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: [email protected] - Gunnar Schmidt, Contact
Phone: +495115322839
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 345
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA3 | 2 | Mar 21, 2024 |
| ABCA4 | 3 | Jul 30, 2024 |
| ACADM | 1 | Dec 8, 2022 |
| ACE | 1 | Sep 27, 2024 |
| ACVRL1 | 1 | Jan 20, 2023 |
| ADAT3 | 1 | Sep 29, 2022 |
| ADGRL1 | 1 | Apr 29, 2024 |
| ADGRL1-AS1 | 1 | Apr 29, 2024 |
| ADNP | 1 | May 19, 2023 |
| ALDH7A1 | 1 | Oct 8, 2024 |
| ANK3 | 2 | Oct 11, 2024 |
| ANKRD11 | 3 | Jul 9, 2024 |
| ANO5 | 2 | Aug 19, 2024 |
| AP1G1 | 1 | Jul 24, 2023 |
| APC | 1 | Sep 24, 2024 |
| APC2 | 1 | Jul 30, 2024 |
| ARID1B | 2 | Nov 30, 2023 |
| ARMC5 | 1 | Jul 3, 2024 |
| ASL | 2 | Jul 30, 2024 |
| ATAD3A | 1 | Aug 25, 2022 |
| ATM | 13 | Nov 4, 2024 |
| ATP1A3 | 1 | Oct 29, 2024 |
| ATP2A2 | 1 | Jul 30, 2024 |
| ATP7B | 1 | Jun 5, 2024 |
| AUTS2 | 1 | Oct 13, 2022 |
| BARD1 | 2 | Oct 9, 2024 |
| BCL11A | 1 | Apr 19, 2023 |
| BMPR2 | 1 | Jun 11, 2024 |
| BRCA1 | 11 | Oct 18, 2024 |
| BRCA2 | 18 | Sep 17, 2024 |
| BRIP1 | 3 | Sep 19, 2024 |
| C10orf67 | 1 | Feb 12, 2023 |
| C11orf65 | 3 | Sep 23, 2024 |
| CACNA1A | 1 | Sep 12, 2022 |
| CARS1 | 1 | Jul 22, 2024 |
| CCDC39 | 1 | Aug 25, 2022 |
| CDH1 | 3 | Sep 4, 2024 |
| CDH23 | 1 | Jan 22, 2024 |
| CEP290 | 2 | Aug 9, 2023 |
| CFAP300 | 1 | Sep 18, 2024 |
| CFTR | 1 | Apr 18, 2023 |
| CHD5 | 1 | Feb 2, 2024 |
| CHD7 | 1 | Aug 29, 2023 |
| CHD8 | 2 | Sep 6, 2024 |
| CHEK2 | 3 | Aug 9, 2024 |
| CIB2 | 1 | May 10, 2023 |
| CIC | 1 | Apr 19, 2023 |
| CIMIP2B | 1 | Aug 9, 2023 |
| COL11A2 | 1 | Oct 23, 2024 |
| COL1A1 | 1 | Jul 15, 2022 |
| COL4A4 | 1 | Jul 30, 2024 |
| COL4A5 | 2 | Jul 30, 2024 |
| COL6A2 | 1 | Jul 30, 2024 |
| COPA | 1 | Jul 6, 2023 |
| CPA1 | 1 | Dec 8, 2022 |
| CREB3L3 | 1 | Aug 21, 2024 |
| CREBBP | 1 | Feb 14, 2023 |
| CTNNA2 | 1 | Sep 4, 2024 |
| CYBB | 1 | Jul 19, 2024 |
| DARS1 | 1 | Aug 25, 2022 |
| DARS2 | 1 | Mar 27, 2024 |
| DCTN5 | 1 | Oct 15, 2024 |
| DCX | 1 | Sep 4, 2024 |
| DENND5A | 1 | Sep 14, 2023 |
| DLG3 | 1 | Jun 14, 2024 |
| DLL3 | 1 | Jun 28, 2023 |
| DNAAF4 | 1 | Aug 15, 2023 |
| DNAAF4-CCPG1 | 1 | Aug 15, 2023 |
| DNAH11 | 3 | Sep 21, 2023 |
| DNAH5 | 5 | Aug 9, 2024 |
| DNAI2 | 1 | Jan 30, 2024 |
| DNAJB2 | 1 | Mar 24, 2023 |
| DOCK7 | 1 | Jun 12, 2024 |
| DRC1 | 1 | Jun 8, 2023 |
| DYNC2H1 | 1 | Apr 14, 2023 |
| EDNRB | 1 | May 28, 2024 |
| EDNRB-AS1 | 1 | May 28, 2024 |
| EIF2AK4 | 1 | Nov 30, 2023 |
