ClinVar Genomic variation as it relates to human health
NC_000010.11:g.133403671_133556028dup
Germline
Classification
(1)
not provided
no classification 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 | |||
CYP2E1 | - | - |
GRCh38 GRCh37 |
29 | 215 | |
LOC110599585 | - | - | - | GRCh38 | - | 100 |
LOC126861107 | - | - | - | GRCh38 | - | 104 |
LOC129390242 | - | - | - | GRCh38 | - | 73 |
LOC130005032 | - | - | - | GRCh38 | - | 54 |
LOC130005033 | - | - | - | GRCh38 | - | 73 |
LOC130005034 | - | - | - | GRCh38 | - | 92 |
LOC130005035 | - | - | - | GRCh38 | - | 92 |
LOC130005036 | - | - | - | GRCh38 | - | 95 |
MTG1 | - | - | - |
GRCh38 GRCh37 |
31 | 158 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV000161616.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024