Department Of Translational Genomics (developmental Genetics Section) (King Faisal Specialist Hospital & Research Centre), DGU-KFSHRC
General information
Personnel
- Fowzan Alkuraya, Principal Investigator
Phone: +966114647272
Email: falkuraya@kfshrc.edu.sa - Hanan Shamseldin, Variant scientist/curator
Phone: +966114647272
Email: hshanseldin93@kfshrc.edu.sa - Lama Alabdi, Variant scientist/curator
Phone: +966114647272
Email: LALABDI@kfshrc.edu.sa - Sateesh Maddirevula, Variant scientist/curator
Phone: +966114647272
Email: msateesh@kfshrc.edu.sa
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 783
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABAT | 1 | Apr 14, 2015 |
| ABCA3 | 1 | Sep 12, 2021 |
| ABCA4 | 4 | Apr 14, 2015 |
| ABCB4 | 1 | Apr 14, 2015 |
| ABCC2 | 1 | Apr 14, 2015 |
| ABCC9 | 4 | Mar 8, 2024 |
| ABHD12 | 1 | Feb 14, 2024 |
| ACE | 1 | Dec 13, 2019 |
| ACOX1 | 1 | Sep 12, 2021 |
| ACTB | 1 | Apr 14, 2015 |
| ACTN2 | 1 | Feb 14, 2024 |
| ACYP1 | 1 | Dec 30, 2014 |
| ADAT3 | 1 | Dec 30, 2014 |
| ADK | 1 | Apr 14, 2015 |
| ADRA2B | 1 | Apr 14, 2015 |
| AGRN | 2 | Oct 3, 2016 |
| AGT | 1 | Dec 13, 2019 |
| AHI1 | 3 | Dec 13, 2019 |
| AICDA | 1 | Apr 14, 2015 |
| AIPL1 | 1 | Apr 14, 2015 |
| AK2 | 1 | Apr 14, 2015 |
| ALDH18A1 | 1 | Apr 14, 2015 |
| ALDH3A2 | 1 | Apr 14, 2015 |
| ALMS1 | 7 | Dec 13, 2019 |
| ALPL | 1 | Sep 12, 2021 |
| ALS2 | 1 | Apr 14, 2015 |
| AMPD2 | 1 | Dec 30, 2014 |
| ANK2 | 3 | Feb 14, 2024 |
| ANKRD1 | 1 | Apr 14, 2015 |
| ANKS3 | 1 | Sep 12, 2021 |
| AP4M1 | 1 | Dec 30, 2014 |
| ARFGEF2 | 2 | Apr 14, 2015 |
| ARHGEF6 | 1 | Oct 3, 2016 |
| ARID1B | 2 | Oct 3, 2016 |
| ARL13B | 2 | Oct 2, 2016 |
| ARL14EP | 2 | Apr 14, 2015 |
| ARL6 | 1 | Apr 14, 2015 |
| ARV1 | 1 | Dec 30, 2014 |
| ASAH1 | 1 | Apr 14, 2015 |
| ASCC1 | 1 | Sep 12, 2021 |
| ASNS | 1 | Sep 12, 2021 |
| ASPM | 3 | Sep 12, 2021 |
| ASXL1 | 3 | Mar 8, 2024 |
| ATL1 | 1 | Apr 14, 2015 |
| ATN1 | 1 | Apr 14, 2015 |
| ATP11C | 1 | Sep 12, 2021 |
| ATP1A3 | 2 | Sep 12, 2021 |
| ATP2B3 | 1 | Oct 3, 2016 |
| ATRX | 1 | Apr 14, 2015 |
| B3GAT3 | 1 | Sep 12, 2021 |
| B4GALT7 | 1 | Nov 8, 2016 |
| B4GAT1 | 2 | Sep 12, 2021 |
| B9D1 | 1 | Oct 2, 2016 |
