ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)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 | |||
ANP32C | - | - |
GRCh38 GRCh37 |
- | 50 | |
APELA | - | - | GRCh38 | 2 | 19 | |
CPE | - | - |
GRCh38 GRCh37 |
73 | 128 | |
FAM218A | - | - | - |
GRCh38 GRCh37 |
- | 53 |
FSTL5 | - | - |
GRCh38 GRCh37 |
57 | 105 | |
GK3 | - | - | GRCh38 | - | 17 | |
KLHL2 | - | - |
GRCh38 GRCh37 |
17 | 66 | |
LINC01179 | - | - | - | GRCh38 | - | 18 |
LOC101928052 | - | - | - | GRCh38 | - | 16 |
LOC112939922 | - | - | - | GRCh38 | - | 18 |
There are 56 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 | RCV000051791.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023