ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_8775563)_(9986075_?)dup
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 | |||
BRPF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
328 | 388 | |
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1033 | 1101 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 66 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 161 |
CAMK1 | - | - |
GRCh38 GRCh37 |
- | 83 | |
CAV3 | - | - |
GRCh38 GRCh37 |
102 | 444 | |
CIDEC | - | - |
GRCh38 GRCh37 |
47 | 112 | |
CPNE9 | - | - | - |
GRCh38 GRCh37 |
28 | 90 |
CRELD1 | - | - |
GRCh38 GRCh37 |
157 | 223 | |
IL17RC | - | - |
GRCh38 GRCh37 |
614 | 736 |
There are 12 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 14, 2021 | RCV001923348.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024