Broad Center for Mendelian Genomics (Broad Institute of MIT and Harvard), Broad CMG
General information
Broad Center for Mendelian Genomics, Broad CMG
Broad Institute of MIT and Harvard
75 Ames St
Cambridge
Massachusetts
United States - 02142-1403
https://cmg.broadinstitute.org/
Organization ID: 506627
Broad Institute of MIT and Harvard
75 Ames St
Cambridge
Massachusetts
United States - 02142-1403
https://cmg.broadinstitute.org/
Organization ID: 506627
Personnel
- Samantha Baxter, Genetic Counselor
Phone: 617-714-8012
Email: samantha@broadinstitute.org - Moriel Singer-Berk, Variant scientist/curator
Phone: 617-714-8012
Email: msingerb@broadinstitute.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3281
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 25 | May 3, 2023 |
| ABCA7 | 2 | Nov 27, 2024 |
| ABCB7 | 1 | May 3, 2023 |
| ABCC6 | 1 | Mar 10, 2020 |
| ABCC8 | 105 | Aug 16, 2023 |
| ABCD1 | 2 | May 4, 2022 |
| ACAD8 | 1 | Mar 10, 2020 |
| ACADS | 1 | Mar 10, 2020 |
| ACADVL | 1 | Jan 27, 2023 |
| ACER3 | 2 | Nov 27, 2024 |
| ACO2 | 1 | Sep 11, 2023 |
| ACSL4 | 1 | May 4, 2022 |
| ACTA1 | 4 | Jan 27, 2023 |
| ACTB | 1 | May 4, 2022 |
| ACTG2 | 1 | Jun 27, 2018 |
| ACTN2 | 4 | Dec 12, 2024 |
| ACTN4 | 1 | Mar 10, 2020 |
| ACTR1B | 2 | Mar 1, 2024 |
| ADA | 1 | Nov 17, 2020 |
| ADA2 | 2 | May 3, 2023 |
| ADAMTSL2 | 1 | May 3, 2023 |
| ADARB1 | 2 | May 29, 2020 |
| ADAT3 | 1 | Jun 27, 2018 |
| ADGRB2 | 1 | Jun 20, 2024 |
| ADGRG1 | 4 | Jan 27, 2023 |
| ADPRS | 1 | Jan 27, 2023 |
| ADSS1 | 2 | Nov 9, 2023 |
| AFAP1L1 | 2 | Nov 27, 2024 |
| AFG3L2 | 1 | Jan 27, 2023 |
| AGBL5 | 2 | Sep 29, 2021 |
| AGL | 1 | Nov 9, 2023 |
| AGTPBP1 | 2 | May 29, 2020 |
| AGXT | 1 | Jun 27, 2018 |
| AHDC1 | 2 | Jan 27, 2023 |
| AHI1 | 6 | May 4, 2022 |
| AIPL1 | 1 | Mar 10, 2020 |
| ALAS2 | 1 | May 3, 2023 |
| ALDH3A2 | 3 | May 4, 2022 |
| ALDH7A1 | 1 | May 4, 2022 |
| ALDOB | 1 | Sep 11, 2023 |
| ALG1 | 5 | May 3, 2023 |
| ALG3 | 1 | May 3, 2023 |
| ALMS1 | 8 | May 4, 2022 |
| ALS2 | 5 | May 3, 2023 |
| AMER1 | 1 | May 3, 2023 |
| AMPD2 | 2 | Jan 27, 2023 |
| AMT | 1 | May 4, 2022 |
| ANK1 | 1 | Mar 10, 2020 |
| ANK3 | 2 | May 4, 2022 |
| ANKRD11 | 1 | Jan 27, 2023 |
| ANO5 | 11 | Jan 27, 2023 |
| ANTXR2 | 1 | Mar 10, 2020 |
| AP1S2 | 1 | May 3, 2023 |
| AP3B2 | 2 | May 4, 2022 |
| AP4E1 | 3 | Sep 11, 2023 |
| AP4M1 | 1 | Dec 21, 2023 |
| APBB1 | 1 | Mar 9, 2020 |
| APOA5 | 1 | Mar 9, 2020 |
| APOB | 7 | Mar 9, 2020 |
| AR | 1 | Mar 10, 2020 |
| ARFGEF2 | 1 | Mar 10, 2020 |
| ARFGEF3 | 1 | Jun 20, 2024 |
| ARHGAP6 | 1 | Nov 27, 2024 |
| ARHGEF18 | 2 | Oct 3, 2019 |
| ARID1A | 2 | Jan 27, 2023 |
| ARID1B | 11 | Nov 9, 2023 |
| ARL6 | 1 | Sep 29, 2021 |
| ARMC9 | 4 | Mar 13, 2024 |
| ARSA | 2 | May 3, 2023 |
| ARSG | 1 | Jan 27, 2023 |
| ARX | 1 | Sep 26, 2018 |
| ASIC4-AS1 | 2 | Jan 27, 2023 |
| ASL | 1 | Mar 10, 2020 |
| ASNS | 8 | Nov 13, 2023 |
| ASPA | 2 | Oct 3, 2019 |
| ASPM | 9 | Jan 27, 2023 |
| ASTN2 | 5 | Oct 3, 2019 |
| ASXL3 | 4 | Jan 27, 2023 |
| ATAD3A | 1 | May 4, 2022 |
| ATCAY | 1 | Jan 27, 2023 |
| ATM | 2 | Sep 11, 2023 |
| ATP13A4 | 1 | Mar 10, 2020 |
| ATP1A1 | 1 | Nov 27, 2024 |
| ATP2B2 | 1 | Mar 10, 2020 |
| ATP5MF-PTCD1 | 1 | Mar 10, 2020 |
| ATP6V0A2 | 2 | Jan 27, 2023 |
| ATP6V0A4 | 1 | Mar 10, 2020 |
| ATP6V1B1 | 1 | Mar 10, 2020 |
| ATP7B | 2 | Mar 9, 2020 |
| ATP8A2 | 3 | Sep 11, 2023 |
| ATPAF2 | 1 | Sep 26, 2018 |
| ATRIP | 2 | May 3, 2023 |
| ATRIP-TREX1 | 2 | May 3, 2023 |
| ATRX | 4 | May 4, 2022 |
| ATXN7L3-AS1 | 1 | May 29, 2020 |
| AUTS2 | 1 | May 4, 2022 |
| B3GALNT2 | 1 | Sep 26, 2018 |
| B3GALT6 | 2 | Jan 27, 2023 |
| B4GALNT1 | 1 | Nov 21, 2018 |
| B9D1 | 1 | May 4, 2022 |
| BAG3 | 1 | Sep 26, 2018 |
| BBS1 | 7 | May 4, 2022 |
| BBS12 | 1 | May 3, 2023 |
| BBS2 | 10 | May 4, 2022 |
| BBS4 | 4 | May 4, 2022 |
| BBS5 | 1 | Sep 26, 2018 |
| BCKDHA | 1 | Mar 10, 2020 |
| BCL11A | 1 | May 3, 2023 |
| BCL11B | 2 | Aug 29, 2022 |
| BCS1L | 2 | Dec 12, 2024 |
