Institute for Clinical Genetics, University Hospital TU Dresden (University Hospital TU Dresden), KGE
General information
Institute for Clinical Genetics, University Hospital TU Dresden, KGE
University Hospital TU Dresden
Fetscherstr. 74
Dresden
Sachsen
Germany - 01307
https://tu-dresden.de/med/mf/kge/
Organization ID: 505632
University Hospital TU Dresden
Fetscherstr. 74
Dresden
Sachsen
Germany - 01307
https://tu-dresden.de/med/mf/kge/
Organization ID: 505632
Personnel
- Joseph Porrmann, Coordinator
Phone: +4935145814371
Email: Joseph.Porrmann@uniklinikum-dresden.de - Evelin Schröck, Medical Director
Phone: +4935145818349
Email: KGE-ClinVar@uniklinikum-dresden.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3094
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 1 | Jul 12, 2023 |
| ABAT | 1 | Jul 12, 2023 |
| ABCA3 | 2 | Aug 18, 2023 |
| ABCA4 | 3 | Aug 18, 2023 |
| ABCA7 | 2 | Jul 12, 2023 |
| ABCC8 | 1 | Aug 18, 2023 |
| ABCG8 | 2 | Jul 12, 2023 |
| ACADM | 2 | Jul 12, 2023 |
| ACADS | 2 | Jul 12, 2023 |
| ACAT1 | 2 | Aug 18, 2023 |
| ACD | 5 | Jul 12, 2023 |
| ACOX1 | 1 | Jul 12, 2023 |
| ACSL4 | 1 | Jul 12, 2023 |
| ACTB | 2 | Jul 12, 2023 |
| ACTC1 | 2 | Jul 12, 2023 |
| ACTG1 | 1 | Jul 12, 2023 |
| ACTL6B | 1 | Jul 12, 2023 |
| ACVRL1 | 2 | Aug 18, 2023 |
| ADAMTSL2 | 3 | Jul 12, 2023 |
| ADAMTSL4 | 2 | Aug 18, 2023 |
| ADAMTSL4-AS2 | 2 | Aug 18, 2023 |
| ADNP | 1 | Aug 18, 2023 |
| AFF2 | 1 | Jul 12, 2023 |
| AFG2A | 1 | Jul 12, 2023 |
| AFG3L2 | 1 | Aug 18, 2023 |
| AGO1 | 1 | Aug 18, 2023 |
| AHI1 | 1 | Jul 12, 2023 |
| AIP | 8 | Jul 12, 2023 |
| AKT1 | 3 | Jul 12, 2023 |
| ALG1 | 2 | Jul 12, 2023 |
| ALG2 | 2 | Jul 12, 2023 |
| ALK | 11 | Jul 12, 2023 |
| AMPD3 | 2 | Jul 12, 2023 |
| ANK2 | 2 | Aug 18, 2023 |
| ANK3 | 2 | Aug 18, 2023 |
| ANKRD11 | 4 | Aug 18, 2023 |
| ANKRD17 | 1 | Aug 18, 2023 |
| ANO3 | 1 | Aug 18, 2023 |
| ANO5 | 1 | Jul 12, 2023 |
| AOPEP | 9 | Jul 12, 2023 |
| AP3B2 | 1 | Jul 12, 2023 |
| AP4B1 | 1 | Jul 12, 2023 |
| AP4B1-AS1 | 2 | Aug 18, 2023 |
| APC | 67 | Aug 18, 2023 |
| APC2 | 2 | Aug 18, 2023 |
| APOB | 3 | Aug 18, 2023 |
| AQP2 | 1 | Jul 12, 2023 |
| ARFGEF1-DT | 1 | Jul 12, 2023 |
| ARHGAP31 | 1 | Jul 12, 2023 |
| ARHGEF10 | 1 | Jul 12, 2023 |
| ARID1A | 4 | Aug 18, 2023 |
| ARID1B | 5 | Aug 18, 2023 |
| ARID2 | 2 | Aug 18, 2023 |
| ARIH1 | 1 | Aug 18, 2023 |
| ARL3 | 1 | Aug 18, 2023 |
| ARMC5 | 2 | Aug 18, 2023 |
| ARSA | 2 | Aug 18, 2023 |
| ARX | 1 | Aug 18, 2023 |
| ASH1L | 1 | Aug 18, 2023 |
| ASPM | 2 | Jul 12, 2023 |
| ASXL2 | 1 | Jul 12, 2023 |
| ASXL3 | 2 | Aug 18, 2023 |
| ATL1 | 2 | Aug 18, 2023 |
| ATM | 79 | Aug 18, 2023 |
| ATN1 | 2 | Jul 12, 2023 |
| ATP11A | 1 | Aug 18, 2023 |
| ATP1A2 | 2 | Jul 12, 2023 |
| ATP1A3 | 2 | Aug 18, 2023 |
| ATP2B2 | 1 | Aug 18, 2023 |
| ATP2B3 | 1 | Jul 12, 2023 |
| ATP7A | 2 | Aug 18, 2023 |
| ATP7B | 4 | Aug 18, 2023 |
| ATRIP | 2 | Jul 12, 2023 |
| ATRIP-TREX1 | 2 | Jul 12, 2023 |
| ATRX | 1 | Jul 12, 2023 |
| ATXN3 | 1 | Jul 12, 2023 |
| AUTS2 | 7 | Aug 18, 2023 |
| AXIN2 | 5 | Jul 12, 2023 |
| B3GAT3 | 1 | Jul 12, 2023 |
| B3GLCT | 1 | Jul 12, 2023 |
| BAP1 | 13 | Aug 18, 2023 |
| BARD1 | 24 | Aug 18, 2023 |
| BBS7 | 1 | Jul 12, 2023 |
| BCORL1 | 1 | Jul 12, 2023 |
| BCS1L | 2 | Jul 12, 2023 |
| BICD2 | 2 | Aug 18, 2023 |
| BICRA | 2 | Aug 18, 2023 |
| BIVM-ERCC5 | 24 | Jul 12, 2023 |
| BLM | 26 | Jul 12, 2023 |
| BLTP1 | 2 | Jul 12, 2023 |
| BMPR1A | 6 | Jul 12, 2023 |
| BPTF | 1 | Jul 12, 2023 |
| BRAF | 3 | Aug 18, 2023 |
| BRAT1 | 2 | Aug 18, 2023 |
| BRCA1 | 68 | Aug 18, 2023 |
| BRCA2 | 118 | Aug 18, 2023 |
| BRF1 | 2 | Jul 12, 2023 |
| BRIP1 | 30 | Aug 18, 2023 |
| BRWD3 | 4 | Aug 18, 2023 |
| BTD | 2 | Jul 12, 2023 |
| BUB1B | 9 | Jul 12, 2023 |
| BUB1B-PAK6 | 2 | Jul 12, 2023 |
| C11orf65 | 29 | Aug 18, 2023 |
