ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)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 | |||
APOC1 | - | - |
GRCh38 GRCh37 |
3 | 12 | |
APOC2 | - | - |
GRCh38 GRCh37 |
2 | 116 | |
APOC4 | - | - |
GRCh38 GRCh37 |
- | 16 | |
APOE | - | - |
GRCh38 GRCh37 |
175 | 194 | |
BCAM | - | - |
GRCh38 GRCh37 |
68 | 77 | |
BCL3 | - | - |
GRCh38 GRCh37 |
26 | 43 | |
BLOC1S3 | - | - |
GRCh38 GRCh37 |
170 | 209 | |
CADM4 | - | - |
GRCh38 GRCh37 |
9 | 19 | |
CALM3 | - | - |
GRCh38 GRCh37 |
157 | 178 | |
CBLC | - | - |
GRCh38 GRCh37 |
22 | 31 |
There are 113 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240182.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022