AS1 | - | - |
GRCh38 GRCh37 |
- | 101 | |
LINC01711 | - | - | - |
GRCh38 GRCh37 |
- | 19 |
LOC101927932 | - | - | - | GRCh38 | - | 10 |
LOC105372695 | - | - | - | GRCh38 | - | 8 |
LOC125387311 | - | - | - | GRCh38 | - | 8 |
LOC130066257 | - | - | - | GRCh38 | - | 8 |
LOC130066258 | - | - | - | GRCh38 | - | 8 |
LOC130066259 | - | - | - | GRCh38 | - | 8 |
LOC130066260 | - | - | - | GRCh38 | - | 13 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Apr 16, 2013 | RCV000141642.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024