ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3
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 | |||
APOA1 | - | - |
GRCh38 GRCh37 |
101 | 317 | |
APOA1-AS | - | - | GRCh38 | - | 207 | |
APOA4 | - | - |
GRCh38 GRCh37 |
128 | 158 | |
APOA5 | - | - |
GRCh38 GRCh37 |
178 | 245 | |
APOC3 | - | - |
GRCh38 GRCh37 |
60 | 91 | |
BACE1 | - | - |
GRCh38 GRCh37 |
17 | 57 | |
BACE1-AS | - | - |
GRCh38 GRCh37 |
- | 30 | |
BUD13 | - | - | - |
GRCh38 GRCh37 |
57 | 76 |
BUD13-DT | - | - | - | GRCh38 | - | 5 |
CEP164 | - | - |
GRCh38 GRCh37 |
1262 | 1294 |
There are 82 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053640.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023