Soonchunhyang University Bucheon Hospital (Soonchunhyang University Hospital)
General information
Soonchunhyang University Bucheon Hospital
Soonchunhyang University Hospital
http://www.schmc.ac.kr/bucheon/kor/index.do
Organization ID: 505765
Soonchunhyang University Hospital
http://www.schmc.ac.kr/bucheon/kor/index.do
Organization ID: 505765
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 366
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA1 | 1 | Apr 14, 2016 |
| ABCA4 | 1 | Apr 14, 2016 |
| ABCC8 | 1 | Apr 14, 2016 |
| ADAMTS13 | 1 | Apr 14, 2016 |
| ADAMTSL2 | 1 | Apr 14, 2016 |
| ADGRV1 | 1 | Apr 14, 2016 |
| ALB | 1 | Apr 14, 2016 |
| ALMS1 | 1 | Apr 14, 2016 |
| ALS2 | 1 | Apr 14, 2016 |
| AMACR | 1 | Apr 14, 2016 |
| AMPD1 | 1 | Apr 14, 2016 |
| ANOS1 | 1 | Apr 14, 2016 |
| ARFGEF2 | 1 | Apr 14, 2016 |
| ASPM | 1 | Apr 14, 2016 |
| ASS1 | 1 | Apr 14, 2016 |
| ATP6V1B1 | 1 | Apr 14, 2016 |
| ATP7B | 4 | Apr 14, 2016 |
| ATRIP | 2 | Apr 14, 2016 |
| ATRIP-TREX1 | 2 | Apr 14, 2016 |
| BAG3 | 1 | Apr 14, 2016 |
| BBS1 | 1 | Apr 14, 2016 |
| BBS4 | 1 | Apr 14, 2016 |
| BCHE | 2 | Apr 14, 2016 |
| BCKDHB | 1 | Apr 14, 2016 |
| BEST1 | 1 | Apr 14, 2016 |
| BMP4 | 1 | Apr 14, 2016 |
| BMPR2 | 1 | Apr 14, 2016 |
| BRCA1 | 2 | Apr 14, 2016 |
| BRCA2 | 4 | Apr 14, 2016 |
| BSND | 1 | Apr 14, 2016 |
| BTD | 1 | Apr 14, 2016 |
| C1QTNF3-AMACR | 1 | Apr 14, 2016 |
| C2 | 1 | Apr 14, 2016 |
| C7 | 1 | Apr 14, 2016 |
| CAPN3 | 2 | Apr 14, 2016 |
| CBS | 1 | Apr 14, 2016 |
| CCDST | 5 | Apr 14, 2016 |
| CD320 | 1 | Apr 14, 2016 |
| CD36 | 2 | Apr 14, 2016 |
| CD96 | 1 | Apr 14, 2016 |
| CDH1 | 1 | Apr 14, 2016 |
| CEP152 | 1 | Apr 14, 2016 |
| CEP290 | 1 | Apr 14, 2016 |
| CEP63 | 1 | Apr 14, 2016 |
| CFB | 2 | Apr 14, 2016 |
| CFTR | 3 | Apr 14, 2016 |
| CHEK2 | 1 | Apr 14, 2016 |
| CHROMR | 1 | Apr 14, 2016 |
| CLCN2 | 1 | Apr 14, 2016 |
| CNGA1 | 3 | Apr 14, 2016 |
| CNGB1 | 1 | Apr 14, 2016 |
| COG5 | 1 | Apr 14, 2016 |
| COL11A2 | 1 | Apr 14, 2016 |
| COL17A1 | 1 | Apr 14, 2016 |
