Clinical Genomics Laboratory (Washington University in St. Louis)
General information
Clinical Genomics Laboratory
Washington University in St. Louis
4320 Forest Park Avenue
CORTEX building, Suite 207
St.Louis
Missouri
United States - 63108
http://gps.wustl.edu/
Organization ID: 505219
Washington University in St. Louis
4320 Forest Park Avenue
CORTEX building, Suite 207
St.Louis
Missouri
United States - 63108
http://gps.wustl.edu/
Organization ID: 505219
Personnel
- Meagan Corliss, Genetic Counselor
Phone: 314-747-7337
Email: mcorliss@path.wustl.edu - Yang Cao, Lab Associate Director
Phone: 3142733225
Email: cao.yang@wustl.edu - Michelle Thompson, Variant scientist/curator
Phone: 410-972-6875
Email: michelle.t@wustl.edu - Jason Walker, Informatics staff
Phone: 3147477337
Email: jason.walker@wustl.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1899
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA12 | 3 | Sep 25, 2025 |
| ABCB4 | 3 | Sep 25, 2025 |
| ABCC8 | 4 | Sep 25, 2025 |
| ABL1 | 1 | Dec 12, 2023 |
| ABTB3 | 1 | Dec 12, 2023 |
| ACAD8 | 1 | Sep 25, 2025 |
| ACADSB | 1 | May 21, 2024 |
| ACADVL | 1 | Sep 25, 2025 |
| ACBD6 | 1 | May 21, 2024 |
| ACE | 3 | Jan 6, 2025 |
| ACSS2 | 1 | May 21, 2024 |
| ACTA2 | 1 | Jan 6, 2025 |
| ACTA2-AS1 | 1 | Jan 6, 2025 |
| ACTB | 5 | Sep 25, 2025 |
| ACTN4 | 1 | Jan 6, 2025 |
| ACVRL1 | 1 | Dec 12, 2023 |
| ADA2 | 1 | Dec 12, 2023 |
| ADAMTS10 | 2 | May 21, 2024 |
| ADAMTS13 | 8 | Sep 25, 2025 |
| ADAMTS19 | 1 | May 21, 2024 |
| ADAT3 | 1 | Sep 25, 2025 |
| ADCY5 | 1 | May 21, 2024 |
| ADCY6 | 2 | May 21, 2024 |
| ADGRB1 | 1 | May 21, 2024 |
| ADGRB2 | 1 | Jan 6, 2025 |
| ADGRL1 | 5 | Sep 25, 2025 |
| ADGRL1-AS1 | 4 | Sep 25, 2025 |
| AEBP1 | 1 | Feb 4, 2025 |
| AFF2 | 1 | Sep 25, 2025 |
| AGL | 1 | Sep 25, 2025 |
| AGRN | 2 | Sep 25, 2025 |
| AGTPBP1 | 4 | Feb 4, 2025 |
| AIRE | 2 | May 22, 2024 |
| AKAP9 | 2 | Sep 25, 2025 |
| AKT1 | 2 | Jan 6, 2025 |
| AKT2 | 2 | Sep 25, 2025 |
| ALDH5A1 | 1 | Sep 25, 2025 |
| ALDH7A1 | 1 | Sep 25, 2025 |
| ALG12 | 1 | Sep 25, 2025 |
| ALG14 | 1 | Jan 6, 2025 |
| ALMS1 | 5 | Sep 25, 2025 |
| ALOXE3 | 2 | Apr 21, 2025 |
| ALPL | 2 | Sep 25, 2025 |
| ANGPT1 | 1 | Sep 25, 2025 |
| ANK2 | 2 | Jan 6, 2025 |
| ANK3 | 3 | Jan 6, 2025 |
| ANKRD11 | 4 | Sep 25, 2025 |
| ANKRD17 | 3 | Sep 25, 2025 |
| ANKS1B | 1 | Jan 6, 2025 |
| ANLN | 1 | May 22, 2024 |
| AP1G1 | 1 | Sep 25, 2025 |
| APC | 3 | Sep 25, 2025 |
| APOB | 1 | Jan 6, 2025 |
| APOL1 | 2 | Dec 12, 2023 |
| APPL1 | 1 | Jan 6, 2025 |
| ARAF | 4 | Sep 25, 2025 |
| ARFGEF1 | 1 | May 21, 2024 |
| ARHGEF12 | 1 | May 21, 2024 |
| ARID1B | 1 | Jan 6, 2025 |
| ARX | 1 | Feb 4, 2025 |
| ASH1L | 2 | Sep 25, 2025 |
| ASIC2 | 1 | May 21, 2024 |
| ASXL3 | 1 | May 21, 2024 |
| ATG4D | 1 | May 21, 2024 |
| ATM | 2 | Sep 25, 2025 |
| ATP11A | 1 | May 21, 2024 |
| ATP13A3 | 1 | Jan 6, 2025 |
| ATP1A1 | 1 | Jan 6, 2025 |
| ATP1A2 | 2 | Sep 25, 2025 |
| ATP1A3 | 1 | Dec 12, 2023 |
| ATP2A2 | 3 | Jan 7, 2025 |
| ATP2C1 | 2 | Sep 25, 2025 |
| ATP6V1B2 | 1 | Dec 12, 2023 |
| ATP7A | 2 | Sep 25, 2025 |
| ATRX | 3 | Sep 25, 2025 |
| BAZ1A | 1 | Sep 25, 2025 |
| BAZ2B | 1 | Dec 12, 2023 |
| BBS1 | 1 | Sep 25, 2025 |
| BCL10 | 1 | Sep 25, 2025 |
| BCL11A | 1 | Dec 12, 2023 |
| BGN | 1 | Feb 4, 2025 |
| BICD2 | 1 | Feb 4, 2025 |
| BICRA | 2 | Sep 25, 2025 |
| BMP8B | 1 | May 21, 2024 |
| BNC2 | 1 | Dec 12, 2023 |
| BPTF | 1 | Feb 4, 2025 |
| BRAF | 9 | Sep 25, 2025 |
| BRCA1 | 6 | Sep 25, 2025 |
| BRCA2 | 5 | Sep 25, 2025 |
| BRPF1 | 3 | Sep 25, 2025 |
| BRWD3 | 1 | Sep 25, 2025 |
| BSN | 2 | May 21, 2024 |
| C3 | 2 | Sep 25, 2025 |
| C8B | 1 | Feb 4, 2025 |
| CA12 | 1 | Sep 25, 2025 |
| CACNA1A | 4 | Jan 6, 2025 |
| CACNA1C | 2 | Jan 6, 2025 |
| CACNA1D | 1 | May 21, 2024 |
| CACNA1E | 1 | May 21, 2024 |
| CACNA1F | 2 | Jan 6, 2025 |
| CACNA1S | 1 | Sep 25, 2025 |
| CAPN3 | 2 | Sep 25, 2025 |
| CARD11 | 1 | Jan 6, 2025 |
| CARD14 | 1 | Dec 12, 2023 |
| CASQ2 | 1 | Sep 25, 2025 |
| CBS | 1 | May 21, 2024 |
| CC2D2A | 2 | Feb 4, 2025 |
| CCBE1 | 5 | Sep 25, 2025 |
| CCDST | 4 | May 21, 2024 |
| CCM2 | 5 | Sep 25, 2025 |
| CCND2 | 1 | May 22, 2024 |
| CCNH | 24 | Sep 25, 2025 |
| CD38 | 1 | Sep 25, 2025 |
| CD47 | 1 | Sep 25, 2025 |
| CDC42 | 1 | Dec 12, 2023 |
| CDC42BPB | 2 | Jan 6, 2025 |
| CDH9 | 1 | Sep 25, 2025 |
| CDK13 | 1 | Dec 12, 2023 |
| CDK8 | 1 | Sep 25, 2025 |
| CDKN1C | 3 | Sep 25, 2025 |
| CEL | 3 | Sep 25, 2025 |
