GeneReviews (GeneReviews), GeneReviews
General information
Personnel
- Director: Margaret Adam
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 6328
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCB7 | 4 | Apr 4, 2014 |
| ABCC8 | 14 | Jan 8, 2013 |
| ABCD1 | 1 | Aug 10, 2022 |
| ACADS | 3 | Aug 13, 2014 |
| ACADVL | 2 | Aug 2, 2022 |
| ACD | 2 | Jun 16, 2016 |
| ACTA1 | 7 | Apr 30, 2013 |
| ACTB | 3 | Apr 4, 2022 |
| ACTG1 | 1 | Apr 4, 2022 |
| ACTG2 | 9 | Jun 29, 2021 |
| ADA2 | 7 | Sep 12, 2019 |
| ADAMTSL2 | 5 | Jan 8, 2013 |
| ADAMTSL4 | 3 | Oct 26, 2022 |
| ADAMTSL4-AS2 | 1 | Oct 26, 2022 |
| ADAR | 2 | Mar 13, 2014 |
| ADCY5 | 5 | Dec 17, 2015 |
| ADGRV1 | 2 | May 19, 2016 |
| ADNP | 5 | Sep 3, 2021 |
| AFG3L2 | 11 | Aug 16, 2022 |
| AGL | 10 | Jan 28, 2022 |
| AGPAT2 | 17 | Dec 8, 2016 |
| AGRN | 9 | Jul 14, 2016 |
| AGXT | 13 | Jul 24, 2014 |
| AHDC1 | 3 | Dec 10, 2021 |
| AIP | 67 | Mar 26, 2013 |
| AIPL1 | 7 | Apr 30, 2013 |
| AKT1 | 1 | Aug 1, 2022 |
| AKT3 | 3 | Aug 8, 2016 |
| ALAS2 | 3 | Mar 26, 2013 |
| ALDH7A1 | 3 | Aug 4, 2021 |
| ALDOB | 9 | Dec 2, 2021 |
| ALK | 6 | Jul 29, 2022 |
| ALPL | 8 | Feb 4, 2016 |
| ALS2 | 17 | Apr 30, 2013 |
| ALX4 | 1 | Jan 8, 2013 |
| AMT | 3 | Apr 30, 2013 |
| ANKRD11 | 1 | Dec 1, 2017 |
| ANO5 | 7 | Jan 8, 2013 |
| AOPEP | 2 | Jun 8, 2021 |
| APBB1 | 2 | Nov 23, 2021 |
| APC | 4 | May 25, 2021 |
| APOB | 3 | Dec 8, 2016 |
| APOE | 1 | Apr 7, 2014 |
| APP | 4 | Mar 26, 2013 |
| APRT | 6 | Jun 18, 2015 |
| AR | 6 | Jan 26, 2017 |
| ARID1B | 2 | Jul 17, 2019 |
| ARMS2 | 3 | Jan 8, 2013 |
| ARSA | 15 | Jul 29, 2022 |
| ARSL | 6 | Jan 8, 2013 |
| ASAH1 | 4 | Oct 6, 2021 |
| ASL | 3 | Mar 26, 2013 |
| ASPA | 7 | Jan 31, 2023 |
| ASPM | 101 | Mar 26, 2013 |
| ASS1 | 12 | Sep 1, 2016 |
| ATF6 | 2 | Apr 21, 2023 |
| ATL1 | 12 | Apr 30, 2013 |
| ATM | 21 | Oct 27, 2016 |
| ATN1 | 3 | Jan 8, 2013 |
| ATP1A2 | 5 | Jul 8, 2021 |
| ATP1A3 | 18 | Aug 9, 2022 |
| ATP6V0A2 | 11 | Apr 30, 2013 |
| ATP7A | 2 | Sep 22, 2021 |
| ATP7B | 3 | Jul 28, 2016 |
| ATP8B1 | 6 | Oct 27, 2021 |
| ATRIP | 17 | Mar 13, 2014 |
| ATRIP-TREX1 | 17 | Mar 13, 2014 |
| ATRX | 1 | Nov 6, 2014 |
| ATXN10 | 6 | Jan 8, 2013 |
| ATXN2 | 2 | Aug 22, 2019 |
| ATXN3 | 3 | Sep 28, 2015 |
| B3GLCT | 3 | Jan 8, 2013 |
| BAAT | 2 | Jan 8, 2013 |
| BAG3 | 1 | Jan 8, 2013 |
| BBIP1 | 1 | Feb 20, 2014 |
| BBS1 | 3 | Apr 30, 2013 |
| BBS4 | 16 | Apr 30, 2013 |
| BCKDHA | 1 | Apr 30, 2013 |
| BCKDHB | 3 | Apr 30, 2013 |
| BCOR | 1 | Oct 2, 2014 |
| BLM | 2 | Aug 22, 2019 |
| BRAF | 14 | Mar 3, 2016 |
| BRCA1 | 5 | Feb 17, 2022 |
| BRCA2 | 4 | Feb 17, 2022 |
| BSCL2 | 19 | Sep 22, 2022 |
| BTD | 5 | Jan 8, 2013 |
| C10orf105 | 1 | May 19, 2016 |
| C11orf65 | 10 | Oct 27, 2016 |
| C17orf107 | 3 | Jul 14, 2016 |
| C19orf12 | 3 | Nov 10, 2021 |
| C2orf88 | 3 | Apr 30, 2013 |
| C9orf72 | 2 | Nov 7, 2014 |
| CA5A | 4 | Aug 27, 2021 |
| CACNA1A | 8 | Jul 8, 2021 |
| CACNA1C | 8 | Dec 16, 2021 |
| CACNA1F | 1 | Mar 26, 2013 |
| CACNA1S | 8 | Nov 15, 2022 |
| CACNB2 | 1 | Sep 9, 2014 |
| CALM1 | 2 | Mar 6, 2014 |
| CAPN3 | 13 | Nov 16, 2021 |
| CARD14 | 1 | Oct 17, 2019 |
| CASP10 | 4 | Dec 13, 2021 |
| CASQ2 | 4 | Oct 13, 2016 |
| CATSPER1 | 2 | Jun 3, 2021 |
| CBS | 3 | Mar 15, 2022 |
| CCDC107 | 1 | Jan 8, 2013 |
| CCDC22 | 2 | Feb 7, 2020 |
| CCDC39 | 4 | Apr 30, 2013 |
| CCDC40 | 2 | Apr 30, 2013 |
| CCM2 | 2 | Aug 4, 2016 |
| CCND2 | 7 | Aug 8, 2016 |
| CD40LG | 2 | May 12, 2020 |
| CDAN1 | 3 | Aug 4, 2021 |
| CDC73 | 6 | Sep 21, 2022 |
| CDH23 | 5 | May 19, 2016 |
| CDH23-AS1 | 1 | May 19, 2016 |
| CDIN1 | 2 | Feb 20, 2014 |
| CDK13 | 5 | Jul 1, 2020 |
| CDK5RAP2 | 18 | Jan 8, 2013 |
| CDKN1C | 8 | Aug 6, 2021 |
| CEBPA | 9 | Nov 24, 2021 |