| BET1 | 2 | Feb 28, 2019 |
| BET1-AS1 | 2 | Feb 28, 2019 |
| BLM | 1 | Oct 3, 2019 |
| BOLA3 | 1 | May 4, 2022 |
| BRAT1 | 1 | May 4, 2022 |
| BRCA1 | 3 | Mar 9, 2020 |
| BRCA2 | 3 | Mar 9, 2020 |
| BTD | 1 | Mar 10, 2020 |
| C10orf71 | 1 | Nov 27, 2024 |
| C11orf65 | 2 | Sep 11, 2023 |
| C12orf43 | 2 | Mar 9, 2020 |
| C12orf57 | 1 | May 4, 2022 |
| C17orf107 | 1 | May 4, 2022 |
| C1QTNF5 | 2 | Oct 3, 2019 |
| C2CD3 | 1 | May 4, 2022 |
| CACNA1A | 2 | Jan 27, 2023 |
| CACNA1F | 2 | Sep 11, 2023 |
| CACNA1S | 1 | May 29, 2020 |
| CAPN3 | 35 | Apr 11, 2024 |
| CAPRIN1 | 1 | Dec 21, 2023 |
| CARM1 | 1 | Jun 20, 2024 |
| CASK | 6 | Mar 28, 2024 |
| CASP10 | 1 | Mar 10, 2020 |
| CAT | 1 | Mar 10, 2020 |
| CBX8 | 1 | Nov 27, 2024 |
| CC2D2A | 3 | May 4, 2022 |
| CCDC15 | 2 | Jun 20, 2024 |
| CCDC40 | 1 | Mar 9, 2020 |
| CCDC88C | 1 | Jan 27, 2023 |
| CCN6 | 1 | Mar 10, 2020 |
| CCND2 | 1 | Oct 3, 2019 |
| CCNH | 1 | Mar 10, 2020 |
| CD46 | 1 | Mar 10, 2020 |
| CD99L2 | 1 | Nov 27, 2024 |
| CDAN1 | 1 | May 4, 2022 |
| CDC42BPB | 1 | Mar 13, 2024 |
| CDH2 | 1 | May 29, 2020 |
| CDHR1 | 11 | May 3, 2023 |
| CDK10 | 1 | Oct 3, 2019 |
| CDK11B | 2 | Nov 27, 2024 |
| CDK13 | 2 | Mar 13, 2024 |
| CDKL5 | 2 | Nov 9, 2023 |
| CDKN2A | 1 | Mar 10, 2020 |
| CEL | 2 | Mar 9, 2020 |
| CELF2 | 1 | Jun 20, 2024 |
| CELF3 | 2 | Nov 27, 2024 |
| CELSR1 | 2 | Nov 17, 2020 |
| CENPE | 1 | May 4, 2022 |
| CEP104 | 1 | Jan 27, 2023 |
| CEP290 | 11 | Jan 27, 2023 |
| CEP78 | 2 | Sep 11, 2023 |
| CEP83 | 2 | Mar 13, 2024 |
| CERKL | 6 | May 4, 2022 |
| CETP | 1 | Mar 10, 2020 |
| CFAP410 | 3 | May 3, 2023 |
| CFAP418 | 2 | May 4, 2022 |
| CFAP418-AS1 | 2 | May 4, 2022 |
| CFTR | 1 | Mar 10, 2020 |
| CHAT | 3 | May 4, 2022 |
| CHD2 | 1 | Jan 27, 2023 |
| CHD7 | 6 | Mar 13, 2024 |
| CHN1 | 2 | Mar 13, 2024 |
| CHRNB1 | 1 | Sep 11, 2023 |
| CHRNB2 | 1 | Mar 10, 2020 |
| CHRND | 4 | May 4, 2022 |
| CHRNE | 1 | May 4, 2022 |
| CHST3 | 1 | Nov 21, 2018 |
| CIAO1 | 2 | Dec 12, 2024 |
| CLASP1 | 3 | Dec 21, 2023 |
| CLCN1 | 3 | May 3, 2023 |
| CLCN5 | 2 | Mar 10, 2020 |
| CLCNKB | 1 | Mar 10, 2020 |
| CLMP | 1 | Jan 27, 2023 |
| CLN3 | 2 | Feb 12, 2024 |
| CLN5 | 2 | May 4, 2022 |
| CLN6 | 7 | May 3, 2023 |
| CLN8 | 3 | May 4, 2022 |
| CLP1 | 1 | Oct 3, 2019 |
| CLPB | 2 | May 4, 2022 |
| CLRN1 | 2 | May 4, 2022 |
| CLRN1-AS1 | 2 | May 4, 2022 |
| CLTC | 1 | Jan 27, 2023 |
| CLTCL1 | 1 | Mar 10, 2020 |
| CNGA1 | 2 | Sep 29, 2021 |
| CNGA3 | 1 | Mar 10, 2020 |
| CNGB1 | 5 | Sep 29, 2021 |
| CNGB3 | 1 | Mar 10, 2020 |
| CNKSR1 | 1 | Mar 10, 2020 |
| CNNM4 | 1 | Sep 29, 2021 |
| CNOT3 | 1 | Sep 11, 2023 |
| CNTNAP1 | 1 | Jul 17, 2024 |
| CNTNAP2 | 1 | Sep 11, 2023 |
| COG5 | 3 | Nov 17, 2020 |
| COL11A1 | 1 | Dec 21, 2023 |
| COL12A1 | 2 | May 3, 2023 |
| COL13A1 | 4 | May 3, 2023 |
| COL25A1 | 1 | Dec 12, 2024 |
| COL4A1 | 3 | May 4, 2022 |
| COL4A2 | 1 | Jan 27, 2023 |
| COL4A3 | 1 | May 3, 2023 |
| COL4A5 | 3 | May 4, 2022 |
| COL6A1 | 2 | May 3, 2023 |
| COL6A2 | 9 | Sep 11, 2023 |
| COL6A3 | 7 | Dec 21, 2023 |
| COL7A1 | 1 | Mar 1, 2024 |
| COLQ | 5 | Sep 11, 2023 |
| COQ2 | 2 | May 3, 2023 |
| COQ8A | 2 | Nov 9, 2023 |
| CPAP | 2 | May 4, 2022 |
| CPEB1-AS1 | 2 | May 4, 2022 |
| CPLANE1 | 8 | Oct 3, 2019 |
| CPOX | 1 | Jan 27, 2023 |
| CPS1 | 1 | Mar 10, 2020 |
| CRB1 | 12 | Sep 11, 2023 |
| CREBBP | 4 | Sep 11, 2023 |
| CRELD1 | 2 | Nov 27, 2024 |
| CRPPA | 1 | Oct 3, 2019 |
| CRX | 2 | Sep 11, 2023 |
| CRYGC | 2 | Mar 10, 2020 |
| CRYGD | 1 | Mar 10, 2020 |
| CSMD3 | 2 | Nov 27, 2024 |
| CSNK2A1 | 1 | Dec 12, 2024 |
| CTCF | 1 | Dec 13, 2024 |
| CTNNA1 | 1 | Mar 1, 2024 |
| CTNNB1 | 1 | Nov 9, 2023 |
| CTNND1 | 1 | Jan 27, 2023 |
| CUX1 | 4 | Mar 1, 2024 |
| CWF19L1 | 1 | Oct 3, 2019 |
| CYFIP2 | 1 | May 29, 2020 |
| CYP1B1 | 1 | Mar 10, 2020 |
| CYP27A1 | 1 | Mar 10, 2020 |
| CYP2U1 | 2 | May 3, 2023 |
| CYP7B1 | 1 | Nov 21, 2018 |
| CZ1P-ASNS | 8 | Nov 13, 2023 |
| DARS2 | 2 | Sep 4, 2024 |
| DCC | 5 | Sep 11, 2023 |
| DCX | 3 | Nov 9, 2023 |
