Baylor Genetics
General information
Baylor Genetics
2450 Holcombe, Grand Blvd. - Sample Receiving Dock
Houston
Texas
United States - 77021-2024
https://www.baylorgenetics.com/
Organization ID: 1006
2450 Holcombe, Grand Blvd. - Sample Receiving Dock
Houston
Texas
United States - 77021-2024
https://www.baylorgenetics.com/
Organization ID: 1006
Personnel
- Jill Mokry, Contact
Phone: 713-798-5440
Email: [email protected] - Weimin Bi, Lab Director
Phone: 713-798-3183
Email: [email protected] - Brady Douglas, Informatics staff
Phone: 713-798-8616
Email: [email protected] - Pengfei Liu, Lab Director
Phone: 713-798-5122
Email: [email protected] - Kannabiran Nandakumar, Informatics staff
Phone: 859-361-1029
Email: [email protected] - Michael Santana, Contact
Phone: 281-849-7064
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 51197
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAAS | 1 | Feb 21, 2021 |
| AAGAB | 1 | Feb 21, 2021 |
| AARS1 | 7 | Oct 2, 2023 |
| AARS2 | 15 | Jun 4, 2024 |
| AASS | 1 | Feb 21, 2021 |
| ABAT | 14 | Jun 5, 2024 |
| ABCA1 | 10 | Oct 2, 2023 |
| ABCA2 | 1 | Feb 19, 2023 |
| ABCA3 | 4 | Mar 5, 2021 |
| ABCA4 | 6 | Mar 5, 2021 |
| ABCB1 | 2 | Mar 5, 2021 |
| ABCB11 | 119 | Jun 5, 2024 |
| ABCB4 | 14 | Jun 4, 2024 |
| ABCB7 | 1 | Oct 2, 2023 |
| ABCC2 | 5 | Feb 21, 2021 |
| ABCC6 | 10 | Oct 2, 2023 |
| ABCC8 | 181 | Jun 5, 2024 |
| ABCC9 | 5 | Oct 2, 2023 |
| ABCD1 | 33 | Jun 5, 2024 |
| ABCD4 | 1 | Feb 19, 2023 |
| ABCG5 | 2 | Feb 21, 2021 |
| ABCG8 | 2 | Mar 5, 2021 |
| ABHD12 | 2 | Mar 5, 2021 |
| ABHD14A-ACY1 | 6 | Mar 5, 2021 |
| ABHD16A | 1 | Dec 14, 2023 |
| ABL1 | 8 | Feb 19, 2023 |
| ABRAXAS1 | 1 | Dec 7, 2023 |
| ACACA | 1 | Feb 21, 2021 |
| ACAD11 | 1 | Feb 21, 2021 |
| ACAD8 | 7 | Mar 12, 2023 |
| ACAD9 | 96 | Jun 5, 2024 |
| ACADM | 155 | Jun 5, 2024 |
| ACADS | 4 | Jun 4, 2024 |
| ACADSB | 7 | Mar 12, 2023 |
| ACADVL | 202 | Jun 5, 2024 |
| ACAN | 5 | Mar 5, 2021 |
| ACAT1 | 71 | Jun 5, 2024 |
| ACBD6 | 1 | Jun 4, 2024 |
| ACD | 1 | Mar 5, 2021 |
| ACE | 4 | Jun 4, 2024 |
| ACER3 | 1 | Feb 21, 2021 |
| ACO2 | 8 | Oct 2, 2023 |
| ACOX1 | 25 | Jun 5, 2024 |
| ACOX2 | 1 | Mar 5, 2021 |
| ACP5 | 3 | Mar 5, 2021 |
| ACSF3 | 115 | Jun 5, 2024 |
| ACSL4 | 3 | Jun 4, 2024 |
| ACTA1 | 13 | Jun 4, 2024 |
| ACTA2 | 3 | Feb 19, 2023 |
| ACTA2-AS1 | 1 | Feb 19, 2023 |
| ACTB | 17 | Mar 12, 2023 |
| ACTC1 | 8 | Feb 19, 2023 |
| ACTG1 | 5 | Jun 4, 2024 |
| ACTG2 | 3 | Feb 19, 2023 |
| ACTL6A | 5 | Jul 1, 2021 |
| ACTL6B | 5 | Feb 19, 2023 |
| ACTN1 | 2 | Feb 19, 2023 |
| ACTN2 | 3 | Feb 21, 2021 |
| ACTN4 | 2 | Mar 5, 2021 |
| ACVR1 | 1 | Mar 14, 2019 |
| ACVR2B | 2 | Feb 19, 2023 |
| ACVRL1 | 5 | Jun 4, 2024 |
| ACY1 | 6 | Mar 5, 2021 |
| ADA | 80 | Jun 5, 2024 |
| ADA2 | 8 | Feb 19, 2023 |
| ADAM17 | 2 | Mar 5, 2021 |
| ADAMTS10 | 2 | Mar 5, 2021 |
| ADAMTS13 | 6 | Mar 12, 2023 |
| ADAMTS17 | 1 | Mar 5, 2021 |
| ADAMTS19 | 2 | Jun 4, 2024 |
| ADAMTS2 | 7 | Mar 5, 2021 |
| ADAMTSL4 | 1 | Feb 19, 2023 |
| ADAMTSL4-AS2 | 1 | Feb 19, 2023 |
| ADAR | 7 | Oct 2, 2023 |
| ADAT3 | 7 | Mar 5, 2021 |
| ADCY1 | 1 | Feb 21, 2021 |
| ADCY5 | 6 | Dec 14, 2023 |
| ADD3 | 3 | Feb 21, 2021 |
| ADGRG1 | 3 | Mar 5, 2021 |
| ADGRG2 | 1 | Feb 21, 2021 |
| ADGRG6 | 1 | Feb 21, 2021 |
| ADGRL1 | 1 | Dec 14, 2023 |
| ADGRL1-AS1 | 1 | Dec 14, 2023 |
| ADGRV1 | 13 | Dec 14, 2023 |
| ADK | 1 | Feb 21, 2021 |
| ADNP | 8 | Jun 4, 2024 |
| ADNP-AS1 | 2 | Feb 21, 2021 |
| ADPRS | 3 | Feb 21, 2021 |
| ADRA2B | 3 | Mar 5, 2021 |
| ADSL | 9 | Oct 2, 2023 |
| ADSS1 | 2 | Feb 19, 2023 |
| AEBP1 | 3 | Mar 5, 2021 |
| AFF2 | 7 | Feb 19, 2023 |
| AFF3 | 2 | Oct 2, 2023 |
| AFF4 | 3 | Mar 5, 2021 |
| AFG2A | 8 | Feb 19, 2023 |
| AFG3L2 | 4 | Mar 5, 2021 |
| AGA | 48 | Jun 5, 2024 |
| AGA-DT | 3 | Jun 5, 2024 |
| AGK | 4 | Mar 5, 2021 |
| AGL | 180 | Jun 5, 2024 |
| AGPAT2 | 2 | Nov 14, 2016 |
| AGPS | 18 | Jun 5, 2024 |
| AGRN | 17 | Jun 4, 2024 |
| AGTPBP1 | 3 | Feb 21, 2021 |
| AGXT | 80 | Jun 5, 2024 |
| AHDC1 | 14 | Oct 2, 2023 |
| AHI1 | 5 | Feb 19, 2023 |
| AHSG | 2 | Mar 5, 2021 |
| AIFM1 | 5 | Dec 7, 2023 |
| AIMP1 | 1 | Oct 2, 2023 |
| AIMP2 | 1 | Feb 19, 2023 |
| AIP | 68 | Jun 5, 2024 |
| AIRE | 2 | Mar 5, 2021 |
| AK2 | 4 | Mar 5, 2021 |
| AKAP9 | 7 | Feb 19, 2023 |
| AKR1D1 | 3 | Feb 21, 2021 |
| AKT1 | 1 | Mar 5, 2021 |
| AKT2 | 1 | Mar 5, 2021 |
| ALAD | 1 | Mar 5, 2021 |
| ALB | 1 | Feb 19, 2023 |
| ALDH18A1 | 8 | Mar 12, 2023 |
| ALDH3A2 | 7 | Oct 2, 2023 |
| ALDH4A1 | 4 | Jun 4, 2024 |
| ALDH5A1 | 4 | Feb 19, 2023 |
| ALDH6A1 | 1 | Mar 5, 2021 |
| ALDH7A1 | 6 | Jun 4, 2024 |
| ALDOB | 43 | Jun 5, 2024 |
| ALG1 | 5 | Oct 2, 2023 |
| ALG11 | 3 | Mar 5, 2021 |
| ALG12 | 3 | Feb 21, 2021 |
| ALG13 | 5 | Feb 19, 2023 |
| ALG2 | 5 | Jun 4, 2024 |
| ALG3 | 5 | Feb 19, 2023 |
| ALG6 | 58 | Jun 5, 2024 |
| ALG8 | 7 | Oct 2, 2023 |
| ALG9 | 5 | Feb 19, 2023 |
| ALK | 354 | Jun 5, 2024 |
| ALKBH8 | 1 | Feb 19, 2023 |
| ALMS1 | 17 | Feb 19, 2023 |
| ALOX12B | 8 | Jun 4, 2024 |
| ALOXE3 | 2 | Oct 2, 2023 |
| ALPI | 2 | Jun 4, 2024 |
| ALPK1 | 1 | Feb 19, 2023 |
| ALPK3 | 7 | Oct 2, 2023 |
| ALPL | 164 | Jun 5, 2024 |
| ALS2 | 5 | Feb 19, 2023 |
| ALX4 | 1 | Mar 5, 2021 |
| AMACR | 1 | Feb 21, 2021 |
| AMER1 | 5 | Dec 14, 2023 |
| AMMECR1 | 1 | Oct 2, 2023 |
| AMN | 1 | Mar 5, 2021 |
| AMPD1 | 3 | Mar 5, 2021 |
| AMPD2 | 5 | Feb 19, 2023 |
| AMT | 47 | Jun 5, 2024 |
| ANAPC7 | 1 | Feb 19, 2023 |
| ANK1 | 4 | Oct 2, 2023 |
| ANK2 | 5 | Mar 5, 2021 |
| ANK3 | 12 | Oct 2, 2023 |
| ANKLE2 | 2 | Feb 21, 2021 |
| ANKRD11 | 48 | Oct 2, 2023 |
| ANKRD17 | 1 | Feb 19, 2023 |
| ANKRD26 | 5 | Dec 7, 2023 |
| ANKS6 | 3 | Mar 5, 2021 |
| ANLN | 2 | Feb 19, 2023 |
| ANO10 | 3 | Mar 5, 2021 |
| ANO5 | 6 | Oct 2, 2023 |
| ANOS1 | 2 | Feb 21, 2021 |
| ANTXR1 | 1 | Mar 5, 2021 |
| ANTXR2 | 5 | Mar 5, 2021 |
| ANXA11 | 2 | Jun 4, 2024 |
| AOPEP | 62 | Jun 5, 2024 |
| AP2S1 | 1 | Feb 21, 2021 |
| AP3B1 | 21 | Sep 12, 2024 |
| AP3B2 | 7 | Mar 5, 2021 |
| AP4B1 | 6 | Mar 5, 2021 |
| AP4B1-AS1 | 5 | Mar 5, 2021 |
| AP4E1 | 4 | Oct 2, 2023 |
| AP4M1 | 10 | Feb 19, 2023 |
| AP4S1 | 2 | Mar 5, 2021 |
| AP5Z1 | 14 | Oct 2, 2023 |
| APBB1 | 2 | Jun 5, 2024 |
| APC | 974 | Jun 5, 2024 |
| APC2 | 8 | Feb 19, 2023 |
| APOA5 | 2 | Feb 19, 2023 |
| APOB | 12 | Oct 2, 2023 |
| APOL1 | 1 | Mar 5, 2021 |
| APP | 1 | Feb 21, 2021 |
| APTX | 2 | Mar 5, 2021 |
| AQP2 | 4 | Jun 4, 2024 |
| AQP5-AS1 | 2 | Jun 4, 2024 |
| AR | 4 | Oct 2, 2023 |
| ARCN1 | 3 | Jun 4, 2024 |
| ARF1 | 1 | Feb 19, 2023 |
| ARFGEF1 | 5 | Jun 4, 2024 |
| ARFGEF1-DT | 2 | Mar 5, 2021 |
| ARFGEF2 | 4 | Mar 5, 2021 |
| ARG1 | 52 | Jun 5, 2024 |
| ARHGAP31 | 3 | Feb 19, 2023 |
| ARHGDIA | 2 | Feb 21, 2021 |
| ARHGEF10 | 4 | Mar 5, 2021 |
| ARHGEF18 | 2 | Mar 5, 2021 |
| ARHGEF2 | 1 | Feb 21, 2021 |
| ARHGEF6 | 2 | Feb 21, 2021 |
| ARHGEF9 | 4 | Oct 2, 2023 |
| ARID1A | 32 | Oct 2, 2023 |
| ARID1B | 86 | Dec 14, 2023 |
| ARID2 | 16 | Dec 14, 2023 |
| ARL13B | 1 | Mar 5, 2021 |
| ARL6 | 1 | Feb 21, 2021 |
| ARMC5 | 2 | Mar 5, 2021 |
| ARMC9 | 2 | Mar 5, 2021 |
| ARMCX5-GPRASP2 | 1 | Feb 21, 2021 |
| ARNT2 | 1 | Mar 5, 2021 |
| ARPC1B | 4 | Jun 4, 2024 |
| ARSA | 12 | Mar 5, 2021 |
| ARSB | 92 | Jun 5, 2024 |
| ARV1 | 2 | Mar 5, 2021 |
| ARX | 4 | Feb 21, 2021 |
| ASAH1 | 6 | Mar 5, 2021 |
| ASCC1 | 2 | Feb 21, 2021 |
| ASCC3 | 2 | Oct 2, 2023 |
| ASH1L | 18 | Oct 2, 2023 |
| ASIC4-AS1 | 3 | Jun 4, 2024 |
| ASL | 96 | Jun 5, 2024 |
| ASNS | 4 | Jun 4, 2024 |
| ASPA | 62 | Jun 5, 2024 |
| ASPM | 21 | Mar 5, 2021 |
| ASS1 | 106 | Jun 5, 2024 |
| ASTN2 | 4 | Mar 5, 2021 |
| ASXL1 | 11 | Feb 19, 2023 |
| ASXL2 | 5 | Mar 5, 2021 |
| ASXL3 | 11 | Mar 12, 2023 |
| ATAD3A | 10 | Feb 19, 2023 |
| ATCAY | 1 | Feb 21, 2021 |
| ATF6 | 1 | Mar 5, 2021 |
| ATIC | 1 | Feb 21, 2021 |
| ATL1 | 4 | Mar 5, 2021 |
| ATM | 1649 | Jun 5, 2024 |
| ATN1 | 2 | Oct 2, 2023 |
| ATP11A | 1 | Oct 2, 2023 |
| ATP13A2 | 14 | Feb 19, 2023 |
| ATP1A1 | 2 | Jun 4, 2024 |
| ATP1A1-AS1 | 1 | Feb 21, 2021 |
| ATP1A2 | 6 | Jun 4, 2024 |
| ATP1A3 | 13 | Jun 4, 2024 |
| ATP2A1 | 3 | Mar 5, 2021 |
| ATP2B1 | 2 | Dec 14, 2023 |
| ATP2B2 | 1 | Oct 2, 2023 |
| ATP2B3 | 6 | Feb 19, 2023 |
| ATP5F1A | 1 | Mar 5, 2021 |
| ATP5MK | 1 | Feb 21, 2021 |
| ATP6V0A2 | 3 | Feb 19, 2023 |
| ATP6V0A4 | 2 | Jun 4, 2024 |
| ATP6V0C | 1 | Dec 14, 2023 |
| ATP6V1A | 1 | Feb 21, 2021 |
| ATP6V1B1 | 1 | Feb 21, 2021 |
| ATP6V1B2 | 1 | Feb 21, 2021 |
| ATP7A | 27 | Jun 5, 2024 |
| ATP7B | 318 | Jun 5, 2024 |
| ATP8A2 | 4 | Mar 5, 2021 |
| ATP8B1 | 58 | Jun 5, 2024 |
| ATP8B1-AS1 | 20 | Jun 5, 2024 |
| ATPAF2 | 5 | Jun 4, 2024 |
| ATR | 2 | Jun 5, 2024 |
| ATRIP | 8 | Jun 4, 2024 |
| ATRIP-TREX1 | 8 | Jun 4, 2024 |
| ATRX | 18 | Feb 19, 2023 |
| ATXN2 | 1 | Jun 4, 2024 |
| ATXN7L3-AS1 | 1 | Feb 21, 2021 |
| AUH | 2 | Dec 14, 2023 |
| AUTS2 | 7 | Dec 14, 2023 |
| AVIL | 1 | Feb 19, 2023 |
| AVPR2 | 1 | Nov 14, 2016 |
| AXDND1 | 21 | Jun 5, 2024 |
| AXIN2 | 305 | Jun 5, 2024 |
| B3GALNT2 | 3 | Mar 5, 2021 |
| B3GALT2 | 1 | Mar 5, 2021 |
| B3GALT6 | 7 | Oct 2, 2023 |
| B3GAT3 | 2 | Oct 2, 2023 |
| B3GLCT | 2 | Oct 2, 2023 |
| B4GALNT1 | 5 | Dec 14, 2023 |