| COL1A1 | 1 | Apr 14, 2016 |
| COL4A3 | 1 | Apr 14, 2016 |
| COL4A4 | 1 | Apr 14, 2016 |
| COL4A5 | 1 | Apr 14, 2016 |
| COL7A1 | 3 | Apr 14, 2016 |
| COQ8A | 1 | Apr 14, 2016 |
| CORIN | 1 | Apr 14, 2016 |
| CORIN-AS1 | 1 | Apr 14, 2016 |
| CPAP | 1 | Apr 14, 2016 |
| CRB1 | 1 | Apr 14, 2016 |
| CRYBA1 | 1 | Apr 14, 2016 |
| CSF1R | 1 | Apr 14, 2016 |
| CTH | 1 | Apr 14, 2016 |
| CTNNA3 | 1 | Apr 14, 2016 |
| CUBN | 1 | Apr 14, 2016 |
| CYP1B1 | 3 | Apr 14, 2016 |
| CYP21A2 | 2 | Apr 14, 2016 |
| CYP27A1 | 2 | Apr 14, 2016 |
| CYP4V2 | 1 | Apr 14, 2016 |
| CYP7B1 | 1 | Apr 14, 2016 |
| DBNL | 1 | Apr 14, 2016 |
| DHCR7 | 1 | Apr 14, 2016 |
| DIAPH3 | 1 | Apr 14, 2016 |
| DMD | 2 | Apr 14, 2016 |
| DMGDH | 1 | Apr 14, 2016 |
| DNAH5 | 1 | Apr 14, 2016 |
| DSP | 1 | Apr 14, 2016 |
| DUOX2 | 2 | Apr 14, 2016 |
| DUOXA2 | 1 | Apr 14, 2016 |
| DYNC2H1 | 1 | Apr 14, 2016 |
| EDN3 | 1 | Apr 14, 2016 |
| EDNRB | 1 | Apr 14, 2016 |
| ELAC2 | 1 | Apr 14, 2016 |
| EPB42 | 1 | Apr 14, 2016 |
| ERCC1 | 1 | Apr 14, 2016 |
| ESRRB | 1 | Apr 14, 2016 |
| EYA1 | 2 | Apr 14, 2016 |
| F12 | 1 | Apr 14, 2016 |
| F8 | 2 | Apr 14, 2016 |
| F9 | 1 | Apr 14, 2016 |
| FANCI | 1 | Apr 14, 2016 |
| FBN1 | 2 | Apr 14, 2016 |
| FBN2 | 1 | Apr 14, 2016 |
| FBXO7 | 1 | Apr 14, 2016 |
| FKTN | 1 | Apr 14, 2016 |
| FLG | 5 | Apr 14, 2016 |
| FLNA | 1 | Apr 14, 2016 |
| FMO3 | 2 | Apr 14, 2016 |
| FTH1 | 1 | Apr 14, 2016 |
| FUT2 | 1 | Apr 14, 2016 |
| FUT6 | 2 | Apr 14, 2016 |
| G6PC1 | 1 | Apr 14, 2016 |
| GALC | 2 | Apr 14, 2016 |
| GALE | 1 | Apr 14, 2016 |
| GALK1 | 1 | Apr 14, 2016 |
| GAMT | 1 | Apr 14, 2016 |
| GATA4 | 1 | Apr 14, 2016 |
| GCKR | 2 | Apr 14, 2016 |
| GCNT2 | 1 | Apr 14, 2016 |
| GFAP | 2 | Apr 14, 2016 |
| GHR | 1 | Apr 14, 2016 |
| GJB2 | 2 | Apr 14, 2016 |
| GJB4 | 1 | Apr 14, 2016 |
| GJB6 | 1 | Apr 14, 2016 |
| GLDC | 1 | Apr 14, 2016 |
| GLRA1 | 1 | Apr 14, 2016 |
| GLUD1 | 1 | Apr 14, 2016 |
| GNE | 1 | Apr 14, 2016 |
| GORAB | 1 | Apr 14, 2016 |
| GRM6 | 1 | Apr 14, 2016 |