| C2 | 1 | Jul 12, 2023 |
| C2CD3 | 1 | Jul 12, 2023 |
| C7 | 1 | Jul 12, 2023 |
| CACNA1A | 2 | Aug 18, 2023 |
| CACNA1C | 1 | Jul 12, 2023 |
| CACNA1D | 1 | Jul 12, 2023 |
| CACNA1E | 1 | Jul 12, 2023 |
| CACNA1F | 2 | Jul 12, 2023 |
| CACNA1G | 1 | Aug 18, 2023 |
| CACNA1H | 1 | Jul 12, 2023 |
| CACNA1I | 1 | Aug 18, 2023 |
| CAMK2B | 1 | Jul 12, 2023 |
| CAPN3 | 2 | Aug 18, 2023 |
| CARD11 | 1 | Jul 12, 2023 |
| CASK | 2 | Aug 18, 2023 |
| CASP10 | 3 | Aug 18, 2023 |
| CASR | 6 | Jul 12, 2023 |
| CAST | 2 | Jul 12, 2023 |
| CBL | 1 | Aug 18, 2023 |
| CBS | 2 | Aug 18, 2023 |
| CC2D1A | 1 | Jul 12, 2023 |
| CCDC107 | 1 | Aug 18, 2023 |
| CCDC40 | 2 | Jul 12, 2023 |
| CCDC8 | 1 | Jul 12, 2023 |
| CCDC88C | 2 | Jul 12, 2023 |
| CCDST | 2 | Aug 18, 2023 |
| CCM2 | 1 | Aug 18, 2023 |
| CCND2 | 1 | Jul 12, 2023 |
| CCNH | 1 | Aug 18, 2023 |
| CD2AP | 1 | Aug 18, 2023 |
| CD36 | 4 | Jul 12, 2023 |
| CDC73 | 1 | Jul 12, 2023 |
| CDH1 | 20 | Aug 18, 2023 |
| CDH15 | 2 | Jul 12, 2023 |
| CDH23 | 5 | Jul 12, 2023 |
| CDH3 | 1 | Aug 18, 2023 |
| CDK13 | 2 | Aug 18, 2023 |
| CDK4 | 5 | Jul 12, 2023 |
| CDKL5 | 2 | Jul 12, 2023 |
| CDKN1B | 4 | Jul 12, 2023 |
| CDKN2A | 7 | Jul 12, 2023 |
| CEBPA | 5 | Jul 12, 2023 |
| CELA2A | 1 | Aug 18, 2023 |
| CEP152 | 1 | Jul 12, 2023 |
| CEP290 | 2 | Aug 18, 2023 |
| CEP57 | 1 | Jul 12, 2023 |
| CEP85L | 1 | Jul 12, 2023 |
| CERT1 | 1 | Jul 12, 2023 |
| CFH | 3 | Aug 18, 2023 |
| CFHR3 | 1 | Aug 18, 2023 |
| CFI | 1 | Jul 12, 2023 |
| CFP | 1 | Jul 12, 2023 |
| CFTR | 7 | Aug 18, 2023 |
| CFTR-AS1 | 2 | Jul 12, 2023 |
| CHAMP1 | 1 | Aug 18, 2023 |
| CHD1 | 1 | Aug 18, 2023 |
| CHD2 | 2 | Aug 18, 2023 |
| CHD3 | 5 | Aug 18, 2023 |
| CHD5 | 1 | Aug 18, 2023 |
| CHD7 | 3 | Aug 18, 2023 |
| CHD8 | 1 | Jul 12, 2023 |
| CHEK2 | 37 | Aug 18, 2023 |
| CHRNA1 | 1 | Aug 18, 2023 |
| CLASP1 | 2 | Aug 18, 2023 |
| CLCN1 | 1 | Aug 18, 2023 |
| CLCN2 | 1 | Aug 18, 2023 |
| CLTC | 2 | Aug 18, 2023 |
| CNBP | 1 | Jul 12, 2023 |
| CNKSR2 | 1 | Jul 12, 2023 |
| CNOT3 | 3 | Aug 18, 2023 |
| CNOT9 | 1 | Aug 18, 2023 |
| COA8 | 1 | Jul 12, 2023 |
| COG4 | 1 | Jul 12, 2023 |
| COL10A1 | 1 | Jul 12, 2023 |
| COL12A1 | 1 | Jul 12, 2023 |
| COL18A1 | 1 | Jul 12, 2023 |
| COL27A1 | 1 | Jul 12, 2023 |
| COL2A1 | 2 | Jul 12, 2023 |
| COL3A1 | 6 | Aug 18, 2023 |
| COL4A1 | 3 | Aug 18, 2023 |
| COL5A1 | 4 | Aug 18, 2023 |
| COL5A2 | 2 | Jul 12, 2023 |
| COL6A2 | 2 | Jul 12, 2023 |
| COL6A3 | 2 | Jul 12, 2023 |
| COL7A1 | 7 | Aug 18, 2023 |
| COQ2 | 1 | Jul 12, 2023 |
| CPA6 | 2 | Jul 12, 2023 |
| CPEB1-AS1 | 1 | Jul 12, 2023 |
| CR2 | 1 | Jul 12, 2023 |
| CREBBP | 1 | Aug 18, 2023 |
| CRYAB | 1 | Jul 12, 2023 |
| CSTB | 1 | Jul 12, 2023 |
| CTLA4 | 1 | Aug 18, 2023 |
| CTNNA1 | 2 | Jul 12, 2023 |
| CTNNB1 | 1 | Jul 12, 2023 |
| CTRC | 3 | Jul 12, 2023 |
| CTTN-DT | 1 | Aug 18, 2023 |
| CUBN | 3 | Aug 18, 2023 |
| CUL4B | 1 | Jul 12, 2023 |
| CUL7 | 1 | Jul 12, 2023 |
| CXCR4 | 1 | Jul 12, 2023 |
| CYLD | 1 | Jul 12, 2023 |
| CYLD-AS2 | 1 | Jul 12, 2023 |
| CYP21A2 | 2 | Jul 12, 2023 |
| CYP26B1 | 1 | Jul 12, 2023 |
| CYP7A1 | 1 | Aug 18, 2023 |
| DAB1 | 1 | Jul 12, 2023 |
| DAG1 | 2 | Jul 12, 2023 |
| DCTN5 | 1 | Jul 12, 2023 |
| DCX | 1 | Aug 18, 2023 |
| DDB2 | 9 | Aug 18, 2023 |
| DDX23 | 1 | Aug 18, 2023 |
| DEAF1 | 1 | Jul 12, 2023 |
| DEPDC5 | 5 | Aug 18, 2023 |
| DGUOK | 1 | Jul 12, 2023 |
| DHFR | 4 | Jul 12, 2023 |
| DHX30 | 1 | Aug 18, 2023 |
| DICER1 | 22 | Jul 12, 2023 |
| DIS3L2 | 10 | Jul 12, 2023 |
| DLG3 | 2 | Jul 12, 2023 |
| DLG4 | 1 | Aug 18, 2023 |
| DLL1 | 1 | Jul 12, 2023 |
| DLST | 4 | Jul 12, 2023 |
| DMD | 7 | Aug 18, 2023 |
| DNA2 | 1 | Aug 18, 2023 |
| DNAH5 | 2 | Aug 18, 2023 |
| DNAH9 | 4 | Aug 18, 2023 |
| DNASE1L1 | 1 | Jul 12, 2023 |
| DNMT3A | 1 | Aug 18, 2023 |
| DOCK6 | 2 | Jul 12, 2023 |
