Greenwood Genetic Center Diagnostic Laboratories (Greenwood Genetic Center)
General information
Greenwood Genetic Center Diagnostic Laboratories
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood
South Carolina
United States - 29646
https://www.ggc.org/diagnostic-lab
Organization ID: 1019
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood
South Carolina
United States - 29646
https://www.ggc.org/diagnostic-lab
Organization ID: 1019
Personnel
- Julie Jones, Lab Director
Phone: 864-678-7885
Email: juliejones@ggc.org - Raymond Caylor, Lab Director
Phone: 864-941-8171
Email: rcaylor@ggc.org - Alex Finley, Genetic Counselor
Phone: 864-941-8102
Email: afinley@ggc.org - Falecia Thomas, Genetic Counselor
Phone: 864-941-8190
Email: fthomas@ggc.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 4909
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAAS | 3 | Dec 12, 2025 |
| AADAT | 1 | May 13, 2026 |
| AARS1 | 1 | Feb 10, 2022 |
| AASS | 1 | Feb 10, 2022 |
| ABCA1 | 1 | Feb 10, 2022 |
| ABCA2 | 3 | Jan 18, 2023 |
| ABCA3 | 1 | May 26, 2023 |
| ABCA4 | 2 | Mar 31, 2026 |
| ABCB4 | 1 | Feb 2, 2024 |
| ABCB6 | 2 | Feb 19, 2025 |
| ABCC6 | 4 | Feb 19, 2025 |
| ABCC8 | 4 | Mar 31, 2026 |
| ABCC9 | 1 | Apr 11, 2022 |
| ABCD1 | 5 | Dec 12, 2025 |
| ABHD16A | 2 | May 13, 2026 |
| ABL1 | 1 | Dec 12, 2025 |
| ABR | 1 | Oct 17, 2023 |
| ACADM | 5 | Dec 12, 2025 |
| ACADS | 3 | Mar 31, 2026 |
| ACADVL | 6 | May 13, 2026 |
| ACAN | 1 | Oct 17, 2023 |
| ACAT1 | 1 | May 26, 2023 |
| ACIN1 | 1 | May 9, 2024 |
| ACO2 | 1 | May 13, 2026 |
| ACOX1 | 3 | Feb 2, 2024 |
| ACSF3 | 4 | May 9, 2024 |
| ACSL4 | 3 | May 9, 2024 |
| ACTA1 | 4 | Feb 19, 2025 |
| ACTA2 | 3 | Aug 20, 2024 |
| ACTA2-AS1 | 1 | Aug 20, 2024 |
| ACTB | 2 | Jul 12, 2022 |
| ACTC1 | 1 | Dec 12, 2025 |
| ACTG1 | 1 | Oct 14, 2022 |
| ACTL6B | 1 | Mar 31, 2026 |
| ACTN4 | 1 | May 13, 2026 |
| ACVR1 | 1 | Feb 19, 2025 |
| ACVRL1 | 3 | Oct 14, 2022 |
| ADAM11 | 1 | May 9, 2024 |
| ADAMTS13 | 1 | Feb 10, 2022 |
| ADAMTSL1 | 1 | Jul 12, 2022 |
| ADAMTSL2 | 2 | Feb 10, 2022 |
| ADAR | 1 | Feb 19, 2025 |
| ADARB1 | 1 | May 26, 2023 |
| ADAT3 | 1 | Feb 10, 2022 |
| ADCY2 | 2 | Mar 31, 2026 |
| ADCY5 | 4 | May 13, 2026 |
| ADGRB3 | 1 | Aug 20, 2024 |
| ADGRL1 | 6 | May 13, 2026 |
| ADGRL1-AS1 | 6 | May 13, 2026 |
| ADGRV1 | 3 | Mar 31, 2026 |
| ADK | 1 | Mar 31, 2026 |
| ADNP | 7 | Feb 19, 2025 |
| AFF2 | 3 | Dec 12, 2025 |
| AFF3 | 2 | May 13, 2026 |
| AFF4 | 7 | Mar 31, 2026 |
| AFG2A | 1 | Feb 10, 2022 |
| AGA | 2 | Jul 12, 2022 |
| AGA-DT | 1 | Jul 12, 2022 |
| AGAP2 | 1 | Oct 14, 2022 |
| AGBL1 | 1 | Feb 10, 2022 |
| AGGF1 | 1 | Mar 31, 2026 |
| AGL | 6 | Jul 17, 2023 |
| AGO1 | 5 | Feb 19, 2025 |
| AGO2 | 2 | Feb 19, 2025 |
| AGO3 | 1 | Dec 18, 2020 |
| AGT | 1 | Dec 12, 2025 |
| AGTPBP1 | 1 | Dec 18, 2020 |
| AGXT | 2 | May 13, 2026 |
| AHCTF1 | 1 | Feb 19, 2025 |
| AHCY | 1 | Feb 10, 2022 |
| AHDC1 | 6 | Mar 31, 2026 |
| AHI1 | 2 | Dec 12, 2025 |
| AIFM1 | 1 | Apr 13, 2021 |
| AIMP1 | 1 | Feb 10, 2022 |
| AIMP2 | 1 | Jan 18, 2023 |
| AIRE | 3 | Mar 31, 2026 |
| AKIRIN2 | 1 | Dec 12, 2025 |
| ALAD | 2 | Jan 18, 2023 |
| ALDH18A1 | 2 | Jul 12, 2022 |
| ALDH7A1 | 1 | Feb 10, 2022 |
| ALDOB | 1 | Feb 10, 2022 |
| ALG11 | 2 | Oct 14, 2022 |
| ALG12 | 4 | May 13, 2026 |
| ALG13 | 2 | Oct 14, 2022 |
| ALG14 | 3 | Mar 31, 2026 |
| ALG3 | 2 | Dec 18, 2020 |
| ALG8 | 2 | Feb 2, 2024 |
| ALKBH8 | 6 | Dec 12, 2025 |
| ALMS1 | 2 | Dec 12, 2025 |
| ALOX12B | 2 | Mar 31, 2026 |
| ALPK1 | 1 | May 26, 2023 |
| ALPL | 6 | Dec 12, 2025 |
| ALX4 | 1 | Feb 10, 2022 |
| AMER1 | 1 | Dec 18, 2020 |
| AMH | 1 | Dec 12, 2025 |
| AMIGO1 | 1 | Apr 11, 2022 |
| AMMECR1 | 1 | May 13, 2026 |
| AMPD1 | 2 | Feb 2, 2024 |
| AMT | 1 | Mar 31, 2026 |
| ANGPTL1 | 2 | May 9, 2024 |
| ANK2 | 1 | May 13, 2026 |
| ANK3 | 10 | May 13, 2026 |
| ANKHD1 | 1 | May 9, 2024 |
| ANKHD1-EIF4EBP3 | 1 | May 9, 2024 |
| ANKRD11 | 13 | Mar 31, 2026 |
| ANKRD17 | 5 | Feb 2, 2024 |
| ANKS4B | 1 | Oct 17, 2023 |
| ANO1 | 1 | May 13, 2026 |
| ANO10 | 2 | Feb 2, 2024 |
| ANP32A | 1 | Apr 11, 2022 |
| AP1G1 | 1 | Feb 19, 2025 |
| AP1S1 | 2 | Feb 19, 2025 |
| AP2M1 | 1 | Mar 31, 2026 |
| AP2S1 | 1 | Feb 19, 2025 |
| AP4M1 | 2 | May 26, 2023 |
| AP5S1 | 1 | Feb 2, 2024 |
| AP5Z1 | 1 | May 26, 2023 |
| APAF1 | 1 | Dec 12, 2025 |
| APC | 2 | Feb 19, 2025 |
| APC2 | 5 | Oct 17, 2023 |
| APOB | 11 | May 13, 2026 |
| APOE | 2 | Feb 19, 2025 |
| APOO | 1 | Dec 12, 2025 |
| AR | 1 | Feb 19, 2025 |
| ARF1 | 1 | Feb 19, 2025 |
| ARFGEF1 | 4 | May 9, 2024 |
| ARHGAP31 | 4 | May 13, 2026 |
| ARHGAP32 | 1 | Feb 19, 2025 |
| ARHGAP35 | 2 | Mar 31, 2026 |
| ARHGAP44 | 1 | Feb 2, 2024 |
| ARHGEF18 | 1 | Mar 31, 2026 |
| ARHGEF2 | 2 | Mar 31, 2026 |
| ARHGEF9 | 1 | Dec 12, 2025 |
| ARID1A | 10 | May 13, 2026 |
| ARID1B | 16 | Mar 31, 2026 |
| ARID2 | 3 | Jul 17, 2023 |
| ARID3A | 1 | May 26, 2023 |
| ARID5B | 1 | Jul 12, 2022 |
| ARIH1 | 1 | May 13, 2026 |
| ARL13B | 1 | Feb 10, 2022 |
| ARL17A | 1 | Jul 12, 2022 |
| ARL6 | 1 | Feb 19, 2025 |
| ARMC8 | 1 | Feb 10, 2022 |
| ARMC9 | 4 | May 13, 2026 |
| ARMCX5-GPRASP2 | 2 | Dec 12, 2025 |
| ARPC4 | 1 | Aug 20, 2024 |
| ARPC4-TTLL3 | 1 | Aug 20, 2024 |
| ARSA | 2 | Aug 20, 2024 |
| ARSL | 2 | Jun 22, 2026 |
| ARV1 | 1 | Apr 11, 2022 |
| ARX | 2 | Jul 17, 2023 |
| ASH1L | 13 | May 13, 2026 |
| ASIC3 | 2 | Jul 12, 2022 |
| ASIC4-AS1 | 1 | Jul 17, 2023 |
| ASL | 2 | May 26, 2023 |
| ASPA | 2 | Dec 12, 2025 |
| ASPHD2 | 1 | May 9, 2024 |
| ASPM | 7 | Mar 31, 2026 |
| ASS1 | 1 | Dec 12, 2025 |
| ASXL1 | 4 | Dec 12, 2025 |
| ASXL2 | 7 | Dec 12, 2025 |
| ASXL3 | 8 | Feb 19, 2025 |
| ATAD3A | 3 | Mar 31, 2026 |
| ATG2A | 1 | Jul 17, 2023 |
| ATIC | 2 | Oct 17, 2023 |
| ATM | 14 | May 13, 2026 |
| ATN1 | 1 | May 13, 2026 |
| ATP10A | 1 | Feb 10, 2022 |
| ATP1A2 | 3 | Feb 19, 2025 |
| ATP1A3 | 4 | May 13, 2026 |
| ATP2B1 | 4 | May 13, 2026 |
| ATP2B2 | 3 | Aug 20, 2024 |
| ATP2B3 | 1 | Apr 11, 2022 |
| ATP2B4 | 1 | May 9, 2024 |
| ATP2C1 | 1 | Mar 31, 2026 |
| ATP6AP2 | 2 | Aug 20, 2024 |
| ATP6V0A4 | 1 | Feb 10, 2022 |
| ATP6V0C | 1 | Oct 14, 2022 |
| ATP7A | 2 | Dec 12, 2025 |
| ATP7B | 5 | Dec 12, 2025 |
| ATP8B1 | 1 | Jan 18, 2023 |
| ATP9A | 2 | Oct 17, 2023 |
| ATRX | 8 | Feb 19, 2025 |
| ATXN1 | 1 | May 13, 2026 |
| ATXN7L2 | 1 | Aug 20, 2024 |
| ATXN7L3-AS1 | 2 | Aug 20, 2024 |
| AUTS2 | 6 | May 9, 2024 |
| AVIL | 1 | Aug 20, 2024 |
| AXIN2 | 1 | Jul 17, 2023 |
| B3GLCT | 1 | May 26, 2023 |
| B9D1 | 1 | Feb 19, 2025 |
| BACH2 | 1 | Jul 12, 2022 |
| BAP1 | 1 | Oct 17, 2023 |
| BAZ2B | 5 | Dec 12, 2025 |
| BBS1 | 1 | Jul 12, 2022 |
| BBS12 | 1 | Dec 12, 2025 |
| BBS2 | 1 | Mar 31, 2026 |
| BBS4 | 2 | Mar 31, 2026 |
| BCL11A | 7 | Mar 31, 2026 |
| BCL11B | 3 | Feb 19, 2025 |
| BCLAF3 | 1 | Dec 12, 2025 |
| BCOR | 3 | May 9, 2024 |
| BCORL1 | 10 | May 7, 2026 |
| BDP1 | 1 | Feb 19, 2025 |
| BEST1 | 1 | Mar 31, 2026 |
| BFSP1 | 1 | Aug 20, 2024 |
| BICRA | 6 | Mar 31, 2026 |
| BLM | 2 | Feb 19, 2025 |
| BLTP1 | 3 | May 9, 2024 |
| BMP4 | 1 | Oct 14, 2022 |
| BMPER | 1 | Feb 19, 2025 |
| BMPR2 | 4 | Mar 31, 2026 |
| BNC2 | 1 | Jul 17, 2023 |
| BOLA3 | 1 | Jul 12, 2022 |
| BPTF | 5 | Feb 2, 2024 |
| BRAF | 11 | May 13, 2026 |
| BRAT1 | 7 | Feb 19, 2025 |
| BRCA1 | 8 | May 13, 2026 |
| BRCA2 | 14 | Mar 31, 2026 |
| BRD1 | 1 | Mar 31, 2026 |
| BRD3 | 1 | Mar 31, 2026 |
| BRD4 | 2 | May 13, 2026 |
| BRF1 | 4 | Apr 11, 2022 |
| BRIP1 | 7 | Mar 31, 2026 |
| BRPF1 | 6 | May 13, 2026 |
| BRPF3 | 1 | Jul 17, 2023 |
| BRSK2 | 1 | Oct 17, 2023 |
| BRWD1 | 1 | Feb 19, 2025 |
| BRWD3 | 9 | May 13, 2026 |
| BSCL2 | 1 | Jul 12, 2022 |
| BSN | 4 | Mar 31, 2026 |
| BTD | 4 | Jun 16, 2026 |
| BUB1B | 2 | Apr 11, 2022 |
| BUB1B-PAK6 | 1 | Apr 11, 2022 |
| C11orf65 | 4 | Mar 31, 2026 |
| C17orf107 | 3 | Dec 12, 2025 |
| C1R | 2 | Oct 17, 2023 |
| CA5A | 3 | Dec 12, 2025 |
| CABP4 | 1 | Oct 17, 2023 |
| CACNA1A | 16 | May 13, 2026 |
| CACNA1C | 6 | Mar 31, 2026 |
| CACNA1C-AS1 | 2 | Aug 20, 2024 |
| CACNA1D | 2 | Dec 12, 2025 |
| CACNA1E | 5 | May 7, 2026 |
| CACNA1F | 1 | Aug 20, 2024 |
| CACNA1G | 2 | May 13, 2026 |
| CACNA1I | 2 | Feb 19, 2025 |
| CACNA1S | 1 | May 7, 2026 |
| CACNA2D2 | 3 | Jul 12, 2022 |
| CACNA2D3 | 1 | Mar 31, 2026 |
| CACNG2 | 1 | Feb 2, 2024 |
| CACNG3 | 1 | Feb 19, 2025 |
| CAD | 6 | May 13, 2026 |
| CAMK2B | 2 | Mar 31, 2026 |
| CAMK2D | 1 | Dec 12, 2025 |
| CAMK2G | 3 | May 7, 2026 |
| CAMSAP3 | 1 | Aug 20, 2024 |
| CAMTA1 | 11 | Dec 12, 2025 |
| CAMTA2 | 1 | Feb 19, 2025 |
| CAPN3 | 2 | Aug 20, 2024 |
| CAPRIN1 | 1 | May 13, 2026 |
| CASK | 5 | Dec 12, 2025 |
| CASK-AS1 | 1 | Jul 12, 2022 |
| CASR | 4 | Mar 31, 2026 |
| CAV1 | 1 | Mar 31, 2026 |
| CAVIN1 | 1 | Dec 12, 2025 |
| CBL | 5 | Feb 19, 2025 |
| CBS | 3 | Mar 31, 2026 |
| CC2D1A | 4 | May 26, 2023 |
| CC2D2A | 5 | Aug 20, 2024 |
| CCDC22 | 3 | Dec 12, 2025 |
| CCDC39 | 1 | May 13, 2026 |
| CCDC85C | 2 | Aug 20, 2024 |
| CCDC88C | 2 | May 9, 2024 |
| CCDST | 20 | Feb 19, 2025 |
| CCND2 | 1 | Feb 19, 2025 |
| CCND2-AS1 | 1 | Feb 19, 2025 |
| CCNF | 1 | Nov 1, 2024 |
| CCNH | 2 | Feb 19, 2025 |
| CCNK | 2 | Aug 20, 2024 |
| CCNL1 | 1 | Mar 31, 2026 |
| CD36 | 1 | Feb 19, 2025 |
| CDAN1 | 2 | Feb 19, 2025 |
| CDC42 | 1 | Oct 17, 2023 |
| CDC42BPB | 6 | Feb 19, 2025 |
| CDH11 | 1 | Jul 17, 2023 |
| CDH13 | 1 | May 9, 2024 |
| CDH15 | 4 | Mar 31, 2026 |
| CDH2 | 2 | Mar 31, 2026 |
| CDH23 | 1 | Feb 2, 2024 |
| CDK13 | 6 | Dec 12, 2025 |
| CDK16 | 1 | Jul 12, 2022 |
| CDK19 | 1 | Feb 19, 2025 |
| CDK8 | 3 | Oct 17, 2023 |
| CDKL5 | 2 | Dec 12, 2025 |
| CDKN1C | 2 | Feb 19, 2025 |
| CDON | 1 | Feb 10, 2022 |
| CECR2 | 1 | Jul 12, 2022 |
| CELF2 | 2 | Aug 20, 2024 |
| CELF2-AS1 | 1 | Feb 10, 2022 |
| CELF3 | 1 | Dec 18, 2020 |
| CELF4 | 1 | Jul 17, 2023 |
| CENPF | 1 | May 13, 2026 |
| CEP192 | 1 | Aug 20, 2024 |
| CEP290 | 7 | Dec 12, 2025 |
| CEP85L | 2 | Mar 31, 2026 |
| CERT1 | 1 | Jan 18, 2023 |
| CFAP144 | 2 | Oct 14, 2022 |
| CFAP418 | 1 | Mar 31, 2026 |
| CFAP53 | 1 | Feb 19, 2025 |
| CFTR | 17 | May 13, 2026 |
| CFTR-AS1 | 4 | Feb 19, 2025 |
| CFTR-AS2 | 3 | Oct 17, 2023 |
| CHAMP1 | 5 | Jan 18, 2023 |
| CHD1 | 6 | Dec 12, 2025 |
| CHD2 | 3 | Feb 19, 2025 |
| CHD3 | 13 | Dec 12, 2025 |
| CHD4 | 11 | Dec 12, 2025 |
| CHD4-AS1 | 4 | Feb 2, 2024 |
| CHD5 | 4 | Dec 12, 2025 |
| CHD6 | 1 | Feb 10, 2022 |
| CHD7 | 14 | May 13, 2026 |
| CHD8 | 11 | May 13, 2026 |
| CHEK2 | 9 | Dec 12, 2025 |
| CHMP1A | 1 | Feb 2, 2024 |
| CHRNA1 | 1 | Feb 19, 2025 |
| CHRNE | 4 | Dec 12, 2025 |
| CIC | 14 | May 13, 2026 |
| CKAP2L | 1 | May 9, 2024 |
| CKAP5 | 1 | Feb 19, 2025 |
| CLCN1 | 15 | May 13, 2026 |
| CLCN3 | 4 | Mar 31, 2026 |
| CLCN4 | 4 | Feb 19, 2025 |
| CLCN5 | 3 | May 13, 2026 |
| CLCN6 | 3 | Mar 31, 2026 |
| CLCN7 | 2 | Feb 19, 2025 |
| CLCNKB | 2 | Dec 18, 2020 |
| CLDN14 | 2 | Mar 31, 2026 |
| CLDN14-AS1 | 2 | Mar 31, 2026 |
| CLDN2 | 1 | May 13, 2026 |
| CLIC2 | 1 | Apr 11, 2022 |
| CLIP2 | 3 | Feb 19, 2025 |
| CLN6 | 2 | Aug 7, 2020 |
| CLN8 | 2 | Jan 18, 2023 |
| CLPB | 1 | May 13, 2026 |
| CLTC | 9 | Mar 31, 2026 |
| CNKSR2 | 3 | Dec 12, 2025 |
| CNOT1 | 8 | Dec 12, 2025 |
| CNOT3 | 2 | Dec 12, 2025 |
| CNPY3-GNMT | 2 | Feb 10, 2022 |
| CNTN6 | 1 | Apr 11, 2022 |
| CNTNAP1 | 1 | Feb 19, 2025 |
| CNTNAP2 | 4 | Feb 2, 2024 |
| CNTNAP5 | 2 | Feb 2, 2024 |
| COASY | 1 | Jul 12, 2022 |
| COG4 | 1 | Mar 31, 2026 |
| COG5 | 3 | May 13, 2026 |
| COG6 | 2 | Feb 19, 2025 |
| COL10A1 | 1 | May 9, 2024 |
| COL11A1 | 1 | Jul 17, 2023 |
| COL11A2 | 1 | Dec 12, 2025 |
| COL12A1 | 2 | Feb 19, 2025 |
| COL17A1 | 2 | Oct 14, 2022 |
| COL18A1 | 2 | Feb 10, 2022 |
| COL1A1 | 9 | May 13, 2026 |
| COL1A2 | 3 | May 13, 2026 |
| COL2A1 | 10 | Feb 19, 2025 |
| COL3A1 | 1 | Jul 17, 2023 |
| COL4A1 | 11 | May 13, 2026 |
| COL4A2 | 5 | Jan 18, 2023 |
| COL4A2-AS1 | 1 | Feb 10, 2022 |
| COL4A3 | 5 | Feb 19, 2025 |
| COL4A4 | 6 | May 9, 2024 |
| COL4A5 | 5 | Oct 17, 2023 |
| COL4A6 | 2 | Mar 31, 2026 |
| COL5A1 | 2 | May 9, 2024 |
| COL5A2 | 6 | Dec 12, 2025 |
| COL6A2 | 5 | May 13, 2026 |
| COL6A3 | 5 | May 13, 2026 |
| COL9A1 | 2 | Mar 31, 2026 |
| COMP | 1 | May 7, 2026 |
| COPA | 1 | May 9, 2024 |
| COQ4 | 2 | Aug 20, 2024 |
| COQ7 | 1 | May 26, 2023 |
| COX10 | 1 | Dec 18, 2020 |
| COX20 | 1 | Mar 31, 2026 |
| CPLANE1 | 7 | Mar 31, 2026 |
| CPT1C | 1 | May 7, 2026 |
| CPT2 | 4 | Mar 31, 2026 |
| CR2 | 1 | Mar 31, 2026 |
| CRACR2A | 1 | Jul 12, 2022 |
| CRB1 | 1 | Jul 17, 2023 |
| CREBBP | 13 | Dec 12, 2025 |
| CRIPTO | 1 | May 26, 2023 |
| CRMP1 | 1 | Oct 14, 2022 |
| CRNN | 1 | Oct 17, 2023 |
| CRPPA | 3 | May 7, 2026 |
| CRPPA-AS1 | 1 | Jul 17, 2023 |
| CRTC2 | 1 | Feb 10, 2022 |
| CRYAB | 1 | Aug 20, 2024 |
| CRYBA1 | 1 | Feb 10, 2022 |
| CSDE1 | 2 | Feb 10, 2022 |
| CSF1R | 1 | Feb 10, 2022 |
| CSMD1 | 3 | May 13, 2026 |
| CSNK2A1 | 4 | Feb 19, 2025 |
| CSNK2B | 3 | Feb 10, 2022 |
| CSPP1 | 1 | Feb 10, 2022 |
| CST6 | 1 | Feb 10, 2022 |
| CSTF2 | 1 | Dec 12, 2025 |
| CTBP1 | 1 | Feb 10, 2022 |
| CTCF | 6 | Feb 19, 2025 |
| CTDP1 | 1 | Jul 12, 2022 |
| CTDSPL2 | 2 | Jul 12, 2022 |
| CTNNB1 | 3 | Feb 19, 2025 |
| CTNND2 | 3 | Jul 17, 2023 |
| CTNS | 2 | Mar 31, 2026 |
| CTNS-AS1 | 2 | Mar 31, 2026 |
| CTPS1 | 1 | Apr 11, 2022 |
| CTXN2-AS1 | 1 | Feb 10, 2022 |
| CUBN | 4 | May 13, 2026 |
| CUL1 | 1 | May 26, 2023 |
| CUL3 | 4 | May 13, 2026 |
| CUL4B | 6 | Mar 31, 2026 |
| CUL5 | 1 | May 13, 2026 |
| CUL7 | 4 | Jul 17, 2023 |
| CUX1 | 3 | Aug 20, 2024 |
| CUX2 | 2 | Jul 17, 2023 |
| CYB561D2 | 2 | Jul 12, 2022 |
| CYFIP2 | 3 | Aug 20, 2024 |
| CYLD | 1 | Feb 10, 2022 |
| CYP11A1 | 1 | Jul 17, 2023 |
| CYP11B1 | 1 | Oct 17, 2023 |
| CYP21A2 | 6 | Feb 2, 2024 |
| CYP24A1 | 2 | May 9, 2024 |
| CYP2U1 | 2 | Jul 12, 2022 |
