Centre of Medical Genetics (University Hospital Muenster), IHG
General information
Centre of Medical Genetics, IHG
University Hospital Muenster
Vesaliusweg 12-14
Muenster
Nordrhein-Westfalen
Germany - 48149
https://www.ukm.de/kliniken/medizinische-genetik
Organization ID: 507439
University Hospital Muenster
Vesaliusweg 12-14
Muenster
Nordrhein-Westfalen
Germany - 48149
https://www.ukm.de/kliniken/medizinische-genetik
Organization ID: 507439
Personnel
- Christian Ruckert, Informatics staff
Phone: +492518353236
Email: Christian.Ruckert@ukmuenster.de - Isabell Schumann, Lab Director
Phone: +492518357480
Email: Isabell.Schumann@ukmuenster.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1091
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA3 | 2 | Jun 28, 2024 |
| ABCA4 | 8 | Oct 25, 2025 |
| ABCB11 | 2 | Nov 29, 2024 |
| ABCB4 | 1 | Feb 21, 2023 |
| ABCC6 | 2 | Jun 28, 2024 |
| ABCC8 | 2 | Nov 29, 2024 |
| ABCC9 | 1 | Feb 21, 2023 |
| ABHD12 | 1 | Nov 29, 2024 |
| ABHD14A-ACY1 | 2 | Jun 14, 2022 |
| ACAD9 | 1 | Jun 28, 2024 |
| ACADM | 4 | Jun 28, 2024 |
| ACADVL | 3 | Jun 28, 2024 |
| ACAN | 4 | Oct 25, 2025 |
| ACP5 | 1 | Oct 4, 2022 |
| ACSL4 | 1 | Mar 30, 2022 |
| ACTA2 | 1 | Aug 16, 2022 |
| ACTB | 1 | Jun 28, 2024 |
| ACVRL1 | 1 | Jun 28, 2024 |
| ACY1 | 2 | Jun 14, 2022 |
| ADA2 | 1 | Jun 28, 2024 |
| ADAMTS13 | 3 | Jun 28, 2024 |
| ADCY5 | 1 | Feb 21, 2023 |
| ADNP | 1 | Mar 19, 2024 |
| AFF3 | 1 | Nov 29, 2024 |
| AHDC1 | 1 | Oct 4, 2022 |
| AHI1 | 4 | May 22, 2023 |
| AKT1 | 1 | Jun 28, 2024 |
| ALAS2 | 1 | Jun 28, 2024 |
| ALDH5A1 | 2 | Mar 19, 2024 |
| ALDH7A1 | 2 | Jun 28, 2024 |
| ALG14 | 2 | Jun 28, 2024 |
| ALG14-AS1 | 1 | Jun 28, 2024 |
| ALOX12B | 1 | Nov 29, 2024 |
| ALPL | 2 | Jun 28, 2024 |
| ANKRD11 | 4 | Jun 28, 2024 |
| ANKRD17 | 1 | Oct 25, 2025 |
| ANO5 | 1 | Nov 29, 2024 |
| ANOS1 | 2 | Jun 28, 2024 |
| AP1G1 | 1 | Jun 28, 2024 |
| AP2M1 | 1 | Oct 25, 2025 |
| APOB | 3 | Jun 28, 2024 |
| AR | 3 | Nov 29, 2024 |
| ARCN1 | 1 | Feb 21, 2023 |
| ARF3 | 1 | Mar 19, 2024 |
| ARFGEF1 | 1 | Feb 21, 2023 |
| ARFGEF1-DT | 1 | Oct 4, 2022 |
| ARHGAP31 | 1 | May 22, 2023 |
| ARID1B | 2 | Jun 28, 2024 |
| ARID2 | 2 | Feb 21, 2023 |
| ARSA | 2 | Nov 29, 2024 |
| ARX | 1 | May 22, 2023 |
| ASH1L | 2 | May 22, 2023 |
| ASPA | 1 | Oct 4, 2022 |
| ASPM | 3 | Oct 4, 2022 |
| ASS1 | 3 | Jun 28, 2024 |
| ASXL3 | 2 | Oct 4, 2022 |
| ATIC | 2 | Jun 28, 2024 |
| ATL1 | 1 | Jun 28, 2024 |
| ATM | 4 | Nov 29, 2024 |
| ATP1A2 | 1 | Jun 28, 2024 |
| ATP1A3 | 1 | Feb 22, 2022 |
| ATP2B3 | 1 | May 22, 2023 |
| ATP7A | 1 | Oct 4, 2022 |
| ATP7B | 1 | Oct 4, 2022 |
| ATRX | 1 | Oct 4, 2022 |
| ATXN7 | 1 | Jun 14, 2022 |