| CENPJ | 11 | Jan 8, 2013 |
| CENPT | 1 | Jan 25, 2023 |
| CEP290 | 3 | Feb 10, 2016 |
| CFH | 3 | Oct 19, 2021 |
| CFI | 1 | Apr 30, 2013 |
| CFL2 | 1 | Mar 26, 2013 |
| CFTR | 36 | May 21, 2021 |
| CFTR-AS1 | 9 | May 21, 2021 |
| CHAT | 1 | Jul 14, 2016 |
| CHCHD10 | 6 | Oct 20, 2021 |
| CHM | 5 | Dec 2, 2021 |
| CHMP2B | 7 | Apr 30, 2013 |
| CHPT1 | 3 | Apr 30, 2013 |
| CHRNA2 | 1 | Aug 15, 2022 |
| CHRNA4 | 3 | Aug 15, 2022 |
| CHRNE | 4 | Jul 14, 2016 |
| CIB2 | 2 | May 19, 2016 |
| CLCN1 | 14 | Nov 16, 2021 |
| CLCN2 | 39 | Nov 9, 2015 |
| CLCN5 | 26 | Jul 14, 2022 |
| CLCN7 | 5 | Mar 3, 2022 |
| CLN3 | 2 | Apr 30, 2013 |
| CLN5 | 2 | Apr 30, 2013 |
| CLN6 | 3 | Apr 30, 2013 |
| CLN8 | 1 | Apr 30, 2013 |
| CLPB | 20 | Sep 14, 2016 |
| CLPP | 3 | Jan 26, 2023 |
| CNGB3 | 2 | Apr 21, 2023 |
| COG4 | 2 | Apr 17, 2020 |
| COL1A1 | 2 | Nov 10, 2022 |
| COL2A1 | 5 | May 27, 2021 |
| COL4A1 | 11 | Jan 8, 2013 |
| COL4A5 | 3 | Mar 26, 2013 |
| COL5A1 | 2 | Nov 10, 2022 |
| COL6A1 | 3 | Mar 12, 2021 |
| COL6A2 | 2 | Mar 12, 2021 |
| COL6A3 | 2 | Mar 12, 2021 |
| COL7A1 | 7 | Aug 2, 2023 |
| COL9A1 | 1 | May 27, 2021 |
| COL9A2 | 1 | May 27, 2021 |
| COMP | 24 | Dec 22, 2022 |
| COQ2 | 9 | Jun 7, 2016 |
| COQ4 | 6 | Jun 7, 2016 |
| COQ6 | 7 | Jun 7, 2016 |
| COQ8A | 19 | Jun 7, 2016 |
| COQ8B | 11 | Jun 7, 2016 |
| COQ9 | 2 | Jun 7, 2016 |
| COX7B | 3 | Nov 8, 2022 |
| CP | 43 | Nov 16, 2015 |
| CPLANE1 | 8 | Aug 18, 2021 |
| CPT1A | 27 | Mar 29, 2022 |
| CPT2 | 23 | May 27, 2021 |
| CRB1 | 1 | Apr 30, 2013 |
| CRH | 3 | Aug 15, 2022 |
| CRLF1 | 6 | Aug 20, 2021 |
| CRX | 1 | Apr 30, 2013 |
| CRYAB | 3 | Jan 8, 2013 |
| CSF1R | 28 | May 27, 2022 |
| CSPP1 | 1 | Aug 18, 2021 |
| CSTB | 14 | Nov 25, 2014 |
| CTDP1 | 1 | Jan 8, 2013 |
| CTNNA3 | 2 | Oct 22, 2021 |
| CTNS | 16 | Oct 6, 2016 |
| CTNS-AS1 | 10 | Oct 6, 2016 |
| CTRC | 5 | May 29, 2014 |
| CYBA | 1 | Feb 11, 2016 |
| CYBB | 2 | Feb 11, 2016 |
| CYP1B1 | 2 | Mar 16, 2022 |
| CYP21A2 | 17 | Apr 30, 2013 |
| CYP27A1 | 55 | Mar 29, 2022 |
| CYP4V2 | 33 | Mar 26, 2013 |
| DARS2 | 3 | Dec 8, 2021 |
| DBH | 12 | Mar 14, 2022 |
| DBH-AS1 | 1 | Mar 14, 2022 |
| DCAF17 | 1 | Jul 16, 2021 |
| DCC | 13 | Jan 6, 2015 |
| DCN | 5 | Sep 27, 2023 |
| DCTN1 | 1 | Aug 6, 2021 |
| DDX11 | 1 | Jul 25, 2019 |
| DDX3X | 11 | Feb 22, 2022 |
| DDX41 | 10 | Nov 1, 2021 |
| DEPDC5 | 65 | Aug 17, 2022 |
| DES | 1 | Apr 30, 2013 |
| DHCR7 | 13 | Nov 14, 2019 |
| DKC1 | 38 | Jan 8, 2013 |
| DLD | 1 | Apr 7, 2014 |
| DLG1 | 1 | May 19, 2016 |
| DM1-AS | 2 | Dec 29, 2022 |
| DMPK | 1 | Apr 30, 2013 |
| DNAAF1 | 5 | Sep 22, 2015 |
| DNAAF11 | 6 | Sep 22, 2015 |
| DNAAF2 | 3 | Sep 22, 2015 |
| DNAAF5 | 1 | Apr 30, 2013 |
| DNAH1 | 1 | Sep 22, 2015 |
| DNAH11 | 1 | Apr 30, 2013 |
| DNAH5 | 3 | Sep 22, 2015 |
| DNAI1 | 2 | Sep 17, 2015 |
| DNAI2 | 1 | Apr 30, 2013 |
| DNAJC21 | 2 | Sep 21, 2023 |
| DNAJC6 | 9 | May 14, 2021 |
| DNAL1 | 2 | Sep 22, 2015 |
| DOK7 | 1 | Jul 14, 2016 |
| DUSP29 | 4 | Feb 7, 2020 |
| DVL1 | 8 | Feb 17, 2023 |
| DVL3 | 6 | Feb 17, 2023 |
| DYRK1A | 1 | Dec 24, 2015 |
| DYSF | 6 | Oct 20, 2021 |
| EBF3 | 8 | Jun 17, 2021 |
| ECHS1 | 2 | Sep 12, 2019 |
| ECM1 | 7 | Jul 25, 2021 |
| EDAR | 2 | Oct 13, 2021 |
| EDARADD | 3 | Oct 13, 2021 |
| EFEMP2 | 11 | Jan 8, 2013 |
| EFL1 | 2 | Sep 21, 2023 |
| EGR2 | 8 | Mar 26, 2013 |
| EHMT1 | 16 | May 7, 2015 |
| EIF2B2 | 1 | Oct 17, 2019 |
| EIF2B3 | 2 | Oct 17, 2019 |
| EIF2B5 | 7 | Oct 17, 2019 |
| ELANE | 5 | Dec 23, 2022 |
| ELOVL5 | 3 | Sep 12, 2019 |
| ELP1 | 2 | Nov 10, 2021 |
| ELP4 | 1 | Sep 22, 2023 |
| ENPP1 | 4 | Aug 22, 2014 |
| ENTPD5 | 7 | Jun 7, 2016 |
| EPB42 | 6 | May 29, 2014 |
| EPCAM | 1 | Jan 7, 2022 |
| EPM2A | 4 | Jun 30, 2022 |
| EPM2A-DT | 2 | Jan 22, 2015 |
