Institute of Human Genetics (University of Wuerzburg)
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 415
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACAN | 1 | Apr 19, 2022 |
| AIFM1 | 1 | Jan 23, 2023 |
| ALPK3 | 1 | Mar 25, 2024 |
| ALPL | 16 | Sep 14, 2019 |
| AMHR2 | 1 | Sep 14, 2019 |
| ANKRD11 | 2 | Oct 28, 2021 |
| ANO5 | 5 | Aug 5, 2021 |
| AP4E1 | 1 | Jan 9, 2023 |
| AP5Z1 | 1 | Sep 14, 2019 |
| ASTN2 | 1 | Nov 21, 2016 |
| ATM | 3 | Sep 5, 2018 |
| BAG3 | 1 | Sep 8, 2021 |
| BMPR2 | 3 | Mar 9, 2023 |
| BRCA1 | 1 | Sep 5, 2018 |
| BRCA2 | 4 | Sep 14, 2019 |
| BRPF1 | 1 | Dec 8, 2021 |
| CACNA1A | 2 | Oct 28, 2021 |
| CALR3 | 1 | Mar 10, 2022 |
| CAMK2B | 1 | Mar 7, 2023 |
| CAPN3 | 1 | Sep 8, 2023 |
| CARD14 | 1 | Feb 23, 2022 |
| CDCA7L | 1 | Apr 27, 2022 |
| CDH1 | 1 | Sep 5, 2018 |
| CFAP300 | 1 | Feb 20, 2024 |
| CFL2 | 1 | Sep 14, 2019 |
| CHEK2 | 1 | Sep 14, 2019 |
| CKAP2L | 1 | Jul 21, 2021 |
| CLCN4 | 1 | Aug 5, 2021 |
| CLTC | 1 | Nov 27, 2023 |
| COL11A1 | 1 | Feb 21, 2024 |
| COL12A1 | 1 | Sep 14, 2019 |
| COL5A1 | 1 | Mar 3, 2022 |
| COL6A1 | 3 | Jan 22, 2024 |
| COL6A2 | 2 | Mar 10, 2023 |
| COL6A3 | 5 | Sep 8, 2023 |
| COMP | 1 | Dec 8, 2021 |
| COPA | 1 | Jan 13, 2022 |
| COQ8A | 1 | Jul 21, 2021 |
| COX6A1 | 1 | Sep 5, 2018 |
| CSRP3 | 1 | Sep 13, 2022 |
| CTF1 | 1 | Sep 14, 2019 |
| CYP2R1 | 1 | Jan 19, 2022 |
| DAG1 | 1 | Jun 13, 2022 |
| DCTN1 | 1 | Sep 2, 2022 |
| DDHD1 | 1 | Mar 10, 2023 |
| DES | 1 | Dec 8, 2022 |
| DGAT2 | 1 | Oct 10, 2023 |
| DHTKD1 | 3 | Oct 10, 2023 |
| DIAPH1 | 2 | Mar 18, 2021 |
| DMD | 23 | Feb 8, 2024 |
| DMXL2 | 1 | Feb 21, 2024 |
| DNAH11 | 4 | Feb 20, 2024 |
| DNAH9 | 2 | Sep 8, 2021 |
| DNAJB6 | 1 | Aug 11, 2022 |
| DNM2 | 1 | May 9, 2022 |
| DNMT3A | 1 | Mar 18, 2021 |
| DSP | 3 | Mar 26, 2024 |
| DYNC1H1 | 1 | Sep 14, 2019 |
| DYSF | 5 | Nov 10, 2021 |
| EGR2 | 1 | Sep 14, 2019 |
| F9 | 1 | Jul 23, 2019 |
| FARS2 | 1 | Sep 8, 2023 |
| FBN1 | 2 | Sep 14, 2019 |
| FBXO11 | 1 | Mar 18, 2021 |
| FHL1 | 2 | Sep 7, 2023 |
| FKRP | 2 | Feb 24, 2023 |
| FLNB | 1 | Oct 28, 2021 |
| FLNC | 12 | Mar 6, 2024 |
| FLNC-AS1 | 3 | Nov 24, 2023 |
| FOXG1 | 1 | Apr 5, 2022 |
| FPGT-TNNI3K | 1 | Sep 14, 2019 |
| GAA | 2 | Sep 7, 2022 |
| GABBR2 | 1 | Mar 18, 2021 |
| GABRB3 | 1 | Sep 14, 2019 |
| GAN | 1 | Oct 1, 2020 |
| GARS1 | 1 | Mar 10, 2023 |