| DOCK6-AS1 | 2 | Jul 12, 2023 |
| DOK7 | 1 | Aug 18, 2023 |
| DOLK | 1 | Jul 12, 2023 |
| DPF2 | 1 | Aug 18, 2023 |
| DSG1 | 2 | Aug 18, 2023 |
| DSG1-AS1 | 2 | Aug 18, 2023 |
| DSP | 3 | Aug 18, 2023 |
| DYNC1H1 | 3 | Aug 18, 2023 |
| DYNC1I2 | 1 | Jul 12, 2023 |
| DYNC2I2 | 1 | Aug 18, 2023 |
| DYRK1A | 1 | Jul 12, 2023 |
| EBF3 | 3 | Aug 18, 2023 |
| EFCAB10 | 1 | Jul 12, 2023 |
| EFHC1 | 2 | Jul 12, 2023 |
| EGFR | 13 | Jul 12, 2023 |
| EHMT1 | 2 | Jul 12, 2023 |
| EIF2B2 | 1 | Jul 12, 2023 |
| EIF2B4 | 1 | Jul 12, 2023 |
| ELAC2 | 2 | Jul 12, 2023 |
| ELN | 1 | Aug 18, 2023 |
| ELOVL5 | 1 | Aug 18, 2023 |
| ENTPD1 | 2 | Aug 18, 2023 |
| EP300 | 2 | Aug 18, 2023 |
| EPCAM | 5 | Jul 12, 2023 |
| EPG5 | 4 | Aug 18, 2023 |
| ERBB2 | 7 | Jul 12, 2023 |
| ERCC1 | 5 | Jul 12, 2023 |
| ERCC2 | 29 | Jul 12, 2023 |
| ERCC3 | 14 | Jul 12, 2023 |
| ERCC4 | 26 | Jul 12, 2023 |
| ERCC5 | 24 | Jul 12, 2023 |
| EVC | 1 | Jul 12, 2023 |
| EXT1 | 5 | Aug 18, 2023 |
| EXT2 | 10 | Jul 12, 2023 |
| EXTL3 | 1 | Jul 12, 2023 |
| EZH2 | 2 | Aug 18, 2023 |
| FAM111A | 1 | Jul 12, 2023 |
| FAM111B | 1 | Jul 12, 2023 |
| FAM20A | 1 | Aug 18, 2023 |
| FANCA | 48 | Aug 18, 2023 |
| FANCB | 9 | Jul 12, 2023 |
| FANCC | 13 | Jul 12, 2023 |
| FANCD2 | 19 | Jul 12, 2023 |
| FANCD2OS | 2 | Jul 12, 2023 |
| FANCE | 16 | Jul 12, 2023 |
| FANCF | 9 | Jul 12, 2023 |
| FANCG | 10 | Jul 12, 2023 |
| FANCI | 19 | Jul 12, 2023 |
| FANCL | 5 | Jul 12, 2023 |
| FANCM | 37 | Jul 12, 2023 |
| FARS2 | 3 | Aug 18, 2023 |
| FAS | 2 | Aug 18, 2023 |
| FASLG | 1 | Aug 18, 2023 |
| FAT2 | 2 | Aug 18, 2023 |
| FAT4 | 2 | Jul 12, 2023 |
| FBN1 | 7 | Aug 18, 2023 |
| FBN2 | 1 | Jul 12, 2023 |
| FBXL4 | 3 | Jul 12, 2023 |
| FBXO11 | 4 | Jul 12, 2023 |
| FBXO38 | 1 | Jul 12, 2023 |
| FGD1 | 1 | Jul 12, 2023 |
| FGF12 | 1 | Aug 18, 2023 |
| FGFR1 | 3 | Jul 12, 2023 |
| FGFR2 | 1 | Jul 12, 2023 |
| FGFR3 | 3 | Aug 18, 2023 |
| FH | 9 | Jul 12, 2023 |
| FKRP | 1 | Jul 12, 2023 |
| FLCN | 16 | Aug 18, 2023 |
| FLG | 2 | Aug 18, 2023 |
| FLNA | 3 | Jul 12, 2023 |
| FLNB | 1 | Jul 12, 2023 |
| FLT4 | 1 | Jul 12, 2023 |
| FMN2 | 1 | Jul 12, 2023 |
| FN1 | 1 | Jul 12, 2023 |
| FOXG1 | 1 | Jul 12, 2023 |
| FOXN1 | 1 | Jul 12, 2023 |
| FOXP1 | 3 | Aug 18, 2023 |
| FOXP2 | 1 | Jul 12, 2023 |
| FREM2 | 1 | Jul 12, 2023 |
| FRMD7 | 1 | Jul 12, 2023 |
| FRMPD4 | 3 | Aug 18, 2023 |
| FTCD | 2 | Aug 18, 2023 |
| FTL | 1 | Jul 12, 2023 |
| G6PD | 2 | Aug 18, 2023 |
| GABRA1 | 1 | Aug 18, 2023 |
| GABRA2 | 1 | Aug 18, 2023 |
| GABRB2 | 1 | Aug 18, 2023 |
| GALC | 4 | Aug 18, 2023 |
| GALK1 | 1 | Jul 12, 2023 |
| GALNS | 1 | Jul 12, 2023 |
| GALNT12 | 11 | Jul 12, 2023 |
| GATA2 | 5 | Jul 12, 2023 |
| GATAD2B | 1 | Jul 12, 2023 |
| GBA1 | 1 | Jul 12, 2023 |
| GBE1 | 1 | Jul 12, 2023 |
| GBF1 | 1 | Aug 18, 2023 |
| GCK | 1 | Jul 12, 2023 |
| GH-LCR | 1 | Aug 18, 2023 |
| GHR | 1 | Aug 18, 2023 |
| GJB2 | 2 | Jul 12, 2023 |
| GJB4 | 1 | Aug 18, 2023 |
| GJB6 | 1 | Jul 12, 2023 |
| GJD2-DT | 2 | Jul 12, 2023 |
| GLI2 | 2 | Jul 12, 2023 |
| GNAO1 | 3 | Aug 18, 2023 |
| GNAS | 1 | Aug 18, 2023 |
| GNB1 | 1 | Aug 18, 2023 |
| GNE | 1 | Jul 12, 2023 |
| GPC3 | 3 | Jul 12, 2023 |
| GPHN | 1 | Jul 12, 2023 |
| GRIA2 | 1 | Aug 18, 2023 |
| GRIA4 | 1 | Jul 12, 2023 |
| GRIN1 | 3 | Aug 18, 2023 |
| GRIN2A | 5 | Aug 18, 2023 |
| GRIN2B | 1 | Jul 12, 2023 |
| GRIN2D | 3 | Jul 12, 2023 |
| GSDME | 1 | Jul 12, 2023 |
| GTF3C2-AS2 | 1 | Jul 12, 2023 |
| HAL | 1 | Jul 12, 2023 |
| HARS1 | 1 | Jul 12, 2023 |
| HBA-LCR | 1 | Jul 12, 2023 |
| HCN1 | 2 | Jul 12, 2023 |
| HCN2 | 2 | Aug 18, 2023 |
| HECW2 | 1 | Jul 12, 2023 |
| HK1 | 2 | Aug 18, 2023 |
| HNF1A | 3 | Jul 12, 2023 |
| HNF1B | 1 | Aug 18, 2023 |
| HNF4A | 1 | Aug 18, 2023 |
| HNRNPH2 | 1 | Jul 12, 2023 |
| HNRNPK | 1 | Aug 18, 2023 |
| HNRNPK-AS1 | 1 | Aug 18, 2023 |