| AUTS2 | 2 | Mar 19, 2024 |
| AVPR2 | 1 | Nov 29, 2024 |
| B3GAT3 | 1 | Feb 21, 2023 |
| BAG3 | 1 | Mar 19, 2024 |
| BAP1 | 1 | Mar 19, 2024 |
| BCKDHB | 1 | Oct 4, 2022 |
| BCL11B | 3 | Oct 4, 2022 |
| BCOR | 1 | Apr 14, 2022 |
| BCORL1 | 1 | Oct 4, 2022 |
| BEST1 | 2 | Oct 4, 2022 |
| BICC1 | 1 | Oct 4, 2022 |
| BLOC1S1-RDH5 | 1 | Nov 29, 2024 |
| BPTF | 1 | Mar 19, 2024 |
| BRPF1 | 1 | Oct 25, 2025 |
| BRSK2 | 1 | Feb 21, 2023 |
| BSCL2 | 1 | May 22, 2023 |
| BSND | 1 | Mar 30, 2022 |
| BTD | 2 | Apr 14, 2022 |
| C11orf65 | 1 | Nov 29, 2024 |
| C1R | 1 | Jun 28, 2024 |
| C1S | 1 | Oct 4, 2022 |
| CACNA1A | 1 | Feb 21, 2023 |
| CACNA1E | 2 | May 22, 2023 |
| CACNA1F | 1 | Oct 25, 2025 |
| CACNA1H | 1 | Oct 4, 2022 |
| CAPN3 | 3 | Oct 25, 2025 |
| CASR | 2 | Nov 29, 2024 |
| CAVIN1 | 1 | Feb 21, 2023 |
| CBL | 8 | Jun 28, 2024 |
| CBS | 3 | Feb 21, 2023 |
| CC2D2A | 1 | May 4, 2022 |
| CCDC174 | 2 | Oct 25, 2025 |
| CCDC40 | 2 | Feb 21, 2023 |
| CD36 | 2 | Jun 28, 2024 |
| CDC42BPB | 4 | Mar 19, 2024 |
| CDHR1 | 1 | Mar 30, 2022 |
| CDK13 | 1 | Jun 14, 2022 |
| CDK5RAP2 | 2 | Jun 28, 2024 |
| CEP290 | 3 | Oct 25, 2025 |
| CERKL | 1 | Nov 29, 2024 |
| CFTR | 3 | Oct 4, 2022 |
| CHAMP1 | 1 | Feb 21, 2023 |
| CHAT | 2 | Nov 29, 2024 |
| CHD1 | 1 | Nov 29, 2024 |
| CHD2 | 1 | Jun 28, 2024 |
| CHD3 | 2 | Jun 28, 2024 |
| CHD4 | 1 | Mar 30, 2022 |
| CHD4-AS1 | 1 | Mar 30, 2022 |
| CHD5 | 2 | Nov 29, 2024 |
| CHD7 | 3 | Jun 28, 2024 |
| CHD8 | 1 | Feb 21, 2023 |
| CHM | 1 | Mar 30, 2022 |
| CHRNB1 | 1 | Nov 29, 2024 |
| CHST6 | 1 | Oct 25, 2025 |
| CIC | 4 | May 22, 2023 |
| CIT | 1 | Feb 21, 2023 |
| CLCN6 | 1 | Oct 4, 2022 |
| CLIC2 | 1 | Mar 30, 2022 |
| CNGB1 | 2 | Oct 25, 2025 |
| CNOT1 | 2 | May 22, 2023 |
| CNOT3 | 1 | Jun 28, 2024 |
| CNTNAP1 | 1 | Aug 16, 2022 |
| COL10A1 | 1 | Feb 21, 2023 |
| COL11A2 | 1 | Oct 4, 2022 |
| COL1A1 | 11 | Oct 25, 2025 |
| COL1A2 | 4 | Jun 28, 2024 |
| COL2A1 | 4 | Oct 25, 2025 |
| COL3A1 | 4 | Oct 4, 2022 |
| COL4A1 | 1 | Aug 16, 2022 |
| COL4A2 | 4 | Jun 28, 2024 |
| COL4A2-AS1 | 1 | Apr 14, 2022 |
| COL4A4 | 1 | Feb 21, 2023 |
| COL4A5 | 2 | Jun 28, 2024 |
| COL5A1 | 2 | Jun 28, 2024 |
| COL7A1 | 2 | Oct 25, 2025 |
| COL9A1 | 1 | Oct 25, 2025 |
| COMP | 1 | Aug 16, 2022 |
| COPA | 1 | Jun 28, 2024 |
| COQ8B | 1 | Jun 28, 2024 |
| CPA6 | 1 | Oct 4, 2022 |
| CPAMD8 | 1 | Oct 4, 2022 |
| CPLANE1 | 4 | Oct 4, 2022 |
| CPT1A | 2 | Mar 30, 2022 |
| CPT2 | 2 | Jun 28, 2024 |
| CRADD | 1 | Dec 29, 2021 |
| CREBBP | 3 | Oct 25, 2025 |
| CRX | 1 | Jun 28, 2024 |
| CSDE1 | 1 | Nov 29, 2024 |
| CSRP3 | 1 | May 22, 2023 |
| CTCF | 2 | Oct 25, 2025 |
| CTSC | 2 | Nov 29, 2024 |
| CTU2 | 2 | Oct 4, 2022 |
