Inserm U 954 Nutrition-Génétique-Exposition aux risques environnementaux
General information
Personnel
- Jean Louis Gueant
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 71
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AMN | 2 | Aug 14, 2015 |
| BHMT | 1 | Aug 14, 2015 |
| CBLIF | 3 | Aug 14, 2015 |
| CBS | 1 | Aug 14, 2015 |
| CDC42BPB | 1 | Aug 14, 2015 |
| CUBN | 1 | Aug 14, 2015 |
| CYP26A1 | 1 | Aug 14, 2015 |
| DVL1 | 1 | Aug 14, 2015 |
| GLI3 | 1 | Aug 14, 2015 |
| LOC126861615 | 5 | Aug 14, 2015 |
| LOC130056553 | 1 | Aug 14, 2015 |
| MMAA | 1 | Aug 14, 2015 |
| MMAB | 1 | Aug 14, 2015 |
| MMACHC | 2 | Aug 14, 2015 |
| MTHFD1 | 1 | Aug 14, 2015 |
| MTHFR | 3 | Aug 14, 2015 |
| MVK | 1 | Aug 14, 2015 |
| PAH | 49 | Aug 14, 2015 |
| SLC6A19 | 1 | Aug 14, 2015 |
| TCN2 | 2 | Aug 14, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Classic homocystinuria | 1 | Aug 14, 2015 |
| Cobalamin C disease | 2 | Aug 14, 2015 |
| Hereditary intrinsic factor deficiency | 3 | Aug 14, 2015 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 3 | Aug 14, 2015 |
| Imerslund-Grasbeck syndrome | 3 | Aug 14, 2015 |
| Methylmalonic aciduria, cblB type | 2 | Aug 14, 2015 |
| Phenylketonuria | 49 | Aug 14, 2015 |
| Transcobalamin II deficiency | 2 | Aug 14, 2015 |
| not provided | 6 | Aug 14, 2015 |