| DDC | 1 | Nov 21, 2018 |
| DDX3X | 5 | May 3, 2023 |
| DEGS1 | 2 | Jan 27, 2023 |
| DES | 3 | Sep 11, 2023 |
| DHDDS | 4 | May 4, 2022 |
| DHX16 | 1 | Nov 27, 2024 |
| DIAPH1 | 1 | Nov 21, 2018 |
| DICER1 | 1 | Jun 20, 2024 |
| DLG4 | 1 | Jan 27, 2023 |
| DMC1 | 1 | Mar 10, 2020 |
| DMD | 14 | Nov 13, 2023 |
| DNAJB6 | 1 | Sep 26, 2018 |
| DNAJC12 | 1 | Jan 27, 2023 |
| DNAJC21 | 1 | Oct 3, 2019 |
| DNM1 | 1 | May 3, 2023 |
| DNMT3A | 1 | May 3, 2023 |
| DOK7 | 1 | Nov 9, 2023 |
| DSP | 1 | Mar 9, 2020 |
| DTNA | 1 | Dec 12, 2024 |
| DUOX2 | 1 | Mar 10, 2020 |
| DUSP29 | 1 | Jan 27, 2023 |
| DYNC1I2 | 2 | May 29, 2020 |
| DYNC2H1 | 1 | Jan 27, 2023 |
| DYRK1A | 3 | Jun 20, 2024 |
| DYSF | 28 | Sep 11, 2023 |
| EBF3 | 3 | Jan 27, 2023 |
| ECEL1 | 1 | Mar 13, 2024 |
| ECHS1 | 2 | Nov 17, 2020 |
| ECI1 | 1 | Mar 10, 2020 |
| EDN3 | 1 | Mar 10, 2020 |
| EDNRB | 1 | Mar 10, 2020 |
| EDNRB-AS1 | 1 | Mar 10, 2020 |
| EEF2 | 1 | Jan 27, 2023 |
| EFHC2 | 1 | Mar 10, 2020 |
| EFNB1 | 2 | May 3, 2023 |
| EHMT1 | 2 | Dec 13, 2024 |
| EIF2AK2 | 1 | Mar 11, 2020 |
| EMC1 | 2 | May 3, 2023 |
| EMC1-AS1 | 1 | May 3, 2023 |
| EMD | 1 | Sep 11, 2023 |
| ENG | 1 | Mar 10, 2020 |
| ENPP1 | 1 | Mar 10, 2020 |
| EP300 | 1 | May 29, 2020 |
| EPCAM | 1 | Nov 21, 2018 |
| EPG5 | 3 | May 3, 2023 |
| EPM2A | 1 | Mar 29, 2024 |
| EPM2A-DT | 1 | Mar 29, 2024 |
| EPOR | 1 | Mar 10, 2020 |
| ERCC6L2 | 1 | May 3, 2023 |
| ERLIN1 | 1 | May 3, 2023 |
| EXOSC3 | 1 | Oct 3, 2019 |
| EXOSC8 | 2 | Oct 3, 2019 |
| EXOSC9 | 1 | Oct 5, 2020 |
| EYS | 25 | Sep 11, 2023 |
| F8 | 1 | Mar 10, 2020 |
| FAM161A | 2 | Sep 29, 2021 |
| FANCA | 4 | Sep 11, 2023 |
| FAT4 | 3 | May 3, 2023 |
| FBN1 | 2 | Mar 9, 2020 |
| FBP2 | 1 | Jun 20, 2024 |
| FBXL3 | 1 | Oct 3, 2019 |
| FBXL4 | 2 | May 3, 2023 |
| FBXO28 | 1 | Nov 27, 2024 |
| FER | 2 | Mar 1, 2024 |
| FGD1 | 1 | Mar 13, 2024 |
| FGF21 | 1 | Mar 1, 2024 |
| FHL1 | 1 | Sep 11, 2023 |
| FIG4 | 2 | May 29, 2020 |
| FKBP14 | 2 | Jan 27, 2023 |
| FKBP14-AS1 | 2 | Jan 27, 2023 |
| FKRP | 2 | May 29, 2020 |
| FLNC | 3 | May 3, 2023 |
| FLNC-AS1 | 1 | Oct 3, 2019 |
| FLVCR1 | 2 | Sep 29, 2021 |
| FLYWCH1 | 1 | Nov 27, 2024 |
| FOLR1 | 2 | Jan 27, 2023 |
| FOXC1 | 1 | Nov 17, 2020 |
| FOXF1 | 1 | Jan 27, 2023 |
| FOXG1 | 3 | Mar 13, 2024 |
| FOXL2 | 2 | Mar 13, 2024 |
| FOXP1 | 1 | May 3, 2023 |
| FOXP3 | 1 | May 3, 2023 |
| FRAS1 | 1 | Mar 10, 2020 |
| FRMPD4 | 1 | Nov 21, 2018 |
| FTL | 2 | May 3, 2023 |
| FUCA1 | 1 | Nov 21, 2018 |
| FUT2 | 1 | Mar 10, 2020 |
| FUT6 | 3 | Mar 10, 2020 |
| FXR1 | 3 | Nov 17, 2020 |
| FYCO1 | 1 | May 3, 2023 |
| FZD4 | 1 | Mar 10, 2020 |
| G6PD | 2 | Mar 10, 2020 |
| GAA | 212 | Jan 27, 2023 |
| GABRA1 | 1 | May 3, 2023 |
| GALC | 3 | Mar 10, 2020 |
| GAMT | 28 | Sep 13, 2022 |
| GAN | 1 | May 3, 2023 |
| GATA3 | 1 | May 29, 2020 |
| GATA4 | 1 | Mar 10, 2020 |
| GBA1 | 45 | Mar 9, 2020 |
| GBE1 | 47 | Jul 17, 2024 |
| GCK | 27 | Mar 9, 2020 |
| GCKR | 1 | Mar 10, 2020 |
| GDAP1 | 1 | May 3, 2023 |
| GEMIN5 | 2 | Nov 27, 2024 |
| GFPT1 | 1 | May 3, 2023 |
| GGPS1 | 2 | Nov 27, 2024 |
| GH-LCR | 2 | Nov 27, 2024 |
| GHR | 1 | May 3, 2023 |
| GJC2 | 1 | Nov 21, 2018 |
| GLA | 29 | Aug 5, 2024 |
| GLDC | 1 | Mar 10, 2020 |
| GLDN | 3 | Nov 27, 2024 |
| GLI2 | 1 | Mar 10, 2020 |
| GLI3 | 1 | May 3, 2023 |
| GLRA1 | 2 | May 3, 2023 |
| GLRA2 | 1 | Dec 21, 2023 |
| GLUL | 1 | Jan 9, 2025 |
| GMPPB | 1 | May 3, 2023 |
| GNAO1 | 1 | Oct 2, 2023 |
| GNAS | 5 | Mar 1, 2024 |
| GNAS-AS1 | 2 | Mar 1, 2024 |
| GNAT1 | 1 | Sep 29, 2021 |
| GNB1 | 1 | May 4, 2022 |
| GNPTAB | 1 | Mar 10, 2020 |
| GOT2 | 2 | May 29, 2020 |
| GPHN | 7 | May 29, 2020 |
| GREB1L | 2 | Jan 27, 2023 |
| GRID2 | 1 | Sep 11, 2023 |
| GRIN1 | 1 | Oct 3, 2019 |
| GRIN2A | 1 | May 22, 2024 |
| GTF2A1 | 1 | Nov 27, 2024 |
| GUCY2D | 2 | Jan 27, 2023 |
| GYG1 | 2 | May 3, 2023 |
| GYS2 | 1 | Jan 27, 2023 |
| H1-4 | 1 | Oct 3, 2019 |
| H3-3B | 1 | Nov 17, 2020 |
| HACD1 | 1 | Jun 20, 2024 |