| CUBN | 4 | Oct 25, 2025 |
| CUX1 | 1 | Mar 19, 2024 |
| CYFIP2 | 2 | Jun 28, 2024 |
| CYP21A2 | 2 | Jun 28, 2024 |
| DARS2 | 1 | Jun 14, 2022 |
| DDX3X | 1 | Feb 24, 2023 |
| DEAF1 | 1 | Mar 19, 2024 |
| DEPDC5 | 2 | Oct 25, 2025 |
| DHCR7 | 2 | Mar 19, 2024 |
| DHX30 | 1 | Feb 21, 2023 |
| DIS3L2 | 1 | Mar 30, 2022 |
| DLL1 | 2 | Feb 21, 2023 |
| DMD | 8 | Nov 29, 2024 |
| DNA2 | 1 | Nov 29, 2024 |
| DNAH5 | 2 | Jun 28, 2024 |
| DNAI1 | 2 | Jun 28, 2024 |
| DNM1 | 1 | Oct 4, 2022 |
| DNM2 | 1 | Mar 30, 2022 |
| DNMT3A | 2 | Oct 4, 2022 |
| DOK7 | 1 | Nov 29, 2024 |
| DPY19L2 | 1 | Oct 25, 2025 |
| DRC4 | 1 | Oct 4, 2022 |
| DSP | 1 | Jun 28, 2024 |
| DUOX2 | 1 | Jun 28, 2024 |
| DVL1 | 1 | Oct 4, 2022 |
| DYNC1H1 | 3 | Oct 25, 2025 |
| EBF3 | 1 | Nov 29, 2024 |
| ECHS1 | 1 | Nov 29, 2024 |
| EDA | 4 | Oct 25, 2025 |
| EEF1A2 | 1 | Jan 8, 2022 |
| EHMT1 | 1 | Nov 29, 2024 |
| EIF1AX | 1 | Jun 28, 2024 |
| EIF2B1 | 2 | Aug 12, 2026 |
| ELN | 1 | Jun 28, 2024 |
| ENAM | 1 | Oct 25, 2025 |
| ENG | 4 | Oct 25, 2025 |
| EP300 | 1 | Oct 4, 2022 |
| EPHB4 | 2 | Jun 28, 2024 |
| EXOSC3 | 1 | Apr 14, 2022 |
| F13A1 | 1 | Feb 21, 2023 |
| F7 | 1 | Feb 21, 2023 |
| F8 | 2 | Mar 19, 2024 |
| F9 | 1 | Feb 22, 2022 |
| FAH | 1 | May 22, 2023 |
| FAM111A | 1 | Jun 28, 2024 |
| FBN1 | 16 | Nov 29, 2024 |
| FBP1 | 1 | Nov 29, 2024 |
| FBXL5 | 1 | May 4, 2022 |
| FBXO11 | 1 | Oct 4, 2022 |
| FECH | 3 | Jun 28, 2024 |
| FGA | 4 | Jun 28, 2024 |
| FGB | 3 | Jun 28, 2024 |
| FGF23 | 1 | Jun 28, 2024 |
| FGFR1 | 4 | Jun 28, 2024 |
| FGFR2 | 2 | Feb 21, 2023 |
| FGFR3 | 1 | Nov 29, 2024 |
| FGG | 1 | Jun 28, 2024 |
| FH | 1 | Feb 21, 2023 |
| FIG4 | 1 | Oct 4, 2022 |
| FKRP | 1 | Mar 30, 2022 |
| FLCN | 1 | May 22, 2023 |
| FLNA | 4 | Jun 28, 2024 |
| FLNC | 1 | Jun 28, 2024 |
| FLRT3 | 1 | Oct 25, 2025 |
| FLVCR1 | 1 | Nov 29, 2024 |
| FMR1 | 1 | Apr 14, 2022 |
| FN1 | 2 | Aug 16, 2022 |
| FOXF1 | 2 | Jun 28, 2024 |
| FOXL2 | 1 | Jun 28, 2024 |
| FOXP1 | 1 | Jun 14, 2022 |
| FOXP2 | 1 | Nov 29, 2024 |
| FRA10AC1 | 1 | Feb 21, 2023 |
| FTL | 1 | Oct 25, 2025 |
| G6PD | 2 | Jun 28, 2024 |
| GAA | 2 | Nov 29, 2024 |
| GABRB3 | 1 | Oct 25, 2025 |
| GABRG2 | 1 | Jun 14, 2022 |
| GALC | 2 | Mar 19, 2024 |
| GAN | 1 | Oct 4, 2022 |
| GARS1 | 1 | Nov 29, 2024 |
| GATAD2B | 3 | Oct 25, 2025 |
| GCDH | 1 | Oct 25, 2025 |
| GCK | 1 | Nov 29, 2024 |
| GJB1 | 1 | Feb 21, 2023 |
| GJB2 | 2 | May 4, 2022 |
| GJC2 | 1 | Oct 4, 2022 |
| GK | 2 | Jun 28, 2024 |
| GLA | 1 | Jun 28, 2024 |
| GLB1 | 1 | Nov 29, 2024 |
| GLI2 | 1 | Mar 30, 2022 |
| GNA11 | 1 | Feb 21, 2023 |
| GNAS | 2 | Oct 25, 2025 |
| GNB1 | 1 | Jun 28, 2024 |
| GNB4 | 2 | Nov 29, 2024 |
| GNRHR | 3 | Jun 28, 2024 |
