ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1
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 | |||
NR2F1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
161 | 376 | |
ARB2A | - | - | - |
GRCh38 GRCh37 |
8 | 47 |
ARRDC3-AS1 | - | - | - | GRCh38 | - | 15 |
ARSK | - | - |
GRCh38 GRCh37 |
27 | 60 | |
CAST | - | - |
GRCh38 GRCh37 |
143 | 526 | |
ELL2 | - | - |
GRCh38 GRCh37 |
20 | 52 | |
ERAP1 | - | - |
GRCh38 GRCh37 |
102 | 246 | |
ERAP2 | - | - |
GRCh38 GRCh37 |
- | 86 | |
FAM81B | - | - | - |
GRCh38 GRCh37 |
21 | 52 |
GLRX | - | - |
GRCh38 GRCh37 |
5 | 36 |
There are 138 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 | RCV000053519.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023