| HNRNPU | 1 | Aug 18, 2023 |
| HOXB13 | 3 | Jul 12, 2023 |
| HRAS | 1 | Jul 12, 2023 |
| HSD3B2 | 1 | Jul 12, 2023 |
| HSPA9 | 1 | Jul 12, 2023 |
| HTRA1 | 1 | Jul 12, 2023 |
| HUWE1 | 1 | Aug 18, 2023 |
| IDH2 | 1 | Jul 12, 2023 |
| IDS | 2 | Aug 18, 2023 |
| IDUA | 1 | Jul 12, 2023 |
| IFIH1 | 5 | Aug 18, 2023 |
| IFT140 | 1 | Jul 12, 2023 |
| IGF1R | 1 | Jul 12, 2023 |
| IKZF1 | 1 | Aug 18, 2023 |
| IKZF3 | 1 | Aug 18, 2023 |
| IL10RA | 1 | Jul 12, 2023 |
| IL1RAPL1 | 1 | Aug 18, 2023 |
| INF2 | 1 | Aug 18, 2023 |
| INSL6 | 3 | Jul 12, 2023 |
| IQSEC2 | 2 | Aug 18, 2023 |
| IRAK1BP1 | 2 | Aug 18, 2023 |
| IRF2BP2 | 1 | Aug 18, 2023 |
| IRF3 | 1 | Aug 18, 2023 |
| IRF4 | 1 | Aug 18, 2023 |
| IRF6 | 1 | Jul 12, 2023 |
| IRF8 | 1 | Jul 12, 2023 |
| ITGB4 | 1 | Jul 12, 2023 |
| ITSN1 | 2 | Aug 18, 2023 |
| JAG1 | 1 | Aug 18, 2023 |
| JAK2 | 3 | Jul 12, 2023 |
| JARID2 | 1 | Aug 18, 2023 |
| JPH2 | 1 | Jul 12, 2023 |
| KAT5 | 1 | Jul 12, 2023 |
| KAT6A | 2 | Aug 18, 2023 |
| KAT6B | 1 | Aug 18, 2023 |
| KCNB1 | 2 | Aug 18, 2023 |
| KCNC1 | 1 | Jul 12, 2023 |
| KCND3 | 2 | Jul 12, 2023 |
| KCNH1 | 1 | Jul 12, 2023 |
| KCNJ5 | 1 | Aug 18, 2023 |
| KCNJ6 | 1 | Jul 12, 2023 |
| KCNJ6-AS1 | 1 | Jul 12, 2023 |
| KCNK3 | 1 | Jul 12, 2023 |
| KCNMA1 | 1 | Jul 12, 2023 |
| KCNQ1 | 3 | Aug 18, 2023 |
| KCNQ5 | 3 | Aug 18, 2023 |
| KCNQ5-DT | 3 | Aug 18, 2023 |
| KCNT1 | 2 | Aug 18, 2023 |
| KDM5B | 2 | Aug 18, 2023 |
| KDM5C | 1 | Jul 12, 2023 |
| KDM6B | 2 | Aug 18, 2023 |
| KIF11 | 1 | Jul 12, 2023 |
| KIF1A | 4 | Aug 18, 2023 |
| KIF1B | 23 | Jul 12, 2023 |
| KIF21A | 2 | Aug 18, 2023 |
| KIF5A | 1 | Jul 12, 2023 |
| KIT | 16 | Jul 12, 2023 |
| KLC3 | 1 | Jul 12, 2023 |
| KLHL40 | 1 | Jul 12, 2023 |
| KMT2A | 1 | Aug 18, 2023 |
| KMT2B | 4 | Aug 18, 2023 |
| KMT2C | 2 | Aug 18, 2023 |
| KMT2D | 2 | Jul 12, 2023 |
| KMT2E | 1 | Aug 18, 2023 |
| KMT5B | 1 | Aug 18, 2023 |
| KNL1 | 1 | Jul 12, 2023 |
| KRAS | 1 | Jul 12, 2023 |
| KRIT1 | 1 | Aug 18, 2023 |
| KRT10 | 1 | Jul 12, 2023 |
| KRT5 | 1 | Aug 18, 2023 |
| KRT81 | 1 | Jul 12, 2023 |
| KRT86 | 1 | Jul 12, 2023 |
| LAGE3 | 1 | Jul 12, 2023 |
| LAMA2 | 1 | Jul 12, 2023 |
| LAMB1 | 2 | Aug 18, 2023 |
| LAMB2 | 1 | Jul 12, 2023 |
| LAMP2 | 1 | Jul 12, 2023 |
| LARS1 | 1 | Jul 12, 2023 |
| LARS2 | 1 | Aug 18, 2023 |
| LDLR | 4 | Aug 18, 2023 |
| LMNA | 1 | Jul 12, 2023 |
| LMX1A | 1 | Aug 18, 2023 |
| LMX1A-AS2 | 1 | Aug 18, 2023 |
| LMX1B | 1 | Jul 12, 2023 |
| LNPK | 2 | Aug 18, 2023 |
| LOC100506235 | 2 | Jul 12, 2023 |
| LOC100507346 | 6 | Aug 18, 2023 |
| LOC101448202 | 1 | Jul 12, 2023 |
| LOC101927950 | 1 | Aug 18, 2023 |
| LOC101929710 | 2 | Jul 12, 2023 |
| LOC102724058 | 2 | Aug 18, 2023 |
| LOC105369373 | 1 | Aug 18, 2023 |
| LOC106050102 | 2 | Aug 18, 2023 |
| LOC106627981 | 1 | Jul 12, 2023 |
| LOC106736614 | 1 | Jul 12, 2023 |
| LOC106780800 | 2 | Jul 12, 2023 |
| LOC107303338 | 15 | Jul 12, 2023 |
| LOC107303340 | 4 | Jul 12, 2023 |
| LOC107652445 | 1 | Jul 12, 2023 |
| LOC107982234 | 5 | Jul 12, 2023 |
| LOC107988032 | 1 | Jul 12, 2023 |
| LOC109461484 | 2 | Jul 12, 2023 |
| LOC110011216 | 1 | Jul 12, 2023 |
| LOC111674472 | 1 | Jul 12, 2023 |
| LOC112486223 | 3 | Jul 12, 2023 |
| LOC112997540 | 1 | Jul 12, 2023 |
| LOC114827850 | 1 | Aug 18, 2023 |
| LOC123864065 | 1 | Jul 12, 2023 |
| LOC126805614 | 2 | Jul 12, 2023 |
| LOC126805670 | 1 | Aug 18, 2023 |
| LOC126805994 | 1 | Jul 12, 2023 |
| LOC126806583 | 1 | Aug 18, 2023 |
| LOC126806658 | 1 | Jul 12, 2023 |
| LOC126807437 | 1 | Jul 12, 2023 |
| LOC126859837 | 1 | Jul 12, 2023 |
| LOC126860342 | 2 | Jul 12, 2023 |
| LOC126861106 | 1 | Jul 12, 2023 |
| LOC126861201 | 1 | Jul 12, 2023 |
| LOC126861205 | 1 | Jul 12, 2023 |
| LOC126861339 | 2 | Jul 12, 2023 |
| LOC126861526 | 1 | Aug 18, 2023 |
| LOC126861834 | 2 | Jul 12, 2023 |
