ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q21.2-21.3(chr10:62191184-65348431)x1
Germline
Classification
(1)
Uncertain significance
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 |
400 | 424 | |
ADO | - | - |
GRCh38 GRCh37 |
12 | 32 | |
ANK3 | - | - |
GRCh38 GRCh37 |
1208 | 1260 | |
ARID5B | - | - |
GRCh38 GRCh37 |
72 | 102 | |
CABCOCO1 | - | - | - |
GRCh38 GRCh37 |
2 | 27 |
CDK1 | - | - |
GRCh38 GRCh37 |
6 | 30 | |
JMJD1C | - | - |
GRCh38 GRCh37 |
1289 | 1376 | |
NRBF2 | - | - |
GRCh38 GRCh37 |
15 | 33 | |
REEP3 | - | - |
GRCh38 GRCh37 |
15 | 33 | |
RHOBTB1 | - | - |
GRCh38 GRCh37 |
26 | 51 |
There are 3 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 19, 2018 | RCV001006330.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022