| BAAT | 1 | Apr 14, 2015 |
| BAG3 | 1 | Apr 14, 2015 |
| BBIP1 | 1 | Dec 13, 2019 |
| BBS1 | 5 | Dec 13, 2019 |
| BBS10 | 1 | Oct 2, 2016 |
| BBS2 | 5 | Dec 13, 2019 |
| BBS4 | 4 | Oct 2, 2016 |
| BBS5 | 4 | Oct 2, 2016 |
| BBS7 | 2 | Dec 13, 2019 |
| BBS9 | 5 | Oct 2, 2016 |
| BCS1L | 1 | Sep 12, 2021 |
| BIVM-ERCC5 | 1 | Sep 12, 2021 |
| BLM | 1 | Apr 14, 2015 |
| BLTP1 | 3 | Sep 12, 2021 |
| BRCA2 | 2 | Oct 3, 2016 |
| C12orf57 | 1 | Dec 30, 2014 |
| C19orf12 | 1 | Dec 30, 2014 |
| C1QTNF5 | 2 | Apr 14, 2015 |
| C1orf105 | 1 | Apr 14, 2015 |
| CACNA1C | 1 | Apr 14, 2015 |
| CACNA1F | 2 | Oct 3, 2016 |
| CACNA1G | 2 | Apr 14, 2015 |
| CANT1 | 1 | Sep 12, 2021 |
| CAPN3 | 3 | Apr 14, 2015 |
| CBX3 | 1 | Feb 2, 2020 |
| CC2D2A | 3 | Dec 13, 2019 |
| CCDC172 | 1 | Dec 13, 2019 |
| CCDC68 | 1 | Feb 2, 2020 |
| CCDC88C | 1 | Apr 14, 2015 |
| CCDST | 1 | Oct 3, 2016 |
| CCNO | 1 | Feb 2, 2020 |
| CD247 | 1 | Oct 3, 2016 |
| CD40LG | 2 | Apr 14, 2015 |
| CDH23 | 2 | Apr 14, 2015 |
| CDHR1 | 3 | Apr 14, 2015 |
| CDK5RAP2 | 1 | Apr 14, 2015 |
| CELSR2 | 1 | Oct 2, 2016 |
| CENPH | 1 | Feb 2, 2020 |
| CENPJ | 1 | Apr 14, 2015 |
| CEP290 | 4 | Oct 2, 2016 |
| CEP295 | 1 | Dec 13, 2019 |
| CEP55 | 1 | Dec 13, 2019 |
| CEP57 | 1 | Apr 14, 2015 |
| CERKL | 1 | Apr 14, 2015 |
| CFAP184 | 1 | Dec 13, 2019 |
| CFTR | 1 | Apr 14, 2015 |
| CFTR-AS1 | 1 | Apr 14, 2015 |
| CHAF1B | 1 | Dec 30, 2014 |
| CHAT | 1 | Sep 12, 2021 |
| CHD7 | 2 | Oct 3, 2016 |
| CHM | 1 | Apr 14, 2015 |
| CHPT1 | 1 | Sep 12, 2021 |
| CHRNA1 | 3 | Sep 12, 2021 |
| CHRNG | 2 | Sep 12, 2021 |
| CIMIP2B | 1 | Dec 13, 2019 |
| CLHC1 | 1 | Dec 30, 2014 |
| CNGA3 | 3 | Apr 14, 2015 |
| CNNM4 | 1 | Apr 14, 2015 |
| CNTNAP1 | 1 | Sep 12, 2021 |
| COG6 | 1 | Dec 30, 2014 |
| COL11A2 | 3 | Sep 12, 2021 |
| COL18A1 | 2 | Apr 14, 2015 |
| COL1A1 | 4 | Apr 14, 2015 |
| COL1A2 | 1 | Apr 14, 2015 |
| COL2A1 | 1 | Apr 14, 2015 |
| COL4A3 | 1 | Apr 14, 2015 |
| COL4A4 | 3 | Apr 14, 2015 |
| COL4A6 | 1 | Apr 14, 2015 |
| COL6A1 | 1 | Apr 14, 2015 |
| COL6A2 | 1 | Apr 14, 2015 |
| COL6A3 | 1 | Apr 14, 2015 |
| COL7A1 | 1 | Apr 14, 2015 |
| COLEC11 | 1 | Oct 3, 2016 |
| COLGALT1 | 1 | Dec 13, 2019 |
