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: 6492
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCB11 | 1 | Aug 16, 2023 |
| ABCB4 | 2 | Feb 6, 2024 |
| ABCC4 | 1 | Aug 16, 2023 |
| ACD | 60 | Feb 6, 2024 |
| ACTN1 | 1 | Feb 6, 2024 |
| ACVRL1 | 1 | Aug 16, 2023 |
| ADAMTS13 | 3 | Aug 16, 2023 |
| AICDA | 1 | Feb 6, 2024 |
| AIMP2 | 1 | Feb 6, 2024 |
| AIP | 1 | Feb 6, 2024 |
| ALAS2 | 1 | Feb 6, 2024 |
| ALPL | 2 | Feb 6, 2024 |
| AMBN | 2 | Aug 16, 2023 |
| ANK1 | 5 | Feb 6, 2024 |
| ANKRD11 | 1 | Aug 16, 2023 |
| AP2S1 | 12 | Feb 6, 2024 |
| APC | 291 | Feb 6, 2024 |
| AREL1 | 1 | Aug 16, 2023 |
| ARPC1B | 1 | Aug 16, 2023 |
| ATM | 397 | Feb 6, 2024 |
| ATP8B1 | 3 | Feb 6, 2024 |
| ATP8B1-AS1 | 1 | Aug 16, 2023 |
| ATR | 1 | Aug 16, 2023 |
| ATRIP | 1 | Feb 6, 2024 |
| ATRIP-TREX1 | 1 | Feb 6, 2024 |
| AXIN2 | 138 | Feb 6, 2024 |
| BAP1 | 102 | Feb 6, 2024 |
| BARD1 | 93 | Feb 6, 2024 |
| BLM | 2 | Feb 6, 2024 |
| BLVRA | 1 | Aug 16, 2023 |
| BMPR1A | 66 | Feb 6, 2024 |
| BPTF | 1 | Feb 6, 2024 |
| BRCA1 | 303 | Feb 6, 2024 |
| BRCA2 | 477 | Feb 6, 2024 |
| BRIP1 | 137 | Feb 6, 2024 |
| BTK | 1 | Feb 6, 2024 |
| C11orf65 | 134 | Feb 6, 2024 |
| C1R | 1 | Aug 16, 2023 |
| C1S | 1 | Feb 6, 2024 |
| C2 | 1 | Feb 6, 2024 |
| C3 | 5 | Feb 6, 2024 |
| C3AR1 | 1 | Feb 4, 2016 |
| C6 | 1 | Aug 16, 2023 |
| C7 | 2 | Feb 6, 2024 |
| CA5A | 1 | Aug 16, 2023 |
| CACNA1H | 3 | Aug 16, 2023 |
| CASR | 45 | Feb 6, 2024 |
| CCDC141 | 2 | Aug 16, 2023 |
| CCDST | 2 | Feb 6, 2024 |
| CD46 | 3 | Aug 16, 2023 |
| CDC73 | 16 | Feb 6, 2024 |
| CDH1 | 146 | Feb 6, 2024 |
| CDK4 | 29 | Feb 6, 2024 |
| CDKN1B | 10 | Feb 6, 2024 |
| CDKN2A | 45 | Feb 6, 2024 |
| CDKN2B | 12 | Feb 6, 2024 |
| CDKN2B-AS1 | 12 | Feb 6, 2024 |
| CFAP126 | 1 | Aug 16, 2023 |
| CFH | 2 | Aug 16, 2023 |
| CFHR5 | 1 | Aug 16, 2023 |
| CFI | 3 | Aug 16, 2023 |
| CFTR | 2 | Feb 6, 2024 |
| CFTR-AS1 | 1 | Feb 6, 2024 |
| CHD8 | 1 | Feb 6, 2024 |
| CHEK1 | 1 | Aug 16, 2023 |
| CHEK2 | 104 | Feb 6, 2024 |
| CHURC1-FNTB | 2 | Aug 16, 2023 |
| CIITA | 1 | Feb 6, 2024 |