| GSDME | 1 | Apr 14, 2016 |
| GSS | 1 | Apr 14, 2016 |
| GUCA1B | 1 | Apr 14, 2016 |
| GUSB | 1 | Apr 14, 2016 |
| HADHB | 2 | Apr 14, 2016 |
| HARS2 | 1 | Apr 14, 2016 |
| HNF4A | 1 | Apr 14, 2016 |
| HP | 1 | Apr 14, 2016 |
| HSD17B4 | 1 | Apr 14, 2016 |
| HUWE1 | 1 | Apr 14, 2016 |
| IFT140 | 1 | Apr 14, 2016 |
| IL17F | 1 | Apr 14, 2016 |
| IL36RN | 1 | Apr 14, 2016 |
| IRS1 | 1 | Apr 14, 2016 |
| ITGA2B | 1 | Apr 14, 2016 |
| ITGA6 | 1 | Apr 14, 2016 |
| ITGA6-AS1 | 1 | Apr 14, 2016 |
| ITGB3 | 1 | Apr 14, 2016 |
| ITGB4 | 1 | Apr 14, 2016 |
| JAG1 | 1 | Apr 14, 2016 |
| KCNE2 | 1 | Apr 14, 2016 |
| KCNE3 | 1 | Apr 14, 2016 |
| KCNJ1 | 1 | Apr 14, 2016 |
| KCNJ10 | 1 | Apr 14, 2016 |
| KCNJ5 | 1 | Apr 14, 2016 |
| KCNK18 | 1 | Apr 14, 2016 |
| KCNQ2 | 1 | Apr 14, 2016 |
| KCNV2 | 1 | Apr 14, 2016 |
| KIF1B | 1 | Apr 14, 2016 |
| KIRREL2 | 1 | Apr 14, 2016 |
| KLKB1 | 1 | Apr 14, 2016 |
| KNG1 | 1 | Apr 14, 2016 |
| KRT83 | 1 | Apr 14, 2016 |
| KRT9 | 1 | Apr 14, 2016 |
| LALTOP | 1 | Apr 14, 2016 |
| LDLR | 1 | Apr 14, 2016 |
| LIPH | 1 | Apr 14, 2016 |
| LIPT2 | 1 | Apr 14, 2016 |
| LMBRD1 | 1 | Apr 14, 2016 |
| LOC101927157 | 3 | Apr 14, 2016 |
| LOC105371046 | 1 | Apr 14, 2016 |
| LOC105372791 | 1 | Apr 14, 2016 |
| LOC105447645 | 1 | Apr 14, 2016 |
| LOC106780800 | 2 | Apr 14, 2016 |
| LOC123956210 | 1 | Apr 14, 2016 |
| LOC126805916 | 1 | Apr 14, 2016 |
| LOC126806104 | 1 | Apr 14, 2016 |
| LOC126859861 | 1 | Apr 14, 2016 |
| LOC126862571 | 1 | Apr 14, 2016 |
| LOC128772254 | 1 | Apr 14, 2016 |
| LOC129930446 | 1 | Apr 14, 2016 |
| LRP2 | 1 | Apr 14, 2016 |
| LRP5 | 2 | Apr 14, 2016 |
| LRPPRC | 1 | Apr 14, 2016 |
| MAPT | 1 | Apr 14, 2016 |
| MASP1 | 1 | Apr 14, 2016 |
| MC1R | 1 | Apr 14, 2016 |
| MFF-DT | 1 | Apr 14, 2016 |
| MLC1 | 1 | Apr 14, 2016 |
| MLH1 | 2 | Apr 14, 2016 |
| MMACHC | 1 | Apr 14, 2016 |
| MMP14 | 1 | Apr 14, 2016 |
| MPV17 | 1 | Apr 14, 2016 |
| MSH2 | 2 | Apr 14, 2016 |
| MSX1 | 1 | Apr 14, 2016 |
| MUTYH | 4 | Apr 14, 2016 |
| MYBPC3 | 1 | Apr 14, 2016 |