| COQ8A | 2 | Apr 14, 2015 |
| CPA6 | 1 | Apr 14, 2015 |
| CPLANE1 | 3 | Dec 13, 2019 |
| CPT2 | 1 | Dec 13, 2019 |
| CRB1 | 3 | Apr 14, 2015 |
| CREBBP | 1 | Apr 14, 2015 |
| CRIPT | 2 | May 8, 2014 |
| CRPPA | 1 | Sep 12, 2021 |
| CRX | 2 | Apr 14, 2015 |
| CRYBA1 | 1 | Apr 14, 2015 |
| CRYGC | 1 | Apr 14, 2015 |
| CRYGD | 1 | Apr 14, 2015 |
| CSPP1 | 1 | Dec 30, 2014 |
| CTSA | 3 | Sep 17, 2021 |
| CTSD | 1 | Dec 30, 2014 |
| CTU2 | 4 | Jul 3, 2019 |
| CUL7 | 5 | Apr 14, 2015 |
| CYBB | 1 | Oct 3, 2016 |
| CYP27A1 | 2 | Apr 14, 2015 |
| CYP2U1 | 2 | Dec 30, 2014 |
| CZ1P-ASNS | 1 | Sep 12, 2021 |
| DCAF17 | 3 | Apr 14, 2015 |
| DCDC2 | 1 | Dec 13, 2019 |
| DCLRE1C | 2 | Apr 14, 2015 |
| DDHD2 | 1 | Dec 30, 2014 |
| DDX39A | 1 | Apr 14, 2015 |
| DEUP1 | 1 | Dec 13, 2019 |
| DIAPH1 | 1 | Dec 30, 2014 |
| DLAT | 1 | Sep 12, 2021 |
| DLL3 | 1 | Apr 14, 2015 |
| DMAP1 | 1 | Sep 12, 2021 |
| DMBX1 | 1 | Dec 30, 2014 |
| DMD | 2 | Apr 14, 2015 |
| DNA2 | 1 | Dec 30, 2014 |
| DNAH11 | 1 | Feb 2, 2020 |
| DNAH14 | 1 | Jun 6, 2017 |
| DOCK6 | 1 | Dec 30, 2014 |
| DOCK8 | 1 | Apr 14, 2015 |
| DPH1 | 2 | Sep 12, 2021 |
| DSG2 | 2 | Apr 14, 2015 |
| DSG2-AS1 | 1 | Apr 14, 2015 |
| DSP | 1 | Apr 14, 2015 |
| DYM | 5 | Apr 14, 2015 |
| DYNC2H1 | 2 | Sep 12, 2021 |
| DYNC2I1 | 2 | Dec 13, 2019 |
| DYNLT2B | 1 | Oct 2, 2016 |
| DYSF | 3 | Apr 14, 2015 |
| EBP | 1 | Apr 14, 2015 |
| ECEL1 | 2 | Apr 14, 2015 |
| EFEMP1 | 1 | Oct 3, 2016 |
| EHBP1L1 | 2 | Sep 12, 2021 |
| EHMT1 | 2 | Apr 14, 2015 |
| EML1 | 1 | Sep 12, 2021 |
| EOGT | 1 | Dec 30, 2014 |
| EP300 | 1 | Apr 14, 2015 |
| EPB41L4A | 1 | Dec 30, 2014 |
| EPHA2 | 1 | Apr 14, 2015 |
| ERCC2 | 1 | Sep 12, 2021 |
| ERCC5 | 1 | Sep 12, 2021 |
| ERCC8 | 1 | Apr 14, 2015 |
| ETFA | 2 | Sep 12, 2021 |
| EVC | 3 | Dec 13, 2019 |
| EVC2 | 2 | Sep 12, 2021 |
| EXOC3L2 | 2 | Sep 12, 2021 |
| EXOC4 | 1 | Dec 30, 2014 |
| EXT1 | 1 | Apr 14, 2015 |
| EYS | 1 | Apr 14, 2015 |
| FAAH2 | 1 | Sep 12, 2021 |
| FAM120AOS | 1 | Dec 30, 2014 |
| FAM149B1 | 1 | Dec 13, 2019 |
| FAM177A1 | 1 | Dec 30, 2014 |
| FAM20C | 1 | Dec 30, 2014 |
| FAM98C | 1 | Oct 2, 2016 |
| FAN1 | 1 | Apr 14, 2015 |
| FANCM | 1 | Oct 3, 2016 |