| B4GALT1 | 2 | Mar 5, 2021 |
| B4GALT1-AS1 | 1 | Mar 5, 2021 |
| B4GALT7 | 4 | Feb 19, 2023 |
| B9D1 | 3 | Mar 5, 2021 |
| BACH2 | 2 | Jun 4, 2024 |
| BAG3 | 3 | Mar 5, 2021 |
| BAP1 | 210 | Jun 5, 2024 |
| BARD1 | 340 | Jun 5, 2024 |
| BBOF1 | 1 | Mar 5, 2021 |
| BBS1 | 67 | Jun 5, 2024 |
| BBS10 | 99 | Jun 5, 2024 |
| BBS12 | 79 | Jun 5, 2024 |
| BBS2 | 92 | Jun 5, 2024 |
| BBS4 | 71 | Jun 5, 2024 |
| BBS5 | 3 | Jun 4, 2024 |
| BBS7 | 62 | Jun 5, 2024 |
| BBS9 | 55 | Jun 5, 2024 |
| BCAP31 | 2 | Feb 21, 2021 |
| BCKDHA | 81 | Jun 5, 2024 |
| BCKDHB | 82 | Jun 5, 2024 |
| BCKDK | 3 | Mar 5, 2021 |
| BCL11A | 5 | Jul 1, 2021 |
| BCL11B | 11 | Oct 2, 2023 |
| BCOR | 4 | Oct 2, 2023 |
| BCORL1 | 5 | Jun 4, 2024 |
| BCS1L | 69 | Jun 5, 2024 |
| BDP1 | 1 | Feb 21, 2021 |
| BEST1 | 1 | Feb 21, 2021 |
| BFSP2 | 1 | Mar 5, 2021 |
| BGN | 4 | Mar 5, 2021 |
| BICD2 | 4 | Feb 19, 2023 |
| BICRA | 4 | Oct 2, 2023 |
| BIN1 | 3 | Mar 5, 2021 |
| BIVM-ERCC5 | 16 | Dec 6, 2021 |
| BLK | 2 | Feb 19, 2023 |
| BLM | 156 | Jun 5, 2024 |
| BLNK | 2 | Mar 5, 2021 |
| BLOC1S3 | 1 | Mar 5, 2021 |
| BLOC1S6 | 1 | Mar 5, 2021 |
| BLTP1 | 10 | Mar 5, 2021 |
| BLVRA | 1 | Feb 21, 2021 |
| BMP1 | 3 | Mar 5, 2021 |
| BMP2 | 1 | Mar 5, 2021 |
| BMPR1A | 155 | Jun 5, 2024 |
| BMPR1B | 1 | Mar 5, 2021 |
| BMPR2 | 5 | Feb 19, 2023 |
| BNC1 | 1 | Feb 21, 2021 |
| BOLA3 | 4 | Feb 21, 2021 |
| BPNT2 | 2 | Feb 19, 2023 |
| BPTF | 24 | Jun 4, 2024 |
| BRAF | 11 | Mar 5, 2021 |
| BRAT1 | 13 | Jun 4, 2024 |
| BRCA1 | 699 | Jun 5, 2024 |
| BRCA2 | 1194 | Jun 5, 2024 |
| BRCC3 | 1 | Apr 1, 2019 |
| BRF1 | 4 | Feb 21, 2021 |
| BRIP1 | 487 | Jun 5, 2024 |
| BRME1 | 1 | Feb 21, 2021 |
| BRPF1 | 10 | Dec 14, 2023 |
| BRWD1 | 1 | Oct 16, 2017 |
| BRWD3 | 8 | Oct 2, 2023 |
| BSCL2 | 7 | Oct 2, 2023 |
| BSN | 2 | Dec 14, 2023 |
| BSND | 1 | Feb 21, 2021 |
| BTD | 119 | Jun 5, 2024 |
| BTK | 1 | Mar 5, 2021 |
| BUB1B | 8 | Dec 7, 2023 |
| BUB1B-PAK6 | 1 | Feb 10, 2021 |
| C10orf105 | 22 | Nov 26, 2024 |
| C10orf55 | 1 | Feb 21, 2021 |
| C11orf65 | 639 | Jun 5, 2024 |
| C12orf57 | 5 | Feb 19, 2023 |
| C12orf60 | 1 | Mar 5, 2021 |
| C17orf107 | 74 | Jun 5, 2024 |
| C19orf12 | 1 | Feb 21, 2021 |
| C1QC | 1 | Feb 21, 2021 |
| C1QTNF3-AMACR | 1 | Feb 21, 2021 |
| C1QTNF5 | 1 | Aug 17, 2015 |
| C1S | 1 | Oct 2, 2023 |
| C1orf105 | 4 | Mar 5, 2021 |
| C1orf167 | 1 | Mar 5, 2021 |
| C2 | 1 | Mar 5, 2021 |
| C2CD3 | 3 | Oct 2, 2023 |
| C3 | 8 | Feb 19, 2023 |
| C4A | 2 | Mar 5, 2021 |
| C4B | 1 | Mar 5, 2021 |
| C5 | 5 | Feb 19, 2023 |
| C5orf58 | 1 | Dec 14, 2023 |
| C6 | 2 | Dec 14, 2023 |
| C7 | 2 | Mar 5, 2021 |
| C8A | 1 | Jun 4, 2024 |
| C8B | 2 | Mar 5, 2021 |
| C9 | 1 | Mar 5, 2021 |
| CA12 | 1 | Feb 21, 2021 |
| CA2 | 3 | Feb 19, 2023 |
| CACNA1A | 44 | Jun 4, 2024 |
| CACNA1B | 4 | Oct 2, 2023 |
| CACNA1C | 7 | Jun 4, 2024 |
| CACNA1C-AS1 | 1 | Feb 21, 2021 |
| CACNA1D | 4 | Feb 19, 2023 |
| CACNA1F | 1 | Mar 5, 2021 |
| CACNA1G | 8 | Mar 5, 2021 |
| CACNA1H | 18 | Mar 5, 2021 |
| CACNA1S | 5 | Oct 2, 2023 |
| CACNA2D2 | 1 | Feb 21, 2021 |
| CACNB2 | 2 | Feb 19, 2023 |
| CACNB4 | 3 | Feb 19, 2023 |
| CACNG2 | 1 | Oct 2, 2023 |
| CAD | 17 | Feb 19, 2023 |
| CALR | 1 | Feb 21, 2021 |
| CAMK2A | 1 | Jun 4, 2024 |
| CAMK2G | 1 | Feb 19, 2023 |
| CAMTA1 | 13 | Jun 4, 2024 |
| CANT1 | 2 | Mar 5, 2021 |
| CAPN1 | 2 | Feb 19, 2023 |
| CAPN15 | 3 | Feb 19, 2023 |
| CAPN3 | 220 | Jun 5, 2024 |
| CARD11 | 8 | Jun 4, 2024 |
| CARD11-AS1 | 1 | Feb 21, 2021 |
| CARD14 | 1 | Jun 5, 2024 |
| CARMIL2 | 4 | Dec 14, 2023 |
| CARS2 | 9 | Oct 2, 2023 |
| CARTPT | 1 | Mar 5, 2021 |
| CASD1 | 4 | Jun 4, 2024 |
| CASK | 7 | Oct 2, 2023 |
| CASP10 | 4 | Oct 2, 2023 |
| CASP14 | 2 | Feb 21, 2021 |
| CASP8 | 5 | Mar 5, 2021 |
| CASQ2 | 2 | Feb 19, 2023 |
| CASR | 4 | Oct 2, 2023 |
| CAST | 2 | Jun 4, 2024 |
| CAV1 | 1 | Jun 4, 2024 |
| CBL | 14 | Jun 4, 2024 |
| CBLIF | 1 | Mar 5, 2021 |
| CBS | 112 | Jun 5, 2024 |
| CC2D1A | 16 | Jun 4, 2024 |
| CC2D2A | 16 | Feb 19, 2023 |
| CCBE1 | 3 | Feb 21, 2021 |
| CCDC115 | 1 | Mar 5, 2021 |
| CCDC141 | 1 | Feb 21, 2021 |
| CCDC174 | 4 | Oct 2, 2023 |
| CCDC22 | 5 | Oct 2, 2023 |
| CCDC30 | 1 | Feb 21, 2021 |
| CCDC39 | 3 | Oct 2, 2023 |
| CCDC40 | 3 | Mar 5, 2021 |
| CCDC50 | 1 | Mar 5, 2021 |
| CCDC65 | 3 | Mar 5, 2021 |
| CCDC78 | 1 | Mar 5, 2021 |
| CCDC8 | 3 | Mar 5, 2021 |
| CCDC88A | 1 | Mar 5, 2021 |
| CCDC88C | 9 | Feb 19, 2023 |
| CCDST | 23 | Jun 4, 2024 |
| CCM2 | 3 | Jun 4, 2024 |
| CCN6 | 3 | Feb 19, 2023 |
| CCND2 | 2 | Mar 5, 2021 |
| CCNF | 1 | Oct 2, 2023 |
| CCNH | 2 | Mar 5, 2021 |
| CCNO | 3 | Oct 2, 2023 |
| CCT5 | 2 | Mar 5, 2021 |
| CD151 | 2 | Feb 21, 2021 |
| CD164 | 1 | Oct 2, 2023 |
| CD19 | 2 | Mar 5, 2021 |
| CD2AP | 2 | Feb 21, 2021 |
| CD36 | 3 | Feb 19, 2023 |
| CD3D | 1 | Apr 18, 2024 |
| CD3E | 2 | Mar 5, 2021 |
| CD3G | 1 | Feb 21, 2021 |
| CD40 | 1 | Feb 21, 2021 |
| CD46 | 1 | Feb 21, 2021 |
| CD79A | 3 | Mar 5, 2021 |
| CD8A | 1 | Mar 5, 2021 |
| CD96 | 3 | Feb 21, 2021 |
| CDAN1 | 4 | Mar 5, 2021 |
| CDC14A | 2 | Feb 21, 2021 |
| CDC42 | 3 | Jun 4, 2024 |
| CDC42BPB | 3 | Jun 4, 2024 |
| CDC45 | 2 | Mar 5, 2021 |
| CDC73 | 43 | Jun 5, 2024 |
| CDCA7L | 1 | Oct 2, 2023 |
| CDH1 | 267 | Jun 5, 2024 |
| CDH15 | 7 | Mar 5, 2021 |
| CDH2 | 1 | Feb 19, 2023 |
| CDH23 | 248 | Nov 26, 2024 |
| CDH23-AS1 | 6 | Jun 5, 2024 |
| CDH3 | 3 | Feb 19, 2023 |
| CDK10 | 8 | Oct 2, 2023 |
| CDK13 | 17 | Jun 4, 2024 |
| CDK5RAP2 | 12 | Mar 5, 2021 |
| CDK8 | 1 | Feb 19, 2023 |
| CDKL5 | 20 | Jun 5, 2024 |
| CDKN1B | 72 | Jun 5, 2024 |
| CDKN1C | 51 | Jun 5, 2024 |
| CDKN2A | 114 | Jun 5, 2024 |
| CDSN | 1 | Feb 21, 2021 |
| CDT1 | 1 | Feb 21, 2021 |
| CEACAM16 | 2 | Mar 5, 2021 |
| CEACAM16-AS1 | 2 | Mar 5, 2021 |
| CEBPA | 79 | Jun 5, 2024 |
| CEL | 2 | Mar 5, 2021 |
| CENPE | 4 | Mar 5, 2021 |
| CENPF | 15 | Oct 2, 2023 |
| CEP104 | 2 | Mar 5, 2021 |
| CEP120 | 7 | Oct 2, 2023 |
| CEP135 | 4 | Mar 5, 2021 |
| CEP152 | 6 | Oct 1, 2024 |
| CEP164 | 3 | Feb 19, 2023 |
| CEP290 | 387 | Jun 5, 2024 |
| CEP41 | 3 | Mar 5, 2021 |
| CEP55 | 1 | Feb 21, 2021 |
| CEP57 | 11 | Feb 11, 2022 |
| CEP63 | 5 | Mar 5, 2021 |
| CEP78 | 1 | Feb 21, 2021 |
| CEP83 | 3 | Oct 2, 2023 |
| CEP85L | 2 | Feb 21, 2021 |
| CERKL | 85 | Jun 5, 2024 |
| CERS1 | 5 | Feb 19, 2023 |
| CFAP410 | 2 | Mar 5, 2021 |
| CFAP43 | 1 | Feb 21, 2021 |
| CFAP44 | 1 | Feb 21, 2021 |
| CFAP44-AS1 | 1 | Feb 21, 2021 |
| CFAP52 | 2 | Feb 19, 2023 |
| CFAP53 | 3 | Feb 19, 2023 |
| CFAP65 | 1 | Feb 21, 2021 |
| CFAP74 | 1 | Oct 2, 2023 |
| CFAP91 | 1 | Feb 19, 2023 |
| CFAP92 | 18 | Jun 5, 2024 |
| CFAP96 | 1 | Oct 2, 2023 |
| CFH | 9 | Oct 2, 2023 |
| CFHR1 | 1 | Feb 21, 2021 |
| CFHR5 | 2 | Feb 21, 2021 |
| CFI | 3 | Feb 19, 2023 |
| CFL2 | 1 | Feb 21, 2021 |
| CFTR | 644 | Jun 5, 2024 |
| CFTR-AS1 | 66 | Jun 5, 2024 |
| CHAMP1 | 3 | Mar 5, 2021 |
| CHAT | 59 | Jun 5, 2024 |
| CHD1 | 8 | Jun 4, 2024 |
| CHD2 | 10 | Dec 14, 2023 |
| CHD3 | 6 | Oct 2, 2023 |
| CHD4 | 14 | Jun 4, 2024 |
| CHD5 | 2 | Oct 2, 2023 |
| CHD7 | 38 | Jun 4, 2024 |
| CHD8 | 13 | Dec 14, 2023 |
| CHEK2 | 382 | Jun 5, 2024 |
| CHKB | 3 | Feb 19, 2023 |
| CHKB-CPT1B | 3 | Feb 19, 2023 |
| CHMP1A | 7 | Feb 19, 2023 |
| CHRNA1 | 2 | Mar 5, 2021 |
| CHRNA2 | 2 | Feb 19, 2023 |
| CHRNA4 | 8 | Feb 19, 2023 |
| CHRNA7 | 1 | Oct 16, 2017 |
| CHRNB1 | 1 | Feb 19, 2023 |
| CHRNB2 | 2 | Mar 5, 2021 |
| CHRND | 5 | Feb 19, 2023 |
| CHRNE | 132 | Jun 5, 2024 |
| CHRNG | 7 | Oct 2, 2023 |
| CHROMR | 2 | Mar 14, 2019 |
| CHST14 | 2 | Mar 5, 2021 |
| CHST6 | 2 | Feb 21, 2021 |
| CIBAR1 | 1 | Feb 19, 2023 |
| CIC | 12 | Feb 19, 2023 |
| CIITA | 6 | Mar 5, 2021 |
| CIROP | 2 | Oct 2, 2023 |
| CIT | 9 | Feb 19, 2023 |
| CITED2 | 2 | Dec 14, 2023 |
| CKAP2L | 3 | Mar 5, 2021 |
| CLCN1 | 10 | Jun 4, 2024 |
| CLCN2 | 5 | Dec 14, 2023 |
| CLCN4 | 3 | Feb 19, 2023 |
| CLCN5 | 3 | Feb 19, 2023 |
| CLCN7 | 3 | Mar 12, 2023 |
| CLCNKA | 2 | Oct 2, 2023 |
| CLDN16 | 3 | Feb 19, 2023 |
| CLEC7A | 1 | Feb 21, 2021 |
| CLIC2 | 1 | Feb 21, 2021 |
| CLN3 | 69 | Jun 5, 2024 |
| CLN5 | 49 | Jun 5, 2024 |
| CLN6 | 4 | Oct 2, 2023 |
| CLN8 | 2 | Mar 12, 2023 |
| CLP1 | 5 | Mar 5, 2021 |
| CLPB | 12 | Feb 19, 2023 |
| CLRN1 | 38 | Jun 5, 2024 |
| CLRN1-AS1 | 2 | Jun 5, 2024 |
| CLTC | 4 | Jun 4, 2024 |
| CNGA1 | 1 | Feb 19, 2023 |
| CNGA3 | 5 | Oct 2, 2023 |
| CNGB1 | 3 | Jun 4, 2024 |
| CNGB3 | 1 | Feb 10, 2021 |
| CNKSR2 | 3 | Feb 21, 2021 |
| CNOT1 | 1 | Feb 19, 2023 |
| CNOT3 | 7 | Jun 4, 2024 |
| CNPY3 | 6 | Oct 2, 2023 |
| CNPY3-GNMT | 6 | Oct 2, 2023 |
| CNTN1 | 1 | Feb 21, 2021 |
| CNTN2 | 3 | Mar 5, 2021 |
| CNTNAP1 | 3 | Mar 5, 2021 |
| CNTNAP2 | 17 | Mar 5, 2021 |
| COA7 | 1 | Feb 21, 2021 |
| COA8 | 2 | Mar 5, 2021 |
| COASY | 4 | Mar 5, 2021 |
| COCH | 1 | Feb 21, 2021 |
| COG1 | 7 | Mar 5, 2021 |
| COG2 | 2 | Feb 21, 2021 |
| COG3 | 1 | Jun 4, 2024 |
| COG4 | 2 | Feb 19, 2023 |
| COG5 | 4 | Mar 5, 2021 |
| COG6 | 7 | Feb 19, 2023 |
| COG7 | 10 | Mar 5, 2021 |
| COG8 | 3 | Mar 5, 2021 |
| COL10A1 | 1 | Feb 21, 2021 |
| COL11A1 | 15 | Jun 4, 2024 |
| COL11A2 | 4 | Feb 19, 2023 |
| COL12A1 | 11 | Jun 4, 2024 |
