ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1
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 | |||
ACSL1 | - | - |
GRCh38 GRCh37 |
35 | 147 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
49 | 125 | |
AGA | - | - |
GRCh38 GRCh37 |
515 | 615 | |
AGA-DT | - | - | - | GRCh38 | - | 49 |
ANKRD37 | - | - |
GRCh38 GRCh37 |
- | 141 | |
ASB5 | - | - |
GRCh38 GRCh37 |
20 | 99 | |
CASP3 | - | - |
GRCh38 GRCh37 |
13 | 125 | |
CCDC110 | - | - |
GRCh38 GRCh37 |
39 | 178 | |
CDKN2AIP | - | - |
GRCh38 GRCh37 |
34 | 136 | |
CENPU | - | - |
GRCh38 GRCh37 |
30 | 149 |
There are 375 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) |
|
Mar 4, 2013 | RCV000143232.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024