ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1
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 | |||
ADAM29 | - | - |
GRCh38 GRCh37 |
49 | 125 | |
AGA | - | - |
GRCh38 GRCh37 |
515 | 615 | |
AGA-DT | - | - | - | GRCh38 | - | 49 |
ASB5 | - | - |
GRCh38 GRCh37 |
20 | 99 | |
CEP44 | - | - |
GRCh38 GRCh37 |
22 | 93 | |
DCTD | - | - |
GRCh38 GRCh37 |
12 | 120 | |
FBXO8 | - | - |
GRCh38 GRCh37 |
10 | 80 | |
GLRA3 | - | - |
GRCh38 GRCh37 |
15 | 93 | |
GPM6A | - | - |
GRCh38 GRCh37 |
4 | 84 | |
GPM6A-DT | - | - | - | GRCh38 | - | 32 |
There are 95 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 | RCV000053354.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023