| FARS2 | 1 | Dec 30, 2014 |
| FBN2 | 1 | Dec 30, 2014 |
| FBXL4 | 1 | Dec 30, 2014 |
| FCRL4 | 1 | Sep 12, 2021 |
| FEN1 | 1 | Sep 12, 2021 |
| FERRY3 | 1 | Dec 30, 2014 |
| FKBP10 | 2 | Apr 14, 2015 |
| FKRP | 2 | Dec 13, 2019 |
| FKTN | 3 | Sep 12, 2021 |
| FLG | 1 | Oct 3, 2016 |
| FLVCR2 | 2 | Sep 12, 2021 |
| FOXG1 | 1 | Apr 14, 2015 |
| FRAS1 | 2 | Apr 14, 2015 |
| FREM2 | 1 | Sep 12, 2021 |
| FSHR | 1 | Feb 2, 2020 |
| FZD6 | 1 | Apr 14, 2015 |
| GAA | 1 | Oct 3, 2016 |
| GAL3ST2 | 1 | May 10, 2015 |
| GALNT14 | 1 | Apr 14, 2015 |
| GATAD1 | 2 | Sep 12, 2021 |
| GBA2 | 1 | Apr 14, 2015 |
| GCNT2 | 1 | Apr 14, 2015 |
| GDAP1 | 2 | Apr 14, 2015 |
| GDF3 | 1 | Apr 14, 2015 |
| GEMIN4 | 1 | Dec 30, 2014 |
| GFPT1 | 1 | Sep 12, 2021 |
| GHRHR | 1 | Apr 14, 2015 |
| GIGYF2 | 1 | Apr 14, 2015 |
| GLRX5 | 1 | Sep 12, 2021 |
| GM2A | 1 | Dec 30, 2014 |
| GNB5 | 1 | Aug 27, 2016 |
| GNPAT | 1 | Sep 12, 2021 |
| GNPTAB | 1 | Sep 12, 2021 |
| GNS | 1 | Apr 14, 2015 |
| GPR179 | 1 | Apr 14, 2015 |
| GPX4 | 1 | Sep 12, 2021 |
| GTPBP3 | 1 | Sep 12, 2021 |
| GUCY2D | 2 | Apr 14, 2015 |
| GUSB | 5 | Apr 14, 2015 |
| H6PD | 1 | Oct 3, 2016 |
| HEPACAM | 1 | Apr 14, 2015 |
| HPS1 | 1 | Apr 14, 2015 |
| HSD17B4 | 3 | Sep 12, 2021 |
| HSD3B7 | 1 | Apr 14, 2015 |
| HTRA2 | 1 | Sep 12, 2021 |
| HUWE1 | 1 | Oct 3, 2016 |
| IFT122 | 3 | Oct 2, 2016 |
| IFT140 | 1 | Oct 2, 2016 |
| IFT25 | 1 | Sep 12, 2021 |
| IFT56 | 2 | Sep 12, 2021 |
| IGF1 | 1 | May 8, 2014 |
| IGFBP7 | 1 | Sep 12, 2021 |
| IL7R | 2 | Apr 14, 2015 |
| IMPG2 | 5 | Oct 3, 2016 |
| INO80 | 2 | Dec 30, 2014 |
| INVS | 2 | Sep 12, 2021 |
| ISCA2 | 1 | Dec 30, 2014 |
| ITGB4 | 1 | Sep 12, 2021 |
| JAK3 | 2 | Apr 14, 2015 |
| KAAG1 | 1 | Dec 13, 2019 |
| KATNIP | 2 | Dec 13, 2019 |
| KCNE2 | 1 | Apr 14, 2015 |
| KCNH2 | 1 | Apr 14, 2015 |
| KCNJ13 | 1 | Apr 14, 2015 |
| KCTD3 | 1 | Dec 30, 2014 |
| KCTD7 | 1 | Sep 12, 2021 |
| KIAA0586 | 2 | Oct 2, 2016 |
| KIF19 | 2 | Sep 12, 2021 |
| KIF1A | 1 | Apr 14, 2015 |
| KIF7 | 1 | Dec 13, 2019 |
| KLHL41 | 1 | Dec 30, 2014 |
| KMT2A | 1 | Apr 14, 2015 |
| KMT2D | 1 | Apr 14, 2015 |
| KNL1 | 1 | Apr 14, 2015 |
| KRIT1 | 1 | Sep 12, 2021 |
| KRT83 | 1 | Apr 14, 2015 |
