ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p21.33(chr6:31996089-32041483)x1
Germline
Classification
(1)
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 | |||
C4A | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
40 | 57 | |
C4B | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
40 | 57 | |
CYP21A2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
17 | 340 | |
LOC106780800 | - | - | - |
GRCh38 GRCh38 |
- | 296 |
LOC106780804 | - | - | - | GRCh38 | - | 9 |
LOC108004539 | - | - | - | GRCh38 | - | 9 |
LOC110631417 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 |
- | 24 |
TNXB | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
2326 | 2518 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Mar 8, 2011 | RCV000136232.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024