| CYP51A1 | 2 | Oct 17, 2023 |
| DAB2IP | 1 | Feb 10, 2022 |
| DAG1 | 1 | Feb 19, 2025 |
| DAGLA | 1 | Feb 19, 2025 |
| DARS1 | 1 | Feb 19, 2025 |
| DBP | 1 | Feb 19, 2025 |
| DBT | 1 | Feb 10, 2022 |
| DCAF5 | 1 | Feb 19, 2025 |
| DCC | 4 | Feb 2, 2024 |
| DCDC2 | 1 | Oct 8, 2024 |
| DCHS1 | 1 | Dec 12, 2025 |
| DCLRE1C | 1 | Feb 19, 2025 |
| DCX | 1 | Feb 10, 2022 |
| DDB1 | 2 | Oct 14, 2022 |
| DDHD1 | 1 | May 7, 2026 |
| DDX23 | 8 | May 26, 2023 |
| DDX3X | 7 | May 13, 2026 |
| DDX42 | 1 | Oct 17, 2023 |
| DDX6 | 1 | Jul 12, 2022 |
| DEAF1 | 5 | Dec 12, 2025 |
| DENND5B | 1 | Oct 14, 2022 |
| DENND6B | 1 | May 13, 2026 |
| DEPDC5 | 3 | Mar 31, 2026 |
| DES | 1 | Mar 31, 2026 |
| DGKA | 1 | Feb 19, 2025 |
| DHCR7 | 10 | May 13, 2026 |
| DHDDS | 2 | Oct 17, 2023 |
| DHPS | 2 | Jan 18, 2023 |
| DHTKD1 | 1 | Oct 14, 2022 |
| DHX16 | 1 | Oct 17, 2023 |
| DHX30 | 2 | Dec 12, 2025 |
| DHX37 | 1 | Feb 10, 2022 |
| DHX9 | 4 | May 13, 2026 |
| DHX9-AS1 | 1 | May 13, 2026 |
| DIDO1 | 1 | Dec 12, 2025 |
| DIP2B | 1 | Oct 14, 2022 |
| DIP2C | 2 | May 13, 2026 |
| DISP1 | 1 | Mar 31, 2026 |
| DKC1 | 1 | Dec 12, 2025 |
| DLG3 | 6 | Oct 17, 2023 |
| DLG4 | 5 | Mar 31, 2026 |
| DLL1 | 6 | Dec 12, 2025 |
| DLL3 | 2 | Jul 17, 2023 |
| DLX6 | 1 | Mar 31, 2026 |
| DLX6-AS1 | 1 | Mar 31, 2026 |
| DMAP1 | 2 | Oct 14, 2022 |
| DMD | 8 | May 13, 2026 |
| DMP1-AS1 | 1 | Oct 17, 2023 |
| DMXL2 | 1 | Feb 19, 2025 |
| DNA2 | 1 | Feb 19, 2025 |
| DNAAF5 | 1 | Aug 20, 2024 |
| DNAH1 | 6 | May 7, 2026 |
| DNAH11 | 4 | Mar 31, 2026 |
| DNAH14 | 10 | May 13, 2026 |
| DNAH5 | 3 | May 7, 2026 |
| DNAH5-AS1 | 1 | Apr 11, 2022 |
| DNAH8 | 1 | May 7, 2026 |
| DNAH8-AS1 | 1 | May 7, 2026 |
| DNAH9 | 1 | May 13, 2026 |
| DNAI1 | 2 | May 26, 2023 |
| DNAI2 | 2 | May 7, 2026 |
| DNAJC6 | 1 | Apr 11, 2022 |
| DNAJC9 | 3 | Dec 12, 2025 |
| DNASE1L1 | 1 | Dec 12, 2025 |
| DNM1 | 1 | Dec 12, 2025 |
| DNM1L | 1 | Feb 19, 2025 |
| DNM2 | 2 | Mar 31, 2026 |
| DNMT1 | 1 | Feb 10, 2022 |
| DNMT3A | 5 | Feb 19, 2025 |
| DOCK3 | 3 | Jul 17, 2023 |
| DOCK6 | 1 | Apr 11, 2022 |
| DOCK6-AS1 | 1 | Apr 11, 2022 |
| DOHH | 1 | Jul 17, 2023 |
| DONSON | 1 | Feb 10, 2022 |
| DOT1L | 1 | Feb 10, 2022 |
| DPF2 | 1 | Apr 11, 2022 |
| DPH1 | 1 | Apr 11, 2022 |
| DPH2 | 1 | Mar 31, 2026 |
| DPM1 | 2 | Aug 20, 2024 |
| DPP6 | 2 | Feb 19, 2025 |
| DPP9 | 3 | Dec 12, 2025 |
| DRC1 | 3 | May 13, 2026 |
| DRC4 | 1 | May 7, 2026 |
| DROSHA | 1 | Dec 18, 2020 |
| DSC2 | 1 | Mar 31, 2026 |
| DSG1-AS1 | 1 | Dec 18, 2020 |
| DSG2 | 1 | May 13, 2026 |
| DSG2-AS1 | 1 | May 13, 2026 |
| DSG4 | 1 | Dec 18, 2020 |
| DSP | 4 | May 13, 2026 |
| DSPP | 1 | Oct 17, 2023 |
| DST | 2 | Aug 20, 2024 |
| DSTYK | 1 | May 9, 2024 |
| DTHD1 | 1 | Oct 17, 2023 |
| DUOX2 | 3 | Dec 12, 2025 |
| DVL3 | 1 | May 9, 2024 |
| DYNC1H1 | 15 | Dec 12, 2025 |
| DYNC2H1 | 5 | May 26, 2023 |
| DYRK1A | 15 | May 13, 2026 |
| EBF1 | 1 | Jul 17, 2023 |
| EBF3 | 4 | May 13, 2026 |
| EBP | 1 | Apr 11, 2022 |
| ECEL1 | 2 | Apr 11, 2022 |
| EDA | 9 | Feb 19, 2025 |
| EDAR | 2 | Feb 2, 2024 |
| EDEM3 | 1 | Mar 31, 2026 |
| EDN3 | 1 | Aug 20, 2024 |
| EDNRB | 2 | Dec 12, 2025 |
| EDNRB-AS1 | 1 | May 26, 2023 |
| EED | 1 | Feb 19, 2025 |
| EEF1A2 | 3 | Feb 19, 2025 |
| EEF2 | 2 | May 13, 2026 |
| EFCAB7 | 2 | Feb 19, 2025 |
| EFHC1 | 2 | May 13, 2026 |
| EFHC2 | 1 | May 9, 2024 |
| EFNB1 | 4 | May 13, 2026 |
| EFTUD2 | 4 | Dec 12, 2025 |
| EGR2 | 1 | Feb 10, 2022 |
| EHMT1 | 8 | Dec 12, 2025 |
| EHMT2-AS1 | 1 | Feb 10, 2022 |
| EIF2AK2 | 1 | Jul 12, 2022 |
| EIF2AK4 | 3 | Mar 31, 2026 |
| EIF2B5 | 1 | Feb 10, 2022 |
| EIF2S3 | 1 | Oct 17, 2023 |
| EIF3F | 3 | Feb 2, 2024 |
| EIF4A2 | 1 | Oct 17, 2023 |
| ELAVL3 | 1 | Jul 17, 2023 |
| ELAVL4 | 1 | Feb 10, 2022 |
| ELN | 2 | Dec 12, 2025 |
| ELN-AS1 | 1 | Jul 12, 2022 |
| ELP2 | 5 | Mar 31, 2026 |
| ELP4 | 1 | Jan 18, 2023 |
| EMC1 | 1 | Oct 17, 2023 |
| EMC1-AS1 | 1 | Oct 17, 2023 |
| EME2 | 1 | Feb 10, 2022 |
| EMILIN1 | 1 | May 9, 2024 |
| EML1 | 2 | May 9, 2024 |
| EML6 | 1 | Oct 14, 2022 |
| ENG | 3 | Jan 18, 2023 |
| EP300 | 4 | Aug 20, 2024 |
| EP400 | 5 | May 13, 2026 |
| EPB41L1 | 2 | Feb 19, 2025 |
| EPB41L3 | 1 | Dec 12, 2025 |
| EPB41L4B | 1 | Jul 17, 2023 |
| EPG5 | 2 | Feb 19, 2025 |
| EPHB4 | 2 | Jan 18, 2023 |
| EPM2A | 1 | May 13, 2026 |
| EPRS1 | 4 | Aug 20, 2024 |
| ERBB4 | 2 | Feb 19, 2025 |
| ERCC1 | 1 | Feb 10, 2022 |
| ERCC2 | 2 | Oct 14, 2022 |
| ERCC6 | 4 | May 13, 2026 |
| ERF | 3 | Oct 17, 2023 |
| ESPN | 2 | May 13, 2026 |
| ETFA | 2 | Mar 31, 2026 |
| ETFB | 1 | Mar 31, 2026 |
| ETFDH | 2 | Oct 14, 2022 |
| ETV6 | 1 | May 13, 2026 |
| EXOC2 | 1 | Feb 19, 2025 |
| EXOC7 | 2 | Feb 2, 2024 |
| EXOSC2 | 2 | Dec 12, 2025 |
| EXOSC3 | 1 | Feb 10, 2022 |
| EXOSC8 | 1 | Dec 12, 2025 |
| EXT1 | 3 | Dec 12, 2025 |
| EXT2 | 6 | May 13, 2026 |
| EYA1 | 3 | May 9, 2024 |
| EYS | 1 | Feb 2, 2024 |
| EZH2 | 2 | Oct 14, 2022 |
| F2 | 1 | Apr 11, 2022 |
| F5 | 2 | May 13, 2026 |
| F7 | 2 | Feb 10, 2022 |
| F9 | 2 | Aug 20, 2024 |
| FAH | 2 | Feb 10, 2022 |
| FAM120A | 2 | Jan 18, 2023 |
| FAM135B | 1 | May 26, 2023 |
| FAM149B1 | 4 | Dec 12, 2025 |
| FAM50A | 2 | Oct 14, 2022 |
| FANCA | 1 | Feb 10, 2022 |
| FANCF | 1 | Dec 12, 2025 |
| FANCG | 1 | Feb 10, 2022 |
| FANCI | 1 | Jan 18, 2023 |
| FAR1 | 1 | May 13, 2026 |
| FARS2 | 3 | Dec 12, 2025 |
| FARSB | 1 | Feb 10, 2022 |
| FASN | 1 | Feb 10, 2022 |
| FAT4 | 3 | Dec 12, 2025 |
| FBLN5 | 1 | Feb 19, 2025 |
| FBN1 | 13 | Mar 31, 2026 |
| FBN2 | 4 | Dec 12, 2025 |
| FBXL19 | 1 | May 9, 2024 |
| FBXL4 | 3 | Jan 18, 2023 |
| FBXL5 | 4 | Jan 18, 2023 |
| FBXO11 | 5 | May 13, 2026 |
| FBXO31 | 1 | Feb 19, 2025 |
| FBXO7 | 1 | Jan 18, 2023 |
| FBXW11 | 3 | May 13, 2026 |
| FBXW7 | 2 | May 9, 2024 |
| FCSK | 1 | Jul 12, 2022 |
| FDXR | 2 | May 13, 2026 |
| FEM1B | 1 | Dec 12, 2025 |
| FEM1C | 1 | Jan 18, 2023 |
| FGD1 | 5 | May 13, 2026 |
| FGF12 | 1 | Feb 19, 2025 |
| FGF13 | 2 | Mar 31, 2026 |
| FGF20 | 1 | Dec 12, 2025 |
| FGFR1 | 2 | Feb 19, 2025 |
| FGFR2 | 4 | Aug 20, 2024 |
| FGFR3 | 3 | May 9, 2024 |
| FH | 3 | Feb 19, 2025 |
| FIBCD1 | 2 | May 26, 2023 |
| FIG4 | 3 | Feb 19, 2025 |
| FKBP14 | 1 | Feb 10, 2022 |
| FKBP14-AS1 | 1 | Feb 10, 2022 |
| FLG | 18 | Feb 19, 2025 |
| FLG2 | 2 | Feb 19, 2025 |
| FLNA | 5 | May 7, 2026 |
| FLNB | 2 | Mar 31, 2026 |
| FLNC | 2 | Mar 31, 2026 |
| FLNC-AS1 | 1 | Mar 31, 2026 |
| FLT4 | 1 | Feb 10, 2022 |
| FNDC7 | 1 | Oct 14, 2022 |
| FOXC1 | 1 | May 7, 2026 |
| FOXG1 | 2 | Feb 2, 2024 |
| FOXL2 | 2 | Jul 17, 2023 |
| FOXP1 | 6 | Feb 19, 2025 |
| FOXP2 | 2 | Aug 20, 2024 |
| FOXP4 | 3 | Mar 31, 2026 |
| FOXRED1 | 3 | May 13, 2026 |
| FRAS1 | 4 | Feb 19, 2025 |
| FREM1 | 1 | Dec 12, 2025 |
| FRMD5 | 2 | Feb 19, 2025 |
| FRMD7 | 1 | May 26, 2023 |
| FRMPD4 | 14 | May 13, 2026 |
| FRRS1L | 1 | Mar 31, 2026 |
| FRYL | 3 | Dec 12, 2025 |
| FTSJ1 | 1 | May 9, 2024 |
| FZD2 | 1 | Aug 20, 2024 |
| FZD4 | 1 | Aug 20, 2024 |
| G6PC1 | 2 | Feb 19, 2025 |
| G6PD | 3 | Mar 31, 2026 |
| GAA | 5 | Dec 12, 2025 |
| GABBR1 | 3 | May 13, 2026 |
| GABBR2 | 3 | Aug 20, 2024 |
| GABRA1 | 1 | Aug 20, 2024 |
| GABRA2 | 1 | May 13, 2025 |
| GABRA5 | 1 | Feb 10, 2022 |
| GABRB2 | 1 | Jan 5, 2026 |
| GABRB3 | 1 | Feb 19, 2025 |
| GABRE | 1 | Feb 10, 2022 |
| GABRG2 | 2 | Feb 19, 2025 |
| GALC | 2 | Jul 17, 2023 |
| GALE | 3 | Jan 18, 2023 |
| GALNS | 1 | Feb 10, 2022 |
| GALNT11 | 1 | Feb 19, 2025 |
| GALNT3 | 2 | Jul 17, 2023 |
| GALT | 3 | Feb 19, 2025 |
| GANAB | 1 | May 26, 2023 |
| GAP43 | 1 | Mar 31, 2026 |
| GAPVD1 | 1 | Feb 10, 2022 |
| GAREM2 | 1 | Feb 10, 2022 |
| GARS1 | 1 | Feb 10, 2022 |
| GATA5 | 2 | Feb 19, 2025 |
| GATA6 | 1 | Feb 10, 2022 |
| GATAD2B | 5 | Oct 17, 2023 |
| GBA1 | 6 | Mar 31, 2026 |
| GBE1 | 1 | Sep 8, 2025 |
| GBF1 | 1 | May 9, 2024 |
| GCDH | 2 | Feb 19, 2025 |
| GCLC | 1 | Feb 2, 2024 |
| GCM2 | 1 | Feb 19, 2025 |
| GDAP1 | 1 | Jul 12, 2022 |
| GDF5 | 1 | Apr 11, 2022 |
| GDF5-AS1 | 1 | Apr 11, 2022 |
| GDF9 | 1 | Dec 12, 2025 |
| GDI1 | 1 | May 9, 2024 |
| GEMIN5 | 5 | May 13, 2026 |
| GFAP | 2 | May 13, 2026 |
| GFM1 | 1 | Feb 10, 2022 |
| GH-LCR | 5 | May 13, 2026 |
| GHR | 1 | Mar 31, 2026 |
| GHSR | 1 | Jan 18, 2023 |
| GIGYF1 | 1 | Mar 31, 2026 |
| GIGYF2 | 1 | Jan 18, 2023 |
| GJA1 | 1 | Feb 10, 2022 |
| GJB1 | 2 | Feb 2, 2024 |
| GJB2 | 6 | Mar 31, 2026 |
| GJC2 | 1 | May 26, 2023 |
| GJD2-DT | 1 | Dec 12, 2025 |
| GK | 1 | Dec 12, 2025 |
| GLA | 2 | Mar 31, 2026 |
| GLB1 | 4 | Feb 19, 2025 |
| GLB1L2 | 1 | Mar 31, 2026 |
| GLDC | 2 | Oct 17, 2023 |
| GLI2 | 2 | Oct 14, 2022 |
| GLI3 | 3 | May 13, 2026 |
| GLMN | 3 | Feb 19, 2025 |
| GLRA1 | 1 | Feb 10, 2022 |
| GLRA2 | 1 | Feb 19, 2025 |
| GML | 1 | Oct 17, 2023 |
| GNAO1 | 1 | Aug 20, 2024 |
| GNAQ | 1 | Feb 19, 2025 |
| GNAS | 5 | Aug 20, 2024 |
| GNB1 | 4 | May 9, 2024 |
| GNB5 | 2 | Feb 2, 2024 |
| GNG3 | 1 | Jul 12, 2022 |
| GNMT | 2 | Feb 10, 2022 |
| GPAA1 | 1 | Aug 20, 2024 |
| GPC3 | 3 | Mar 31, 2026 |
| GPC3-AS1 | 1 | Mar 31, 2026 |
| GPR132 | 1 | May 9, 2024 |
| GPR143 | 1 | Oct 14, 2022 |
| GPRASP1 | 2 | Dec 12, 2025 |
| GPSM2 | 1 | Feb 10, 2022 |
| GREB1L | 1 | May 26, 2023 |
| GRIA1 | 5 | May 13, 2026 |
| GRIA2 | 5 | May 13, 2026 |
| GRIA3 | 6 | Feb 2, 2024 |
| GRIA4 | 3 | Feb 19, 2025 |
| GRID2 | 1 | Dec 18, 2020 |
| GRIK2 | 4 | Feb 19, 2025 |
| GRIN1 | 3 | Jul 12, 2022 |
| GRIN2A | 5 | Jul 17, 2023 |
| GRIN2B | 4 | May 13, 2026 |
| GRIN2D | 1 | Jul 12, 2022 |
| GRIP2 | 1 | May 13, 2026 |
| GRM1 | 2 | Dec 12, 2025 |
| GRM7 | 1 | Feb 10, 2022 |
| GUCY1A2 | 1 | May 9, 2024 |
| GUCY2F | 1 | Dec 12, 2025 |
| GUSB | 1 | Dec 12, 2025 |
| GYG1 | 1 | Jul 17, 2023 |
| H1-4 | 1 | Jul 17, 2023 |
| H3-3A | 1 | Dec 12, 2025 |
| H4C5 | 2 | May 9, 2024 |
| HACE1 | 1 | Feb 10, 2022 |
| HADHA | 2 | Feb 10, 2022 |
| HADHB | 2 | Feb 19, 2025 |
| HBB | 5 | Dec 12, 2025 |
| HCFC1 | 3 | Dec 12, 2025 |
| HCN1 | 5 | Mar 31, 2026 |
| HCN4 | 1 | Oct 17, 2023 |
| HDAC1 | 1 | Dec 12, 2025 |
| HDAC4 | 1 | Oct 17, 2023 |
| HDAC5 | 1 | Feb 19, 2025 |
| HDAC7 | 1 | Feb 19, 2025 |
| HDAC8 | 1 | May 26, 2023 |
| HDAC9 | 1 | Jul 12, 2022 |
| HEATR5B | 4 | Dec 12, 2025 |
| HECTD1 | 4 | Dec 12, 2025 |
| HECTD4 | 1 | Jul 17, 2023 |
| HECW2 | 5 | May 13, 2026 |
| HEPHL1 | 4 | Dec 12, 2025 |
| HERC1 | 6 | Mar 31, 2026 |
| HERC2 | 7 | Dec 12, 2025 |
| HEXB | 1 | Feb 2, 2024 |
| HFE | 2 | Jul 12, 2022 |
| HFE-AS1 | 1 | Apr 11, 2022 |
| HIVEP2 | 11 | May 13, 2026 |
| HK1 | 1 | Dec 12, 2025 |
| HLCS | 1 | Feb 10, 2022 |
| HMBS | 1 | May 13, 2026 |
| HMCN2 | 2 | Feb 19, 2025 |
| HMGXB3 | 1 | Apr 11, 2022 |
| HMX3 | 1 | Feb 10, 2022 |
| HNF1A | 1 | Mar 31, 2026 |
| HNF4A | 1 | Feb 19, 2025 |
| HNMT | 2 | Feb 2, 2024 |
| HNRNPA3 | 1 | Dec 12, 2025 |
| HNRNPC | 1 | Dec 12, 2025 |
| HNRNPDL | 1 | Dec 18, 2020 |
| HNRNPF | 1 | Jul 12, 2022 |
| HNRNPH1 | 2 | Mar 31, 2026 |
| HNRNPH2 | 2 | Feb 2, 2024 |
| HNRNPK | 1 | Dec 12, 2025 |
| HNRNPL | 1 | Jul 17, 2023 |
| HNRNPR | 2 | Dec 12, 2025 |
| HNRNPU | 3 | May 7, 2026 |
| HNRNPUL1 | 1 | Feb 2, 2024 |
| HNRNPUL2 | 1 | Oct 14, 2022 |
| HNRNPUL2-BSCL2 | 2 | Oct 14, 2022 |
| HRAS | 1 | Jul 12, 2022 |
| HS6ST2 | 1 | Oct 17, 2023 |
| HSD17B3 | 1 | Jul 17, 2023 |
| HSD17B3-AS1 | 1 | Jul 17, 2023 |
| HSD17B4 | 3 | Jul 12, 2022 |
| HSPA9 | 2 | Oct 17, 2023 |
| HSPB1 | 1 | May 9, 2024 |
| HSPD1 | 1 | May 13, 2026 |
| HSPG2 | 2 | Dec 18, 2020 |
| HTT | 1 | Feb 19, 2025 |
| HUWE1 | 22 | May 13, 2026 |
| IARS1 | 1 | Jan 18, 2023 |
| IDH1 | 2 | Oct 17, 2023 |
| IDS | 2 | Feb 19, 2025 |
| IDUA | 2 | Mar 31, 2026 |
| IFIH1 | 2 | Mar 31, 2026 |
| IFNW1 | 1 | Feb 19, 2025 |
| IFT54 | 2 | Feb 19, 2025 |
| IGF1R | 2 | Feb 2, 2024 |
| IKBKB | 1 | Feb 10, 2022 |
| IKBKE | 1 | May 13, 2026 |
| IL1RAPL1 | 7 | Mar 31, 2026 |
| IL1RAPL2 | 2 | Mar 31, 2026 |
| IL2RG | 1 | Apr 11, 2022 |
| IMMT | 1 | May 13, 2026 |
| IMPG1 | 1 | Feb 10, 2022 |
| INO80 | 1 | Feb 19, 2025 |
| INO80-AS1 | 1 | Feb 19, 2025 |
| INPP4B | 1 | Feb 19, 2025 |
| INPP5E | 1 | Feb 2, 2024 |
| INSR | 1 | Oct 14, 2022 |
| INSRR | 1 | May 13, 2026 |
| INTS1 | 3 | Mar 31, 2026 |
| INTS11 | 1 | May 13, 2026 |
| INTS6 | 1 | Jul 12, 2022 |
| INVS | 4 | Dec 12, 2025 |
| IPO9 | 1 | Jul 17, 2023 |
| IQGAP1 | 1 | Mar 31, 2026 |
| IQGAP3 | 1 | Feb 10, 2022 |
| IQSEC1 | 3 | May 7, 2026 |
| IQSEC2 | 9 | Mar 31, 2026 |
| IRAK1BP1 | 2 | May 13, 2026 |
| IRF2BP2 | 1 | Apr 11, 2022 |
| IRF2BPL | 7 | Feb 19, 2025 |
| IRF3 | 1 | Feb 19, 2025 |
| IRF6 | 1 | May 9, 2024 |
| ITGA2B | 1 | Jan 18, 2023 |
| ITGB4 | 1 | Jan 18, 2023 |
| ITPA | 1 | Feb 10, 2022 |
| ITPR1 | 2 | Feb 10, 2022 |
| ITSN1 | 5 | Dec 12, 2025 |
| IVD | 7 | Feb 19, 2025 |
| JAG1 | 1 | Oct 14, 2022 |
| JAKMIP1 | 1 | Feb 10, 2022 |
| JAM3 | 1 | Feb 2, 2024 |
| JARID2 | 2 | Feb 19, 2025 |
| JMJD1C | 7 | Dec 12, 2025 |
| JPH3 | 1 | Jan 18, 2023 |
| KANSL1 | 2 | May 26, 2023 |
| KARS1 | 1 | Jul 17, 2023 |
| KAT5 | 2 | Jul 17, 2023 |
| KAT6A | 9 | May 13, 2026 |
| KAT6B | 3 | Aug 20, 2024 |
| KAT8 | 1 | Jul 17, 2023 |
| KATNAL2 | 1 | Feb 10, 2022 |
| KATNIP | 1 | Feb 10, 2022 |
| KCNA2 | 5 | May 13, 2026 |
| KCNA3 | 1 | Feb 10, 2022 |
| KCNB1 | 6 | Mar 31, 2026 |
| KCNB2 | 1 | May 7, 2026 |
| KCNC1 | 1 | Jul 17, 2023 |
| KCNH1 | 1 | May 26, 2023 |
| KCNH2 | 4 | Mar 31, 2026 |
| KCNH3 | 1 | Dec 18, 2020 |
| KCNH4 | 1 | Jul 12, 2022 |
| KCNH5 | 2 | Mar 31, 2026 |
| KCNJ1 | 1 | Dec 10, 2020 |
| KCNJ11 | 2 | Oct 17, 2023 |
| KCNJ6 | 1 | Apr 11, 2022 |
| KCNJ6-AS1 | 1 | Apr 11, 2022 |
| KCNK9 | 2 | Feb 19, 2025 |
| KCNMA1 | 3 | Mar 31, 2026 |
| KCNN2 | 2 | Feb 19, 2025 |
| KCNN3 | 3 | Jul 12, 2022 |
| KCNQ1 | 5 | Feb 19, 2025 |
| KCNQ2 | 2 | Jul 17, 2023 |
| KCNQ3 | 3 | Dec 12, 2025 |
| KCNQ5 | 6 | May 13, 2026 |
| KCNQ5-DT | 2 | Dec 12, 2025 |
| KCNT1 | 1 | Dec 18, 2020 |