| GPC4 | 1 | Aug 16, 2022 |
| GPHN | 1 | Jun 28, 2024 |
| GRIA3 | 1 | Oct 4, 2022 |
| GRIA4 | 3 | Jun 28, 2024 |
| GRIK2 | 2 | Feb 21, 2023 |
| GRIN1 | 2 | Oct 4, 2022 |
| GRIN2A | 3 | Sep 4, 2024 |
| GRIN2B | 1 | Mar 19, 2024 |
| GRIN2D | 5 | Nov 29, 2024 |
| GRM7 | 1 | Apr 14, 2022 |
| GUCA1A | 1 | Nov 29, 2024 |
| GUCA1ANB-GUCA1A | 1 | Nov 29, 2024 |
| HEXA | 1 | Jun 14, 2022 |
| HEXB | 2 | Nov 29, 2024 |
| HFE | 1 | Jun 28, 2024 |
| HFE-AS1 | 1 | Jun 28, 2024 |
| HGD | 2 | Jun 28, 2024 |
| HIVEP2 | 1 | Oct 4, 2022 |
| HK1 | 2 | Jun 28, 2024 |
| HNF1B | 1 | Nov 29, 2024 |
| HNF4A | 1 | Mar 30, 2022 |
| HNRNPDL | 1 | May 22, 2023 |
| HNRNPU | 1 | Oct 4, 2022 |
| HNRNPUL2-BSCL2 | 1 | May 22, 2023 |
| HPS4 | 2 | Jun 28, 2024 |
| HS6ST1 | 1 | Jun 28, 2024 |
| HSD17B3 | 1 | Feb 21, 2023 |
| HUWE1 | 1 | Feb 21, 2023 |
| IDS | 1 | Jun 28, 2024 |
| IDUA | 2 | Jun 28, 2024 |
| IFIH1 | 4 | Jun 28, 2024 |
| IGF1R | 1 | Nov 29, 2024 |
| IL1RAPL1 | 1 | Feb 21, 2023 |
| INSL6 | 1 | May 22, 2023 |
| INSR | 2 | May 22, 2023 |
| IQSEC2 | 1 | Oct 4, 2022 |
| IRAK1BP1 | 1 | Nov 29, 2024 |
| IRF2BPL | 1 | Feb 21, 2023 |
| ITPR1 | 1 | Nov 29, 2024 |
| JAG1 | 2 | Jun 28, 2024 |
| JAK2 | 1 | May 22, 2023 |
| JUP | 1 | Jun 28, 2024 |
| KANSL1 | 1 | Jun 14, 2022 |
| KARS1 | 1 | Mar 30, 2022 |
| KAT6A | 1 | Feb 21, 2023 |
| KAT6B | 1 | Oct 4, 2022 |
| KCNC1 | 1 | Feb 21, 2023 |
| KCNH2 | 1 | Jul 23, 2025 |
| KCNJ6 | 1 | May 22, 2023 |
| KCNJ6-AS1 | 1 | May 22, 2023 |
| KCNJ8-AS1 | 1 | Feb 21, 2023 |
| KCNMA1 | 2 | Feb 21, 2023 |
| KCNMA1-AS1 | 2 | Feb 21, 2023 |
| KCNQ2 | 4 | Nov 29, 2024 |
| KCNQ3 | 1 | Jun 28, 2024 |
| KCNQ5 | 2 | Nov 29, 2024 |
| KCNT1 | 1 | Jun 28, 2024 |
| KCNT2 | 1 | Nov 29, 2024 |
| KDF1 | 1 | Oct 25, 2025 |
| KDM1A | 1 | Oct 4, 2022 |
| KDM3B | 4 | Feb 21, 2023 |
| KDM4B | 1 | Feb 21, 2023 |
| KDM5C | 2 | Nov 29, 2024 |
| KDM6A | 2 | Jun 28, 2024 |
| KDM6B | 1 | Feb 21, 2023 |
| KIDINS220 | 1 | May 22, 2023 |
| KIF1A | 1 | Nov 29, 2024 |
| KIF22 | 1 | May 22, 2023 |
| KISS1R | 1 | Jun 28, 2024 |
| KLHL20 | 1 | Nov 29, 2024 |
| KMT2A | 4 | Nov 29, 2024 |
| KMT2B | 2 | Mar 19, 2024 |
| KMT2C | 4 | Jun 28, 2024 |
| KMT2D | 1 | Nov 29, 2024 |
| KMT2E | 3 | May 22, 2023 |
| KMT5B | 2 | May 22, 2023 |
| KRAS | 2 | Oct 4, 2022 |
| KRIT1 | 2 | Nov 29, 2024 |
| KRT10 | 1 | Nov 29, 2024 |
| KRT10-AS1 | 1 | Nov 29, 2024 |
| LAMA1 | 1 | Apr 14, 2022 |
| LDLR | 19 | Oct 25, 2025 |
| LDLR-AS1 | 1 | Oct 25, 2025 |
| LDLRAP1 | 1 | Jun 28, 2024 |
| LEMD3 | 1 | Nov 29, 2024 |
| LGR4 | 1 | Oct 25, 2025 |
| LHCGR | 1 | Jun 28, 2024 |
| LIPE | 1 | Feb 21, 2023 |
| LIPE-AS1 | 1 | Feb 21, 2023 |
| LMBRD2 | 1 | Nov 29, 2024 |
| LMNA | 2 | Apr 14, 2025 |
