Institute of Medical Genetics
(Medical University of Vienna), IMG
General information
Institute of Medical Genetics, IMG
Medical University of Vienna
Vienna
Austria
Organization ID: 507963
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 30
Gene
| Gene | Submissions | Last Updated |
|---|
| ANOS1 | 1 | Mar 15, 2021 |
| ATRIP | 1 | Mar 15, 2021 |
| ATRIP-TREX1 | 1 | Mar 15, 2021 |
| COL1A2 | 1 | Mar 15, 2021 |
| COL27A1 | 1 | Mar 15, 2021 |
| COL2A1 | 1 | Mar 15, 2021 |
| COL4A4 | 1 | Apr 21, 2023 |
| CUL7 | 1 | Mar 15, 2021 |
| DCC | 1 | Mar 15, 2021 |
| DUOX2 | 1 | Mar 15, 2021 |
| DUSP29 | 1 | Mar 15, 2021 |
| EXOC3L2 | 1 | Mar 15, 2021 |
| FRAS1 | 2 | Mar 15, 2021 |
| GLA | 1 | Apr 21, 2023 |
| GPC3 | 1 | Mar 15, 2021 |
| GUSB | 2 | Mar 15, 2021 |
| KAT6B | 1 | Mar 15, 2021 |
| KMT2D | 3 | Mar 15, 2021 |
| LOC126860055 | 1 | Mar 15, 2021 |
| MN1 | 1 | Mar 15, 2021 |
| MPDZ | 1 | Mar 15, 2021 |
| MYH6 | 1 | Mar 15, 2021 |
| NEB | 1 | Mar 15, 2021 |
| PKD1 | 2 | Mar 15, 2021 |
| RIF1 | 1 | Mar 15, 2021 |
| RPL36A-HNRNPH2 | 1 | Apr 21, 2023 |
| SF3B4 | 1 | Mar 15, 2021 |
| SLC26A2 | 1 | Mar 15, 2021 |
| TREX1 | 1 | Mar 15, 2021 |
| TUBA1A | 1 | Mar 15, 2021 |
| VANGL1 | 1 | Mar 15, 2021 |
Condition
| Name | Submissions | Last Updated | | 3M syndrome 1 | 1 | Mar 15, 2021 |
| Aicardi-Goutieres syndrome 1 | 1 | Mar 15, 2021 |
| Alport syndrome | 1 | Apr 21, 2023 |
| CEBALID syndrome | 1 | Mar 15, 2021 |
| Diastrophic dysplasia | 1 | Mar 15, 2021 |
| Fabry disease | 1 | Apr 21, 2023 |
| Fraser syndrome 1 | 2 | Mar 15, 2021 |
| Genitopatellar syndrome | 1 | Mar 15, 2021 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 1 | Mar 15, 2021 |
| Hypertrophic cardiomyopathy 14 | 1 | Mar 15, 2021 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 | Mar 15, 2021 |
| Kabuki syndrome 1 | 3 | Mar 15, 2021 |
| Lissencephaly due to TUBA1A mutation | 1 | Mar 15, 2021 |
| Meckel-Gruber-like syndrome | 1 | Mar 15, 2021 |
| Mirror movements 1 | 1 | Mar 15, 2021 |
| Mucopolysaccharidosis type 7 | 2 | Mar 15, 2021 |
| Nager syndrome | 1 | Mar 15, 2021 |
| Nemaline myopathy 2 | 1 | Mar 15, 2021 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Mar 15, 2021 |
| Platyspondylic dysplasia, Torrance type | 1 | Mar 15, 2021 |
| Polycystic kidney disease, adult type | 2 | Mar 15, 2021 |
| Sacral defect with anterior meningocele | 1 | Mar 15, 2021 |
| Simpson-Golabi-Behmel syndrome type 1 | 1 | Mar 15, 2021 |
| Steel syndrome | 1 | Mar 15, 2021 |
| Thyroid dyshormonogenesis 6 | 1 | Mar 15, 2021 |