| EIF2S3 | 1 | Nov 4, 2024 |
| ELANE | 1 | Feb 13, 2023 |
| EPHB6 | 1 | Mar 13, 2024 |
| EXT1 | 3 | Jul 30, 2024 |
| FECH | 3 | Jul 30, 2024 |
| FGF8 | 2 | Jun 10, 2024 |
| FLNC | 1 | Nov 14, 2024 |
| GALK1 | 1 | Nov 15, 2024 |
| GATA2 | 1 | Jun 28, 2024 |
| GATA3 | 1 | Jul 18, 2024 |
| GCDH | 1 | Sep 5, 2024 |
| GJB1 | 1 | Sep 19, 2024 |
| GLA | 2 | Jul 9, 2024 |
| GRIN2D | 1 | Jul 5, 2024 |
| HNF1A | 1 | Aug 30, 2024 |
| HNRNPU | 1 | Jul 19, 2024 |
| HPGD | 1 | Jun 25, 2024 |
| HR | 1 | Aug 17, 2022 |
| HTT | 1 | Jun 11, 2024 |
| 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 |
| JAG1 | 1 | Jun 18, 2024 |
| JMJD8 | 1 | Jun 11, 2024 |
| KANSL1 | 2 | Apr 12, 2023 |
| KCNQ4 | 1 | Aug 26, 2024 |
| KCNT1 | 1 | Nov 30, 2023 |
| KDM5B | 2 | Oct 25, 2024 |
| KDM6B | 1 | Sep 6, 2024 |
| KIF11 | 1 | Jul 15, 2024 |
| KIT | 1 | Nov 9, 2023 |
| KMT2C | 1 | Sep 30, 2024 |
| KMT2E | 1 | Aug 15, 2022 |
| LAMA3 | 1 | May 8, 2024 |
| LAMC2 | 1 | Jun 20, 2024 |
| LARP7 | 1 | Jun 15, 2023 |
| LDLR | 1 | Jun 12, 2024 |
| 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 |
| LOC126861339 | 1 | Sep 26, 2024 |
| LOC126862264 | 1 | Jun 9, 2022 |
| LOC130062899 | 1 | Jul 15, 2024 |
| LOC130067357 | 1 | Nov 20, 2024 |
| LPIN2 | 1 | Dec 12, 2023 |
| LPL | 1 | Aug 21, 2024 |
| LRBA | 2 | Aug 5, 2024 |
| MAGT1 | 1 | Jun 26, 2023 |
| MAT1A | 1 | Jul 30, 2024 |
| MEA1 | 1 | May 22, 2023 |
| MECOM | 1 | Sep 12, 2024 |
| MED13 | 2 | Nov 15, 2024 |
| MED13L | 1 | Feb 22, 2023 |
| MEFV | 4 | Feb 13, 2023 |
| MEN1 | 1 | Apr 26, 2024 |
| MET | 1 | Aug 27, 2024 |
| MIR1225 | 1 | Oct 25, 2024 |
| MIR6857 | 1 | Jun 13, 2024 |
| MLH1 | 6 | Oct 2, 2024 |
| MMAA | 2 | Oct 15, 2024 |
| MSH2 | 4 | Aug 7, 2024 |
| MSH3 | 2 | Aug 15, 2024 |
| MSH6 | 4 | Sep 4, 2024 |
| MTM1 | 1 | Apr 28, 2023 |
| MTTP | 1 | Feb 20, 2023 |
| MUTYH | 1 | Aug 9, 2024 |
| MYH3 | 1 | Dec 6, 2023 |
| MYH7 | 1 | Oct 30, 2024 |
| NALCN | 1 | Jun 16, 2023 |
| NBEA | 1 | Feb 28, 2024 |
| NEU1 | 1 | Jul 8, 2024 |
| NF1 | 4 | Nov 15, 2024 |
| NIPBL | 1 | Feb 22, 2023 |
| NKX2-1 | 1 | Nov 20, 2024 |
| NKX2-1-AS1 | 1 | Nov 20, 2024 |
| NLRC4 | 1 | Nov 14, 2024 |
| NLRP12 | 4 | Apr 12, 2024 |
| NOTCH3 | 1 | Jul 30, 2024 |
| ODAD1 | 1 | Jan 22, 2024 |
| OTOG | 1 | Apr 10, 2024 |
| PAFAH1B3 | 1 | Apr 19, 2023 |
| PALB2 | 3 | Oct 15, 2024 |
| PAX3 | 1 | Dec 6, 2023 |
| PCDH19 | 1 | Jul 31, 2023 |
| PEX1 | 1 | Oct 16, 2023 |
| PIGV | 1 | Aug 26, 2024 |
| PIK3R1 | 2 | Sep 14, 2023 |
| PINK1 | 1 | May 30, 2024 |
| PKD1 | 10 | Oct 25, 2024 |