| EPOR | 5 | Nov 14, 2016 |
| ERAL1 | 1 | Jan 26, 2023 |
| ERCC1 | 2 | Sep 26, 2016 |
| ERCC2 | 2 | Sep 26, 2016 |
| ESCO2 | 27 | Apr 2, 2020 |
| ETHE1 | 24 | Apr 5, 2017 |
| ETV6 | 1 | Jan 13, 2021 |
| EXOSC3 | 3 | Apr 28, 2014 |
| EZH2 | 4 | Dec 23, 2022 |
| F2 | 5 | Jan 12, 2022 |
| F5 | 3 | Jul 28, 2022 |
| F8 | 2 | Mar 26, 2013 |
| F9 | 2 | Jun 5, 2014 |
| FAH | 11 | Oct 21, 2021 |
| FAM111B | 9 | Oct 25, 2021 |
| FANCA | 4 | Jun 8, 2021 |
| FANCC | 6 | Jun 8, 2021 |
| FANCG | 4 | Jun 8, 2021 |
| FARS2 | 2 | Jan 24, 2019 |
| FASLG | 7 | Dec 13, 2021 |
| FBLN5 | 7 | Apr 28, 2023 |
| FBN2 | 2 | Dec 11, 2019 |
| FBXL3 | 1 | Apr 30, 2013 |
| FBXO45 | 1 | May 19, 2016 |
| FDFT1 | 1 | Apr 16, 2020 |
| FECH | 1 | Jan 8, 2013 |
| FERMT1 | 20 | Jan 28, 2022 |
| FGD4 | 6 | Jan 8, 2013 |
| FGF23 | 2 | Jun 26, 2017 |
| FGF3 | 12 | Jan 8, 2013 |
| FGFR1 | 9 | Feb 25, 2022 |
| FGFR2 | 4 | Jul 25, 2019 |
| FGFR3 | 23 | Mar 26, 2022 |
| FH | 5 | Aug 20, 2015 |
| FIG4 | 1 | Jan 8, 2013 |
| FKBP14 | 3 | Jul 25, 2019 |
| FKBP14-AS1 | 3 | Jul 25, 2019 |
| FLCN | 3 | Aug 13, 2014 |
| FLNA | 11 | Oct 13, 2021 |
| FLNB | 29 | Mar 26, 2013 |
| FLNB-AS1 | 1 | Mar 26, 2013 |
| FMO3 | 6 | Nov 3, 2015 |
| FN1 | 3 | May 29, 2020 |
| FOXL2 | 12 | Feb 5, 2015 |
| FOXP2 | 33 | May 25, 2021 |
| FTL | 7 | Jul 27, 2022 |
| G6PC1 | 7 | Aug 25, 2016 |
| G6PC3 | 6 | Jan 18, 2015 |
| GAA | 6 | Jul 26, 2021 |
| GALC | 12 | Sep 13, 2023 |
| GALE | 7 | Nov 10, 2021 |
| GALNS | 10 | Jul 28, 2021 |
| GALT | 14 | Apr 13, 2021 |
| GAMT | 5 | Mar 26, 2013 |
| GARS1 | 13 | Oct 4, 2023 |
| GATA1 | 12 | Sep 21, 2021 |
| GATM | 2 | Dec 10, 2015 |
| GBA1 | 23 | Oct 25, 2022 |
| GBE1 | 13 | Apr 30, 2013 |
| GCDH | 11 | Oct 17, 2019 |
| GCK | 6 | Apr 30, 2013 |
| GDAP1 | 9 | Jul 12, 2021 |
| GFAP | 110 | Mar 25, 2022 |
| GH-LCR | 18 | Nov 15, 2022 |
| GJB1 | 14 | Jan 8, 2013 |
| GJB2 | 31 | Dec 22, 2016 |
| GJB6 | 3 | Dec 22, 2016 |
| GJC2 | 2 | Jun 6, 2017 |
| GLA | 3 | Jan 5, 2017 |
| GLB1 | 6 | Sep 1, 2021 |
| GLDC | 3 | Apr 30, 2013 |
| GLI3 | 1 | Mar 26, 2013 |
| GLIS2 | 2 | Feb 10, 2016 |
| GLRA1 | 22 | Apr 30, 2013 |
| GLRB | 2 | Apr 30, 2013 |
| GNAL | 3 | Jul 13, 2018 |
| GNAS | 12 | Jan 25, 2017 |
| GNAT2 | 1 | Apr 21, 2023 |
| GNB1 | 9 | Jan 15, 2021 |
| GNB5 | 6 | Nov 2, 2021 |
| GNE | 13 | Jun 10, 2020 |
| GNPTAB | 125 | Apr 30, 2013 |
| GNPTG | 17 | Mar 26, 2013 |
| GPD1L | 2 | Sep 9, 2014 |
| GPHN | 2 | Apr 30, 2013 |
| GPR101 | 2 | Jun 16, 2017 |
| GRHPR | 4 | Jun 16, 2022 |
| GRIN2A | 5 | Mar 16, 2016 |
| GRN | 3 | Apr 16, 2020 |
| GUCY2D | 1 | Apr 30, 2013 |
| H1-4 | 17 | Jan 12, 2021 |
| HARS2 | 3 | Jan 26, 2023 |
| HBA1 | 7 | Dec 29, 2016 |
| HBA2 | 13 | Dec 29, 2016 |
| HBB | 47 | Apr 6, 2022 |
| HBZ | 1 | Dec 29, 2016 |
| HCCS | 3 | Nov 8, 2022 |
| HCFC1 | 6 | Jan 25, 2023 |
| HEPACAM | 4 | Aug 24, 2022 |
| HES7 | 1 | Jul 28, 2022 |
| HFE | 6 | Oct 31, 2023 |
| HFE-AS1 | 2 | Oct 31, 2023 |
| HGD | 11 | Aug 13, 2021 |
| HGSNAT | 4 | Oct 17, 2019 |
| HIGD2B | 1 | Apr 30, 2013 |
| HK1 | 1 | Aug 20, 2015 |
| HNRNPK | 3 | Apr 16, 2019 |
| HNRNPK-AS1 | 2 | Apr 16, 2019 |
| HNRNPUL2-BSCL2 | 19 | Sep 22, 2022 |
| HOGA1 | 2 | Jul 31, 2015 |
| HPDL | 1 | Oct 22, 2021 |
| HPS1 | 5 | Apr 7, 2022 |
| HPS3 | 2 | Nov 18, 2021 |
| HPS4 | 1 | Nov 18, 2021 |
| HPS6 | 1 | Nov 18, 2021 |
| HPSE2 | 2 | Oct 24, 2022 |
| HSD17B4 | 5 | Jan 26, 2023 |
| HTRA1 | 12 | Sep 23, 2014 |
| HTT | 4 | Nov 7, 2022 |
| HYCC1 | 4 | Jan 27, 2021 |
| IDS | 4 | Dec 4, 2019 |
| IDUA | 18 | Nov 19, 2021 |
| IFT122 | 6 | Apr 30, 2013 |
| IFT43 | 1 | Apr 30, 2013 |
| IKBKG | 1 | Jul 27, 2022 |
| IL2RG | 2 | Aug 9, 2021 |
| INS | 18 | Aug 7, 2017 |
| INS-IGF2 | 14 | Aug 7, 2017 |
| INSR | 2 | Mar 6, 2017 |
