ClinVar Genomic variation as it relates to human health
NC_000010.11:g.133438843_133565298dup
Germline
Classification
(2)
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 |
27 | 211 | |
LOC110599585 | - | - | - | GRCh38 | - | 100 |
LOC126861107 | - | - | - | GRCh38 | - | 102 |
LOC129390242 | - | - | - | GRCh38 | - | 73 |
LOC130005033 | - | - | - | GRCh38 | - | 73 |
LOC130005034 | - | - | - | GRCh38 | - | 92 |
LOC130005035 | - | - | - | GRCh38 | - | 92 |
LOC130005036 | - | - | - | GRCh38 | - | 95 |
SCART1 | - | - | - | GRCh38 | - | 89 |
SYCE1 | - | - |
GRCh38 GRCh37 |
40 | 208 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV000161618.2 | |
not provided (1) |
|
- | RCV000161617.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024