Center for Genomic Medicine (Rigshospitalet, Copenhagen University Hospital), GM4113, RH
General information
Personnel
- Maria Rossing, Principal Investigator
Phone: +45 35453016
Email: caroline.maria.rossing@regionh.dk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 10176
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCB11 | 3 | Mar 4, 2025 |
| ABCB4 | 2 | Mar 4, 2025 |
| ABCB7 | 2 | Mar 4, 2025 |
| ABCC4 | 2 | Mar 4, 2025 |
| ABCG8 | 1 | Mar 4, 2025 |
| ABRAXAS1 | 1 | Mar 4, 2025 |
| ACADM | 1 | Mar 4, 2025 |
| ACD | 93 | Mar 4, 2025 |
| ACTB | 1 | Mar 4, 2025 |
| ACTG1 | 1 | Mar 4, 2025 |
| ACTN1 | 2 | Mar 4, 2025 |
| ACVRL1 | 1 | Mar 4, 2025 |
| ADAMTS13 | 4 | Mar 4, 2025 |
| ADAR | 1 | Mar 4, 2025 |
| AICDA | 1 | Mar 4, 2025 |
| AIMP2 | 3 | Mar 4, 2025 |
| AIP | 1 | Mar 4, 2025 |
| AIRE | 1 | Mar 4, 2025 |
| AKT1 | 2 | Mar 4, 2025 |
| AKT2 | 1 | Mar 4, 2025 |
| AKT3 | 1 | Mar 4, 2025 |
| ALAS2 | 2 | Mar 4, 2025 |
| ALK | 4 | Mar 4, 2025 |
| ALPL | 6 | Mar 4, 2025 |
| AMBN | 2 | Mar 4, 2025 |
| AMER1 | 2 | Mar 4, 2025 |
| ANK1 | 11 | Mar 4, 2025 |
| ANKRD11 | 1 | Mar 4, 2025 |
| ANKRD26 | 1 | Mar 4, 2025 |
| AP1S3 | 1 | Mar 4, 2025 |
| AP2S1 | 14 | Mar 4, 2025 |
| APC | 436 | Mar 4, 2025 |
| AR | 3 | Mar 4, 2025 |
| AREL1 | 1 | Mar 4, 2025 |
| ARID1A | 26 | Mar 4, 2025 |
| ARID1B | 2 | Mar 4, 2025 |
| ARID2 | 3 | Mar 4, 2025 |
| ARL14EP | 1 | Mar 4, 2025 |
| ARPC1B | 2 | Mar 4, 2025 |
| ASMT | 2 | Mar 4, 2025 |
| ASXL1 | 3 | Mar 4, 2025 |
| ATM | 588 | Mar 4, 2025 |
| ATP1A1 | 1 | Mar 4, 2025 |
| ATP1A1-AS1 | 1 | Mar 4, 2025 |
| ATP7B | 3 | Mar 4, 2025 |
| ATP8B1 | 3 | Mar 4, 2025 |
| ATP8B1-AS1 | 1 | Mar 4, 2025 |
| ATR | 4 | Mar 4, 2025 |
| ATRIP | 1 | Mar 4, 2025 |
| ATRIP-TREX1 | 1 | Mar 4, 2025 |
| ATRX | 29 | Mar 4, 2025 |
| AXIN1 | 1 | Mar 4, 2025 |
| AXIN2 | 177 | Mar 4, 2025 |
| B2M | 8 | Mar 4, 2025 |
| BAAT | 2 | Mar 4, 2025 |
| BAP1 | 155 | Mar 4, 2025 |
| BARD1 | 130 | Mar 4, 2025 |
| BCAS3 | 2 | Mar 4, 2025 |
| BCAS3-AS1 | 2 | Mar 4, 2025 |
| BCL2 | 5 | Mar 4, 2025 |
| BCL6 | 1 | Mar 4, 2025 |
| BCL6-AS1 | 1 | Mar 4, 2025 |
| BCL7A | 2 | Mar 4, 2025 |
| BCOR | 1 | Mar 4, 2025 |
| BCORL1 | 1 | Mar 4, 2025 |
| BIRC3 | 2 | Mar 4, 2025 |
| BLM | 2 | Mar 4, 2025 |
| BLVRA | 1 | Mar 4, 2025 |
| BMPR1A | 93 | Mar 4, 2025 |
| BORCS8-MEF2B | 1 | Mar 4, 2025 |
| BPTF | 1 | Mar 4, 2025 |
| BRAF | 10 | Mar 4, 2025 |
| BRCA1 | 386 | Mar 4, 2025 |
| BRCA2 | 612 | Mar 4, 2025 |
| BRIP1 | 190 | Mar 4, 2025 |
| BTG1 | 1 | Mar 4, 2025 |
| BTK | 3 | Mar 4, 2025 |
| C11orf65 | 212 | Mar 4, 2025 |
| C1R | 1 | Mar 4, 2025 |
| C1S | 1 | Mar 4, 2025 |
| C2 | 1 | Mar 4, 2025 |
| C3 | 6 | Mar 4, 2025 |
