ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3(chr2:888150-1784776)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 | |||
LINC01939 | - | - | - | GRCh38 | - | 33 |
LOC102723730 | - | - | - | GRCh38 | - | 25 |
LOC122710286 | - | - | - | GRCh38 | - | 28 |
LOC126806101 | - | - | - | GRCh38 | - | 30 |
LOC126806102 | - | - | - |
GRCh38 GRCh38 |
- | 28 |
LOC126806103 | - | - | - | GRCh38 | - | 29 |
LOC126806104 | - | - | - | GRCh38 | - | 69 |
LOC129932980 | - | - | - | GRCh38 | - | 32 |
LOC129932981 | - | - | - | GRCh38 | - | 25 |
PXDN | - | - |
GRCh38 GRCh37 |
437 | 510 |
There are 3 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) |
|
Sep 16, 2011 | RCV000141613.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024