| CLCN7 | 1 | Feb 6, 2024 |
| CLCNKB | 3 | Aug 16, 2023 |
| COL1A1 | 1 | Feb 6, 2024 |
| COL5A1 | 1 | Feb 6, 2024 |
| COL7A1 | 2 | Aug 16, 2023 |
| COMP | 1 | Feb 6, 2024 |
| CREBBP | 1 | Aug 16, 2023 |
| CTNND2 | 1 | Feb 6, 2024 |
| CUL4B | 1 | Feb 6, 2024 |
| CYB5R3 | 1 | Aug 16, 2023 |
| CYBB | 1 | Feb 6, 2024 |
| CYP27B1 | 1 | Aug 16, 2023 |
| DCPS | 1 | Aug 16, 2023 |
| DHCR7 | 1 | Feb 6, 2024 |
| DHFR | 53 | Feb 6, 2024 |
| DICER1 | 200 | Feb 6, 2024 |
| DIPK1A | 1 | Feb 6, 2024 |
| DOCK2 | 1 | Aug 16, 2023 |
| DOK7 | 1 | Feb 6, 2024 |
| DYSF | 1 | Feb 6, 2024 |
| EGLN1 | 3 | Feb 6, 2024 |
| ELANE | 1 | Feb 6, 2024 |
| ELP1 | 1 | Aug 16, 2023 |
| EP300 | 2 | Feb 6, 2024 |
| EPAS1 | 2 | Aug 16, 2023 |
| EPB41 | 1 | Aug 16, 2023 |
| EPCAM | 23 | Feb 6, 2024 |
| EPHB2 | 1 | Feb 6, 2024 |
| EPO | 1 | Feb 6, 2024 |
| EPOR | 1 | Aug 16, 2023 |
| ERCC2 | 1 | Aug 16, 2023 |
| ETV6 | 1 | Feb 6, 2024 |
| F10 | 1 | Aug 16, 2023 |
| F11 | 2 | Feb 6, 2024 |
| F13A1 | 1 | Aug 16, 2023 |
| F13B | 2 | Aug 16, 2023 |
| F3 | 1 | Feb 6, 2024 |
| F5 | 2 | Feb 6, 2024 |
| F8 | 3 | Feb 6, 2024 |
| F9 | 1 | Aug 16, 2023 |
| FAH | 2 | Aug 16, 2023 |
| FANCA | 4 | Feb 6, 2024 |
| FANCD2 | 2 | Aug 16, 2023 |
| FANCD2OS | 1 | Aug 16, 2023 |
| FBXW11 | 1 | Aug 16, 2023 |
| FGB | 1 | Aug 16, 2023 |
| FGG | 1 | Feb 6, 2024 |
| FH | 83 | Feb 6, 2024 |
| FLCN | 112 | Feb 6, 2024 |
| FLG | 2 | Feb 6, 2024 |
| FNTB | 2 | Aug 16, 2023 |
| FTL | 1 | Aug 16, 2023 |
| G6PD | 2 | Feb 6, 2024 |
| GABRA1 | 1 | Aug 15, 2023 |
| GABRG2 | 1 | Feb 6, 2024 |
| GATA1 | 1 | Feb 6, 2024 |
| GATA2 | 1 | Feb 6, 2024 |
| GFI1B | 1 | Aug 16, 2023 |
| GIGYF1 | 1 | Aug 16, 2023 |
| GJB2 | 1 | Aug 16, 2023 |
| GNA11 | 24 | Feb 6, 2024 |
| GNAI3 | 1 | Feb 6, 2024 |
| GNAS | 1 | Feb 6, 2024 |
| GP1BA | 1 | Aug 16, 2023 |
| GREM1 | 23 | Feb 6, 2024 |
| GREM1-AS1 | 3 | Aug 16, 2023 |
| GRIN2A | 1 | Aug 16, 2023 |
| GSEC | 1 | Aug 16, 2023 |
| GSN | 1 | Feb 6, 2024 |
| HAMP | 3 | Aug 16, 2023 |
| HAX1 | 1 | Feb 6, 2024 |
| HBA1 | 1 | Aug 16, 2023 |
| HBA2 | 1 | Aug 16, 2023 |
| HBB | 3 | Feb 6, 2024 |