| INVS | 4 | Feb 10, 2016 |
| IQCB1 | 1 | Feb 10, 2016 |
| IRF6 | 6 | Dec 2, 2021 |
| ISCA1 | 2 | Nov 7, 2019 |
| ISCA2 | 3 | Nov 29, 2017 |
| ISCU | 2 | Mar 3, 2016 |
| ITGB4 | 1 | Jan 21, 2022 |
| ITPR1 | 1 | Jun 13, 2014 |
| JAG1 | 5 | Dec 18, 2019 |
| JUP | 3 | Oct 22, 2021 |
| KANSL1 | 6 | Jan 8, 2013 |
| KAT6B | 6 | Feb 7, 2020 |
| KCNA1 | 4 | Jun 25, 2015 |
| KCNJ11 | 27 | Jan 8, 2013 |
| KCNJ2 | 7 | Oct 17, 2022 |
| KCNJ5 | 2 | Oct 17, 2022 |
| KCNK9 | 2 | Dec 12, 2016 |
| KCNQ1 | 3 | Mar 17, 2022 |
| KCNQ2 | 177 | Mar 31, 2016 |
| KCNQ3 | 23 | Jan 20, 2022 |
| KCNQ4 | 9 | May 10, 2018 |
| KCNT1 | 4 | Aug 15, 2022 |
| KIAA0586 | 1 | Aug 18, 2021 |
| KIF1A | 2 | Apr 30, 2013 |
| KL | 1 | Jun 26, 2017 |
| KLF1 | 1 | Oct 17, 2019 |
| KMT2B | 2 | Feb 2, 2018 |
| KRAS | 5 | Feb 25, 2022 |
| KRIT1 | 2 | Aug 4, 2016 |
| KRT14 | 4 | Mar 26, 2013 |
| KRT17 | 1 | Jul 25, 2014 |
| KRT5 | 3 | Apr 30, 2013 |
| KRT6A | 5 | Jul 25, 2014 |
| LAMA2 | 5 | Jan 8, 2013 |
| LAMA3 | 2 | Apr 30, 2013 |
| LAMB3 | 4 | Mar 26, 2013 |
| LAMC2 | 1 | Mar 26, 2013 |
| LARS2 | 7 | Jan 26, 2023 |
| LARS2-AS1 | 4 | Jan 26, 2023 |
| LCA5 | 4 | Apr 30, 2013 |
| LDB3 | 1 | Mar 26, 2013 |
| LDLR | 2 | Dec 8, 2016 |
| LFNG | 1 | Jul 28, 2022 |
| LGI1 | 7 | Aug 27, 2015 |
| LIPA | 2 | Sep 1, 2016 |
| LITAF | 8 | Dec 18, 2014 |
| LIX1L-AS1 | 2 | Dec 8, 2016 |
| LMBRD1 | 1 | Jan 25, 2023 |
| LMNA | 27 | Oct 25, 2022 |
| LOC100287944 | 10 | Jul 22, 2021 |
| LOC101448202 | 1 | Nov 10, 2022 |
| LOC106029312 | 1 | Jan 8, 2013 |
| LOC106050102 | 2 | Dec 4, 2019 |
| LOC106099062 | 36 | Apr 6, 2022 |
| LOC106627981 | 21 | Oct 25, 2022 |
| LOC106780800 | 17 | Apr 30, 2013 |
| LOC106804612 | 8 | Dec 29, 2016 |
| LOC106804613 | 2 | Dec 29, 2016 |
| LOC107075317 | 4 | Dec 29, 2022 |
| LOC107133510 | 47 | Apr 6, 2022 |
| LOC107181287 | 6 | Jan 8, 2013 |
| LOC108660404 | 4 | Jan 8, 2013 |
| LOC108663987 | 2 | Sep 28, 2015 |
| LOC109029533 | 1 | Nov 25, 2014 |
| LOC109115964 | 4 | Jan 8, 2013 |
| LOC109461477 | 1 | Apr 30, 2013 |
| LOC109461479 | 4 | Nov 7, 2022 |
| LOC109461484 | 3 | Jan 8, 2013 |
| LOC109504725 | 3 | Jan 26, 2017 |
| LOC109504727 | 2 | Apr 2, 2014 |
| LOC109504728 | 2 | Nov 7, 2014 |
| LOC110006319 | 12 | Apr 6, 2022 |
| LOC110008580 | 1 | Apr 30, 2013 |
| LOC110121121 | 1 | Oct 20, 2021 |
| LOC110121486 | 1 | Mar 26, 2013 |
| LOC110631417 | 1 | Apr 30, 2013 |
| LOC110806263 | 4 | Jan 8, 2013 |
| LOC110806306 | 28 | Mar 26, 2013 |
| LOC111674475 | 7 | May 21, 2021 |
| LOC112543470 | 1 | Mar 26, 2013 |
| LOC112840921 | 1 | Apr 30, 2013 |
| LOC112997540 | 1 | Jun 7, 2016 |
| LOC113633877 | 1 | May 21, 2021 |
| LOC113687175 | 1 | Jan 8, 2013 |
| LOC117038795 | 3 | Nov 22, 2016 |
| LOC117125594 | 1 | Oct 17, 2019 |
| LOC123956210 | 1 | Nov 2, 2021 |
| LOC125446261 | 1 | Aug 24, 2022 |
| LOC126653391 | 1 | Sep 22, 2015 |
| LOC126805576 | 2 | Jul 14, 2016 |
| LOC126805851 | 3 | Dec 8, 2016 |
| LOC126805877 | 1 | Jan 8, 2015 |
| LOC126805916 | 3 | Oct 27, 2015 |
| LOC126806063 | 1 | Nov 1, 2022 |
| LOC126806068 | 1 | Mar 26, 2013 |
| LOC126806462 | 3 | Jun 2, 2017 |
| LOC126859565 | 2 | Jan 24, 2019 |
| LOC126859871 | 1 | Mar 26, 2013 |
| LOC126860075 | 1 | Nov 4, 2021 |
| LOC126860130 | 1 | Aug 27, 2015 |
| LOC126860498 | 1 | Feb 7, 2020 |
| LOC126860970 | 1 | Jul 22, 2021 |
| LOC126860971 | 4 | Jul 22, 2021 |
| LOC126861244 | 1 | Mar 29, 2022 |
| LOC126861258 | 4 | Sep 14, 2016 |
| LOC126861339 | 1 | Jan 8, 2013 |
| LOC126861525 | 1 | Mar 26, 2013 |
| LOC126861666 | 1 | Apr 30, 2013 |
| LOC126861897 | 3 | Jan 12, 2022 |
| LOC126862264 | 10 | Dec 15, 2016 |
| LOC126862526 | 1 | Jan 26, 2023 |
| LOC126862707 | 1 | Apr 30, 2013 |
| LOC126862860 | 1 | Oct 17, 2019 |
| LOC126863258 | 6 | Jul 14, 2022 |