| CELSR1 | 29 | Sep 25, 2025 |
| CERS1 | 1 | Sep 25, 2025 |
| CFAP74 | 1 | May 21, 2024 |
| CFH | 3 | Sep 25, 2025 |
| CFHR4 | 2 | Jan 6, 2025 |
| CFHR5 | 2 | Sep 25, 2025 |
| CFI | 1 | Jan 6, 2025 |
| CFTR | 2 | Sep 25, 2025 |
| CFTR-AS1 | 1 | Sep 25, 2025 |
| CGN | 1 | Jan 6, 2025 |
| CHD1 | 1 | Dec 12, 2023 |
| CHD2 | 2 | Sep 25, 2025 |
| CHD3 | 1 | Dec 12, 2023 |
| CHD4 | 1 | Feb 4, 2025 |
| CHD5 | 2 | May 21, 2024 |
| CHD6 | 1 | Sep 25, 2025 |
| CHD7 | 2 | Jan 6, 2025 |
| CHD8 | 5 | Sep 25, 2025 |
| CLDN14 | 6 | Sep 25, 2025 |
| CLDN14-AS1 | 6 | Sep 25, 2025 |
| CLN6 | 1 | Feb 4, 2025 |
| CLSTN3 | 1 | Jan 6, 2025 |
| CLTC | 2 | Sep 25, 2025 |
| CNPY3-GNMT | 1 | Sep 25, 2025 |
| CNTNAP1 | 1 | Sep 25, 2025 |
| COG1 | 1 | May 21, 2024 |
| COG7 | 1 | Jan 6, 2025 |
| COL10A1 | 2 | Sep 25, 2025 |
| COL11A1 | 2 | Jan 6, 2025 |
| COL11A2 | 1 | Dec 12, 2023 |
| COL12A1 | 1 | Sep 25, 2025 |
| COL1A1 | 1 | May 21, 2024 |
| COL1A2 | 2 | Sep 25, 2025 |
| COL21A1 | 2 | May 21, 2024 |
| COL22A1 | 3 | Sep 25, 2025 |
| COL2A1 | 1 | Sep 25, 2025 |
| COL4A2 | 2 | Sep 25, 2025 |
| COL4A3 | 2 | May 22, 2024 |
| COL4A4 | 3 | Sep 25, 2025 |
| COL4A5 | 1 | May 22, 2024 |
| COL5A1 | 2 | Sep 25, 2025 |
| COL9A1 | 1 | Sep 25, 2025 |
| COL9A2 | 1 | Dec 12, 2023 |
| COPA | 1 | Sep 25, 2025 |
| COQ2 | 1 | Jan 6, 2025 |
| COQ8B | 1 | Sep 25, 2025 |
| CP | 2 | Sep 25, 2025 |
| CPEB4 | 1 | Dec 12, 2023 |
| CPOX | 1 | Dec 12, 2023 |
| CPT2 | 3 | Jan 6, 2025 |
| CRB2 | 2 | Jan 6, 2025 |
| CREBBP | 1 | May 21, 2024 |
| CRMP1 | 2 | Sep 25, 2025 |
| CSF1R | 1 | Sep 25, 2025 |
| CSF2RB | 1 | Jan 6, 2025 |
| CSMD1 | 1 | Jan 6, 2025 |
| CSNK2A1 | 3 | Sep 25, 2025 |
| CSNK2B | 1 | Jan 6, 2025 |
| CSTB | 1 | May 21, 2024 |
| CTLA4 | 1 | Sep 25, 2025 |
| CTNNB1 | 4 | Jan 7, 2025 |
| CTR9 | 1 | Jan 6, 2025 |
| CUBN | 5 | Sep 25, 2025 |
| CYP51A1 | 2 | May 21, 2024 |
| DAGLA | 1 | Dec 12, 2023 |
| DCC | 1 | Jan 6, 2025 |
| DCHS1 | 30 | Sep 25, 2025 |
| DCX | 1 | Sep 25, 2025 |
| DDX3X | 3 | Sep 25, 2025 |
| DEAF1 | 2 | Jan 6, 2025 |
| DENND5B | 1 | Jan 6, 2025 |
| DEPDC5 | 6 | Sep 25, 2025 |
| DGKE | 2 | Jan 6, 2025 |
| DGKI | 1 | Jan 6, 2025 |
| DHCR7 | 2 | Nov 18, 2025 |
| DHTKD1 | 1 | Dec 12, 2023 |
| DHX30 | 1 | Sep 25, 2025 |
| DIAPH3 | 1 | Jan 6, 2025 |
| DIAPH3-AS1 | 1 | Jan 6, 2025 |
| DIP2C | 1 | Sep 25, 2025 |
| DISP1 | 1 | Sep 25, 2025 |
| DLG4 | 3 | Sep 25, 2025 |
| DLL1 | 3 | Sep 25, 2025 |
| DLL4 | 1 | Jan 6, 2025 |
| DMD | 2 | Jan 6, 2025 |
| DMXL2 | 2 | Dec 12, 2023 |
| DNAH11 | 3 | Sep 25, 2025 |
| DNAH14 | 3 | Sep 25, 2025 |
| DNAH5 | 2 | Dec 12, 2023 |
| DNAH8 | 1 | Dec 12, 2023 |
| DNASE1 | 3 | Jan 6, 2025 |
| DNMT3A | 2 | Sep 25, 2025 |
| DOCK6 | 1 | Jan 6, 2025 |
| DOLK | 2 | Sep 25, 2025 |
| DPYD | 1 | May 21, 2024 |
| DPYS | 1 | Sep 25, 2025 |
| DPYSL2 | 1 | May 21, 2024 |
| DPYSL3 | 1 | Dec 12, 2023 |
| DRD4 | 1 | May 21, 2024 |
| DSG2 | 2 | Jan 6, 2025 |
| DSG2-AS1 | 2 | Jan 6, 2025 |
| DSP | 4 | Sep 25, 2025 |
| DTNA | 1 | Jan 6, 2025 |
| DUSP15 | 1 | May 21, 2024 |
| DUSP29 | 1 | Feb 4, 2025 |
| DVL1 | 1 | Dec 12, 2023 |
| DYNC1H1 | 2 | Sep 25, 2025 |
| EARS2 | 1 | Dec 12, 2023 |
| EBF1 | 1 | Sep 25, 2025 |
| EEF1A1 | 1 | Dec 12, 2023 |
| EFNB2 | 1 | Sep 25, 2025 |
| EFTUD2 | 1 | May 21, 2024 |
| EHHADH | 2 | Sep 25, 2025 |
| EHMT1 | 2 | Sep 25, 2025 |
| EIF2AK3 | 1 | Sep 25, 2025 |
| EIF2AK3-AS1 | 1 | Sep 25, 2025 |
| EIF3F | 1 | Dec 12, 2023 |
| ELANE | 1 | Jan 6, 2025 |
| ELMO2 | 2 | Sep 25, 2025 |
| ELN | 1 | Sep 25, 2025 |
| EMC1 | 1 | Sep 25, 2025 |
| EMC1-AS1 | 1 | Sep 25, 2025 |
| EMP2 | 3 | Jan 6, 2025 |
| ENG | 5 | Sep 25, 2025 |
| EP300 | 2 | Sep 25, 2025 |
| EPHB4 | 19 | Sep 25, 2025 |
| ERBB2 | 1 | Jan 6, 2025 |
| ERCC4 | 1 | May 21, 2024 |
| ERN1 | 1 | Jan 6, 2025 |
| ESCO2 | 1 | May 21, 2024 |
| ETF1 | 1 | Sep 25, 2025 |
| EXT1 | 1 | Dec 12, 2023 |
| EYA1 | 1 | Dec 12, 2023 |
| F11 | 1 | May 21, 2024 |
| F7 | 1 | Sep 25, 2025 |
| FAT1 | 5 | Sep 25, 2025 |
| FAT4 | 50 | Sep 25, 2025 |
| FBN1 | 4 | Feb 4, 2025 |
| FBN3 | 2 | Sep 25, 2025 |
| FBXL5 | 2 | Feb 4, 2025 |
| FBXW11 | 1 | Dec 12, 2023 |
| FDPS | 1 | Sep 25, 2025 |
| FFAR4 | 1 | May 21, 2024 |
| FGD1 | 1 | Sep 25, 2025 |
| FGFR1 | 9 | Sep 25, 2025 |
| FGFR2 | 6 | Sep 25, 2025 |
| FGFR3 | 3 | Jan 7, 2025 |
| FHOD3 | 1 | May 21, 2024 |
| FLG | 4 | May 21, 2024 |
| FLNA | 1 | May 21, 2024 |
| FLNC | 4 | Jan 6, 2025 |
| FLNC-AS1 | 1 | Jan 6, 2025 |
| FLT4 | 19 | Sep 25, 2025 |
