ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p21.32(chr6:32529565-32721089)x3
Germline
Classification
(1)
Likely benign
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 | |||
HLA-DQA1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
7 | 18 | |
HLA-DQB1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
5 | 16 | |
HLA-DQB1-AS1 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 3 |
HLA-DRB1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
32 | 47 | |
HLA-DRB5 | - | - |
GRCh38 GRCh37 |
16 | 31 | |
LOC102725019 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 |
- | 2 |
LOC128772278 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 |
- | 2 |
LOC128772279 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 2 |
LOC129996175 | - | - | - | GRCh38 | - | 3 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000138472.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024