| C3AR1 | 1 | Feb 4, 2016 |
| C6 | 1 | Mar 4, 2025 |
| C7 | 2 | Mar 4, 2025 |
| CA5A | 1 | Mar 4, 2025 |
| CACNA1H | 3 | Mar 4, 2025 |
| CARD11 | 2 | Mar 4, 2025 |
| CARMIL2 | 1 | Mar 4, 2025 |
| CASK | 1 | Mar 4, 2025 |
| CASP10 | 1 | Mar 4, 2025 |
| CASP8 | 1 | Mar 4, 2025 |
| CASR | 57 | Mar 4, 2025 |
| CBFB | 1 | Mar 4, 2025 |
| CCDC141 | 2 | Mar 4, 2025 |
| CCDST | 5 | Mar 4, 2025 |
| CCND1 | 2 | Mar 4, 2025 |
| CCND3 | 2 | Mar 4, 2025 |
| CCNE1 | 1 | Mar 4, 2025 |
| CD46 | 4 | Mar 4, 2025 |
| CD55 | 1 | Mar 4, 2025 |
| CD58 | 1 | Mar 4, 2025 |
| CD70 | 1 | Mar 4, 2025 |
| CD79B | 2 | Mar 4, 2025 |
| CDC42 | 1 | Mar 4, 2025 |
| CDC73 | 22 | Mar 4, 2025 |
| CDH1 | 197 | Mar 4, 2025 |
| CDK12 | 5 | Mar 4, 2025 |
| CDK4 | 39 | Mar 4, 2025 |
| CDKN1B | 10 | Mar 4, 2025 |
| CDKN2A | 77 | Mar 4, 2025 |
| CDKN2A-AS1 | 1 | Mar 4, 2025 |
| CDKN2B | 18 | Mar 4, 2025 |
| CDKN2B-AS1 | 18 | Mar 4, 2025 |
| CDKN2C | 1 | Mar 4, 2025 |
| CFAP126 | 1 | Mar 4, 2025 |
| CFH | 3 | Mar 4, 2025 |
| CFHR5 | 1 | Mar 4, 2025 |
| CFI | 4 | Mar 4, 2025 |
| CFTR | 2 | Mar 4, 2025 |
| CFTR-AS1 | 1 | Mar 4, 2025 |
| CHD7 | 1 | Mar 4, 2025 |
| CHD8 | 1 | Mar 4, 2025 |
| CHEK1 | 1 | Mar 4, 2025 |
| CHEK2 | 153 | Mar 4, 2025 |
| CHURC1-FNTB | 2 | Mar 4, 2025 |
| CIC | 5 | Mar 4, 2025 |
| CIITA | 1 | Mar 4, 2025 |
| CLCN7 | 1 | Mar 4, 2025 |
| CLCNKB | 3 | Mar 4, 2025 |
| COL1A1 | 1 | Mar 4, 2025 |
| COL3A1 | 1 | Mar 4, 2025 |
| COL5A1 | 2 | Mar 4, 2025 |
| COL7A1 | 2 | Mar 4, 2025 |
| COMP | 1 | Mar 4, 2025 |
| CR2 | 4 | Mar 4, 2025 |
| CREBBP | 15 | Mar 4, 2025 |
| CSDE1 | 1 | Mar 4, 2025 |
| CTCF | 2 | Mar 4, 2025 |
| CTLA4 | 1 | Mar 4, 2025 |
| CTNNA1 | 44 | Mar 4, 2025 |
| CTNNB1 | 9 | Mar 4, 2025 |
| CTNND2 | 1 | Mar 4, 2025 |
| CUL4B | 1 | Mar 4, 2025 |
| CYB5R3 | 1 | Mar 4, 2025 |
| CYBB | 1 | Mar 4, 2025 |
| CYLD | 1 | Mar 4, 2025 |
| CYLD-AS2 | 1 | Mar 4, 2025 |
| CYP27B1 | 1 | Mar 4, 2025 |
| DCPS | 1 | Mar 4, 2025 |
| DDX3X | 2 | Mar 4, 2025 |
| DDX41 | 1 | Mar 4, 2025 |
| DEPDC5 | 1 | Mar 4, 2025 |
| DHCR7 | 1 | Mar 4, 2025 |
| DHFR | 66 | Mar 4, 2025 |
| DICER1 | 272 | Mar 4, 2025 |
| DIPK1A | 1 | Mar 4, 2025 |
| DIS3 | 1 | Mar 4, 2025 |
| DNASE1L3 | 1 | Mar 4, 2025 |
| DNMT3A | 3 | Mar 4, 2025 |
| DOCK2 | 1 | Mar 4, 2025 |
| DOCK8 | 2 | Mar 4, 2025 |
| DOK7 | 1 | Mar 4, 2025 |
| DPYSL5 | 1 | Mar 4, 2025 |
| DRC9 | 1 | Mar 4, 2025 |
| DSPP | 1 | Mar 4, 2025 |
| DTX1 | 2 | Mar 4, 2025 |
| DYSF | 1 | Mar 4, 2025 |
| EBF1 | 3 | Mar 4, 2025 |
| EED | 1 | Mar 4, 2025 |
| EGFR | 30 | Mar 5, 2025 |
| EGFR-AS1 | 5 | Mar 5, 2025 |
| EGLN1 | 5 | Mar 4, 2025 |
| EGLN2 | 2 | Mar 4, 2025 |
| EGR2 | 1 | Mar 4, 2025 |
| ELANE | 1 | Mar 4, 2025 |