| L1CAM | 1 | Apr 14, 2015 |
| LACC1 | 1 | May 10, 2015 |
| LAMA2 | 2 | Apr 14, 2015 |
| LAMA3 | 1 | Sep 12, 2021 |
| LAMB2 | 2 | Apr 14, 2015 |
| LAMB3 | 2 | Sep 12, 2021 |
| LARGE1 | 1 | Apr 14, 2015 |
| LARS2 | 2 | Sep 12, 2021 |
| LCA5 | 1 | Apr 14, 2015 |
| LDB3 | 1 | Apr 14, 2015 |
| LFNG | 1 | Sep 12, 2021 |
| LGI4 | 1 | Sep 12, 2021 |
| LIFR | 1 | Apr 14, 2015 |
| LINC02456 | 1 | May 8, 2014 |
| LMNA | 2 | Oct 13, 2015 |
| LOC100129931 | 1 | Dec 13, 2019 |
| LOC100507443 | 2 | Apr 14, 2015 |
| LOC101928861 | 1 | Dec 30, 2014 |
| LOC105372791 | 1 | Apr 14, 2015 |
| LOC110121269 | 1 | Apr 14, 2015 |
| LOC121725110 | 1 | Dec 6, 2015 |
| LOC126805688 | 1 | Apr 14, 2015 |
| LOC126805793 | 1 | Apr 14, 2015 |
| LOC126805822 | 1 | Dec 30, 2014 |
| LOC126805881 | 1 | Sep 12, 2021 |
| LOC126806252 | 1 | Apr 14, 2015 |
| LOC126806423 | 1 | Oct 3, 2016 |
| LOC126806425 | 1 | Apr 14, 2015 |
| LOC126806433 | 1 | Apr 14, 2015 |
| LOC126807137 | 2 | Feb 14, 2024 |
| LOC126807212 | 1 | Sep 17, 2019 |
| LOC126859565 | 1 | Dec 30, 2014 |
| LOC126860055 | 1 | Apr 14, 2015 |
| LOC126861834 | 1 | Sep 12, 2021 |
| LOC126862047 | 1 | Sep 12, 2021 |
| LOC126862246 | 1 | Jun 10, 2021 |
| LOC127814297 | 1 | Apr 14, 2015 |
| LOC130065945 | 1 | Feb 2, 2020 |
| LOC130068093 | 1 | Oct 3, 2016 |
| LOC130068202 | 1 | Apr 14, 2015 |
| LOC651337 | 1 | Apr 14, 2015 |
| LOXHD1 | 1 | Oct 3, 2016 |
| LRAT | 1 | Apr 14, 2015 |
| LRP5 | 1 | Apr 14, 2015 |
| LRPPRC | 1 | Apr 14, 2015 |
| LRRC34 | 1 | Dec 13, 2019 |
| LRRCC1 | 1 | Oct 2, 2016 |
| LTBP2 | 1 | Apr 14, 2015 |
| LYST | 1 | Apr 14, 2015 |
| MAPKBP1 | 1 | Dec 13, 2019 |
| MASP1 | 1 | Apr 14, 2015 |
| MATN4 | 1 | Dec 30, 2014 |
| MCPH1 | 2 | Apr 14, 2015 |
| MCPH1-AS1 | 1 | Apr 14, 2015 |
| MECP2 | 1 | Apr 14, 2015 |
| MED23 | 1 | Apr 14, 2015 |
| MERTK | 3 | Apr 14, 2015 |
| MFF | 1 | Dec 30, 2014 |
| MFF-DT | 1 | Apr 14, 2015 |
| MFRP | 2 | Apr 14, 2015 |
| MFSD8 | 1 | Sep 12, 2021 |
| MGAT2 | 1 | Dec 30, 2014 |
| MKS1 | 6 | Sep 12, 2021 |
| MLPH | 2 | Apr 14, 2015 |
| MMACHC | 1 | Sep 12, 2021 |
| MMP2 | 1 | Apr 14, 2015 |
| MOCS3 | 1 | Sep 12, 2021 |
| MRI1 | 1 | Dec 30, 2014 |
| MSN | 1 | Sep 12, 2021 |
| MTR | 1 | Dec 30, 2014 |