| HADH | 9 | Nov 2, 2021 |
| HAPLN2 | 1 | Nov 27, 2024 |
| HBB | 2 | May 3, 2023 |
| HDAC8 | 1 | May 3, 2023 |
| HELZ | 1 | Nov 27, 2024 |
| HEXA | 1 | Mar 10, 2020 |
| HEXB | 1 | Sep 11, 2023 |
| HGSNAT | 2 | Sep 29, 2021 |
| HIBCH | 1 | Nov 21, 2018 |
| HK1 | 2 | May 29, 2020 |
| HMGB1 | 1 | Nov 27, 2024 |
| HMGCR | 1 | Nov 27, 2024 |
| HNF1A | 42 | Mar 9, 2020 |
| HNF1B | 16 | Dec 21, 2023 |
| HNF4A | 12 | Mar 10, 2020 |
| HNRNPH2 | 1 | Mar 9, 2020 |
| HNRNPK | 3 | Mar 13, 2024 |
| HNRNPK-AS1 | 2 | May 3, 2023 |
| HNRNPU | 1 | May 29, 2020 |
| HOXB1 | 1 | Sep 26, 2018 |
| HPS1 | 30 | Feb 11, 2022 |
| HPS4 | 9 | Jan 27, 2023 |
| HR | 1 | Mar 10, 2020 |
| HRAS | 1 | Mar 1, 2024 |
| HS6ST1 | 1 | Mar 10, 2020 |
| HSD11B1 | 1 | Mar 10, 2020 |
| HSD11B1-AS1 | 1 | Mar 10, 2020 |
| HSPB8 | 1 | May 29, 2020 |
| HSPG2 | 4 | Nov 27, 2024 |
| HTRA2 | 1 | Mar 10, 2020 |
| HYCC1 | 1 | Sep 26, 2018 |
| IARS1 | 1 | May 3, 2023 |
| IDH3A | 2 | Sep 29, 2021 |
| IDUA | 34 | Dec 11, 2023 |
| IFIH1 | 1 | Jun 27, 2018 |
| IFT140 | 6 | Sep 11, 2023 |
| IFT172 | 3 | Sep 29, 2021 |
| IGHMBP2 | 4 | Nov 27, 2024 |
| IMPG2 | 1 | May 3, 2023 |
| INCA1 | 2 | Oct 3, 2019 |
| INHA | 1 | Mar 10, 2020 |
| INPP5E | 3 | May 3, 2023 |
| INSR | 1 | Mar 10, 2020 |
| IRF2BPL | 2 | Aug 29, 2022 |
| ITGA2 | 1 | Mar 10, 2020 |
| ITPA | 1 | May 3, 2023 |
| ITPR1 | 1 | Oct 3, 2019 |
| KANSL1 | 3 | May 22, 2024 |
| KANSL3 | 2 | Jun 20, 2024 |
| KAT6B | 4 | Jan 27, 2023 |
| KCNB1 | 2 | May 22, 2024 |
| KCNJ10 | 2 | Jan 27, 2023 |
| KCNQ1 | 1 | Mar 9, 2020 |
| KDM5B | 1 | May 3, 2023 |
| KDM5C | 2 | Nov 27, 2024 |
| KDM8 | 2 | Nov 17, 2020 |
| KIAA0586 | 2 | Mar 13, 2024 |
| KIDINS220 | 2 | May 3, 2023 |
| KIF11 | 6 | May 3, 2023 |
| KIF14 | 1 | May 29, 2020 |
| KIF1A | 1 | Oct 3, 2019 |
| KIF1C | 3 | Jan 27, 2023 |
| KIF21A | 2 | Mar 13, 2024 |
| KIF21B | 1 | Mar 13, 2024 |
| KIF5B | 1 | Feb 8, 2023 |
| KIF5C | 3 | Mar 1, 2024 |
| KIFBP | 2 | Mar 13, 2024 |
| KIT | 1 | Mar 10, 2020 |
| KIZ | 1 | Jun 5, 2023 |
| KLB | 1 | Mar 1, 2024 |
| KLF9-DT | 1 | Nov 17, 2020 |
| KLHL7 | 1 | Sep 29, 2021 |
| KMT2A | 3 | May 3, 2023 |
| KMT2D | 4 | Mar 13, 2024 |
| KMT2E | 32 | Feb 11, 2019 |
| KRT8 | 1 | Mar 10, 2020 |
| KRTCAP3 | 1 | Sep 29, 2021 |
| L1CAM | 1 | May 3, 2023 |
| LAMA1 | 1 | Jan 27, 2023 |
| LAMA2 | 6 | May 3, 2023 |
| LAMA5 | 1 | Nov 17, 2020 |
| LAMB1 | 2 | May 3, 2023 |
| LAMB2 | 1 | Sep 26, 2018 |
| LAMC3 | 2 | Oct 3, 2019 |
| LARP7 | 1 | May 3, 2023 |
| LCA5 | 1 | Sep 29, 2021 |
| LDB3 | 1 | Jan 27, 2023 |
| LDLR | 65 | Sep 4, 2024 |
| LDLR-AS1 | 1 | Mar 9, 2020 |
| LDLRAD2 | 1 | Nov 27, 2024 |
| LIG1 | 2 | Dec 12, 2024 |
| LIX1L-AS1 | 1 | Oct 3, 2019 |
| LMNA | 5 | Mar 9, 2020 |
| LMNB2 | 1 | Mar 10, 2020 |
| LMOD3 | 1 | Jan 27, 2023 |
| LNPK | 1 | Jan 27, 2023 |
| LOC100287944 | 8 | Jan 27, 2023 |
| LOC100507443 | 3 | Mar 10, 2020 |
| LOC101927157 | 2 | Sep 29, 2021 |
| LOC102724058 | 2 | Mar 13, 2024 |
| LOC105371046 | 3 | Jan 27, 2023 |
| LOC105378311 | 2 | Jan 27, 2023 |
| LOC105447645 | 1 | Mar 10, 2020 |
| LOC106099062 | 2 | May 3, 2023 |
| LOC106501713 | 1 | Mar 10, 2020 |
| LOC106627981 | 42 | Mar 9, 2020 |
| LOC107133510 | 2 | May 3, 2023 |
| LOC107984638 | 1 | Nov 17, 2020 |
| LOC108663984 | 1 | May 3, 2023 |
| LOC109279247 | 1 | Mar 1, 2024 |
| LOC110011216 | 1 | Mar 13, 2024 |
| LOC110121269 | 1 | Mar 9, 2020 |
| LOC110121471 | 2 | Aug 16, 2023 |
| LOC112042785 | 1 | Jan 27, 2023 |
| LOC112486223 | 1 | Jan 27, 2023 |
| LOC112997540 | 1 | May 3, 2023 |
| LOC126805688 | 1 | Jun 20, 2024 |
| LOC126805793 | 2 | Sep 29, 2021 |
| LOC126805822 | 2 | Jan 27, 2023 |
| LOC126805851 | 1 | Oct 3, 2019 |
| LOC126806173 | 1 | Sep 29, 2021 |
| LOC126806274 | 1 | Jun 20, 2024 |
| LOC126806420 | 1 | May 3, 2023 |
| LOC126806421 | 1 | Jan 27, 2023 |
| LOC126806951 | 1 | Nov 9, 2023 |
| LOC126860392 | 1 | Sep 29, 2021 |
| LOC126860970 | 2 | Jan 25, 2024 |
| LOC126860971 | 2 | Jan 25, 2024 |
| LOC126861242 | 2 | Oct 7, 2024 |