| HBG1 | 1 | Aug 16, 2023 |
| HFE | 4 | Feb 6, 2024 |
| HFE-AS1 | 2 | Feb 6, 2024 |
| HJV | 2 | Feb 6, 2024 |
| HNF4A | 1 | Aug 16, 2023 |
| HOXB13 | 1 | Aug 16, 2023 |
| HSALR1 | 7 | Feb 6, 2024 |
| HSD11B2 | 1 | Aug 15, 2023 |
| IRF7 | 1 | Aug 16, 2023 |
| ITGB3 | 2 | Feb 6, 2024 |
| JAG1 | 1 | Feb 6, 2024 |
| KARS1 | 1 | Aug 16, 2023 |
| KCNN4 | 1 | Feb 6, 2024 |
| KCNT1 | 1 | Feb 6, 2024 |
| KLF1 | 1 | Feb 6, 2024 |
| KLHL3 | 1 | Aug 16, 2023 |
| KLLN | 2 | Aug 16, 2023 |
| KMT2D | 1 | Aug 16, 2023 |
| LDLR | 1 | Feb 6, 2024 |
| LOC100507346 | 1 | Aug 16, 2023 |
| LOC106099062 | 3 | Feb 6, 2024 |
| LOC106099064 | 1 | Aug 16, 2023 |
| LOC106501713 | 3 | Aug 16, 2023 |
| LOC106736614 | 1 | Aug 16, 2023 |
| LOC106804612 | 1 | Aug 16, 2023 |
| LOC106804613 | 1 | Aug 16, 2023 |
| LOC107133510 | 3 | Feb 6, 2024 |
| LOC107303338 | 1 | Aug 16, 2023 |
| LOC107303340 | 21 | Feb 6, 2024 |
| LOC107982234 | 1 | Aug 16, 2023 |
| LOC107988042 | 1 | Aug 16, 2023 |
| LOC110806263 | 10 | Feb 6, 2024 |
| LOC111811965 | 1 | Aug 16, 2023 |
| LOC117125591 | 1 | Feb 6, 2024 |
| LOC126807437 | 1 | Aug 16, 2023 |
| LOC126860757 | 1 | Feb 6, 2024 |
| LOC126861339 | 1 | Aug 16, 2023 |
| LOC126862571 | 49 | Feb 6, 2024 |
| LOC126862987 | 1 | Aug 16, 2023 |
| LOC129390903 | 1 | Aug 16, 2023 |
| LOC129929541 | 3 | Aug 16, 2023 |
| LOC129929542 | 1 | Aug 16, 2023 |
| LOC129934333 | 1 | Aug 16, 2023 |
| LOC129994371 | 5 | Aug 16, 2023 |
| LOC129994918 | 1 | Aug 15, 2023 |
| LOC130001603 | 7 | Feb 6, 2024 |
| LOC130001606 | 4 | Aug 16, 2023 |
| LOC130001608 | 3 | Aug 16, 2023 |
| LOC130002133 | 1 | Aug 16, 2023 |
| LOC130004273 | 2 | Feb 6, 2024 |
| LOC130004274 | 1 | Aug 16, 2023 |
| LOC130004599 | 1 | Feb 6, 2024 |
| LOC130008148 | 2 | Aug 16, 2023 |
| LOC130009266 | 14 | Feb 6, 2024 |
| LOC130055850 | 1 | Aug 16, 2023 |
| LOC130059290 | 2 | Aug 16, 2023 |
| LOC130061310 | 1 | Aug 16, 2023 |
| LOC130061360 | 1 | Aug 16, 2023 |
| LOC130062899 | 9 | Feb 6, 2024 |
| LPAR6 | 1 | Aug 16, 2023 |
| LRBA | 1 | Feb 6, 2024 |
| LZTR1 | 1 | Feb 6, 2024 |
| MAP3K6 | 1 | Aug 16, 2023 |