| GCH1 | 1 | Sep 5, 2018 |
| GDAP1 | 1 | Nov 17, 2020 |
| GJB1 | 4 | Nov 6, 2023 |
| GMPPB | 2 | Jan 13, 2021 |
| GPSM2 | 1 | Jan 31, 2024 |
| GRIN2A | 1 | May 16, 2023 |
| GRM1 | 1 | Sep 5, 2018 |
| HARS1 | 1 | Oct 1, 2020 |
| HCN4 | 1 | Sep 14, 2019 |
| HEXA | 1 | Jun 9, 2022 |
| HINT1 | 1 | Sep 5, 2018 |
| HSPB8 | 1 | May 31, 2023 |
| IARS1 | 2 | Oct 9, 2021 |
| INCA1 | 1 | Sep 5, 2018 |
| ISCU | 1 | Aug 5, 2021 |
| ITPR1 | 1 | Sep 14, 2019 |
| JPH2 | 1 | Sep 5, 2023 |
| KCNH2 | 1 | Jan 25, 2022 |
| KCNMA1 | 1 | Dec 8, 2021 |
| KCNQ1 | 1 | Sep 5, 2018 |
| KDM1A | 1 | Sep 14, 2019 |
| KDM4B | 1 | Nov 10, 2021 |
| KIF1C | 1 | Sep 5, 2018 |
| KIF5A | 1 | Sep 5, 2018 |
| KMT2A | 1 | Sep 5, 2018 |
| LAMA2 | 5 | May 26, 2023 |
| LARP7 | 1 | Sep 5, 2018 |
| LMNA | 4 | Feb 23, 2023 |
| LOC101448202 | 1 | Mar 3, 2022 |
| LOC122787137 | 1 | Nov 10, 2021 |
| LOC126806423 | 1 | Mar 18, 2021 |
| LOC126806424 | 1 | Sep 14, 2019 |
| LOC126806573 | 1 | Jan 2, 2023 |
| LOC126859961 | 1 | Apr 27, 2022 |
| LOC126861897 | 1 | Nov 21, 2016 |
| LOC126862472 | 1 | Sep 5, 2018 |
| LOC126863188 | 1 | Apr 6, 2022 |
| LOC127814297 | 1 | Feb 20, 2024 |
| LOC130058878 | 1 | Sep 14, 2019 |
| LOC130059498 | 1 | Oct 1, 2020 |
| LOC130059818 | 1 | Sep 14, 2019 |
| LRP5 | 1 | Sep 5, 2018 |
| LRP6 | 1 | Sep 14, 2019 |
| MAPT | 1 | May 25, 2023 |
| MCM3AP | 2 | Jul 28, 2022 |
| MED13L | 1 | Mar 18, 2021 |
| MED25 | 3 | Sep 14, 2019 |
| MFN2 | 2 | Oct 24, 2022 |
| MHRT | 1 | Nov 21, 2016 |
| MLH1 | 1 | Mar 17, 2017 |
| MME | 3 | Dec 5, 2023 |
| MPZ | 3 | Sep 8, 2023 |
| MSH2 | 2 | Sep 14, 2019 |
| MSH6 | 2 | Mar 17, 2017 |
| MYBPC3 | 10 | Dec 13, 2023 |
| MYH2 | 2 | Oct 1, 2020 |
| MYH6 | 1 | Sep 7, 2022 |
| MYH7 | 11 | Nov 24, 2023 |
| MYHAS | 2 | Oct 1, 2020 |
| MYO15A | 1 | Feb 20, 2024 |
| MYO6 | 1 | Feb 20, 2024 |
| MYO7A | 1 | Feb 20, 2024 |
| MYOT | 1 | Sep 14, 2019 |
| MYPN | 1 | Feb 2, 2022 |
| NEFH | 2 | Oct 24, 2022 |
| NEFL | 2 | Jan 23, 2023 |
| NEXN | 1 | Mar 26, 2024 |
| NF1 | 4 | Jul 23, 2019 |
| NONO | 1 | Sep 14, 2019 |
| NOTCH1 | 1 | Jan 20, 2022 |
| PALB2 | 1 | Aug 25, 2017 |
| PHKA1 | 1 | Jan 22, 2024 |
| PIEZO2 | 3 | Mar 2, 2022 |
| PKD1 | 5 | Sep 14, 2019 |
| PKD1-AS1 | 2 | Sep 5, 2018 |
| PKD2L2-DT | 1 | Sep 14, 2019 |
| PLA2G6 | 2 | Sep 14, 2019 |
| PLEKHG5 | 1 | Jul 28, 2022 |
| PLOD1 | 1 | Mar 31, 2022 |
| PLP1 | 1 | Oct 1, 2020 |
