ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)
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 | |||
GNAS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
765 | 883 | |
ANKRD60 | - | - | - |
GRCh38 GRCh37 |
- | 17 |
APCDD1L | - | - | - |
GRCh38 GRCh37 |
52 | 72 |
ATP5F1E | - | - |
GRCh38 GRCh37 |
- | 55 | |
BMP7 | - | - |
GRCh38 GRCh37 |
90 | 113 | |
CIMIP1 | - | - |
GRCh38 GRCh37 |
2 | 19 | |
CTCFL | - | - |
GRCh38 GRCh37 |
56 | 73 | |
CTSZ | - | - |
GRCh38 GRCh37 |
22 | 41 | |
GNAS-AS1 | - | - |
GRCh38 GRCh37 |
- | 105 | |
LINC01711 | - | - | - |
GRCh38 GRCh37 |
- | 20 |
There are 17 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002052712.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023