| ELP1 | 1 | Mar 4, 2025 |
| EP300 | 9 | Mar 4, 2025 |
| EPAS1 | 8 | Mar 4, 2025 |
| EPB41 | 3 | Mar 4, 2025 |
| EPCAM | 28 | Mar 4, 2025 |
| EPHA3 | 3 | Mar 4, 2025 |
| EPHB2 | 2 | Mar 4, 2025 |
| EPO | 1 | Mar 4, 2025 |
| EPOR | 1 | Mar 4, 2025 |
| ERAP1 | 1 | Mar 4, 2025 |
| ERBB2 | 8 | Mar 4, 2025 |
| ERBB3 | 6 | Mar 4, 2025 |
| ERCC2 | 4 | Mar 4, 2025 |
| ERCC3 | 1 | Mar 4, 2025 |
| ERCC4 | 1 | Mar 4, 2025 |
| ESR1 | 7 | Mar 4, 2025 |
| ESR2 | 1 | Mar 4, 2025 |
| ETV6 | 6 | Mar 4, 2025 |
| EXT2 | 1 | Mar 4, 2025 |
| EZH2 | 2 | Mar 4, 2025 |
| F10 | 3 | Mar 4, 2025 |
| F11 | 2 | Mar 4, 2025 |
| F13A1 | 1 | Mar 4, 2025 |
| F13B | 2 | Mar 4, 2025 |
| F2 | 1 | Mar 4, 2025 |
| F3 | 1 | Mar 4, 2025 |
| F5 | 4 | Mar 4, 2025 |
| F7 | 2 | Mar 4, 2025 |
| F8 | 4 | Mar 4, 2025 |
| F9 | 2 | Mar 4, 2025 |
| FAH | 2 | Mar 4, 2025 |
| FAN1 | 1 | Mar 4, 2025 |
| FANCA | 5 | Mar 4, 2025 |
| FANCD2 | 2 | Mar 4, 2025 |
| FANCD2OS | 1 | Mar 4, 2025 |
| FANCL | 3 | Mar 4, 2025 |
| FAS | 6 | Mar 4, 2025 |
| FAT1 | 8 | Mar 4, 2025 |
| FAT4 | 4 | Mar 4, 2025 |
| FBN1 | 1 | Mar 4, 2025 |
| FBXO11 | 1 | Mar 4, 2025 |
| FBXW11 | 1 | Mar 4, 2025 |
| FBXW7 | 3 | Mar 4, 2025 |
| FGA | 2 | Mar 4, 2025 |
| FGB | 1 | Mar 4, 2025 |
| FGF16 | 1 | Mar 4, 2025 |
| FGF21 | 1 | Mar 4, 2025 |
| FGFR1 | 2 | Mar 4, 2025 |
| FGFR2 | 5 | Mar 4, 2025 |
| FGFR3 | 2 | Mar 4, 2025 |
| FGFR4 | 3 | Mar 4, 2025 |
| FGG | 3 | Mar 4, 2025 |
| FH | 110 | Mar 4, 2025 |
| FLCN | 152 | Mar 4, 2025 |
| FLG | 5 | Mar 4, 2025 |
| FLNA | 1 | Mar 4, 2025 |
| FLT3 | 1 | Mar 4, 2025 |
| FLT4 | 1 | Mar 4, 2025 |
| FNTB | 2 | Mar 4, 2025 |
| FOXA1 | 1 | Mar 4, 2025 |
| FOXO1 | 1 | Mar 4, 2025 |
| FOXO3 | 1 | Mar 4, 2025 |
| FTL | 1 | Mar 4, 2025 |
| G6PD | 5 | Mar 4, 2025 |
| GABBR1 | 1 | Mar 4, 2025 |
| GABRA1 | 1 | Mar 4, 2025 |
| GABRG2 | 1 | Mar 4, 2025 |
| GALC | 1 | Mar 4, 2025 |
| GALNT12 | 1 | Mar 4, 2025 |
| GATA1 | 2 | Mar 4, 2025 |
| GATA2 | 3 | Mar 4, 2025 |
| GATA3 | 6 | Mar 4, 2025 |
| GFI1B | 2 | Mar 4, 2025 |
| GH-LCR | 2 | Mar 4, 2025 |
| GIGYF1 | 1 | Mar 4, 2025 |
| GINS1 | 1 | Mar 4, 2025 |
| GJB2 | 2 | Mar 4, 2025 |
| GLA | 1 | Mar 4, 2025 |
| GNA11 | 34 | Mar 4, 2025 |
| GNA13 | 2 | Mar 4, 2025 |
| GNAI2 | 1 | Mar 4, 2025 |
| GNAI3 | 1 | Mar 4, 2025 |
| GNAQ | 2 | Mar 4, 2025 |
| GNAS | 6 | Mar 4, 2025 |
| GP1BA | 4 | Mar 4, 2025 |
| GP1BB | 2 | Mar 4, 2025 |
| GPAA1 | 2 | Mar 4, 2025 |
| GPI | 2 | Mar 4, 2025 |
| GREM1 | 27 | Mar 4, 2025 |
| GREM1-AS1 | 5 | Mar 4, 2025 |
| GRIN2A | 2 | Mar 4, 2025 |
| GSEC | 1 | Mar 4, 2025 |
| GSN | 1 | Mar 4, 2025 |
| H3C2 | 1 | Mar 4, 2025 |
| HAMP | 4 | Mar 4, 2025 |
| HAX1 | 1 | Mar 4, 2025 |
| HBA1 | 3 | Mar 4, 2025 |