| PKD1-AS1 | 1 | Oct 25, 2024 |
| PKD2 | 2 | Aug 9, 2024 |
| PLCG2 | 1 | Jul 10, 2023 |
| PLS3 | 1 | Sep 23, 2024 |
| PMP22 | 1 | Jul 30, 2024 |
| PMS2 | 1 | Jun 7, 2024 |
| PNPLA8 | 1 | Jul 30, 2024 |
| PPM1D | 1 | Jun 7, 2024 |
| PPM1N | 1 | Jul 30, 2024 |
| PPOX | 1 | Oct 11, 2024 |
| PPP2R5D | 1 | May 22, 2023 |
| PRSS12 | 1 | May 3, 2023 |
| PSAP | 1 | Jan 22, 2024 |
| PTEN | 1 | Jun 21, 2024 |
| PTPRQ | 1 | Jul 6, 2023 |
| PYGM | 1 | Sep 19, 2024 |
| RAC2 | 1 | Nov 20, 2024 |
| RAD51C | 3 | Sep 25, 2024 |
| RAD51D | 3 | Mar 3, 2023 |
| RAD51L3-RFFL | 3 | Mar 3, 2023 |
| RARS1 | 1 | Jan 9, 2024 |
| RASSF1 | 1 | Nov 5, 2024 |
| RASSF1-AS1 | 1 | Nov 5, 2024 |
| RET | 1 | Feb 1, 2022 |
| RPL36A-HNRNPH2 | 2 | Jul 9, 2024 |
| RSPH3 | 1 | Jul 18, 2024 |
| RSPH4A | 1 | Aug 25, 2022 |
| RTN2 | 1 | Jul 30, 2024 |
| RUSC2 | 1 | Aug 9, 2023 |
| RYR1 | 2 | Oct 29, 2024 |
| SAMD9L | 1 | Jun 12, 2024 |
| SATB2 | 1 | Sep 20, 2024 |
| SCAMP4 | 1 | Sep 29, 2022 |
| SCN10A | 1 | Jun 10, 2024 |
| SCN1A | 2 | May 6, 2024 |
| SCN2A | 1 | Jun 27, 2024 |
| SDHD | 1 | Sep 26, 2024 |
| SERPING1 | 1 | Jul 30, 2024 |
| SFTA3 | 1 | Nov 20, 2024 |
| SFTPB | 1 | Oct 25, 2024 |
| SH2D7 | 1 | May 10, 2023 |
| SHANK2 | 1 | May 12, 2023 |
| SI | 1 | Mar 24, 2023 |
| SLC22A5 | 1 | Jul 18, 2024 |
| SLC38A8 | 2 | Oct 10, 2024 |
| SMC1A | 1 | Jun 13, 2024 |
| SPAG1 | 1 | Aug 30, 2024 |
| SPG7 | 1 | Mar 13, 2023 |
| SPTBN1 | 1 | Apr 21, 2023 |
| STAG2 | 1 | Oct 8, 2024 |
| STING1 | 1 | Aug 31, 2022 |
| STK11 | 1 | Jul 15, 2024 |
| STUB1 | 1 | Jun 11, 2024 |
| SYNE1 | 1 | Dec 6, 2023 |
| TBCEL-TECTA | 3 | Apr 27, 2023 |
| TCF3 | 1 | Jul 30, 2024 |
| TECTA | 3 | Apr 27, 2023 |
| TENM4 | 1 | Jul 30, 2024 |
| THSD4 | 1 | Jun 19, 2024 |
| TJP2 | 1 | Aug 25, 2022 |
| TMC1 | 1 | May 15, 2024 |
| TMEM41B | 1 | Sep 14, 2023 |
| TMEM94 | 2 | Oct 28, 2024 |
| TMPRSS3 | 1 | Apr 27, 2023 |
| TNFRSF13B | 1 | Jun 15, 2023 |
| TNRC6B | 1 | Sep 2, 2024 |
| TOGARAM1 | 1 | Sep 4, 2024 |
| TP53 | 1 | Apr 12, 2023 |
| TPK1 | 1 | Mar 13, 2023 |
| TRIO | 1 | Nov 9, 2023 |
| TRPM6 | 1 | Aug 29, 2024 |
| TRPV6 | 1 | Mar 13, 2024 |
| TSC1 | 1 | Jul 5, 2024 |
| TSC2 | 2 | Oct 25, 2024 |
| TTN | 1 | Apr 4, 2024 |
| TTN-AS1 | 1 | Apr 4, 2024 |
| TUBA4A | 1 | Sep 16, 2024 |
| TUBG1 | 1 | Jul 30, 2024 |
| UMPS | 1 | Jan 16, 2024 |
| UNC13A | 1 | Aug 30, 2024 |
| USP7 | 1 | May 15, 2023 |
| VPS13B | 1 | Sep 19, 2023 |
| WNT10A | 1 | Jun 20, 2024 |
| ZMYND10 | 3 | Nov 5, 2024 |
| ZMYND10-AS1 | 1 | Nov 5, 2024 |
| ZNF148 | 1 | Jul 12, 2023 |