ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)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 |
309 | 369 | |
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1006 | 1074 | |
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
662 | 946 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
823 | 1986 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 64 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 153 |
ATG7 | - | - |
GRCh38 GRCh37 |
66 | 123 | |
ATP2B2 | - | - |
GRCh38 GRCh37 |
377 | 420 | |
BRK1 | - | - |
GRCh38 GRCh37 |
25 | 168 | |
CAMK1 | - | - |
GRCh38 GRCh37 |
- | 80 |
There are 32 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) |
|
- | RCV003986402.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024