| LMNB2 | 1 | Mar 19, 2024 |
| LOC101930071 | 1 | Feb 21, 2023 |
| LOC102724058 | 1 | Feb 21, 2023 |
| LOC105369149 | 1 | Jun 14, 2022 |
| LOC106780800 | 2 | Jun 28, 2024 |
| LOC107303340 | 2 | Oct 25, 2025 |
| LOC111811965 | 1 | Oct 4, 2022 |
| LOC112533672 | 1 | Apr 14, 2022 |
| LOC121627832 | 1 | May 22, 2023 |
| LOC126807619 | 1 | Oct 4, 2022 |
| LOC126859690 | 2 | Aug 12, 2026 |
| LOC126859807 | 1 | Feb 21, 2023 |
| LOC126861244 | 1 | Mar 30, 2022 |
| LOC126861664 | 1 | Aug 12, 2026 |
| LOC126862559 | 1 | Nov 29, 2024 |
| LOC126862586 | 1 | Nov 29, 2024 |
| LOC126862987 | 1 | Nov 29, 2024 |
| LOC126863239 | 1 | Apr 14, 2022 |
| LOC129390143 | 1 | Oct 25, 2025 |
| LOC129930989 | 1 | Jun 28, 2024 |
| LOC129936056 | 1 | Oct 4, 2022 |
| LOC129995965 | 1 | Feb 21, 2023 |
| LOC130003980 | 1 | Jun 28, 2024 |
| LOC130005368 | 1 | Feb 21, 2023 |
| LOC130057104 | 1 | May 22, 2023 |
| LOC130060218 | 1 | Nov 29, 2024 |
| LOC130062555 | 1 | Mar 30, 2022 |
| LOC130064855 | 2 | Nov 29, 2024 |
| LONP1 | 1 | Feb 21, 2023 |
| LOX | 2 | Oct 25, 2025 |
| LRP5 | 1 | Feb 21, 2023 |
| LRP6 | 1 | Jun 28, 2024 |
| LZTR1 | 3 | Nov 29, 2024 |
| MACF1 | 2 | Oct 4, 2022 |
| MACROD2 | 1 | Oct 25, 2025 |
| MAN1B1 | 1 | Jun 28, 2024 |
| MAP3K1 | 1 | Feb 21, 2023 |
| MAPK8IP3 | 2 | Jun 28, 2024 |
| MARVELD2 | 1 | Feb 21, 2023 |
| MAT1A | 1 | Jun 28, 2024 |
| MC3R | 2 | Jun 28, 2024 |
| MC4R | 2 | Oct 25, 2025 |
| MCM9 | 1 | Nov 29, 2024 |
| MCPH1 | 2 | Oct 4, 2022 |
| MECP2 | 4 | Oct 25, 2025 |
| MED12 | 2 | Feb 21, 2023 |
| MED13 | 3 | May 22, 2023 |
| MED13L | 3 | May 22, 2023 |
| MED27 | 1 | Feb 21, 2023 |
| MEN1 | 1 | Apr 14, 2022 |
| MIR4733HG | 1 | Oct 4, 2022 |
| MIR555 | 1 | Feb 21, 2023 |
| MIR6886 | 1 | Jun 28, 2024 |
| MKRN3 | 1 | Oct 25, 2025 |
| MLH1 | 2 | Jun 28, 2024 |
| MMAA | 1 | Feb 21, 2023 |
| MMACHC | 1 | Nov 29, 2024 |
| MME | 1 | Nov 29, 2024 |
| MORC2 | 1 | Feb 21, 2023 |
| MSH6 | 1 | Oct 4, 2022 |
| MSX1 | 1 | Apr 14, 2022 |
| MT-TL1 | 1 | Oct 4, 2022 |
| MTHFR | 3 | Jun 28, 2024 |
| MTOR | 1 | May 22, 2023 |
| MUTYH | 1 | Jun 28, 2024 |
| MVP-DT | 1 | Jun 28, 2024 |
| MYBPC3 | 1 | Oct 4, 2022 |
| MYH11 | 6 | Jun 28, 2024 |
| MYH14 | 1 | Oct 4, 2022 |
| MYH7 | 4 | Oct 25, 2025 |
| MYLK | 1 | Mar 30, 2022 |
| MYLK2 | 1 | Jun 28, 2024 |
| MYO7A | 3 | Oct 25, 2025 |
| MYPN | 1 | Feb 21, 2023 |
| MYT1L | 3 | Oct 25, 2025 |
| NAA15 | 1 | Feb 21, 2023 |
| NAGLU | 1 | Oct 4, 2022 |
| NBEA | 2 | Jun 28, 2024 |
| NDE1 | 3 | Jun 28, 2024 |
| NDST1 | 1 | Feb 21, 2023 |
| NDUFS4 | 1 | Nov 29, 2024 |
| NEDD4L | 1 | Oct 4, 2022 |
| NF1 | 16 | Oct 25, 2025 |
| NF2 | 1 | Nov 29, 2024 |
| NFIB | 1 | Feb 21, 2023 |
| NIPA2 | 1 | Feb 21, 2023 |