| KCNT2 | 4 | Oct 17, 2023 |
| KDM2B | 4 | May 13, 2026 |
| KDM2B-DT | 1 | Jan 18, 2023 |
| KDM3B | 8 | May 13, 2026 |
| KDM4B | 8 | Dec 12, 2025 |
| KDM5A | 3 | Feb 19, 2025 |
| KDM5B | 4 | Mar 31, 2026 |
| KDM5C | 12 | May 7, 2026 |
| KDM6A | 7 | May 13, 2026 |
| KDM6B | 22 | May 7, 2026 |
| KIAA0586 | 8 | May 7, 2026 |
| KIAA0753 | 1 | Jul 12, 2022 |
| KIDINS220 | 2 | May 7, 2026 |
| KIF13A | 1 | Feb 19, 2025 |
| KIF1A | 4 | Feb 19, 2025 |
| KIF21B | 3 | May 13, 2026 |
| KIF23 | 1 | Jan 18, 2023 |
| KIF26A | 2 | Feb 19, 2025 |
| KIF2A | 1 | Feb 10, 2022 |
| KIF4A | 3 | May 13, 2026 |
| KIF5A | 2 | Feb 19, 2025 |
| KIF5C | 1 | Feb 19, 2025 |
| KIF7 | 3 | Jul 17, 2023 |
| KIFBP | 1 | Feb 10, 2022 |
| KISS1R | 1 | Dec 12, 2025 |
| KIT | 1 | Feb 10, 2022 |
| KLC4 | 1 | Feb 10, 2022 |
| KLF7 | 2 | Mar 17, 2025 |
| KLHL15 | 2 | Dec 12, 2025 |
| KLHL20 | 1 | Apr 11, 2022 |
| KLHL7 | 1 | Feb 10, 2022 |
| KLHL9 | 1 | Oct 17, 2023 |
| KMT2A | 15 | May 13, 2026 |
| KMT2B | 10 | Dec 12, 2025 |
| KMT2C | 11 | Dec 12, 2025 |
| KMT2D | 13 | May 13, 2026 |
| KMT2E | 12 | Feb 19, 2025 |
| KMT5B | 5 | May 9, 2024 |
| KPNB1 | 1 | Dec 12, 2025 |
| KPTN | 5 | Mar 31, 2026 |
| KRAS | 7 | May 9, 2024 |
| KRIT1 | 2 | Oct 17, 2023 |
| KRT10 | 1 | Dec 12, 2025 |
| KRT5 | 1 | Feb 10, 2022 |
| KRT9 | 1 | Feb 10, 2022 |
| LALTOP | 1 | Jul 12, 2022 |
| LAMA1 | 7 | Dec 12, 2025 |
| LAMA2 | 7 | May 13, 2026 |
| LAMA3 | 3 | Mar 31, 2026 |
| LAMA5 | 3 | May 13, 2026 |
| LAMC3 | 1 | Dec 12, 2025 |
| LARP7 | 1 | May 26, 2023 |
| LAS1L | 3 | May 13, 2026 |
| LDB3 | 2 | Mar 31, 2026 |
| LDLR | 13 | May 13, 2026 |
| LEMD3 | 1 | Feb 10, 2022 |
| LEPR | 1 | Jan 18, 2023 |
| LETM1 | 1 | Feb 19, 2025 |
| LGI3 | 2 | Oct 17, 2023 |
| LHFPL3 | 1 | Jul 17, 2023 |
| LHFPL4 | 1 | Dec 12, 2025 |
| LHX2 | 2 | Aug 20, 2024 |
| LIG4 | 1 | Feb 2, 2024 |
| LIM2 | 1 | May 9, 2024 |
| LIM2-AS1 | 1 | May 9, 2024 |
| LINGO1 | 1 | Apr 11, 2022 |
| LINS1 | 5 | Feb 19, 2025 |
| LIPT1 | 1 | Jul 17, 2023 |
| LLGL2 | 1 | Oct 22, 2024 |
| LMBRD2 | 4 | Feb 2, 2024 |
| LMNA | 6 | May 13, 2026 |
| LMX1B | 2 | May 9, 2024 |
| LNPK | 1 | May 13, 2026 |
| LOC101448202 | 1 | May 9, 2024 |
| LOC101928008 | 1 | Feb 10, 2022 |
| LOC101928335 | 1 | Jul 12, 2022 |
| LOC101928965 | 1 | Jul 12, 2022 |
| LOC101929165 | 1 | May 9, 2024 |
| LOC102723566 | 2 | Jan 18, 2023 |
| LOC102724058 | 6 | Feb 19, 2025 |
| LOC105370890 | 1 | Oct 17, 2023 |
| LOC105371050 | 1 | Nov 1, 2024 |
| LOC105371566 | 1 | May 26, 2023 |
| LOC105371856 | 2 | Aug 20, 2024 |
| LOC105377785 | 1 | Dec 12, 2025 |
| LOC106099062 | 4 | Dec 12, 2025 |
| LOC106501713 | 2 | Dec 18, 2020 |
| LOC106627981 | 6 | Mar 31, 2026 |
| LOC106780800 | 6 | Feb 2, 2024 |
| LOC106799833 | 1 | Oct 17, 2023 |
| LOC107133510 | 5 | Dec 12, 2025 |
| LOC107303340 | 2 | Dec 12, 2025 |
| LOC107372315 | 3 | Apr 19, 2022 |
| LOC107652445 | 1 | May 9, 2024 |
| LOC107984638 | 1 | Jan 18, 2023 |
| LOC107988032 | 1 | Feb 2, 2024 |
| LOC108021846 | 1 | May 7, 2026 |
| LOC108281177 | 1 | Oct 17, 2023 |
| LOC110006319 | 1 | Dec 12, 2025 |
| LOC111162621 | 1 | Dec 12, 2025 |
| LOC111674472 | 1 | Oct 17, 2023 |
| LOC112694718 | 1 | Dec 12, 2025 |
| LOC113633877 | 1 | Jul 12, 2022 |
| LOC113664106 | 1 | May 13, 2026 |
| LOC113845788 | 1 | Oct 17, 2023 |
| LOC114803470 | 1 | Feb 19, 2025 |
| LOC115308161 | 1 | Oct 17, 2023 |
| LOC121587574 | 7 | Feb 19, 2025 |
| LOC121587595 | 1 | Aug 20, 2024 |
| LOC121740638 | 1 | Jan 18, 2023 |
| LOC125177393 | 1 | May 9, 2024 |
| LOC125177479 | 1 | Jul 12, 2022 |
| LOC125177523 | 1 | Feb 19, 2025 |
| LOC126805670 | 1 | Feb 10, 2022 |
| LOC126805726 | 1 | Mar 31, 2026 |
| LOC126806039 | 1 | Feb 19, 2025 |
| LOC126806172 | 1 | May 13, 2026 |
| LOC126806433 | 1 | May 26, 2023 |
| LOC126806659 | 1 | Feb 19, 2025 |
| LOC126806714 | 1 | Feb 2, 2024 |
| LOC126806798 | 1 | Jul 12, 2022 |
| LOC126806878 | 1 | May 26, 2023 |
| LOC126807318 | 1 | Apr 11, 2022 |
| LOC126807321 | 1 | Oct 17, 2023 |
| LOC126807323 | 1 | May 9, 2024 |
| LOC126807619 | 1 | Feb 10, 2022 |
| LOC126859827 | 1 | May 26, 2023 |
| LOC126859913 | 1 | Dec 12, 2025 |
| LOC126860124 | 1 | Feb 10, 2022 |
| LOC126860125 | 1 | Feb 19, 2025 |
| LOC126860130 | 2 | Oct 17, 2023 |
| LOC126860330 | 1 | May 26, 2023 |
| LOC126860545 | 1 | Jul 12, 2022 |
| LOC126860585 | 1 | Jul 17, 2023 |
| LOC126860741 | 1 | Jan 18, 2023 |
| LOC126860777 | 1 | Dec 12, 2025 |
| LOC126861110 | 1 | Dec 12, 2025 |
| LOC126861232 | 1 | Feb 10, 2022 |
| LOC126861242 | 1 | May 26, 2023 |
| LOC126861258 | 1 | May 13, 2026 |
| LOC126861451 | 1 | May 13, 2026 |
| LOC126861520 | 1 | Dec 18, 2020 |
| LOC126861542 | 1 | Oct 14, 2022 |
| LOC126861615 | 1 | Aug 20, 2024 |
| LOC126861897 | 1 | Dec 12, 2025 |
| LOC126861898 | 1 | Feb 10, 2022 |
| LOC126862173 | 1 | Oct 17, 2023 |
| LOC126862264 | 2 | Feb 19, 2025 |
| LOC126862323 | 1 | Feb 10, 2022 |
| LOC126862479 | 1 | Oct 17, 2023 |
| LOC126862481 | 1 | Jul 17, 2023 |
| LOC126862482 | 2 | May 13, 2026 |
| LOC126862484 | 1 | Feb 19, 2025 |
| LOC126862486 | 1 | Dec 12, 2025 |
| LOC126862571 | 3 | May 26, 2023 |
| LOC126862586 | 2 | May 13, 2026 |
| LOC126862611 | 1 | Aug 20, 2024 |
| LOC126862698 | 1 | Aug 20, 2024 |
| LOC126862757 | 2 | Mar 31, 2026 |
| LOC126862841 | 1 | Dec 12, 2025 |
| LOC126862876 | 1 | Jul 17, 2023 |
| LOC126862902 | 2 | May 13, 2026 |
| LOC126863262 | 2 | Feb 19, 2025 |
| LOC126863275 | 1 | Jul 17, 2023 |
| LOC126863330 | 1 | Dec 12, 2025 |
| LOC127898564 | 2 | Jul 12, 2022 |
| LOC128966623 | 2 | Mar 31, 2026 |
| LOC129389837 | 1 | May 13, 2026 |
| LOC129929837 | 1 | Feb 2, 2024 |
| LOC129930123 | 1 | May 9, 2024 |
| LOC129930989 | 1 | May 9, 2024 |
| LOC129932811 | 1 | Apr 11, 2022 |
| LOC129935730 | 1 | Feb 10, 2022 |
| LOC129936130 | 1 | May 13, 2026 |
| LOC129992137 | 1 | Jan 18, 2023 |
| LOC129993881 | 1 | Oct 17, 2023 |
| LOC129994460 | 1 | Jul 12, 2022 |
| LOC129994526 | 1 | May 26, 2023 |
| LOC129995635 | 1 | Feb 10, 2022 |
| LOC129995965 | 1 | Feb 10, 2022 |
| LOC129996027 | 1 | May 9, 2024 |
| LOC129996711 | 2 | Dec 12, 2025 |
| LOC129996744 | 1 | Feb 10, 2022 |
| LOC129997523 | 1 | Oct 17, 2023 |
| LOC129997525 | 1 | Feb 19, 2025 |
| LOC129997730 | 1 | Aug 20, 2024 |
| LOC129998021 | 2 | Dec 12, 2025 |
| LOC129998292 | 3 | Feb 19, 2025 |
| LOC130001364 | 1 | Aug 20, 2024 |
| LOC130001588 | 1 | Feb 19, 2025 |
| LOC130001960 | 1 | Dec 18, 2020 |
| LOC130003576 | 1 | Feb 10, 2022 |
| LOC130003959 | 1 | Feb 10, 2022 |
| LOC130007700 | 1 | Aug 20, 2024 |
| LOC130056160 | 1 | Jan 18, 2023 |
| LOC130060311 | 1 | Dec 18, 2020 |
| LOC130060903 | 1 | Dec 18, 2020 |
| LOC130061480 | 1 | Mar 31, 2026 |
| LOC130061940 | 1 | Oct 14, 2022 |
| LOC130064418 | 1 | Jul 17, 2023 |
| LOC130064856 | 1 | Jul 12, 2022 |
| LOC130065239 | 1 | May 13, 2026 |
| LOC130065345 | 1 | Oct 17, 2023 |
| LOC130065433 | 1 | Dec 12, 2025 |
| LOC130066166 | 1 | Aug 20, 2024 |
| LOC130067823 | 1 | Jan 18, 2023 |
| LOC130068628 | 1 | Jul 17, 2023 |
| LOC340512 | 1 | Feb 10, 2022 |
| LONRF3 | 1 | Oct 14, 2022 |
| LPIN2 | 1 | May 26, 2023 |
| LPL | 1 | Mar 31, 2026 |
| LRCH2 | 1 | Oct 17, 2023 |
| LRIG1 | 1 | Mar 31, 2026 |
| LRP1 | 1 | Feb 2, 2024 |
| LRP2 | 1 | May 9, 2024 |
| LRP4 | 1 | Feb 19, 2025 |
| LRP5 | 2 | Feb 10, 2022 |
| LRP6 | 2 | Jul 17, 2023 |
| LRRC27 | 1 | May 9, 2024 |
| LRRC37A2 | 1 | Jul 12, 2022 |
| LRRC4 | 1 | Jan 18, 2023 |
| LRRC43 | 2 | Feb 10, 2022 |
| LRRC56 | 1 | Jul 12, 2022 |
| LRTM3 | 1 | Feb 19, 2025 |
| LSS | 2 | Feb 2, 2024 |
| LTBP4 | 4 | Mar 31, 2026 |
| LURAP1L-AS1 | 1 | Feb 10, 2022 |
| LYPD6B | 1 | May 9, 2024 |
| LYST | 2 | May 13, 2026 |
| LZTR1 | 11 | May 13, 2026 |
| MACF1 | 5 | Dec 12, 2025 |
| MADD | 5 | May 9, 2024 |
| MAGEL2 | 11 | Feb 19, 2025 |
| MAGI1 | 1 | Feb 19, 2025 |
| MAN1B1 | 2 | Oct 17, 2023 |
| MAN2B1 | 3 | Feb 2, 2024 |
| MAOA | 1 | May 26, 2023 |
| MAP1B | 1 | Feb 2, 2024 |
| MAP2K1 | 5 | Jan 20, 2015 |
| MAP2K2 | 2 | Dec 12, 2025 |
| MAP3K12 | 1 | Oct 14, 2022 |
| MAP3K20 | 1 | Aug 20, 2024 |
| MAP3K4 | 1 | Oct 14, 2022 |
| MAP3K7 | 1 | Mar 31, 2026 |
| MAPK1 | 1 | Mar 31, 2026 |
| MAPK8IP3 | 6 | Feb 19, 2025 |
| MARK2 | 1 | Jan 18, 2023 |
| MARS1 | 1 | Feb 19, 2025 |
| MAST1 | 2 | Oct 17, 2023 |
| MAST3 | 1 | Jul 17, 2023 |
| MAT1A | 4 | Feb 10, 2022 |
| MATN3 | 1 | Dec 18, 2020 |
| MAZ | 1 | May 13, 2026 |
| MBD5 | 6 | Feb 19, 2025 |
| MBD6 | 1 | Oct 14, 2022 |
| MBOAT7 | 1 | Aug 20, 2024 |
| MBTPS1 | 1 | Feb 10, 2022 |
| MBTPS2 | 2 | Feb 19, 2025 |
| MC4R | 1 | Feb 2, 2024 |
| MCCC1 | 2 | May 9, 2024 |
| MCCC2 | 4 | Feb 19, 2025 |
| MCM3AP | 1 | Dec 12, 2025 |
| MCM9 | 1 | Dec 12, 2025 |
| MEA1 | 3 | Feb 2, 2024 |
| MECP2 | 13 | May 13, 2026 |
| MED12 | 6 | Feb 19, 2025 |
| MED12L | 6 | May 13, 2026 |
| MED13 | 8 | Feb 19, 2025 |
| MED13L | 5 | Mar 31, 2026 |
| MED14 | 2 | Apr 11, 2022 |
| MED15 | 2 | Mar 31, 2026 |
| MED17 | 1 | Oct 14, 2022 |
| MEF2C | 6 | Feb 2, 2024 |
| MEF2C-AS2 | 1 | Oct 14, 2022 |
| MEFV | 2 | Feb 19, 2025 |
| MEGF10 | 2 | Dec 12, 2025 |
| MEGF8 | 4 | May 9, 2024 |
| MEIS2 | 2 | Feb 10, 2022 |
| MEX3A | 1 | Oct 17, 2023 |
| MFF-DT | 4 | Feb 19, 2025 |
| MFN2 | 1 | Feb 10, 2022 |
| MHRT | 1 | Dec 12, 2025 |
| MIB1 | 1 | May 9, 2024 |
| MICALL2 | 1 | Mar 31, 2026 |
| MICU1 | 1 | Dec 18, 2020 |
| MID2 | 2 | May 9, 2024 |
| MINDY2 | 1 | May 13, 2026 |
| MINK1 | 1 | Oct 17, 2023 |
| MIP | 2 | Jul 12, 2022 |
| MIR9718 | 1 | Oct 14, 2022 |
| MITD1 | 1 | Jul 17, 2023 |
| MKKS | 1 | Dec 18, 2020 |
| MLC1 | 2 | Jan 18, 2023 |
| MMAA | 1 | Apr 11, 2022 |
| MMACHC | 2 | Mar 31, 2026 |
| MMP16 | 1 | May 9, 2024 |
| MMUT | 1 | Feb 10, 2022 |
| MN1 | 2 | Jul 12, 2022 |
| MOCS2 | 2 | Oct 17, 2023 |
| MORC2 | 8 | Feb 19, 2025 |
| MPDZ | 6 | May 9, 2024 |
| MPZ | 2 | Feb 10, 2022 |
| MRPS34 | 1 | Feb 10, 2022 |
| MRTFB | 1 | Mar 31, 2026 |
| MSH2 | 1 | Feb 19, 2025 |
| MSH6 | 4 | Feb 19, 2025 |
| MSL3 | 1 | Feb 10, 2022 |
| MSTO1 | 1 | Dec 12, 2025 |
| MSX1 | 1 | Jan 18, 2023 |
| MTM1 | 1 | Oct 14, 2022 |
| MTMR2 | 2 | Mar 31, 2026 |
| MTMR8 | 1 | Dec 18, 2020 |
| MTO1 | 2 | Jan 18, 2023 |
| MTOR | 8 | Feb 19, 2025 |
| MTR | 2 | Feb 19, 2025 |
| MUC5B | 1 | Aug 20, 2024 |
| MVK | 1 | Feb 19, 2025 |
| MVP-DT | 2 | May 13, 2026 |
| MYBPC3 | 11 | May 13, 2026 |
| MYCN | 3 | Oct 17, 2023 |
| MYH10 | 5 | Dec 12, 2025 |
| MYH11 | 3 | Oct 17, 2023 |
| MYH14 | 1 | May 13, 2026 |
| MYH6 | 1 | Feb 2, 2024 |
| MYH7 | 5 | Dec 12, 2025 |
| MYO15A | 2 | May 26, 2023 |
| MYO16 | 1 | Mar 31, 2026 |
| MYO18A | 1 | May 13, 2026 |
| MYO18B | 2 | Feb 10, 2022 |
| MYO5A | 1 | Jul 17, 2023 |
| MYO6 | 1 | Jan 18, 2023 |
| MYO7A | 1 | Feb 19, 2025 |
| MYO9A | 2 | Apr 11, 2022 |
| MYORG | 1 | Jul 17, 2023 |
| MYRF | 1 | Mar 31, 2026 |
| MYSM1 | 1 | Jan 18, 2023 |
| MYT1 | 1 | Jul 17, 2023 |
| MYT1L | 5 | Jul 17, 2023 |
| NAA10 | 3 | Dec 12, 2025 |
| NAA15 | 6 | May 9, 2024 |
| NAA35 | 1 | Feb 19, 2025 |
| NACC1 | 2 | May 13, 2026 |
| NAGA | 1 | Feb 10, 2022 |
| NAGLU | 3 | Apr 11, 2022 |
| NALCN | 4 | May 9, 2024 |
| NARS2 | 1 | Dec 12, 2025 |
| NBEA | 4 | Mar 31, 2026 |
| NBN | 1 | Jul 12, 2022 |
| NCAPH2 | 1 | Feb 19, 2025 |
| NCDN | 1 | Oct 17, 2023 |
| NCF4 | 1 | Aug 20, 2024 |
| NCKAP1 | 3 | May 26, 2023 |
| NDE1 | 1 | Oct 17, 2023 |
| NDN | 1 | Feb 10, 2022 |
| NDST2-ZSWIM8-AS1 | 1 | Oct 17, 2023 |
| NDST3 | 1 | Feb 19, 2025 |
| NDUFA11 | 1 | Feb 10, 2022 |
| NDUFA9 | 1 | Feb 10, 2022 |
| NDUFAF5 | 1 | Dec 12, 2025 |
| NDUFAF7 | 1 | Dec 12, 2025 |
| NDUFB3 | 1 | Dec 18, 2020 |
| NDUFS1 | 1 | Feb 10, 2022 |
| NDUFS2 | 1 | Feb 10, 2022 |
| NDUFV1 | 2 | May 9, 2024 |
| NEB | 6 | Aug 20, 2024 |
| NEDD4L | 2 | Feb 19, 2025 |
| NEFL | 2 | May 13, 2026 |
| NEMF | 1 | Feb 10, 2022 |
| NEUROD2 | 3 | Dec 12, 2025 |
| NEXMIF | 6 | May 13, 2026 |
| NF1 | 74 | May 13, 2026 |
| NF2 | 1 | Mar 31, 2026 |
| NFIA | 2 | Oct 17, 2023 |
| NFIB | 1 | Feb 2, 2024 |
| NFIX | 4 | Mar 31, 2026 |
| NFKB2 | 1 | Feb 19, 2025 |
| NGLY1 | 2 | Mar 31, 2026 |
| NHLRC2 | 2 | Feb 10, 2022 |
| NIPBL | 7 | May 13, 2026 |
| NKTR | 1 | Feb 10, 2022 |
| NKX2-1 | 2 | Jul 12, 2022 |
| NKX2-4 | 1 | May 9, 2024 |
| NLGN1 | 2 | Feb 2, 2024 |
| NLRC4 | 1 | Dec 12, 2025 |
| NLRP12 | 1 | Aug 20, 2024 |
| NLRP3 | 1 | Jul 12, 2022 |
| NME9 | 1 | Feb 10, 2022 |
| NMNAT1 | 2 | Apr 11, 2022 |
| NOG | 1 | Dec 12, 2025 |
| NOL6 | 1 | Mar 31, 2026 |
| NOTCH1 | 5 | May 13, 2026 |
| NOTCH2 | 4 | Mar 31, 2026 |
| NOTCH3 | 1 | May 13, 2026 |
| NPC1 | 7 | May 13, 2026 |
| NPHS1 | 3 | Mar 31, 2026 |
| NPRL2 | 1 | Dec 18, 2020 |
| NPTX1 | 1 | May 8, 2024 |
| NR0B1 | 2 | Mar 31, 2026 |
| NR2F1 | 3 | Feb 19, 2025 |
| NR2F1-AS1 | 1 | Jul 17, 2023 |
| NR2F2 | 1 | May 9, 2024 |
| NR3C2 | 1 | Feb 10, 2022 |
| NR4A2 | 1 | Oct 14, 2022 |
| NRAS | 4 | Feb 10, 2022 |
| NRCAM | 3 | Dec 12, 2025 |
| NRF1 | 1 | Oct 14, 2022 |
| NRK | 1 | May 13, 2026 |
| NRXN1 | 2 | Jul 17, 2023 |
| NRXN2 | 7 | Feb 19, 2025 |
| NSD1 | 7 | Feb 2, 2024 |
| NSD2 | 10 | May 13, 2026 |
| NSD3 | 1 | Feb 10, 2022 |
| NT5C2 | 1 | Apr 11, 2022 |
| NT5DC1 | 1 | May 9, 2024 |
| NTRK1 | 1 | May 13, 2026 |
| NTRK2 | 2 | Jul 17, 2023 |
| NUBPL | 2 | Mar 31, 2026 |
| NUP93 | 1 | Feb 10, 2022 |
| NUS1 | 3 | Sep 11, 2020 |
| OAS1 | 1 | Feb 2, 2024 |
| OAT | 1 | Aug 20, 2024 |
| OBSCN | 3 | Jul 17, 2023 |
| OBSL1 | 2 | Feb 2, 2024 |
| OCA2 | 8 | Mar 31, 2026 |
| ODC1 | 1 | May 26, 2023 |
| OFD1 | 5 | Dec 12, 2025 |
| OGDHL | 2 | May 13, 2026 |
| OPA1 | 6 | Dec 12, 2025 |
| OPA1-AS1 | 1 | Feb 10, 2022 |
| OPA3 | 1 | Feb 19, 2025 |
| OPHN1 | 7 | May 13, 2026 |
| OSGEP | 5 | Apr 19, 2022 |
| OTC | 2 | Feb 19, 2025 |
| OTOF | 2 | Feb 10, 2022 |
| OTUD5 | 1 | Apr 11, 2022 |
| OTUD6B | 2 | May 26, 2023 |
| OTUD7A | 2 | Feb 2, 2024 |
| P2RY12 | 2 | Oct 17, 2023 |
| P2RY13 | 1 | May 13, 2026 |