| LOC126861339 | 1 | Mar 9, 2020 |
| LOC126861897 | 2 | May 3, 2023 |
| LOC126862115 | 2 | Oct 3, 2019 |
| LOC126862264 | 1 | Jul 1, 2017 |
| LOC126862473 | 1 | Jan 27, 2023 |
| LOC126862549 | 2 | Mar 9, 2020 |
| LOC126862673 | 1 | Nov 17, 2020 |
| LOC126862757 | 2 | Nov 13, 2023 |
| LOC126862902 | 1 | Jan 27, 2023 |
| LOC126863258 | 1 | Oct 3, 2019 |
| LOC129931299 | 1 | Jan 9, 2025 |
| LOC129931597 | 1 | Sep 26, 2018 |
| LOC129934069 | 1 | Sep 26, 2018 |
| LOC129935026 | 1 | Jan 27, 2023 |
| LOC129935183 | 1 | May 3, 2023 |
| LOC129993881 | 1 | Jan 27, 2023 |
| LOC129997381 | 1 | Mar 29, 2024 |
| LOC130000784 | 2 | May 4, 2022 |
| LOC130005023 | 1 | Nov 17, 2020 |
| LOC130009117 | 1 | Jan 27, 2023 |
| LOC130009581 | 1 | Oct 3, 2019 |
| LOC130055387 | 2 | Sep 29, 2021 |
| LOC130056921 | 1 | Sep 26, 2018 |
| LOC130057317 | 1 | Nov 27, 2024 |
| LOC130061524 | 1 | Jan 27, 2023 |
| LOC130061880 | 1 | Nov 27, 2024 |
| LOC130061897 | 1 | Mar 9, 2020 |
| LOC130062945 | 4 | Nov 2, 2021 |
| LOC130065509 | 1 | Jun 5, 2023 |
| LONP1 | 2 | Oct 3, 2019 |
| LOXL3 | 1 | Mar 10, 2020 |
| LPA | 1 | Mar 10, 2020 |
| LPIN2 | 1 | Mar 10, 2020 |
| LPL | 5 | Aug 5, 2024 |
| LRP1 | 1 | Nov 27, 2024 |
| LRRC56 | 1 | Mar 1, 2024 |
| LRRK2 | 1 | Mar 10, 2020 |
| LSM1 | 1 | May 29, 2020 |
| LYST | 2 | Oct 3, 2019 |
| LYZ | 1 | Mar 10, 2020 |
| LZTR1 | 2 | May 3, 2023 |
| MACF1 | 2 | Mar 13, 2024 |
| MAFB | 2 | Mar 13, 2024 |
| MAGEL2 | 1 | May 29, 2020 |
| MAK | 1 | Sep 11, 2023 |
| MAMLD1 | 1 | Mar 10, 2020 |
| MAP2K4 | 1 | Jun 20, 2024 |
| MBD5 | 1 | Aug 29, 2022 |
| MBOAT7 | 1 | May 29, 2020 |
| MC4R | 13 | Mar 9, 2020 |
| MCEE | 1 | Mar 10, 2020 |
| MCM3AP | 4 | Mar 13, 2024 |
| MCM3AP-AS1 | 3 | Mar 13, 2024 |
| MCM6 | 1 | Jun 20, 2024 |
| MCOLN1 | 1 | Nov 21, 2018 |
| MCTP1 | 1 | Nov 27, 2024 |
| MDM1 | 1 | Aug 31, 2023 |
| MECOM | 2 | May 17, 2023 |
| MED12 | 2 | Nov 27, 2024 |
| MED13L | 1 | Dec 13, 2024 |
| MEFV | 2 | Mar 10, 2020 |
| MERTK | 7 | Sep 11, 2023 |
| MFF-DT | 1 | May 3, 2023 |
| MFN2 | 1 | Nov 27, 2024 |
| MFRP | 2 | Oct 3, 2019 |
| MFSD8 | 4 | Sep 11, 2023 |
| MGAT2 | 2 | Sep 26, 2018 |
| MHRT | 3 | May 3, 2023 |
| MILR1 | 1 | Mar 10, 2020 |
| MIPEP | 1 | Nov 9, 2023 |
| MIR302CHG | 1 | May 3, 2023 |
| MIR4685 | 1 | Feb 11, 2022 |
| MIR6797 | 1 | May 22, 2024 |
| MKS1 | 2 | May 3, 2023 |
| MLC1 | 2 | Nov 21, 2018 |
| MOCS2 | 1 | Jan 27, 2023 |
| MPO | 1 | Mar 10, 2020 |
| MSH2 | 1 | Mar 9, 2020 |
| MSL3 | 1 | Sep 11, 2023 |
| MSR1 | 1 | Mar 10, 2020 |
| MSTO1 | 9 | Dec 13, 2024 |
| MTM1 | 4 | Nov 27, 2024 |
| MUSK | 1 | May 3, 2023 |
| MVK | 1 | Mar 10, 2020 |
| MVP-DT | 1 | Nov 27, 2024 |
| MYBPC3 | 2 | Oct 3, 2019 |
| MYH10 | 5 | Mar 1, 2024 |
| MYH2 | 2 | May 3, 2023 |
| MYH7 | 7 | Sep 4, 2024 |
| MYH8 | 2 | Nov 27, 2024 |
| MYHAS | 4 | Nov 27, 2024 |
| MYMK | 3 | Nov 17, 2020 |
| MYO15B | 2 | Dec 21, 2023 |
| MYO7B | 1 | Nov 27, 2024 |
| MYPN | 1 | Mar 10, 2020 |
| MYRF | 1 | May 29, 2020 |
| MZT2B | 1 | Mar 13, 2024 |
| NALCN | 3 | May 3, 2023 |
| NBEAL2 | 1 | May 3, 2023 |
| NCF2 | 1 | Mar 10, 2020 |
| NDST1 | 1 | Nov 27, 2024 |
| NDUFA12 | 1 | Oct 3, 2019 |
| NDUFAF6 | 2 | May 3, 2023 |
| NDUFV1 | 3 | Oct 7, 2024 |
| NEB | 19 | Nov 14, 2024 |
| NES | 1 | Mar 1, 2024 |
| NF1 | 1 | Mar 10, 2020 |
| NF2 | 1 | Mar 9, 2020 |
| NFASC | 2 | Dec 12, 2024 |
| NFE2L3 | 2 | Jun 20, 2024 |
| NFIA | 2 | Jan 27, 2023 |
| NFIX | 1 | Jan 27, 2023 |
| NGLY1 | 1 | Sep 11, 2023 |
| NHLRC1 | 1 | Oct 3, 2019 |
| NIPBL | 1 | Dec 13, 2024 |
| NKX2-5 | 1 | Mar 10, 2020 |
| NLGN4X | 1 | May 3, 2023 |
| NLRP14 | 2 | Mar 10, 2020 |
| NOTCH2 | 2 | May 29, 2020 |
| NOTCH3 | 1 | Dec 21, 2023 |
| NPC1 | 2 | Oct 3, 2019 |
| NPHP1 | 1 | Mar 10, 2020 |
| NPHP3 | 3 | May 3, 2023 |
| NPHP3-ACAD11 | 5 | May 3, 2023 |
| NPHP4 | 3 | Sep 29, 2021 |
| NPHS1 | 8 | Oct 7, 2024 |
| NPHS2 | 2 | Oct 3, 2019 |
| NR2E3 | 2 | Sep 29, 2021 |
| NR2F1 | 2 | Jun 20, 2024 |
| NR2F1-AS1 | 2 | Jun 20, 2024 |
| NR5A1 | 1 | May 22, 2024 |
| NRL | 2 | Sep 29, 2021 |