| HBA2 | 4 | Mar 4, 2025 |
| HBB | 13 | Mar 4, 2025 |
| HBG1 | 1 | Mar 4, 2025 |
| HBG2 | 1 | Mar 4, 2025 |
| HERC2 | 2 | Mar 4, 2025 |
| HFE | 5 | Mar 4, 2025 |
| HFE-AS1 | 2 | Mar 4, 2025 |
| HGD | 1 | Mar 4, 2025 |
| HGF | 1 | Mar 4, 2025 |
| HJV | 3 | Mar 4, 2025 |
| HK1 | 2 | Mar 4, 2025 |
| HNF1A | 2 | Mar 4, 2025 |
| HNF4A | 1 | Mar 4, 2025 |
| HNRNPK | 1 | Mar 4, 2025 |
| HNRNPK-AS1 | 1 | Mar 4, 2025 |
| HOXB13 | 1 | Mar 4, 2025 |
| HOXD13 | 1 | Jul 31, 2024 |
| HRAS | 1 | Mar 4, 2025 |
| HSALR1 | 10 | Mar 4, 2025 |
| HSD11B2 | 1 | Mar 4, 2025 |
| ID3 | 1 | Mar 4, 2025 |
| IDH1 | 6 | Mar 4, 2025 |
| IDH2 | 3 | Mar 4, 2025 |
| IGF1R | 1 | Mar 4, 2025 |
| IKZF5 | 1 | Mar 4, 2025 |
| IL12RB1 | 1 | Mar 4, 2025 |
| IL17F | 1 | Mar 4, 2025 |
| INO80 | 1 | Mar 4, 2025 |
| INSL6 | 1 | Mar 4, 2025 |
| IRF7 | 1 | Mar 4, 2025 |
| IRF8 | 1 | Mar 4, 2025 |
| IRS4 | 1 | Mar 4, 2025 |
| ITGA2B | 2 | Mar 4, 2025 |
| ITGB3 | 2 | Mar 4, 2025 |
| ITPKB | 2 | Mar 4, 2025 |
| JAG1 | 1 | Mar 4, 2025 |
| JAGN1 | 1 | Mar 4, 2025 |
| JAK2 | 1 | Mar 4, 2025 |
| JAK3 | 4 | Mar 4, 2025 |
| KARS1 | 1 | Mar 4, 2025 |
| KCNN4 | 1 | Mar 4, 2025 |
| KCNT1 | 1 | Mar 4, 2025 |
| KDM5C | 1 | Mar 4, 2025 |
| KDM6A | 6 | Mar 4, 2025 |
| KDR | 1 | Mar 4, 2025 |
| KEAP1 | 4 | Mar 4, 2025 |
| KLF1 | 2 | Mar 4, 2025 |
| KLF2 | 5 | Mar 4, 2025 |
| KLHL14 | 2 | Mar 4, 2025 |
| KLHL3 | 1 | Mar 4, 2025 |
| KLHL6 | 2 | Mar 4, 2025 |
| KLLN | 2 | Mar 4, 2025 |
| KMT2B | 1 | Mar 4, 2025 |
| KMT2C | 11 | Mar 4, 2025 |
| KMT2D | 30 | Mar 4, 2025 |
| KRAS | 17 | Mar 4, 2025 |
| LATS1 | 1 | Mar 4, 2025 |
| LDLR | 4 | Mar 4, 2025 |
| LOC100507346 | 14 | Mar 4, 2025 |
| LOC106099062 | 12 | Mar 4, 2025 |
| LOC106099064 | 1 | Mar 4, 2025 |
| LOC106099065 | 1 | Mar 4, 2025 |
| LOC106501713 | 3 | Mar 4, 2025 |
| LOC106736614 | 2 | Mar 4, 2025 |
| LOC106804612 | 4 | Mar 4, 2025 |
| LOC106804613 | 2 | Mar 4, 2025 |
| LOC107133510 | 13 | Mar 4, 2025 |
| LOC107303338 | 1 | Mar 4, 2025 |
| LOC107303340 | 33 | Mar 4, 2025 |
| LOC107982234 | 2 | Mar 4, 2025 |
| LOC107988042 | 1 | Mar 4, 2025 |
| LOC109279247 | 1 | Mar 4, 2025 |
| LOC109504725 | 1 | Mar 4, 2025 |
| LOC110006319 | 1 | Mar 4, 2025 |
| LOC110806263 | 20 | Mar 4, 2025 |
| LOC111811965 | 2 | Mar 4, 2025 |
| LOC112486223 | 1 | Mar 4, 2025 |
| LOC114803475 | 1 | Mar 4, 2025 |
| LOC117125591 | 2 | Mar 4, 2025 |
| LOC126806210 | 1 | Mar 4, 2025 |
| LOC126806658 | 9 | Mar 4, 2025 |
| LOC126806878 | 1 | Mar 4, 2025 |
| LOC126807254 | 1 | Mar 4, 2025 |
| LOC126807255 | 2 | Mar 4, 2025 |
| LOC126807437 | 4 | Mar 4, 2025 |
| LOC126859807 | 1 | Mar 4, 2025 |
| LOC126860368 | 1 | Mar 4, 2025 |