| P3H1 | 1 | May 26, 2023 |
| PACS1 | 2 | Dec 12, 2025 |
| PACS2 | 2 | Feb 19, 2025 |
| PADI3 | 1 | Oct 17, 2023 |
| PAFAH1B1 | 1 | Feb 10, 2022 |
| PAH | 12 | Feb 19, 2025 |
| PAK1 | 1 | Dec 12, 2025 |
| PAK3 | 1 | Dec 18, 2020 |
| PALB2 | 7 | Feb 19, 2025 |
| PANK2 | 2 | Oct 17, 2023 |
| PAOX | 1 | Jan 18, 2023 |
| PATJ | 2 | May 9, 2024 |
| PATL1 | 1 | Aug 20, 2024 |
| PAX1 | 2 | Feb 10, 2022 |
| PAX3 | 1 | Dec 18, 2020 |
| PAX6 | 5 | Feb 19, 2025 |
| PBX1 | 1 | Oct 14, 2022 |
| PCCA | 1 | Dec 12, 2025 |
| PCCB | 3 | Feb 19, 2025 |
| PCDH11X | 1 | Mar 31, 2026 |
| PCDH12 | 2 | May 26, 2023 |
| PCDH19 | 1 | Feb 19, 2025 |
| PCDHA1 | 1 | May 13, 2026 |
| PCDHA2 | 1 | May 13, 2026 |
| PCDHA3 | 1 | May 13, 2026 |
| PCDHA4 | 1 | May 13, 2026 |
| PCDHA5 | 1 | May 13, 2026 |
| PCDHA6 | 1 | May 13, 2026 |
| PCDHA7 | 1 | May 13, 2026 |
| PCDHA8 | 1 | May 13, 2026 |
| PCDHA@ | 1 | May 13, 2026 |
| PCGF3 | 1 | May 9, 2024 |
| PCGF3-AS1 | 1 | May 9, 2024 |
| PCLO | 5 | May 9, 2024 |
| PCSK9 | 1 | Feb 19, 2025 |
| PCYT2 | 1 | Feb 10, 2022 |
| PDCD10 | 2 | Feb 2, 2024 |
| PDE10A | 1 | May 13, 2026 |
| PDE4D | 1 | Feb 2, 2024 |
| PDE6B | 1 | Oct 17, 2023 |
| PDGFRB | 1 | Mar 31, 2026 |
| PDHA1 | 3 | Jul 17, 2023 |
| PDZD7 | 2 | Oct 17, 2023 |
| PEX1 | 3 | Mar 31, 2026 |
| PEX7 | 1 | Feb 10, 2022 |
| PGAP1 | 3 | Feb 2, 2024 |
| PHEX | 2 | Jul 17, 2023 |
| PHF1 | 1 | Jul 17, 2023 |
| PHF2 | 1 | Apr 11, 2022 |
| PHF21A | 2 | Oct 17, 2023 |
| PHF3 | 1 | Feb 19, 2025 |
| PHF5A | 1 | Oct 17, 2023 |
| PHF6 | 1 | Apr 11, 2022 |
| PHF8 | 3 | Mar 31, 2026 |
| PHIP | 11 | May 13, 2026 |
| PHKA1 | 1 | Feb 19, 2025 |
| PHKB | 2 | Mar 31, 2026 |
| PI4KA | 2 | Oct 14, 2022 |
| PIBF1 | 2 | Aug 20, 2024 |
| PIDD1 | 2 | Aug 20, 2024 |
| PIEZO1 | 5 | May 13, 2026 |
| PIEZO2 | 2 | May 13, 2026 |
| PIGA | 1 | Feb 19, 2025 |
| PIGG | 4 | Mar 31, 2026 |
| PIGN | 2 | May 9, 2024 |
| PIGO | 1 | Feb 19, 2025 |
| PIGQ | 2 | Mar 31, 2026 |
| PIGT | 2 | Feb 10, 2022 |
| PIGV | 4 | Oct 17, 2023 |
| PIK3CA | 5 | Dec 12, 2025 |
| PIK3CD | 1 | Feb 10, 2022 |
| PIK3R1 | 1 | Feb 10, 2022 |
| PIK3R2 | 1 | Feb 10, 2022 |
| PKD1 | 19 | Feb 19, 2025 |
| PKD2 | 4 | Oct 14, 2022 |
| PKHD1 | 8 | Feb 19, 2025 |
| PKN2 | 1 | Dec 12, 2025 |
| PKP2 | 4 | May 9, 2024 |
| PLA2G6 | 1 | Jul 12, 2022 |
| PLAA | 1 | Jan 18, 2023 |
| PLB1 | 1 | May 13, 2026 |
| PLCH1 | 1 | Aug 20, 2024 |
| PLD1 | 1 | May 9, 2024 |
| PLEC | 4 | May 13, 2026 |
| PLEKHG5 | 2 | May 9, 2024 |
| PLEKHH2 | 1 | Oct 14, 2022 |
| PLOD1 | 1 | Feb 10, 2022 |
| PLOD2 | 1 | Oct 17, 2023 |
| PLP1 | 1 | Jul 17, 2023 |
| PLXNA1 | 5 | Dec 12, 2025 |
| PLXNA3 | 3 | Mar 31, 2026 |
| PLXNB3-AS1 | 3 | Dec 12, 2025 |
| PMM2 | 4 | Jul 17, 2023 |
| PMPCB | 1 | Apr 11, 2022 |
| PMS2 | 1 | Aug 20, 2024 |
| PNKP | 3 | May 13, 2026 |
| PNPLA2 | 1 | Feb 19, 2025 |
| PNPT1 | 1 | Feb 19, 2025 |
| POFUT4 | 1 | May 9, 2024 |
| POGZ | 12 | May 13, 2026 |
| POLA1 | 5 | Mar 31, 2026 |
| POLE | 4 | Oct 14, 2022 |
| POLG | 14 | Aug 20, 2024 |
| POLGARF | 14 | Aug 20, 2024 |
| POLK | 1 | Jan 18, 2023 |
| POLR1A | 1 | May 13, 2026 |
| POLR1C | 4 | Oct 17, 2023 |
| POLR2A | 9 | May 13, 2026 |
| POLR2B | 1 | May 9, 2024 |
| POLR2F | 2 | Mar 31, 2026 |
| POLR3A | 1 | Feb 19, 2025 |
| POLR3B | 5 | Dec 12, 2025 |
| POLR3H | 1 | May 13, 2026 |
| POLRMT | 3 | Feb 19, 2025 |
| POMP | 1 | Mar 31, 2026 |
| POMT2 | 2 | May 13, 2026 |
| PORCN | 1 | Feb 9, 2021 |
| POU3F3 | 3 | Mar 31, 2026 |
| POU3F4 | 2 | May 13, 2026 |
| PPEF1 | 1 | Dec 12, 2025 |
| PPFIA3 | 2 | Mar 31, 2026 |
| PPFIBP1 | 4 | Mar 31, 2026 |
| PPIL6 | 1 | May 9, 2024 |
| PPL | 1 | Feb 2, 2024 |
| PPM1D | 6 | Mar 31, 2026 |
| PPP1R10 | 1 | Jan 18, 2023 |
| PPP1R12A | 2 | May 13, 2026 |
| PPP1R3F | 2 | May 9, 2024 |
| PPP2CA | 2 | Feb 19, 2025 |
| PPP2R1A | 2 | May 13, 2026 |
| PPP2R5D | 5 | May 9, 2024 |
| PPP3CA | 5 | Feb 19, 2025 |
| PQBP1 | 8 | May 13, 2026 |
| PRDM16 | 1 | Dec 12, 2025 |
| PRF1 | 2 | Feb 10, 2022 |
| PRICKLE1 | 3 | Aug 20, 2024 |
| PRICKLE2 | 2 | Jul 17, 2023 |
| PRIM1 | 1 | Feb 19, 2025 |
| PRIMPOL | 1 | Oct 17, 2023 |
| PRKAR1A | 1 | Jul 17, 2023 |
| PRKAR1B | 2 | Aug 20, 2024 |
| PRKAR1B-AS1 | 1 | Jul 17, 2023 |
| PRKCD | 1 | Mar 31, 2026 |
| PRKD3 | 1 | Dec 12, 2025 |
| PRKDC | 1 | Jan 18, 2023 |
| PRMT7 | 1 | May 13, 2026 |
| PROKR2 | 1 | Jul 12, 2022 |
| PROM1 | 1 | May 13, 2026 |
| PROP1 | 2 | Mar 31, 2026 |
| PROS1 | 2 | Aug 20, 2024 |
| PRPF8 | 1 | May 9, 2024 |
| PRR12 | 8 | Oct 17, 2023 |
| PRRC2A | 1 | Jul 12, 2022 |
| PRRC2C | 1 | May 26, 2023 |
| PRRT2 | 1 | Jul 12, 2022 |
| PRSS1 | 1 | May 7, 2026 |
| PRSS12 | 1 | Apr 11, 2022 |
| PRSS16 | 1 | Feb 19, 2025 |
| PRSS23 | 1 | Aug 20, 2024 |
| PRTG | 2 | Jul 12, 2022 |
| PSMA1 | 1 | Feb 10, 2022 |
| PSMC2 | 2 | Jul 17, 2023 |
| PSMD12 | 1 | Mar 31, 2026 |
| PTCD3 | 2 | May 13, 2026 |
| PTCH1 | 2 | Feb 2, 2024 |
| PTCHD1 | 4 | Dec 12, 2025 |
| PTEN | 8 | Dec 12, 2025 |
| PTPN11 | 35 | Jan 5, 2026 |
| PTPN23 | 7 | Mar 31, 2026 |
| PTPN4 | 2 | May 9, 2024 |
| PTPRQ | 2 | Dec 12, 2025 |
| PTPRS | 1 | Jan 18, 2023 |
| PUF60 | 1 | May 13, 2026 |
| PUM1 | 2 | Feb 19, 2025 |
| PURA | 3 | Mar 31, 2026 |
| PXDNL | 1 | May 9, 2024 |
| PYCR2 | 1 | Feb 10, 2022 |
| PYGL | 1 | May 26, 2023 |
| PYGM | 2 | Mar 31, 2026 |
| QARS1 | 2 | Feb 10, 2022 |
| QRICH1 | 9 | Feb 19, 2025 |
| RAB2A | 1 | Jan 18, 2023 |
| RAB33A | 1 | Apr 13, 2021 |
| RAB5C | 1 | Feb 19, 2025 |
| RAB9B | 1 | Jul 17, 2023 |
| RAC1 | 2 | May 13, 2026 |
| RAC3 | 1 | Jan 18, 2023 |
| RAD21 | 2 | Aug 20, 2024 |
| RAD50 | 1 | Jan 18, 2023 |
| RAD51C | 4 | Feb 19, 2025 |
| RAD51D | 3 | Dec 12, 2025 |
| RAD51L3-RFFL | 3 | Dec 12, 2025 |
| RAF1 | 8 | May 13, 2026 |
| RAI1 | 6 | May 13, 2026 |
| RALA | 1 | Feb 10, 2022 |
| RALGAPA1 | 3 | Jul 17, 2023 |
| RALGAPA2 | 2 | Dec 12, 2025 |
| RALGPS2 | 2 | May 9, 2024 |
| RANBP2 | 5 | Mar 31, 2026 |
| RAPGEF1 | 1 | Feb 10, 2022 |
| RAPGEF2 | 1 | Dec 12, 2025 |
| RARA | 1 | Apr 11, 2022 |
| RARS1 | 1 | Feb 10, 2022 |
| RARS2 | 6 | Aug 20, 2024 |
| RASA1 | 2 | Feb 19, 2025 |
| RB1 | 2 | Jan 18, 2023 |
| RBAK | 1 | Mar 31, 2026 |
| RBAK-RBAKDN | 1 | Mar 31, 2026 |
| RBM17 | 1 | Jul 17, 2023 |
| RBMX | 1 | Dec 12, 2025 |
| RBSN | 1 | May 13, 2026 |
| RECQL4 | 1 | Feb 10, 2022 |
| RELN | 6 | Oct 17, 2023 |
| RERE | 11 | Feb 19, 2025 |
| RET | 2 | Oct 17, 2023 |
| REV3L | 1 | Oct 17, 2023 |
| RFT1 | 1 | Feb 10, 2022 |
| RFX3 | 5 | Dec 12, 2025 |
| RFX7 | 3 | Mar 31, 2026 |
| RGS11 | 1 | Aug 20, 2024 |
| RHOBTB2 | 1 | Jul 17, 2023 |
| RHOBTB2-AS1 | 1 | Jul 17, 2023 |
| RIC1 | 2 | Aug 20, 2024 |
| RIF1 | 1 | Aug 20, 2024 |
| RIPK4 | 1 | Feb 19, 2025 |
| RIPPLY1 | 1 | May 13, 2026 |
| RIT1 | 2 | Mar 31, 2026 |
| RLIM | 1 | Apr 11, 2022 |
| RNASEH2B | 1 | Feb 10, 2022 |
| RNASEH2C | 2 | Jul 17, 2023 |
| RNF125 | 1 | Feb 10, 2022 |
| RNF14 | 2 | May 26, 2023 |
| RNF207 | 1 | Oct 17, 2023 |
| RNF213 | 3 | Feb 19, 2025 |
| RNF213-AS1 | 1 | Feb 19, 2025 |
| RNF220 | 1 | May 9, 2024 |
| RNPS1 | 1 | Aug 20, 2024 |
| ROBO1 | 2 | Mar 31, 2026 |
| ROBO2 | 1 | Feb 10, 2022 |
| ROCK2 | 1 | Feb 19, 2025 |
| ROGDI | 1 | Oct 14, 2022 |
| ROM1 | 1 | May 13, 2026 |
| RORA | 6 | Mar 31, 2026 |
| RORA-AS1 | 6 | Mar 31, 2026 |
| RPGRIP1L | 2 | Dec 18, 2020 |
| RPL10 | 1 | Dec 12, 2025 |
| RPL36A-HNRNPH2 | 4 | Mar 31, 2026 |
| RPS19 | 2 | May 26, 2023 |
| RPS4X | 1 | Jan 18, 2023 |
| RPS6KA1 | 1 | Mar 31, 2026 |
| RPS6KA3 | 5 | Mar 31, 2026 |
| RPS6KA6 | 1 | Feb 19, 2025 |
| RPS6KB2 | 1 | May 9, 2024 |
| RPS6KC1 | 1 | Feb 19, 2025 |
| RREB1 | 4 | Dec 12, 2025 |
| RS1 | 2 | Dec 12, 2025 |
| RSBN1 | 1 | May 13, 2026 |
| RTTN | 1 | Jul 17, 2023 |
| RUNX2 | 4 | Dec 12, 2025 |
| RUSC2 | 4 | Oct 14, 2022 |
| RXRA | 1 | Dec 18, 2020 |
| RYBP | 1 | May 13, 2026 |
| RYR1 | 14 | May 13, 2026 |
| RYR2 | 3 | Dec 12, 2025 |
| SACS | 3 | Jul 12, 2022 |
| SAE1 | 1 | May 13, 2026 |
| SAG | 3 | May 9, 2024 |
| SALL1 | 3 | Feb 2, 2024 |
| SALL4 | 1 | Feb 10, 2022 |
| SAMD9 | 1 | Oct 17, 2023 |
| SAMD9L | 1 | Dec 12, 2025 |
| SASH3 | 1 | Dec 12, 2025 |
| SATB1 | 8 | May 13, 2026 |
| SATB2 | 3 | May 7, 2026 |
| SBDS | 2 | May 7, 2026 |
| SBF1 | 3 | Dec 12, 2025 |
| SBF2 | 1 | Feb 10, 2022 |
| SBNO2 | 1 | Dec 12, 2025 |
| SCAF4 | 5 | Feb 2, 2024 |
| SCAF8 | 1 | May 13, 2026 |
| SCAMP4 | 1 | Feb 10, 2022 |
| SCAPER | 2 | Apr 11, 2022 |
| SCN1A | 9 | Feb 19, 2025 |
| SCN1B | 1 | Feb 19, 2025 |
| SCN2A | 10 | Feb 19, 2025 |
| SCN3A | 5 | Feb 19, 2025 |
| SCN4A | 7 | May 13, 2026 |
| SCN5A | 5 | Mar 31, 2026 |
| SCN8A | 10 | Mar 31, 2026 |
| SCN9A | 1 | Feb 10, 2022 |
| SCO2 | 1 | Feb 19, 2025 |
| SCP2 | 2 | Oct 17, 2023 |
| SCRIB | 1 | Aug 20, 2024 |
| SDC3 | 1 | Feb 10, 2022 |
| SDCCAG8 | 1 | Jul 12, 2022 |
| SDHB | 1 | May 9, 2024 |
| SDHD | 2 | Oct 14, 2022 |
| SEC16A | 2 | Jul 17, 2023 |
| SEC24B | 1 | May 26, 2023 |
| SEC31A | 2 | Jul 12, 2022 |
| SEC62 | 1 | Mar 31, 2026 |
| SECISBP2 | 1 | Jul 12, 2022 |
| SELENON | 3 | May 13, 2026 |
| SELENOO | 1 | Jan 18, 2023 |
| SEMA6B | 2 | Jan 18, 2022 |
| SEPTIN9 | 2 | May 9, 2024 |
| SERAC1 | 2 | Feb 19, 2025 |
| SERPINA1 | 3 | Mar 31, 2026 |
| SERPINC1 | 3 | Feb 19, 2025 |
| SERPING1 | 1 | Dec 18, 2020 |
| SET | 2 | May 26, 2023 |
| SETBP1 | 4 | Feb 2, 2024 |
| SETD1A | 10 | May 13, 2026 |
| SETD1B | 6 | Mar 31, 2026 |
| SETD2 | 13 | May 7, 2026 |
| SETD5 | 3 | Feb 19, 2025 |
| SETDB1 | 1 | Jul 17, 2023 |
| SF3B3 | 1 | Jul 17, 2023 |
| SFPQ | 1 | Feb 10, 2022 |
| SFTA3 | 2 | Jul 12, 2022 |
| SFXN3 | 1 | Aug 20, 2024 |
| SGO2 | 1 | Feb 19, 2025 |
| SGSH | 1 | Apr 11, 2022 |
| SH2B1 | 1 | Jan 18, 2023 |
| SH2D1A | 1 | Jul 12, 2022 |
| SH3TC2 | 3 | Mar 31, 2026 |
| SHANK1 | 7 | Feb 19, 2025 |
| SHANK2 | 2 | Apr 11, 2022 |
| SHANK3 | 8 | Feb 19, 2025 |
| SHH | 2 | Mar 31, 2026 |
| SHOC2 | 1 | Apr 11, 2022 |
| SHOX | 1 | May 9, 2024 |
| SHROOM2 | 3 | Jan 18, 2023 |
| SHROOM4 | 4 | Mar 31, 2026 |
| SI | 6 | Mar 31, 2026 |
| SIK1 | 2 | May 13, 2026 |
| SIN3A | 5 | May 13, 2026 |
| SIN3B | 1 | Feb 19, 2025 |
| SIX1 | 1 | Oct 14, 2022 |
| SKI | 2 | Dec 12, 2025 |
| SKIC2 | 1 | Oct 17, 2023 |
| SLC12A1 | 1 | Feb 10, 2022 |
| SLC12A2 | 2 | May 13, 2026 |
| SLC12A3 | 6 | Dec 12, 2025 |
| SLC12A4 | 1 | May 13, 2026 |
| SLC12A5 | 4 | Feb 19, 2025 |
| SLC13A5 | 1 | Apr 11, 2022 |
| SLC16A1 | 3 | Feb 19, 2025 |
| SLC16A2 | 2 | Mar 31, 2026 |
| SLC19A1 | 2 | Feb 10, 2022 |
| SLC20A2 | 2 | Jan 18, 2023 |
| SLC22A5 | 3 | May 13, 2026 |
| SLC25A14 | 1 | Jul 17, 2023 |
| SLC25A20 | 3 | Feb 10, 2022 |
| SLC25A22 | 1 | Feb 19, 2025 |
| SLC25A24 | 1 | May 13, 2026 |
| SLC25A46 | 1 | Feb 10, 2022 |
| SLC26A2 | 1 | Dec 12, 2025 |
| SLC26A4 | 10 | Feb 19, 2025 |
| SLC26A4-AS1 | 3 | Feb 19, 2025 |
| SLC26A5 | 2 | Jul 17, 2023 |
| SLC26A5-AS1 | 3 | Oct 17, 2023 |
| SLC2A1 | 4 | May 9, 2024 |
| SLC34A1 | 2 | May 14, 2024 |
| SLC34A3 | 1 | May 26, 2023 |
| SLC35A2 | 1 | Feb 10, 2022 |
| SLC35D2-HSD17B3 | 1 | Jul 17, 2023 |
| SLC37A4 | 2 | Oct 17, 2023 |
| SLC38A10 | 2 | May 13, 2026 |
| SLC39A5 | 1 | Feb 19, 2025 |
| SLC39A8 | 1 | Aug 20, 2024 |
| SLC3A1 | 2 | May 13, 2026 |
| SLC44A4 | 1 | Feb 10, 2022 |
| SLC45A1 | 2 | May 9, 2024 |
| SLC4A1 | 1 | Jul 12, 2022 |
| SLC52A2 | 2 | May 26, 2023 |
| SLC5A2 | 2 | Feb 10, 2022 |
| SLC5A5 | 2 | Jan 18, 2023 |
| SLC5A7 | 1 | May 13, 2026 |
| SLC6A1 | 8 | May 13, 2026 |
| SLC6A1-AS1 | 3 | Feb 19, 2025 |
| SLC6A8 | 5 | Feb 19, 2025 |
| SLC9A6 | 1 | Oct 17, 2023 |
| SLC9A7 | 5 | Feb 19, 2025 |
| SLC9A9 | 1 | May 26, 2023 |
| SLC9C2 | 1 | Jan 18, 2023 |
| SLCO1B3 | 1 | Feb 19, 2025 |
| SLCO1B3-SLCO1B7 | 1 | Feb 19, 2025 |
| SLF2 | 2 | Dec 12, 2025 |
| SLITRK2 | 1 | Feb 19, 2025 |
| SLX4 | 2 | May 9, 2024 |
| SMAD2 | 1 | Feb 19, 2025 |
| SMAD3 | 2 | Apr 11, 2022 |
| SMAD4 | 3 | Dec 12, 2025 |
| SMARCA1 | 1 | Jul 12, 2022 |
| SMARCA2 | 2 | May 9, 2024 |
| SMARCA4 | 3 | Jan 18, 2023 |
| SMARCB1 | 2 | Oct 14, 2022 |
| SMARCC1 | 1 | May 9, 2024 |
| SMARCC2 | 4 | Oct 14, 2022 |
| SMARCD1 | 1 | Feb 19, 2025 |
| SMARCE1 | 2 | May 26, 2023 |
| SMC1A | 3 | Feb 19, 2025 |
| SMC3 | 3 | Aug 20, 2024 |
| SMOC2 | 1 | Mar 31, 2026 |
| SMPD1 | 3 | Oct 17, 2023 |
| SMPD4 | 2 | Feb 2, 2024 |
| SMS | 1 | Feb 10, 2022 |
| SNAPC4 | 2 | Feb 19, 2025 |
| SND1 | 2 | Jul 17, 2023 |
| SNHG14 | 6 | May 13, 2026 |
| SNRK | 1 | Feb 10, 2022 |
| SNRK-AS1 | 1 | Feb 10, 2022 |
| SNX18 | 1 | May 13, 2026 |
| SON | 6 | Mar 31, 2026 |
| SORD | 1 | Feb 10, 2022 |
| SOS1 | 17 | Mar 31, 2026 |
| SOS2 | 2 | Jan 18, 2023 |
| SOX10 | 2 | Mar 31, 2026 |
| SOX11 | 1 | May 9, 2024 |
| SOX2 | 2 | Aug 20, 2024 |
| SOX2-OT | 2 | Aug 20, 2024 |
| SOX4 | 2 | Dec 12, 2025 |
| SOX5 | 2 | Mar 31, 2026 |
| SOX6 | 2 | Jan 18, 2023 |
| SOX9 | 1 | May 7, 2026 |
| SP4 | 1 | Oct 14, 2022 |
| SPAG9 | 1 | Oct 17, 2023 |
| SPAST | 4 | May 7, 2026 |
| SPATA22 | 2 | Dec 12, 2025 |
| SPEG | 2 | Jul 17, 2023 |
| SPEN | 10 | Dec 12, 2025 |
| SPG11 | 1 | Feb 19, 2025 |
| SPG7 | 6 | May 13, 2026 |
| SPRED1 | 12 | Mar 31, 2026 |
| SPTA1 | 1 | May 26, 2023 |
| SPTAN1 | 10 | Feb 19, 2025 |
| SPTB | 1 | Feb 19, 2025 |
| SPTBN1 | 10 | May 13, 2026 |
| SPTBN1-AS2 | 1 | Jul 12, 2022 |
| SPTBN5 | 1 | Feb 2, 2024 |
| SPTLC2 | 1 | Jul 12, 2022 |
| SRCAP | 15 | May 13, 2026 |
| SRD5A2 | 1 | Dec 12, 2025 |
| SRGAP1 | 1 | Aug 20, 2024 |
| SRPK3 | 2 | May 13, 2026 |
| SRPX | 1 | Feb 10, 2022 |
| SRRM2 | 5 | Dec 12, 2025 |
| SRSF1 | 2 | May 13, 2026 |
| SRSF3 | 1 | Mar 31, 2026 |
| SRSF7 | 1 | Feb 10, 2022 |
| SS18 | 1 | Feb 10, 2022 |
| STAB1 | 1 | Feb 19, 2025 |
| STAC3 | 1 | Feb 19, 2025 |
| STAG1 | 7 | Dec 12, 2025 |
| STAG2 | 2 | May 9, 2024 |
| STAP2 | 1 | Feb 19, 2025 |
| STARD9 | 8 | Feb 19, 2025 |
| STEEP1 | 3 | May 13, 2026 |
| STIM1 | 1 | Dec 18, 2020 |
| STK10 | 1 | Aug 20, 2024 |
| STRA6 | 1 | Feb 10, 2022 |
| STRN4 | 1 | Jul 17, 2023 |
