ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)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 | |||
EGR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
399 | 423 | |
ADO | - | - |
GRCh38 GRCh37 |
12 | 32 | |
ANK3 | - | - |
GRCh38 GRCh37 |
1202 | 1254 | |
ARID5B | - | - |
GRCh38 GRCh37 |
67 | 97 | |
BICC1 | - | - |
GRCh38 GRCh37 |
237 | 271 | |
CABCOCO1 | - | - | - |
GRCh38 GRCh37 |
2 | 27 |
CCDC6 | - | - |
GRCh38 GRCh37 |
14 | 43 | |
CDK1 | - | - |
GRCh38 GRCh37 |
6 | 30 | |
CISD1 | - | - |
GRCh38 GRCh37 |
5 | 28 | |
FAM13C | - | - | - |
GRCh38 GRCh37 |
31 | 55 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 17, 2018 | RCV001006326.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022