| FN1 | 1 | Jan 6, 2025 |
| FOXC2 | 2 | Sep 25, 2025 |
| FOXC2-AS1 | 1 | Sep 25, 2025 |
| FOXF1 | 1 | Sep 25, 2025 |
| FOXP4 | 1 | Sep 25, 2025 |
| FPGT-TNNI3K | 2 | Sep 25, 2025 |
| FREM1 | 1 | Sep 25, 2025 |
| FRMD7 | 1 | Dec 12, 2023 |
| FRYL | 3 | Sep 25, 2025 |
| FZD2 | 1 | Jan 6, 2025 |
| GAA | 3 | Sep 25, 2025 |
| GABBR1 | 1 | May 21, 2024 |
| GABBR2 | 1 | Dec 12, 2023 |
| GABRB3 | 1 | Jan 6, 2025 |
| GABRD | 1 | Sep 25, 2025 |
| GAMT | 1 | Jan 6, 2025 |
| GATA2 | 2 | Jan 6, 2025 |
| GATA4 | 1 | Jan 6, 2025 |
| GATA6 | 2 | Sep 25, 2025 |
| GATAD1 | 1 | May 21, 2024 |
| GBA1 | 1 | May 21, 2024 |
| GBF1 | 1 | May 21, 2024 |
| GCK | 2 | Sep 25, 2025 |
| GDF1 | 1 | Sep 25, 2025 |
| GDF2 | 1 | Jan 6, 2025 |
| GDF5 | 1 | Sep 25, 2025 |
| GFAP | 1 | May 21, 2024 |
| GH-LCR | 1 | Dec 12, 2023 |
| GHR | 1 | Sep 25, 2025 |
| GHSR | 1 | Sep 25, 2025 |
| GIGYF2 | 1 | Sep 25, 2025 |
| GJA4 | 3 | Sep 25, 2025 |
| GJB2 | 2 | Sep 25, 2025 |
| GJC2 | 3 | Jan 6, 2025 |
| GLI2 | 1 | May 21, 2024 |
| GLI3 | 1 | Sep 25, 2025 |
| GLIS3 | 1 | Jan 6, 2025 |
| GLMN | 11 | Sep 25, 2025 |
| GNA11 | 5 | Sep 25, 2025 |
| GNA14 | 3 | Sep 25, 2025 |
| GNAQ | 6 | Jan 7, 2025 |
| GNAS | 17 | Sep 25, 2025 |
| GNAS-AS1 | 1 | May 22, 2024 |
| GNB1 | 1 | Sep 25, 2025 |
| GNMT | 1 | Sep 25, 2025 |
| GPAA1 | 1 | Feb 4, 2025 |
| GPD2 | 1 | May 21, 2024 |
| GRHL2 | 1 | Jan 6, 2025 |
| GRHL3 | 1 | Sep 25, 2025 |
| GRIA1 | 2 | Sep 25, 2025 |
| GRIK5 | 1 | Jan 6, 2025 |
| GRIN2B | 1 | Jan 6, 2025 |
| GRN | 1 | Sep 25, 2025 |
| GUCY2D | 1 | Jan 6, 2025 |
| H3-3A | 1 | Jan 6, 2025 |
| HADH | 1 | Sep 25, 2025 |
| HBB | 1 | Jan 6, 2025 |
| HCFC1 | 1 | Dec 12, 2023 |
| HDAC1 | 1 | Sep 25, 2025 |
| HDAC4 | 1 | May 21, 2024 |
| HECW2 | 1 | Dec 12, 2023 |
| HERC1 | 1 | May 21, 2024 |
| HERC2 | 1 | Sep 25, 2025 |
| HFE | 1 | Dec 12, 2023 |
| HGF | 1 | May 22, 2024 |
| HMBS | 1 | Sep 25, 2025 |
| HMGCS2 | 1 | Sep 25, 2025 |
| HNF1A | 2 | Sep 25, 2025 |
| HNF4A | 3 | Sep 25, 2025 |
| HNRNPK | 2 | Sep 25, 2025 |
| HNRNPK-AS1 | 1 | Sep 25, 2025 |
| HNRNPU | 1 | Dec 12, 2023 |
| HOGA1 | 1 | Sep 25, 2025 |
| HOMER2 | 1 | May 21, 2024 |
| HRAS | 12 | Sep 25, 2025 |
| HSALR1 | 20 | Sep 25, 2025 |
| HSPD1 | 1 | Sep 25, 2025 |
| HTRA1 | 1 | Sep 25, 2025 |
| HUWE1 | 4 | Jan 6, 2025 |
| IDH1 | 6 | Sep 25, 2025 |
| IDH2 | 6 | Sep 25, 2025 |
| IDUA | 1 | May 21, 2024 |
| IFIH1 | 1 | May 21, 2024 |
| IFITM3 | 1 | Sep 25, 2025 |
| IFT140 | 1 | Sep 25, 2025 |
| IFT70B | 1 | Sep 25, 2025 |
| IGF2 | 1 | Sep 25, 2025 |
| IL6ST | 1 | Feb 4, 2025 |
| IL7 | 1 | Dec 12, 2023 |
| IMMT | 1 | May 21, 2024 |
| INF2 | 2 | Jan 6, 2025 |
| INS-IGF2 | 1 | Sep 25, 2025 |
| INSR | 1 | Jan 6, 2025 |
| INTS11 | 1 | May 21, 2024 |
| INVS | 1 | Dec 12, 2023 |
| IPO9-AS1 | 1 | Sep 25, 2025 |
| IQSEC2 | 2 | Dec 12, 2023 |
| IRAK1BP1 | 2 | Sep 25, 2025 |
| IRAK3 | 1 | Jan 6, 2025 |
| ITGA2B | 1 | Sep 25, 2025 |
| ITGA3 | 2 | Jan 6, 2025 |
| ITGB4 | 1 | Jan 6, 2025 |
| ITPR1 | 1 | May 21, 2024 |
| ITSN1 | 1 | Dec 12, 2023 |
| JARID2 | 2 | Sep 25, 2025 |
| JMJD1C | 1 | Dec 12, 2023 |
| JMJD8 | 1 | Feb 4, 2025 |
| JUP | 1 | Jan 6, 2025 |
| KANK1 | 2 | Jan 6, 2025 |
| KANK2 | 1 | Jan 6, 2025 |
| KANK4 | 1 | Sep 25, 2025 |
| KANSL1 | 2 | Sep 25, 2025 |
| KAT5 | 2 | May 21, 2024 |
| KAT6B | 1 | Feb 4, 2025 |
| KAT8 | 1 | Sep 25, 2025 |
| KCNA2 | 2 | Jan 6, 2025 |
| KCNA3 | 1 | Jan 6, 2025 |
| KCNC1 | 1 | May 21, 2024 |
| KCND2 | 1 | Jan 6, 2025 |
| KCNH2 | 6 | Sep 25, 2025 |
| KCNJ11 | 1 | Jan 6, 2025 |
| KCNJ13 | 1 | Sep 25, 2025 |
| KCNQ1 | 4 | Sep 25, 2025 |
| KCNQ1-AS1 | 1 | Sep 25, 2025 |
| KCNQ5 | 2 | Jan 6, 2025 |
| KCNQ5-DT | 1 | Jan 6, 2025 |
| KDM3B | 2 | Feb 4, 2025 |
| KDM4B | 1 | Jan 6, 2025 |
| KDM5B | 1 | May 21, 2024 |
| KDM5C | 1 | Sep 25, 2025 |
| KDM6B | 1 | Sep 25, 2025 |
| KDR | 6 | Sep 25, 2025 |
| KEL | 7 | Sep 25, 2025 |
| KIDINS220 | 1 | Dec 12, 2023 |
| KIF11 | 4 | Sep 25, 2025 |
| KIF1A | 2 | Sep 25, 2025 |
| KIF21A | 1 | May 21, 2024 |
| KIF26A | 1 | Sep 25, 2025 |
| KIF4A | 1 | Sep 25, 2025 |
| KIF5A | 1 | Dec 12, 2023 |
| KIF5B | 1 | Feb 4, 2025 |
| KIT | 1 | Feb 4, 2025 |
| KLF9-DT | 1 | May 21, 2024 |
| KLHL15 | 1 | Sep 25, 2025 |
| KMT2A | 3 | Feb 4, 2025 |
| KMT2B | 3 | Sep 25, 2025 |
| KMT2C | 2 | Feb 4, 2025 |
| KMT2D | 2 | Sep 25, 2025 |
| KMT2E | 2 | Feb 4, 2025 |
| KRAS | 15 | Sep 25, 2025 |
| KRIT1 | 12 | Sep 25, 2025 |
| KRT1 | 3 | Sep 25, 2025 |
| KRT10 | 2 | May 22, 2024 |
