ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p25.1(chr2:11410614-12054698)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 | |||
E2F6 | - | - |
GRCh38 GRCh37 |
11 | 42 | |
GREB1 | - | - |
GRCh38 GRCh37 |
137 | 172 | |
LINC00570 | - | - | - |
GRCh38 GRCh37 |
- | 31 |
LPIN1 | - | - |
GRCh38 GRCh37 |
598 | 701 | |
NTSR2 | - | - |
GRCh38 GRCh37 |
27 | 60 | |
ROCK2 | - | - |
GRCh38 GRCh37 |
62 | 102 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 4, 2019 | RCV001259158.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022