ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)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 | |||
AADAT | - | - |
GRCh38 GRCh37 |
4 | 62 | |
ACSL1 | - | - |
GRCh38 GRCh37 |
24 | 136 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
36 | 111 | |
AGA | - | - |
GRCh38 GRCh37 |
515 | 613 | |
AGA-DT | - | - | - | GRCh38 | - | 49 |
ANKRD37 | - | - |
GRCh38 GRCh37 |
- | 139 | |
ANP32C | - | - |
GRCh38 GRCh37 |
- | 50 | |
ANXA10 | - | - |
GRCh38 GRCh37 |
16 | 73 | |
APELA | - | - | GRCh38 | 2 | 19 | |
ASB5 | - | - |
GRCh38 GRCh37 |
11 | 89 |
There are 527 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050649.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023