ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.2-13.3(chr4:69661413-70724847)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 | |||
SULT1B1 | - | - |
GRCh38 GRCh37 |
13 | 46 | |
SULT1E1 | - | - |
GRCh38 GRCh37 |
17 | 51 | |
UGT2A1 | - | - |
GRCh38 GRCh37 |
18 | 71 | |
UGT2A2 | - | - |
GRCh38 GRCh37 |
- | 53 | |
UGT2A3 | - | - |
GRCh38 GRCh38 GRCh37 |
30 | 73 | |
UGT2B10 | - | - |
GRCh38 GRCh38 GRCh37 |
46 | 75 | |
UGT2B11 | - | - |
GRCh38 GRCh37 |
- | 83 | |
UGT2B28 | - | - |
GRCh38 GRCh37 |
53 | 86 | |
UGT2B4 | - | - |
GRCh38 GRCh37 |
55 | 84 | |
UGT2B7 | - | - |
GRCh38 GRCh37 |
142 | 183 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 4, 2023 | RCV002473840.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024