ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)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 | |
ACSL1 | - | - |
GRCh38 GRCh37 |
35 | 147 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
49 | 126 | |
AGA | - | - |
GRCh38 GRCh37 |
525 | 625 | |
ANKRD37 | - | - |
GRCh38 GRCh37 |
- | 142 | |
ASB5 | - | - |
GRCh38 GRCh37 |
20 | 99 | |
CASP3 | - | - |
GRCh38 GRCh37 |
13 | 125 | |
CBR4 | - | - |
GRCh38 GRCh37 |
15 | 738 | |
CCDC110 | - | - |
GRCh38 GRCh37 |
39 | 180 | |
CDKN2AIP | - | - |
GRCh38 GRCh37 |
34 | 136 |
There are 57 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) |
|
Jul 18, 2017 | RCV000847360.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023