ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1
Germline
Classification
(1)
Benign
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 | |||
CDR2 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 154 | |
CDR2-DT | - | - | - |
GRCh38 GRCh38 |
- | 33 |
EEF2K | - | - |
GRCh38 GRCh38 GRCh37 |
67 | 192 | |
LOC105371129 | - | - | - |
GRCh38 GRCh38 |
- | 35 |
LOC111562378 | - | - | - |
GRCh38 GRCh38 |
- | 35 |
LOC121587534 | - | - | - |
GRCh38 GRCh38 |
- | 35 |
LOC125146427 | - | - | - |
GRCh38 GRCh38 |
- | 35 |
LOC125146428 | - | - | - |
GRCh38 GRCh38 |
- | 35 |
LOC126862313 | - | - | - |
GRCh38 GRCh38 |
- | 35 |
LOC130058628 | - | - | - |
GRCh38 GRCh38 |
- | 35 |
There are 28 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
|
Benign (1) |
|
Jul 30, 2009 | RCV000050457.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024