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 |