| LOC126860757 | 1 | Mar 4, 2025 |
| LOC126861201 | 1 | Mar 4, 2025 |
| LOC126861339 | 1 | Mar 4, 2025 |
| LOC126861452 | 1 | Mar 4, 2025 |
| LOC126861520 | 2 | Mar 4, 2025 |
| LOC126862264 | 1 | Mar 4, 2025 |
| LOC126862553 | 1 | Mar 4, 2025 |
| LOC126862571 | 61 | Mar 4, 2025 |
| LOC126862987 | 1 | Mar 4, 2025 |
| LOC126863252 | 1 | Mar 4, 2025 |
| LOC129390903 | 3 | Mar 4, 2025 |
| LOC129929541 | 3 | Mar 4, 2025 |
| LOC129929542 | 1 | Mar 4, 2025 |
| LOC129929837 | 7 | Mar 4, 2025 |
| LOC129931274 | 1 | Mar 4, 2025 |
| LOC129933707 | 2 | Mar 4, 2025 |
| LOC129934333 | 1 | Mar 4, 2025 |
| LOC129936413 | 1 | Mar 4, 2025 |
| LOC129994371 | 6 | Mar 4, 2025 |
| LOC129994918 | 1 | Mar 4, 2025 |
| LOC129995155 | 1 | Mar 4, 2025 |
| LOC129996315 | 1 | Mar 4, 2025 |
| LOC130001603 | 9 | Mar 4, 2025 |
| LOC130001606 | 5 | Mar 4, 2025 |
| LOC130001608 | 7 | Mar 4, 2025 |
| LOC130002133 | 11 | Mar 4, 2025 |
| LOC130004273 | 2 | Mar 4, 2025 |
| LOC130004274 | 1 | Mar 4, 2025 |
| LOC130004599 | 2 | Mar 4, 2025 |
| LOC130004614 | 4 | Mar 4, 2025 |
| LOC130006055 | 1 | Mar 4, 2025 |
| LOC130008148 | 4 | Mar 4, 2025 |
| LOC130009021 | 2 | Mar 4, 2025 |
| LOC130009266 | 16 | Mar 4, 2025 |
| LOC130055403 | 3 | Mar 4, 2025 |
| LOC130055850 | 2 | Mar 4, 2025 |
| LOC130058209 | 3 | Mar 4, 2025 |
| LOC130059175 | 1 | Mar 4, 2025 |
| LOC130059290 | 3 | Mar 4, 2025 |
| LOC130060044 | 1 | Mar 4, 2025 |
| LOC130061310 | 2 | Mar 4, 2025 |
| LOC130061360 | 2 | Mar 4, 2025 |
| LOC130062676 | 3 | Mar 4, 2025 |
| LOC130062899 | 11 | Mar 4, 2025 |
| LOC130067016 | 1 | Mar 4, 2025 |
| LOC130068449 | 1 | Mar 4, 2025 |
| LPAR6 | 1 | Mar 4, 2025 |
| LRBA | 3 | Mar 4, 2025 |
| LRP1B | 3 | Mar 4, 2025 |
| LRP5 | 1 | Mar 4, 2025 |
| LRRC56 | 1 | Mar 4, 2025 |
| LTB | 1 | Mar 4, 2025 |
| LTBP1 | 1 | Mar 4, 2025 |
| LTBR | 1 | Mar 4, 2025 |
| LYN | 1 | Mar 4, 2025 |
| LZTR1 | 4 | Mar 4, 2025 |
| MADD | 1 | Mar 4, 2025 |
| MAN2C1 | 2 | Mar 4, 2025 |
| MAP2K1 | 5 | Mar 4, 2025 |
| MAP2K4 | 2 | Mar 4, 2025 |
| MAP3K6 | 2 | Mar 4, 2025 |
| MAPK1 | 1 | Mar 4, 2025 |
| MAPK3 | 1 | Mar 4, 2025 |
| MASTL | 1 | Mar 4, 2025 |
| MAX | 10 | Mar 4, 2025 |
| MAX-AS1 | 1 | Mar 4, 2025 |
| MC1R | 1 | Mar 4, 2025 |
| MDH2 | 7 | Mar 4, 2025 |
| MDM2 | 1 | Mar 4, 2025 |
| MED13L | 1 | Mar 4, 2025 |
| MEF2B | 1 | Mar 4, 2025 |
| MEF2C | 1 | Mar 4, 2025 |
| MEFV | 3 | Mar 4, 2025 |
| MEN1 | 34 | Mar 4, 2025 |
| MET | 181 | Mar 4, 2025 |
| MFSD11 | 1 | Mar 4, 2025 |
| MIR4733HG | 2 | Mar 4, 2025 |
| MITF | 17 | Mar 4, 2025 |
| MLH1 | 231 | Mar 4, 2025 |
| MLH3 | 206 | Mar 4, 2025 |
| MMACHC | 1 | Mar 4, 2025 |
| MPL | 1 | Mar 4, 2025 |
| MPZ | 1 | Mar 4, 2025 |
| MRE11 | 1 | Mar 4, 2025 |