| LOC126862264 | 1 | Aug 18, 2023 |
| LOC126862479 | 1 | Aug 18, 2023 |
| LOC126862481 | 1 | Aug 18, 2023 |
| LOC126862571 | 8 | Jul 12, 2023 |
| LOC126863133 | 1 | Aug 18, 2023 |
| LOC126863253 | 1 | Aug 18, 2023 |
| LOC126863256 | 1 | Jul 12, 2023 |
| LOC126863257 | 1 | Jul 12, 2023 |
| LOC129390903 | 1 | Jul 12, 2023 |
| LOC129932810 | 1 | Aug 18, 2023 |
| LOC129936244 | 1 | Jul 12, 2023 |
| LOC129994848 | 1 | Jul 12, 2023 |
| LOC129996245 | 3 | Jul 12, 2023 |
| LOC129996487 | 1 | Jul 12, 2023 |
| LOC129996711 | 3 | Aug 18, 2023 |
| LOC130001603 | 1 | Jul 12, 2023 |
| LOC130002133 | 3 | Jul 12, 2023 |
| LOC130003710 | 1 | Jul 12, 2023 |
| LOC130004614 | 3 | Jul 12, 2023 |
| LOC130004775 | 1 | Jul 12, 2023 |
| LOC130006027 | 1 | Aug 18, 2023 |
| LOC130008148 | 1 | Jul 12, 2023 |
| LOC130009266 | 2 | Jul 12, 2023 |
| LOC130009573 | 1 | Jul 12, 2023 |
| LOC130055524 | 1 | Jul 12, 2023 |
| LOC130055850 | 2 | Jul 12, 2023 |
| LOC130056709 | 1 | Jul 12, 2023 |
| LOC130057019 | 1 | Jul 12, 2023 |
| LOC130058543 | 3 | Jul 12, 2023 |
| LOC130059837 | 1 | Jul 12, 2023 |
| LOC130061479 | 1 | Aug 18, 2023 |
| LOC130061900 | 1 | Jul 12, 2023 |
| LOC130067016 | 1 | Jul 12, 2023 |
| LOC130068869 | 1 | Jul 12, 2023 |
| LOC130068876 | 1 | Jul 12, 2023 |
| LONP1 | 3 | Jul 12, 2023 |
| LONP2 | 1 | Aug 18, 2023 |
| LOXHD1 | 3 | Jul 12, 2023 |
| LPO | 1 | Jul 12, 2023 |
| LPP | 2 | Jul 12, 2023 |
| LRBA | 1 | Jul 12, 2023 |
| LRP4 | 1 | Jul 12, 2023 |
| LRP6 | 1 | Aug 18, 2023 |
| LRRC56 | 1 | Jul 12, 2023 |
| LTBP3 | 2 | Aug 18, 2023 |
| LYST | 1 | Jul 12, 2023 |
| LZTR1 | 18 | Aug 18, 2023 |
| MACF1 | 1 | Jul 12, 2023 |
| MAGEL2 | 4 | Aug 18, 2023 |
| MAGT1 | 1 | Jul 12, 2023 |
| MAN2B1 | 1 | Jul 12, 2023 |
| MAOA | 1 | Jul 12, 2023 |
| MAP2K2 | 1 | Jul 12, 2023 |
| MAP3K1 | 2 | Jul 12, 2023 |
| MAPK1 | 1 | Aug 18, 2023 |
| MAPK3 | 1 | Aug 18, 2023 |
| MASP1 | 1 | Jul 12, 2023 |
| MASP2 | 1 | Jul 12, 2023 |
| MAST1 | 2 | Aug 18, 2023 |
| MAX | 3 | Jul 12, 2023 |
| MBD5 | 1 | Aug 18, 2023 |
| MBTPS1 | 2 | Aug 18, 2023 |
| MBTPS2 | 1 | Jul 12, 2023 |
| MCCC2 | 1 | Jul 12, 2023 |
| MCM3AP | 2 | Aug 18, 2023 |
| MDH2 | 3 | Jul 12, 2023 |
| MECP2 | 1 | Jul 12, 2023 |
| MED12 | 2 | Aug 18, 2023 |
| MED12L | 1 | Aug 18, 2023 |
| MED13 | 2 | Aug 18, 2023 |
| MED13L | 4 | Aug 18, 2023 |
| MED25 | 1 | Jul 12, 2023 |
| MEFV | 2 | Aug 18, 2023 |
| MEIS2 | 1 | Aug 18, 2023 |
| MEN1 | 9 | Jul 12, 2023 |
| MET | 17 | Jul 12, 2023 |
| MID1 | 1 | Jul 12, 2023 |
| MITF | 6 | Jul 12, 2023 |
| MLH1 | 30 | Aug 18, 2023 |
| MLH3 | 5 | Jul 12, 2023 |
| MMP20 | 1 | Jul 12, 2023 |
| MMP20-AS1 | 1 | Jul 12, 2023 |
| MN1 | 2 | Aug 18, 2023 |
| MPEG1 | 1 | Aug 18, 2023 |
| MPO | 1 | Jul 12, 2023 |
| MRE11 | 10 | Jul 12, 2023 |
| MRPS2 | 1 | Jul 12, 2023 |
| MSH2 | 23 | Aug 18, 2023 |
| MSH3 | 21 | Jul 12, 2023 |
| MSH6 | 46 | Aug 18, 2023 |
| MTHFD1 | 1 | Jul 12, 2023 |
| MTM1 | 1 | Jul 12, 2023 |
| MTO1 | 1 | Aug 18, 2023 |
| MTOR | 1 | Jul 12, 2023 |
| MUSK | 2 | Aug 18, 2023 |
| MUTYH | 25 | Aug 18, 2023 |
| MVK | 2 | Jul 12, 2023 |
| MYBPC3 | 1 | Aug 18, 2023 |
| MYD88 | 1 | Aug 18, 2023 |
| MYH11 | 2 | Jul 12, 2023 |
| MYH6 | 1 | Aug 18, 2023 |
| MYH7 | 1 | Aug 18, 2023 |
| MYH9 | 1 | Jul 12, 2023 |
| MYL2 | 1 | Aug 18, 2023 |
| MYLK | 1 | Jul 12, 2023 |
| MYO15A | 2 | Jul 12, 2023 |
| MYO1E | 1 | Jul 12, 2023 |
| MYO7A | 2 | Jul 12, 2023 |
| NAA15 | 1 | Jul 12, 2023 |
| NAA38 | 1 | Jul 12, 2023 |
| NALCN | 1 | Jul 12, 2023 |
| NBAS | 1 | Jul 12, 2023 |
| NBEA | 1 | Jul 12, 2023 |
| NBN | 16 | Jul 12, 2023 |
| NCOA4 | 1 | Aug 18, 2023 |
| NCSTN | 1 | Aug 18, 2023 |
| NDE1 | 1 | Jul 12, 2023 |
| NDUFV1 | 1 | Jul 12, 2023 |
| NEB | 2 | Jul 12, 2023 |
| NEK1 | 1 | Jul 12, 2023 |
| NEK10 | 1 | Jul 12, 2023 |
| NEMF | 1 | Jul 12, 2023 |
| NEUROD1 | 1 | Jul 12, 2023 |
