ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p25.3(chr3:9393349-9956171)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 |
321 | 381 | |
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1023 | 1091 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 65 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 160 |
CAMK1 | - | - |
GRCh38 GRCh37 |
- | 83 | |
CIDEC | - | - |
GRCh38 GRCh37 |
47 | 112 | |
CPNE9 | - | - | - |
GRCh38 GRCh37 |
28 | 90 |
CRELD1 | - | - |
GRCh38 GRCh37 |
151 | 217 | |
IL17RC | - | - |
GRCh38 GRCh37 |
614 | 736 | |
IL17RE | - | - |
GRCh38 GRCh37 |
41 | 111 |
There are 40 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 | RCV000051481.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023