| COL13A1 | 3 | Mar 5, 2021 |
| COL17A1 | 1 | Feb 21, 2021 |
| COL18A1 | 3 | Mar 5, 2021 |
| COL1A1 | 26 | Jun 4, 2024 |
| COL1A2 | 13 | Oct 2, 2023 |
| COL27A1 | 4 | Mar 5, 2021 |
| COL2A1 | 9 | Jun 4, 2024 |
| COL3A1 | 15 | Jun 4, 2024 |
| COL4A1 | 20 | Jun 4, 2024 |
| COL4A2 | 6 | Oct 2, 2023 |
| COL4A2-AS1 | 2 | Feb 19, 2023 |
| COL4A3 | 7 | Jun 4, 2024 |
| COL4A4 | 12 | Feb 19, 2023 |
| COL4A5 | 11 | Oct 2, 2023 |
| COL5A1 | 10 | Oct 2, 2023 |
| COL5A2 | 3 | Feb 19, 2023 |
| COL6A1 | 10 | Jun 4, 2024 |
| COL6A2 | 10 | Mar 5, 2021 |
| COL6A3 | 14 | Jun 4, 2024 |
| COL7A1 | 8 | Jun 4, 2024 |
| COL9A1 | 2 | Mar 5, 2021 |
| COL9A3 | 1 | Nov 14, 2016 |
| COLEC11 | 1 | Feb 21, 2021 |
| COLQ | 59 | Jun 5, 2024 |
| COMP | 1 | Feb 21, 2021 |
| COPA | 4 | Oct 2, 2023 |
| COPB1 | 3 | Oct 2, 2023 |
| COQ2 | 10 | Jun 4, 2024 |
| COQ4 | 5 | Mar 5, 2021 |
| COQ5 | 1 | Oct 2, 2023 |
| COQ6 | 1 | Oct 2, 2023 |
| COQ8A | 10 | Jun 4, 2024 |
| COQ8B | 4 | Oct 2, 2023 |
| COQ9 | 2 | Mar 5, 2021 |
| CORO1A | 1 | Mar 5, 2021 |
| COX10 | 12 | Jun 4, 2024 |
| COX15 | 3 | Jun 4, 2024 |
| COX20 | 2 | Feb 19, 2023 |
| COX4I2 | 1 | Mar 5, 2021 |
| COX6A1 | 2 | Oct 2, 2023 |
| COX6B1 | 1 | Feb 21, 2021 |
| COX7B | 1 | Feb 21, 2021 |
| COX8A | 1 | Mar 5, 2021 |
| CP | 27 | Jun 5, 2024 |
| CPA6 | 4 | Mar 5, 2021 |
| CPAMD8 | 3 | Feb 19, 2023 |
| CPAP | 7 | Mar 5, 2021 |
| CPEB1-AS1 | 7 | Mar 5, 2021 |
| CPLANE1 | 19 | Mar 1, 2024 |
| CPOX | 1 | Mar 12, 2023 |
| CPS1 | 127 | Jun 5, 2024 |
| CPT1A | 50 | Jun 5, 2024 |
| CPT2 | 92 | Jun 5, 2024 |
| CR2 | 12 | Feb 19, 2023 |
| CRADD | 4 | Mar 5, 2021 |
| CRB1 | 174 | Jun 5, 2024 |
| CRB2 | 7 | Mar 5, 2021 |
| CRBN | 6 | Feb 19, 2023 |
| CREB3L1 | 1 | Mar 5, 2021 |
| CREBBP | 21 | Jun 4, 2024 |
| CRIPT | 3 | Feb 21, 2021 |
| CRPPA | 4 | Feb 21, 2021 |
| CRPPA-AS1 | 1 | Feb 21, 2021 |
| CRTAP | 1 | Feb 21, 2021 |
| CRYAB | 1 | Mar 5, 2021 |
| CRYBA1 | 1 | Mar 5, 2021 |
| CRYBB2 | 1 | Feb 19, 2023 |
| CRYGC | 1 | Mar 5, 2021 |
| CRYGD | 1 | Mar 14, 2019 |
| CSF1R | 9 | Jun 4, 2024 |
| CSF2RB | 2 | Mar 5, 2021 |
| CSF3R | 4 | Mar 5, 2021 |
| CSNK2A1 | 5 | Mar 5, 2021 |
| CSNK2B | 2 | Feb 19, 2023 |
| CSPP1 | 10 | Feb 19, 2023 |
| CSRP3 | 1 | Feb 21, 2021 |
| CTBP1 | 2 | Feb 19, 2023 |
| CTBP1-AS | 2 | Feb 19, 2023 |
| CTC1 | 8 | Dec 14, 2023 |
| CTCF | 8 | Feb 19, 2023 |
| CTDP1 | 1 | Jun 4, 2024 |
| CTH | 1 | Oct 2, 2023 |
| CTLA4 | 3 | Jun 4, 2024 |
| CTNNA1 | 89 | Jun 5, 2024 |
| CTNNA2 | 2 | Oct 2, 2023 |
| CTNNB1 | 8 | Feb 19, 2023 |
| CTNND1 | 2 | Oct 2, 2023 |
| CTNS | 78 | Jun 5, 2024 |
| CTNS-AS1 | 34 | Jun 5, 2024 |
| CTPS1 | 1 | Feb 21, 2021 |
| CTR9 | 1 | Dec 7, 2023 |
| CTRC | 4 | Dec 7, 2023 |
| CTSA | 1 | Feb 21, 2021 |
| CTSC | 1 | Feb 21, 2021 |
| CTSD | 1 | Mar 5, 2021 |
| CTSK | 39 | Jun 5, 2024 |
| CTU2 | 1 | Feb 21, 2021 |
| CTXN2-AS1 | 1 | Oct 2, 2023 |
| CUBN | 6 | Mar 5, 2021 |
| CUL3 | 4 | Feb 19, 2023 |
| CUL4B | 5 | Oct 2, 2023 |
| CUL7 | 7 | Mar 5, 2021 |
| CUX1 | 5 | Feb 19, 2023 |
| CUX2 | 1 | Feb 19, 2023 |
| CXCR4 | 1 | Feb 19, 2023 |
| CYBA | 2 | Mar 5, 2021 |
| CYCS | 1 | Mar 5, 2021 |
| CYFIP2 | 6 | Oct 2, 2023 |
| CYLD | 83 | Jun 5, 2024 |
| CYLD-AS2 | 24 | Jun 5, 2024 |
| CYP11A1 | 1 | Mar 5, 2021 |
| CYP11B1 | 61 | Jun 5, 2024 |
| CYP17A1 | 78 | Jun 5, 2024 |
| CYP17A1-AS1 | 12 | Jun 5, 2024 |
| CYP1B1 | 66 | Jun 5, 2024 |
| CYP21A2 | 3 | Oct 2, 2023 |
| CYP24A1 | 3 | Mar 5, 2021 |
| CYP26B1 | 1 | Feb 10, 2021 |
| CYP27A1 | 96 | Jun 5, 2024 |
| CYP27B1 | 3 | Oct 2, 2023 |
| CYP2R1 | 1 | Feb 19, 2023 |
| CYP2U1 | 3 | Mar 5, 2021 |
| CYP2U1-AS1 | 1 | Mar 5, 2021 |
| CYP4F22 | 4 | Mar 5, 2021 |
| CYP7B1 | 5 | Mar 5, 2021 |
| CZ1P-ASNS | 4 | Jun 4, 2024 |
| D2HGDH | 9 | Dec 14, 2023 |
| DAAM2 | 3 | Oct 2, 2023 |
| DAAM2-AS1 | 2 | Oct 2, 2023 |
| DAG1 | 3 | Oct 2, 2023 |
| DAP3 | 1 | Mar 5, 2021 |
| DARS1 | 4 | Mar 5, 2021 |
| DARS2 | 4 | Jun 4, 2024 |
| DBH | 2 | Oct 2, 2023 |
| DBNL | 3 | Oct 2, 2023 |
| DBT | 40 | Jun 5, 2024 |
| DCAF17 | 3 | Feb 19, 2023 |
| DCAF8 | 1 | Feb 19, 2023 |
| DCC | 4 | Mar 5, 2021 |
| DCDC2 | 2 | Mar 5, 2021 |
| DCHS1 | 16 | Oct 2, 2023 |
| DCLRE1C | 63 | Jun 5, 2024 |
| DCPS | 7 | Mar 5, 2021 |
| DCTN1 | 6 | Oct 2, 2023 |
| DCTN5 | 1 | Jun 5, 2024 |
| DCX | 2 | Feb 21, 2021 |
| DDB2 | 2 | Dec 6, 2021 |
| DDC | 2 | Feb 19, 2023 |
| DDHD2 | 3 | Oct 2, 2023 |
| DDOST | 2 | Mar 5, 2021 |
| DDR2 | 4 | Feb 19, 2023 |
| DDX11 | 4 | Mar 5, 2021 |
| DDX3X | 16 | Jun 4, 2024 |
| DDX41 | 124 | Jun 5, 2024 |
| DDX59 | 1 | Mar 5, 2021 |
| DDX6 | 1 | Feb 19, 2023 |
| DEAF1 | 10 | Jun 4, 2024 |
| DEF6 | 2 | Feb 19, 2023 |
| DELE1 | 2 | Feb 21, 2021 |
| DENND5A | 5 | Feb 19, 2023 |
| DEPDC5 | 15 | Dec 14, 2023 |
| DES | 7 | Feb 19, 2023 |
| DGAT1 | 4 | Jun 4, 2024 |
| DGKE | 2 | Mar 5, 2021 |
| DGUOK | 3 | Oct 2, 2023 |
| DHCR24 | 3 | Feb 21, 2021 |
| DHCR7 | 51 | Jun 4, 2024 |
| DHDDS | 14 | Jun 5, 2024 |
| DHFR | 64 | Jun 5, 2024 |
| DHODH | 1 | Feb 19, 2023 |
| DHTKD1 | 12 | Mar 12, 2023 |
| DHX30 | 3 | Mar 5, 2021 |
| DHX37 | 5 | Oct 2, 2023 |
| DIAPH1 | 4 | Mar 5, 2021 |
| DICER1 | 322 | Jun 5, 2024 |
| DIPK1A | 5 | Dec 14, 2023 |
| DIS3L2 | 37 | Jun 5, 2024 |
| DKC1 | 3 | Dec 7, 2023 |
| DLAT | 3 | Oct 2, 2023 |
| DLD | 43 | Jun 5, 2024 |
| DLEC1 | 1 | Mar 5, 2021 |
| DLG3 | 2 | Oct 2, 2023 |
| DLG4 | 1 | Jun 5, 2024 |
| DLL1 | 4 | Oct 2, 2023 |
| DLL3 | 4 | Oct 2, 2023 |
| DMD | 56 | Jun 5, 2024 |
| DMGDH | 1 | Feb 19, 2023 |
| DMXL2 | 5 | Feb 19, 2023 |
| DNA2 | 3 | Mar 5, 2021 |
| DNAAF1 | 3 | Feb 21, 2021 |
| DNAAF11 | 1 | Feb 21, 2021 |
| DNAAF19 | 2 | Mar 5, 2021 |
| DNAAF2 | 2 | Feb 19, 2023 |
| DNAAF5 | 6 | Dec 14, 2023 |
| DNAH1 | 15 | Dec 14, 2023 |
| DNAH11 | 20 | Oct 2, 2023 |
| DNAH14 | 2 | Jun 4, 2024 |
| DNAH17 | 1 | Feb 19, 2023 |
| DNAH2 | 1 | Feb 19, 2023 |
| DNAH5 | 14 | Mar 5, 2021 |
| DNAH9 | 8 | Oct 2, 2023 |
| DNAI1 | 1 | Mar 5, 2021 |
| DNAJB2 | 1 | Aug 17, 2015 |
| DNAJB6 | 1 | Feb 21, 2021 |
| DNAJC12 | 1 | Feb 19, 2023 |
| DNAJC21 | 3 | Mar 5, 2021 |
| DNAJC3 | 1 | Feb 21, 2021 |
| DNAJC6 | 1 | Mar 5, 2021 |
| DNAJC9 | 1 | Jun 4, 2024 |
| DNAJC9-AS1 | 1 | Feb 19, 2023 |
| DNHD1 | 1 | Feb 19, 2023 |
| DNM1 | 4 | Oct 2, 2023 |
| DNM1L | 8 | Oct 2, 2023 |
| DNM2 | 6 | Mar 5, 2021 |
| DNMT1 | 2 | Mar 5, 2021 |
| DNMT3A | 1 | Feb 21, 2021 |
| DNMT3B | 2 | Mar 5, 2021 |
| DOCK2 | 11 | Mar 5, 2021 |
| DOCK3 | 4 | Feb 19, 2023 |
| DOCK6 | 8 | Feb 19, 2023 |
| DOCK6-AS1 | 1 | Feb 21, 2021 |
| DOCK7 | 8 | Oct 2, 2023 |
| DOCK8 | 22 | Mar 5, 2021 |
| DOCK8-AS1 | 2 | Feb 21, 2021 |
| DOK7 | 85 | Jun 5, 2024 |
| DOLK | 1 | Mar 5, 2021 |
| DONSON | 4 | Jun 4, 2024 |
| DPAGT1 | 2 | Mar 5, 2021 |
| DPF2 | 2 | Feb 19, 2023 |
| DPH1 | 9 | Jun 4, 2024 |
| DPM1 | 2 | Feb 21, 2021 |
| DPM2 | 1 | Feb 21, 2021 |
| DPP6 | 2 | Mar 5, 2021 |
| DPYD | 109 | Jun 5, 2024 |
| DPYD-AS1 | 22 | Jun 5, 2024 |
| DPYS | 2 | Feb 21, 2021 |
| DPYSL5 | 2 | Oct 2, 2023 |
| DRC1 | 1 | Mar 5, 2021 |
| DSC2 | 3 | Oct 2, 2023 |
| DSC3 | 1 | Feb 19, 2023 |
| DSE | 7 | Feb 21, 2021 |
| DSG2 | 3 | Feb 19, 2023 |
| DSG2-AS1 | 2 | Feb 19, 2023 |
| DSP | 9 | Mar 5, 2021 |
| DSPP | 2 | Mar 5, 2021 |
| DST | 15 | Jun 4, 2024 |
| DSTYK | 3 | Feb 19, 2023 |
| DTNA | 4 | Dec 14, 2023 |
| DTNBP1 | 1 | Mar 5, 2021 |
| DUOX2 | 3 | Jun 4, 2024 |
| DUSP29 | 3 | Mar 5, 2021 |
| DUSP6 | 2 | Mar 5, 2021 |
| DVL1 | 1 | Feb 21, 2021 |
| DVL2 | 2 | Jun 5, 2024 |
| DVL3 | 2 | Feb 19, 2023 |
| DYM | 1 | Mar 5, 2021 |
| DYNC1H1 | 17 | Oct 2, 2023 |
| DYNC1I2 | 1 | Feb 21, 2021 |
| DYNC2H1 | 17 | Dec 14, 2023 |
| DYNC2I2 | 1 | Feb 21, 2021 |
| DYNC2LI1 | 1 | Feb 21, 2021 |
| DYRK1A | 9 | Mar 5, 2021 |
| DYRK1B | 1 | Feb 21, 2021 |
| DYSF | 259 | Jun 5, 2024 |
| DZIP1L | 1 | Feb 21, 2021 |
| EARS2 | 11 | Dec 14, 2023 |
| EBF3 | 9 | Feb 19, 2023 |
| ECEL1 | 2 | Feb 21, 2021 |
| ECHS1 | 10 | Jun 4, 2024 |
| ECM1 | 1 | Feb 21, 2021 |
| EDA | 1 | Feb 21, 2021 |
| EDAR | 2 | Feb 19, 2023 |
| EDARADD | 1 | Feb 21, 2021 |
| EDEM3 | 2 | Oct 2, 2023 |
| EEF1A2 | 4 | Mar 5, 2021 |
| EEF2KMT | 1 | Mar 5, 2021 |
| EFCAB13-DT | 2 | Jun 4, 2024 |
| EFEMP2 | 1 | Feb 21, 2021 |
| EFHC1 | 4 | Feb 19, 2023 |
| EFL1 | 3 | Mar 5, 2021 |
| EFNB1 | 1 | Jun 4, 2024 |
| EFTUD2 | 8 | Dec 14, 2023 |
| EGFR | 8 | Jun 5, 2024 |
| EGFR-AS1 | 1 | Jun 5, 2024 |
| EGR2 | 2 | Jun 4, 2024 |
| EHMT1 | 12 | Oct 2, 2023 |
| EIF2AK1 | 2 | Jun 4, 2024 |
| EIF2AK2 | 4 | Oct 2, 2023 |
| EIF2AK3 | 30 | Jun 5, 2024 |
| EIF2B2 | 3 | Oct 2, 2023 |
| EIF2B3 | 2 | Mar 5, 2021 |
| EIF2B4 | 4 | Oct 2, 2023 |
| EIF2B5 | 7 | Mar 12, 2023 |
| EIF2S3 | 1 | Mar 5, 2021 |
| EIF3F | 2 | Mar 12, 2023 |
| EIF3G | 1 | Dec 14, 2023 |
| EIF4G1 | 1 | Feb 21, 2021 |
| ELAC2 | 5 | Feb 19, 2023 |
| ELANE | 3 | Mar 5, 2021 |
| ELF4 | 1 | Feb 19, 2023 |
| ELMO2 | 1 | Feb 21, 2021 |
| ELN | 4 | Jun 4, 2024 |
| ELN-AS1 | 1 | Jun 4, 2024 |
| ELOVL4 | 3 | Feb 21, 2021 |
| ELP1 | 4 | Feb 11, 2022 |
| ELP2 | 10 | Mar 5, 2021 |
| ELP4 | 1 | Mar 5, 2021 |
| EMC1 | 13 | Oct 2, 2023 |
| EMC1-AS1 | 10 | Oct 2, 2023 |
| EMD | 3 | Jun 5, 2024 |
| EME2 | 1 | Feb 21, 2021 |
| EML1 | 2 | Mar 5, 2021 |
| ENAM | 1 | Mar 5, 2021 |
| ENG | 3 | Dec 7, 2023 |
