ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q21.1(chr2:130029216-130414455)x3
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 | |||
CCDC115 | - | - |
GRCh38 GRCh37 |
45 | 94 | |
CCDC74B | - | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 72 |
IMP4 | - | - |
GRCh38 GRCh37 |
31 | 74 | |
LOC129934761 | - | - | - |
GRCh38 GRCh38 |
- | 8 |
LOC129934763 | - | - | - |
GRCh38 GRCh38 |
- | 9 |
LOC129934764 | - | - | - |
GRCh38 GRCh38 |
- | 9 |
LOC129934765 | - | - | - |
GRCh38 GRCh38 |
- | 15 |
LOC129934766 | - | - | - |
GRCh38 GRCh38 |
- | 9 |
LOC129934767 | - | - | - |
GRCh38 GRCh38 |
- | 9 |
LOC129934768 | - | - | - | GRCh38 | - | 9 |
There are 14 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) |
|
Nov 30, 2010 | RCV000134227.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023