| STT3A | 2 | Jul 17, 2023 |
| STX1A | 1 | Feb 19, 2025 |
| STXBP1 | 7 | Dec 12, 2025 |
| STXBP2 | 3 | May 9, 2024 |
| SUFU | 1 | Dec 12, 2025 |
| SUMF1 | 3 | Jan 18, 2023 |
| SUMO2 | 1 | Feb 19, 2025 |
| SUPT16H | 3 | Feb 19, 2025 |
| SUPT3H | 1 | Dec 12, 2025 |
| SURF1 | 2 | May 9, 2024 |
| SUZ12 | 1 | Feb 10, 2022 |
| SYN1 | 2 | Dec 12, 2025 |
| SYNE1 | 7 | Dec 12, 2025 |
| SYNE2 | 1 | Dec 12, 2025 |
| SYNGAP1 | 6 | Mar 31, 2026 |
| SYNGAP1-AS1 | 5 | Mar 31, 2026 |
| SYP | 2 | Dec 12, 2025 |
| SYT1 | 2 | Dec 12, 2025 |
| SYT2 | 1 | Aug 20, 2024 |
| SZT2 | 5 | Jul 17, 2023 |
| TAB2 | 2 | Jul 17, 2023 |
| TAF1 | 11 | Dec 12, 2025 |
| TAF4 | 1 | Feb 19, 2025 |
| TAFAZZIN | 1 | Mar 31, 2026 |
| TALDO1 | 3 | Dec 12, 2025 |
| TANC2 | 6 | Aug 20, 2024 |
| TAOK1 | 14 | Dec 12, 2025 |
| TARS2 | 2 | Mar 31, 2026 |
| TBC1D14 | 1 | May 13, 2026 |
| TBCEL | 1 | Oct 17, 2023 |
| TBCEL-TECTA | 2 | Oct 17, 2023 |
| TBCK | 2 | Oct 14, 2022 |
| TBK1 | 2 | Aug 20, 2024 |
| TBL1X | 1 | May 7, 2026 |
| TBL1XR1 | 3 | Jul 17, 2023 |
| TBL1XR1-AS1 | 1 | May 26, 2023 |
| TBR1 | 2 | Dec 12, 2025 |
| TBX1 | 6 | Mar 31, 2026 |
| TBX2 | 2 | Feb 19, 2025 |
| TBX5 | 2 | Dec 12, 2025 |
| TBXAS1 | 1 | May 9, 2024 |
| TBXT | 1 | Feb 10, 2022 |
| TCAP | 1 | Aug 20, 2024 |
| TCF12 | 4 | May 13, 2026 |
| TCF20 | 12 | Dec 12, 2025 |
| TCF4 | 6 | Mar 31, 2026 |
| TCF7L2 | 1 | May 26, 2023 |
| TCIRG1 | 3 | May 9, 2024 |
| TCOF1 | 2 | Dec 12, 2025 |
| TEAD2 | 1 | Dec 12, 2025 |
| TECPR2 | 2 | May 9, 2024 |
| TECR | 1 | Oct 17, 2023 |
| TECTA | 1 | Oct 17, 2023 |
| TELO2 | 3 | May 9, 2024 |
| TENM1 | 1 | Dec 12, 2025 |
| TERT | 1 | Feb 10, 2022 |
| TET3 | 11 | Dec 12, 2025 |
| TFAP2A | 1 | Jan 18, 2023 |
| TFAP2A-AS2 | 1 | Jan 18, 2023 |
| TFAP2B | 1 | Feb 2, 2024 |
| TFE3 | 4 | Feb 19, 2025 |
| TFG | 1 | Jul 12, 2022 |
| TG | 2 | Oct 17, 2023 |
| TGDS | 1 | Feb 10, 2022 |
| TGFB1 | 1 | May 7, 2026 |
| TGFB2 | 1 | Feb 19, 2025 |
| TGFB3 | 4 | Mar 31, 2026 |
| TGFBR2 | 2 | Feb 19, 2025 |
| TGM5 | 1 | Feb 10, 2022 |
| TH | 1 | May 9, 2024 |
| THOC2 | 6 | May 13, 2026 |
| THOC6 | 1 | Feb 19, 2025 |
| THRB | 1 | Aug 20, 2024 |
| TIAM1 | 1 | Jan 18, 2023 |
| TIMM8A | 1 | Jul 12, 2022 |
| TLK2 | 5 | Aug 20, 2024 |
| TLN1 | 1 | May 9, 2024 |
| TLR7 | 1 | Feb 19, 2025 |
| TM9SF3 | 1 | Feb 10, 2022 |
| TMCO1 | 1 | Feb 10, 2022 |
| TMEM138 | 1 | Dec 12, 2025 |
| TMEM154 | 1 | Mar 31, 2026 |
| TMEM164 | 1 | Dec 18, 2020 |
| TMEM184A | 1 | Mar 31, 2026 |
| TMEM215 | 1 | Feb 19, 2025 |
| TMEM240 | 1 | May 9, 2024 |
| TMEM67 | 1 | Dec 12, 2025 |
| TMEM94 | 2 | May 26, 2023 |
| TMLHE | 2 | Dec 12, 2025 |
| TMLHE-AS1 | 1 | Dec 12, 2025 |
| TNC | 1 | Jan 18, 2023 |
| TNFAIP3 | 1 | Jan 5, 2026 |
| TNFRSF13B | 3 | Mar 31, 2026 |
| TNFRSF1A | 2 | Dec 20, 2024 |
| TNFRSF9 | 1 | Oct 14, 2022 |
| TNNT2 | 1 | Oct 14, 2022 |
| TNPO2 | 2 | May 13, 2026 |
| TNPO3 | 1 | Feb 19, 2025 |
| TNRC18 | 1 | Apr 11, 2022 |
| TNRC6B | 11 | May 13, 2026 |
| TNXB | 2 | Feb 19, 2025 |
| TOB1 | 1 | May 13, 2026 |
| TOE1 | 1 | Apr 11, 2022 |
| TOGARAM1 | 2 | Jul 12, 2022 |
| TOP2B | 1 | Dec 18, 2020 |
| TOR1A | 3 | May 13, 2026 |
| TP53 | 1 | Feb 2, 2024 |
| TP53RK | 2 | Apr 11, 2022 |
| TP63 | 4 | Dec 12, 2025 |
| TPM2 | 1 | Jul 12, 2022 |
| TPM3 | 1 | Feb 10, 2022 |
| TPO | 2 | Jul 12, 2022 |
| TPP1 | 1 | May 9, 2024 |
| TPR | 4 | May 13, 2026 |
| TRAF7 | 1 | Feb 19, 2025 |
| TRAK1 | 2 | Feb 10, 2022 |
| TRAK2 | 1 | Jul 12, 2022 |
| TRAPPC10 | 2 | Oct 17, 2023 |
| TRAPPC12 | 1 | Feb 2, 2024 |
| TRAPPC4 | 1 | Jan 18, 2023 |
| TRB | 1 | May 7, 2026 |
| TRIM28 | 1 | May 13, 2026 |
| TRIM56 | 1 | Mar 31, 2026 |
| TRIM71 | 2 | Feb 19, 2025 |
| TRIM8 | 3 | Feb 19, 2025 |
| TRIO | 21 | Mar 31, 2026 |
| TRIOBP | 3 | May 13, 2026 |
| TRIP12 | 10 | May 13, 2026 |
| TRMT1 | 6 | Dec 12, 2025 |
| TRPC1 | 1 | Feb 19, 2025 |
| TRPM3 | 3 | Feb 19, 2025 |
| TRPM4 | 1 | Dec 12, 2025 |
| TRPM7 | 1 | Jan 18, 2023 |
| TRPS1 | 3 | Feb 2, 2024 |
| TRPV4 | 3 | May 13, 2026 |
| TRPV6 | 1 | Feb 10, 2022 |
| TRRAP | 23 | Mar 31, 2026 |
| TSC1 | 5 | Mar 31, 2026 |
| TSC2 | 9 | May 13, 2026 |
| TSEN2 | 1 | May 9, 2024 |
| TSEN54 | 1 | Oct 22, 2024 |
| TSHB | 1 | Jan 18, 2023 |
| TSHR | 3 | May 13, 2026 |
| TSHR-AS1 | 3 | May 13, 2026 |
| TSPAN12 | 1 | Feb 10, 2022 |
| TSPAN7 | 1 | Dec 12, 2025 |
| TSPEAR | 4 | May 7, 2026 |
| TTC19 | 1 | Dec 18, 2020 |
| TTC7A | 5 | Oct 14, 2022 |
| TTN | 10 | Dec 12, 2025 |
| TTN-AS1 | 4 | Dec 12, 2025 |
| TUBA1A | 4 | Feb 19, 2025 |
| TUBB2A | 1 | Feb 10, 2022 |
| TUBB2B | 1 | Apr 11, 2022 |
| TUBB3 | 4 | Feb 19, 2025 |
| TUBG1 | 1 | Jul 12, 2022 |
| TUSC3 | 1 | Oct 14, 2022 |
| TWIST1 | 3 | Dec 12, 2025 |
| TWNK | 1 | Jul 17, 2023 |
| TYR | 6 | Dec 12, 2025 |
| TYRP1 | 4 | Feb 10, 2022 |
| UBA1 | 1 | Feb 2, 2024 |
| UBAP2L | 1 | Dec 12, 2025 |
| UBE2A | 1 | Jul 12, 2022 |
| UBE2O | 1 | Mar 31, 2026 |
| UBE3A | 6 | May 13, 2026 |
| UBE3B | 4 | Dec 12, 2025 |
| UBE4A | 1 | May 26, 2023 |
| UBE4B | 1 | Jul 17, 2023 |
| UBR4 | 1 | Aug 20, 2024 |
| UBTF | 2 | Aug 20, 2024 |
| UCHL1 | 1 | May 13, 2026 |
| UCP3 | 1 | Apr 11, 2022 |
| UGDH | 2 | Dec 12, 2025 |
| UGP2 | 2 | Jul 17, 2023 |
| UGT1A | 1 | Jul 12, 2022 |
| UGT1A1 | 1 | Jul 12, 2022 |
| UGT1A10 | 1 | Jul 12, 2022 |
| UGT1A3 | 1 | Jul 12, 2022 |
| UGT1A4 | 1 | Jul 12, 2022 |
| UGT1A5 | 1 | Jul 12, 2022 |
| UGT1A6 | 1 | Jul 12, 2022 |
| UGT1A7 | 1 | Jul 12, 2022 |
| UGT1A8 | 1 | Jul 12, 2022 |
| UGT1A9 | 1 | Jul 12, 2022 |
| UMOD | 1 | Feb 10, 2022 |
| UNC13A | 2 | Aug 20, 2024 |
| UNC79 | 5 | Dec 12, 2025 |
| UNC80 | 2 | Feb 19, 2025 |
| UNK | 1 | Feb 10, 2022 |
| UPF1 | 1 | May 13, 2026 |
| UPF3B | 2 | Jul 12, 2022 |
| UQCRC1 | 1 | Apr 11, 2022 |
| URB1 | 2 | May 13, 2026 |
| USH1C | 1 | Feb 10, 2022 |
| USH2A | 9 | Mar 31, 2026 |
| USH2A-AS1 | 2 | Mar 31, 2026 |
| USH2A-AS2 | 2 | Aug 20, 2024 |
| USP19 | 1 | Jan 18, 2023 |
| USP7 | 2 | Feb 19, 2025 |
| USP9X | 5 | May 13, 2026 |
| UTP14C | 2 | Oct 14, 2022 |
| UTP20 | 1 | Feb 19, 2025 |
| VARS1 | 7 | May 13, 2026 |
| VCP | 1 | Feb 10, 2022 |
| VHL | 2 | Dec 12, 2025 |
| VPS13B | 8 | May 13, 2026 |
| VPS35 | 1 | Dec 12, 2025 |
| VPS39 | 1 | Feb 2, 2024 |
| VPS51 | 1 | Feb 10, 2022 |
| VPS52 | 2 | Jul 12, 2022 |
| VPS53 | 1 | Oct 14, 2022 |
| VWF | 5 | Dec 12, 2025 |
| WAC | 4 | May 9, 2024 |
| WAS | 1 | Feb 19, 2025 |
| WASF1 | 1 | Oct 14, 2022 |
| WBP4 | 1 | Mar 31, 2026 |
| WDFY3 | 10 | Aug 20, 2024 |
| WDFY3-AS1 | 1 | Oct 14, 2022 |
| WDR11 | 1 | Aug 20, 2024 |
| WDR13 | 1 | Feb 19, 2025 |
| WDR26 | 3 | May 7, 2026 |
| WDR35 | 1 | Mar 31, 2026 |
| WDR37 | 2 | Aug 20, 2024 |
| WDR44 | 1 | Feb 10, 2022 |
| WDR45 | 4 | May 9, 2024 |
| WDR62 | 2 | May 13, 2026 |
| WDR81 | 2 | Mar 31, 2026 |
| WFS1 | 7 | Feb 2, 2024 |
| WHRN | 1 | Feb 10, 2022 |
| WNK3 | 2 | May 9, 2024 |
| WNT10A | 6 | Feb 19, 2025 |
| WNT10B | 1 | Feb 19, 2025 |
| WT1 | 2 | May 26, 2023 |
| WWC1 | 1 | May 9, 2024 |
| WWOX | 2 | Feb 19, 2025 |
| XKR6 | 1 | Oct 14, 2022 |
| XPR1 | 1 | Mar 31, 2026 |
| XYLT2 | 2 | Aug 20, 2024 |
| YEATS2 | 1 | Feb 10, 2022 |
| YIPF2 | 1 | Mar 31, 2026 |
| YPEL5 | 1 | Dec 12, 2025 |
| YWHAZ | 1 | Jan 5, 2026 |
| YY1 | 4 | Feb 19, 2025 |
| YY1AP1 | 1 | May 9, 2024 |
| YY2 | 2 | Feb 19, 2025 |
| ZBTB11 | 4 | Dec 12, 2025 |
| ZBTB18 | 3 | Dec 12, 2025 |
| ZBTB47-AS1 | 1 | Feb 10, 2022 |
| ZBTB7A | 2 | Mar 31, 2026 |
| ZCCHC8 | 1 | Jan 18, 2023 |
| ZDHHC15 | 1 | Aug 20, 2024 |
| ZEB2 | 6 | Feb 19, 2025 |
| ZFHX3 | 2 | Mar 31, 2026 |
| ZFHX3-AS1 | 2 | Mar 31, 2026 |
| ZFHX4 | 2 | Mar 31, 2026 |
| ZFP28 | 1 | Aug 20, 2024 |
| ZFR | 2 | May 9, 2024 |
| ZFX | 1 | Feb 19, 2025 |
| ZFYVE16 | 1 | Feb 19, 2025 |
| ZFYVE26 | 3 | May 13, 2026 |
| ZGRF1 | 1 | Aug 20, 2024 |
| ZIC1 | 1 | May 13, 2026 |
| ZMIZ1 | 14 | May 13, 2026 |
| ZMPSTE24 | 1 | Feb 19, 2025 |
| ZMYM2 | 6 | Feb 19, 2025 |
| ZMYM3 | 5 | Feb 19, 2025 |
| ZMYND10 | 2 | May 9, 2024 |
| ZMYND11 | 6 | May 13, 2026 |
| ZMYND8 | 5 | Dec 12, 2025 |
| ZNF132 | 1 | Feb 19, 2025 |
| ZNF142 | 5 | Mar 31, 2026 |
| ZNF148 | 2 | May 9, 2024 |
| ZNF287 | 1 | Oct 14, 2022 |
| ZNF292 | 14 | Mar 31, 2026 |
| ZNF318 | 1 | Aug 20, 2024 |
| ZNF324B | 1 | Feb 19, 2025 |
| ZNF407 | 2 | Feb 2, 2024 |
| ZNF408 | 2 | May 13, 2026 |
| ZNF462 | 8 | Feb 2, 2024 |
| ZNF469 | 5 | Feb 19, 2025 |
| ZNF674 | 1 | Mar 31, 2026 |
| ZNF687 | 1 | Oct 17, 2023 |
| ZNF699 | 3 | May 26, 2023 |
| ZNF711 | 3 | Mar 31, 2026 |
| ZNF774 | 1 | Feb 10, 2022 |
| ZNF777 | 1 | Jul 17, 2023 |
| ZNF800 | 1 | Aug 20, 2024 |
| ZNRF3 | 1 | Mar 31, 2026 |
| ZSWIM6 | 3 | Feb 19, 2025 |
| ZSWIM8 | 1 | Oct 17, 2023 |
| ZSWIM8-AS1 | 1 | Oct 17, 2023 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3-Methylglutaconic aciduria type 2 | 2 tests |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 1 test |
| 4p partial monosomy syndrome | 2 tests |
| 7q11.23 microduplication syndrome | 2 tests |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2 tests |
| ALG1-congenital disorder of glycosylation | 1 test |
| ALG9 congenital disorder of glycosylation | 1 test |
| ANKRD1-related dilated cardiomyopathy | 1 test |
| Absence seizure | 1 test |
| Achondrogenesis type II | 1 test |
| Achondroplasia | 1 test |
| Action myoclonus-renal failure syndrome | 1 test |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 test |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 test |
| Adenylosuccinate lyase deficiency | 1 test |
| Adrenoleukodystrophy | 1 test |
| Alagille syndrome due to a JAG1 point mutation | 1 test |
| Alagille syndrome due to a NOTCH2 point mutation | 1 test |
| Alpha thalassemia-X-linked intellectual disability syndrome | 2 tests |
| Alpha-1-antitrypsin deficiency | 2 tests |
| Alpha-methylacyl-CoA racemase deficiency | 1 test |
| Alstrom syndrome | 3 tests |
| Alternating hemiplegia of childhood 1 | 1 test |
| Amelocerebrohypohidrotic syndrome | 1 test |
| Amish lethal microcephaly | 1 test |
| Amyloidosis, hereditary systemic 1 | 2 tests |
| Andersen Tawil syndrome | 1 test |
| Aneurysm-osteoarthritis syndrome | 2 tests |
| Angelman syndrome | 5 tests |
| Aortic aneurysm, familial thoracic 4 | 2 tests |
| Aortic aneurysm, familial thoracic 6 | 2 tests |
| Aortic aneurysm, familial thoracic 7 | 2 tests |
| Aortic valve disease 1 | 2 tests |
| Arginine:glycine amidinotransferase deficiency | 1 test |
| Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities | 2 tests |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2 tests |
| Arrhythmogenic right ventricular dysplasia 1 | 1 test |
| Arrhythmogenic right ventricular dysplasia 10 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 11 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 12 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 2 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 5 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 8 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 9 | 2 tests |
| Arrhythmogenic right ventricular dysplasia, familial, 14 | 2 tests |
| Arterial tortuosity syndrome | 2 tests |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 1 test |
| Aspartylglucosaminuria | 1 test |
| Atrial fibrillation, familial, 10 | 2 tests |
| Atrial fibrillation, familial, 12 | 1 test |
| Atrial fibrillation, familial, 13 | 1 test |
| Atrial fibrillation, familial, 14 | 1 test |
| Atrial fibrillation, familial, 3 | 1 test |
| Atrial fibrillation, familial, 4 | 1 test |
| Atrial fibrillation, familial, 7 | 2 tests |
| Atrial fibrillation, familial, 9 | 1 test |
| Atrial septal defect 3 | 2 tests |
| Atrial septal defect 4 | 2 tests |
| Atrial septal defect 5 | 2 tests |
| Atrial septal defect 7 | 1 test |
| Autoimmune interstitial lung disease-arthritis syndrome | 2 tests |
| Autosomal dominant Alport syndrome | 1 test |
| Autosomal dominant auditory neuropathy 1 | 1 test |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 3 tests |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 21 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 28 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 3A | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 40 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 44 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 50 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 51 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 64 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 67 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 68 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 69 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 7 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 70 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 test |
| Autosomal recessive Alport syndrome | 1 test |
| Autosomal recessive amelia | 1 test |
| Autosomal recessive dyskeratosis congenita 4 | 2 tests |
| Autosomal recessive inherited pseudoxanthoma elasticum | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 test |
| Autosomal recessive nonsyndromic hearing loss 101 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 102 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 103 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 104 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 16 | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1A | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 32 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 35 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 37 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 39 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 42 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 53 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 6 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 66 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 68 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 77 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 88 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 89 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 91 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 93 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 98 | 1 test |