| ENPP1 | 4 | Mar 5, 2021 |
| ENTPD1 | 1 | Feb 21, 2021 |
| ENTPD1-AS1 | 1 | Feb 21, 2021 |
| ENTPD5 | 1 | Oct 2, 2023 |
| ENTREP2 | 1 | Mar 5, 2021 |
| EP300 | 12 | Mar 5, 2021 |
| EPB41L1 | 3 | Jun 4, 2024 |
| EPG5 | 13 | Mar 5, 2021 |
| EPHB1 | 2 | Mar 5, 2021 |
| EPHB4 | 1 | Oct 2, 2023 |
| EPHX1 | 1 | Oct 16, 2017 |
| EPHX2 | 1 | Feb 21, 2021 |
| EPM2A | 1 | Feb 21, 2021 |
| EPRS1 | 8 | Feb 19, 2023 |
| EPS8 | 1 | Mar 5, 2021 |
| EPS8L2 | 2 | Feb 21, 2021 |
| ERAL1 | 1 | Mar 5, 2021 |
| ERBB4 | 1 | Feb 21, 2021 |
| ERCC1 | 1 | Feb 19, 2023 |
| ERCC2 | 148 | Jun 5, 2024 |
| ERCC3 | 7 | Dec 7, 2023 |
| ERCC4 | 25 | Dec 7, 2023 |
| ERCC5 | 16 | Dec 6, 2021 |
| ERCC6 | 10 | Mar 5, 2021 |
| ERCC6L2 | 3 | Mar 5, 2021 |
| ERCC8 | 2 | Jun 4, 2024 |
| ERF | 4 | Jun 4, 2024 |
| ERLIN2 | 1 | Feb 19, 2023 |
| ERMARD | 1 | Feb 21, 2021 |
| ERMP1 | 1 | Feb 21, 2021 |
| ESCO2 | 2 | Feb 21, 2021 |
| ESPN | 2 | Oct 2, 2023 |
| ESR1 | 1 | Mar 5, 2021 |
| ESRRB | 3 | Feb 21, 2021 |
| ETFA | 41 | Jun 5, 2024 |
| ETFB | 23 | Jun 5, 2024 |
| ETFDH | 136 | Jun 5, 2024 |
| ETHE1 | 36 | Jun 5, 2024 |
| ETV6 | 3 | Mar 5, 2021 |
| EVC | 5 | Mar 5, 2021 |
| EVC2 | 8 | Mar 5, 2021 |
| EVI2A | 1 | Dec 7, 2023 |
| EXOSC2 | 2 | Feb 19, 2023 |
| EXOSC3 | 2 | Mar 5, 2021 |
| EXOSC5 | 2 | Feb 19, 2023 |
| EXOSC8 | 3 | Jun 4, 2024 |
| EXPH5 | 1 | Feb 21, 2021 |
| EXT1 | 97 | Jun 5, 2024 |
| EXT2 | 103 | Jun 5, 2024 |
| EXTL3 | 1 | Mar 5, 2021 |
| EYA1 | 1 | Feb 19, 2023 |
| EYS | 379 | Jun 7, 2024 |
| EZH2 | 1 | Feb 10, 2021 |
| F11 | 1 | Mar 5, 2021 |
| F12 | 2 | Dec 14, 2023 |
| F13B | 1 | Mar 5, 2021 |
| F2 | 3 | Oct 2, 2023 |
| F5 | 4 | Oct 2, 2023 |
| F7 | 3 | Oct 2, 2023 |
| F8 | 4 | Feb 19, 2023 |
| FA2H | 3 | Mar 5, 2021 |
| FAH | 89 | Jun 5, 2024 |
| FAM111A | 2 | Mar 5, 2021 |
| FAM111B | 2 | Mar 5, 2021 |
| FAM149B1 | 2 | Jun 4, 2024 |
| FAM161A | 68 | Jun 5, 2024 |
| FAM20A | 3 | Jun 5, 2024 |
| FAN1 | 1 | Mar 5, 2021 |
| FANCA | 325 | Jun 5, 2024 |
| FANCB | 5 | Jun 5, 2024 |
| FANCC | 102 | Jun 5, 2024 |
| FANCD2 | 130 | Jun 5, 2024 |
| FANCD2OS | 38 | Jun 5, 2024 |
| FANCE | 56 | Jun 5, 2024 |
| FANCF | 37 | Jun 5, 2024 |
| FANCG | 95 | Jun 5, 2024 |
| FANCI | 137 | Jun 5, 2024 |
| FANCL | 55 | Jun 5, 2024 |
| FANCM | 33 | Dec 7, 2023 |
| FAR1 | 1 | Jun 4, 2024 |
| FARS2 | 12 | Oct 2, 2023 |
| FAS | 1 | Feb 21, 2021 |
| FASTKD2 | 4 | Jun 4, 2024 |
| FAT2 | 2 | Jun 4, 2024 |
| FAT4 | 17 | Feb 19, 2023 |
| FBLN1 | 1 | Feb 21, 2021 |
| FBLN5 | 3 | Mar 5, 2021 |
| FBN1 | 24 | Jun 4, 2024 |
| FBN2 | 6 | Mar 5, 2021 |
| FBP1 | 1 | Feb 19, 2023 |
| FBXL3 | 27 | Jun 5, 2024 |
| FBXL4 | 14 | Oct 2, 2023 |
| FBXO11 | 9 | Jun 4, 2024 |
| FBXO31 | 4 | Mar 5, 2021 |
| FBXO38 | 1 | Feb 21, 2021 |
| FBXW7 | 3 | Jun 4, 2024 |
| FCGR3A | 2 | Mar 5, 2021 |
| FCN3 | 1 | Feb 21, 2021 |
| FCSK | 5 | Feb 19, 2023 |
| FDFT1 | 2 | Feb 21, 2021 |
| FDXR | 4 | Jun 4, 2024 |
| FECH | 2 | Oct 2, 2023 |
| FERMT3 | 2 | Feb 21, 2021 |
| FGD1 | 3 | Feb 19, 2023 |
| FGF12 | 3 | Jun 4, 2024 |
| FGF13 | 1 | Feb 19, 2023 |
| FGF14 | 1 | Jun 4, 2024 |
| FGF8 | 1 | Mar 5, 2021 |
| FGFR1 | 9 | Oct 2, 2023 |
| FGFR2 | 4 | Jun 4, 2024 |
| FGFR3 | 14 | Jun 4, 2024 |
| FGG | 1 | Oct 2, 2023 |
| FH | 129 | Jun 5, 2024 |
| FHL1 | 3 | Feb 19, 2023 |
| FHOD3 | 2 | Jun 4, 2024 |
| FIBP | 2 | Dec 14, 2023 |
| FIG4 | 9 | Jun 4, 2024 |
| FITM2 | 2 | Feb 19, 2023 |
| FKBP10 | 4 | Feb 21, 2021 |
| FKBP14 | 3 | Jun 4, 2024 |
| FKBP14-AS1 | 3 | Jun 4, 2024 |
| FKRP | 83 | Jun 5, 2024 |
| FKTN | 70 | Jun 5, 2024 |
| FLCN | 131 | Jun 5, 2024 |
| FLG | 23 | Jun 4, 2024 |
| FLNA | 16 | Jun 4, 2024 |
| FLNB | 6 | Feb 19, 2023 |
| FLNB-AS1 | 1 | Feb 19, 2023 |
| FLNC | 25 | Jun 4, 2024 |
| FLNC-AS1 | 12 | Oct 2, 2023 |
| FLRT3 | 1 | Feb 21, 2021 |
| FLT4 | 2 | Feb 19, 2023 |
| FLVCR1 | 2 | Mar 5, 2021 |
| FLVCR2 | 1 | Mar 5, 2021 |
| FMN2 | 14 | Feb 19, 2023 |
| FMO3 | 1 | Feb 19, 2023 |
| FMR1 | 2 | Feb 21, 2021 |
| FN1 | 1 | Mar 5, 2021 |
| FOLR1 | 1 | Feb 21, 2021 |
| FOXC1 | 1 | Jun 4, 2024 |
| FOXC2 | 3 | Mar 5, 2021 |
| FOXE1 | 3 | Mar 5, 2021 |
| FOXF1 | 4 | Jun 4, 2024 |
| FOXG1 | 6 | Oct 2, 2023 |
| FOXN1 | 7 | Dec 14, 2023 |
| FOXP1 | 7 | Mar 12, 2023 |
| FOXP2 | 3 | Mar 5, 2021 |
| FOXP3 | 6 | Jun 5, 2024 |
| FOXRED1 | 6 | Feb 19, 2023 |
| FRAS1 | 8 | Jun 4, 2024 |
| FREM1 | 7 | Mar 5, 2021 |
| FREM2 | 1 | Mar 5, 2021 |
| FRMD5 | 4 | Aug 22, 2022 |
| FRMPD4 | 8 | Feb 19, 2023 |
| FRRS1L | 9 | Jun 4, 2024 |
| FTCD | 2 | Mar 12, 2023 |
| FTO | 1 | Feb 21, 2021 |
| FUS | 1 | Jun 4, 2024 |
| FUT8 | 2 | Feb 19, 2023 |
| FXN | 1 | Mar 5, 2021 |
| FXR1 | 1 | Oct 2, 2023 |
| FYB1 | 1 | Mar 5, 2021 |
| FYCO1 | 1 | Feb 21, 2021 |
| FZD4 | 1 | Mar 5, 2021 |
| FZD6 | 1 | Feb 21, 2021 |
| FZR1 | 1 | Oct 2, 2023 |
| G6PC1 | 20 | Jun 4, 2024 |
| G6PC3 | 3 | Dec 14, 2023 |
| G6PD | 43 | Jun 5, 2024 |
| GAA | 285 | Nov 4, 2024 |
| GABRA1 | 1 | Jun 4, 2024 |
| GABRA2 | 1 | Oct 2, 2023 |
| GABRB1 | 1 | Mar 5, 2021 |
| GABRB2 | 2 | Feb 21, 2021 |
| GABRB3 | 6 | Oct 2, 2023 |
| GABRD | 2 | Mar 5, 2021 |
| GABRG2 | 4 | Oct 2, 2023 |
| GAD1 | 1 | Feb 21, 2021 |
| GALC | 17 | Jun 4, 2024 |
| GALE | 3 | Jun 4, 2024 |
| GALK1 | 40 | Jun 5, 2024 |
| GALNS | 3 | Mar 5, 2021 |
| GALNT12 | 175 | Jun 5, 2024 |
| GALNT2 | 1 | Feb 19, 2023 |
| GALNT3 | 2 | Feb 21, 2021 |
| GALT | 110 | Jun 5, 2024 |
| GAMT | 51 | Jun 5, 2024 |
| GAN | 4 | Feb 21, 2021 |
| GANAB | 2 | Oct 2, 2023 |
| GAPVD1 | 1 | Oct 2, 2023 |
| GAREM2 | 47 | Jun 5, 2024 |
| GARS1 | 4 | Mar 12, 2023 |
| GAS8 | 1 | Mar 5, 2021 |
| GATA1 | 1 | Feb 21, 2021 |
| GATA2 | 80 | Jun 5, 2024 |
| GATA3 | 2 | Oct 2, 2023 |
| GATA4 | 9 | Dec 14, 2023 |
| GATA5 | 1 | Feb 21, 2021 |
| GATA6 | 2 | Feb 19, 2023 |
| GATAD1 | 58 | Jun 5, 2024 |
| GATAD2B | 7 | Jun 4, 2024 |
| GATM | 2 | Oct 2, 2023 |
| GBA1 | 38 | Dec 14, 2023 |
| GBA2 | 6 | Mar 5, 2021 |
| GBE1 | 101 | Jun 5, 2024 |
| GBF1 | 2 | Jun 4, 2024 |
| GCDH | 135 | Jun 5, 2024 |
| GCH1 | 2 | Feb 19, 2023 |
| GCK | 18 | Feb 19, 2023 |
| GDAP1 | 3 | Mar 5, 2021 |
| GDF1 | 5 | Feb 19, 2023 |
| GDF2 | 1 | Mar 5, 2021 |
| GDF5 | 2 | Jun 4, 2024 |
| GDF5-AS1 | 1 | Feb 21, 2021 |
| GDF6 | 4 | Mar 12, 2023 |
| GDI1 | 1 | Jun 4, 2024 |
| GEMIN4 | 4 | Mar 5, 2021 |
| GEMIN5 | 3 | Oct 2, 2023 |
| GEN1 | 2 | Jun 5, 2024 |
| GFAP | 4 | Mar 5, 2021 |
| GFER | 2 | Oct 16, 2017 |
| GFI1 | 2 | Feb 21, 2021 |
| GFI1B | 1 | Feb 19, 2023 |
| GFM1 | 101 | Jun 5, 2024 |
| GFM2 | 3 | Feb 19, 2023 |
| GFPT1 | 2 | Mar 5, 2021 |
| GGA3 | 1 | Feb 21, 2021 |
| GGCX | 1 | Mar 5, 2021 |
| GGPS1 | 2 | Jun 4, 2024 |
| GGT1 | 1 | Feb 21, 2021 |
| GH-LCR | 11 | Dec 14, 2023 |
| GH1 | 4 | Mar 5, 2021 |
| GHRHR | 3 | Mar 5, 2021 |
| GHSR | 1 | Mar 5, 2021 |
| GIGYF2 | 2 | Feb 21, 2021 |
| GINS1 | 1 | Mar 5, 2021 |
| GIPC3 | 1 | Feb 21, 2021 |
| GJA1 | 3 | Mar 5, 2021 |
| GJA8 | 1 | Feb 21, 2021 |
| GJB1 | 3 | Feb 21, 2021 |
| GJB2 | 32 | Jun 4, 2024 |
| GJB3 | 1 | Mar 5, 2021 |
| GJC2 | 2 | Mar 5, 2021 |
| GJD2-DT | 8 | Feb 19, 2023 |
| GK | 3 | Jun 4, 2024 |
| GK-AS1 | 1 | Feb 19, 2023 |
| GLA | 2 | Feb 21, 2021 |
| GLB1 | 9 | Mar 5, 2021 |
| GLDC | 12 | Oct 2, 2023 |
| GLDN | 1 | Feb 21, 2021 |
| GLE1 | 2 | Jun 4, 2024 |
| GLI1 | 1 | Mar 5, 2021 |
| GLI2 | 8 | Oct 2, 2023 |
| GLI3 | 1 | Nov 14, 2016 |
| GLIS2 | 2 | Mar 5, 2021 |
| GLIS3 | 8 | Feb 19, 2023 |
| GLIS3-AS1 | 1 | Feb 21, 2021 |
| GLMN | 1 | Feb 19, 2023 |
| GLRX5 | 2 | Feb 21, 2021 |
| GLUD1 | 2 | Feb 21, 2021 |
| GLYCTK | 4 | Mar 5, 2021 |
| GM2A | 2 | Feb 21, 2021 |
| GML | 16 | Jun 5, 2024 |
| GMNN | 3 | Jun 23, 2015 |
| GMPPB | 4 | Feb 21, 2021 |
| GNAI1 | 2 | Oct 2, 2023 |
| GNAO1 | 4 | Feb 19, 2023 |
| GNAS | 7 | Dec 14, 2023 |
| GNB1 | 5 | Feb 19, 2023 |
| GNB4 | 1 | Mar 5, 2021 |
| GNB5 | 2 | Mar 5, 2021 |
| GNE | 78 | Jun 5, 2024 |
| GNPAT | 31 | Jun 5, 2024 |
| GNPTAB | 10 | Mar 5, 2021 |
| GNRHR | 1 | Mar 5, 2021 |
| GNS | 2 | Feb 21, 2021 |
| GORAB | 1 | Mar 5, 2021 |
| GOSR2 | 1 | Feb 19, 2023 |
| GOT2 | 2 | Feb 19, 2023 |
| GP1BA | 1 | Mar 5, 2021 |
| GP1BB | 1 | Mar 5, 2021 |
| GP6 | 1 | Feb 19, 2023 |
| GPAA1 | 5 | Mar 5, 2021 |
| GPC3 | 5 | Dec 6, 2021 |
| GPC4 | 1 | Feb 21, 2021 |
| GPD1 | 4 | Feb 19, 2023 |
| GPHN | 76 | Jun 5, 2024 |
| GPI | 3 | Mar 5, 2021 |
| GPIHBP1 | 1 | Mar 12, 2023 |
| GPLD1 | 2 | Feb 21, 2021 |
| GPR17 | 1 | Feb 21, 2021 |
| GPR19 | 1 | Jun 5, 2024 |
| GPRASP2 | 1 | Feb 21, 2021 |
| GPT2 | 3 | Mar 5, 2021 |
| GPX4 | 1 | Feb 21, 2021 |
| GREB1L | 5 | Jun 4, 2024 |
| GRHPR | 48 | Jun 5, 2024 |
| GRIA1 | 1 | Jun 4, 2024 |
| GRIA2 | 1 | Feb 19, 2023 |
| GRIA3 | 6 | Dec 14, 2023 |
| GRIA4 | 3 | Feb 19, 2023 |
| GRID2 | 3 | Feb 19, 2023 |
| GRIK2 | 12 | Jun 4, 2024 |
| GRIN1 | 12 | Oct 2, 2023 |
| GRIN2A | 16 | Jun 4, 2024 |
| GRIN2B | 18 | Jun 4, 2024 |
| GRIN2D | 7 | Mar 5, 2021 |
| GRIP1 | 1 | Mar 12, 2023 |
| GRM1 | 3 | Mar 5, 2021 |
| GRN | 2 | Feb 21, 2021 |
| GRXCR1 | 1 | Feb 21, 2021 |
| GSDME | 1 | Feb 21, 2021 |
| GSEC | 2 | Mar 5, 2021 |
| GSN | 1 | Jun 4, 2024 |
| GTPBP3 | 2 | Mar 5, 2021 |
| GUCA1A | 1 | Feb 21, 2021 |
| GUCA1ANB-GUCA1A | 1 | Feb 21, 2021 |
| GUCY1A1 | 2 | Mar 5, 2021 |
| GUCY2C | 1 | Mar 5, 2021 |