| NIPAL4-DT | 1 | Oct 4, 2022 |
| NIPBL | 1 | Oct 4, 2022 |
| NKX2-1 | 1 | Jun 28, 2024 |
| NLGN1 | 1 | Feb 21, 2023 |
| NLRP3 | 1 | Jun 28, 2024 |
| NONO | 1 | May 22, 2023 |
| NOTCH1 | 1 | Nov 29, 2024 |
| NOTCH2 | 1 | Jun 28, 2024 |
| NOTCH3 | 6 | Jun 28, 2024 |
| NPC1 | 1 | May 22, 2023 |
| NPHP1 | 1 | Mar 30, 2022 |
| NPHS2 | 1 | Jun 28, 2024 |
| NR5A1 | 1 | Jun 28, 2024 |
| NRAS | 1 | Oct 4, 2022 |
| NSD1 | 2 | Oct 4, 2022 |
| NT5DC1 | 1 | Feb 21, 2023 |
| NTRK2 | 1 | Oct 4, 2022 |
| NUP188 | 1 | Nov 29, 2024 |
| OCA2 | 1 | Mar 19, 2024 |
| OFD1 | 1 | Oct 25, 2025 |
| OPA1 | 5 | Nov 29, 2024 |
| OPLAH | 1 | Jun 28, 2024 |
| OTC | 1 | Jun 28, 2024 |
| OXCT1 | 1 | Jun 14, 2022 |
| PACS1 | 1 | May 22, 2023 |
| PACS2 | 1 | Oct 4, 2022 |
| PAFAH1B1 | 1 | Feb 21, 2023 |
| PAH | 5 | Jun 28, 2024 |
| PAK1 | 2 | Mar 19, 2024 |
| PAX3 | 1 | Oct 4, 2022 |
| PAX6 | 1 | Oct 25, 2025 |
| PAX7 | 1 | Jun 28, 2024 |
| PCDH19 | 1 | Jun 28, 2024 |
| PCNT | 2 | Oct 4, 2022 |
| PCSK9 | 1 | Jun 28, 2024 |
| PDE6B | 1 | Jun 28, 2024 |
| PDE6B-AS1 | 1 | Jun 28, 2024 |
| PDGFRB | 1 | May 22, 2023 |
| PDHA1 | 2 | Jun 28, 2024 |
| PGAP1 | 2 | Oct 4, 2022 |
| PHEX | 4 | Oct 25, 2025 |
| PHF21A | 1 | Nov 29, 2024 |
| PHIP | 3 | Nov 29, 2024 |
| PI4KA | 1 | Apr 14, 2022 |
| PIEZO1 | 1 | Jun 28, 2024 |
| PIGB | 1 | May 22, 2023 |
| PIGN | 1 | Oct 4, 2022 |
| PIK3CA | 1 | Oct 4, 2022 |
| PIK3CG | 2 | Feb 21, 2023 |
| PKD1 | 5 | Oct 25, 2025 |
| PKD1-AS1 | 1 | Oct 25, 2025 |
| PKHD1 | 13 | Aug 12, 2026 |
| PLCB4 | 1 | Mar 30, 2022 |
| PLVAP | 1 | May 22, 2023 |
| POGZ | 1 | Feb 21, 2023 |
| POLD1 | 1 | Feb 21, 2023 |
| POLG | 4 | Oct 25, 2025 |
| POLGARF | 4 | Oct 25, 2025 |
| POLR2A | 1 | May 22, 2023 |
| POMGNT1 | 1 | Feb 21, 2023 |
| POT1 | 1 | Mar 19, 2024 |
| POU3F3 | 1 | Mar 30, 2022 |
| PPP2R1A | 1 | Feb 21, 2023 |
| PPT1 | 1 | Jun 28, 2024 |
| PROK2 | 1 | Jun 28, 2024 |
| PROP1 | 1 | Jun 28, 2024 |
| PRPF31 | 1 | May 22, 2023 |
| PRPF31-AS1 | 1 | May 22, 2023 |
| PRPH2 | 1 | Oct 25, 2025 |
| PRRT2 | 1 | Jun 28, 2024 |
| PSMD12 | 1 | Mar 19, 2024 |
| PTCH1 | 2 | Jun 28, 2024 |
| PTCHD1-AS | 1 | Oct 4, 2022 |
| PTEN | 1 | Feb 21, 2023 |
| PTH1R | 2 | Jun 28, 2024 |
| PTPN11 | 7 | Oct 25, 2025 |
| QARS1 | 1 | Jun 28, 2024 |
| RAB23 | 1 | Oct 4, 2022 |
| RAB33B | 1 | Jun 28, 2024 |
| RAB3GAP2 | 1 | Dec 29, 2021 |
| RAF1 | 2 | Jun 28, 2024 |
| RAG1 | 2 | Oct 25, 2025 |
| RANBP2 | 1 | May 22, 2023 |
| RDH12 | 1 | Jun 28, 2024 |
| RDH5 | 1 | Nov 29, 2024 |
| REEP1 | 1 | Oct 25, 2025 |
| RELN | 2 | Feb 21, 2023 |
| RERE | 1 | Jun 28, 2024 |
| RET | 2 | Oct 25, 2025 |
| RHO | 1 | Jun 28, 2024 |
| RNF213 | 7 | Jun 28, 2024 |
| RNF213-AS1 | 5 | Jun 28, 2024 |
