ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p25.1(chr2:11405245-12054698)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 |
13 | 44 | |
GREB1 | - | - |
GRCh38 GRCh37 |
157 | 192 | |
LINC00570 | - | - | - |
GRCh38 GRCh37 |
- | 31 |
LPIN1 | - | - |
GRCh38 GRCh37 |
601 | 704 | |
NTSR2 | - | - |
GRCh38 GRCh37 |
30 | 63 | |
ROCK2 | - | - |
GRCh38 GRCh37 |
64 | 107 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 16, 2018 | RCV000847022.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022