| Autosomal recessive polycystic kidney disease | 1 test |
| Autosomal recessive spinocerebellar ataxia 12 | 1 test |
| Azorean disease | 2 tests |
| Bannayan-Riley-Ruvalcaba syndrome | 2 tests |
| Baraitser-winter syndrome 2 | 1 test |
| Bardet-Biedl syndrome 13 | 1 test |
| Bartter disease type 3 | 1 test |
| Bartter disease type 4A | 1 test |
| Bartter disease type 4B | 1 test |
| Becker muscular dystrophy | 1 test |
| Beckwith-Wiedemann syndrome | 6 tests |
| Benign recurrent intrahepatic cholestasis type 1 | 1 test |
| Benign recurrent intrahepatic cholestasis type 2 | 1 test |
| Bifunctional peroxisomal enzyme deficiency | 1 test |
| Bile acid malabsorption, primary, 1 | 1 test |
| Biotinidase deficiency | 1 test |
| Birt-Hogg-Dube syndrome | 1 test |
| Borjeson-Forssman-Lehmann syndrome | 2 tests |
| Brain-lung-thyroid syndrome | 2 tests |
| Branchiootic syndrome 1 | 1 test |
| Branchiootorenal syndrome 1 | 1 test |
| Brittle cornea syndrome 1 | 1 test |
| Brittle cornea syndrome 2 | 1 test |
| Brody myopathy | 1 test |
| Bronchiectasis with or without elevated sweat chloride 1 | 1 test |
| Bronchiectasis with or without elevated sweat chloride 2 | 1 test |
| Brown-Vialetto-van Laere syndrome 1 | 1 test |
| Brown-Vialetto-van Laere syndrome 2 | 1 test |
| Brugada syndrome | 1 test |
| Brugada syndrome 1 | 2 tests |
| Brugada syndrome 2 | 1 test |
| Brugada syndrome 3 | 1 test |
| Brugada syndrome 4 | 1 test |
| Brugada syndrome 5 | 1 test |
| Brugada syndrome 6 | 1 test |
| Brugada syndrome 7 | 1 test |
| Brugada syndrome 8 | 1 test |
| Brugada syndrome 9 | 1 test |
| CBL-related disorder | 2 tests |
| CHARGE syndrome | 3 tests |
| CLAPO syndrome | 1 test |
| CLOVES syndrome | 1 test |
| COACH syndrome | 1 test |
| Cantu syndrome, KCNJ8 related | 1 test |
| Capillary malformation-arteriovenous malformation syndrome | 2 tests |
| Cardiac arrhythmia, ankyrin-B-related | 1 test |
| Cardiac conduction disease with or without dilated cardiomyopathy 1 | 2 tests |
| Cardiofaciocutaneous syndrome 1 | 1 test |
| Cardiofaciocutaneous syndrome 2 | 1 test |
| Cardiofaciocutaneous syndrome 3 | 2 tests |
| Cardiofaciocutaneous syndrome 4 | 2 tests |
| Cardiomyopathy, dilated, 2D | 2 tests |
| Cardiomyopathy, dilated, 2F | 2 tests |
| Cardiomyopathy, dilated, 2G | 2 tests |
| Cardiomyopathy, dilated, 2K | 2 tests |
| Cardiomyopathy, dilated, 2j | 2 tests |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2 tests |
| Cardiomyopathy, familial hypertrophic 27 | 1 test |
| Cardiomyopathy, familial hypertrophic, 28 | 1 test |
| Cardiomyopathy, familial restrictive, 1 | 2 tests |
| Cardiomyopathy, familial restrictive, 3 | 2 tests |
| Carnitine acylcarnitine translocase deficiency | 1 test |
| Carnitine palmitoyl transferase 1A deficiency | 1 test |
| Carnitine palmitoyltransferase II deficiency | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia 4 | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 2 tests |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 2 tests |
| Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | 1 test |
| Cerebral cavernous malformation | 1 test |
| Cerebral cavernous malformation 2 | 1 test |
| Cerebral cavernous malformation 3 | 1 test |
| Cerebral cavernous malformation 4 | 1 test |
| Cerebral creatine deficiency syndrome | 1 test |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 2 tests |
| Ceroid lipofuscinosis, neuronal, 6A | 1 test |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 1 test |
| Charcot-Marie-Tooth disease, type IA | 1 test |
| Cholestanol storage disease | 1 test |
| Cholestasis, intrahepatic, of pregnancy, 1 | 1 test |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 test |
| Cholestasis, progressive familial intrahepatic, 4 | 1 test |
| Cholestasis, progressive familial intrahepatic, 5 | 1 test |
| Chondrodysplasia Blomstrand type | 1 test |
| Christianson syndrome | 1 test |
| Chudley-McCullough syndrome | 1 test |
| Chédiak-Higashi syndrome | 1 test |
| Ciliary dyskinesia, primary, 37 | 1 test |
| Ciliary dyskinesia, primary, 42 | 1 test |
| Citrullinemia type II | 1 test |
| Classic homocystinuria | 2 tests |
| Coffin Siris/Intellectual Disability | 2 tests |
| Coffin-Siris syndrome 1 | 1 test |
| Cohen-Gibson syndrome | 3 tests |
| Combined deficiency of sialidase AND beta galactosidase | 1 test |
| Combined immunodeficiency due to DOCK8 deficiency | 1 test |
| Combined oxidative phosphorylation defect type 13 | 1 test |
| Combined oxidative phosphorylation defect type 24 | 1 test |
| Complex cortical dysplasia with other brain malformations 2 | 1 test |
| Complex cortical dysplasia with other brain malformations 5 | 1 test |
| Cone-rod dystrophy and hearing loss 1 | 1 test |
| Cone-rod dystrophy and hearing loss 2 | 1 test |
| Congenital bile acid synthesis defect 1 | 1 test |
| Congenital bile acid synthesis defect 2 | 1 test |
| Congenital bile acid synthesis defect 3 | 1 test |
| Congenital bile acid synthesis defect 4 | 1 test |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 test |
| Congenital central hypoventilation | 1 test |
| Congenital contractural arachnodactyly | 2 tests |
| Congenital diarrhea 5 with tufting enteropathy | 1 test |
| Congenital dyserythropoietic anemia type 4 | 1 test |
| Congenital dyserythropoietic anemia, type I | 1 test |
| Congenital dyserythropoietic anemia, type II | 1 test |
| Congenital dyserythropoietic anemia, type III | 1 test |
| Congenital lactase deficiency | 1 test |
| Congenital macrodactylia | 1 test |
| Congenital malabsorptive diarrhea 4 | 1 test |
| Congenital microvillous atrophy | 1 test |
| Congenital muscular hypertrophy-cerebral syndrome | 1 test |
| Congenital secretory diarrhea, chloride type | 1 test |
| Congenital sodium diarrhea | 1 test |
| Conotruncal heart malformations | 1 test |
| Cortical dysplasia-focal epilepsy syndrome | 1 test |
| Costello syndrome | 4 tests |
| Cowden syndrome | 1 test |
| Cowden syndrome 1 | 2 tests |
| Cowden syndrome 5 | 1 test |
| Coxopodopatellar syndrome | 1 test |
| Crigler-Najjar syndrome type 1 | 1 test |
| Crigler-Najjar syndrome, type II | 1 test |
| Cutaneous porphyria | 1 test |
| Cutis laxa with osteodystrophy | 1 test |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 1 test |
| Cutis laxa, X-linked | 1 test |
| Cutis laxa, autosomal dominant 1 | 3 tests |
| Cutis laxa, autosomal dominant 2 | 2 tests |
| Cutis laxa, autosomal recessive, type 1A | 3 tests |
| Cutis laxa, autosomal recessive, type 1B | 1 test |
| Cystic fibrosis | 3 tests |
| DK1-congenital disorder of glycosylation | 2 tests |
| DOORS syndrome | 1 test |
| DYRK1A-related intellectual disability syndrome | 1 test |
| Danon disease | 2 tests |
| De Lange syndrome | 2 tests |
| Deafness dystonia syndrome | 1 test |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 test |
| Deafness, X-linked 5 | 1 test |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
| Deafness-infertility syndrome | 1 test |
| Deafness-lymphedema-leukemia syndrome | 1 test |
| Decreased CSF 5-methyltetrahydrofolate concentration | 1 test |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 test |
| Deficiency of alpha-mannosidase | 2 tests |
| Delpire-McNeill syndrome | 1 test |
| Desbuquois dysplasia 1 | 1 test |
| Developmental and epileptic encephalopathy 91 | 1 test |
| Developmental and epileptic encephalopathy 92 | 1 test |
| Developmental and epileptic encephalopathy 94 | 3 tests |
| Developmental and epileptic encephalopathy, 1 | 1 test |
| Developmental and epileptic encephalopathy, 14 | 1 test |
| Developmental and epileptic encephalopathy, 15 | 1 test |
| Developmental and epileptic encephalopathy, 16 | 1 test |
| Developmental and epileptic encephalopathy, 17 | 1 test |
| Developmental and epileptic encephalopathy, 18 | 1 test |
| Developmental and epileptic encephalopathy, 19 | 1 test |
| Developmental and epileptic encephalopathy, 23 | 1 test |
| Developmental and epileptic encephalopathy, 24 | 1 test |
| Developmental and epileptic encephalopathy, 26 | 1 test |
| Developmental and epileptic encephalopathy, 28 | 1 test |
| Developmental and epileptic encephalopathy, 30 | 1 test |
| Developmental and epileptic encephalopathy, 31A | 1 test |
| Developmental and epileptic encephalopathy, 32 | 1 test |
| Developmental and epileptic encephalopathy, 33 | 1 test |
| Developmental and epileptic encephalopathy, 36 | 1 test |
| Developmental and epileptic encephalopathy, 4 | 1 test |
| Developmental and epileptic encephalopathy, 44 | 1 test |
| Developmental and epileptic encephalopathy, 45 | 1 test |
| Developmental and epileptic encephalopathy, 47 | 1 test |
| Developmental and epileptic encephalopathy, 5 | 1 test |
| Developmental and epileptic encephalopathy, 53 | 1 test |
| Developmental and epileptic encephalopathy, 57 | 1 test |
| Developmental and epileptic encephalopathy, 59 | 1 test |
| Developmental and epileptic encephalopathy, 62 | 1 test |
| Developmental and epileptic encephalopathy, 64 | 1 test |
| Developmental and epileptic encephalopathy, 66 | 1 test |
| Developmental and epileptic encephalopathy, 67 | 1 test |
| Developmental and epileptic encephalopathy, 69 | 1 test |
| Developmental and epileptic encephalopathy, 6A | 1 test |
| Developmental and epileptic encephalopathy, 7 | 1 test |
| Developmental and epileptic encephalopathy, 8 | 1 test |
| Developmental and epileptic encephalopathy, 81 | 1 test |
| Diamond-Blackfan anemia 1 | 1 test |
| Diamond-Blackfan anemia 10 | 1 test |
| Diamond-Blackfan anemia 3 | 1 test |
| Diamond-Blackfan anemia 4 | 1 test |
| Diamond-Blackfan anemia 5 | 1 test |
| Diamond-Blackfan anemia 6 | 1 test |
| Diamond-Blackfan anemia 7 | 1 test |
| Diamond-Blackfan anemia 9 | 1 test |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 test |
| Dilated cardiomyopathy 1A | 2 tests |
| Dilated cardiomyopathy 1AA | 2 tests |
| Dilated cardiomyopathy 1BB | 2 tests |
| Dilated cardiomyopathy 1C | 2 tests |
| Dilated cardiomyopathy 1CC | 2 tests |
| Dilated cardiomyopathy 1D | 2 tests |
| Dilated cardiomyopathy 1DD | 2 tests |
| Dilated cardiomyopathy 1E | 2 tests |
| Dilated cardiomyopathy 1EE | 2 tests |
| Dilated cardiomyopathy 1FF | 2 tests |
| Dilated cardiomyopathy 1G | 2 tests |
| Dilated cardiomyopathy 1HH | 2 tests |
| Dilated cardiomyopathy 1I | 2 tests |
| Dilated cardiomyopathy 1II | 2 tests |
| Dilated cardiomyopathy 1JJ | 2 tests |
| Dilated cardiomyopathy 1KK | 2 tests |
| Dilated cardiomyopathy 1L | 2 tests |
| Dilated cardiomyopathy 1NN | 2 tests |
| Dilated cardiomyopathy 1O | 1 test |
| Dilated cardiomyopathy 1P | 2 tests |
| Dilated cardiomyopathy 1R | 1 test |
| Dilated cardiomyopathy 1S | 2 tests |
| Dilated cardiomyopathy 1W | 2 tests |
| Dilated cardiomyopathy 1X | 1 test |
| Dilated cardiomyopathy 1Y | 2 tests |
| Dilated cardiomyopathy 1Z | 2 tests |
| Dilated cardiomyopathy 2A | 2 tests |
| Dilated cardiomyopathy 2B | 2 tests |
| Dilated cardiomyopathy 3B | 2 tests |
| Disorder of organic acid metabolism | 1 test |
| Distal myopathy with posterior leg and anterior hand involvement | 2 tests |
| Distal myopathy, Tateyama type | 1 test |
| Distichiasis-lymphedema syndrome | 2 tests |
| Down syndrome | 2 tests |
| Dubin-Johnson syndrome | 1 test |
| Duchenne muscular dystrophy | 2 tests |
| Dyskeratosis congenita, X-linked | 2 tests |
| Dyskeratosis congenita, autosomal dominant 1 | 2 tests |
| Dyskeratosis congenita, autosomal dominant 2 | 2 tests |
| Dyskeratosis congenita, autosomal dominant 3 | 2 tests |
| Dyskeratosis congenita, autosomal dominant 6 | 2 tests |
| Dyskeratosis congenita, autosomal recessive 1 | 2 tests |
| Dyskeratosis congenita, autosomal recessive 2 | 2 tests |
| Dyskeratosis congenita, autosomal recessive 3 | 2 tests |
| EAST syndrome | 2 tests |
| EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | 1 test |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 test |
| Ehlers-Danlos syndrome, arthrochalasia type | 1 test |
| Ehlers-Danlos syndrome, classic type, 1 | 2 tests |
| Ehlers-Danlos syndrome, classic type, 2 | 2 tests |
| Ehlers-Danlos syndrome, dermatosparaxis type | 1 test |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2 tests |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 test |
| Ehlers-Danlos syndrome, musculocontractural type | 1 test |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 1 test |
| Ehlers-Danlos syndrome, type 4 | 2 tests |
| Elevated circulating creatine kinase activity | 2 tests |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 2 tests |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 tests |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 2 tests |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 2 tests |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 test |
| Epidermal nevus | 1 test |
| Epilepsy with myoclonic atonic seizures | 1 test |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 test |
| Epilepsy, early-onset, vitamin B6-dependent | 1 test |
| Epilepsy, familial focal, with variable foci 1 | 1 test |
| Epilepsy, familial focal, with variable foci 2 | 1 test |
| Epilepsy, familial focal, with variable foci 3 | 1 test |
| Epilepsy, familial focal, with variable foci 4 | 1 test |