| GUCY2D | 1 | Feb 21, 2021 |
| GUF1 | 2 | Feb 21, 2021 |
| GUSB | 2 | Feb 21, 2021 |
| GYG1 | 2 | Feb 19, 2023 |
| GYS1 | 5 | Oct 2, 2023 |
| GYS2 | 2 | Feb 19, 2023 |
| GZF1 | 4 | Mar 5, 2021 |
| H3-3A | 6 | Jul 17, 2021 |
| H3-3B | 7 | Feb 19, 2023 |
| H6PD | 1 | Feb 21, 2021 |
| HACE1 | 1 | Feb 21, 2021 |
| HADH | 13 | Jun 5, 2024 |
| HADHA | 75 | Jun 5, 2024 |
| HADHB | 51 | Jun 5, 2024 |
| HARS2 | 2 | Jun 4, 2024 |
| HAX1 | 3 | Feb 21, 2021 |
| HBA-LCR | 2 | Oct 2, 2023 |
| HBA1 | 4 | Sep 21, 2023 |
| HBA2 | 4 | Sep 21, 2023 |
| HBB | 49 | Mar 12, 2023 |
| HCFC1 | 7 | Feb 19, 2023 |
| HCN1 | 5 | Oct 2, 2023 |
| HCN4 | 1 | Feb 19, 2023 |
| HDAC6 | 1 | Mar 5, 2021 |
| HDAC8 | 12 | Jun 4, 2024 |
| HDC | 1 | Mar 5, 2021 |
| HECW2 | 11 | Oct 2, 2023 |
| HELLS | 2 | Mar 5, 2021 |
| HEPACAM | 3 | Mar 5, 2021 |
| HERC1 | 17 | Oct 2, 2023 |
| HERC2 | 41 | Jun 4, 2024 |
| HESX1 | 1 | Feb 21, 2021 |
| HEXA | 10 | Jun 4, 2024 |
| HEXB | 10 | Oct 2, 2023 |
| HFE | 3 | Jun 4, 2024 |
| HFE-AS1 | 2 | Dec 14, 2023 |
| HGF | 1 | Feb 19, 2023 |
| HGSNAT | 2 | Feb 21, 2021 |
| HIBCH | 5 | Jun 4, 2024 |
| HIKESHI | 1 | Feb 21, 2021 |
| HIVEP2 | 10 | Mar 5, 2021 |
| HK1 | 7 | Feb 19, 2023 |
| HLCS | 69 | Jun 5, 2024 |
| HMBS | 4 | Mar 12, 2023 |
| HMGCL | 32 | Jun 5, 2024 |
| HMGCS2 | 2 | Feb 19, 2023 |
| HNF1A | 14 | Jun 4, 2024 |
| HNF1B | 2 | Jun 4, 2024 |
| HNF4A | 2 | Dec 14, 2023 |
| HNMT | 1 | Mar 5, 2021 |
| HNRNPC | 1 | Jun 4, 2024 |
| HNRNPH2 | 2 | Jun 4, 2024 |
| HNRNPK | 4 | Jun 4, 2024 |
| HNRNPK-AS1 | 3 | Oct 2, 2023 |
| HNRNPR | 1 | Oct 2, 2023 |
| HNRNPU | 13 | Oct 2, 2023 |
| HNRNPUL2-BSCL2 | 7 | Oct 2, 2023 |
| HOMER2 | 1 | Mar 5, 2021 |
| HOXA2 | 1 | Mar 5, 2021 |
| HOXB13 | 1 | Jun 5, 2024 |
| HOXD13 | 4 | Dec 14, 2023 |
| HPDL | 1 | Dec 14, 2023 |
| HPS1 | 75 | Jun 5, 2024 |
| HPS3 | 105 | Jun 5, 2024 |
| HPS4 | 40 | Jun 5, 2024 |
| HPS6 | 1 | Feb 21, 2021 |
| HPSE2 | 1 | Feb 21, 2021 |
| HRAS | 15 | Jun 4, 2024 |
| HS6ST2 | 1 | Feb 21, 2021 |
| HSALR1 | 4 | Feb 19, 2023 |
| HSD11B2 | 1 | Feb 21, 2021 |
| HSD17B10 | 2 | Feb 21, 2021 |
| HSD17B4 | 77 | Jun 5, 2024 |
| HSD3B2 | 1 | Feb 21, 2021 |
| HSD3B7 | 4 | Oct 2, 2023 |
| HSPB1 | 1 | Feb 21, 2021 |
| HSPB8 | 1 | Feb 21, 2021 |
| HSPD1 | 3 | Feb 21, 2021 |
| HSPG2 | 19 | Oct 2, 2023 |
| HTRA1 | 1 | Feb 21, 2021 |
| HTRA2 | 1 | Feb 21, 2021 |
| HTT | 8 | Oct 2, 2023 |
| HUWE1 | 7 | Oct 2, 2023 |
| HYCC1 | 2 | Feb 21, 2021 |
| HYDIN | 7 | Feb 19, 2023 |
| IARS1 | 12 | Mar 5, 2021 |
| IARS2 | 3 | Mar 5, 2021 |
| IBA57 | 4 | Feb 19, 2023 |
| ICOS | 1 | Feb 21, 2021 |
| IDH2 | 3 | Feb 21, 2021 |
| IDS | 3 | Feb 19, 2023 |
| IDUA | 11 | Oct 2, 2023 |
| IFIH1 | 8 | Jun 4, 2024 |
| IFNAR2 | 1 | Feb 21, 2021 |
| IFNAR2-IL10RB | 4 | Mar 5, 2021 |
| IFT122 | 1 | Feb 21, 2021 |
| IFT140 | 2 | Mar 5, 2021 |
| IFT172 | 3 | Dec 14, 2023 |
| IFT74 | 2 | Feb 19, 2023 |
| IFT81 | 1 | Feb 21, 2021 |
| IGBP1 | 2 | Feb 21, 2021 |
| IGF1 | 1 | Mar 5, 2021 |
| IGF1R | 11 | Oct 2, 2023 |
| IGF2 | 1 | Feb 19, 2023 |
| IGFALS | 3 | Mar 5, 2021 |
| IGHMBP2 | 11 | Mar 12, 2023 |
| IGLL1 | 1 | Mar 5, 2021 |
| IGSF1 | 1 | Mar 5, 2021 |
| IHH | 1 | Feb 21, 2021 |
| IKBKB | 3 | Mar 5, 2021 |
| IKBKG | 1 | Jun 5, 2024 |
| IKZF1 | 1 | Mar 5, 2021 |
| IKZF5 | 1 | Dec 14, 2023 |
| IL10RA | 1 | Feb 21, 2021 |
| IL10RB | 3 | Mar 5, 2021 |
| IL12RB1 | 3 | Mar 5, 2021 |
| IL17RA | 4 | Mar 5, 2021 |
| IL17RD | 1 | Feb 21, 2021 |
| IL1RN | 1 | Feb 21, 2021 |
| IL21 | 1 | Mar 5, 2021 |
| IL21-AS1 | 1 | Mar 5, 2021 |
| IL21R | 3 | Mar 5, 2021 |
| IL21R-AS1 | 2 | Mar 5, 2021 |
| IL2RA | 3 | Mar 5, 2021 |
| IL2RB | 1 | Feb 21, 2021 |
| IL2RG | 1 | Feb 21, 2021 |
| IL36RN | 1 | Feb 21, 2021 |
| IL4I1 | 1 | Feb 21, 2021 |
| IL4R | 1 | Feb 19, 2023 |
| IL6ST | 2 | Jun 4, 2024 |
| IL7R | 3 | Jun 4, 2024 |
| ILDR1 | 1 | Mar 5, 2021 |
| IMPA1 | 3 | Mar 5, 2021 |
| IMPG1 | 1 | Feb 21, 2021 |
| IMPG2 | 1 | Mar 5, 2021 |
| INCA1 | 2 | Feb 21, 2021 |
| INF2 | 1 | Feb 19, 2023 |
| INPP5E | 5 | Feb 19, 2023 |
| INPP5K | 2 | Mar 5, 2021 |
| INPPL1 | 3 | Mar 5, 2021 |
| INS-IGF2 | 1 | Feb 19, 2023 |
| INSL6 | 3 | Feb 19, 2023 |
| INSR | 3 | Mar 5, 2021 |
| INSYN2B | 1 | Mar 5, 2021 |
| INTS1 | 4 | Feb 19, 2023 |
| INTS8 | 1 | Feb 19, 2023 |
| INVS | 3 | Mar 5, 2021 |
| IQCB1 | 49 | Jun 5, 2024 |
| IQCE | 1 | Feb 21, 2021 |
| IQCG | 1 | Feb 10, 2021 |
| IQSEC1 | 3 | Feb 19, 2023 |
| IQSEC2 | 6 | Jun 4, 2024 |
| IRAK1BP1 | 6 | Feb 19, 2023 |
| IRAK4 | 1 | Mar 5, 2021 |
| IRF2BP2 | 3 | Mar 5, 2021 |
| IRF2BPL | 8 | Jun 4, 2024 |
| IRF6 | 1 | Oct 16, 2017 |
| IRF7 | 1 | Feb 21, 2021 |
| IRS4 | 1 | Feb 21, 2021 |
| IRX5 | 4 | Mar 5, 2021 |
| ISCA2 | 2 | Mar 5, 2021 |
| ISG15 | 4 | Feb 19, 2023 |
| ITCH | 1 | Feb 21, 2021 |
| ITGA2B | 6 | Feb 19, 2023 |
| ITGA3 | 3 | Feb 21, 2021 |
| ITGA4 | 3 | Jun 5, 2024 |
| ITGA6 | 3 | Feb 21, 2021 |
| ITGA7 | 7 | Mar 5, 2021 |
| ITGA8 | 3 | Mar 5, 2021 |
| ITGB2 | 1 | Mar 5, 2021 |
| ITGB3 | 4 | Jun 4, 2024 |
| ITGB4 | 6 | Oct 2, 2023 |
| ITK | 2 | Feb 21, 2021 |
| ITPA | 3 | Mar 5, 2021 |
| ITPR1 | 19 | Oct 2, 2023 |
| IVD | 77 | Jun 5, 2024 |
| JAG1 | 12 | Jun 4, 2024 |
| JAK1 | 1 | Oct 2, 2023 |
| JAK2 | 3 | Feb 19, 2023 |
| JAK3 | 7 | Mar 5, 2021 |
| JARID2 | 3 | Jun 4, 2024 |
| JMJD8 | 2 | Jun 4, 2024 |
| JPH2 | 4 | Feb 19, 2023 |
| JUP | 1 | Feb 21, 2021 |
| KAAG1 | 2 | Mar 5, 2021 |
| KANK1 | 5 | Oct 2, 2023 |
| KANSL1 | 11 | Dec 14, 2023 |
| KARS1 | 2 | Feb 19, 2023 |
| KAT6A | 17 | Jun 4, 2024 |
| KAT6B | 10 | Mar 5, 2021 |
| KATNB1 | 1 | Mar 5, 2021 |
| KATNIP | 2 | Feb 19, 2023 |
| KBTBD13 | 2 | Feb 21, 2021 |
| KCNA1 | 1 | Feb 21, 2021 |
| KCNA2 | 2 | Oct 2, 2023 |
| KCNA4 | 2 | Feb 21, 2021 |
| KCNB1 | 10 | Jun 4, 2024 |
| KCNC1 | 2 | Feb 21, 2021 |
| KCNC3 | 4 | Jun 4, 2024 |
| KCND3 | 3 | Dec 14, 2023 |
| KCNE1 | 1 | Mar 5, 2021 |
| KCNH1 | 3 | Mar 5, 2021 |
| KCNH2 | 8 | Jun 4, 2024 |
| KCNH5 | 1 | Jun 4, 2024 |
| KCNJ10 | 4 | Feb 19, 2023 |
| KCNJ11 | 33 | Jun 5, 2024 |
| KCNJ13 | 1 | Feb 21, 2021 |
| KCNJ2 | 1 | Mar 14, 2019 |
| KCNJ5 | 3 | Feb 19, 2023 |
| KCNK9 | 2 | Mar 12, 2023 |
| KCNMA1 | 1 | Oct 16, 2017 |
| KCNN2 | 1 | Oct 2, 2023 |
| KCNN3 | 1 | Feb 21, 2021 |
| KCNQ1 | 8 | Dec 14, 2023 |
| KCNQ2 | 13 | Jun 4, 2024 |
| KCNQ3 | 5 | Mar 5, 2021 |
| KCNQ4 | 1 | Mar 5, 2021 |
| KCNQ5 | 3 | Mar 5, 2021 |
| KCNT1 | 14 | Oct 2, 2023 |
| KCNT2 | 3 | Jun 4, 2024 |
| KCNV2 | 1 | Mar 5, 2021 |
| KCTD17 | 2 | Jun 4, 2024 |
| KCTD7 | 2 | Feb 21, 2021 |
| KDM1A | 2 | Feb 21, 2021 |
| KDM4B | 1 | Dec 14, 2023 |
| KDM5B | 5 | Mar 5, 2021 |
| KDM5C | 11 | Jun 4, 2024 |
| KDM6A | 7 | Oct 2, 2023 |
| KDM6B | 4 | Oct 2, 2023 |
| KIAA0586 | 7 | Oct 2, 2023 |
| KIAA0753 | 2 | Mar 5, 2021 |
| KIDINS220 | 6 | Mar 5, 2021 |
| KIF11 | 8 | Feb 19, 2023 |
| KIF12 | 1 | Feb 19, 2023 |
| KIF14 | 11 | Jun 4, 2024 |
| KIF1A | 43 | Dec 14, 2023 |
| KIF1B | 1 | Mar 5, 2021 |
| KIF1C | 5 | Mar 12, 2023 |
| KIF21B | 1 | Feb 19, 2023 |
| KIF22 | 5 | Oct 2, 2023 |
| KIF23 | 1 | Oct 2, 2023 |
| KIF26A | 2 | Dec 14, 2023 |
| KIF2A | 2 | Feb 19, 2023 |
| KIF4A | 5 | Feb 19, 2023 |
| KIF5A | 4 | Mar 5, 2021 |
| KIF5C | 3 | Feb 19, 2023 |
| KIF7 | 17 | Feb 19, 2023 |
| KIRREL1 | 1 | Oct 2, 2023 |
| KIRREL2 | 13 | Jun 5, 2024 |
| KIRREL3 | 1 | Mar 5, 2021 |
| KISS1R | 1 | Feb 21, 2021 |
| KIT | 158 | Jun 5, 2024 |
| KLC2 | 1 | Feb 21, 2021 |
| KLF11 | 1 | Feb 21, 2021 |
| KLF7 | 2 | Jun 4, 2024 |
| KLF9-DT | 1 | Jun 4, 2024 |
| KLHL10 | 1 | Feb 21, 2021 |
| KLHL15 | 3 | Feb 19, 2023 |
| KLHL3 | 1 | Feb 19, 2023 |
| KLHL40 | 6 | Mar 5, 2021 |
| KLHL41 | 1 | Feb 21, 2021 |
| KLHL7 | 1 | Feb 21, 2021 |
| KLHL9 | 1 | Feb 19, 2023 |
| KMT2A | 25 | Jun 4, 2024 |
| KMT2B | 11 | Jun 4, 2024 |
| KMT2C | 17 | Jun 4, 2024 |
| KMT2D | 60 | Jun 4, 2024 |
| KMT2E | 9 | Jun 4, 2024 |
| KMT5B | 2 | Mar 5, 2021 |
| KNL1 | 9 | Mar 5, 2021 |
| KPNA7 | 2 | Aug 17, 2015 |
| KPTN | 5 | Feb 19, 2023 |
| KRAS | 9 | Jun 4, 2024 |
| KRIT1 | 4 | Jun 4, 2024 |
| KRT1 | 1 | Feb 19, 2023 |
| KRT10 | 1 | Feb 21, 2021 |
| KRT10-AS1 | 1 | Feb 21, 2021 |
| KRT14 | 1 | Oct 16, 2017 |
| KRT16 | 2 | Mar 5, 2021 |
| KRT18 | 2 | Feb 21, 2021 |
| KRT5 | 1 | Feb 21, 2021 |
| KRT71 | 1 | Feb 21, 2021 |
| KRT8 | 1 | Feb 21, 2021 |
| KRT81 | 1 | Oct 16, 2017 |
| KRT86 | 1 | Oct 16, 2017 |
| KRT9 | 1 | Jun 4, 2024 |
| KRTAP10-1 | 1 | Mar 5, 2021 |
| KY | 2 | Mar 5, 2021 |
| KYAT1-SPOUT1 | 2 | Jun 17, 2024 |
| KYNU | 1 | Dec 14, 2023 |
| L1CAM | 8 | Jun 4, 2024 |
| L2HGDH | 5 | Jun 4, 2024 |
| LACC1 | 1 | Feb 21, 2021 |
| LAMA1 | 30 | Oct 2, 2023 |
| LAMA2 | 220 | Jun 5, 2024 |
| LAMA3 | 6 | Feb 19, 2023 |
| LAMA4 | 2 | Mar 5, 2021 |
| LAMA5 | 1 | Oct 2, 2023 |
| LAMB1 | 9 | Oct 2, 2023 |
| LAMB2 | 7 | Oct 2, 2023 |
| LAMB3 | 11 | Feb 19, 2023 |
| LAMC2 | 1 | Feb 21, 2021 |
| LAMC3 | 11 | Mar 5, 2021 |
| LAMP2 | 4 | Oct 2, 2023 |
| LARGE1 | 5 | Mar 5, 2021 |
| LARP7 | 1 | Feb 21, 2021 |
| LARS1 | 5 | Feb 21, 2021 |
| LARS2 | 8 | Feb 19, 2023 |
| LARS2-AS1 | 2 | Feb 19, 2023 |
| LAS1L | 3 | Oct 2, 2023 |
| LAT | 2 | Mar 5, 2021 |
| LBR | 2 | Feb 21, 2021 |
| LCA5 | 54 | Jun 5, 2024 |
| LCK | 2 | Mar 5, 2021 |
| LCP2 | 1 | Dec 14, 2023 |