| MTSS2 | 1 | Dec 30, 2014 |
| MTTP | 1 | Sep 12, 2021 |
| MYBPC3 | 2 | Apr 14, 2015 |
| MYBPHL | 1 | Sep 12, 2021 |
| MYH11 | 1 | Sep 12, 2021 |
| MYH6 | 1 | Apr 14, 2015 |
| MYL3 | 1 | Apr 14, 2015 |
| MYO7A | 2 | Apr 14, 2015 |
| MYOCD | 1 | Dec 30, 2014 |
| MYOM1 | 1 | Apr 14, 2015 |
| MYPN | 1 | Apr 14, 2015 |
| MZT2B | 1 | Dec 30, 2014 |
| NAXE | 1 | Sep 12, 2021 |
| NDE1 | 1 | Oct 3, 2016 |
| NDUFS1 | 1 | Apr 14, 2015 |
| NEB | 3 | Sep 12, 2021 |
| NECAP1 | 1 | Dec 30, 2014 |
| NEK1 | 2 | Oct 2, 2016 |
| NEK4 | 1 | Oct 2, 2016 |
| NEK8 | 1 | Apr 14, 2015 |
| NFIX | 2 | Apr 14, 2015 |
| NHEJ1 | 1 | Apr 14, 2015 |
| NHS | 2 | Apr 14, 2015 |
| NIBAN3 | 1 | Dec 13, 2019 |
| NID1 | 1 | Dec 30, 2014 |
| NLRP5 | 1 | Feb 2, 2020 |
| NLRP7 | 1 | Feb 2, 2020 |
| NMNAT1 | 1 | Apr 14, 2015 |
| NODAL | 1 | Sep 23, 2019 |
| NOTCH1 | 2 | Apr 14, 2015 |
| NPC2 | 1 | Dec 30, 2014 |
| NPHP3 | 2 | Dec 13, 2019 |
| NPHP3-ACAD11 | 3 | Sep 12, 2021 |
| NPHP4 | 3 | Apr 14, 2015 |
| NPHS1 | 1 | Apr 14, 2015 |
| NR2E3 | 5 | Apr 14, 2015 |
| NSD1 | 2 | Apr 14, 2015 |
| NTRK1 | 1 | Apr 14, 2015 |
| NUP107 | 1 | Dec 30, 2014 |
| NUP160 | 1 | Sep 12, 2021 |
| OBSL1 | 1 | Apr 14, 2015 |
| OCLN | 1 | Dec 30, 2014 |
| OFD1 | 1 | Oct 2, 2016 |
| OPLAH | 1 | Apr 14, 2015 |
| OPTN | 1 | Apr 14, 2015 |
| OTOF | 1 | Apr 14, 2015 |
| P3H1 | 1 | Apr 14, 2015 |
| PABPC1L | 1 | Feb 2, 2020 |
| PAX6 | 1 | Apr 14, 2015 |
| PCDHB4 | 1 | Dec 30, 2014 |
| PCDHB@ | 1 | Dec 30, 2014 |
| PCNT | 3 | Apr 14, 2015 |
| PDE6C | 4 | Apr 14, 2015 |
| PDE6D | 1 | Dec 13, 2019 |
| PDGFRB | 1 | Oct 3, 2016 |
| PDHA1 | 1 | Sep 12, 2021 |
| PDPR | 1 | Nov 13, 2019 |
| PEX1 | 5 | Sep 12, 2021 |
| PEX12 | 3 | Sep 12, 2021 |
| PEX26 | 1 | Apr 14, 2015 |
| PEX6 | 1 | Apr 14, 2015 |
| PHC1 | 1 | Dec 30, 2014 |
| PHGDH | 1 | Apr 14, 2015 |
| PIF1 | 1 | Feb 2, 2020 |
| PIGC | 1 | Apr 14, 2015 |
| PIGQ | 1 | Dec 30, 2014 |
| PKD1 | 1 | Dec 13, 2019 |
| PKHD1 | 5 | Dec 13, 2019 |
| PKP2 | 1 | Apr 14, 2015 |
| PLA2G6 | 2 | Sep 12, 2021 |
| PLK1 | 1 | Feb 2, 2020 |
| PLP1 | 1 | Apr 14, 2015 |
| PNKP | 1 | Dec 30, 2014 |
| PNPO | 1 | Sep 12, 2021 |
| POC1A | 1 | Dec 30, 2014 |
| POMGNT2 | 2 | Sep 12, 2021 |
