ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3
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 | |||
AADAT | - | - |
GRCh38 GRCh37 |
6 | 64 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
49 | 125 | |
AGA | - | - |
GRCh38 GRCh37 |
515 | 615 | |
ANP32C | - | - |
GRCh38 GRCh37 |
- | 50 | |
ANXA10 | - | - |
GRCh38 GRCh37 |
22 | 79 | |
ASB5 | - | - |
GRCh38 GRCh37 |
20 | 99 | |
C4orf45 | - | - | - |
GRCh38 GRCh37 |
- | 8 |
C4orf46 | - | - |
GRCh38 GRCh37 |
2 | 47 | |
CBR4 | - | - |
GRCh38 GRCh37 |
15 | 738 | |
CEP44 | - | - | - |
GRCh38 GRCh37 |
22 | 93 |
There are 52 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 16, 2018 | RCV000682475.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022