ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q21.11(chr7:78430626-82605557)
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 | |||
CACNA2D1 | - | - |
GRCh38 GRCh37 |
842 | 923 | |
CD36 | - | - |
GRCh38 GRCh37 |
238 | 261 | |
GNAI1 | - | - |
GRCh38 GRCh37 |
68 | 86 | |
GNAT3 | - | - |
GRCh38 GRCh37 |
24 | 45 | |
HGF | - | - |
GRCh38 GRCh37 |
237 | 260 | |
MAGI2 | - | - |
GRCh38 GRCh37 |
345 | 407 | |
PCLO | - | - |
GRCh38 GRCh37 |
2744 | 2815 | |
SEMA3C | - | - |
GRCh38 GRCh37 |
124 | 145 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053703.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022