| LCT | 1 | Mar 5, 2021 |
| LDB3 | 5 | Dec 14, 2023 |
| LDHA | 1 | Feb 21, 2021 |
| LDLR | 2 | Feb 19, 2023 |
| LDLRAD2 | 3 | Mar 5, 2021 |
| LEPR | 1 | Feb 21, 2021 |
| LGI1 | 1 | Feb 21, 2021 |
| LGI4 | 2 | Mar 5, 2021 |
| LHX3 | 1 | Feb 21, 2021 |
| LHX4 | 1 | Jun 4, 2024 |
| LHX4-AS1 | 1 | Jun 4, 2024 |
| LIAS | 3 | Feb 21, 2021 |
| LIFR | 3 | Feb 21, 2021 |
| LIG4 | 1 | Feb 21, 2021 |
| LIM2 | 1 | Feb 21, 2021 |
| LIMS2 | 1 | Feb 21, 2021 |
| LINC02166 | 1 | Feb 21, 2021 |
| LINC02456 | 1 | Mar 5, 2021 |
| LINGO1 | 3 | Mar 5, 2021 |
| LINS1 | 11 | Mar 5, 2021 |
| LIPA | 1 | Feb 19, 2023 |
| LIPC | 1 | Jun 4, 2024 |
| LIPE | 3 | Feb 21, 2021 |
| LIPE-AS1 | 3 | Feb 21, 2021 |
| LIPT1 | 2 | Oct 16, 2017 |
| LIPT2 | 3 | Mar 5, 2021 |
| LIPT2-AS1 | 3 | Mar 5, 2021 |
| LIX1L-AS1 | 1 | Feb 21, 2021 |
| LMAN2L | 4 | Mar 5, 2021 |
| LMBRD1 | 5 | Oct 2, 2023 |
| LMF1 | 3 | Feb 21, 2021 |
| LMNA | 18 | Jun 4, 2024 |
| LMNB1 | 2 | Oct 2, 2023 |
| LMNB2 | 6 | Oct 2, 2023 |
| LMOD3 | 5 | Mar 5, 2021 |
| LMX1B | 3 | Oct 2, 2023 |
| LNPK | 1 | Feb 21, 2021 |
| LOC100287944 | 1 | Mar 5, 2021 |
| LOC100506071 | 1 | Feb 21, 2021 |
| LOC100506235 | 2 | Feb 21, 2021 |
| LOC100506321 | 1 | Dec 7, 2023 |
| LOC100507346 | 22 | Jun 5, 2024 |
| LOC100507443 | 2 | Mar 5, 2021 |
| LOC101448202 | 2 | Mar 5, 2021 |
| LOC101927055 | 6 | Oct 2, 2023 |
| LOC101927157 | 1 | Feb 19, 2023 |
| LOC101928008 | 2 | Mar 5, 2021 |
| LOC101928335 | 2 | Dec 14, 2023 |
| LOC101928350 | 1 | Feb 19, 2023 |
| LOC101928371 | 12 | Jun 5, 2024 |
| LOC101928525 | 2 | Feb 21, 2021 |
| LOC101929270 | 1 | Jun 4, 2024 |
| LOC101929710 | 2 | Jun 4, 2024 |
| LOC101930071 | 2 | Feb 21, 2021 |
| LOC102723566 | 2 | Dec 7, 2023 |
| LOC102724058 | 17 | Jun 4, 2024 |
| LOC105369149 | 4 | Feb 21, 2021 |
| LOC105371566 | 6 | Feb 19, 2023 |
| LOC105371856 | 1 | Feb 19, 2023 |
| LOC105378311 | 2 | Jun 5, 2024 |
| LOC106029312 | 1 | Jun 4, 2024 |
| LOC106050102 | 2 | Feb 19, 2023 |
| LOC106096416 | 2 | Feb 21, 2021 |
| LOC106099062 | 37 | Mar 12, 2023 |
| LOC106501712 | 2 | Oct 2, 2023 |
| LOC106560211 | 2 | Oct 2, 2023 |
| LOC106627981 | 36 | Dec 14, 2023 |
| LOC106694315 | 1 | Jun 4, 2024 |
| LOC106694316 | 1 | Jun 4, 2024 |
| LOC106721785 | 1 | Dec 7, 2023 |
| LOC106736614 | 1 | Dec 7, 2023 |
| LOC106780800 | 3 | Oct 2, 2023 |
| LOC106780803 | 1 | Jun 4, 2024 |
| LOC106799833 | 51 | Jun 5, 2024 |
| LOC106804612 | 4 | Sep 21, 2023 |
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| LOC130058947 | 1 | Feb 19, 2023 |
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| LOC130059794 | 1 | Mar 5, 2021 |
| LOC130059818 | 1 | Feb 21, 2021 |
| LOC130059837 | 12 | Jun 5, 2024 |
| LOC130060040 | 11 | Jun 5, 2024 |
| LOC130060041 | 12 | Jun 5, 2024 |
| LOC130060113 | 7 | Jun 5, 2024 |
| LOC130060196 | 1 | Feb 21, 2021 |
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| LOC130062945 | 15 | Jun 5, 2024 |
| LOC130062956 | 1 | Mar 5, 2021 |
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| LOC130063650 | 3 | Jun 5, 2024 |
| LOC130063717 | 2 | Mar 5, 2021 |
| LOC130064074 | 4 | Dec 14, 2023 |
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| LOC130064258 | 1 | Feb 21, 2021 |
| LOC130064281 | 1 | Mar 5, 2021 |
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| LOC130064472 | 1 | Feb 19, 2023 |
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| LOC130064775 | 1 | Feb 21, 2021 |
| LOC130065323 | 1 | Feb 21, 2021 |
| LOC130065345 | 1 | Mar 5, 2021 |
| LOC130065433 | 14 | Jun 5, 2024 |
| LOC130066940 | 1 | Dec 7, 2023 |
| LOC130067016 | 19 | Jun 5, 2024 |
| LOC130067340 | 1 | Feb 21, 2021 |
| LOC130067862 | 15 | Jun 5, 2024 |
| LOC130067864 | 3 | Jun 5, 2024 |
| LOC130068256 | 1 | Feb 21, 2021 |
| LOC130068396 | 1 | Feb 21, 2021 |
| LOC130068621 | 1 | Feb 21, 2021 |
| LOC130068746 | 1 | Feb 21, 2021 |
| LOC130068886 | 1 | Mar 12, 2023 |
| LOC132089454 | 2 | Dec 7, 2023 |
| LOC132089773 | 1 | Oct 2, 2023 |
| LOC132090059 | 2 | Jun 5, 2024 |
| LOC132090445 | 3 | Jun 5, 2024 |
| LOC132090450 | 3 | Jun 5, 2024 |
| LONP1 | 7 | Feb 19, 2023 |
| LOX | 1 | Oct 2, 2023 |
| LOXHD1 | 8 | Feb 19, 2023 |
| LPAR6 | 1 | Nov 14, 2016 |
| LPIN1 | 5 | Jun 4, 2024 |
| LPL | 6 | Oct 2, 2023 |
| LPP | 2 | Feb 21, 2021 |
| LRBA | 21 | Jun 4, 2024 |
| LRFN4 | 1 | Feb 21, 2021 |
| LRP2 | 13 | Jun 4, 2024 |
| LRP4 | 1 | Mar 5, 2021 |
| LRP4-AS1 | 1 | Mar 5, 2021 |
| LRP5 | 6 | Oct 2, 2023 |
| LRP6 | 1 | Mar 5, 2021 |
| LRPPRC | 104 | Jun 5, 2024 |
| LRRC37A2 | 1 | Feb 19, 2023 |
| LRRC56 | 16 | Jun 4, 2024 |
| LRRC8A | 1 | Feb 21, 2021 |
| LRRK2 | 3 | Jun 4, 2024 |
| LRSAM1 | 2 | Mar 5, 2021 |
| LSS | 2 | Mar 5, 2021 |
| LTBP2 | 3 | Jun 4, 2024 |
| LTBP3 | 3 | Mar 5, 2021 |
| LTBP4 | 6 | Oct 2, 2023 |
| LYRM4 | 1 | Feb 21, 2021 |
| LYRM4-AS1 | 1 | Feb 21, 2021 |
| LYRM7 | 1 | Feb 21, 2021 |
| LYST | 81 | Jun 5, 2024 |
| LZTFL1 | 1 | Jun 4, 2024 |
| LZTR1 | 355 | Jun 5, 2024 |
| MAB21L2 | 1 | Mar 5, 2021 |
| MACF1 | 11 | Dec 14, 2023 |
| MACROD2 | 1 | Feb 21, 2021 |
| MAD1L1 | 1 | Jun 4, 2024 |
| MAF | 3 | Mar 5, 2021 |
| MAG | 2 | Feb 21, 2021 |
| MAGED2 | 1 | Oct 2, 2023 |
| MAGEL2 | 13 | Jun 4, 2024 |
| MAGT1 | 1 | Oct 2, 2023 |
| MAK | 1 | Jun 4, 2024 |
| MALT1 | 6 | Mar 5, 2021 |
| MALT1-AS1 | 2 | Mar 5, 2021 |
| MAN1B1 | 18 | Oct 2, 2023 |
| MAN2B1 | 113 | Jun 5, 2024 |
| MAN2C1 | 1 | Oct 2, 2023 |
| MANBA | 4 | Mar 5, 2021 |
| MAOA | 2 | Jun 4, 2024 |
| MAP1B | 6 | Feb 19, 2023 |
| MAP2K1 | 2 | Oct 2, 2023 |
| MAP2K2 | 7 | Mar 5, 2021 |
| MAP3K1 | 1 | Mar 5, 2021 |
| MAP3K20 | 1 | Feb 21, 2021 |
| MAP3K20-AS1 | 1 | Feb 21, 2021 |
| MAP3K7 | 2 | Mar 5, 2021 |
| MAPK8IP3 | 6 | Dec 14, 2023 |
| MAPKBP1 | 6 | Oct 2, 2023 |
| MARS1 | 6 | Jun 4, 2024 |
| MARS2 | 3 | Mar 5, 2021 |
| MASP1 | 2 | Feb 21, 2021 |
| MASP2 | 2 | Mar 5, 2021 |
| MAST1 | 5 | Oct 2, 2023 |
| MATN3 | 1 | Feb 21, 2021 |
| MAX | 23 | Jun 5, 2024 |
| MBD5 | 10 | Mar 5, 2021 |
| MBL2 | 1 | Feb 21, 2021 |
| MBOAT7 | 12 | Mar 5, 2021 |
| MBTPS2 | 10 | Oct 2, 2023 |
| MC1R | 1 | Jun 5, 2024 |
| MC2R | 2 | Feb 19, 2023 |
| MC4R | 3 | Jun 4, 2024 |
| MCCC1 | 100 | Jun 5, 2024 |
| MCCC2 | 103 | Jun 5, 2024 |
| MCM2 | 3 | Mar 5, 2021 |
| MCM3AP | 7 | Feb 19, 2023 |
| MCM3AP-AS1 | 3 | Feb 19, 2023 |
| MCM4 | 4 | Mar 5, 2021 |
| MCM5 | 1 | Mar 5, 2021 |
| MCM7 | 1 | Oct 16, 2017 |
| MCOLN1 | 10 | Oct 7, 2022 |
| MCPH1 | 5 | Mar 5, 2021 |
| MCPH1-AS1 | 1 | Mar 5, 2021 |
| MDH2 | 5 | Mar 5, 2021 |
| MEA1 | 5 | Oct 2, 2023 |
| MECOM | 2 | Oct 2, 2023 |
| MECP2 | 19 | Jun 4, 2024 |
| MECR | 3 | Jun 4, 2024 |
| MED12 | 10 | Dec 14, 2023 |
| MED12L | 2 | Feb 19, 2023 |
| MED13 | 5 | Oct 2, 2023 |
| MED13L | 17 | Jun 4, 2024 |
| MED17 | 6 | Oct 2, 2023 |
| MED23 | 55 | Jun 5, 2024 |
| MED25 | 3 | Mar 5, 2021 |
| MEF2C | 3 | Mar 5, 2021 |
| MEF2C-AS2 | 1 | Feb 21, 2021 |
| MEFV | 21 | Jun 5, 2024 |
| MEGF10 | 4 | Oct 2, 2023 |
| MEGF8 | 13 | Oct 2, 2023 |
| MEIS2 | 4 | Jun 4, 2024 |
| MEN1 | 129 | Jun 5, 2024 |
| MERTK | 3 | Feb 19, 2023 |
| MESP2 | 1 | Feb 21, 2021 |
| MET | 211 | Jun 5, 2024 |
| METTL23 | 7 | Feb 19, 2023 |
| METTL8 | 1 | Feb 21, 2021 |
| MFAP5 | 1 | Mar 5, 2021 |
| MFF | 3 | Mar 5, 2021 |
| MFF-DT | 7 | Jun 4, 2024 |
| MFN2 | 28 | Jun 4, 2024 |
| MFRP | 1 | Aug 17, 2015 |
| MFSD2A | 1 | Feb 21, 2021 |
| MFSD8 | 2 | Mar 5, 2021 |
| MGAT2 | 2 | Mar 5, 2021 |
| MGME1 | 2 | Feb 19, 2023 |
| MHRT | 6 | Dec 14, 2023 |
| MIB1 | 4 | Oct 2, 2023 |
| MICAL1 | 2 | Feb 21, 2021 |
| MICU1 | 3 | Oct 2, 2023 |
| MID1 | 1 | Feb 21, 2021 |
| MID2 | 3 | Dec 14, 2023 |
| MIF4GD-DT | 2 | Mar 5, 2021 |
| MILR1 | 3 | Mar 5, 2021 |
| MINK1 | 2 | Jun 5, 2024 |
| MIPEP | 14 | Mar 5, 2021 |
| MIR3936HG | 1 | Jun 5, 2024 |
| MIR4685 | 1 | Jun 5, 2024 |
| MIR4733HG | 2 | Jun 5, 2024 |
| MIR6084 | 1 | Feb 21, 2021 |
| MIR6505 | 1 | Dec 7, 2023 |
| MIR6511B1 | 1 | Mar 5, 2021 |
| MIR6753 | 1 | Dec 7, 2023 |
| MIR6766 | 1 | Feb 21, 2021 |
| MIR6857 | 1 | Apr 8, 2018 |
| MITD1 | 2 | Oct 16, 2017 |
| MITF | 2 | Jun 5, 2024 |
| MKKS | 54 | Jun 5, 2024 |
| MKRN2 | 1 | Sep 24, 2014 |
| MKRN3 | 1 | Feb 21, 2021 |
| MKS1 | 59 | Jun 5, 2024 |
| MLC1 | 59 | Jun 5, 2024 |
| MLH1 | 349 | Jun 5, 2024 |
| MLH3 | 2 | Dec 7, 2023 |
| MLLT10 | 1 | Mar 5, 2021 |
| MLYCD | 1 | Feb 19, 2023 |
| MMAA | 48 | Jun 5, 2024 |
| MMAB | 33 | Jun 5, 2024 |
| MMACHC | 98 | Jun 5, 2024 |
| MMADHC | 30 | Jun 5, 2024 |
| MME | 1 | Feb 19, 2023 |
| MMP13 | 1 | Feb 21, 2021 |
| MMP2 | 5 | Feb 19, 2023 |
| MMP21 | 2 | Feb 21, 2021 |
| MMP9 | 2 | Feb 21, 2021 |
| MMUT | 5 | Mar 5, 2021 |
| MN1 | 5 | Oct 2, 2023 |
| MNS1 | 1 | Oct 2, 2023 |
| MOCS1 | 30 | Jun 5, 2024 |
| MOCS2 | 4 | Oct 2, 2023 |
| MOGS | 3 | Mar 5, 2021 |
| MORC2 | 7 | Oct 2, 2023 |
| MPC1 | 1 | Feb 21, 2021 |
| MPDU1 | 2 | Mar 5, 2021 |
| MPDU1-AS1 | 1 | Mar 5, 2021 |
| MPDZ | 18 | Oct 2, 2023 |
| MPI | 65 | Jun 5, 2024 |
| MPIG6B | 1 | Feb 21, 2021 |
| MPL | 6 | Mar 5, 2021 |
| MPLKIP | 1 | Feb 21, 2021 |
| MPO | 2 | Jun 4, 2024 |
| MPV17 | 41 | Jun 5, 2024 |
| MPZ | 6 | Jun 4, 2024 |
| MPZL2 | 1 | Mar 5, 2021 |
| MRAS | 1 | Feb 21, 2021 |
| MRE11 | 176 | Jun 5, 2024 |
| MRPL3 | 2 | Oct 2, 2023 |