| KRT10-AS1 | 2 | May 22, 2024 |
| KRT14 | 1 | Sep 25, 2025 |
| KRT2 | 1 | Sep 25, 2025 |
| KRT85 | 1 | Sep 25, 2025 |
| LAMA2 | 2 | Feb 4, 2025 |
| LDB3 | 1 | Sep 25, 2025 |
| LDLR | 3 | Sep 25, 2025 |
| LEMD3 | 1 | Sep 25, 2025 |
| LHX4 | 1 | May 21, 2024 |
| LHX4-AS1 | 1 | May 21, 2024 |
| LIG4 | 1 | Sep 25, 2025 |
| LIPE | 1 | May 21, 2024 |
| LIPE-AS1 | 1 | May 21, 2024 |
| LMNA | 2 | Jan 6, 2025 |
| LMNB2 | 1 | Jan 6, 2025 |
| LOC100507346 | 1 | Jan 7, 2025 |
| LOC101448202 | 1 | Sep 25, 2025 |
| LOC101930071 | 1 | May 21, 2024 |
| LOC102723566 | 1 | Sep 25, 2025 |
| LOC102724058 | 3 | Sep 25, 2025 |
| LOC105371046 | 1 | Sep 25, 2025 |
| LOC106099062 | 1 | Jan 6, 2025 |
| LOC106627981 | 1 | May 21, 2024 |
| LOC107133510 | 1 | Jan 6, 2025 |
| LOC107652445 | 1 | Feb 4, 2025 |
| LOC110121269 | 2 | Jan 6, 2025 |
| LOC121627952 | 2 | Sep 25, 2025 |
| LOC126806430 | 1 | Jan 6, 2025 |
| LOC126806498 | 1 | Jan 6, 2025 |
| LOC126806658 | 2 | May 22, 2024 |
| LOC126806659 | 1 | Dec 12, 2023 |
| LOC126806878 | 1 | May 21, 2024 |
| LOC126807253 | 1 | Jan 6, 2025 |
| LOC126807343 | 1 | Sep 25, 2025 |
| LOC126807632 | 1 | Sep 25, 2025 |
| LOC126859784 | 1 | Feb 4, 2025 |
| LOC126860124 | 3 | Jan 6, 2025 |
| LOC126860202 | 1 | Jan 6, 2025 |
| LOC126860554 | 1 | May 22, 2024 |
| LOC126860585 | 1 | Dec 12, 2023 |
| LOC126861140 | 1 | Jan 6, 2025 |
| LOC126861637 | 1 | Jan 7, 2025 |
| LOC126861638 | 1 | Jan 7, 2025 |
| LOC126861841 | 1 | Sep 25, 2025 |
| LOC126861887 | 1 | Dec 12, 2023 |
| LOC126862264 | 1 | Jan 6, 2025 |
| LOC126863018 | 1 | May 21, 2024 |
| LOC126863170 | 1 | Sep 25, 2025 |
| LOC126863257 | 1 | Jan 6, 2025 |
| LOC129390143 | 1 | May 22, 2024 |
| LOC129930446 | 1 | May 21, 2024 |
| LOC129935183 | 1 | Jan 6, 2025 |
| LOC129936665 | 1 | Jan 6, 2025 |
| LOC129937199 | 1 | Sep 25, 2025 |
| LOC129999303 | 1 | Dec 12, 2023 |
| LOC130004340 | 1 | May 21, 2024 |
| LOC130005209 | 1 | Jan 6, 2025 |
| LOC130058479 | 1 | May 21, 2024 |
| LOC130059751 | 1 | Jan 6, 2025 |
| LOC130061397 | 1 | Sep 25, 2025 |
| LOC130063066 | 1 | Jan 6, 2025 |
| LOC130063979 | 1 | Sep 25, 2025 |
| LOC130066420 | 1 | May 22, 2024 |
| LOC130066813 | 1 | Dec 12, 2023 |
| LOC130068562 | 1 | Sep 25, 2025 |
| LPL | 1 | May 21, 2024 |
| LRBA | 4 | Sep 25, 2025 |
| LRP2 | 2 | Sep 25, 2025 |
| LRRC37A2 | 1 | Jan 6, 2025 |
| LRRC56 | 12 | Sep 25, 2025 |
| LRRK2 | 2 | Jan 6, 2025 |
| LRSAM1 | 1 | May 21, 2024 |
| LYST | 1 | Feb 24, 2025 |
| LZTR1 | 27 | Sep 25, 2025 |
| MADD | 1 | Jan 6, 2025 |
| MAGEL2 | 2 | Feb 4, 2025 |
| MAN2B2 | 2 | Sep 25, 2025 |
| MAOA | 1 | Jan 6, 2025 |
| MAP1B | 1 | Dec 12, 2023 |
| MAP2K1 | 10 | Sep 25, 2025 |
| MAP2K2 | 1 | Sep 25, 2025 |
| MAP3K3 | 9 | Sep 25, 2025 |
| MAP3K7 | 1 | Sep 25, 2025 |
| MAPK8IP3 | 1 | Dec 12, 2023 |
| MARK2 | 1 | Dec 12, 2023 |
| MASP2 | 1 | Jan 6, 2025 |
| MAST2 | 1 | May 21, 2024 |
| MBD5 | 2 | Sep 25, 2025 |
| MC4R | 3 | Sep 25, 2025 |
| MDGA2 | 1 | Sep 25, 2025 |
| MED12L | 1 | Sep 25, 2025 |
| MED13 | 7 | Sep 25, 2025 |
| MED13L | 2 | Sep 25, 2025 |
| MEFV | 2 | Jan 6, 2025 |
| MEIS1 | 1 | Jan 6, 2025 |
| MEIS2 | 1 | Sep 25, 2025 |
| MET | 4 | Sep 25, 2025 |
| MFF-DT | 2 | May 22, 2024 |
| MID1 | 1 | May 21, 2024 |
| MKRN2 | 1 | Sep 25, 2025 |
| MMACHC | 1 | May 21, 2024 |
| MMP21 | 2 | Sep 25, 2025 |
| MSH2 | 2 | May 21, 2024 |
| MSH6 | 2 | May 21, 2024 |
| MSI2 | 1 | Dec 12, 2023 |
| MTMR2 | 1 | Sep 25, 2025 |
| MTOR | 24 | Sep 25, 2025 |
| MVD | 1 | Sep 25, 2025 |
| MXRA5 | 1 | Dec 12, 2023 |
| MYBPC3 | 9 | Sep 25, 2025 |
| MYCBP2 | 2 | Jan 6, 2025 |
| MYCN | 1 | Dec 12, 2023 |
| MYH10 | 1 | Sep 25, 2025 |
| MYH11 | 1 | Jan 6, 2025 |
| MYH3 | 1 | May 21, 2024 |
| MYH6 | 1 | Sep 25, 2025 |
| MYH7 | 5 | Sep 25, 2025 |
| MYLK | 4 | Sep 25, 2025 |
| MYLK2 | 1 | Jan 6, 2025 |
| MYLK3 | 1 | Sep 25, 2025 |
| MYO10 | 1 | Dec 12, 2023 |
| MYO19 | 2 | Sep 25, 2025 |
| MYO7A | 1 | Sep 25, 2025 |
| MYOM1 | 2 | Sep 25, 2025 |
| MYT1L | 1 | Sep 25, 2025 |
| NAA10 | 1 | May 21, 2024 |
| NAA15 | 3 | Sep 25, 2025 |
| NAGLU | 1 | May 21, 2024 |
| NALCN | 1 | May 21, 2024 |
| NARS2 | 1 | Jan 6, 2025 |
| NAV1 | 1 | Sep 25, 2025 |
| NAV3 | 2 | Sep 25, 2025 |
| NCOR1 | 1 | Dec 12, 2023 |
| NDE1 | 1 | Jan 6, 2025 |
| NDUFA9 | 1 | Dec 12, 2023 |
| NEBL | 1 | May 22, 2024 |
| NEDD4L | 2 | Dec 12, 2023 |
| NEFH | 1 | Sep 25, 2025 |
| NEK8 | 1 | Jan 6, 2025 |
| NEK9 | 1 | Sep 25, 2025 |
| NETO1 | 1 | Jan 6, 2025 |
