ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1
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 |
307 | 364 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
817 | 1975 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 61 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 150 |
BRK1 | - | - |
GRCh38 GRCh37 |
25 | 165 | |
CAMK1 | - | - |
GRCh38 GRCh37 |
- | 77 | |
CIDEC | - | - |
GRCh38 GRCh37 |
44 | 106 | |
CPNE9 | - | - | - |
GRCh38 GRCh37 |
26 | 85 |
CRELD1 | - | - |
GRCh38 GRCh37 |
150 | 213 | |
EMC3 | - | - |
GRCh38 GRCh37 |
6 | 62 |
There are 55 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051482.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024