| POMT1 | 1 | Sep 12, 2021 |
| POMT2 | 1 | Apr 14, 2015 |
| POU4F3 | 1 | Apr 14, 2015 |
| PPP1R12B | 1 | Sep 12, 2021 |
| PROM1 | 1 | Apr 14, 2015 |
| PRPF19 | 1 | Sep 12, 2021 |
| PRPH2 | 1 | Apr 14, 2015 |
| PRSS56 | 1 | Apr 14, 2015 |
| PTPN23 | 1 | Dec 30, 2014 |
| PTPRC | 1 | Apr 14, 2015 |
| PTRH2 | 1 | Dec 30, 2014 |
| RAB3GAP1 | 1 | Apr 14, 2015 |
| RAB9B | 1 | Apr 14, 2015 |
| RAG1 | 2 | Apr 14, 2015 |
| RAG2 | 3 | Apr 14, 2015 |
| RBBP8 | 1 | May 8, 2014 |
| RELN | 1 | Apr 14, 2015 |
| REN | 1 | Sep 12, 2021 |
| REXO4 | 1 | Feb 2, 2020 |
| RFXANK | 1 | Apr 14, 2015 |
| RGS9 | 1 | Apr 14, 2015 |
| RIPK4 | 1 | Oct 3, 2016 |
| RLBP1 | 2 | Apr 14, 2015 |
| RNASEH2A | 1 | Sep 12, 2021 |
| RNASEH2B | 1 | Apr 14, 2015 |
| RNASEH2C | 1 | Apr 14, 2015 |
| RNF216 | 1 | Dec 30, 2014 |
| ROR2 | 1 | Apr 14, 2015 |
| RP1 | 2 | Apr 14, 2015 |
| RP2 | 1 | Apr 14, 2015 |
| RPE65 | 1 | Apr 14, 2015 |
| RPGRIP1 | 1 | Apr 14, 2015 |
| RTTN | 4 | Dec 6, 2015 |
| RYR1 | 1 | Dec 30, 2014 |
| RYR2 | 3 | Jul 27, 2019 |
| SBF1 | 1 | Dec 30, 2014 |
| SCAMP4 | 1 | Dec 30, 2014 |
| SCARF2 | 1 | Apr 14, 2015 |
| SCN2A | 1 | Apr 14, 2015 |
| SCN5A | 1 | Apr 14, 2015 |
| SDCCAG8 | 1 | Dec 13, 2019 |
| SEC24D | 1 | Dec 30, 2014 |
| SEPSECS | 1 | Dec 30, 2014 |
| SERPINA11 | 1 | Sep 12, 2021 |
| SETX | 1 | Dec 30, 2014 |
| SFTPB | 1 | Oct 3, 2016 |
| SGCA | 1 | Apr 14, 2015 |
| SLC13A5 | 1 | Dec 30, 2014 |
| SLC16A12 | 1 | Apr 14, 2015 |
| SLC17A5 | 3 | Sep 12, 2021 |
| SLC19A1 | 1 | Apr 14, 2015 |
| SLC25A19 | 1 | Apr 14, 2015 |
| SLC25A42 | 1 | Dec 6, 2015 |
| SLC4A4 | 1 | Apr 14, 2015 |
| SMAD4 | 1 | Apr 14, 2015 |
| SMARCD2 | 1 | Sep 12, 2021 |
| SMG9 | 2 | Feb 11, 2016 |
| SNRNP200 | 1 | Apr 14, 2015 |
| SOS1 | 2 | Apr 14, 2015 |
| SPART | 2 | Apr 14, 2015 |
| SPATA7 | 1 | Apr 14, 2015 |
| SPDL1 | 1 | Dec 30, 2014 |
| SPG11 | 1 | Apr 14, 2015 |
| SPTBN2 | 1 | Apr 14, 2015 |
| ST7 | 1 | Dec 30, 2014 |
| ST7-AS2 | 1 | Dec 30, 2014 |
| STAT3 | 1 | Apr 14, 2015 |
| STXBP1 | 1 | Apr 14, 2015 |
| SUFU | 1 | Dec 13, 2019 |
| SVOPL | 1 | Sep 12, 2021 |
| SYNE2 | 1 | Apr 14, 2015 |
| SYNGAP1 | 1 | Apr 14, 2015 |
| TAF6 | 1 | Dec 30, 2014 |
| TAPT1 | 1 | Sep 12, 2021 |