| MASTL | 1 | Aug 16, 2023 |
| MAX | 5 | Feb 6, 2024 |
| MDH2 | 2 | Feb 6, 2024 |
| MED13L | 1 | Aug 16, 2023 |
| MEF2C | 1 | Feb 6, 2024 |
| MEFV | 1 | Feb 6, 2024 |
| MEN1 | 24 | Feb 6, 2024 |
| MET | 144 | Feb 6, 2024 |
| MIR4733HG | 1 | Aug 16, 2023 |
| MITF | 17 | Aug 16, 2023 |
| MLH1 | 179 | Feb 6, 2024 |
| MLH3 | 162 | Feb 6, 2024 |
| MPZ | 1 | Aug 16, 2023 |
| MSH2 | 179 | Feb 6, 2024 |
| MSH3 | 196 | Feb 6, 2024 |
| MSH6 | 222 | Feb 6, 2024 |
| MUTYH | 106 | Feb 6, 2024 |
| MVP-DT | 1 | Aug 16, 2023 |
| MYH9 | 2 | Feb 6, 2024 |
| MYO7A | 1 | Feb 6, 2024 |
| NAA10 | 1 | Feb 6, 2024 |
| NBEA | 1 | Feb 6, 2024 |
| NBEAL2 | 1 | Aug 16, 2023 |
| NBN | 1 | Aug 16, 2023 |
| NEK10 | 1 | Aug 16, 2023 |
| NF1 | 28 | Feb 6, 2024 |
| NF2 | 3 | Aug 16, 2023 |
| NFKB1 | 2 | Aug 16, 2023 |
| NFKB2 | 1 | Feb 6, 2024 |
| NIPBL | 1 | Aug 16, 2023 |
| NLRC3 | 1 | Aug 16, 2023 |
| NLRC4 | 1 | Aug 16, 2023 |
| NLRP3 | 1 | Feb 6, 2024 |
| NR3C1 | 1 | Aug 15, 2023 |
| NTHL1 | 64 | Feb 6, 2024 |
| OMG | 1 | Feb 6, 2024 |
| PALB2 | 162 | Feb 6, 2024 |
| PDE4D | 1 | Feb 6, 2024 |
| PGM3 | 1 | Feb 6, 2024 |
| PIEZO1 | 20 | Feb 6, 2024 |
| PKLR | 5 | Feb 6, 2024 |
| PLA2G4A | 1 | Aug 16, 2023 |
| PMM2 | 1 | Feb 6, 2024 |
| PMP22 | 1 | Feb 6, 2024 |
| PMS2 | 166 | Feb 6, 2024 |
| POLD1 | 277 | Feb 6, 2024 |
| POLE | 432 | Feb 6, 2024 |
| POLR3C | 1 | Aug 16, 2023 |
| POT1 | 74 | Feb 6, 2024 |
| PRPF8 | 1 | Aug 16, 2023 |
| PRRT2 | 1 | Aug 16, 2023 |
| PTCH1 | 6 | Feb 6, 2024 |
| PTCH2 | 4 | Feb 6, 2024 |
| PTEN | 65 | Feb 6, 2024 |
| PTGS1 | 1 | Feb 6, 2024 |
| RAD50 | 1 | Feb 6, 2024 |
| RAD51B | 1 | Feb 6, 2024 |
| RAD51C | 57 | Feb 6, 2024 |
| RAD51D | 47 | Feb 6, 2024 |
| RAD51L3-RFFL | 47 | Feb 6, 2024 |
| RB1 | 13 | Feb 6, 2024 |
| RECQL | 1 | Feb 6, 2024 |
| RECQL4 | 1 | Aug 16, 2023 |
| RELA | 1 | Feb 6, 2024 |
| RET | 45 | Feb 6, 2024 |
| RNASEH2B | 1 | Feb 6, 2024 |
| RNF43 | 80 | Feb 6, 2024 |
| RPL5 | 1 | Feb 6, 2024 |
| RPS20 | 31 | Feb 6, 2024 |
| RPS6KA2 | 1 | Feb 6, 2024 |
| RTEL1 | 2 | Feb 6, 2024 |
| RTEL1-TNFRSF6B | 2 | Feb 6, 2024 |