| Epilepsy, familial temporal lobe, 1 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 1 test |
| Epilepsy, progressive myoclonic, 1B | 1 test |
| Episodic ataxia type 1 | 1 test |
| Episodic ataxia type 2 | 1 test |
| Episodic kinesigenic dyskinesia 1 | 1 test |
| FG syndrome 1 | 1 test |
| FOXG1 disorder | 1 test |
| Fabry disease | 4 tests |
| Familial hypercholesterolemia | 1 test |
| Familial hypobetalipoproteinemia 1 | 1 test |
| Familial infantile myoclonic epilepsy | 1 test |
| Familial multiple nevi flammei | 1 test |
| Familial pulmonary capillary hemangiomatosis | 1 test |
| Familial spontaneous pneumothorax | 1 test |
| Familial thoracic aortic aneurysm and aortic dissection | 2 tests |
| Fanconi renotubular syndrome 3 | 1 test |
| Farber lipogranulomatosis | 1 test |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 test |
| Floating-Harbor syndrome | 2 tests |
| Fragile X syndrome | 4 tests |
| G6PD deficiency | 1 test |
| GM1 gangliosidosis | 1 test |
| GM3 synthase deficiency | 1 test |
| Galactosylceramide beta-galactosidase deficiency | 1 test |
| Gallbladder disease 4 | 1 test |
| Gamma-aminobutyric acid transaminase deficiency | 1 test |
| Gaucher disease | 3 tests |
| Geleophysic dysplasia 2 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 test |
| Genetic hearing loss | 1 test |
| Genitopatellar syndrome | 3 tests |
| Gilbert syndrome | 1 test |
| Glomuvenous malformation | 1 test |
| Glutaric aciduria, type 1 | 1 test |
| Glycogen storage disease IXb | 1 test |
| Glycogen storage disease IXd | 1 test |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 1 test |
| Glycogen storage disease due to muscle beta-enolase deficiency | 1 test |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 test |
| Glycogen storage disease type III | 2 tests |
| Glycogen storage disease type X | 1 test |
| Glycogen storage disease, type II | 5 tests |
| Glycogen storage disease, type IV | 1 test |
| Glycogen storage disease, type V | 1 test |
| Glycogen storage disease, type VII | 1 test |
| Gorlin syndrome | 1 test |
| Greenberg dysplasia | 1 test |
| Greig cephalopolysyndactyly syndrome | 1 test |
| HNSHA due to aldolase A deficiency | 1 test |
| Hearing loss, X-linked 1 | 1 test |
| Hearing loss, autosomal dominant 37 | 1 test |
| Hearing loss, autosomal dominant 71 | 1 test |
| Hearing loss, autosomal dominant 73 | 1 test |
| Hearing loss, autosomal dominant 78 | 1 test |
| Hearing loss, autosomal dominant 81 | 1 test |
| Hearing loss, autosomal dominant 82 | 1 test |
| Hearing loss, autosomal recessive 106 | 1 test |
| Hearing loss, autosomal recessive 111 | 1 test |
| Hearing loss, autosomal recessive 119 | 1 test |
| Hearing loss, autosomal recessive 57 | 1 test |
| Hearing loss, autosomal recessive 94 | 1 test |
| Heimler syndrome 1 | 1 test |
| Heimler syndrome 2 | 1 test |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 test |
| Hereditary disease | 10 tests |
| Hereditary fructosuria | 1 test |
| Hereditary lymphedema type I | 1 test |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | 1 test |
| Hereditary pancreatitis | 1 test |
| Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 2 tests |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 test |
| Hermansky-Pudlak syndrome 1 | 3 tests |
| Hermansky-Pudlak syndrome 10 | 2 tests |
| Hermansky-Pudlak syndrome 2 | 3 tests |
| Hermansky-Pudlak syndrome 3 | 3 tests |
| Hermansky-Pudlak syndrome 4 | 3 tests |
| Hermansky-Pudlak syndrome 5 | 3 tests |
| Hermansky-Pudlak syndrome 6 | 3 tests |
| Hermansky-Pudlak syndrome 7 | 3 tests |
| Hermansky-Pudlak syndrome 8 | 1 test |
| Hermansky-Pudlak syndrome 9 | 3 tests |
| Heterotopia, periventricular, X-linked dominant | 1 test |
| High myopia-sensorineural deafness syndrome | 1 test |
| Houge-Janssens syndrome 3 | 1 test |
| Hunter-McAlpine craniosynostosis | 2 tests |
| Hurler syndrome | 2 tests |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 test |
| Hypercholanemia, familial | 1 test |
| Hypercholesterolemia, autosomal dominant, 3 | 1 test |
| Hypercholesterolemia, autosomal dominant, type B | 1 test |
| Hypercholesterolemia, familial, 1 | 2 tests |
| Hypercholesterolemia, familial, 4 | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 test |
| Hyperproinsulinemia | 1 test |
| Hypertrophic cardiomyopathy 1 | 2 tests |
| Hypertrophic cardiomyopathy 10 | 2 tests |
| Hypertrophic cardiomyopathy 11 | 2 tests |
| Hypertrophic cardiomyopathy 12 | 2 tests |
| Hypertrophic cardiomyopathy 13 | 2 tests |
| Hypertrophic cardiomyopathy 14 | 2 tests |
| Hypertrophic cardiomyopathy 15 | 2 tests |
| Hypertrophic cardiomyopathy 16 | 2 tests |
| Hypertrophic cardiomyopathy 17 | 1 test |
| Hypertrophic cardiomyopathy 18 | 2 tests |
| Hypertrophic cardiomyopathy 2 | 2 tests |
| Hypertrophic cardiomyopathy 20 | 2 tests |
| Hypertrophic cardiomyopathy 25 | 2 tests |
| Hypertrophic cardiomyopathy 26 | 2 tests |
| Hypertrophic cardiomyopathy 3 | 2 tests |
| Hypertrophic cardiomyopathy 4 | 2 tests |
| Hypertrophic cardiomyopathy 6 | 2 tests |
| Hypertrophic cardiomyopathy 7 | 2 tests |
| Hypertrophic cardiomyopathy 8 | 2 tests |
| Hypertrophic cardiomyopathy 9 | 2 tests |
| Hypochondrogenesis | 1 test |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 test |
| Hypoplastic left heart syndrome 2 | 1 test |
| Hypothyroidism, congenital, nongoitrous, 5 | 1 test |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 test |
| Hypotrichosis-lymphedema-telangiectasia syndrome | 2 tests |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 test |
| Idiopathic generalized epilepsy | 1 test |
| Inborn mitochondrial myopathy | 4 tests |
| Infantile epileptic dyskinetic encephalopathy | 1 test |
| Infantile nephronophthisis | 2 tests |
| Infantile onset spinocerebellar ataxia | 1 test |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 test |
| Intellectual developmental disorder with seizures and language delay | 2 tests |
| Intellectual disability, CASK-related, X-linked | 1 test |
| Intellectual disability, X-linked 1 | 1 test |
| Intellectual disability, X-linked 102 | 1 test |
| Intellectual disability, X-linked 49 | 1 test |
| Intellectual disability, X-linked 93 | 1 test |
| Intellectual disability, X-linked 99 | 1 test |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 test |
| Intellectual disability, autosomal dominant 1 | 1 test |
| Intellectual disability, autosomal dominant 38 | 1 test |
| Intellectual disability, autosomal dominant 42 | 1 test |
| Intellectual disability, autosomal dominant 5 | 1 test |
| Intellectual disability, autosomal dominant 56 | 1 test |
| Interstitial lung disease 2 | 2 tests |
| Interstitial lung disease due to ABCA3 deficiency | 2 tests |
| Isolated neonatal sclerosing cholangitis | 1 test |
| Jervell and Lange-Nielsen syndrome 1 | 2 tests |
| Jervell and Lange-Nielsen syndrome 2 | 2 tests |
| Joubert syndrome 28 | 1 test |
| Joubert syndrome 9 | 1 test |
| Joubert syndrome with renal defect | 1 test |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2 tests |
| KBG syndrome | 1 test |
| Kabuki syndrome | 3 tests |
| Kartagener syndrome | 1 test |
| Kilquist syndrome | 1 test |
| Kleefstra syndrome | 2 tests |
| Kleefstra syndrome 1 | 1 test |
| Koolen-de Vries syndrome | 3 tests |
| LEOPARD syndrome 2 | 2 tests |
| Lafora disease | 1 test |
| Landau-Kleffner syndrome | 1 test |
| Leber congenital amaurosis with early-onset deafness | 1 test |
| Leber optic atrophy | 3 tests |
| Left ventricular noncompaction 1 | 2 tests |
| Left ventricular noncompaction 10 | 2 tests |
| Left ventricular noncompaction 8 | 2 tests |
| Legius syndrome | 1 test |
| Lethal congenital glycogen storage disease of heart | 2 tests |
| Lethal multiple pterygium syndrome | 1 test |
| Leucine-induced hypoglycemia | 1 test |
| Liddle syndrome | 1 test |
| Lipoic acid synthetase deficiency | 1 test |
| Lissencephaly due to LIS1 mutation | 1 test |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 test |
| Loeys-Dietz syndrome 1 | 1 test |
| Loeys-Dietz syndrome 2 | 2 tests |
| Loeys-Dietz syndrome 4 | 2 tests |
| Long QT syndrome 1 | 1 test |
| Long QT syndrome 10 | 1 test |
| Long QT syndrome 11 | 1 test |
| Long QT syndrome 12 | 1 test |
| Long QT syndrome 13 | 1 test |
| Long QT syndrome 14 | 1 test |
| Long QT syndrome 15 | 1 test |
| Long QT syndrome 16 | 1 test |
| Long QT syndrome 2 | 1 test |
| Long QT syndrome 3 | 2 tests |
| Long QT syndrome 5 | 1 test |
| Long QT syndrome 6 | 1 test |
| Long QT syndrome 9 | 1 test |
| Low phospholipid associated cholelithiasis | 1 test |
| Lucey-Driscoll syndrome | 1 test |
| Lymphangiomyomatosis | 1 test |
| Lymphatic malformation 3 | 1 test |
| Lymphatic malformation 4 | 1 test |
| Lymphatic malformation 6 | 1 test |
| Lymphedema-posterior choanal atresia syndrome | 1 test |
| Lysinuric protein intolerance | 1 test |
| MELAS syndrome | 5 tests |
| MERRF syndrome | 4 tests |
| MYH7-related skeletal myopathy | 2 tests |
| Macrocephaly, macrosomia, facial dysmorphism syndrome | 1 test |
| Malan overgrowth syndrome | 1 test |
| Malignant hyperthermia, susceptibility to, 1 | 1 test |
| Marfan syndrome | 3 tests |
| Marinesco-Sjögren syndrome | 1 test |
| Marshall syndrome | 1 test |
| Maternally-inherited spastic paraplegia | 3 tests |
| Maturity-onset diabetes of the young type 1 | 1 test |
| Maturity-onset diabetes of the young type 10 | 1 test |
| Maturity-onset diabetes of the young type 11 | 1 test |
| Maturity-onset diabetes of the young type 13 | 1 test |
| Maturity-onset diabetes of the young type 14 | 1 test |
| Maturity-onset diabetes of the young type 2 | 1 test |
| Maturity-onset diabetes of the young type 3 | 1 test |
| Maturity-onset diabetes of the young type 4 | 1 test |
| Maturity-onset diabetes of the young type 6 | 1 test |
| Maturity-onset diabetes of the young type 7 | 1 test |
| Maturity-onset diabetes of the young type 8 | 1 test |
| Maturity-onset diabetes of the young type 9 | 1 test |
| Meckel syndrome, type 1 | 1 test |
| Meckel syndrome, type 2 | 1 test |
| Meckel syndrome, type 6 | 1 test |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 tests |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 test |
| Melnick-Needles syndrome | 1 test |
| Metabolic myopathy due to lactate transporter defect | 1 test |
| Metachromatic leukodystrophy | 1 test |
| Mevalonic aciduria | 1 test |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 test |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 test |
| Microcephaly-capillary malformation syndrome | 1 test |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 test |
| Mitochondrial DNA depletion syndrome 1 | 1 test |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 2 tests |
| Mitochondrial DNA depletion syndrome 4b | 1 test |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 test |
| Mitochondrial DNA depletion syndrome 8a | 1 test |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 test |
| Mitochondrial DNA depletion syndrome, myopathic form | 1 test |
| Mitochondrial DNA-Associated Leigh Syndrome and NARP | 3 tests |
| Mitochondrial complex IV deficiency, nuclear type 1 | 3 tests |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | 1 test |
| Mitochondrial disease | 3 tests |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 test |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 1 test |
| Mitochondrial non-syndromic sensorineural hearing loss | 4 tests |
| Mitochondrial trifunctional protein deficiency | 2 tests |
| Miyoshi muscular dystrophy 1 | 1 test |
| Motor developmental delay due to 14q32.2 paternally expressed gene defect | 3 tests |
| Mowat-Wilson syndrome | 1 test |
| Mucolipidosis type II | 1 test |
| Mucopolysaccharidosis type 6 | 1 test |
| Mucopolysaccharidosis type 7 | 2 tests |
| Mucopolysaccharidosis, MPS-II | 2 tests |
| Mucopolysaccharidosis, MPS-III-A | 1 test |
| Mucopolysaccharidosis, MPS-III-B | 1 test |
| Mucopolysaccharidosis, MPS-III-C | 1 test |
| Mucopolysaccharidosis, MPS-III-D | 1 test |
| Mucopolysaccharidosis, MPS-IV-A | 2 tests |
| Mucopolysaccharidosis, MPS-IV-B | 1 test |
| Multiple acyl-CoA dehydrogenase deficiency | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 1 test |
| Multiple cutaneous and mucosal venous malformations | 1 test |
| Multiple epiphyseal dysplasia | 1 test |
| Multiple sulfatase deficiency | 1 test |
| Multisystemic smooth muscle dysfunction syndrome | 1 test |
| Muscle AMP deaminase deficiency | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 test |
| Muscular dystrophy-dystroglycanopathy type B5 | 1 test |
| Myofibrillar myopathy 2 | 2 tests |
| Myofibrillar myopathy 4 | 2 tests |
| Myofibrillar myopathy 5 | 2 tests |
| Myofibrillar myopathy 6 | 2 tests |
| Myoglobinuria, acute recurrent, autosomal recessive | 1 test |
| Myoglobinuria, recurrent | 3 tests |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 test |
| Myopathy, myosin storage, autosomal recessive | 2 tests |
| Myopathy, reducing body, X-linked, childhood-onset | 1 test |
| Myopathy, reducing body, X-linked, early-onset, severe | 1 test |
| Myosin storage myopathy | 2 tests |
| NARP syndrome | 1 test |
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | 2 tests |
| Naxos disease | 2 tests |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 1 test |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 1 test |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 test |
| Nephronophthisis 1 | 1 test |
| Nephronophthisis 19 | 1 test |
| Nephronophthisis 3 | 1 test |
| Nephronophthisis 4 | 1 test |