| TASP1 | 1 | Jun 7, 2019 |
| TBCK | 1 | Dec 30, 2014 |
| TBX3 | 1 | Dec 4, 2018 |
| TCOF1 | 1 | Apr 14, 2015 |
| TCTN1 | 3 | Sep 12, 2021 |
| TCTN2 | 3 | Dec 13, 2019 |
| TGM1 | 1 | Apr 14, 2015 |
| THSD1 | 2 | Apr 14, 2015 |
| TIGD1 | 1 | Sep 12, 2021 |
| TJP2 | 1 | Apr 14, 2015 |
| TLE6 | 1 | Feb 2, 2020 |
| TLL1 | 1 | Sep 17, 2019 |
| TMEM138 | 2 | Dec 13, 2019 |
| TMEM17 | 1 | Dec 13, 2019 |
| TMEM231 | 3 | Sep 12, 2021 |
| TMEM237 | 1 | Dec 30, 2014 |
| TMEM256 | 1 | Oct 2, 2016 |
| TMEM256-PLSCR3 | 1 | Oct 2, 2016 |
| TMEM67 | 7 | Sep 12, 2021 |
| TMEM92 | 1 | Dec 30, 2014 |
| TMPRSS15 | 1 | Sep 12, 2021 |
| TNFRSF11B | 2 | Apr 14, 2015 |
| TOGARAM1 | 1 | Dec 13, 2019 |
| TP73 | 1 | Sep 12, 2021 |
| TRAK1 | 1 | Sep 12, 2021 |
| TRAPPC3 | 1 | Oct 2, 2016 |
| TRAPPC9 | 1 | Apr 14, 2015 |
| TRIP11 | 3 | Sep 12, 2021 |
| TRMT1 | 1 | Apr 14, 2015 |
| TRPM1 | 1 | Apr 14, 2015 |
| TSEN15 | 1 | Dec 30, 2014 |
| TTC21B | 1 | Dec 13, 2019 |
| TTC23 | 1 | Jun 10, 2021 |
| TTC6 | 1 | Dec 13, 2019 |
| TTC8 | 1 | Dec 13, 2019 |
| TTN | 21 | Oct 3, 2016 |
| TTN-AS1 | 14 | Oct 3, 2016 |
| TUBA1A | 1 | Apr 14, 2015 |
| TUBA3E | 1 | Dec 30, 2014 |
| TULP1 | 2 | Apr 14, 2015 |
| TXNDC15 | 2 | Oct 2, 2016 |
| TYMP | 1 | Apr 14, 2015 |
| UBA5 | 1 | Sep 12, 2021 |
| UBE3B | 1 | Apr 14, 2015 |
| UBN1 | 1 | Apr 14, 2015 |
| UBR1 | 2 | Sep 12, 2021 |
| UGCG | 1 | Sep 12, 2021 |
| UNC80 | 3 | Dec 6, 2015 |
| UPK3A | 1 | Apr 14, 2015 |
| USH2A | 2 | Oct 3, 2016 |
| USP2 | 1 | Sep 12, 2021 |
| VAPB | 1 | Oct 3, 2016 |
| VCL | 1 | Oct 3, 2016 |
| VIPAS39 | 1 | Oct 3, 2016 |
| VPS13D | 1 | Sep 12, 2021 |
| VRK1 | 1 | Sep 12, 2021 |
| WASHC5 | 1 | Apr 14, 2015 |
| WDPCP | 1 | Dec 13, 2019 |
| WDR19 | 4 | Sep 12, 2021 |
| WDR45B | 1 | Apr 14, 2015 |
| WDR81 | 4 | Sep 12, 2021 |
| WDR93 | 1 | Dec 30, 2014 |
| WFS1 | 1 | Oct 3, 2016 |
| WNK1 | 1 | Apr 14, 2015 |
| WWOX | 1 | Dec 30, 2014 |
| XDH | 1 | Oct 3, 2016 |
| XIRP1 | 1 | Dec 30, 2014 |
| XIRP2 | 1 | Sep 12, 2021 |
| XRCC4 | 1 | May 8, 2014 |
| YARS1 | 1 | Apr 14, 2015 |
| ZDHHC24 | 4 | Dec 13, 2019 |
| ZMIZ2 | 1 | Sep 12, 2021 |
| ZNF526 | 2 | Apr 14, 2015 |
| ZNF668 | 3 | Sep 12, 2021 |
| ZP1 | 1 | Feb 2, 2020 |