| NSD1 | 2 | May 3, 2023 |
| NSUN2 | 3 | May 3, 2023 |
| NTF4 | 1 | Mar 10, 2020 |
| NTNG2 | 2 | May 29, 2020 |
| NTRK1 | 1 | Jan 27, 2023 |
| NUP93 | 3 | Oct 3, 2019 |
| OCLN | 2 | May 3, 2023 |
| OCRL | 2 | May 3, 2023 |
| ODAD2 | 1 | Mar 13, 2024 |
| OFD1 | 2 | May 29, 2020 |
| OGT | 1 | May 29, 2020 |
| OPA1 | 4 | Nov 27, 2024 |
| OPHN1 | 1 | May 3, 2023 |
| OTC | 1 | Mar 9, 2020 |
| OTOF | 1 | Mar 10, 2020 |
| OTUD6B | 2 | Mar 13, 2024 |
| OTX2 | 1 | Jan 27, 2023 |
| PAFAH1B1 | 2 | Jun 27, 2018 |
| PAGE2B | 1 | May 3, 2023 |
| PAGR1 | 1 | Nov 27, 2024 |
| PARK7 | 1 | Mar 10, 2020 |
| PAX2 | 2 | Jan 27, 2023 |
| PBX1 | 1 | May 3, 2023 |
| PCARE | 5 | May 3, 2023 |
| PCDH12 | 3 | May 3, 2023 |
| PCDH15 | 66 | Jan 27, 2023 |
| PCDH19 | 1 | Nov 21, 2018 |
| PCGF2 | 1 | Mar 6, 2019 |
| PCLO | 1 | Nov 21, 2018 |
| PCNT | 2 | May 3, 2023 |
| PCSK9 | 4 | Mar 9, 2020 |
| PDE11A | 1 | Mar 10, 2020 |
| PDE6A | 5 | Sep 29, 2021 |
| PDE6B | 17 | May 3, 2023 |
| PDE6B-AS1 | 4 | Sep 29, 2021 |
| PDE6C | 3 | May 3, 2023 |
| PDHX | 1 | Jan 27, 2023 |
| PDX1 | 6 | Mar 10, 2020 |
| PEX1 | 1 | May 3, 2023 |
| PEX10 | 1 | Mar 10, 2020 |
| PEX16 | 1 | Oct 3, 2019 |
| PEX5 | 2 | Jan 27, 2023 |
| PGAP3 | 1 | Nov 21, 2018 |
| PHF3 | 5 | Sep 29, 2021 |
| PHGDH | 2 | May 3, 2023 |
| PHIP | 1 | Dec 21, 2023 |
| PHKB | 1 | Mar 10, 2020 |
| PHOX2B | 1 | Mar 13, 2024 |
| PHYH | 3 | Sep 29, 2021 |
| PI4K2B | 1 | Dec 21, 2023 |
| PIBF1 | 1 | Jan 27, 2023 |
| PIEZO2 | 2 | Mar 13, 2024 |
| PKD1 | 3 | Oct 3, 2019 |
| PKD2 | 1 | Mar 10, 2020 |
| PKHD1 | 3 | May 3, 2023 |
| PKLR | 1 | Mar 10, 2020 |
| PKP2 | 1 | Jan 27, 2023 |
| PLA2G6 | 83 | Nov 27, 2024 |
| PLCB1 | 1 | Oct 3, 2019 |
| PLCB4 | 1 | Sep 26, 2018 |
| PLCE1 | 2 | Sep 11, 2023 |
| PLCE1-AS1 | 1 | Jan 27, 2023 |
| PLEC | 3 | May 3, 2023 |
| PLOD1 | 2 | May 3, 2023 |
| PLP1 | 1 | Mar 10, 2020 |
| PLUT | 4 | Mar 9, 2020 |
| PMM2 | 1 | Nov 21, 2018 |
| PMPCB | 1 | May 3, 2023 |
| PNKP | 2 | Nov 13, 2023 |
| PNPLA7 | 2 | Nov 17, 2020 |
| PNPT1 | 4 | Nov 27, 2024 |
| POC1B | 1 | Jun 27, 2018 |
| POGZ | 2 | Jan 27, 2023 |
| POLG2 | 1 | Mar 10, 2020 |
| POLR3A | 73 | Jan 25, 2024 |
| POLR3B | 39 | Nov 27, 2024 |
| POLR3H | 1 | Sep 11, 2023 |
| POMGNT1 | 57 | Jan 27, 2023 |
| POMK | 2 | Oct 3, 2019 |
| POMT1 | 3 | May 3, 2023 |
| POMT2 | 4 | May 3, 2023 |
| POPDC1 | 1 | May 29, 2020 |
| PORCN | 1 | Oct 3, 2019 |
| PPARG | 2 | Mar 9, 2020 |
| PPP2R1A | 1 | May 22, 2024 |
| PPP2R5C | 1 | Jun 20, 2024 |
| PPT1 | 5 | Jan 27, 2023 |
| PQBP1 | 1 | May 3, 2023 |
| PRDM16 | 1 | Mar 10, 2020 |
| PRDM2 | 1 | Mar 10, 2020 |
| PRF1 | 1 | Mar 10, 2020 |
| PRKAG2 | 1 | Mar 10, 2020 |
| PRKN | 2 | Mar 10, 2020 |
| PROM1 | 5 | May 3, 2023 |
| PROS1 | 1 | Mar 10, 2020 |
| PRPF3 | 1 | Sep 29, 2021 |
| PRPF31 | 13 | Sep 11, 2023 |
| PRPF31-AS1 | 4 | Sep 29, 2021 |
| PRPF8 | 4 | Sep 29, 2021 |
| PRPH2 | 1 | Sep 29, 2021 |
| PRPS1 | 1 | Nov 21, 2018 |
| PRUNE1 | 2 | Sep 11, 2023 |
| PSAP | 4 | Nov 27, 2024 |
| PTCD1 | 1 | Mar 10, 2020 |
| PTEN | 1 | Jan 27, 2023 |
| PTPN11 | 3 | Mar 13, 2024 |
| PTRH2 | 1 | Jan 27, 2023 |
| PURA | 1 | May 3, 2023 |
| PYCR2 | 1 | Jun 27, 2018 |
| PYROXD1 | 3 | May 3, 2023 |
| PYROXD2 | 1 | May 3, 2023 |
| QRICH1 | 1 | Dec 21, 2023 |
| RAB3GAP1 | 4 | Sep 11, 2023 |
| RAB3GAP2 | 2 | Jan 27, 2023 |
| RAB5C | 1 | Nov 27, 2024 |
| RAB9B | 1 | Mar 10, 2020 |
| RAD21 | 1 | Dec 13, 2024 |
| RAPSN | 3 | May 22, 2024 |
| RARS1 | 1 | Nov 21, 2018 |
| RASA1 | 1 | Mar 10, 2020 |
| RBFOX1 | 1 | Dec 13, 2024 |
| RBM8A | 1 | Oct 3, 2019 |
| RDH12 | 7 | May 29, 2020 |
| RELN | 1 | May 3, 2023 |
| RERE | 1 | Oct 3, 2019 |
| RGS9 | 1 | Sep 26, 2018 |
| RHAG | 1 | Mar 10, 2020 |
| RHO | 4 | Sep 29, 2021 |
| RIF1 | 6 | May 3, 2023 |
| RILP | 1 | Sep 29, 2021 |
| RIT1 | 1 | Oct 3, 2019 |
| RNASEH2B | 1 | Nov 21, 2018 |
| RNASET2 | 1 | Oct 3, 2019 |
| RNF14 | 3 | May 3, 2023 |
| RNU4ATAC | 3 | Dec 21, 2023 |
| RNU5B-1 | 1 | Nov 27, 2024 |
| ROR2 | 1 | Nov 27, 2024 |
