ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3(chr2:3293776-3858635)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 | |||
ADI1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 45 | |
ALLC | - | - |
GRCh38 GRCh37 |
28 | 62 | |
COLEC11 | - | - |
GRCh38 GRCh37 |
92 | 127 | |
DCDC2C | - | - | - |
GRCh38 GRCh37 |
3 | 36 |
EIPR1 | - | - |
GRCh38 GRCh37 |
16 | 56 | |
LOC121725078 | - | - | - | GRCh38 | - | 18 |
LOC129932993 | - | - | - | GRCh38 | - | 20 |
LOC129932994 | - | - | - | GRCh38 | - | 20 |
LOC129932995 | - | - | - | GRCh38 | - | 20 |
LOC129932996 | - | - | - | GRCh38 | - | 20 |
There are 21 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 | RCV000052625.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023