| MSH2 | 247 | Mar 4, 2025 |
| MSH3 | 265 | Mar 4, 2025 |
| MSH6 | 308 | Mar 4, 2025 |
| MTMR10 | 1 | Mar 4, 2025 |
| MTOR | 2 | Mar 4, 2025 |
| MUTYH | 143 | Mar 4, 2025 |
| MVK | 2 | Mar 4, 2025 |
| MVP-DT | 1 | Mar 4, 2025 |
| MYC | 5 | Mar 4, 2025 |
| MYCN | 1 | Mar 4, 2025 |
| MYCNOS | 1 | Mar 4, 2025 |
| MYD88 | 2 | Mar 4, 2025 |
| MYH9 | 4 | Mar 4, 2025 |
| MYO7A | 1 | Mar 4, 2025 |
| NAA10 | 1 | Mar 4, 2025 |
| NBEA | 1 | Mar 4, 2025 |
| NBEAL2 | 1 | Mar 4, 2025 |
| NBN | 4 | Mar 4, 2025 |
| NEK10 | 1 | Mar 4, 2025 |
| NF1 | 58 | Mar 4, 2025 |
| NF2 | 9 | Mar 4, 2025 |
| NFE2L2 | 2 | Mar 4, 2025 |
| NFKB1 | 1 | Mar 4, 2025 |
| NFKB2 | 3 | Mar 4, 2025 |
| NFKBIA | 1 | Mar 4, 2025 |
| NFKBIE | 1 | Mar 4, 2025 |
| NIPBL | 1 | Mar 4, 2025 |
| NKIRAS1 | 1 | Mar 4, 2025 |
| NLRC3 | 2 | Mar 4, 2025 |
| NLRC4 | 1 | Mar 4, 2025 |
| NLRP3 | 2 | Mar 4, 2025 |
| NOTCH1 | 7 | Mar 4, 2025 |
| NOTCH2 | 3 | Mar 4, 2025 |
| NOTCH3 | 3 | Mar 4, 2025 |
| NR3C1 | 1 | Mar 4, 2025 |
| NRAS | 6 | Mar 4, 2025 |
| NSD1 | 1 | Mar 4, 2025 |
| NTHL1 | 85 | Mar 4, 2025 |
| NTRK1 | 1 | Mar 4, 2025 |
| NTRK2 | 1 | Mar 4, 2025 |
| NTRK3 | 1 | Mar 4, 2025 |
| OMG | 1 | Mar 4, 2025 |
| OSBPL10 | 1 | Mar 4, 2025 |
| PALB2 | 217 | Mar 4, 2025 |
| PBRM1 | 3 | Mar 4, 2025 |
| PCM1 | 1 | Mar 4, 2025 |
| PDE4D | 1 | Mar 4, 2025 |
| PDGFRA | 3 | Mar 4, 2025 |
| PFKM | 1 | Mar 4, 2025 |
| PGK1 | 1 | Mar 4, 2025 |
| PGM3 | 1 | Mar 4, 2025 |
| PHEX | 1 | Mar 4, 2025 |
| PIEZO1 | 30 | Mar 4, 2025 |
| PIGA | 1 | Mar 4, 2025 |
| PIK3CA | 30 | Mar 4, 2025 |
| PIK3CB | 1 | Mar 4, 2025 |
| PIK3CG | 3 | Mar 4, 2025 |
| PIK3R1 | 10 | Mar 4, 2025 |
| PIM1 | 2 | Mar 4, 2025 |
| PKLR | 6 | Mar 4, 2025 |
| PLA2G4A | 1 | Mar 4, 2025 |
| PLG | 1 | Mar 4, 2025 |
| PLXNA3 | 1 | Mar 4, 2025 |
| PMM2 | 2 | Mar 4, 2025 |
| PMP22 | 1 | Mar 4, 2025 |
| PMS2 | 219 | Mar 4, 2025 |
| POLD1 | 345 | Mar 4, 2025 |
| POLE | 582 | Mar 4, 2025 |
| POLG | 1 | Mar 4, 2025 |
| POLGARF | 1 | Mar 4, 2025 |
| POLR1C | 1 | Mar 4, 2025 |
| POLR3C | 1 | Mar 4, 2025 |
| POT1 | 107 | Mar 4, 2025 |
| PPARG | 2 | Mar 4, 2025 |
| PPP2R1A | 2 | Mar 4, 2025 |
| PRDM1 | 1 | Mar 4, 2025 |
| PREX2 | 2 | Mar 4, 2025 |
| PRKCD | 1 | Mar 4, 2025 |
| PRPF8 | 1 | Mar 4, 2025 |
| PRRT2 | 1 | Mar 4, 2025 |
| PRSS1 | 1 | Mar 4, 2025 |
| PTCH1 | 108 | Mar 4, 2025 |
| PTCH2 | 5 | Mar 4, 2025 |
| PTEN | 138 | Mar 4, 2025 |
| PTGS1 | 1 | Mar 4, 2025 |
| PTPN1 | 1 | Mar 4, 2025 |
| PTPN11 | 3 | Mar 4, 2025 |
| PTPN6 | 1 | Mar 4, 2025 |
| PTPRJ | 1 | Mar 4, 2025 |
| PTPRT | 4 | Mar 4, 2025 |
| RAB4B-EGLN2 | 2 | Mar 4, 2025 |
| RAD17 | 1 | Mar 4, 2025 |
| RAD50 | 5 | Mar 4, 2025 |
| RAD51B | 6 | Mar 4, 2025 |
