ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3
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 | |||
NR3C2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
278 | 323 | |
AADAT | - | - |
GRCh38 GRCh37 |
4 | 62 | |
ANP32C | - | - |
GRCh38 GRCh37 |
- | 50 | |
ANXA10 | - | - |
GRCh38 GRCh37 |
16 | 73 | |
APELA | - | - | GRCh38 | 2 | 19 | |
ARFIP1 | - | - |
GRCh38 GRCh37 |
10 | 38 | |
ARHGAP10 | - | - |
GRCh38 GRCh37 |
49 | 89 | |
ASIC5 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 57 | |
C4orf46 | - | - |
GRCh38 GRCh37 |
2 | 47 | |
CBR4 | - | - |
GRCh38 GRCh37 |
10 | 702 |
There are 473 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051788.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023