ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_9703931)_(11078652_?)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 | |||
BRPF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
328 | 388 | |
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
670 | 957 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
830 | 2000 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 66 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 161 |
ATP2B2 | - | - |
GRCh38 GRCh37 |
390 | 433 | |
BRK1 | - | - |
GRCh38 GRCh37 |
25 | 168 | |
CAMK1 | - | - |
GRCh38 GRCh37 |
- | 83 | |
CIDEC | - | - |
GRCh38 GRCh37 |
47 | 112 | |
CPNE9 | - | - | - |
GRCh38 GRCh37 |
28 | 90 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 15, 2023 | RCV004582222.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024