ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3
Germline
Classification
(1)
Uncertain significance
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 | 119 | |
APOC4 | - | - |
GRCh38 GRCh37 |
- | 19 | |
APOE | - | - |
GRCh38 GRCh37 |
189 | 208 | |
BCAM | - | - |
GRCh38 GRCh37 |
73 | 82 | |
BLOC1S3 | - | - |
GRCh38 GRCh37 |
172 | 213 | |
CBLC | - | - |
GRCh38 GRCh37 |
24 | 33 | |
CKM | - | - |
GRCh38 GRCh37 |
30 | 43 | |
CLASRP | - | - |
GRCh38 GRCh37 |
64 | 74 | |
CLPTM1 | - | - |
GRCh38 GRCh37 |
76 | 93 |
There are 16 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
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000239782.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022