ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q24.3(chr2:164220427-164906646)x1
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 | |||
COBLL1 | - | - |
GRCh38 GRCh37 |
78 | 108 | |
GRB14 | - | - |
GRCh38 GRCh37 |
50 | 78 | |
LOC101929633 | - | - | - | GRCh38 | - | 10 |
LOC111413009 | - | - | - | GRCh38 | - | 8 |
LOC112806057 | - | - | - | GRCh38 | - | 8 |
LOC129935041 | - | - | - | GRCh38 | - | 8 |
LOC129935042 | - | - | - | GRCh38 | - | 8 |
SLC38A11 | - | - |
GRCh38 GRCh37 |
30 | 62 | |
SNORA70F | - | - | - | GRCh38 | - | 8 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 16, 2011 | RCV000137776.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024