ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 |
294 | 351 | |
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
992 | 1058 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
802 | 1957 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 59 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 95 |
BRK1 | - | - |
GRCh38 GRCh37 |
25 | 165 | |
CAMK1 | - | - |
GRCh38 GRCh37 |
- | 74 | |
CIDEC | - | - |
GRCh38 GRCh37 |
40 | 102 | |
CPNE9 | - | - | - |
GRCh38 GRCh37 |
19 | 78 |
CRELD1 | - | - |
GRCh38 GRCh37 |
149 | 212 |
There are 73 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 13, 2012 | RCV000138535.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023