| RAD51C | 83 | Mar 4, 2025 |
| RAD51D | 73 | Mar 4, 2025 |
| RAD51L3-RFFL | 73 | Mar 4, 2025 |
| RAD52 | 1 | Mar 4, 2025 |
| RAG1 | 1 | Mar 4, 2025 |
| RAG2 | 1 | Mar 4, 2025 |
| RANBP2 | 1 | Mar 4, 2025 |
| RB1 | 41 | Mar 4, 2025 |
| RBBP8 | 1 | Mar 4, 2025 |
| RBM10 | 2 | Mar 4, 2025 |
| RECQL | 3 | Mar 4, 2025 |
| RECQL4 | 2 | Mar 4, 2025 |
| RELA | 2 | Mar 4, 2025 |
| RELN | 1 | Mar 4, 2025 |
| RET | 61 | Mar 4, 2025 |
| REV3L | 3 | Mar 4, 2025 |
| RFX5 | 1 | Mar 4, 2025 |
| RHOA | 3 | Mar 4, 2025 |
| RHOH | 1 | Mar 4, 2025 |
| RICTOR | 1 | Mar 4, 2025 |
| RIPK1 | 1 | Mar 4, 2025 |
| RIT1 | 1 | Mar 4, 2025 |
| RNASEH2B | 1 | Mar 4, 2025 |
| RNF43 | 111 | Mar 4, 2025 |
| ROS1 | 2 | Mar 4, 2025 |
| RPE65 | 2 | Mar 4, 2025 |
| RPL11 | 1 | Mar 4, 2025 |
| RPL15 | 1 | Mar 4, 2025 |
| RPL35A | 1 | Mar 4, 2025 |
| RPL36A-HNRNPH2 | 1 | Mar 4, 2025 |
| RPL5 | 1 | Mar 4, 2025 |
| RPS20 | 48 | Mar 4, 2025 |
| RPS24 | 2 | Mar 4, 2025 |
| RPS6KA2 | 1 | Mar 4, 2025 |
| RTEL1 | 3 | Mar 4, 2025 |
| RTEL1-TNFRSF6B | 3 | Mar 4, 2025 |
| RUNX1 | 2 | Mar 4, 2025 |
| RUNX1-AS1 | 2 | Mar 4, 2025 |
| RYR1 | 1 | Mar 4, 2025 |
| RYR2 | 1 | Mar 4, 2025 |
| S1PR2 | 2 | Mar 4, 2025 |
| SAMHD1 | 1 | Mar 4, 2025 |
| SCNN1A | 1 | Mar 4, 2025 |
| SCNN1B | 1 | Mar 4, 2025 |
| SDHA | 20 | Mar 4, 2025 |
| SDHAF2 | 2 | Mar 4, 2025 |
| SDHB | 69 | Mar 4, 2025 |
| SDHC | 56 | Mar 4, 2025 |
| SDHD | 15 | Mar 4, 2025 |
| SEC23B | 5 | Mar 4, 2025 |
| SEPT5-GP1BB | 2 | Mar 4, 2025 |
| SERPINA1 | 2 | Mar 4, 2025 |
| SERPINA7 | 1 | Mar 4, 2025 |
| SETD1B | 3 | Mar 4, 2025 |
| SETD2 | 11 | Mar 4, 2025 |
| SETD5 | 1 | Mar 4, 2025 |
| SF3B1 | 3 | Mar 4, 2025 |
| SGCG | 1 | Mar 4, 2025 |
| SLC12A1 | 1 | Mar 4, 2025 |
| SLC12A3 | 2 | Mar 4, 2025 |
| SLC19A2 | 1 | Mar 4, 2025 |
| SLC26A4 | 2 | Mar 4, 2025 |
| SLC2A1 | 1 | Mar 4, 2025 |
| SLC34A1 | 1 | Mar 4, 2025 |
| SLC40A1 | 2 | Mar 4, 2025 |
| SLC4A1 | 12 | Mar 4, 2025 |
| SLCO2A1 | 1 | Mar 4, 2025 |
| SMAD2 | 1 | Mar 4, 2025 |
| SMAD3 | 3 | Mar 4, 2025 |
| SMAD4 | 81 | Mar 4, 2025 |
| SMARCA1 | 3 | Mar 4, 2025 |
| SMARCA4 | 8 | Mar 4, 2025 |
| SMARCB1 | 2 | Mar 4, 2025 |
| SOCS1 | 5 | Mar 4, 2025 |
| SOX5 | 1 | Mar 4, 2025 |
| SOX9 | 2 | Mar 4, 2025 |
| SPEN | 1 | Mar 4, 2025 |
| SPINK1 | 1 | Mar 4, 2025 |
| SPOP | 5 | Mar 4, 2025 |
| SPTA1 | 15 | Mar 4, 2025 |
| SPTB | 14 | Mar 4, 2025 |
| SPTBN1 | 2 | Mar 4, 2025 |
| SRP72 | 1 | Mar 4, 2025 |
| SRSF2 | 1 | Mar 4, 2025 |
| STAG2 | 3 | Mar 4, 2025 |
| STAT1 | 1 | Mar 4, 2025 |
| STAT3 | 6 | Mar 4, 2025 |
| STAT5B | 1 | Mar 4, 2025 |
| STAT6 | 3 | Mar 4, 2025 |
| STEAP3 | 1 | Mar 4, 2025 |
| STEAP3-AS1 | 1 | Mar 4, 2025 |
| STIM1 | 1 | Mar 4, 2025 |
