ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.2-25.1(chr2:6503572-7934538)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
CMPK2 | - | - |
GRCh38 GRCh37 |
20 | 65 | |
GRASLND | - | - | - | GRCh38 | - | 14 |
LINC00298 | - | - | - | GRCh38 | - | 13 |
LINC00487 | - | - | - | GRCh38 | - | 14 |
LINC01246 | - | - | - | GRCh38 | - | 14 |
LINC01871 | - | - | - | GRCh38 | - | 13 |
LOC100506274 | - | - | - | GRCh38 | - | 13 |
LOC101929452 | - | - | - | GRCh38 | - | 15 |
LOC101929551 | - | - | - | GRCh38 | - | 13 |
LOC110120665 | - | - | - | GRCh38 | - | 13 |
There are 23 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052626.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024