| NEXMIF | 3 | Jul 12, 2023 |
| NF1 | 39 | Aug 18, 2023 |
| NF2 | 6 | Jul 12, 2023 |
| NFE2L2 | 1 | Jul 12, 2023 |
| NFIA | 1 | Jul 12, 2023 |
| NFIB | 1 | Aug 18, 2023 |
| NFKB1 | 2 | Aug 18, 2023 |
| NFKB2 | 2 | Aug 18, 2023 |
| NHLRC2 | 2 | Jul 12, 2023 |
| NIPA1 | 1 | Jul 12, 2023 |
| NIPBL | 2 | Aug 18, 2023 |
| NKX2-1 | 1 | Aug 18, 2023 |
| NLGN4X | 1 | Jul 12, 2023 |
| NLRC4 | 1 | Jul 12, 2023 |
| NLRP1 | 4 | Aug 18, 2023 |
| NLRP3 | 2 | Aug 18, 2023 |
| NOD2 | 3 | Aug 18, 2023 |
| NOG | 1 | Aug 18, 2023 |
| NONO | 1 | Jul 12, 2023 |
| NOTCH1 | 4 | Jul 12, 2023 |
| NOTCH3 | 2 | Aug 18, 2023 |
| NPC1 | 2 | Jul 12, 2023 |
| NPRL2 | 1 | Aug 18, 2023 |
| NPRL3 | 1 | Jul 12, 2023 |
| NR2F1 | 1 | Jul 12, 2023 |
| NR5A1 | 1 | Jul 12, 2023 |
| NRXN1 | 1 | Jul 12, 2023 |
| NSD1 | 18 | Aug 18, 2023 |
| NSD2 | 2 | Aug 18, 2023 |
| NSUN2 | 2 | Aug 18, 2023 |
| NT5DC1 | 1 | Jul 12, 2023 |
| NTHL1 | 9 | Aug 18, 2023 |
| NTRK2 | 1 | Jul 12, 2023 |
| OAT | 1 | Jul 12, 2023 |
| OBSL1 | 2 | Aug 18, 2023 |
| OCA2 | 1 | Aug 18, 2023 |
| ODC1 | 1 | Jul 12, 2023 |
| OFD1 | 4 | Aug 18, 2023 |
| OGT | 1 | Jul 12, 2023 |
| OTC | 1 | Aug 18, 2023 |
| OTOA | 2 | Aug 18, 2023 |
| OTUD5 | 1 | Aug 18, 2023 |
| OTX2 | 1 | Aug 18, 2023 |
| PACRG | 1 | Jul 12, 2023 |
| PACS1 | 2 | Aug 18, 2023 |
| PAH | 3 | Jul 12, 2023 |
| PAK3 | 1 | Aug 18, 2023 |
| PALB2 | 32 | Aug 18, 2023 |
| PAX9 | 2 | Aug 18, 2023 |
| PCCB | 2 | Jul 12, 2023 |
| PCNT | 3 | Aug 18, 2023 |
| PCSK1 | 2 | Jul 12, 2023 |
| PCSK9 | 2 | Jul 12, 2023 |
| PCYT2 | 1 | Jul 12, 2023 |
| PDE11A | 1 | Aug 18, 2023 |
| PDE8B | 1 | Aug 18, 2023 |
| PDGFRA | 9 | Jul 12, 2023 |
| PDGFRB | 1 | Jul 12, 2023 |
| PDYN | 1 | Jul 12, 2023 |
| PDYN-AS1 | 1 | Jul 12, 2023 |
| PEX12 | 2 | Jul 12, 2023 |
| PGK1 | 2 | Jul 12, 2023 |
| PHF6 | 1 | Jul 12, 2023 |
| PHF8 | 1 | Jul 12, 2023 |
| PHIP | 4 | Aug 18, 2023 |
| PHKA1 | 2 | Jul 12, 2023 |
| PHKA2 | 2 | Jul 12, 2023 |
| PHOX2B | 5 | Jul 12, 2023 |
| PHOX2B-AS1 | 1 | Jul 12, 2023 |
| PHYH | 2 | Aug 18, 2023 |
| PIDD1 | 1 | Aug 18, 2023 |
| PIGA | 2 | Jul 12, 2023 |
| PIGO | 3 | Aug 18, 2023 |
| PIGT | 1 | Jul 12, 2023 |
| PIGV | 1 | Jul 12, 2023 |
| PIK3CA | 3 | Jul 12, 2023 |
| PIK3CD | 1 | Jul 12, 2023 |
| PIK3R1 | 1 | Jul 12, 2023 |
| PIK3R2 | 4 | Jul 12, 2023 |
| PITX1 | 1 | Jul 12, 2023 |
| PKD1 | 2 | Aug 18, 2023 |
| PKP2 | 1 | Jul 12, 2023 |
| PLA2G6 | 1 | Jul 12, 2023 |
| PLCG2 | 4 | Aug 18, 2023 |
| PLEC | 2 | Aug 18, 2023 |
| PLN | 1 | Jul 12, 2023 |
| PLOD1 | 1 | Jul 12, 2023 |
| PLP1 | 1 | Jul 12, 2023 |
| PMM2 | 1 | Jul 12, 2023 |
| PMS2 | 27 | Aug 18, 2023 |
| PNPT1 | 1 | Jul 12, 2023 |
| POGZ | 1 | Jul 12, 2023 |
| POLA1 | 2 | Aug 18, 2023 |
| POLD1 | 18 | Jul 12, 2023 |
| POLE | 41 | Aug 18, 2023 |
| POLG | 7 | Aug 18, 2023 |
| POLGARF | 7 | Aug 18, 2023 |
| POLR2A | 1 | Aug 18, 2023 |
| POLR2F | 1 | Jul 12, 2023 |
| POLR3A | 2 | Jul 12, 2023 |
| POLR3B | 4 | Aug 18, 2023 |
| POMC | 2 | Jul 12, 2023 |
| POT1 | 1 | Jul 12, 2023 |
| POU3F3 | 2 | Jul 12, 2023 |
| PPFIA1 | 2 | Aug 18, 2023 |
| PPIP5K2 | 1 | Jul 12, 2023 |
| PPM1D | 1 | Aug 18, 2023 |
| PPOX | 1 | Jul 12, 2023 |
| PPP1R12A | 1 | Aug 18, 2023 |
| PPP2CA | 1 | Aug 18, 2023 |
| PRF1 | 5 | Jul 12, 2023 |
| PRKAR1A | 1 | Aug 18, 2023 |
| PRKN | 5 | Jul 12, 2023 |
| PRMT7 | 3 | Jul 12, 2023 |
| PROKR2 | 1 | Jul 12, 2023 |
| PROP1 | 1 | Jul 12, 2023 |
| PRPH2 | 1 | Aug 18, 2023 |
| PSMB4 | 1 | Aug 18, 2023 |
| PSMB9 | 1 | Aug 18, 2023 |
| PSMD12 | 1 | Aug 18, 2023 |
| PSTPIP1 | 2 | Aug 18, 2023 |
| PTCH1 | 23 | Aug 18, 2023 |
| PTEN | 7 | Aug 18, 2023 |
| PTPN11 | 2 | Aug 18, 2023 |
| PTPN22 | 1 | Aug 18, 2023 |
| PUF60 | 2 | Aug 18, 2023 |
| PUM1 | 3 | Aug 18, 2023 |
| PURA | 1 | Jul 12, 2023 |
| PYGL | 1 | Jul 12, 2023 |
| QARS1 | 1 | Jul 12, 2023 |
| RAB3GAP2 | 3 | Jul 12, 2023 |
