ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)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 | |||
CD8B2 | - | - | - | GRCh38 | - | 16 |
ECRG4 | - | - |
GRCh38 GRCh37 |
3 | 26 | |
GACAT1 | - | - | - | GRCh38 | - | 12 |
LINC01593 | - | - | - | GRCh38 | - | 13 |
LINC01789 | - | - | - | GRCh38 | - | 13 |
LINC01885 | - | - | - | GRCh38 | - | 12 |
LINC01886 | - | - | - | GRCh38 | - | 12 |
LOC107305683 | - | - | - | GRCh38 | - | 8 |
LOC107305684 | - | - | - | GRCh38 | - | 9 |
LOC112695111 | - | - | - | GRCh38 | - | 11 |
There are 25 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
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052691.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024