ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q21.32(chr18:56590414-57506331)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
CCBE1 | - | - |
GRCh38 GRCh37 |
509 | 583 | |
CPLX4 | - | - |
GRCh38 GRCh37 |
3 | 76 | |
GRP | - | - |
GRCh38 GRCh37 |
5 | 79 | |
LMAN1 | - | - |
GRCh38 GRCh37 |
152 | 238 | |
RAX | - | - |
GRCh38 GRCh37 |
148 | 240 | |
SEC11C | - | - | - |
GRCh38 GRCh37 |
4 | 79 |
ZNF532 | - | - |
GRCh38 GRCh37 |
45 | 132 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 12, 2017 | RCV000684015.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022