| RAB9B | 1 | Jul 12, 2023 |
| RAD50 | 15 | Jul 12, 2023 |
| RAD51 | 1 | Jul 12, 2023 |
| RAD51C | 19 | Aug 18, 2023 |
| RAD51D | 9 | Jul 12, 2023 |
| RAD51L3-RFFL | 9 | Jul 12, 2023 |
| RAI1 | 1 | Jul 12, 2023 |
| RALA | 1 | Jul 12, 2023 |
| RANBP2 | 1 | Jul 12, 2023 |
| RARS1 | 1 | Jul 12, 2023 |
| RARS2 | 1 | Jul 12, 2023 |
| RASA1 | 1 | Aug 18, 2023 |
| RB1 | 9 | Aug 18, 2023 |
| RBM10 | 1 | Jul 12, 2023 |
| RBM20 | 1 | Aug 18, 2023 |
| RDH12 | 1 | Jul 12, 2023 |
| RECQL4 | 49 | Jul 12, 2023 |
| REEP1 | 1 | Aug 18, 2023 |
| RELA | 2 | Aug 18, 2023 |
| RELN | 4 | Aug 18, 2023 |
| RERE | 1 | Jul 12, 2023 |
| RET | 21 | Aug 18, 2023 |
| RFXAP | 1 | Jul 12, 2023 |
| RHBDF2 | 11 | Jul 12, 2023 |
| RIF1 | 1 | Jul 12, 2023 |
| RINT1 | 11 | Jul 12, 2023 |
| RIPK1 | 1 | Aug 18, 2023 |
| RIT1 | 1 | Jul 12, 2023 |
| RMRP | 2 | Aug 18, 2023 |
| RNASEH2B | 1 | Jul 12, 2023 |
| RNASEH2C | 2 | Jul 12, 2023 |
| RNF213 | 2 | Jul 12, 2023 |
| RNF43 | 9 | Jul 12, 2023 |
| RNU4ATAC | 2 | Aug 18, 2023 |
| ROBO3 | 2 | Jul 12, 2023 |
| ROR2 | 1 | Jul 12, 2023 |
| RP1L1 | 2 | Jul 12, 2023 |
| RPL36A-HNRNPH2 | 1 | Jul 12, 2023 |
| RPS6KA3 | 1 | Jul 12, 2023 |
| RUNX1 | 3 | Jul 12, 2023 |
| RUNX2 | 1 | Jul 12, 2023 |
| RYR1 | 7 | Aug 18, 2023 |
| RYR2 | 3 | Aug 18, 2023 |
| SAMD9 | 2 | Aug 18, 2023 |
| SAMD9L | 3 | Aug 18, 2023 |
| SAMHD1 | 1 | Jul 12, 2023 |
| SATB1 | 2 | Aug 18, 2023 |
| SBDS | 1 | Jul 12, 2023 |
| SBF1 | 2 | Aug 18, 2023 |
| SCN10A | 1 | Jul 12, 2023 |
| SCN1A | 5 | Aug 18, 2023 |
| SCN2A | 5 | Aug 18, 2023 |
| SCN3A | 1 | Jul 12, 2023 |
| SCN4A | 1 | Aug 18, 2023 |
| SCN8A | 6 | Aug 18, 2023 |
| SCYL1 | 1 | Aug 18, 2023 |
| SDHA | 16 | Jul 12, 2023 |
| SDHAF2 | 3 | Jul 12, 2023 |
| SDHB | 7 | Aug 18, 2023 |
| SDHC | 5 | Jul 12, 2023 |
| SDHD | 4 | Aug 18, 2023 |
| SETBP1 | 1 | Jul 12, 2023 |
| SETD1A | 5 | Aug 18, 2023 |
| SETD1B | 1 | Jul 12, 2023 |
| SFTA3 | 1 | Aug 18, 2023 |
| SGCD | 1 | Jul 12, 2023 |
| SGSH | 1 | Jul 12, 2023 |
| SHANK3 | 1 | Aug 18, 2023 |
| SHOX | 1 | Jul 12, 2023 |
| SIAH1 | 1 | Aug 18, 2023 |
| SIK1 | 1 | Jul 12, 2023 |
| SIN3A | 3 | Aug 18, 2023 |
| SKI | 2 | Jul 12, 2023 |
| SLC12A2 | 1 | Aug 18, 2023 |
| SLC12A6 | 1 | Aug 18, 2023 |
| SLC24A1 | 1 | Jul 12, 2023 |
| SLC25A11 | 1 | Jul 12, 2023 |
| SLC25A13 | 1 | Jul 12, 2023 |
| SLC25A4 | 1 | Jul 12, 2023 |
| SLC26A11 | 1 | Jul 12, 2023 |
| SLC26A2 | 2 | Jul 12, 2023 |
| SLC29A3 | 1 | Aug 18, 2023 |
| SLC2A1 | 2 | Aug 18, 2023 |
| SLC35A2 | 1 | Jul 12, 2023 |
| SLC36A1 | 2 | Aug 18, 2023 |
| SLC3A1 | 1 | Jul 12, 2023 |
| SLC46A1 | 1 | Jul 12, 2023 |
| SLC52A1 | 1 | Jul 12, 2023 |
| SLC52A3 | 1 | Jul 12, 2023 |
| SLC6A1 | 1 | Aug 18, 2023 |
| SLC6A19 | 1 | Jul 12, 2023 |
| SLC6A8 | 1 | Jul 12, 2023 |
| SLX4 | 52 | Jul 12, 2023 |
| SMAD2 | 1 | Aug 18, 2023 |
| SMAD4 | 7 | Aug 18, 2023 |
| SMAD6 | 1 | Jul 12, 2023 |
| SMARCA2 | 2 | Aug 18, 2023 |
| SMARCA4 | 17 | Jul 12, 2023 |
| SMARCB1 | 1 | Aug 18, 2023 |
| SMARCC2 | 1 | Aug 18, 2023 |
| SMC1A | 1 | Jul 12, 2023 |
| SMO | 2 | Jul 12, 2023 |
| SMPD1 | 3 | Jul 12, 2023 |
| SMS | 1 | Jul 12, 2023 |
| SNHG14 | 1 | Jul 12, 2023 |
| SNRNP200 | 1 | Aug 18, 2023 |
| SON | 2 | Aug 18, 2023 |
| SORD | 1 | Aug 18, 2023 |
| SOS1 | 1 | Aug 18, 2023 |
| SOX10 | 1 | Jul 12, 2023 |
| SOX4 | 1 | Jul 12, 2023 |
| SOX5 | 2 | Jul 12, 2023 |
| SPEN | 1 | Aug 18, 2023 |
| SPG11 | 5 | Aug 18, 2023 |
| SPG7 | 1 | Jul 12, 2023 |
| SPINK1 | 2 | Jul 12, 2023 |
| SPRED1 | 1 | Jul 12, 2023 |
| SPTAN1 | 1 | Aug 18, 2023 |
| SPTBN1 | 2 | Aug 18, 2023 |
| SPTBN1-AS2 | 1 | Aug 18, 2023 |
| SPTBN4 | 1 | Jul 12, 2023 |
| SPTLC2 | 1 | Jul 12, 2023 |
| SQSTM1 | 1 | Jul 12, 2023 |
| SRCAP | 1 | Jul 12, 2023 |
| SSR4 | 1 | Jul 12, 2023 |
| STIL | 1 | Jul 12, 2023 |
| STIM1 | 2 | Aug 18, 2023 |
| STK11 | 3 | Jul 12, 2023 |
| STX1B | 2 | Aug 18, 2023 |