| MYH2 | 1 | Apr 14, 2016 |
| MYH7 | 1 | Apr 14, 2016 |
| MYH8 | 1 | Apr 14, 2016 |
| MYHAS | 2 | Apr 14, 2016 |
| MYO3A | 1 | Apr 14, 2016 |
| MYOZ2 | 1 | Apr 14, 2016 |
| MYPN | 1 | Apr 14, 2016 |
| NAGLU | 1 | Apr 14, 2016 |
| NBN | 1 | Apr 14, 2016 |
| NCSTN | 1 | Apr 14, 2016 |
| NDST1 | 1 | Apr 14, 2016 |
| NEXN | 1 | Apr 14, 2016 |
| NHLH1 | 1 | Apr 14, 2016 |
| NLRP1 | 1 | Apr 14, 2016 |
| NPHP1 | 1 | Apr 14, 2016 |
| NPHP4 | 1 | Apr 14, 2016 |
| NPHS1 | 3 | Apr 14, 2016 |
| NPHS2 | 1 | Apr 14, 2016 |
| NR0B1 | 1 | Apr 14, 2016 |
| NR1D1 | 1 | Apr 14, 2016 |
| OBSL1 | 1 | Apr 14, 2016 |
| OPTN | 1 | Apr 14, 2016 |
| ORC4 | 1 | Apr 14, 2016 |
| OTOF | 1 | Apr 14, 2016 |
| PAH | 3 | Apr 14, 2016 |
| PANK2 | 1 | Apr 14, 2016 |
| PCCA | 1 | Apr 14, 2016 |
| PCCB | 2 | Apr 14, 2016 |
| PCM1 | 1 | Apr 14, 2016 |
| PDE11A | 4 | Apr 14, 2016 |
| PDE11A-AS1 | 1 | Apr 14, 2016 |
| PDE6B | 1 | Apr 14, 2016 |
| PDK1-AS1 | 1 | Apr 14, 2016 |
| PEX7 | 1 | Apr 14, 2016 |
| PGAM2 | 1 | Apr 14, 2016 |
| PHEX | 1 | Apr 14, 2016 |
| PIKFYVE | 1 | Apr 14, 2016 |
| PKD1 | 1 | Apr 14, 2016 |
| PKLR | 1 | Apr 14, 2016 |
| PKP2 | 1 | Apr 14, 2016 |
| PLA2G7 | 1 | Apr 14, 2016 |
| PLG | 1 | Apr 14, 2016 |
| PLOD3 | 1 | Apr 14, 2016 |
| PMM2 | 1 | Apr 14, 2016 |
| POLG | 1 | Apr 14, 2016 |
| POLGARF | 1 | Apr 14, 2016 |
| POLH | 2 | Apr 14, 2016 |
| POLR1C | 3 | Apr 14, 2016 |
| POR | 1 | Apr 14, 2016 |
| PPT1 | 1 | Apr 14, 2016 |
| PRKAG2 | 1 | Apr 14, 2016 |
| PRKRA | 1 | Apr 14, 2016 |
| PRNP | 1 | Apr 14, 2016 |
| PROC | 2 | Apr 14, 2016 |
| PRODH | 1 | Apr 14, 2016 |
| PROKR2 | 1 | Apr 14, 2016 |
| PTCH2 | 1 | Apr 14, 2016 |
| PYGL | 1 | Apr 14, 2016 |
| RAD50 | 1 | Apr 14, 2016 |
| RARS2 | 1 | Apr 14, 2016 |
| RECQL4 | 1 | Apr 14, 2016 |
| RET | 2 | Apr 14, 2016 |
| RHAG | 1 | Apr 14, 2016 |
| RNASEH2B | 1 | Apr 14, 2016 |
| ROBO2 | 1 | Apr 14, 2016 |
| RP1 | 1 | Apr 14, 2016 |
| RP1L1 | 3 | Apr 14, 2016 |
| RPGRIP1 | 1 | Apr 14, 2016 |
| RPS10 | 1 | Apr 14, 2016 |
| RPS10-NUDT3 | 1 | Apr 14, 2016 |