| MRPL44 | 1 | Feb 21, 2021 |
| MRPS16 | 1 | Feb 19, 2023 |
| MRPS2 | 2 | Feb 21, 2021 |
| MRPS22 | 4 | Mar 5, 2021 |
| MRPS34 | 2 | Feb 19, 2023 |
| MRPS7 | 2 | Jun 4, 2024 |
| MSH2 | 491 | Jun 5, 2024 |
| MSH3 | 510 | Jun 5, 2024 |
| MSH6 | 816 | Jun 5, 2024 |
| MSL2 | 1 | Apr 8, 2018 |
| MSL3 | 1 | Feb 19, 2023 |
| MSTO1 | 4 | Mar 5, 2021 |
| MT-ATP6 | 1 | Aug 17, 2015 |
| MT-ATP8 | 1 | Aug 17, 2015 |
| MT-CO1 | 1 | Aug 17, 2015 |
| MT-CO2 | 1 | Aug 17, 2015 |
| MT-CO3 | 1 | Aug 17, 2015 |
| MT-ND1 | 1 | Aug 17, 2015 |
| MT-ND2 | 1 | Aug 17, 2015 |
| MT-ND3 | 1 | Aug 17, 2015 |
| MT-ND4 | 1 | Aug 17, 2015 |
| MT-ND4L | 1 | Aug 17, 2015 |
| MT-ND5 | 1 | Aug 17, 2015 |
| MT-ND6 | 1 | Aug 17, 2015 |
| MT-TA | 1 | Aug 17, 2015 |
| MT-TC | 1 | Aug 17, 2015 |
| MT-TD | 1 | Aug 17, 2015 |
| MT-TG | 1 | Aug 17, 2015 |
| MT-TH | 1 | Aug 17, 2015 |
| MT-TI | 1 | Aug 17, 2015 |
| MT-TK | 1 | Aug 17, 2015 |
| MT-TM | 1 | Aug 17, 2015 |
| MT-TN | 1 | Aug 17, 2015 |
| MT-TQ | 1 | Aug 17, 2015 |
| MT-TR | 1 | Aug 17, 2015 |
| MT-TS1 | 1 | Aug 17, 2015 |
| MT-TS2 | 1 | Aug 17, 2015 |
| MT-TW | 1 | Aug 17, 2015 |
| MT-TY | 1 | Aug 17, 2015 |
| MTFMT | 7 | Feb 21, 2021 |
| MTHFD1 | 3 | Mar 12, 2023 |
| MTHFR | 93 | Jun 5, 2024 |
| MTM1 | 10 | Jun 5, 2024 |
| MTMR10 | 1 | Mar 5, 2021 |
| MTMR14 | 1 | Feb 21, 2021 |
| MTMR2 | 2 | Feb 21, 2021 |
| MTO1 | 10 | Oct 2, 2023 |
| MTOR | 9 | Dec 14, 2023 |
| MTPAP | 4 | Mar 5, 2021 |
| MTR | 1 | Mar 5, 2021 |
| MTRFR | 1 | Oct 16, 2017 |
| MTRR | 65 | Jun 5, 2024 |
| MTTP | 4 | Feb 21, 2021 |
| MUC1 | 2 | Jun 4, 2024 |
| MUC5B | 5 | Mar 5, 2021 |
| MUC5B-AS1 | 4 | Mar 5, 2021 |
| MUSK | 12 | Dec 14, 2023 |
| MUTYH | 290 | Jun 5, 2024 |
| MVK | 9 | Jun 5, 2024 |
| MVP-DT | 5 | Oct 2, 2023 |
| MYBPC3 | 47 | Jun 4, 2024 |
| MYCL-AS1 | 3 | Jun 4, 2024 |
| MYF5 | 1 | Feb 21, 2021 |
| MYH11 | 7 | Feb 19, 2023 |
| MYH14 | 9 | Feb 19, 2023 |
| MYH2 | 7 | Jun 4, 2024 |
| MYH3 | 4 | Jun 4, 2024 |
| MYH6 | 27 | Jun 4, 2024 |
| MYH7 | 90 | Jun 4, 2024 |
| MYH9 | 7 | Oct 2, 2023 |
| MYHAS | 7 | Jun 4, 2024 |
| MYL11 | 1 | Jun 4, 2024 |
| MYL3 | 1 | Feb 19, 2023 |
| MYLK | 3 | Feb 21, 2021 |
| MYMK | 3 | Dec 14, 2023 |
| MYO15A | 13 | Feb 19, 2023 |
| MYO18B | 9 | Mar 12, 2023 |
| MYO19 | 4 | Feb 19, 2023 |
| MYO1E | 3 | Oct 2, 2023 |
| MYO1F | 1 | Nov 14, 2016 |
| MYO3A | 1 | Mar 5, 2021 |
| MYO5A | 2 | Mar 5, 2021 |
| MYO5B | 2 | Mar 5, 2021 |
| MYO6 | 1 | Jun 4, 2024 |
| MYO7A | 23 | Mar 12, 2023 |
| MYO9A | 5 | Feb 21, 2021 |
| MYOC | 1 | Feb 19, 2023 |
| MYOM1 | 2 | Jun 4, 2024 |
| MYOT | 1 | Feb 21, 2021 |
| MYPN | 3 | Oct 2, 2023 |
| MYRF | 10 | Oct 2, 2023 |
| MYSM1 | 2 | Feb 19, 2023 |
| MYT1L | 4 | Oct 2, 2023 |
| NAA10 | 5 | Feb 21, 2021 |
| NAA15 | 4 | Oct 2, 2023 |
| NACC1 | 1 | Feb 19, 2023 |
| NADK2 | 1 | Feb 21, 2021 |
| NADSYN1 | 2 | Feb 19, 2023 |
| NAGA | 1 | Mar 5, 2021 |
| NAGLU | 8 | Oct 2, 2023 |
| NAGS | 45 | Jun 5, 2024 |
| NALCN | 8 | Oct 2, 2023 |
| NALCN-AS1 | 1 | Mar 5, 2021 |
| NARS1 | 3 | Jun 4, 2024 |
| NARS2 | 7 | Mar 5, 2021 |
| NAXD | 3 | Feb 21, 2021 |
| NAXD-AS1 | 1 | Feb 21, 2021 |
| NAXE | 2 | Feb 21, 2021 |
| NBAS | 14 | Jun 4, 2024 |
| NBEA | 5 | Jun 4, 2024 |
| NBEAL2 | 4 | Feb 21, 2021 |
| NBN | 358 | Jun 5, 2024 |
| NCAPD2 | 3 | Feb 21, 2021 |
| NCAPD3 | 6 | Mar 5, 2021 |
| NCAPG2 | 2 | Feb 19, 2023 |
| NCAPH | 2 | Feb 21, 2021 |
| NCAPH2 | 26 | Jun 5, 2024 |
| NCF1 | 1 | Jun 4, 2024 |
| NCF2 | 2 | Mar 5, 2021 |
| NCKAP1L | 1 | Feb 19, 2023 |
| NDE1 | 8 | Feb 19, 2023 |
| NDP | 1 | Jun 4, 2024 |
| NDP-AS1 | 1 | Jun 4, 2024 |
| NDRG1 | 2 | Mar 5, 2021 |
| NDST1 | 5 | Mar 5, 2021 |
| NDUFA10 | 4 | Dec 14, 2023 |
| NDUFA11 | 5 | Oct 2, 2023 |
| NDUFA12 | 2 | Mar 5, 2021 |
| NDUFA13 | 4 | Dec 14, 2023 |
| NDUFA2 | 2 | Jun 4, 2024 |
| NDUFA8 | 2 | Dec 14, 2023 |
| NDUFA9 | 6 | Feb 19, 2023 |
| NDUFAF1 | 1 | Feb 19, 2023 |
| NDUFAF2 | 2 | Mar 5, 2021 |
| NDUFAF3 | 5 | Mar 12, 2023 |
| NDUFAF4 | 2 | Mar 5, 2021 |
| NDUFAF5 | 58 | Jun 5, 2024 |
| NDUFAF6 | 7 | Mar 5, 2021 |
| NDUFAF8 | 2 | Feb 19, 2023 |
| NDUFB11 | 1 | Feb 21, 2021 |
| NDUFB3 | 1 | Feb 21, 2021 |
| NDUFS1 | 14 | Jun 4, 2024 |
| NDUFS2 | 5 | Jun 4, 2024 |
| NDUFS3 | 2 | Feb 19, 2023 |
| NDUFS4 | 27 | Jun 5, 2024 |
| NDUFS6 | 15 | Jun 5, 2024 |
| NDUFS7 | 3 | Feb 19, 2023 |
| NDUFS8 | 5 | Dec 14, 2023 |
| NDUFV1 | 20 | Dec 14, 2023 |
| NDUFV2 | 3 | Feb 19, 2023 |
| NDUFV2-AS1 | 1 | Feb 19, 2023 |
| NEB | 501 | Jun 5, 2024 |
| NECAP1 | 2 | Mar 5, 2021 |
| NECTIN1 | 1 | Feb 21, 2021 |
| NECTIN4 | 2 | Mar 5, 2021 |
| NEDD4L | 4 | Oct 2, 2023 |
| NEFH | 2 | Mar 5, 2021 |
| NEFL | 1 | Feb 19, 2023 |
| NEK1 | 4 | Feb 19, 2023 |
| NEK2 | 1 | Mar 12, 2023 |
| NEK8 | 4 | Feb 19, 2023 |
| NEK9 | 3 | Mar 5, 2021 |
| NEXMIF | 16 | Jun 4, 2024 |
| NEXN | 9 | Mar 12, 2023 |
| NF1 | 549 | Jun 5, 2024 |
| NF2 | 71 | Jun 5, 2024 |
| NFASC | 5 | Feb 19, 2023 |
| NFE2L2 | 1 | Mar 5, 2021 |
| NFIA | 2 | Feb 21, 2021 |
| NFIB | 1 | Jun 4, 2024 |
| NFIX | 3 | Feb 19, 2023 |
| NFKB1 | 2 | Feb 21, 2021 |
| NFKB2 | 2 | Feb 21, 2021 |
| NFKBIA | 1 | Mar 5, 2021 |
| NFU1 | 2 | Oct 2, 2023 |
| NGF | 3 | Mar 5, 2021 |
| NGF-AS1 | 3 | Mar 5, 2021 |
| NGLY1 | 7 | Dec 14, 2023 |
| NHERF1 | 2 | Feb 19, 2023 |
| NHLH1 | 1 | Mar 5, 2021 |
| NHLRC1 | 4 | Oct 2, 2023 |
| NHLRC2 | 1 | Feb 21, 2021 |
| NHP2 | 1 | Feb 10, 2021 |
| NHS | 4 | Feb 21, 2021 |
| NICN1 | 4 | Jun 5, 2024 |
| NIN | 4 | Mar 5, 2021 |
| NIPAL4 | 2 | Mar 5, 2021 |
| NIPBL | 16 | Oct 2, 2023 |
| NIPSNAP3B | 1 | Mar 5, 2021 |
| NKAP | 1 | Feb 19, 2023 |
| NKIRAS1 | 1 | Feb 21, 2021 |
| NKX2-1 | 3 | Feb 21, 2021 |
| NKX3-2 | 1 | Feb 21, 2021 |
| NKX6-2 | 3 | Feb 19, 2023 |
| NLGN3 | 1 | Feb 21, 2021 |
| NLGN4X | 3 | Feb 21, 2021 |
| NLRC4 | 3 | Mar 5, 2021 |
| NLRP1 | 1 | Mar 5, 2021 |
| NLRP12 | 7 | Jun 4, 2024 |
| NLRP3 | 3 | Feb 21, 2021 |
| NLRP7 | 1 | Feb 21, 2021 |
| NNT | 4 | Feb 21, 2021 |
| NOBOX | 1 | Feb 21, 2021 |
| NOD2 | 4 | Mar 5, 2021 |
| NODAL | 4 | Jun 4, 2024 |
| NOL3 | 1 | Mar 5, 2021 |
| NOP56 | 1 | Feb 21, 2021 |
| NOS3 | 1 | Feb 21, 2021 |
| NOTCH1 | 22 | Jun 4, 2024 |
| NOTCH2 | 13 | Jun 4, 2024 |
| NOTCH3 | 7 | Oct 2, 2023 |
| NPC1 | 21 | Mar 5, 2021 |
| NPC2 | 3 | Mar 5, 2021 |
| NPHP1 | 59 | Jun 5, 2024 |
| NPHP3 | 4 | Feb 21, 2021 |
| NPHP3-ACAD11 | 6 | Feb 21, 2021 |
| NPHP3-AS1 | 1 | Feb 21, 2021 |
| NPHP4 | 8 | Feb 19, 2023 |
| NPHS1 | 178 | Jun 5, 2024 |
| NPHS2 | 65 | Jun 5, 2024 |
| NPPA | 1 | Oct 2, 2023 |
| NPPA-AS1 | 1 | Oct 2, 2023 |
| NPR2 | 2 | Mar 5, 2021 |
| NPRL2 | 2 | Feb 19, 2023 |
| NPRL3 | 2 | Oct 2, 2023 |
| NR1H4 | 3 | Dec 22, 2015 |
| NR2C2AP | 1 | Feb 21, 2021 |
| NR2E3 | 76 | Jun 5, 2024 |
| NR2F1 | 2 | Feb 19, 2023 |
| NR2F1-AS1 | 2 | Feb 19, 2023 |
| NR2F2 | 1 | Feb 19, 2023 |
| NR3C1 | 2 | Feb 19, 2023 |
| NR3C2 | 2 | Feb 21, 2021 |
| NR4A2 | 2 | Oct 2, 2023 |
| NR5A1 | 1 | Mar 5, 2021 |
| NRAP | 1 | Feb 19, 2023 |
| NRL | 6 | Mar 12, 2023 |
| NRXN1 | 9 | Mar 5, 2021 |
| NSD1 | 23 | Jun 4, 2024 |
| NSD2 | 2 | Oct 2, 2023 |
| NSDHL | 2 | Feb 19, 2023 |
| NSMCE2 | 1 | Mar 5, 2021 |
| NSMCE3 | 1 | Mar 5, 2021 |
| NSUN2 | 8 | Feb 19, 2023 |
| NSUN6 | 1 | Feb 21, 2021 |
| NT5C2 | 1 | Feb 21, 2021 |
| NT5DC1 | 1 | Feb 21, 2021 |
| NTHL1 | 168 | Jun 5, 2024 |
| NTNG2 | 1 | Feb 21, 2021 |
| NTRK1 | 7 | Mar 5, 2021 |
| NTRK2 | 1 | Dec 14, 2023 |
| NUBPL | 2 | Oct 16, 2017 |
| NUP133 | 2 | Feb 21, 2021 |
| NUP155 | 1 | Mar 5, 2021 |
| NUP160 | 1 | Feb 21, 2021 |
| NUP214 | 3 | Feb 19, 2023 |
| NUP37 | 1 | Feb 21, 2021 |
| NUP62 | 1 | Feb 21, 2021 |
| NUP85 | 1 | Feb 21, 2021 |
| NUP88 | 2 | Feb 19, 2023 |
| NUP93 | 1 | Feb 19, 2023 |
| NUS1 | 4 | Mar 5, 2021 |
| OAT | 61 | Jun 5, 2024 |
| OBSCN | 1 | Jun 4, 2024 |
| OBSL1 | 5 | Mar 12, 2023 |
| OCA2 | 100 | Jun 5, 2024 |
| OCLN | 2 | Feb 21, 2021 |
| OCRL | 5 | Mar 5, 2021 |
| ODAD1 | 1 | Feb 21, 2021 |
| ODAD2 | 1 | Oct 2, 2023 |
| ODAD3 | 4 | Mar 5, 2021 |
| ODAD4 | 1 | Mar 5, 2021 |
| OFD1 | 8 | Oct 2, 2023 |
| OGDH | 1 | Feb 21, 2021 |
| OGT | 6 | Dec 14, 2023 |
| OPA1 | 6 | Jun 4, 2024 |
| OPA3 | 15 | Jun 5, 2024 |
| OPHN1 | 6 | Oct 2, 2023 |
| OPLAH | 2 | Mar 5, 2021 |
| ORAI1 | 4 | Jun 4, 2024 |
| ORC1 | 4 | Jun 4, 2024 |
| ORC6 | 1 | Mar 5, 2021 |
| OSGEP | 3 | Mar 5, 2021 |
| OSGIN2 | 1 | Jun 5, 2024 |
| OTC | 19 | Jun 5, 2024 |
| OTOA | 4 | Feb 19, 2023 |
| OTOF | 7 | Mar 12, 2023 |
| OTOG | 16 | Feb 19, 2023 |
| OTOGL | 7 | Mar 5, 2021 |
| OTUD6B | 9 | Mar 5, 2021 |
| OTULIN | 2 | Feb 21, 2021 |
| OTX2 | 2 | Feb 19, 2023 |
| OXCT1 | 1 | Feb 21, 2021 |
| OXR1 | 1 | Feb 19, 2023 |
| P2RX2 | 1 | Feb 21, 2021 |
| P2RY12 | 1 | Feb 19, 2023 |
| P3H1 | 1 | Feb 21, 2021 |
| P4HB | 1 | Mar 5, 2021 |
| P4HTM | 3 | Feb 21, 2021 |
| PACS1 | 2 | Feb 19, 2023 |
| PACS2 | 3 | Feb 19, 2023 |
| PAFAH1B1 | 3 | Oct 16, 2017 |
| PAH | 287 | Jun 5, 2024 |
| PAK1 | 1 | Feb 19, 2023 |
| PAK3 | 2 | Jun 4, 2024 |
| PALB2 | 495 | Jun 5, 2024 |
| PANK2 | 5 | Dec 14, 2023 |
| PAPSS2 | 2 | Feb 21, 2021 |
| PARN | 2 | Mar 5, 2021 |
| PARS2 | 2 | Oct 2, 2023 |
| PAX1 | 3 | Feb 21, 2021 |
| PAX3 | 3 | Mar 5, 2021 |
| PAX6 | 3 | Jun 4, 2024 |
| PAX6DRR | 1 | Mar 5, 2021 |
| PAX7 | 2 | Feb 21, 2021 |