| LOC126863275 | 1 | Aug 26, 2021 |
| LOC128706665 | 1 | Jan 8, 2013 |
| LOC128706666 | 1 | Jan 8, 2013 |
| LOC129391106 | 2 | Apr 30, 2013 |
| LOC129929027 | 4 | Nov 7, 2022 |
| LOC129929032 | 2 | Nov 7, 2014 |
| LOC129929040 | 1 | Apr 30, 2013 |
| LOC129929078 | 1 | Jul 14, 2016 |
| LOC129929114 | 1 | Feb 17, 2023 |
| LOC129930446 | 1 | Jan 25, 2023 |
| LOC129930561 | 1 | May 27, 2021 |
| LOC129931597 | 1 | Jan 8, 2013 |
| LOC129931648 | 1 | Jan 8, 2013 |
| LOC129933334 | 1 | Apr 30, 2013 |
| LOC129935184 | 1 | Jan 8, 2013 |
| LOC129935594 | 2 | Oct 17, 2019 |
| LOC129937552 | 1 | Apr 30, 2013 |
| LOC129993526 | 1 | Mar 26, 2013 |
| LOC129994460 | 1 | Jan 26, 2023 |
| LOC129997052 | 1 | Sep 22, 2015 |
| LOC129997381 | 2 | Jan 22, 2015 |
| LOC129998395 | 1 | Aug 4, 2016 |
| LOC129998833 | 1 | Jan 8, 2013 |
| LOC129999903 | 1 | Apr 16, 2020 |
| LOC130000523 | 1 | Aug 15, 2022 |
| LOC130000896 | 1 | Aug 23, 2021 |
| LOC130001967 | 1 | Nov 7, 2019 |
| LOC130002704 | 1 | Jun 7, 2016 |
| LOC130002772 | 1 | Nov 17, 2016 |
| LOC130004143 | 1 | Jul 22, 2021 |
| LOC130006204 | 1 | Mar 26, 2013 |
| LOC130006206 | 9 | Mar 26, 2013 |
| LOC130007700 | 1 | Jan 8, 2013 |
| LOC130009838 | 1 | Jul 28, 2016 |
| LOC130009913 | 1 | Apr 30, 2013 |
| LOC130055542 | 1 | Sep 17, 2015 |
| LOC130056217 | 1 | Sep 13, 2023 |
| LOC130056971 | 1 | Mar 26, 2013 |
| LOC130056973 | 1 | Mar 26, 2013 |
| LOC130057891 | 5 | Jul 28, 2022 |
| LOC130059762 | 1 | Jul 28, 2021 |
| LOC130060959 | 2 | Jan 18, 2015 |
| LOC130060994 | 21 | Mar 25, 2022 |
| LOC130062794 | 1 | Mar 28, 2016 |
| LOC130062945 | 1 | Jan 8, 2013 |
| LOC130063288 | 1 | Jan 26, 2023 |
| LOC130063295 | 3 | Apr 28, 2022 |
| LOC130064021 | 1 | Aug 20, 2021 |
| LOC130064510 | 1 | Nov 5, 2021 |
| LOC130064595 | 2 | Apr 5, 2017 |
| LOC130065308 | 2 | Apr 2, 2014 |
| LOC130066788 | 3 | Nov 25, 2014 |
| LOC130067862 | 34 | Jan 14, 2016 |
| LOC130067864 | 7 | Jan 14, 2016 |
| LOC130068886 | 1 | Jan 8, 2013 |
| LPIN2 | 6 | Mar 26, 2013 |
| LRP2 | 12 | Jan 8, 2013 |
| LRRK2 | 142 | Dec 11, 2014 |
| LYST | 41 | Nov 1, 2022 |
| LZTFL1 | 2 | Feb 20, 2014 |
| MAGEL2 | 2 | Dec 13, 2021 |
| MAN2B1 | 5 | Jan 8, 2013 |
| MAP2K1 | 5 | Mar 3, 2016 |
| MAP2K2 | 3 | Mar 3, 2016 |
| MATN3 | 16 | Apr 5, 2022 |
| MBD5 | 4 | Jul 21, 2016 |
| MCEE | 3 | Jan 7, 2016 |
| MCOLN1 | 10 | Jan 4, 2022 |
| MCPH1 | 7 | Mar 26, 2013 |
| MCPH1-AS1 | 2 | Jan 8, 2013 |
| MEA1 | 7 | Jul 15, 2020 |
| MECP2 | 8 | Oct 17, 2019 |
| MED12 | 51 | Aug 26, 2021 |
| MEFV | 16 | Dec 15, 2016 |
| MEN1 | 1 | Jul 19, 2022 |
| MESP2 | 10 | Jul 28, 2022 |
| MFSD8 | 2 | Apr 30, 2013 |
| MHRT | 4 | Jan 12, 2022 |
| MID1 | 3 | Aug 24, 2022 |
| MINK1 | 1 | Jul 14, 2016 |
| MIR103A2 | 1 | Nov 15, 2021 |
| MIR103B2 | 1 | Nov 15, 2021 |
| MIR4685 | 1 | Nov 18, 2021 |
| MKKS | 6 | Apr 30, 2013 |
| MKS1 | 1 | Aug 18, 2021 |
| MLC1 | 8 | Aug 24, 2022 |
| MLH1 | 23 | Jan 7, 2022 |
| MMAA | 15 | Dec 1, 2016 |
| MMAB | 11 | Jan 7, 2016 |
| MMACHC | 7 | Jan 25, 2023 |
| MMADHC | 7 | Dec 1, 2016 |
| MMUT | 31 | Dec 1, 2016 |
| MN1 | 3 | Jan 14, 2021 |
| MPV17 | 5 | Aug 26, 2022 |
| MPZ | 26 | Mar 26, 2015 |
| MSH2 | 12 | Jan 7, 2022 |
| MSH6 | 8 | Jan 7, 2022 |
| MSTN | 3 | Apr 30, 2013 |
| MSX2 | 1 | Jan 8, 2013 |
| MT-ATP6 | 11 | Dec 9, 2021 |
| MT-ATP8 | 1 | Dec 9, 2021 |
| MT-CO1 | 7 | Oct 13, 2023 |
| MT-CO2 | 1 | Dec 9, 2021 |
| MT-CO3 | 5 | Oct 13, 2023 |
| MT-CYB | 3 | Oct 13, 2023 |
| MT-ND1 | 20 | Oct 13, 2023 |
| MT-ND2 | 4 | Dec 9, 2021 |
| MT-ND3 | 6 | Dec 9, 2021 |
| MT-ND4 | 6 | Dec 9, 2021 |
| MT-ND4L | 2 | Dec 9, 2021 |
| MT-ND5 | 15 | Oct 13, 2023 |
| MT-ND6 | 14 | Oct 13, 2023 |
| MT-RNR1 | 4 | Jun 14, 2018 |
| MT-TA | 1 | Dec 9, 2021 |
| MT-TC | 1 | Dec 9, 2021 |