| NEUROD1 | 1 | Sep 25, 2025 |
| NEXMIF | 1 | May 21, 2024 |
| NF1 | 16 | Sep 25, 2025 |
| NF2 | 3 | Jan 6, 2025 |
| NFIB | 1 | Jan 6, 2025 |
| NIPBL | 3 | Sep 25, 2025 |
| NKX2-1 | 1 | Sep 25, 2025 |
| NLRC3 | 3 | Sep 25, 2025 |
| NLRP12 | 1 | Feb 4, 2025 |
| NLRP3 | 1 | May 21, 2024 |
| NMNAT1 | 1 | May 21, 2024 |
| NODAL | 1 | Sep 25, 2025 |
| NOTCH1 | 1 | Feb 4, 2025 |
| NOTCH2 | 1 | Sep 25, 2025 |
| NOTCH3 | 5 | Sep 25, 2025 |
| NPR2 | 1 | May 21, 2024 |
| NRAS | 4 | Sep 25, 2025 |
| NRXN3 | 1 | May 21, 2024 |
| NSD1 | 3 | Sep 25, 2025 |
| NSD2 | 1 | Jan 6, 2025 |
| NSF | 1 | Jan 6, 2025 |
| NT5DC1 | 2 | Sep 25, 2025 |
| NTRK3 | 1 | Jan 6, 2025 |
| NUP205 | 1 | May 22, 2024 |
| NYX | 1 | May 21, 2024 |
| OBSCN | 14 | Sep 25, 2025 |
| OBSCN-AS1 | 1 | Sep 25, 2025 |
| OCA2 | 2 | Dec 12, 2023 |
| OFD1 | 1 | Jan 6, 2025 |
| OGDHL | 2 | Sep 25, 2025 |
| OTC | 2 | Sep 25, 2025 |
| OTOG | 1 | Jan 6, 2025 |
| OTOGL | 1 | Jan 6, 2025 |
| PACS1 | 1 | Dec 12, 2023 |
| PAK3 | 1 | Sep 25, 2025 |
| PALB2 | 3 | May 21, 2024 |
| PAX3 | 1 | Jan 6, 2025 |
| PCGF2 | 1 | Dec 12, 2023 |
| PCM1 | 1 | Sep 25, 2025 |
| PDE10A | 1 | Sep 25, 2025 |
| PDE11A | 1 | Dec 12, 2023 |
| PDE4D | 1 | May 21, 2024 |
| PDGFRB | 11 | Sep 25, 2025 |
| PDX1 | 1 | Jan 6, 2025 |
| PDZD2 | 1 | Sep 25, 2025 |
| PEA15 | 1 | Jan 6, 2025 |
| PEBP4 | 2 | Sep 25, 2025 |
| PEX1 | 1 | May 21, 2024 |
| PGAP2 | 1 | Sep 25, 2025 |
| PHF14 | 1 | Dec 12, 2023 |
| PHF21A | 1 | Jan 6, 2025 |
| PHIP | 3 | Sep 25, 2025 |
| PIDD1 | 3 | Jan 6, 2025 |
| PIEZO1 | 64 | Sep 25, 2025 |
| PIEZO2 | 1 | Sep 25, 2025 |
| PIGW | 2 | Sep 25, 2025 |
| PIK3CA | 50 | Sep 25, 2025 |
| PIK3CD | 5 | Sep 25, 2025 |
| PIK3R1 | 15 | Sep 25, 2025 |
| PIK3R2 | 6 | Sep 25, 2025 |
| PIK3R4 | 1 | Jan 6, 2025 |
| PKD1 | 6 | Sep 25, 2025 |
| PKD1-AS1 | 1 | Jan 6, 2025 |
| PKD1L1 | 3 | Sep 25, 2025 |
| PKLR | 2 | Feb 4, 2025 |
| PKP2 | 3 | Sep 25, 2025 |
| PLCE1 | 3 | Jan 6, 2025 |
| PLCG2 | 3 | Sep 25, 2025 |
| PLEC | 1 | Dec 12, 2023 |
| PLEKHM2 | 1 | Jan 6, 2025 |
| PLIN1 | 1 | Jan 6, 2025 |
| PLP1 | 1 | May 21, 2024 |
| PLUT | 1 | Jan 6, 2025 |
| PLXNA1 | 2 | Sep 25, 2025 |
| PLXNA3 | 2 | Jan 6, 2025 |
| PLXNB3 | 1 | Sep 25, 2025 |
| PLXND1 | 1 | Sep 25, 2025 |
| PMM2 | 3 | Sep 25, 2025 |
| PMP2 | 1 | May 21, 2024 |
| PMS2 | 3 | Jan 22, 2026 |
| PNPLA3 | 1 | Oct 18, 2024 |
| POGLUT1 | 1 | May 21, 2024 |
| POGZ | 3 | Sep 25, 2025 |
| POLA1 | 1 | Sep 25, 2025 |
| POLD1 | 1 | May 21, 2024 |
| POLR1A | 1 | Sep 25, 2025 |
| POLR2A | 4 | Sep 25, 2025 |
| POLRMT | 3 | Sep 25, 2025 |
| POT1 | 1 | May 21, 2024 |
| PPARG | 1 | Sep 25, 2025 |
| PPFIA3 | 1 | Dec 12, 2023 |
| PPM1D | 1 | Sep 25, 2025 |
| PPP1CB | 1 | Sep 25, 2025 |
| PPP1R3F | 1 | May 21, 2024 |
| PPP2R1A | 1 | Sep 25, 2025 |
| PPP2R5D | 1 | May 21, 2024 |
| PQBP1 | 1 | Sep 25, 2025 |
| PRDM16 | 1 | Sep 25, 2025 |
| PRICKLE2 | 2 | May 21, 2024 |
| PRICKLE2-AS1 | 2 | May 21, 2024 |
| PRKACA | 4 | Jan 6, 2025 |
| PRKAG2 | 1 | Sep 25, 2025 |
| PROKR2 | 1 | Sep 25, 2025 |
| PSMB11 | 1 | Dec 12, 2023 |
| PSMC5 | 1 | Jan 6, 2025 |
| PSMD13 | 1 | Jan 6, 2025 |
| PTCH1 | 2 | Jan 7, 2025 |
| PTEN | 13 | Sep 25, 2025 |
| PTF1A | 1 | Sep 25, 2025 |
| PTPN11 | 6 | Jan 7, 2025 |
| PTPN14 | 13 | Sep 25, 2025 |
| PTPN4 | 1 | Feb 4, 2025 |
| PTPRO | 1 | Jan 6, 2025 |
| PTPRT | 1 | Sep 25, 2025 |
| PUF60 | 1 | Sep 25, 2025 |
| PURA | 1 | Jan 6, 2025 |
| PYGM | 1 | Jan 6, 2025 |
| R3HDML-AS1 | 1 | Sep 25, 2025 |
| RAB5A | 1 | Dec 12, 2023 |
| RAB5C | 1 | Jan 6, 2025 |
| RAB9B | 1 | May 21, 2024 |
| RAF1 | 1 | Sep 25, 2025 |
| RAI1 | 1 | Jan 6, 2025 |
| RANBP2 | 1 | Dec 12, 2023 |
| RARB | 1 | Sep 25, 2025 |
| RASA1 | 26 | Sep 25, 2025 |
| RASA2 | 1 | Sep 25, 2025 |
| RBFOX2 | 2 | Sep 25, 2025 |
| REEP1 | 1 | Jan 6, 2025 |
| RELN | 2 | Sep 25, 2025 |
| RERE | 1 | Dec 12, 2023 |
| RET | 1 | Dec 12, 2023 |
| REV3L | 1 | Dec 12, 2023 |
| RFX6 | 2 | Sep 25, 2025 |
| RFX7 | 1 | Sep 25, 2025 |
| RHEB | 1 | May 22, 2024 |
| RHOA | 2 | Sep 25, 2025 |
| RHOBTB2 | 1 | Sep 25, 2025 |
| RLIM | 1 | Sep 25, 2025 |
| RNASEH2B | 1 | May 21, 2024 |
| RNU4-1 | 1 | Sep 25, 2025 |
| RNU4-2 | 1 | Sep 25, 2025 |
| ROBO4 | 1 | May 21, 2024 |
| ROR2 | 1 | May 21, 2024 |
| RORA | 1 | Dec 12, 2023 |
| RORA-AS1 | 1 | Dec 12, 2023 |
| RRAS | 1 | Dec 12, 2023 |
| RYR1 | 6 | Sep 25, 2025 |
| RYR2 | 5 | Sep 25, 2025 |
| SALL1 | 1 | May 21, 2024 |
| SATB1 | 1 | Sep 25, 2025 |
| SCAF4 | 1 | Sep 25, 2025 |