| PMP22 | 1 | Jul 21, 2021 |
| PNPLA2 | 1 | Aug 5, 2021 |
| POLG | 1 | Sep 14, 2019 |
| POLGARF | 1 | Sep 14, 2019 |
| POLR2F | 1 | Feb 21, 2024 |
| POMGNT1 | 2 | Mar 7, 2023 |
| POMT2 | 1 | Sep 2, 2022 |
| POU4F3 | 1 | Feb 20, 2024 |
| PRDM16 | 1 | Mar 29, 2022 |
| PRKAG2 | 1 | Mar 6, 2024 |
| PRKCG | 1 | Jul 29, 2021 |
| PTCH1 | 1 | Sep 5, 2018 |
| PTEN | 2 | Sep 5, 2018 |
| PYGM | 3 | Mar 18, 2021 |
| RAB33A | 1 | Jan 23, 2023 |
| RAB9B | 1 | Oct 1, 2020 |
| RBM20 | 3 | Sep 8, 2022 |
| RECQL4 | 1 | Sep 14, 2019 |
| RTEL1 | 1 | Sep 14, 2019 |
| RTEL1-TNFRSF6B | 1 | Sep 14, 2019 |
| RYR1 | 7 | Jan 22, 2024 |
| RYR2 | 3 | Feb 14, 2023 |
| SACS | 1 | Sep 14, 2019 |
| SBF1 | 2 | Jul 19, 2022 |
| SCN1A | 1 | Aug 29, 2022 |
| SCN5A | 1 | Sep 14, 2019 |
| SELENON | 1 | Sep 8, 2023 |
| SERPING1 | 4 | Sep 14, 2019 |
| SETD5 | 1 | Oct 28, 2021 |
| SGCA | 3 | Oct 18, 2023 |
| SGCG | 2 | Sep 8, 2023 |
| SGSH | 2 | Feb 23, 2022 |
| SHANK2 | 1 | Mar 18, 2021 |
| SHANK3 | 1 | Apr 6, 2022 |
| SLC12A2 | 1 | Mar 18, 2021 |
| SMCHD1 | 28 | Mar 4, 2024 |
| SMPX | 1 | Feb 20, 2024 |
| SNX14 | 1 | Nov 10, 2021 |
| SOX10 | 1 | Feb 21, 2024 |
| SPAST | 1 | Nov 11, 2022 |
| SPG11 | 1 | Sep 8, 2023 |
| SPG7 | 2 | Sep 14, 2019 |
| SPTAN1 | 1 | Mar 18, 2021 |
| STK38 | 1 | Sep 14, 2019 |
| STXBP1 | 3 | Feb 13, 2023 |
| TCAP | 1 | Sep 6, 2017 |
| TCF12 | 1 | Sep 5, 2018 |
| TET2 | 1 | Nov 16, 2023 |
| TET2-AS1 | 1 | Nov 16, 2023 |
| TG | 1 | Sep 14, 2019 |
| TGIF1 | 1 | Feb 21, 2024 |
| TGM6 | 1 | Sep 14, 2019 |
| TMEM43 | 1 | Dec 8, 2022 |
| TNNC1 | 1 | Mar 18, 2021 |
| TNNI3 | 2 | Feb 23, 2023 |
| TNNI3K | 1 | Sep 14, 2019 |
| TNNT1 | 1 | Jun 24, 2022 |
| TNNT2 | 1 | Sep 14, 2019 |
| TNPO3 | 1 | Mar 2, 2023 |
| TRAPPC11 | 1 | Jul 21, 2021 |
| TRAPPC12 | 1 | Mar 18, 2021 |
| TRIM2 | 1 | Sep 14, 2019 |
| TRIM32 | 1 | Nov 21, 2016 |
| TRIM63 | 1 | Sep 14, 2019 |
| TRIO | 1 | Oct 10, 2023 |
| TRPM4 | 1 | Jul 21, 2021 |
| TRPV4 | 1 | Sep 8, 2023 |
| TSPAN1 | 2 | Mar 7, 2023 |
| TTC12 | 1 | Sep 7, 2023 |
| TTN | 12 | Sep 7, 2023 |
| TTN-AS1 | 10 | Sep 7, 2023 |
| TUBA1A | 1 | Feb 10, 2022 |
| TWIST1 | 2 | Jul 23, 2019 |
| USH2A | 2 | Feb 21, 2024 |
| VAC14 | 1 | Mar 18, 2021 |
| VCL | 1 | Sep 14, 2019 |
| WASHC5 | 3 | Jul 21, 2021 |
| WDR62 | 1 | Sep 14, 2019 |
| XK | 1 | Feb 16, 2023 |
| ZFYVE27 | 1 | Sep 5, 2018 |
| ZMYM2 | 1 | May 18, 2022 |