| RORA | 1 | May 29, 2020 |
| RORA-AS1 | 1 | May 29, 2020 |
| RP1 | 6 | Sep 29, 2021 |
| RP1L1 | 1 | May 22, 2024 |
| RP2 | 1 | Mar 10, 2020 |
| RPE65 | 4 | Sep 29, 2021 |
| RPGR | 33 | Sep 11, 2023 |
| RPGRIP1 | 10 | Sep 11, 2023 |
| RPGRIP1L | 2 | Jan 27, 2023 |
| RPL11 | 1 | May 4, 2022 |
| RPL36A-HNRNPH2 | 29 | Aug 5, 2024 |
| RPS19 | 5 | May 22, 2024 |
| RPS26 | 3 | May 3, 2023 |
| RPS29 | 1 | Oct 3, 2019 |
| RPS7 | 2 | May 3, 2023 |
| RPSA | 1 | Jan 27, 2023 |
| RTN4IP1 | 1 | May 13, 2020 |
| RTTN | 2 | May 3, 2023 |
| RYR1 | 33 | Nov 27, 2024 |
| RYR2 | 3 | Mar 9, 2020 |
| SACS | 3 | Nov 13, 2023 |
| SALL1 | 1 | May 29, 2020 |
| SALL4 | 1 | Mar 13, 2024 |
| SAMD11 | 2 | Sep 29, 2021 |
| SAMD9L | 1 | Oct 3, 2019 |
| SAMHD1 | 1 | Oct 3, 2019 |
| SBDS | 3 | May 3, 2023 |
| SCAMP4 | 1 | Jun 27, 2018 |
| SCN1A | 3 | Mar 13, 2024 |
| SCN1A-AS1 | 2 | Mar 10, 2020 |
| SCN2A | 4 | Dec 13, 2024 |
| SCN4A | 4 | Nov 27, 2024 |
| SCN5A | 2 | Mar 9, 2020 |
| SCN9A | 2 | Mar 10, 2020 |
| SDCCAG8 | 2 | Sep 26, 2018 |
| SDHD | 1 | Mar 9, 2020 |
| SEC24A | 1 | Nov 27, 2024 |
| SELENON | 43 | Nov 9, 2023 |
| SEPSECS | 1 | Nov 21, 2018 |
| SERAC1 | 1 | May 3, 2023 |
| SERPINA10 | 1 | Mar 10, 2020 |
| SF3B1 | 1 | Jun 20, 2024 |
| SGCA | 6 | Sep 11, 2023 |
| SGCB | 3 | Oct 3, 2019 |
| SGCG | 5 | Sep 11, 2023 |
| SH3TC2 | 2 | May 3, 2023 |
| SHANK3 | 1 | Nov 21, 2018 |
| SHOC2 | 1 | Oct 3, 2019 |
| SIL1 | 1 | Mar 10, 2020 |
| SIRT6 | 2 | Dec 12, 2024 |
| SLC12A3 | 5 | May 3, 2023 |
| SLC12A5 | 1 | Mar 10, 2020 |
| SLC12A6 | 1 | Jan 27, 2023 |
| SLC13A5 | 16 | Sep 11, 2023 |
| SLC16A2 | 1 | Oct 3, 2019 |
| SLC18A3 | 1 | May 29, 2020 |
| SLC19A3 | 1 | Sep 26, 2018 |
| SLC1A4 | 1 | May 3, 2023 |
| SLC24A2 | 1 | Mar 10, 2020 |
| SLC25A12 | 1 | Sep 11, 2023 |
| SLC25A22 | 2 | May 3, 2023 |
| SLC25A4 | 1 | Sep 26, 2018 |
| SLC26A1 | 9 | Dec 11, 2023 |
| SLC26A2 | 2 | Mar 10, 2020 |
| SLC26A4 | 2 | Mar 10, 2020 |
| SLC2A1 | 2 | May 4, 2022 |
| SLC35C1 | 1 | Nov 21, 2018 |
| SLC39A14 | 1 | Nov 17, 2020 |
| SLC39A8 | 1 | Sep 26, 2018 |
| SLC45A1 | 2 | May 22, 2024 |
| SLC4A1 | 1 | Mar 10, 2020 |
| SLC5A7 | 1 | May 3, 2023 |
| SLC6A19 | 1 | May 3, 2023 |
| SLC6A5 | 1 | Mar 10, 2020 |
| SLC6A8 | 2 | May 3, 2023 |
| SMAD3 | 1 | Mar 9, 2020 |
| SMAD4 | 1 | Jul 1, 2017 |
| SMARCAL1 | 2 | Jul 1, 2017 |
| SMARCB1 | 1 | May 22, 2024 |
| SMC1A | 1 | May 3, 2023 |
| SMC3 | 1 | Nov 27, 2024 |
| SMG6 | 2 | Dec 12, 2024 |
| SMPD1 | 55 | Mar 9, 2020 |
| SMPD4 | 1 | May 29, 2020 |
| SNAP25 | 1 | Dec 12, 2024 |
| SNHG14 | 2 | Sep 11, 2023 |
| SNRNP200 | 3 | Sep 29, 2021 |
| SNX14 | 4 | May 3, 2023 |
| SON | 3 | May 3, 2023 |
| SOS1 | 1 | Mar 10, 2020 |
| SPAST | 1 | May 3, 2023 |
| SPATA22 | 2 | Oct 3, 2019 |
| SPEG | 3 | Jan 27, 2023 |
| SPG11 | 9 | Jan 27, 2023 |
| SPINK1 | 1 | Mar 10, 2020 |
| SPR | 1 | Sep 26, 2018 |
| SPTA1 | 1 | Oct 3, 2019 |
| SPTAN1 | 2 | Dec 12, 2024 |
| SPTB | 3 | Jan 27, 2023 |
| SPTBN2 | 1 | Jan 27, 2023 |
| SPTLC1 | 1 | Nov 17, 2020 |
| SQSTM1 | 1 | May 3, 2023 |
| SRCAP | 2 | Jan 27, 2023 |
| SRGAP1 | 2 | May 29, 2020 |
| SRPK2 | 6 | Feb 11, 2019 |
| SRPK3 | 1 | Dec 21, 2023 |
| STAC3 | 1 | Sep 26, 2018 |
| STIL | 1 | Jan 27, 2023 |
| STIM1 | 2 | May 22, 2024 |
| STK11 | 1 | Mar 9, 2020 |
| STXBP3 | 2 | Jun 20, 2024 |
| SURF1 | 1 | Sep 26, 2018 |
| SYNGAP1 | 2 | May 3, 2023 |
| SYNGAP1-AS1 | 2 | May 3, 2023 |
| SYNGR1 | 1 | Mar 10, 2020 |
| SYT1 | 1 | May 29, 2020 |
| SYT2 | 2 | Dec 13, 2024 |
| SZT2 | 2 | Oct 7, 2022 |
| TACO1 | 1 | Oct 3, 2019 |
| TAF1 | 1 | Sep 26, 2018 |
| TAMM41 | 2 | Nov 27, 2024 |
| TANGO2 | 11 | May 3, 2023 |
| TAOK1 | 1 | Sep 11, 2023 |
| TBC1D22A | 1 | Dec 12, 2024 |
| TBC1D23 | 1 | May 29, 2020 |
| TBC1D8B | 1 | May 29, 2020 |
| TBCD | 6 | May 3, 2023 |
| TBCK | 2 | Sep 11, 2023 |
| TBR1 | 1 | Jan 27, 2023 |
| TBX3 | 1 | Dec 21, 2023 |
| TBX4 | 1 | May 3, 2023 |
| TCAP | 2 | Mar 10, 2020 |
| TCF12 | 1 | Jan 27, 2023 |
| TCF4 | 4 | Nov 13, 2023 |
| TCF7L2 | 1 | Dec 21, 2023 |
