ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1
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 | |||
NR4A2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
114 | 150 | |
ACVR1 | - | - |
GRCh38 GRCh37 |
306 | 326 | |
ACVR1C | - | - |
GRCh38 GRCh37 |
45 | 68 | |
CCDC148 | - | - | - |
GRCh38 GRCh37 |
20 | 49 |
CCDC148-AS1 | - | - | - | GRCh38 | - | 14 |
CYTIP | - | - |
GRCh38 GRCh37 |
13 | 41 | |
ERMN | - | - |
GRCh38 GRCh37 |
20 | 47 | |
FLJ46875 | - | - | - | GRCh38 | - | 8 |
GALNT13 | - | - |
GRCh38 GRCh37 |
16 | 41 | |
GALNT13-AS1 | - | - | - | GRCh38 | - | 9 |
There are 66 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) |
|
Sep 21, 2012 | RCV000142963.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023