ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_80276057)_(83739925_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
SEMA3A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
223 | 255 | |
CACNA2D1 | - | - |
GRCh38 GRCh37 |
825 | 906 | |
CD36 | - | - |
GRCh38 GRCh37 |
234 | 257 | |
HGF | - | - |
GRCh38 GRCh37 |
234 | 257 | |
PCLO | - | - |
GRCh38 GRCh37 |
2724 | 2793 | |
SEMA3C | - | - |
GRCh38 GRCh37 |
118 | 139 | |
SEMA3E | - | - |
GRCh38 GRCh37 |
690 | 715 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 14, 2021 | RCV001960659.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023