| STXBP1 | 1 | Aug 18, 2023 |
| SUFU | 10 | Jul 12, 2023 |
| SUPT3H | 1 | Jul 12, 2023 |
| SYN1 | 1 | Jul 12, 2023 |
| SYNE1 | 1 | Jul 12, 2023 |
| SYNGAP1 | 1 | Aug 18, 2023 |
| SYNGAP1-AS1 | 1 | Aug 18, 2023 |
| TAF1 | 2 | Aug 18, 2023 |
| TAF2 | 5 | Jul 12, 2023 |
| TAFAZZIN | 1 | Jul 12, 2023 |
| TANC2 | 2 | Aug 18, 2023 |
| TAOK1 | 3 | Aug 18, 2023 |
| TBCD | 1 | Jul 12, 2023 |
| TBR1 | 4 | Aug 18, 2023 |
| TBX6 | 2 | Aug 18, 2023 |
| TCF4 | 4 | Aug 18, 2023 |
| TCOF1 | 1 | Jul 12, 2023 |
| TCTN3 | 1 | Jul 12, 2023 |
| TELO2 | 1 | Jul 12, 2023 |
| TERT | 9 | Jul 12, 2023 |
| TFAP2B | 1 | Aug 18, 2023 |
| TG | 2 | Jul 12, 2023 |
| TGFB2 | 1 | Jul 12, 2023 |
| TGFB3 | 1 | Aug 18, 2023 |
| TGFBR1 | 1 | Aug 18, 2023 |
| TGFBR2 | 1 | Aug 18, 2023 |
| TGM5 | 1 | Aug 18, 2023 |
| TH2-LCR | 1 | Jul 12, 2023 |
| TH2LCRR | 4 | Jul 12, 2023 |
| THSD1 | 1 | Aug 18, 2023 |
| TICAM1 | 1 | Aug 18, 2023 |
| TKT | 1 | Jul 12, 2023 |
| TLR8 | 1 | Aug 18, 2023 |
| TLR8-AS1 | 1 | Aug 18, 2023 |
| TLR9 | 1 | Aug 18, 2023 |
| TMEM127 | 2 | Jul 12, 2023 |
| TMEM67 | 1 | Jul 12, 2023 |
| TMEM70 | 1 | Aug 18, 2023 |
| TMTC3 | 1 | Jul 12, 2023 |
| TNFAIP3 | 3 | Jul 12, 2023 |
| TNFRSF11A | 1 | Jul 12, 2023 |
| TNFRSF1A | 1 | Aug 18, 2023 |
| TNNT2 | 1 | Jul 12, 2023 |
| TNNT3 | 1 | Aug 18, 2023 |
| TNPO2 | 1 | Aug 18, 2023 |
| TNPO3 | 1 | Jul 12, 2023 |
| TNRC6B | 1 | Aug 18, 2023 |
| TNXB | 2 | Aug 18, 2023 |
| TOM1 | 1 | Aug 18, 2023 |
| TP53 | 25 | Aug 18, 2023 |
| TP63 | 1 | Jul 12, 2023 |
| TPP1 | 1 | Jul 12, 2023 |
| TRAK1 | 2 | Jul 12, 2023 |
| TREX1 | 2 | Jul 12, 2023 |
| TRIM2 | 2 | Jul 12, 2023 |
| TRIOBP | 3 | Jul 12, 2023 |
| TRIP12 | 1 | Aug 18, 2023 |
| TRRAP | 1 | Aug 18, 2023 |
| TSC1 | 17 | Aug 18, 2023 |
| TSC2 | 43 | Aug 18, 2023 |
| TSPAN31 | 1 | Jul 12, 2023 |
| TSPOAP1 | 1 | Aug 18, 2023 |
| TTN | 1 | Aug 18, 2023 |
| TTN-AS1 | 1 | Aug 18, 2023 |
| TTPA | 1 | Jul 12, 2023 |
| TUBB2A | 1 | Jul 12, 2023 |
| TUBB3 | 1 | Aug 18, 2023 |
| TUBB4A | 1 | Jul 12, 2023 |
| TUBGCP2 | 1 | Jul 12, 2023 |
| TUBGCP6 | 1 | Jul 12, 2023 |
| TYR | 1 | Jul 12, 2023 |
| U2AF1 | 1 | Aug 18, 2023 |
| UBA1 | 3 | Aug 18, 2023 |
| UBE3A | 1 | Jul 12, 2023 |
| UBE4A | 1 | Aug 18, 2023 |
| UGDH | 1 | Jul 12, 2023 |
| UGT1A | 2 | Jul 12, 2023 |
| UGT1A1 | 2 | Jul 12, 2023 |
| UGT1A10 | 2 | Jul 12, 2023 |
| UGT1A3 | 2 | Jul 12, 2023 |
| UGT1A4 | 2 | Jul 12, 2023 |
| UGT1A5 | 2 | Jul 12, 2023 |
| UGT1A6 | 2 | Jul 12, 2023 |
| UGT1A7 | 2 | Jul 12, 2023 |
| UGT1A8 | 2 | Jul 12, 2023 |
| UGT1A9 | 2 | Jul 12, 2023 |
| UPB1 | 1 | Jul 12, 2023 |
| USB1 | 1 | Aug 18, 2023 |
| USH2A | 2 | Aug 18, 2023 |
| VDR | 1 | Jul 12, 2023 |
| VHL | 8 | Jul 12, 2023 |
| VMA21 | 1 | Jul 12, 2023 |
| VPS13A | 1 | Jul 12, 2023 |
| VPS13B | 7 | Aug 18, 2023 |
| VRK2 | 2 | Jul 12, 2023 |
| VWF | 1 | Jul 12, 2023 |
| WAC | 1 | Aug 18, 2023 |
| WARS1 | 1 | Jul 12, 2023 |
| WASF1 | 1 | Jul 12, 2023 |
| WDR26 | 1 | Jul 12, 2023 |
| WDR45 | 1 | Jul 12, 2023 |
| WFS1 | 1 | Jul 12, 2023 |
| WNT10A | 3 | Aug 18, 2023 |
| WRN | 19 | Jul 12, 2023 |
| WT1 | 6 | Jul 12, 2023 |
| XPA | 9 | Jul 12, 2023 |
| XPC | 15 | Jul 12, 2023 |
| XRCC2 | 3 | Jul 12, 2023 |
| YAP1 | 2 | Jul 12, 2023 |
| YARS1 | 1 | Aug 18, 2023 |
| YWHAE | 1 | Aug 18, 2023 |
| ZBTB18 | 2 | Aug 18, 2023 |
| ZBTB20 | 1 | Jul 12, 2023 |
| ZBTB20-AS1 | 1 | Jul 12, 2023 |
| ZBTB24 | 1 | Jul 12, 2023 |
| ZC4H2 | 1 | Jul 12, 2023 |
| ZDHHC9 | 3 | Aug 18, 2023 |
| ZFYVE27 | 1 | Jul 12, 2023 |
| ZMIZ1 | 1 | Aug 18, 2023 |
| ZMYM2 | 1 | Aug 18, 2023 |
| ZMYND11 | 1 | Aug 18, 2023 |
| ZNF142 | 2 | Jul 12, 2023 |
| ZNF276 | 11 | Jul 12, 2023 |
| ZNF292 | 1 | Jul 12, 2023 |
| ZNFX1 | 1 | Aug 18, 2023 |
| ZSWIM6 | 1 | Jul 12, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | Oct 1, 2015 |
| not provided | 3093 | Aug 18, 2023 |