| TCIRG1 | 1 | Jan 27, 2023 |
| TCTN1 | 2 | Sep 26, 2018 |
| TCTN2 | 1 | Jan 27, 2023 |
| TGM1 | 1 | Mar 10, 2020 |
| THOC2 | 1 | Sep 26, 2018 |
| TLK1 | 1 | Aug 31, 2023 |
| TLK2 | 2 | Aug 29, 2022 |
| TMEM106A | 1 | Nov 27, 2024 |
| TMEM184B | 1 | Nov 27, 2024 |
| TMEM231 | 1 | May 22, 2024 |
| TMEM237 | 2 | Sep 26, 2018 |
| TMEM240 | 1 | Jan 27, 2023 |
| TMEM67 | 9 | May 22, 2024 |
| TMEM94 | 1 | Jan 27, 2023 |
| TMPO | 1 | Mar 10, 2020 |
| TMPRSS6 | 8 | May 22, 2024 |
| TMX2-CTNND1 | 1 | Jan 27, 2023 |
| TNK2 | 1 | Mar 10, 2020 |
| TNNI3 | 1 | Oct 3, 2019 |
| TNNT1 | 2 | May 3, 2023 |
| TNNT2 | 1 | Oct 3, 2019 |
| TNNT3 | 1 | Nov 27, 2024 |
| TNPO3 | 1 | Nov 27, 2024 |
| TOGARAM1 | 2 | Mar 13, 2024 |
| TONSL | 2 | May 22, 2024 |
| TONSL-AS1 | 1 | May 22, 2024 |
| TOPORS | 1 | Sep 29, 2021 |
| TOR1A | 1 | May 3, 2023 |
| TOX | 1 | Jun 20, 2024 |
| TP53 | 1 | Jan 27, 2023 |
| TP63 | 1 | Jul 1, 2017 |
| TPM1 | 2 | Oct 3, 2019 |
| TPM2 | 1 | Dec 21, 2023 |
| TPM3 | 2 | May 3, 2023 |
| TPP1 | 3 | May 3, 2023 |
| TRAPPC11 | 2 | May 29, 2020 |
| TRAPPC2L | 1 | Nov 17, 2020 |
| TRAPPC4 | 1 | Nov 17, 2020 |
| TRAPPC9 | 4 | Dec 13, 2024 |
| TREX1 | 2 | May 3, 2023 |
| TRIM2 | 1 | May 3, 2023 |
| TRIM32 | 5 | Oct 3, 2019 |
| TRIM37 | 2 | Nov 17, 2020 |
| TRIP4 | 1 | May 29, 2020 |
| TRIT1 | 1 | May 4, 2022 |
| TRPM1 | 1 | Sep 26, 2018 |
| TRPM3 | 1 | Nov 17, 2020 |
| TRPV4 | 2 | Mar 13, 2024 |
| TRRAP | 1 | May 3, 2023 |
| TSC2 | 1 | Mar 9, 2020 |
| TSEN54 | 1 | Oct 3, 2019 |
| TSPAN1 | 53 | Jan 27, 2023 |
| TTC19 | 1 | Sep 11, 2023 |
| TTC21B | 3 | Mar 10, 2020 |
| TTC21B-AS1 | 1 | Jul 1, 2017 |
| TTC27 | 1 | Jun 20, 2024 |
| TTC36-AS1 | 1 | May 3, 2023 |
| TTN | 41 | Jan 9, 2025 |
| TTN-AS1 | 24 | Jan 9, 2025 |
| TUBA1A | 14 | May 22, 2024 |
| TUBA1B | 2 | Nov 27, 2024 |
| TUBA3E | 1 | Mar 13, 2024 |
| TUBA4A | 3 | Mar 13, 2024 |
| TUBA4B | 1 | Mar 13, 2024 |
| TUBA8 | 1 | Mar 13, 2024 |
| TUBB | 2 | Mar 13, 2024 |
| TUBB2A | 2 | May 22, 2024 |
| TUBB2B | 6 | May 22, 2024 |
| TUBB3 | 4 | Mar 13, 2024 |
| TUBB4A | 1 | Mar 13, 2024 |
| TUBB6 | 2 | Mar 13, 2024 |
| TUBD1 | 1 | Mar 13, 2024 |
| TUBG1 | 4 | May 22, 2024 |
| TUBGCP4 | 1 | May 3, 2023 |
| TULP1 | 8 | May 3, 2023 |
| TWIST1 | 1 | Mar 13, 2024 |
| UBA5 | 2 | Jun 27, 2018 |
| UBE2A | 1 | Sep 11, 2023 |
| UBE3A | 2 | Sep 11, 2023 |
| UBE3B | 1 | May 3, 2023 |
| UBE4A | 1 | Jan 27, 2023 |
| UBR5 | 1 | Jun 20, 2024 |
| UBTF | 1 | May 29, 2020 |
| UMOD | 1 | Jan 27, 2023 |
| UNC80 | 1 | Nov 21, 2018 |
| USH2A | 46 | Jan 9, 2025 |
| USH2A-AS1 | 3 | Sep 29, 2021 |
| USH2A-AS2 | 2 | Sep 29, 2021 |
| USP18 | 1 | May 3, 2023 |
| USP7 | 1 | Jan 27, 2023 |
| USP9X | 3 | May 3, 2023 |
| UTP4 | 1 | Mar 10, 2020 |
| VARS1 | 4 | May 22, 2024 |
| VDR | 1 | Sep 26, 2018 |
| VLDLR | 2 | Oct 3, 2019 |
| VPS11 | 2 | Nov 17, 2020 |
| VPS13B | 8 | May 3, 2023 |
| VPS13D | 2 | May 22, 2024 |
| VPS39 | 1 | Dec 21, 2023 |
| VRK1 | 2 | Jan 27, 2023 |
| VWA1 | 1 | Nov 27, 2024 |
| WARS2 | 2 | Jan 9, 2025 |
| WARS2-AS1 | 1 | Jan 9, 2025 |
| WBP4 | 1 | Dec 13, 2024 |
| WDR19 | 4 | May 22, 2024 |
| WDR36 | 1 | Mar 10, 2020 |
| WDR4 | 1 | May 29, 2020 |
| WDR45 | 1 | May 22, 2024 |
| WDR5 | 1 | Mar 13, 2024 |
| WDR62 | 2 | May 22, 2024 |
| WDR73 | 2 | May 22, 2024 |
| WDR74 | 1 | Nov 27, 2024 |
| WFS1 | 3 | Nov 9, 2023 |
| WT1 | 1 | May 3, 2023 |
| WWOX | 4 | Sep 11, 2023 |
| XDH | 1 | Mar 10, 2020 |
| XRN1 | 1 | Jun 20, 2024 |
| YARS1 | 2 | Jun 20, 2024 |
| YARS2 | 1 | Oct 3, 2019 |
| ZBTB18 | 9 | May 22, 2024 |
| ZBTB20 | 1 | May 22, 2024 |
| ZBTB34 | 1 | Jun 20, 2024 |
| ZC4H2 | 7 | Dec 13, 2024 |
| ZDHHC24 | 5 | May 4, 2022 |
| ZEB2 | 6 | Jan 27, 2023 |
| ZFHX3 | 1 | Dec 21, 2023 |
| ZFHX3-AS1 | 1 | Dec 21, 2023 |
| ZFYVE26 | 1 | May 29, 2020 |
| ZMIZ1 | 1 | Jan 27, 2023 |
| ZNF276 | 1 | May 3, 2023 |
| ZNF292 | 1 | May 3, 2023 |
| ZNF335 | 1 | May 3, 2023 |
| ZNF462 | 6 | Nov 27, 2024 |
| ZNF699 | 1 | Nov 17, 2020 |
| ZNF91 | 1 | Jun 20, 2024 |
| ZNHIT3 | 1 | May 29, 2020 |