ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)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 | |||
AADAT | - | - |
GRCh38 GRCh37 |
8 | 66 | |
ANP32C | - | - |
GRCh38 GRCh37 |
- | 50 | |
ANXA10 | - | - |
GRCh38 GRCh37 |
27 | 84 | |
APELA | - | - | GRCh38 | 2 | 19 | |
CBR4 | - | - |
GRCh38 GRCh37 |
17 | 772 | |
CBR4-DT | - | - | - | GRCh38 | - | 21 |
CLCN3 | - | - |
GRCh38 GRCh37 |
91 | 154 | |
CPE | - | - |
GRCh38 GRCh37 |
120 | 179 | |
DDX60 | - | - |
GRCh38 GRCh37 |
75 | 132 | |
DDX60L | - | - |
GRCh38 GRCh37 |
114 | 170 |
There are 150 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053326.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024