Institute of Human Genetics (Heidelberg University), IHG
General information
Institute of Human Genetics, IHG
Heidelberg University
Im Neuenheimer Feld (INF) 366
Heidelberg
Baden-Wurttemberg
Germany - 69120
https://www.klinikum.uni-heidelberg.de/Institute-of-Human-Genetics.5035.0.html
Organization ID: 506821
Heidelberg University
Im Neuenheimer Feld (INF) 366
Heidelberg
Baden-Wurttemberg
Germany - 69120
https://www.klinikum.uni-heidelberg.de/Institute-of-Human-Genetics.5035.0.html
Organization ID: 506821
Personnel
- Katrin Hinderhofer, Lab Director
Phone: ++49(0)6221 56 32484
Email: Lab.Mol@med.uni-heidelberg.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 86
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS2 | 2 | Jun 28, 2023 |
| ACTA2 | 1 | Apr 16, 2024 |
| ACTB | 1 | Dec 20, 2023 |
| ANKRD11 | 1 | Aug 1, 2022 |
| AP4M1 | 1 | Sep 28, 2023 |
| APOB | 1 | Apr 16, 2024 |
| ARID1B | 1 | Apr 16, 2024 |
| AUTS2 | 2 | Jun 30, 2021 |
| BRCA2 | 1 | Jun 28, 2023 |
| CACNA1C | 1 | Apr 16, 2024 |
| CC2D2A | 1 | Aug 1, 2022 |
| CDK5RAP2 | 1 | Mar 26, 2024 |
| CEP290 | 1 | Apr 16, 2024 |
| CERS1 | 1 | Apr 16, 2024 |
| CHD3 | 1 | Apr 16, 2024 |
| CHEK2 | 1 | Nov 29, 2022 |
| CIC | 1 | Sep 28, 2023 |
| COL4A1 | 1 | Mar 9, 2022 |
| CTCF | 1 | Mar 9, 2022 |
| DDX3X | 1 | Mar 9, 2022 |
| DES | 1 | Apr 16, 2024 |
| DLG4 | 1 | Apr 16, 2024 |
| ELANE | 1 | Oct 26, 2021 |
| ENG | 1 | Apr 16, 2024 |
| EXT2 | 1 | Jun 28, 2023 |
| FLNC | 2 | Apr 16, 2024 |
| FLNC-AS1 | 2 | Apr 16, 2024 |
| FOXP1 | 1 | Apr 16, 2024 |
| GATAD2B | 1 | Apr 16, 2024 |
| GCK | 1 | Oct 26, 2021 |
| GDF1 | 1 | Apr 16, 2024 |
| IRF2BPL | 1 | Jun 28, 2023 |
| KCNB1 | 1 | Dec 20, 2023 |
| KCNN2 | 1 | Apr 16, 2024 |
| KCNQ2 | 1 | Apr 16, 2024 |
| KDM3B | 1 | Dec 20, 2023 |
| KIF5C | 1 | Apr 16, 2024 |
| KMT2A | 1 | Apr 16, 2024 |
| KMT2D | 1 | Apr 16, 2024 |
| LOC102724058 | 1 | Jun 28, 2023 |
| LOC126806714 | 1 | Apr 16, 2024 |
| LOC130002813 | 1 | Mar 9, 2022 |
| MAP3K1 | 1 | Jun 28, 2023 |
| MECP2 | 1 | Nov 29, 2022 |
| MID1 | 1 | Mar 9, 2022 |
| MUTYH | 1 | Jun 28, 2023 |
| MYBPC1 | 1 | Nov 29, 2022 |
| MYBPC3 | 1 | Jun 28, 2023 |
| NAA15 | 1 | Jun 30, 2021 |
| PDE6H | 1 | Aug 1, 2022 |
| PIBF1 | 2 | Dec 19, 2018 |
| PKLR | 1 | Nov 29, 2022 |
| PKP2 | 1 | Apr 16, 2024 |
| PLK4 | 1 | Apr 16, 2024 |
| PLOD1 | 1 | Sep 28, 2023 |
| POGZ | 1 | Sep 28, 2023 |
| POLR1C | 2 | Jun 28, 2023 |
| POLR3B | 2 | Apr 16, 2024 |
| PRDM12 | 1 | Mar 9, 2022 |
| PURA | 1 | Apr 16, 2024 |
| RERE | 1 | Apr 16, 2024 |
| RET | 1 | Oct 30, 2023 |
| RHOBTB2 | 1 | Mar 26, 2024 |
| RYR1 | 1 | Nov 29, 2022 |
| SACS | 2 | Aug 1, 2022 |
| SALL4 | 1 | Mar 9, 2022 |
| SCN1A | 1 | Jun 28, 2023 |
| SCN5A | 1 | Nov 29, 2022 |
| SEC23B | 2 | Mar 9, 2022 |
| SHANK3 | 1 | Apr 16, 2024 |
| SMAD4 | 1 | Oct 26, 2021 |
| SMC1A | 1 | Apr 16, 2024 |
| SOS1 | 1 | Apr 16, 2024 |
| SOX9 | 1 | Jun 30, 2021 |
| SPTA1 | 1 | Mar 9, 2022 |
| SYNGAP1 | 1 | Aug 1, 2022 |
| SYNGAP1-AS1 | 1 | Aug 1, 2022 |
| TCAP | 1 | Apr 16, 2024 |
| TK2 | 1 | Oct 30, 2023 |
| TTN | 3 | Apr 16, 2024 |
| TTN-AS1 | 2 | Dec 20, 2023 |
| UPF1 | 1 | Apr 16, 2024 |
| WBP11 | 1 | Oct 30, 2023 |
| ZNF148 | 1 | Aug 1, 2022 |