| RYR1 | 1 | Aug 16, 2023 |
| RYR2 | 1 | Feb 6, 2024 |
| SDHA | 14 | Feb 6, 2024 |
| SDHB | 54 | Feb 6, 2024 |
| SDHC | 46 | Feb 6, 2024 |
| SDHD | 9 | Aug 16, 2023 |
| SEC23B | 3 | Aug 16, 2023 |
| SERPINA7 | 1 | Feb 6, 2024 |
| SETD1B | 1 | Aug 16, 2023 |
| SF3B1 | 1 | Aug 16, 2023 |
| SLC12A1 | 1 | Aug 16, 2023 |
| SLC12A3 | 2 | Aug 16, 2023 |
| SLC26A4 | 2 | Aug 16, 2023 |
| SLC2A1 | 1 | Aug 16, 2023 |
| SLC34A1 | 1 | Aug 16, 2023 |
| SLC40A1 | 1 | Aug 16, 2023 |
| SLC4A1 | 7 | Feb 6, 2024 |
| SMAD4 | 50 | Feb 6, 2024 |
| SPINK1 | 1 | Aug 16, 2023 |
| SPTA1 | 8 | Feb 6, 2024 |
| SPTB | 4 | Feb 6, 2024 |
| STAT3 | 2 | Feb 6, 2024 |
| STK11 | 96 | Feb 6, 2024 |
| STXBP2 | 1 | Aug 16, 2023 |
| SUFU | 1 | Aug 16, 2023 |
| TCF20 | 1 | Aug 16, 2023 |
| TCF3 | 1 | Feb 6, 2024 |
| TERF2IP | 34 | Feb 6, 2024 |
| TERT | 11 | Feb 6, 2024 |
| TFR2 | 3 | Aug 16, 2023 |
| TG | 1 | Aug 16, 2023 |
| THBD | 1 | Aug 16, 2023 |
| THRB | 1 | Feb 6, 2024 |
| TINF2 | 1 | Aug 16, 2023 |
| TLK2 | 1 | Aug 16, 2023 |
| TMEM127 | 4 | Feb 6, 2024 |
| TMEM240 | 1 | Feb 6, 2024 |
| TNFRSF13B | 3 | Feb 6, 2024 |
| TNFRSF1A | 1 | Feb 6, 2024 |
| TOE1 | 2 | Aug 16, 2023 |
| TP53 | 73 | Feb 6, 2024 |
| TREX1 | 1 | Feb 6, 2024 |
| TSC2 | 6 | Feb 6, 2024 |
| TSPAN31 | 10 | Feb 6, 2024 |
| TUBB1 | 2 | Feb 6, 2024 |
| TUBGCP6 | 3 | Feb 6, 2024 |
| UGT1A | 2 | Feb 6, 2024 |
| UGT1A1 | 2 | Feb 6, 2024 |
| UGT1A10 | 2 | Feb 6, 2024 |
| UGT1A3 | 2 | Feb 6, 2024 |
| UGT1A4 | 2 | Feb 6, 2024 |
| UGT1A5 | 2 | Feb 6, 2024 |
| UGT1A6 | 2 | Feb 6, 2024 |
| UGT1A7 | 2 | Feb 6, 2024 |
| UGT1A8 | 2 | Feb 6, 2024 |
| UGT1A9 | 2 | Feb 6, 2024 |
| UNC13D | 2 | Aug 16, 2023 |
| VHL | 38 | Feb 6, 2024 |
| VTN | 1 | Aug 16, 2023 |
| VWF | 13 | Feb 6, 2024 |
| WAS | 1 | Aug 16, 2023 |
| WDFY3 | 1 | Feb 6, 2024 |
| WFS1 | 1 | Feb 6, 2024 |
| WNK1 | 1 | Aug 16, 2023 |
| WNT1 | 1 | Feb 6, 2024 |
| WRN | 2 | Aug 16, 2023 |
| WT1 | 2 | Aug 16, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 1 | Feb 4, 2016 |
| not provided | 594 | Feb 6, 2024 |
| not specified | 5897 | Feb 6, 2024 |