| SCAMP4 | 1 | Sep 25, 2025 |
| SCN10A | 1 | Jan 6, 2025 |
| SCN1A | 5 | Sep 25, 2025 |
| SCN1A-AS1 | 2 | Jan 6, 2025 |
| SCN1B | 1 | Jan 6, 2025 |
| SCN2A | 4 | Sep 25, 2025 |
| SCN4A | 1 | Dec 12, 2023 |
| SCN5A | 4 | Sep 25, 2025 |
| SCN8A | 1 | May 21, 2024 |
| SCN9A | 2 | Jan 6, 2025 |
| SCUBE3 | 1 | Sep 25, 2025 |
| SDHA | 1 | Dec 12, 2023 |
| SEMA6D | 1 | Dec 12, 2023 |
| SERPINA1 | 1 | Dec 12, 2023 |
| SERPINC1 | 1 | Sep 25, 2025 |
| SESTD1 | 1 | Sep 25, 2025 |
| SETD1A | 1 | Sep 25, 2025 |
| SETD1B | 1 | Sep 25, 2025 |
| SETD2 | 1 | Jan 6, 2025 |
| SFTA3 | 1 | Sep 25, 2025 |
| SFTPA2 | 1 | Jan 6, 2025 |
| SFTPC | 1 | Jan 6, 2025 |
| SH2B1 | 2 | Sep 25, 2025 |
| SH3RF2 | 2 | Jan 6, 2025 |
| SHANK1 | 1 | Dec 12, 2023 |
| SHANK2 | 2 | Sep 25, 2025 |
| SHANK3 | 1 | Dec 12, 2023 |
| SHH | 2 | Sep 25, 2025 |
| SHOC2 | 3 | Jan 6, 2025 |
| SHOX | 1 | Feb 4, 2025 |
| SIK1 | 1 | Dec 12, 2023 |
| SIRT4 | 1 | Sep 25, 2025 |
| SLC12A2 | 2 | Sep 25, 2025 |
| SLC12A9 | 1 | Jan 7, 2025 |
| SLC17A8 | 1 | Dec 12, 2023 |
| SLC1A2 | 1 | Dec 12, 2023 |
| SLC25A46 | 2 | Dec 12, 2023 |
| SLC35F1 | 1 | Dec 12, 2023 |
| SLC37A4 | 1 | Sep 25, 2025 |
| SLC4A10 | 1 | Jan 6, 2025 |
| SLITRK2 | 1 | May 21, 2024 |
| SMAD3 | 2 | Jan 6, 2025 |
| SMAD4 | 2 | Sep 25, 2025 |
| SMAD6 | 2 | Sep 25, 2025 |
| SMARCC2 | 1 | Jan 6, 2025 |
| SMC3 | 1 | Jan 6, 2025 |
| SMO | 19 | Sep 25, 2025 |
| SNAPC4 | 2 | Dec 12, 2023 |
| SNAPC5 | 1 | Sep 25, 2025 |
| SNHG31 | 1 | Sep 25, 2025 |
| SOCS1 | 1 | May 21, 2024 |
| SON | 1 | May 21, 2024 |
| SOS1 | 4 | Sep 25, 2025 |
| SOS2 | 1 | May 21, 2024 |
| SOX1 | 1 | Sep 25, 2025 |
| SOX1-OT | 1 | Sep 25, 2025 |
| SOX18 | 4 | Sep 25, 2025 |
| SPEN | 2 | Sep 25, 2025 |
| SPG11 | 1 | May 21, 2024 |
| SPG21 | 1 | Sep 25, 2025 |
| SPI1 | 1 | Dec 12, 2023 |
| SPNS2 | 1 | Feb 4, 2025 |
| SPOP | 1 | May 21, 2024 |
| SPRED1 | 1 | Jan 6, 2025 |
| SPTA1 | 1 | Sep 25, 2025 |
| SPTAN1 | 2 | Sep 25, 2025 |
| SPTBN1 | 2 | May 21, 2024 |
| SPTLC1 | 1 | Jan 6, 2025 |
| STAG1 | 1 | Sep 25, 2025 |
| STAG2 | 1 | May 21, 2024 |
| STAMBP | 1 | Jan 6, 2025 |
| STAT5B | 1 | Dec 12, 2023 |
| STEEP1 | 1 | Sep 25, 2025 |
| STK36 | 2 | Sep 25, 2025 |
| STRC | 1 | Jan 6, 2025 |
| STUB1 | 1 | Feb 4, 2025 |
| STX8 | 1 | Dec 12, 2023 |
| SUPT16H | 1 | Dec 12, 2023 |
| SYNCRIP | 1 | Sep 25, 2025 |
| SYNE2 | 1 | Sep 25, 2025 |
| SYNGAP1 | 2 | Dec 12, 2023 |
| SYNGAP1-AS1 | 2 | Dec 12, 2023 |
| SYP | 1 | Dec 12, 2023 |
| SYP-AS1 | 1 | Dec 12, 2023 |
| TAMM41 | 1 | Feb 4, 2025 |
| TAOK1 | 1 | May 21, 2024 |
| TBC1D15 | 2 | Sep 25, 2025 |
| TBL1XR1 | 1 | May 21, 2024 |
| TBL1XR1-AS1 | 1 | May 21, 2024 |
| TBX1 | 1 | Jan 6, 2025 |
| TBX5 | 1 | May 21, 2024 |
| TBXT | 1 | Sep 25, 2025 |
| TCF20 | 1 | Feb 4, 2025 |
| TCF3 | 2 | Sep 25, 2025 |
| TCF4 | 1 | Sep 25, 2025 |
| TCOF1 | 2 | Sep 25, 2025 |
| TEK | 36 | Sep 25, 2025 |
| TERT | 2 | Sep 25, 2025 |
| TET3 | 4 | Sep 25, 2025 |
| TFAP2B | 1 | Sep 25, 2025 |
| TG | 1 | Jan 6, 2025 |
| TGFBI | 2 | Sep 25, 2025 |
| TGFBR1 | 1 | May 21, 2024 |
| TGM1 | 1 | Jan 6, 2025 |
| THAP7 | 1 | Feb 4, 2025 |
| THBD | 3 | Sep 25, 2025 |
| THOC1 | 1 | Jan 6, 2025 |
| THRB | 1 | Sep 25, 2025 |
| THSD1 | 1 | May 21, 2024 |
| TIAM1 | 1 | Sep 25, 2025 |
| TIE1 | 1 | May 21, 2024 |
| TINF2 | 1 | May 21, 2024 |
| TJP1 | 1 | May 22, 2024 |
| TLK2 | 1 | May 21, 2024 |
| TLR8 | 1 | Sep 25, 2025 |
| TLR8-AS1 | 1 | Sep 25, 2025 |
| TMC1 | 1 | May 21, 2024 |
| TNFRSF13B | 3 | Feb 4, 2025 |
| TNKS2 | 1 | May 21, 2024 |
| TNNI3K | 2 | Sep 25, 2025 |
| TNNT2 | 1 | Sep 25, 2025 |
| TNRC6B | 3 | Sep 25, 2025 |
| TOP2B | 1 | May 21, 2024 |
| TOR1AIP1 | 1 | Sep 25, 2025 |
| TP53 | 1 | Aug 21, 2017 |
| TP63 | 1 | Dec 12, 2023 |
| TRAPPC10 | 1 | Jan 6, 2025 |
| TRIM63 | 1 | May 22, 2024 |
| TRIO | 3 | Sep 25, 2025 |
| TRIP12 | 2 | Feb 4, 2025 |
| TRMT10A | 2 | Jan 6, 2025 |
| TRPC6 | 1 | Jan 6, 2025 |
| TRPM3 | 1 | May 21, 2024 |
| TRPM7 | 1 | Sep 25, 2025 |
| TRRAP | 5 | Sep 25, 2025 |
| TSC1 | 11 | Sep 25, 2025 |
| TSC2 | 23 | Sep 25, 2025 |
| TSR2 | 1 | Sep 25, 2025 |
| TTC21B | 2 | Sep 25, 2025 |
| TTN | 31 | Sep 25, 2025 |
| TTN-AS1 | 22 | Sep 25, 2025 |
| TTR | 1 | May 21, 2024 |
| TUBB | 1 | Jan 6, 2025 |
| TUBB3 | 2 | Feb 4, 2025 |
| TXNRD2 | 2 | Sep 25, 2025 |
| TYR | 3 | Sep 25, 2025 |
| UBA2 | 1 | Dec 12, 2023 |
| UBR5 | 1 | Sep 25, 2025 |
| UBXN7 | 1 | Dec 12, 2023 |
| UCP3 | 1 | May 21, 2024 |
| ULK2 | 1 | Sep 25, 2025 |
| UMPS | 1 | Sep 25, 2025 |