| Neurodegeneration with brain iron accumulation 5 | 1 test |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 test |
| Neurodevelopmental disorder with hearing loss and spasticity | 1 test |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 test |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 1 test |
| Neurodevelopmental disorder with involuntary movements | 1 test |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 1 test |
| Neurodevelopmental disorder with poor language and loss of hand skills | 1 test |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 test |
| Neurofibromatosis | 1 test |
| Neurofibromatosis, type 1 | 1 test |
| Neuronal ceroid lipofuscinosis | 1 test |
| Neuronal ceroid lipofuscinosis 10 | 1 test |
| Neuronal ceroid lipofuscinosis 2 | 1 test |
| Neuronal ceroid lipofuscinosis 3 | 1 test |
| Neuronal ceroid lipofuscinosis 5 | 1 test |
| Neuronal ceroid lipofuscinosis 7 | 1 test |
| Neuronal ceroid lipofuscinosis 8 | 1 test |
| Nicolaides-Baraitser syndrome | 2 tests |
| Niemann-Pick disease, type A | 2 tests |
| Niemann-Pick disease, type B | 2 tests |
| Niemann-Pick disease, type C1 | 1 test |
| Niemann-Pick disease, type C2 | 1 test |
| Non-syndromic X-linked intellectual disability | 1 test |
| Noonan syndrome | 1 test |
| Noonan syndrome 1 | 3 tests |
| Noonan syndrome 10 | 1 test |
| Noonan syndrome 3 | 2 tests |
| Noonan syndrome 4 | 2 tests |
| Noonan syndrome 5 | 3 tests |
| Noonan syndrome 6 | 2 tests |
| Noonan syndrome 7 | 2 tests |
| Noonan syndrome 8 | 2 tests |
| Noonan syndrome 9 | 1 test |
| Noonan syndrome with multiple lentigines | 1 test |
| Noonan syndrome-like disorder with loose anagen hair 1 | 2 tests |
| Norman-Roberts syndrome | 1 test |
| Ocular albinism, type I | 1 test |
| Oculocutaneous albinism type 1A | 1 test |
| Oculocutaneous albinism type 3 | 1 test |
| Oculocutaneous albinism type 4 | 1 test |
| Oculocutaneous albinism type 7 | 2 tests |
| Orofaciodigital syndrome I | 1 test |
| Osteogenesis imperfecta | 2 tests |
| Oto-palato-digital syndrome, type II | 1 test |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2 tests |
| PGM1-congenital disorder of glycosylation | 1 test |
| PHARC syndrome | 1 test |
| PHGDH deficiency | 1 test |
| PMM2-congenital disorder of glycosylation | 1 test |
| POLG-related disorder | 1 test |
| PTEN hamartoma tumor syndrome | 2 tests |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2 tests |
| Paramyotonia congenita of Von Eulenburg | 1 test |
| Paternal uniparental disomy of chromosome 14 | 3 tests |
| Pearson syndrome | 1 test |
| Pelizaeus-Merzbacher disease | 1 test |
| Pendred syndrome | 1 test |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 test |
| Peroxisome biogenesis disorder | 2 tests |
| Peroxisome biogenesis disorder 10A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 10B | 1 test |
| Peroxisome biogenesis disorder 11A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 11B | 1 test |
| Peroxisome biogenesis disorder 12A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 13A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 14B | 1 test |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 1B | 1 test |
| Peroxisome biogenesis disorder 2A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 2B | 1 test |
| Peroxisome biogenesis disorder 3A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 4A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 4B | 2 tests |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 5B | 1 test |
| Peroxisome biogenesis disorder 6A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 6B | 1 test |
| Peroxisome biogenesis disorder 7A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 7B | 1 test |
| Peroxisome biogenesis disorder 8A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 8B | 1 test |
| Peroxisome biogenesis disorder 9B | 1 test |
| Peroxisome biogenesis disorder type 3B | 1 test |
| Perrault syndrome 1 | 1 test |
| Perrault syndrome 2 | 1 test |
| Perrault syndrome 3 | 1 test |
| Perrault syndrome 4 | 1 test |
| Perrault syndrome 5 | 1 test |
| Persistent fetal circulation syndrome | 1 test |
| Phenylketonuria | 1 test |
| Pili torti-deafness syndrome | 1 test |
| Pitt-Hopkins syndrome | 1 test |
| Pitt-Hopkins-like syndrome 2 | 1 test |
| Poikiloderma with neutropenia | 2 tests |
| Polycystic kidney disease 2 | 1 test |
| Polyendocrine-polyneuropathy syndrome | 1 test |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 1 test |
| Pontocerebellar hypoplasia type 2A | 1 test |
| Prader-Willi syndrome | 4 tests |
| Primary ciliary dyskinesia 10 | 1 test |
| Primary ciliary dyskinesia 11 | 1 test |
| Primary ciliary dyskinesia 12 | 1 test |
| Primary ciliary dyskinesia 13 | 1 test |
| Primary ciliary dyskinesia 14 | 1 test |
| Primary ciliary dyskinesia 15 | 1 test |
| Primary ciliary dyskinesia 16 | 1 test |
| Primary ciliary dyskinesia 17 | 1 test |
| Primary ciliary dyskinesia 18 | 1 test |
| Primary ciliary dyskinesia 19 | 1 test |
| Primary ciliary dyskinesia 2 | 1 test |
| Primary ciliary dyskinesia 20 | 1 test |
| Primary ciliary dyskinesia 21 | 1 test |
| Primary ciliary dyskinesia 22 | 1 test |
| Primary ciliary dyskinesia 23 | 1 test |
| Primary ciliary dyskinesia 24 | 1 test |
| Primary ciliary dyskinesia 25 | 1 test |
| Primary ciliary dyskinesia 26 | 1 test |
| Primary ciliary dyskinesia 27 | 1 test |
| Primary ciliary dyskinesia 28 | 1 test |
| Primary ciliary dyskinesia 29 | 1 test |
| Primary ciliary dyskinesia 3 | 1 test |
| Primary ciliary dyskinesia 30 | 1 test |
| Primary ciliary dyskinesia 32 | 1 test |
| Primary ciliary dyskinesia 33 | 1 test |
| Primary ciliary dyskinesia 34 | 1 test |
| Primary ciliary dyskinesia 35 | 1 test |
| Primary ciliary dyskinesia 6 | 1 test |
| Primary ciliary dyskinesia 7 | 1 test |
| Primary ciliary dyskinesia 9 | 1 test |
| Primary dilated cardiomyopathy | 1 test |
| Primary familial hypertrophic cardiomyopathy | 3 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 1 test |
| Progressive familial heart block type IB | 1 test |
| Progressive familial heart block, type 1A | 2 tests |
| Progressive familial intrahepatic cholestasis type 1 | 1 test |
| Progressive familial intrahepatic cholestasis type 2 | 1 test |
| Progressive familial intrahepatic cholestasis type 3 | 1 test |
| Progressive myoclonic epilepsy type 3 | 1 test |
| Progressive myoclonic epilepsy type 5 | 1 test |
| Progressive myoclonic epilepsy type 6 | 1 test |
| Progressive myoclonic epilepsy type 7 | 1 test |
| Progressive myositis ossificans | 1 test |
| Progressive sclerosing poliodystrophy | 1 test |
| Prolidase deficiency | 1 test |
| Proteus syndrome | 1 test |
| Proteus-like syndrome | 1 test |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 1 test |
| Pseudohypoparathyroidism | 1 test |
| Pseudohypoparathyroidism type 1B | 1 test |
| Pseudohypoparathyroidism type 1C | 1 test |
| Pseudohypoparathyroidism type I A | 1 test |
| Pulmonary disease, chronic obstructive, susceptibility to | 2 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 2 tests |
| Pulmonary hypertension, primary, 2 | 1 test |
| Pulmonary hypertension, primary, 3 | 1 test |
| Pulmonary hypertension, primary, 4 | 1 test |
| Pulmonary hypertension, primary, 5 | 1 test |
| Pulmonary venoocclusive disease 1 | 1 test |
| Pyridoxal phosphate-responsive seizures | 1 test |
| Pyridoxine-dependent epilepsy | 1 test |
| Pyruvate kinase deficiency of red cells | 1 test |
| Rahman syndrome | 2 tests |
| Rajab interstitial lung disease with brain calcifications 1 | 2 tests |
| Renal carnitine transport defect | 2 tests |
| Renal cysts and diabetes syndrome | 1 test |
| Renal tubular acidosis with progressive nerve deafness | 1 test |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 1 test |
| Rett syndrome | 3 tests |
| Rienhoff syndrome | 1 test |
| Rippling muscle disease | 1 test |
| Rippling muscle disease 2 | 1 test |
| Rubinstein-Taybi syndrome | 2 tests |
| Russell-Silver syndrome | 2 tests |
| SLC35A2-congenital disorder of glycosylation | 1 test |
| SMARCB1-related schwannomatosis | 1 test |
| STAT3-related early-onset multisystem autoimmune disease | 1 test |
| STING-associated vasculopathy with onset in infancy | 2 tests |
| SUDDEN INFANT DEATH SYNDROME | 1 test |
| Saethre-Chotzen syndrome | 1 test |
| Schuurs-Hoeijmakers syndrome | 1 test |
| Senior-Loken syndrome 1 | 1 test |
| Senior-Loken syndrome 4 | 1 test |
| Senior-loken syndrome 3 | 1 test |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 2 tests |
| Severe X-linked mitochondrial encephalomyopathy | 1 test |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 2 tests |
| Short QT syndrome type 1 | 1 test |
| Short-rib thoracic dysplasia 14 with polydactyly | 1 test |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 1 test |
| Shprintzen-Goldberg syndrome | 2 tests |
| Sialic acid storage disease, severe infantile type | 1 test |
| Sialidosis type 1 | 1 test |
| Sialidosis type 2 | 1 test |
| Sick sinus syndrome 1 | 2 tests |
| Sick sinus syndrome 2, autosomal dominant | 1 test |
| Silver-Russell syndrome 1 | 2 tests |
| Simpson-Golabi-Behmel syndrome type 1 | 1 test |
| Simpson-Golabi-Behmel syndrome type 2 | 1 test |
| Sinoatrial node dysfunction and deafness | 1 test |
| Sitosterolemia 1 | 1 test |
| Sitosterolemia 2 | 1 test |
| Skeletal dysplasia | 1 test |
| Skin/hair/eye pigmentation, variation in, 4 | 1 test |
| Smith-Lemli-Opitz syndrome | 2 tests |
| Sotos syndrome | 4 tests |
| Sphingomyelin/cholesterol lipidosis | 2 tests |
| Spinal muscular atrophy | 2 tests |
| Spinocerebellar ataxia 7 | 2 tests |
| Spinocerebellar ataxia type 1 | 2 tests |
| Spinocerebellar ataxia type 2 | 2 tests |
| Spinocerebellar ataxia type 25 | 1 test |
| Spinocerebellar ataxia type 6 | 2 tests |
| Spinocerebellar ataxia, autosomal recessive 24 | 1 test |
| Spondyloepiphyseal dysplasia congenita | 1 test |
| Steinert myotonic dystrophy syndrome | 1 test |
| Sterol carrier protein 2 deficiency | 1 test |
| Stickler syndrome type 2 | 2 tests |
| Stickler syndrome, type 4 | 1 test |
| Stickler syndrome, type 5 | 1 test |
| Stickler syndrome, type 6 | 1 test |
| Stromme syndrome | 1 test |
| Sturge-Weber syndrome | 1 test |
| Succinate-semialdehyde dehydrogenase deficiency | 1 test |
| Sudden cardiac failure, alcohol-induced | 2 tests |
| Sudden cardiac failure, infantile | 2 tests |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 | 1 test |
| Supravalvar aortic stenosis | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 1 | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 2 | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 4 | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 5 | 1 test |
| Syndromic X-linked intellectual disability 14 | 1 test |
| Syndromic X-linked intellectual disability Claes-Jensen type | 2 tests |
| Syndromic X-linked intellectual disability Hedera type | 1 test |
| Syndromic X-linked intellectual disability Nascimento type | 2 tests |
| Syndromic X-linked intellectual disability Snyder type | 1 test |
| TWIST1-related craniosynostosis | 1 test |
| Tatton-Brown-Rahman overgrowth syndrome | 1 test |
| Tay-Sachs disease | 1 test |
| Telangiectasia, hereditary hemorrhagic, type 1 | 2 tests |
| Telangiectasia, hereditary hemorrhagic, type 2 | 2 tests |
| Telangiectasia, hereditary hemorrhagic, type 5 | 2 tests |
| Temple-Baraitser syndrome | 1 test |
| Tetralogy of Fallot | 1 test |
| Thanatophoric dysplasia type 1 | 2 tests |
| Timothy syndrome | 1 test |
| Trichohepatoenteric syndrome 1 | 1 test |
| Tuberous sclerosis 1 | 2 tests |
| Tuberous sclerosis 2 | 2 tests |
| Type 1 diabetes mellitus 2 | 1 test |
| Type 2 diabetes mellitus | 1 test |
| Tyrosinase-positive oculocutaneous albinism | 1 test |
| Tyrosinemia type I | 1 test |
| Uniparental disomy of 7 | 1 test |
| Unverricht-Lundborg syndrome | 1 test |
| Usher syndrome type 1 | 1 test |
| Usher syndrome type 1C | 1 test |
| Usher syndrome type 1D | 1 test |
| Usher syndrome type 1G | 1 test |
| Usher syndrome type 2A | 1 test |
| Usher syndrome type 2C | 1 test |
| Usher syndrome type 2D | 1 test |
| Usher syndrome type 3 | 1 test |
| Usher syndrome, type 4 | 1 test |
| Ventricular septal defect 3 | 1 test |
| Very long chain acyl-CoA dehydrogenase deficiency | 2 tests |
| Waardenburg syndrome 2F | 1 test |
| Waardenburg syndrome type 1 | 1 test |
| Waardenburg syndrome type 2A | 1 test |
| Waardenburg syndrome type 2D | 1 test |
| Waardenburg syndrome type 2E | 1 test |
| Waardenburg syndrome type 3 | 1 test |
| Waardenburg syndrome type 4A | 1 test |
| Waardenburg syndrome type 4B | 1 test |
| Waardenburg syndrome type 4C | 1 test |
| Weaver syndrome | 3 tests |
| Wiedemann-Steiner syndrome | 2 tests |
| Williams syndrome | 2 tests |
| Wolff-Parkinson-White pattern | 2 tests |
| Wolfram syndrome 2 | 1 test |
| Wolfram-like syndrome | 1 test |
| Wolman disease | 2 tests |
| X inactivation, familial skewed, 1 | 1 test |
| X inactivation, familial skewed, 2 | 1 test |
| X-linked Alport syndrome | 1 test |
| X-linked Opitz G/BBB syndrome | 1 test |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 1 test |
| X-linked intellectual disability Cabezas type | 2 tests |
| X-linked intellectual disability, Cantagrel type | 1 test |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 test |
| X-linked mixed hearing loss with perilymphatic gusher | 1 test |
| X-linked myopathy with postural muscle atrophy | 1 test |
| X-linked scapuloperoneal muscular dystrophy | 1 test |
| Zellweger spectrum disorders | 1 test |
| Zimmermann-Laband syndrome 1 | 1 test |
| Zimmermann-Laband syndrome 2 | 1 test |