Department of Human Genetics (Hannover Medical School)
General information
Department of Human Genetics
Hannover Medical School
Carl Neuberg Str. 1
Hannover
Niedersachsen
Germany
https://www.mhh.de/humangenetik
Organization ID: 508447
Hannover Medical School
Carl Neuberg Str. 1
Hannover
Niedersachsen
Germany
https://www.mhh.de/humangenetik
Organization ID: 508447
Personnel
- Bernd Auber, Contact
Phone: +495118719
Email: auber.bernd@mh-hannover.de - Gunnar Schmidt, Contact
Phone: +495115322839
Email: Schmidt.Gunnar@mh-hannover.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 140
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCA3 | 2 | Mar 21, 2024 |
ACADM | 1 | Dec 8, 2022 |
ACVRL1 | 1 | Jan 20, 2023 |
ADAT3 | 1 | Sep 29, 2022 |
ADNP | 1 | May 19, 2023 |
ANKRD11 | 2 | Feb 7, 2024 |
AP1G1 | 1 | Jul 24, 2023 |
ARID1B | 2 | Nov 30, 2023 |
ATAD3A | 1 | Aug 25, 2022 |
AUTS2 | 1 | Oct 13, 2022 |
BARD1 | 1 | Jun 5, 2023 |
BCL11A | 1 | Apr 19, 2023 |
BRCA1 | 1 | Mar 30, 2022 |
BRCA2 | 1 | Apr 4, 2024 |
BRIP1 | 1 | Jun 9, 2023 |
C10orf67 | 1 | Feb 12, 2023 |
CACNA1A | 1 | Sep 12, 2022 |
CCDC39 | 1 | Aug 25, 2022 |
CDH23 | 1 | Jan 22, 2024 |
CEP290 | 2 | Aug 9, 2023 |
CFTR | 1 | Apr 18, 2023 |
CHD5 | 1 | Feb 2, 2024 |
CHD7 | 1 | Aug 29, 2023 |
CHD8 | 1 | Jun 15, 2023 |
CIB2 | 1 | May 10, 2023 |
CIC | 1 | Apr 19, 2023 |
CIMIP2B | 1 | Aug 9, 2023 |
COL1A1 | 1 | Jul 15, 2022 |
COL4A5 | 1 | Dec 6, 2023 |
COPA | 1 | Jul 6, 2023 |
CPA1 | 1 | Dec 8, 2022 |
CREBBP | 1 | Feb 14, 2023 |
DARS1 | 1 | Aug 25, 2022 |
DARS2 | 1 | Mar 27, 2024 |
DENND5A | 1 | Sep 14, 2023 |
DLL3 | 1 | Jun 28, 2023 |
DNAAF4 | 1 | Aug 15, 2023 |
DNAAF4-CCPG1 | 1 | Aug 15, 2023 |
DNAH11 | 3 | Sep 21, 2023 |
DNAH5 | 4 | Apr 4, 2024 |
DNAI2 | 1 | Jan 30, 2024 |
DNAJB2 | 1 | Mar 24, 2023 |
DRC1 | 1 | Jun 8, 2023 |
DYNC2H1 | 1 | Apr 14, 2023 |
EIF2AK4 | 1 | Nov 30, 2023 |
ELANE | 1 | Feb 13, 2023 |
EPHB6 | 1 | Mar 13, 2024 |
EXT1 | 2 | Feb 16, 2024 |
FECH | 1 | Aug 2, 2023 |
HR | 1 | Aug 17, 2022 |
HUWE1 | 1 | May 15, 2023 |
IL10RA | 1 | Feb 13, 2023 |
IL36RN | 1 | Sep 13, 2023 |