| UNC79 | 1 | Jan 6, 2025 |
| UPF1 | 1 | Sep 25, 2025 |
| UPF2 | 1 | Dec 12, 2023 |
| USH2A | 1 | Jan 6, 2025 |
| USP9X | 1 | Jan 6, 2025 |
| VAX2 | 1 | Dec 12, 2023 |
| VCF1 | 1 | May 21, 2024 |
| VEGFC | 1 | Sep 25, 2025 |
| VHL | 1 | Sep 25, 2025 |
| VPS13D | 2 | Sep 25, 2025 |
| WAC | 1 | Jan 6, 2025 |
| WASF1 | 1 | Jan 6, 2025 |
| WBP11 | 1 | May 21, 2024 |
| WDFY3 | 2 | May 21, 2024 |
| WDR11 | 3 | Feb 4, 2025 |
| WDR24 | 2 | Dec 12, 2023 |
| WFS1 | 4 | Sep 25, 2025 |
| WNT10A | 2 | Jan 6, 2025 |
| WWP1 | 1 | Dec 12, 2023 |
| XRCC4 | 1 | Sep 25, 2025 |
| ZBTB17 | 1 | Sep 25, 2025 |
| ZBTB20 | 1 | Dec 12, 2023 |
| ZC2HC1A | 1 | Dec 12, 2023 |
| ZDHHC24 | 1 | Sep 25, 2025 |
| ZFHX3 | 1 | May 21, 2024 |
| ZFHX4 | 2 | Jan 6, 2025 |
| ZFP57 | 1 | Sep 25, 2025 |
| ZFPM1 | 1 | Sep 25, 2025 |
| ZNF142 | 2 | Feb 4, 2025 |
| ZNF462 | 1 | Dec 12, 2023 |
| ZNF469 | 1 | May 21, 2024 |
| ZNF532 | 1 | Jan 6, 2025 |
| ZNF827 | 1 | Dec 12, 2023 |
| ZNF865 | 1 | May 21, 2024 |
| ZSWIM6 | 1 | Sep 25, 2025 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA | 1 test |
| Acrokeratosis verruciformis of Hopf | 2 tests |
| Alport syndrome | 2 tests |
| Angioosteohypertrophic syndrome | 2 tests |
| Arrhythmogenic right ventricular cardiomyopathy | 3 tests |
| Atypical hemolytic-uremic syndrome | 1 test |
| Autoimmune lymphoproliferative syndrome | 1 test |
| Autoinflammation, immune dysregulation, and eosinophilia | 2 tests |
| Autosomal dominant Alport syndrome | 1 test |
| Autosomal dominant polycystic kidney disease | 1 test |
| Autosomal recessive Alport syndrome | 1 test |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome | 1 test |
| Autosomal recessive polycystic kidney disease | 1 test |
| Bannayan-Riley-Ruvalcaba syndrome | 1 test |
| Baraitser-Winter syndrome | 3 tests |
| Basal cell nevus syndrome 1 | 1 test |
| Basal cell nevus syndrome 2 | 1 test |
| Becker nevus syndrome | 2 tests |
| Beckwith-Wiedemann syndrome | 2 tests |
| Branchiootorenal Spectrum Disorders | 1 test |
| Brugada syndrome | 3 tests |
| CLOVES syndrome | 2 tests |
| Capillary malformation | 3 tests |
| Capillary malformation-arteriovenous malformation 2 | 1 test |
| Cardiac arrhythmia | 5 tests |
| Cardioacrofacial dysplasia | 1 test |
| Cardioacrofacial dysplasia 1 | 1 test |
| Cardioacrofacial dysplasia 2 | 1 test |
| Cardiofaciocutaneous syndrome 1 | 1 test |
| Cardiomyopathy | 1 test |
| Cardiomyopathy, hypertrophic, midventricular, digenic | 3 tests |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 3 tests |
| Cerebral arteriovenous malformation | 1 test |
| Cerebral cavernous malformation | 2 tests |
| Chondrodysplasia punctata | 2 tests |
| Coenzyme Q10 deficiency | 1 test |
| Coenzyme Q10 deficiency, primary, 3 | 1 test |
| Complex cortical dysplasia with other brain malformations | 2 tests |
| Complex cortical dysplasia with other brain malformations 2 | 2 tests |
| Complex cortical dysplasia with other brain malformations 7 | 1 test |
| Complex neurodevelopmental disorder with or without congenital anomalies | 1 test |
| Complex vascular malformation with associated anomalies | 1 test |
| Congenital disorder of glycosylation | 1 test |
| Congenital hemangioma | 1 test |
| Congenital ichthyosis of skin | 1 test |
| Cowden syndrome | 1 test |
| Curry-Jones syndrome | 3 tests |
| Darier disease, segmental | 1 test |
| Deafness-lymphedema-leukemia syndrome | 1 test |
| Developmental and epileptic encephalopathy 111 | 1 test |
| Developmental and epileptic encephalopathy 6B | 1 test |
| Developmental and epileptic encephalopathy, 11 | 1 test |
| Developmental and epileptic encephalopathy, 19 | 1 test |
| Developmental and epileptic encephalopathy, 2 | 2 tests |
| Developmental and epileptic encephalopathy, 27 | 2 tests |
| Developmental and epileptic encephalopathy, 7 | 2 tests |
| Developmental and epileptic encephalopathy, 74 | 1 test |
| Developmental and epileptic encephalopathy, 78 | 1 test |
| Developmental and epileptic encephalopathy, 9 | 2 tests |
| Diabetes mellitus | 5 tests |
| Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | 1 test |
| Encephalocraniocutaneous lipomatosis | 2 tests |
| Enchondromatosis | 1 test |
| Epidermal nevus | 2 tests |
| Epidermolytic hyperkeratosis 1 | 1 test |
| Epidermolytic hyperkeratosis 2A, autosomal dominant | 1 test |
| Epilepsy | 1 test |
| Epilepsy, familial focal, with variable foci 2 | 1 test |
