ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q26.3(chr10:135158728-135427143)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
CYP2E1 | - | - |
GRCh38 GRCh37 |
27 | 211 | |
ECHS1 | - | - |
GRCh38 GRCh37 |
293 | 460 | |
FUOM | - | - |
GRCh38 GRCh37 |
10 | 125 | |
MTG1 | - | - | - |
GRCh38 GRCh37 |
28 | 155 |
PAOX | - | - |
GRCh38 GRCh37 |
28 | 154 | |
PRAP1 | - | - |
GRCh38 GRCh37 |
- | 122 | |
SPRN | - | - |
GRCh38 GRCh37 |
30 | 148 | |
SYCE1 | - | - |
GRCh38 GRCh37 |
40 | 208 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 20, 2018 | RCV000847103.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022