ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3
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 | |||
C2orf50 | - | - | - |
GRCh38 GRCh37 |
- | 23 |
E2F6 | - | - |
GRCh38 GRCh37 |
13 | 44 | |
FLJ33534 | - | - | - | GRCh38 | - | 12 |
GREB1 | - | - |
GRCh38 GRCh37 |
157 | 192 | |
KCNF1 | - | - |
GRCh38 GRCh37 |
21 | 43 | |
LINC00276 | - | - | - | GRCh38 | 1 | 17 |
LINC00570 | - | - | - |
GRCh38 GRCh37 |
- | 31 |
LINC01954 | - | - | - | GRCh38 | - | 12 |
LOC100506405 | - | - | - | GRCh38 | - | 15 |
LOC100506474 | - | - | - | GRCh38 | - | 14 |
There are 90 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 27, 2010 | RCV000142512.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024