| Epilepsy, familial focal, with variable foci 3 | 1 test |
| Familial benign pemphigus | 2 tests |
| Familial focal epilepsy with variable foci | 1 test |
| Familial hyperinsulinism | 1 test |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 test |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 test |
| Focal segmental glomerulosclerosis | 2 tests |
| Glomuvenous malformation | 1 test |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 test |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 test |
| Hemangiomatosis, cutaneous, with associated features | 1 test |
| Hemimegalencephaly | 2 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 test |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 test |
| Hereditary hemorrhagic telangiectasia | 1 test |
| Heterotopia, periventricular, X-linked dominant | 1 test |
| Hypereosinophilic syndrome | 1 test |
| Hyperinsulinemic hypoglycemia | 1 test |
| Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations | 1 test |
| Hypertrophic cardiomyopathy | 1 test |
| Hypoinsulinemic hypoglycemia and body hemihypertrophy | 2 tests |
| Hypotrichosis-lymphedema-telangiectasia syndrome | 1 test |
| IMAGe syndrome | 1 test |
| Ichthyosis | 2 tests |
| Ichthyosis bullosa of Siemens | 1 test |
| Immunodeficiency 14 | 1 test |
| Immunodeficiency 36 with lymphoproliferation | 2 tests |
| Immunodeficiency 98 with autoinflammation, X-linked | 1 test |
| Infantile myofibromatosis | 1 test |
| Isolated focal cortical dysplasia type II | 2 tests |
| Joubert syndrome | 1 test |
| Keratitis ichthyosis and deafness syndrome | 1 test |
| LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS | 1 test |
| Left ventricular noncompaction | 2 tests |
| Linear nevus sebaceous syndrome | 2 tests |
| Lissencephaly | 2 tests |
| Long QT syndrome | 3 tests |
| Lymphangiomyomatosis | 1 test |
| Lymphatic malformation | 1 test |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
| Maffucci syndrome | 2 tests |
| Marfan syndrome | 1 test |
| McCune-Albright syndrome | 1 test |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 3 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 3 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 test |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2 tests |
| Melanocytic nevus | 1 test |
| Melorheostosis | 1 test |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 test |
| Microcephaly-capillary malformation syndrome | 1 test |
| Multiple cutaneous and mucosal venous malformations | 2 tests |
| Multisystem disorder | 1 test |
| Myofibromatosis | 1 test |
| Nephronophthisis | 1 test |
| Nephrotic syndrome | 1 test |
| Neurocutaneous melanocytosis | 1 test |
| Neurodevelopmental disorder | 1 test |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 2 tests |
| Neurofibromatosis | 1 test |
| Nevus comedonicus syndrome | 2 tests |
| Noonan syndrome | 2 tests |
| Overgrowth syndrome | 1 test |
| PIK3CA related overgrowth syndrome | 2 tests |
| PTEN hamartoma tumor syndrome | 1 test |
| Parkes Weber syndrome | 1 test |
| Periventricular heterotopia with microcephaly, autosomal recessive | 2 tests |
| Periventricular nodular heterotopia | 1 test |
| Pierson syndrome | 1 test |
| Pityriasis rubra pilaris | 2 tests |
| Polycystic kidney dysplasia | 1 test |
| Porokeratosis | 2 tests |
| Porokeratosis 7, multiple types | 1 test |
| Primary dilated cardiomyopathy | 3 tests |
| Primary lymphedema | 1 test |
| Proteus syndrome | 2 tests |
| Pyogenic granuloma | 1 test |
| RASopathy | 3 tests |
| Rare venous malformation | 1 test |
| Renal cysts and diabetes syndrome | 1 test |
| Renal dysplasia and retinal aplasia | 1 test |
| Renal hypoplasia | 1 test |
| Renal-hepatic-pancreatic dysplasia | 1 test |
| Renotubular dysgenesis | 1 test |
| Segmental overgrowth | 1 test |
| Severe neonatal-onset encephalopathy with microcephaly | 1 test |
| Short QT syndrome | 2 tests |
| Spindle cell hemangioma | 1 test |
| Sturge-Weber syndrome | 1 test |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 test |
| Thrombotic microangiopathy | 1 test |
| Tuberous sclerosis syndrome | 2 tests |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 1 test |
| Usher syndrome type 2A | 1 test |
| VEXAS syndrome | 2 tests |
| Van Maldergem syndrome | 1 test |
| Vascular anomaly | 2 tests |
| Verrucous hemangioma | 1 test |
| sporadic cutaneous verruciform xanthoma | 1 test |