ClinVar Genomic variation as it relates to human health
NC_000003.12:g.(?_10052377)_(10149975_?)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 | |||
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
790 | 1944 | |
BRK1 | - | - |
GRCh38 GRCh37 |
25 | 165 | |
FANCD2 | - | - |
GRCh38 GRCh37 |
93 | 1821 | |
FANCD2OS | - | - | - |
GRCh38 GRCh37 |
5 | 571 |
LOC107303338 | - | - | - | GRCh38 | - | 1185 |
LOC107303339 | - | - | - | GRCh38 | - | 102 |
LOC107303340 | - | - | - | GRCh38 | - | 1107 |
LOC129936148 | - | - | - | GRCh38 | - | 30 |
LOC129936149 | - | - | - | GRCh38 | - | 27 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 31, 2019 | RCV000823975.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023