ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q21.11(chr7:82031869-82831385)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 | |||
CACNA2D1 | - | - |
GRCh38 GRCh37 |
823 | 904 | |
LOC110121310 | - | - | - | GRCh38 | - | 7 |
LOC126860088 | - | - | - | GRCh38 | - | 7 |
LOC126860089 | - | - | - | GRCh38 | - | 38 |
LOC129998727 | - | - | - | GRCh38 | - | 7 |
PCLO | - | - |
GRCh38 GRCh37 |
2722 | 2791 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 21, 2012 | RCV000139105.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024