ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3
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 |
399 | 423 | |
ADO | - | - |
GRCh38 GRCh37 |
11 | 31 | |
ARID5B | - | - |
GRCh38 GRCh37 |
64 | 93 | |
CABCOCO1 | - | - | - |
GRCh38 GRCh37 |
2 | 27 |
LINC00845 | - | - | - | GRCh38 | - | 7 |
LINC02621 | - | - | - | GRCh38 | - | 12 |
LOC111946249 | - | - | - | GRCh38 | - | 7 |
LOC116216113 | - | - | - | GRCh38 | - | 8 |
LOC121815942 | - | - | - | GRCh38 | - | 7 |
LOC124403962 | - | - | - | GRCh38 | - | 7 |
There are 70 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 11, 2013 | RCV000143288.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024