| MT-TD | 1 | Dec 9, 2021 |
| MT-TE | 1 | May 12, 2021 |
| MT-TF | 2 | Oct 13, 2023 |
| MT-TG | 1 | Dec 9, 2021 |
| MT-TH | 3 | Oct 13, 2023 |
| MT-TI | 1 | Dec 9, 2021 |
| MT-TK | 9 | Oct 13, 2023 |
| MT-TL1 | 7 | Oct 13, 2023 |
| MT-TL2 | 1 | Oct 13, 2023 |
| MT-TM | 1 | Dec 9, 2021 |
| MT-TN | 1 | Dec 9, 2021 |
| MT-TQ | 2 | Oct 13, 2023 |
| MT-TR | 1 | Dec 9, 2021 |
| MT-TS1 | 13 | Oct 13, 2023 |
| MT-TS2 | 2 | Oct 13, 2023 |
| MT-TV | 4 | Oct 13, 2023 |
| MT-TW | 5 | Oct 13, 2023 |
| MT-TY | 1 | Dec 9, 2021 |
| MTM1 | 2 | Dec 23, 2022 |
| MTMR2 | 1 | Jan 8, 2013 |
| MTR | 1 | Jan 25, 2023 |
| MTRR | 2 | Jan 25, 2023 |
| MTTP | 5 | Oct 6, 2021 |
| MUC1 | 1 | Oct 28, 2021 |
| MUS81 | 2 | Jan 8, 2013 |
| MUTYH | 11 | Oct 22, 2021 |
| MVP-DT | 5 | Nov 6, 2017 |
| MYCN | 6 | Nov 27, 2019 |
| MYCNOS | 1 | Nov 27, 2019 |
| MYH7 | 8 | Jan 12, 2022 |
| MYH9 | 14 | Dec 9, 2021 |
| MYO7A | 10 | May 19, 2016 |
| MYOT | 1 | Jan 8, 2013 |
| NAA10 | 1 | Oct 2, 2014 |
| NAGLU | 8 | Oct 17, 2019 |
| NBN | 13 | Feb 2, 2017 |
| NCF1 | 1 | Jan 8, 2013 |
| NCF4 | 2 | Feb 11, 2016 |
| NCF4-AS1 | 2 | Feb 11, 2016 |
| NDRG1 | 1 | Jan 8, 2013 |
| NDUFB11 | 2 | Nov 8, 2022 |
| NDUFS7 | 1 | Jan 8, 2013 |
| NEB | 1 | Apr 30, 2013 |
| NEFL | 7 | Dec 18, 2014 |
| NF1 | 6 | Jan 27, 2022 |
| NGLY1 | 3 | Aug 25, 2017 |
| NHLRC1 | 5 | Jun 30, 2022 |
| NHP2 | 3 | Jan 8, 2013 |
| NIPAL4 | 2 | Oct 15, 2021 |
| NKX6-2 | 8 | Aug 15, 2018 |
| NME8 | 2 | Apr 30, 2013 |
| NMNAT1 | 1 | Apr 30, 2013 |
| NOP10 | 1 | Jan 8, 2013 |
| NOP56 | 2 | Apr 2, 2014 |
| NOTCH3 | 9 | Aug 22, 2019 |
| NPC1 | 13 | Mar 26, 2013 |
| NPC2 | 10 | Jan 8, 2013 |
| NPHP1 | 2 | Feb 10, 2016 |
| NPHP3 | 2 | Feb 10, 2016 |
| NPHP3-ACAD11 | 2 | Feb 10, 2016 |
| NPHP4 | 2 | Feb 10, 2016 |
| NRAS | 4 | Feb 25, 2016 |
| NSDHL | 7 | Aug 21, 2023 |
| NSUN6 | 1 | Sep 9, 2014 |
| NTRK1 | 10 | Jul 21, 2022 |
| OCRL | 12 | Sep 25, 2014 |
| ODAD1 | 1 | Sep 22, 2015 |
| ODAD2 | 1 | Sep 22, 2015 |
| ODAD3 | 2 | Sep 22, 2015 |
| OFD1 | 2 | Aug 4, 2016 |
| OPA1 | 10 | Nov 13, 2015 |
| OPA1-AS1 | 1 | Apr 30, 2013 |
| OPA3 | 5 | Jul 22, 2022 |
| OTOF | 95 | Jul 30, 2015 |
| OTOP2 | 1 | May 19, 2016 |
| PAFAH1B1 | 2 | Dec 11, 2014 |
| PAH | 7 | Oct 20, 2016 |
| PAK2 | 1 | May 19, 2016 |
| PANK2 | 5 | Nov 15, 2021 |
| PAX2 | 3 | Nov 20, 2014 |
| PAX6 | 1 | Sep 22, 2023 |
| PCCA | 6 | Jan 8, 2013 |
| PCCB | 15 | Jan 8, 2013 |
| PCDH15 | 6 | May 19, 2016 |
| PCNT | 2 | Feb 8, 2022 |
| PCSK9 | 5 | Dec 8, 2016 |
| PDE6H | 1 | Apr 21, 2023 |
| PDGFRB | 2 | Apr 30, 2013 |
| PDSS1 | 3 | Jun 7, 2016 |
| PDSS2 | 2 | Jun 7, 2016 |
| PDX1 | 4 | Jul 28, 2016 |
| PEPD | 4 | Apr 6, 2015 |
| PEX1 | 2 | Jan 27, 2021 |
| PEX10 | 1 | Jan 27, 2021 |
| PEX6 | 1 | Jan 27, 2021 |
| PEX7 | 10 | Jan 8, 2013 |
| PHKA2 | 1 | Sep 13, 2023 |
| PHKB | 2 | Sep 13, 2023 |
| PIK3CA | 5 | Apr 30, 2013 |
| PIK3R1 | 7 | Apr 7, 2014 |
| PIK3R2 | 1 | Aug 8, 2016 |
| PINK1 | 2 | Sep 22, 2022 |
| PINK1-AS | 2 | Sep 22, 2022 |
| PKD1 | 1 | Nov 8, 2022 |
| PKD2L2-DT | 1 | Jan 8, 2013 |
| PLA2G6 | 1 | Jun 7, 2021 |
| PLEC | 1 | Apr 30, 2013 |
| PLOD1 | 2 | Aug 24, 2022 |
| PLP1 | 3 | Dec 26, 2019 |
| PLUT | 1 | Apr 30, 2013 |
| PMM2 | 12 | Nov 6, 2015 |
| PMP22 | 12 | Feb 25, 2022 |
| PMS2 | 6 | Jan 7, 2022 |
| PNKD | 3 | Oct 17, 2019 |
| PNPLA1 | 1 | Oct 15, 2021 |
| PNPLA6 | 6 | Aug 11, 2021 |
| POGZ | 4 | Oct 25, 2021 |
| POLG | 10 | Aug 3, 2022 |
| POLGARF | 10 | Aug 3, 2022 |
| POLH | 6 | Sep 26, 2016 |
| POLR1B | 3 | Aug 4, 2023 |
| POLR1C | 19 | Jul 22, 2021 |
| POLR1D | 1 | Aug 4, 2023 |
| POLR3A | 62 | Jul 22, 2021 |
| POLR3B | 52 | Jul 22, 2021 |
| POR | 2 | Nov 4, 2021 |
| POT1 | 3 | Jan 14, 2021 |
| PPOX | 1 | Jan 2, 2020 |
| PPP2R5D | 7 | Jul 15, 2020 |
