ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3(chr2:1110952-1699889)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 | |||
LOC102723730 | - | - | - | GRCh38 | - | 25 |
LOC122710286 | - | - | - | GRCh38 | - | 28 |
LOC126806102 | - | - | - |
GRCh38 GRCh38 |
- | 28 |
LOC126806103 | - | - | - | GRCh38 | - | 29 |
LOC126806104 | - | - | - | GRCh38 | - | 69 |
LOC129932981 | - | - | - | GRCh38 | - | 25 |
PXDN | - | - |
GRCh38 GRCh37 |
437 | 510 | |
SNTG2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
77 | 155 | |
TPO | - | - |
GRCh38 GRCh38 GRCh37 |
710 | 823 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052598.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023