IL6ST | 1 | Aug 9, 2023 |
ILDR1 | 1 | Dec 6, 2023 |
IRF7 | 1 | Aug 24, 2023 |
IVD | 1 | May 5, 2023 |
KANSL1 | 2 | Apr 12, 2023 |
KCNT1 | 1 | Nov 30, 2023 |
KDM5B | 1 | Dec 22, 2023 |
KIT | 1 | Nov 9, 2023 |
KMT2E | 1 | Aug 15, 2022 |
LARP7 | 1 | Jun 15, 2023 |
LMX1A | 1 | May 31, 2023 |
LMX1A-AS2 | 1 | May 31, 2023 |
LOC115308161 | 1 | Nov 30, 2023 |
LOC125467768 | 1 | Jul 31, 2023 |
LOC126859961 | 1 | Apr 20, 2023 |
LOC126862264 | 1 | Jun 9, 2022 |
LPIN2 | 1 | Dec 12, 2023 |
MAGT1 | 1 | Jun 26, 2023 |
MEA1 | 1 | May 22, 2023 |
MED13 | 1 | Sep 11, 2023 |
MED13L | 1 | Feb 22, 2023 |
MEFV | 4 | Feb 13, 2023 |
MLH1 | 2 | Mar 14, 2024 |
MSH2 | 1 | Jun 9, 2022 |
MTM1 | 1 | Apr 28, 2023 |
MTTP | 1 | Feb 20, 2023 |
MYH3 | 1 | Dec 6, 2023 |
NALCN | 1 | Jun 16, 2023 |
NBEA | 1 | Feb 28, 2024 |
NIPBL | 1 | Feb 22, 2023 |
NLRP12 | 4 | Apr 12, 2024 |
ODAD1 | 1 | Jan 22, 2024 |
OTOG | 1 | Apr 10, 2024 |
PAFAH1B3 | 1 | Apr 19, 2023 |
PAX3 | 1 | Dec 6, 2023 |
PCDH19 | 1 | Jul 31, 2023 |
PEX1 | 1 | Oct 16, 2023 |
PIK3R1 | 2 | Sep 14, 2023 |
PKD1 | 6 | Mar 19, 2024 |
PLCG2 | 1 | Jul 10, 2023 |
PPP2R5D | 1 | May 22, 2023 |
PRSS12 | 1 | May 3, 2023 |
PSAP | 1 | Jan 22, 2024 |
PTPRQ | 1 | Jul 6, 2023 |
RAD51D | 3 | Mar 3, 2023 |
RAD51L3-RFFL | 3 | Mar 3, 2023 |
RARS1 | 1 | Jan 9, 2024 |
RET | 1 | Feb 1, 2022 |
RSPH4A | 1 | Aug 25, 2022 |
RUSC2 | 1 | Aug 9, 2023 |
RYR1 | 1 | Nov 9, 2023 |
SCAMP4 | 1 | Sep 29, 2022 |
SCN1A | 1 | Nov 30, 2023 |
SH2D7 | 1 | May 10, 2023 |
SHANK2 | 1 | May 12, 2023 |
SI | 1 | Mar 24, 2023 |
SPG7 | 1 | Mar 13, 2023 |
SPTBN1 | 1 | Apr 21, 2023 |
STING1 | 1 | Aug 31, 2022 |
SYNE1 | 1 | Dec 6, 2023 |
TBCEL-TECTA | 3 | Apr 27, 2023 |
TECTA | 3 | Apr 27, 2023 |
TJP2 | 1 | Aug 25, 2022 |
TMEM41B | 1 | Sep 14, 2023 |
TMPRSS3 | 1 | Apr 27, 2023 |
TNFRSF13B | 1 | Jun 15, 2023 |
TP53 | 1 | Apr 12, 2023 |
TPK1 | 1 | Mar 13, 2023 |
TRIO | 1 | Nov 9, 2023 |
TRPV6 | 1 | Mar 13, 2024 |
TTN | 1 | Apr 4, 2024 |
TTN-AS1 | 1 | Apr 4, 2024 |
UMPS | 1 | Jan 16, 2024 |
USP7 | 1 | May 15, 2023 |
VPS13B | 1 | Sep 19, 2023 |
ZNF148 | 1 | Jul 12, 2023 |