| PPT1 | 2 | Apr 30, 2013 |
| PRDM16 | 1 | May 19, 2016 |
| PRF1 | 4 | Oct 6, 2021 |
| PRICKLE1 | 3 | Mar 26, 2013 |
| PRKAR1A | 6 | Dec 19, 2022 |
| PRKCG | 31 | May 17, 2020 |
| PRKN | 4 | Mar 26, 2013 |
| PRNP | 7 | Feb 22, 2021 |
| PROP1 | 5 | Apr 18, 2022 |
| PRPS1 | 12 | Nov 8, 2022 |
| PRRT2 | 5 | Nov 6, 2017 |
| PRSS1 | 5 | Jul 9, 2020 |
| PRX | 5 | Aug 20, 2015 |
| PSEN1 | 14 | Mar 26, 2013 |
| PSEN2 | 2 | Mar 26, 2013 |
| PTEN | 3 | Dec 16, 2021 |
| PTPN11 | 12 | Feb 25, 2016 |
| PURA | 5 | Jan 27, 2017 |
| PYGL | 19 | Mar 26, 2013 |
| PYGM | 13 | Jul 9, 2014 |
| RAB18 | 4 | Oct 31, 2017 |
| RAB3GAP1 | 10 | Oct 31, 2017 |
| RAB3GAP2 | 3 | Oct 31, 2017 |
| RAB9B | 3 | Dec 26, 2019 |
| RAD21 | 2 | Jan 28, 2016 |
| RAD51 | 4 | Jan 6, 2015 |
| RAF1 | 4 | Jan 8, 2013 |
| RANBP2 | 5 | Oct 13, 2021 |
| RAPSN | 3 | Jul 14, 2016 |
| RBM8A | 4 | Dec 8, 2016 |
| RD3 | 1 | Apr 30, 2013 |
| RDH12 | 1 | Apr 30, 2013 |
| RECQL4 | 13 | Aug 25, 2022 |
| RELN | 7 | Aug 27, 2015 |
| RFC1 | 5 | Jan 14, 2021 |
| RFC3 | 1 | Mar 2, 2016 |
| RIPPLY2 | 2 | Jul 28, 2022 |
| RIPPLY2-CYB5R4 | 2 | Jul 28, 2022 |
| RMND5B | 3 | Jan 8, 2013 |
| RMRP | 1 | Jan 8, 2013 |
| RNASEH2A | 11 | Nov 22, 2016 |
| RNF168 | 1 | May 19, 2016 |
| RNF17 | 2 | Jan 8, 2013 |
| RPGRIP1 | 2 | Apr 30, 2013 |
| RPGRIP1L | 3 | Aug 18, 2021 |
| RPL36A-HNRNPH2 | 3 | Jan 5, 2017 |
| RPS24 | 1 | Jul 22, 2021 |
| RPS7 | 1 | Apr 30, 2013 |
| RRM2B | 34 | Aug 23, 2021 |
| RSPH1 | 3 | Sep 22, 2015 |
| RSPH4A | 5 | Sep 22, 2015 |
| RTEL1 | 1 | Jun 16, 2016 |
| RTEL1-TNFRSF6B | 1 | Jun 16, 2016 |
| RUNX2 | 7 | Feb 3, 2022 |
| RYR1 | 66 | Apr 30, 2013 |
| RYR2 | 4 | Mar 26, 2013 |
| SACS | 4 | Feb 8, 2021 |
| SALL1 | 2 | Jan 14, 2016 |
| SALL4 | 5 | Apr 8, 2022 |
| SAMD9 | 4 | Jan 8, 2021 |
| SAMD9L | 4 | Mar 1, 2017 |
| SAMHD1 | 21 | Mar 13, 2014 |
| SAR1B | 2 | Mar 25, 2022 |
| SARM1 | 4 | Jul 14, 2021 |
| SATB2 | 13 | Jun 2, 2017 |
| SBDS | 9 | Sep 21, 2023 |
| SCARB2 | 20 | Mar 5, 2015 |
| SCN11A | 2 | Nov 9, 2017 |
| SCN1A | 1 | Jul 8, 2021 |
| SCN1A-AS1 | 10 | Mar 23, 2020 |
| SCN3A | 1 | Jun 8, 2021 |
| SCN3B | 1 | Sep 9, 2014 |
| SCN4A | 33 | Nov 15, 2022 |
| SCN5A | 4 | Sep 9, 2014 |
| SCN8A | 37 | Apr 28, 2022 |
| SCN9A | 16 | Mar 23, 2020 |
| SCO2 | 29 | Jan 14, 2016 |
| SDHAF2 | 2 | Aug 2, 2023 |
| SDHD | 6 | Jan 8, 2013 |
| SELENON | 1 | Apr 30, 2013 |
| SEPTIN9 | 3 | Jan 8, 2013 |
| SERPINA1 | 14 | Jan 22, 2016 |
| SERPINE1 | 4 | Apr 4, 2017 |
| SETD2 | 2 | Jan 28, 2022 |
| SETX | 2 | Nov 1, 2022 |
| SGCB | 1 | Nov 16, 2021 |
| SGPL1 | 1 | Jan 13, 2021 |
| SGSH | 6 | Oct 17, 2019 |
| SH3TC2 | 14 | Apr 12, 2021 |
| SHANK3 | 1 | Oct 18, 2022 |
| SHH | 32 | Apr 30, 2013 |
| SIX1 | 7 | Dec 29, 2022 |
| SIX3 | 7 | Apr 30, 2013 |
| SIX5 | 4 | Dec 29, 2022 |
| SLC12A5 | 11 | Aug 2, 2018 |
| SLC12A6 | 6 | Jun 13, 2014 |
| SLC16A2 | 8 | Apr 30, 2013 |
| SLC17A5 | 2 | Mar 9, 2020 |
| SLC20A2 | 2 | Apr 30, 2013 |
| SLC25A13 | 15 | Jun 28, 2022 |
| SLC25A15 | 8 | Jun 17, 2020 |
| SLC25A19 | 2 | Mar 16, 2022 |
| SLC26A1 | 5 | Nov 19, 2021 |
| SLC26A11 | 1 | Oct 17, 2019 |
| SLC26A2 | 10 | Apr 30, 2013 |
| SLC26A4 | 8 | Nov 2, 2021 |
| SLC26A5-AS1 | 2 | Aug 27, 2015 |
| SLC27A4 | 1 | Oct 15, 2021 |
| SLC2A1 | 7 | Aug 2, 2022 |
| SLC2A10 | 20 | Nov 13, 2014 |
| SLC30A10 | 14 | Feb 9, 2017 |
| SLC33A1 | 6 | Aug 21, 2019 |
| SLC37A4 | 3 | Aug 25, 2016 |
| SLC39A14 | 8 | Mar 13, 2017 |
| SLC40A1 | 2 | Sep 22, 2015 |
| SLC45A2 | 3 | Jan 21, 2022 |
| SLC46A1 | 8 | Jul 14, 2021 |
| SLC52A1 | 1 | Sep 29, 2015 |
| SLC52A2 | 11 | Nov 3, 2021 |
| SLC52A3 | 26 | Nov 3, 2021 |
| SLC6A5 | 10 | Apr 30, 2013 |
| SLC6A8 | 2 | Jan 8, 2013 |
| SLC6A9 | 3 | Sep 19, 2017 |
| SLC7A7 | 4 | Dec 11, 2019 |
| SLITRK1 | 2 | Jan 8, 2013 |