| STK11 | 135 | Mar 4, 2025 |
| STX11 | 1 | Mar 4, 2025 |
| STXBP2 | 3 | Mar 4, 2025 |
| SUFU | 30 | Mar 4, 2025 |
| TBL1XR1 | 3 | Mar 4, 2025 |
| TBL1XR1-AS1 | 1 | Mar 4, 2025 |
| TBX3 | 1 | Mar 4, 2025 |
| TCF20 | 1 | Mar 4, 2025 |
| TCF3 | 1 | Mar 4, 2025 |
| TCF7L2 | 1 | Mar 4, 2025 |
| TCIRG1 | 1 | Mar 4, 2025 |
| TENM4 | 1 | Mar 4, 2025 |
| TERF2IP | 45 | Mar 4, 2025 |
| TERT | 21 | Mar 4, 2025 |
| TET2 | 7 | Mar 4, 2025 |
| TET2-AS1 | 7 | Mar 4, 2025 |
| TFR2 | 4 | Mar 4, 2025 |
| TG | 1 | Mar 4, 2025 |
| TGFBR2 | 7 | Mar 4, 2025 |
| TH2-LCR | 1 | Mar 4, 2025 |
| TH2LCRR | 1 | Mar 4, 2025 |
| THBD | 3 | Mar 4, 2025 |
| THBS2 | 1 | Mar 4, 2025 |
| THBS2-AS1 | 1 | Mar 4, 2025 |
| THRB | 1 | Mar 4, 2025 |
| TINF2 | 18 | Mar 4, 2025 |
| TLK2 | 1 | Mar 4, 2025 |
| TMEM127 | 4 | Mar 4, 2025 |
| TMEM240 | 1 | Mar 4, 2025 |
| TMPRSS6 | 1 | Mar 4, 2025 |
| TMSB4X | 1 | Mar 4, 2025 |
| TNFAIP3 | 7 | Mar 4, 2025 |
| TNFRSF13B | 4 | Mar 4, 2025 |
| TNFRSF14 | 4 | Mar 4, 2025 |
| TNFRSF14-AS1 | 2 | Mar 4, 2025 |
| TNFRSF1A | 2 | Mar 4, 2025 |
| TNXB | 2 | Mar 4, 2025 |
| TOE1 | 3 | Mar 4, 2025 |
| TP53 | 270 | Mar 4, 2025 |
| TPO | 1 | Mar 4, 2025 |
| TRAF2 | 1 | Mar 4, 2025 |
| TRAF3 | 1 | Mar 4, 2025 |
| TRB | 1 | Mar 4, 2025 |
| TREX1 | 1 | Mar 4, 2025 |
| TRNT1 | 1 | Mar 4, 2025 |
| TSC1 | 1 | Mar 4, 2025 |
| TSC2 | 10 | Mar 4, 2025 |
| TSPAN31 | 15 | Mar 4, 2025 |
| TTN | 3 | Mar 4, 2025 |
| TTN-AS1 | 1 | Mar 4, 2025 |
| TUBA8 | 1 | Mar 4, 2025 |
| TUBB1 | 3 | Mar 4, 2025 |
| TUBGCP6 | 3 | Mar 4, 2025 |
| UGT1A | 6 | Mar 4, 2025 |
| UGT1A1 | 6 | Mar 4, 2025 |
| UGT1A10 | 6 | Mar 4, 2025 |
| UGT1A3 | 6 | Mar 4, 2025 |
| UGT1A4 | 6 | Mar 4, 2025 |
| UGT1A5 | 6 | Mar 4, 2025 |
| UGT1A6 | 6 | Mar 4, 2025 |
| UGT1A7 | 6 | Mar 4, 2025 |
| UGT1A8 | 6 | Mar 4, 2025 |
| UGT1A9 | 6 | Mar 4, 2025 |
| UNC119 | 1 | Mar 4, 2025 |
| UNC13D | 4 | Mar 4, 2025 |
| USP39 | 1 | Mar 4, 2025 |
| USP7 | 1 | Mar 4, 2025 |
| VAV1 | 1 | Mar 4, 2025 |
| VDR | 1 | Mar 4, 2025 |
| VHL | 58 | Mar 4, 2025 |
| VPS33B | 1 | Mar 4, 2025 |
| VRK2 | 1 | Mar 4, 2025 |
| VTN | 1 | Mar 4, 2025 |
| VWF | 23 | Mar 4, 2025 |
| WAS | 3 | Mar 4, 2025 |
| WDFY3 | 1 | Mar 4, 2025 |
| WFS1 | 1 | Mar 4, 2025 |
| WNK1 | 1 | Mar 4, 2025 |
| WNT1 | 1 | Mar 4, 2025 |
| WRN | 2 | Mar 4, 2025 |
| WT1 | 4 | Mar 4, 2025 |
| XBP1 | 1 | Mar 4, 2025 |
| ZBTB20 | 1 | Mar 4, 2025 |
| ZEB2 | 1 | Mar 4, 2025 |
| ZFHX3 | 1 | Mar 4, 2025 |
| ZFHX3-AS1 | 1 | Mar 4, 2025 |
| ZNF687 | 1 | Mar 4, 2025 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 1 | Feb 4, 2016 |
| Neoplasm | 1119 | Mar 5, 2025 |
| not provided | 927 | Mar 4, 2025 |
| not specified | 8129 | Mar 4, 2025 |