| RORA | 2 | Nov 29, 2024 |
| RORA-AS1 | 2 | Nov 29, 2024 |
| RP1 | 1 | Oct 4, 2022 |
| RP1L1 | 1 | Jun 28, 2024 |
| RPGR | 6 | Oct 25, 2025 |
| RPL36A-HNRNPH2 | 1 | Jun 28, 2024 |
| RPS28 | 1 | Jun 14, 2022 |
| RPS6KA3 | 1 | Nov 29, 2024 |
| RRAGC | 1 | Feb 21, 2023 |
| RRAS2 | 1 | Feb 21, 2023 |
| RTEL1 | 2 | Apr 14, 2022 |
| RTEL1-TNFRSF6B | 2 | Apr 14, 2022 |
| RTN4IP1 | 1 | Jun 28, 2024 |
| RYR1 | 3 | Nov 29, 2024 |
| SACS | 2 | Nov 29, 2024 |
| SAG | 1 | Nov 29, 2024 |
| SAMD9 | 3 | Jun 28, 2024 |
| SATB2 | 1 | Feb 21, 2023 |
| SBF1 | 1 | Feb 21, 2023 |
| SBF2 | 1 | Jun 14, 2022 |
| SBF2-AS1 | 1 | Jun 14, 2022 |
| SCN11A | 1 | Mar 30, 2022 |
| SCN1A | 3 | Nov 29, 2024 |
| SCN2A | 4 | Oct 25, 2025 |
| SCN4A | 1 | May 22, 2023 |
| SCN8A | 3 | Jun 28, 2024 |
| SCNN1B | 1 | Oct 4, 2022 |
| SDHA | 1 | Mar 30, 2022 |
| SEC23B | 3 | Nov 29, 2024 |
| SELENON | 2 | Mar 19, 2024 |
| SEMA3A | 1 | Feb 21, 2023 |
| SEMA6B | 1 | Oct 4, 2022 |
| SERPINA1 | 1 | Jun 28, 2024 |
| SERPINC1 | 2 | Jun 28, 2024 |
| SERPIND1 | 1 | Apr 14, 2022 |
| SERPINF1 | 1 | Feb 21, 2023 |
| SETBP1 | 4 | May 22, 2023 |
| SETD1A | 2 | Jun 28, 2024 |
| SETD1B | 1 | Oct 4, 2022 |
| SETD2 | 2 | Jun 28, 2024 |
| SETD5 | 4 | Oct 25, 2025 |
| SETX | 1 | Oct 4, 2022 |
| SF3B1 | 1 | Jun 28, 2024 |
| SFTA3 | 1 | Jun 28, 2024 |
| SGSH | 2 | Jun 28, 2024 |
| SHANK3 | 1 | Feb 21, 2023 |
| SIK1 | 1 | Jan 8, 2022 |
| SIN3A | 2 | Feb 21, 2023 |
| SKIC2 | 1 | Feb 21, 2023 |
| SKIC3 | 2 | Mar 30, 2022 |
| SLC12A1 | 3 | Oct 25, 2025 |
| SLC12A2 | 1 | Feb 21, 2023 |
| SLC22A5 | 1 | Jun 28, 2024 |
| SLC25A10 | 1 | Oct 4, 2022 |
| SLC26A1 | 1 | Jun 28, 2024 |
| SLC26A4 | 1 | Jun 28, 2024 |
| SLC2A10 | 2 | Feb 22, 2022 |
| SLC35D2-HSD17B3 | 1 | Feb 21, 2023 |
| SLC6A1 | 1 | Nov 29, 2024 |
| SLC9A7 | 1 | Feb 21, 2023 |
| SMAD2 | 1 | Oct 25, 2025 |
| SMAD3 | 1 | May 4, 2022 |
| SMARCA2 | 1 | Oct 4, 2022 |
| SMARCA4 | 2 | Jun 28, 2024 |
| SMARCAL1 | 3 | Jun 28, 2024 |
| SMARCD1 | 1 | Jun 28, 2024 |
| SNHG14 | 1 | Aug 16, 2022 |
| SON | 1 | Jun 28, 2024 |
| SOS1 | 5 | Nov 29, 2024 |
| SOS2 | 2 | Feb 21, 2023 |
| SOX4 | 1 | Feb 21, 2023 |
| SOX9 | 1 | Jun 28, 2024 |
| SPAG1 | 1 | Feb 21, 2023 |
| SPATA22 | 1 | Oct 4, 2022 |
| SPECC1L | 1 | Jun 28, 2024 |
| SPECC1L-ADORA2A | 1 | Jun 28, 2024 |
| SPEN | 2 | Oct 4, 2022 |
| SPG11 | 3 | Nov 29, 2024 |
| SPRED1 | 1 | Jun 28, 2024 |
| SPRY4 | 1 | Jun 28, 2024 |
| SPTB | 1 | Oct 4, 2022 |
| SPTBN1 | 2 | Mar 19, 2024 |
| SPTBN2 | 1 | Mar 19, 2024 |
| SPTBN5 | 2 | May 22, 2023 |
| SQSTM1 | 1 | Feb 21, 2023 |
| SRCAP | 2 | Mar 19, 2024 |
| SRD5A2 | 1 | Jun 28, 2024 |
| SRFBP1 | 2 | Oct 25, 2025 |
| STAG1 | 1 | Mar 19, 2024 |
| STAG2 | 1 | Oct 25, 2025 |