| SLITRK6 | 3 | Nov 24, 2014 |
| SMAD4 | 7 | Jan 31, 2017 |
| SMARCB1 | 2 | Aug 24, 2021 |
| SMARCC2 | 1 | Aug 24, 2021 |
| SMN2 | 1 | Jan 22, 2016 |
| SMPD1 | 11 | Nov 23, 2021 |
| SMS | 6 | Mar 5, 2020 |
| SOST | 11 | Mar 31, 2022 |
| SOX9 | 2 | Jan 8, 2013 |
| SP110 | 6 | Jan 12, 2017 |
| SP140 | 6 | Jan 12, 2017 |
| SPAG1 | 3 | Apr 13, 2016 |
| SPAST | 2 | Aug 26, 2019 |
| SPATA22 | 7 | Jan 31, 2023 |
| SPATA7 | 4 | Apr 30, 2013 |
| SPG11 | 97 | Mar 26, 2013 |
| SPG7 | 5 | Sep 11, 2023 |
| SPINK1 | 7 | May 29, 2014 |
| SPR | 1 | Apr 13, 2015 |
| SPRED1 | 4 | Mar 26, 2013 |
| SPTLC1 | 4 | Mar 26, 2013 |
| SRCAP | 2 | Jan 8, 2013 |
| SRP54 | 3 | Sep 21, 2023 |
| STAC3 | 5 | Sep 12, 2019 |
| STAT3 | 5 | Apr 3, 2020 |
| STIL | 9 | Jan 8, 2013 |
| STX11 | 1 | Nov 1, 2021 |
| STXBP1 | 10 | Sep 9, 2016 |
| STXBP2 | 4 | Oct 6, 2021 |
| SUCLA2 | 1 | Jan 8, 2013 |
| SUMF1 | 6 | Jan 3, 2019 |
| SUOX | 6 | Jun 27, 2017 |
| SYCE2 | 1 | Oct 17, 2019 |
| TAF1 | 1 | Jan 8, 2013 |
| TANGO2 | 1 | Feb 26, 2024 |
| TARDBP | 16 | Mar 12, 2015 |
| TBC1D24 | 6 | Mar 17, 2022 |
| TBX6 | 1 | Jul 28, 2022 |
| TCOF1 | 4 | Aug 4, 2023 |
| TEK | 2 | Jan 8, 2013 |
| TERC | 32 | Mar 26, 2013 |
| TERT | 38 | Jan 8, 2013 |
| TFAP2B | 10 | Jan 8, 2013 |
| TFR2 | 24 | Aug 15, 2022 |
| TGFB1 | 6 | Nov 5, 2021 |
| TGIF1 | 2 | Apr 30, 2013 |
| TGM1 | 2 | Oct 15, 2021 |
| TGM5 | 2 | Oct 13, 2016 |
| TH | 3 | Jul 22, 2021 |
| THAP11 | 1 | Jan 25, 2023 |
| THOC6 | 4 | Jan 15, 2021 |
| TIMM8A | 3 | Jan 8, 2013 |
| TINF2 | 17 | Jan 8, 2013 |
| TK2 | 7 | Nov 16, 2022 |
| TMEM216 | 1 | Aug 18, 2021 |
| TMEM237 | 1 | Apr 30, 2013 |
| TMEM43 | 1 | Oct 22, 2021 |
| TMEM67 | 4 | Feb 10, 2016 |
| TNNT1 | 1 | Mar 26, 2013 |
| TNXB | 3 | Apr 30, 2013 |
| TOR1A | 10 | Nov 17, 2016 |
| TPM2 | 1 | Apr 30, 2013 |
| TPM3 | 12 | Feb 25, 2015 |
| TPP1 | 2 | Apr 30, 2013 |
| TRAPPC2L | 1 | Jul 28, 2021 |
| TRB | 4 | Jul 9, 2020 |
| TREM2 | 6 | Mar 12, 2015 |
| TREX1 | 17 | Mar 13, 2014 |
| TRIO | 7 | Mar 27, 2017 |
| TRPS1 | 39 | Jan 24, 2017 |
| TRPV4 | 53 | Apr 7, 2014 |
| TSC2 | 7 | Nov 4, 2022 |
| TSEN2 | 1 | Jan 8, 2013 |
| TSEN34 | 1 | Jan 8, 2013 |
| TSEN54 | 4 | Jan 8, 2013 |
| TTBK2 | 3 | Mar 26, 2013 |
| TTC14 | 1 | Apr 30, 2013 |
| TTN | 18 | Jun 2, 2020 |
| TTN-AS1 | 18 | Jun 2, 2020 |
| TTPA | 16 | Oct 13, 2016 |
| TUBA1A | 4 | Dec 4, 2015 |
| TUBB2B | 1 | Dec 4, 2015 |
| TUBB3 | 11 | Aug 20, 2021 |
| TUBB4A | 32 | Apr 28, 2022 |
| TWNK | 13 | Jan 26, 2023 |
| TXNL4A | 12 | Mar 28, 2016 |
| TYMP | 78 | Jan 14, 2016 |
| TYR | 2 | Apr 30, 2013 |
| TYROBP | 3 | Mar 12, 2015 |
| UBA1 | 3 | Jan 8, 2013 |
| UMOD | 9 | Nov 2, 2021 |
| UNC13D | 5 | Oct 6, 2021 |
| UROD | 3 | Sep 8, 2016 |
| UROS | 10 | Sep 21, 2021 |
| USB1 | 23 | Jun 26, 2017 |
| USH1C | 7 | May 19, 2016 |
| USH1G | 4 | May 19, 2016 |
| USH2A | 5 | May 19, 2016 |
| USH2A-AS1 | 1 | May 19, 2016 |
| UTP23 | 1 | Jan 28, 2016 |
| VCAN | 11 | Jan 7, 2016 |
| VCAN-AS1 | 11 | Jan 7, 2016 |
| VLDLR | 3 | Jan 8, 2013 |
| VPS13B | 3 | Jul 21, 2016 |
| VPS35 | 13 | Apr 19, 2017 |
| VWF | 19 | May 9, 2022 |
| WAC | 2 | Oct 6, 2021 |
| WASHC5 | 5 | Feb 7, 2020 |
| WDR19 | 2 | Apr 30, 2013 |
| WDR35 | 1 | Apr 30, 2013 |
| WDR35-DT | 1 | Apr 30, 2013 |
| WFS1 | 1 | Jan 8, 2013 |
| WNK1 | 6 | Jul 9, 2021 |
| WNK4 | 8 | Feb 23, 2017 |
| WNT10A | 2 | Oct 13, 2021 |
| WNT5A | 4 | Oct 6, 2014 |
| WRAP53 | 4 | Mar 26, 2013 |
| WRN | 7 | May 27, 2021 |
| WT1 | 3 | Jan 22, 2021 |
| XK | 4 | Oct 22, 2021 |
| XPA | 3 | Sep 26, 2016 |
| XPC | 1 | Sep 26, 2016 |
| ZAP70 | 8 | Oct 19, 2021 |
| ZDHHC24 | 2 | Jan 8, 2013 |
| ZFYVE26 | 1 | Apr 30, 2013 |
| ZIC2 | 6 | Apr 30, 2013 |
| ZMYND10 | 1 | Sep 22, 2015 |
| ZNF143 | 2 | Jan 25, 2023 |
| ZRANB3 | 2 | Oct 31, 2017 |