| RYR1 | 1 | Apr 14, 2016 |
| RYR2 | 1 | Apr 14, 2016 |
| SAMD9 | 2 | Apr 14, 2016 |
| SCN10A | 1 | Apr 14, 2016 |
| SCN1A-AS1 | 2 | Apr 14, 2016 |
| SCN2B | 1 | Apr 14, 2016 |
| SCN5A | 1 | Apr 14, 2016 |
| SCN9A | 2 | Apr 14, 2016 |
| SCNN1B | 1 | Apr 14, 2016 |
| SEC23B | 1 | Apr 14, 2016 |
| SERPINA3 | 1 | Apr 14, 2016 |
| SERPINA7 | 1 | Apr 14, 2016 |
| SFTPC | 1 | Apr 14, 2016 |
| SLC12A3 | 4 | Apr 14, 2016 |
| SLC17A8 | 1 | Apr 14, 2016 |
| SLC22A12 | 1 | Apr 14, 2016 |
| SLC25A13 | 2 | Apr 14, 2016 |
| SLC26A4 | 3 | Apr 14, 2016 |
| SLC34A1 | 1 | Apr 14, 2016 |
| SLC3A1 | 1 | Apr 14, 2016 |
| SLC4A11 | 1 | Apr 14, 2016 |
| SLC7A9 | 1 | Apr 14, 2016 |
| SLCO2A1 | 3 | Apr 14, 2016 |
| SPG11 | 1 | Apr 14, 2016 |
| SPTB | 1 | Apr 14, 2016 |
| SRCAP | 1 | Apr 14, 2016 |
| STAR | 1 | Apr 14, 2016 |
| SUMF1 | 1 | Apr 14, 2016 |
| TBCE | 1 | Apr 14, 2016 |
| TBCEL-TECTA | 1 | Apr 14, 2016 |
| TCOF1 | 1 | Apr 14, 2016 |
| TECTA | 1 | Apr 14, 2016 |
| TG | 1 | Apr 14, 2016 |
| TGFBI | 1 | Apr 14, 2016 |
| TGM1 | 1 | Apr 14, 2016 |
| TH2LCRR | 1 | Apr 14, 2016 |
| THAP1 | 1 | Apr 14, 2016 |
| THRA | 1 | Apr 14, 2016 |
| TK2 | 1 | Apr 14, 2016 |
| TMEM237 | 1 | Apr 14, 2016 |
| TMEM67 | 1 | Apr 14, 2016 |
| TMPO | 2 | Apr 14, 2016 |
| TMPRSS3 | 1 | Apr 14, 2016 |
| TP53 | 1 | Apr 14, 2016 |
| TPO | 1 | Apr 14, 2016 |
| TRDN | 1 | Apr 14, 2016 |
| TREX1 | 2 | Apr 14, 2016 |
| TRIOBP | 1 | Apr 14, 2016 |
| TRIP11 | 1 | Apr 14, 2016 |
| TRPM1 | 2 | Apr 14, 2016 |
| TRPM4 | 1 | Apr 14, 2016 |
| TRPV3 | 1 | Apr 14, 2016 |
| TSC1 | 1 | Apr 14, 2016 |
| TSHR | 2 | Apr 14, 2016 |
| TSHR-AS1 | 2 | Apr 14, 2016 |
| TTN | 1 | Apr 14, 2016 |
| TXNL4B | 1 | Apr 14, 2016 |
| TYK2 | 1 | Apr 14, 2016 |
| UNC13D | 2 | Apr 14, 2016 |
| UPB1 | 1 | Apr 14, 2016 |
| USH2A | 5 | Apr 14, 2016 |
| WFS1 | 3 | Apr 14, 2016 |
| WNT10A | 2 | Apr 14, 2016 |
| WRAP53 | 1 | Apr 14, 2016 |
| WWOX | 1 | Apr 14, 2016 |
| XIAP | 1 | Apr 14, 2016 |
| ZDHHC24 | 1 | Apr 14, 2016 |
| ZEB2 | 1 | Apr 14, 2016 |
| ZNF454 | 1 | Apr 14, 2016 |