| STAG3 | 2 | Jun 28, 2024 |
| STAT3 | 2 | Oct 25, 2025 |
| STK11 | 2 | Jun 28, 2024 |
| STK36 | 2 | May 22, 2023 |
| STON1-GTF2A1L | 1 | Jun 28, 2024 |
| STT3A | 1 | Oct 25, 2025 |
| STX1B | 1 | Feb 21, 2023 |
| STXBP1 | 2 | Nov 29, 2024 |
| SUFU | 1 | Nov 29, 2024 |
| SUMF1 | 1 | Oct 4, 2022 |
| SUPT16H | 1 | Mar 19, 2024 |
| SURF1 | 3 | Feb 21, 2023 |
| SYN1 | 1 | Oct 4, 2022 |
| SYNE1 | 1 | Aug 16, 2022 |
| SYNGAP1 | 1 | Feb 21, 2023 |
| SYNGAP1-AS1 | 1 | Feb 21, 2023 |
| SZT2 | 2 | Nov 29, 2024 |
| TACR3 | 1 | Jun 28, 2024 |
| TAF1 | 1 | Feb 21, 2023 |
| TANC2 | 1 | May 22, 2023 |
| TAOK1 | 1 | Jun 28, 2024 |
| TARDBP | 1 | Oct 25, 2025 |
| TBCEL-TECTA | 1 | Jun 28, 2024 |
| TBR1 | 1 | Aug 16, 2022 |
| TBX19 | 1 | Oct 4, 2022 |
| TBX5 | 1 | Oct 25, 2025 |
| TCF20 | 3 | Feb 21, 2023 |
| TCF4 | 2 | Nov 29, 2024 |
| TCOF1 | 1 | Oct 25, 2025 |
| TCTN3 | 1 | Jun 28, 2024 |
| TECTA | 1 | Jun 28, 2024 |
| TET3 | 2 | Jun 28, 2024 |
| TFE3 | 1 | Apr 14, 2022 |
| TG | 1 | Jun 28, 2024 |
| TGFB3 | 2 | Oct 4, 2022 |
| TGFBR1 | 3 | Nov 29, 2024 |
| THBD | 1 | Nov 29, 2024 |
| THPO | 1 | Jun 28, 2024 |
| THRB | 1 | Oct 4, 2022 |
| TJP1 | 1 | Jun 28, 2024 |
| TLR3 | 1 | Jun 28, 2024 |
| TMEM70 | 1 | Feb 21, 2023 |
| TNFAIP3 | 2 | Mar 19, 2024 |
| TNNT2 | 1 | Mar 19, 2024 |
| TNXB | 1 | Feb 21, 2023 |
| TONSL | 1 | Jun 28, 2024 |
| TONSL-AS1 | 1 | Jun 28, 2024 |
| TP53 | 1 | Nov 29, 2024 |
| TPP1 | 1 | Feb 21, 2023 |
| TRIM63 | 1 | Jun 14, 2022 |
| TRIO | 2 | Oct 4, 2022 |
| TRIP11 | 1 | Feb 21, 2023 |
| TRIP12 | 2 | May 22, 2023 |
| TRPC6 | 1 | Mar 30, 2022 |
| TRPS1 | 1 | Oct 4, 2022 |
| TRRAP | 5 | May 22, 2023 |
| TSC1 | 3 | Jun 28, 2024 |
| TSC2 | 4 | Jun 28, 2024 |
| TSPAN1 | 1 | Feb 21, 2023 |
| TTC7A | 2 | Nov 29, 2024 |
| TUBB3 | 1 | Oct 4, 2022 |
| TULP1 | 1 | Jun 28, 2024 |
| TYR | 1 | Jun 28, 2024 |
| UBE3A | 1 | Aug 16, 2022 |
| UNC13D | 1 | Apr 14, 2022 |
| USH2A | 11 | Oct 25, 2025 |
| USH2A-AS1 | 3 | Jun 28, 2024 |
| USP14 | 1 | Oct 4, 2022 |
| USP9X | 1 | Oct 4, 2022 |
| VAMP2 | 1 | Nov 29, 2024 |
| VHL | 2 | Oct 25, 2025 |
| VPS13B | 1 | Oct 25, 2025 |
| VPS13D | 1 | May 22, 2023 |
| VWF | 2 | Jun 28, 2024 |
| WAC | 1 | Nov 29, 2024 |
| WARS1 | 1 | Oct 4, 2022 |
| WDFY3 | 1 | Feb 21, 2023 |
| WDR11 | 1 | Jun 28, 2024 |
| WFS1 | 1 | Nov 29, 2024 |
| WNK3 | 1 | Oct 25, 2025 |
| WNT1 | 1 | Jun 28, 2024 |
| WNT10A | 1 | Jun 28, 2024 |
| WT1 | 1 | Oct 4, 2022 |
| WWOX | 2 | Feb 21, 2023 |
| YWHAG | 1 | Apr 14, 2022 |
| ZBTB18 | 1 | Mar 30, 2022 |
| ZEB2 | 4 | Oct 25, 2025 |
| ZMIZ1 | 4 | Nov 29, 2024 |
| ZMPSTE24 | 1 | Feb 22, 2022 |
| ZMYM2 | 2 | May 22, 2023 |
| ZMYND11 | 3 | Nov 29, 2024 |
| ZNF292 | 2 | Feb 21, 2023 |