| PAX8 | 2 | Feb 21, 2021 |
| PAX8-AS1 | 1 | Feb 21, 2021 |
| PBRM1 | 1 | Jul 1, 2021 |
| PBX1 | 3 | Jun 4, 2024 |
| PC | 49 | Jun 5, 2024 |
| PCCA | 106 | Jun 5, 2024 |
| PCCB | 87 | Jun 5, 2024 |
| PCDH12 | 5 | Feb 21, 2021 |
| PCDH15 | 132 | Jun 5, 2024 |
| PCDH19 | 6 | Oct 2, 2023 |
| PCK1 | 1 | Feb 21, 2021 |
| PCK2 | 5 | Mar 12, 2023 |
| PCLO | 19 | Mar 5, 2021 |
| PCNA | 1 | Mar 5, 2021 |
| PCNT | 12 | Feb 19, 2023 |
| PCOTH | 1 | Feb 21, 2021 |
| PCSK1 | 2 | Jun 4, 2024 |
| PCSK9 | 3 | Oct 2, 2023 |
| PCYT1A | 3 | Mar 5, 2021 |
| PDCD10 | 3 | Feb 19, 2023 |
| PDE11A | 3 | Mar 5, 2021 |
| PDE3B | 1 | Feb 19, 2023 |
| 1 | Mar 5, 2021 | |
| PDGFB | 1 | Feb 21, 2021 |
| PDGFRA | 162 | Jun 5, 2024 |
| PDGFRB | 2 | Oct 2, 2023 |
| PDHA1 | 12 | Mar 12, 2023 |
| PDHB | 13 | Jun 5, 2024 |
| PDHX | 6 | Dec 14, 2023 |
| PDK1-AS1 | 1 | Feb 21, 2021 |
| PDP1 | 1 | Feb 19, 2023 |
| PDS5A | 2 | Apr 8, 2018 |
| PDSS1 | 2 | Mar 5, 2021 |
| PDSS2 | 5 | Oct 2, 2023 |
| PDX1 | 1 | Feb 21, 2021 |
| PDYN | 1 | Mar 5, 2021 |
| PDYN-AS1 | 1 | Mar 5, 2021 |
| PDZD7 | 7 | Oct 2, 2023 |
| PDZD9 | 3 | Mar 5, 2021 |
| PEPD | 1 | Feb 21, 2021 |
| PERCC1 | 1 | Oct 2, 2023 |
| PEX1 | 197 | Jun 5, 2024 |
| PEX10 | 54 | Jun 5, 2024 |
| PEX12 | 42 | Jun 5, 2024 |
| PEX16 | 5 | Mar 12, 2023 |
| PEX19 | 3 | Mar 5, 2021 |
| PEX2 | 40 | Jun 5, 2024 |
| PEX26 | 24 | Jun 5, 2024 |
| PEX3 | 3 | Jun 4, 2024 |
| PEX5 | 13 | Oct 2, 2023 |
| PEX6 | 118 | Jun 5, 2024 |
| PEX7 | 65 | Jun 5, 2024 |
| PFKM | 51 | Jun 5, 2024 |
| PGAM2 | 3 | Oct 2, 2023 |
| PGAP1 | 7 | Mar 5, 2021 |
| PGAP2 | 1 | Feb 21, 2021 |
| PGAP3 | 4 | Mar 5, 2021 |
| PGK1 | 1 | Oct 2, 2023 |
| PGM3 | 4 | Mar 5, 2021 |
| PHC1 | 2 | Mar 5, 2021 |
| PHEX | 3 | Feb 21, 2021 |
| PHF3 | 74 | Jun 5, 2024 |
| PHF6 | 3 | Feb 19, 2023 |
| PHF8 | 9 | Jun 4, 2024 |
| PHGDH | 7 | Mar 12, 2023 |
| PHIP | 8 | Feb 19, 2023 |
| PHKA1 | 7 | Jun 4, 2024 |
| PHKA2 | 6 | Jun 4, 2024 |
| PHKA2-AS1 | 1 | Feb 21, 2021 |
| PHKB | 2 | Feb 19, 2023 |
| PHKG2 | 6 | Dec 14, 2023 |
| PHOX2B | 60 | Jun 5, 2024 |
| PHOX2B-AS1 | 8 | Jun 5, 2024 |
| PHYH | 29 | Jun 5, 2024 |
| PI4KA | 7 | Feb 19, 2023 |
| PIBF1 | 2 | Mar 5, 2021 |
| PIEZO1 | 12 | Jun 4, 2024 |
| PIEZO2 | 12 | Feb 19, 2023 |
| PIGA | 5 | Mar 5, 2021 |
| PIGB | 3 | Oct 2, 2023 |
| PIGBOS1 | 1 | Oct 2, 2023 |
| PIGC | 4 | Mar 5, 2021 |
| PIGG | 25 | Feb 19, 2023 |
| PIGL | 2 | Oct 2, 2023 |
| PIGM | 1 | Oct 2, 2023 |
| PIGN | 16 | Jun 4, 2024 |
| PIGO | 6 | Feb 19, 2023 |
| PIGP | 1 | Feb 21, 2021 |
| PIGS | 3 | Feb 21, 2021 |
| PIGT | 3 | Mar 5, 2021 |
| PIGU | 1 | Feb 19, 2023 |
| PIGV | 5 | Mar 5, 2021 |
| PIGW | 4 | Feb 19, 2023 |
| PIGY | 3 | Mar 5, 2021 |
| PIK3C2G | 1 | Feb 21, 2021 |
| PIK3CA | 7 | Dec 14, 2023 |
| PIK3CD | 6 | Jun 4, 2024 |
| PIK3R1 | 5 | Oct 2, 2023 |
| PIK3R2 | 2 | Feb 19, 2023 |
| PIK3R5 | 5 | Feb 19, 2023 |
| PINK1 | 4 | Feb 21, 2021 |
| PINK1-AS | 2 | Feb 21, 2021 |
| PITPNM3 | 1 | Mar 5, 2021 |
| PITX1 | 1 | Mar 5, 2021 |
| PITX3 | 2 | Jun 4, 2024 |
| PKD1 | 24 | Feb 19, 2023 |
| PKD1-AS1 | 3 | Mar 5, 2021 |
| PKD1L1 | 13 | Jun 4, 2024 |
| PKD1L1-AS1 | 2 | Jun 4, 2024 |
| PKD2 | 4 | Mar 5, 2021 |
| PKD2L2-DT | 1 | Feb 21, 2021 |
| PKHD1 | 511 | Jun 5, 2024 |
| PKLR | 3 | Mar 5, 2021 |
| PKP2 | 7 | Jun 4, 2024 |
| PLA2G6 | 18 | Mar 12, 2023 |
| PLA2G7 | 1 | Feb 21, 2021 |
| PLAA | 4 | Mar 5, 2021 |
| PLAU | 1 | Feb 21, 2021 |
| PLCB1 | 5 | Mar 5, 2021 |
| PLCB4 | 1 | Feb 21, 2021 |
| PLCE1 | 5 | Mar 5, 2021 |
| PLCG2 | 9 | Oct 2, 2023 |
| PLCH2 | 1 | Jun 5, 2024 |
| PLCZ1 | 1 | Feb 21, 2021 |
| PLD1 | 9 | Oct 2, 2023 |
| PLEC | 19 | Feb 19, 2023 |
| PLEKHG2 | 13 | Oct 2, 2023 |
| PLEKHG5 | 7 | Feb 19, 2023 |
| PLG | 3 | Mar 5, 2021 |
| PLIN1 | 2 | Mar 5, 2021 |
| PLK4 | 3 | Mar 5, 2021 |
| PLN | 2 | Feb 21, 2021 |
| PLOD1 | 9 | Oct 2, 2023 |
| PLOD3 | 1 | Mar 5, 2021 |
| PLP1 | 10 | Oct 2, 2023 |
| PLPBP | 5 | Mar 5, 2021 |
| PLS3 | 2 | Feb 19, 2023 |
| PLUT | 1 | Feb 21, 2021 |
| PLXNA1 | 1 | Feb 19, 2023 |
| PMM2 | 109 | Jun 5, 2024 |
| PMP22 | 1 | Feb 21, 2021 |
| PMPCA | 5 | Mar 5, 2021 |
| PMPCB | 5 | Mar 5, 2021 |
| PMS1 | 2 | Dec 7, 2023 |
| PMS2 | 435 | Jun 5, 2024 |
| PNKP | 7 | Mar 5, 2021 |
| PNP | 3 | Feb 19, 2023 |
| PNPLA2 | 2 | Mar 5, 2021 |
| PNPLA6 | 2 | Feb 21, 2021 |
| PNPLA8 | 4 | Feb 19, 2023 |
| PNPO | 2 | Jun 4, 2024 |
| PNPT1 | 25 | Oct 2, 2023 |
| POC1A | 5 | Mar 5, 2021 |
| POGZ | 12 | Dec 14, 2023 |
| POLA1 | 3 | Jun 4, 2024 |
| POLD1 | 93 | Jun 5, 2024 |
| POLE | 103 | Jun 5, 2024 |
| POLG | 155 | Jun 5, 2024 |
| POLG2 | 3 | Mar 5, 2021 |
| POLGARF | 155 | Jun 5, 2024 |
| POLR1A | 1 | Feb 21, 2021 |
| POLR1C | 18 | Jun 4, 2024 |
| POLR1D | 2 | Jun 4, 2024 |
| POLR2A | 3 | Feb 19, 2023 |
| POLR2F | 5 | Jun 4, 2024 |
| POLR3A | 18 | Jun 4, 2024 |
| POLR3B | 9 | Oct 2, 2023 |
| POLR3H | 6 | Oct 2, 2023 |
| POLRMT | 14 | Jun 4, 2024 |
| POMC | 1 | Jun 4, 2024 |
| POMGNT1 | 94 | Jun 5, 2024 |
| POMGNT2 | 5 | Mar 5, 2021 |
| POMK | 3 | Dec 14, 2023 |
| POMP | 1 | Oct 2, 2023 |
| POMT1 | 98 | Jun 5, 2024 |
| POMT2 | 57 | Jun 5, 2024 |
| POP1 | 1 | Feb 21, 2021 |
| POR | 1 | Feb 21, 2021 |
| PORCN | 3 | Dec 14, 2023 |
| POT1 | 1 | Dec 14, 2023 |
| POU3F3 | 2 | Oct 2, 2023 |
| POU4F3 | 2 | Feb 19, 2023 |
| PPCS | 1 | Feb 21, 2021 |
| PPM1D | 3 | Mar 5, 2021 |
| PPP1R12A | 1 | Feb 19, 2023 |
| PPP2CA | 3 | Feb 19, 2023 |
| PPP2R1A | 5 | Oct 2, 2023 |
| PPP2R3A | 1 | Apr 8, 2018 |
| PPP2R5D | 6 | Oct 2, 2023 |
| PPP3CA | 3 | Apr 16, 2021 |
| PPT1 | 49 | Jun 5, 2024 |
| PQBP1 | 7 | Jun 4, 2024 |
| PRDM16 | 2 | Oct 2, 2023 |
| PRDM5 | 1 | Feb 19, 2023 |
| PRDM6 | 1 | Mar 5, 2021 |
| PRDM8 | 2 | Mar 5, 2021 |
| PREPL | 2 | Feb 21, 2021 |
| PRF1 | 88 | Jun 5, 2024 |
| PRICKLE1 | 1 | Oct 2, 2023 |
| PRICKLE2 | 2 | Oct 16, 2017 |
| PRICKLE2-AS1 | 1 | Oct 16, 2017 |
| PRKAG2 | 1 | Feb 10, 2021 |
| PRKAR1A | 29 | Jun 5, 2024 |
| PRKAR1B | 1 | Dec 14, 2023 |
| PRKCD | 1 | Mar 5, 2021 |
| PRKCG | 2 | Feb 19, 2023 |
| PRKCSH | 1 | Mar 5, 2021 |
| PRKD1 | 5 | Mar 5, 2021 |
| PRKDC | 14 | Mar 5, 2021 |
| PRKN | 4 | Mar 5, 2021 |
| PRKRA | 2 | Mar 14, 2019 |
| PRMT7 | 4 | Mar 5, 2021 |
| PROC | 2 | Jun 4, 2024 |
| PROM1 | 1 | Feb 21, 2021 |
| PROP1 | 30 | Jun 5, 2024 |
| PROS1 | 1 | Mar 5, 2021 |
| PRPF4 | 1 | Feb 21, 2021 |
| PRPS1 | 4 | Feb 19, 2023 |
| PRR12 | 3 | Nov 15, 2017 |
| PRRT2 | 5 | Oct 2, 2023 |
| PRSS12 | 9 | Oct 2, 2023 |
| PRSS23 | 1 | Mar 5, 2021 |
| PRUNE1 | 4 | Mar 5, 2021 |
| PRX | 16 | Oct 2, 2023 |
| PSAP | 7 | Oct 2, 2023 |
| PSAT1 | 2 | Mar 5, 2021 |
| PSEN1 | 1 | Jun 4, 2024 |
| PSMB4 | 1 | Mar 5, 2021 |
| PSMB8 | 1 | Mar 5, 2021 |
| PSMD12 | 2 | Mar 5, 2021 |
| PSORS1C1 | 1 | Feb 21, 2021 |
| PSPH | 1 | Mar 5, 2021 |
| PSTPIP1 | 1 | Oct 2, 2023 |
| PTCD3 | 3 | Feb 19, 2023 |
| PTCH1 | 156 | Jun 5, 2024 |
| PTCH2 | 14 | Jun 5, 2024 |
| PTCHD1 | 2 | Oct 2, 2023 |
| PTCHD1-AS | 2 | Feb 21, 2021 |
| PTDSS1 | 3 | Oct 2, 2023 |
| PTEN | 84 | Jun 5, 2024 |
| PTGIS | 1 | Mar 5, 2021 |
| PTH1R | 2 | Feb 19, 2023 |
| PTPN11 | 86 | Jun 4, 2024 |
| PTPN23 | 2 | Feb 19, 2023 |
| PTPRC | 6 | Mar 5, 2021 |
| PTPRO | 3 | Oct 2, 2023 |
| PTPRQ | 1 | Oct 2, 2023 |
| PTRH2 | 1 | Feb 21, 2021 |
| PTS | 54 | Jun 5, 2024 |
| PUF60 | 6 | Jun 4, 2024 |
| PUM1 | 4 | Jun 4, 2024 |
| PURA | 4 | Oct 2, 2023 |
| PUS1 | 22 | Jun 5, 2024 |
| PUS7 | 3 | Feb 19, 2023 |
| PYCR1 | 4 | Oct 2, 2023 |
| PYCR2 | 2 | Mar 5, 2021 |
| PYGL | 8 | Feb 19, 2023 |
| PYGM | 125 | Jun 5, 2024 |
| PYROXD1 | 3 | Mar 5, 2021 |
| PYURF | 3 | Mar 5, 2021 |
| PYY | 4 | Jun 5, 2024 |
| QARS1 | 4 | Oct 2, 2023 |
| QDPR | 2 | Feb 21, 2021 |
| QRICH1 | 3 | Jun 4, 2024 |
| RAB11B | 1 | Feb 21, 2021 |
| RAB23 | 1 | Feb 21, 2021 |
| RAB27A | 1 | Mar 14, 2019 |
| RAB33A | 5 | Dec 7, 2023 |
| RAB3GAP1 | 3 | Feb 21, 2021 |
| RAB3GAP2 | 3 | Mar 5, 2021 |
| RAB9B | 10 | Oct 2, 2023 |
| RAC1 | 3 | Oct 2, 2023 |
| RAC3 | 1 | Feb 21, 2021 |
| RAD21 | 4 | Oct 2, 2023 |
| RAD50 | 213 | Jun 5, 2024 |
| RAD51C | 226 | Jun 5, 2024 |
| RAD51D | 184 | Jun 5, 2024 |
| RAD51L3-RFFL | 184 | Jun 5, 2024 |
| RAF1 | 9 | Feb 19, 2023 |
| RAG1 | 88 | Jun 5, 2024 |
| RAG2 | 46 | Jun 5, 2024 |
| RAI1 | 7 | Jun 4, 2024 |
| RALA | 1 | Oct 2, 2023 |
| RALGAPA1 | 1 | Oct 2, 2023 |
| RANBP2 | 6 | Jun 4, 2024 |
| RAPSN | 56 | Jun 5, 2024 |
| RARB | 3 | Jun 4, 2024 |
| RARS1 | 11 | Jun 4, 2024 |
| RARS2 | 133 | Jun 5, 2024 |
| RASA1 | 3 | Mar 5, 2021 |
| RB1 | 109 | Jun 5, 2024 |
| RBBP8 | 3 | Mar 5, 2021 |
| RBCK1 | 1 | Mar 5, 2021 |
| RBM10 | 4 | Dec 14, 2023 |
| RBM20 | 3 | Feb 19, 2023 |
| RBM28 | 1 | Feb 21, 2021 |
| RBM8A | 2 | Jun 4, 2024 |
| RBMX | 1 | Feb 21, 2021 |
| RDH11 | 1 | Feb 21, 2021 |
| RDH12 | 70 | Jun 5, 2024 |
| RECQL4 | 45 | Jun 5, 2024 |
| REEP1 | 6 | Jun 4, 2024 |
| REEP2 | 2 | Feb 21, 2021 |
| RELN | 14 | Jun 4, 2024 |
| RERE | 15 | Oct 2, 2023 |
| REST | 1 | Feb 10, 2021 |
| RET | 210 | Jun 5, 2024 |
| RETREG1 | 3 | Mar 5, 2021 |
| RETREG1-AS1 | 2 | Mar 5, 2021 |
| RFC1 | 2 | Feb 19, 2023 |
| RFT1 | 4 | Oct 2, 2023 |
| RFWD3 | 1 | Feb 19, 2023 |
| RFX6 | 3 | Mar 5, 2021 |
| RFXANK | 5 | Jun 4, 2024 |
| RFXAP | 2 | Feb 21, 2021 |
| RGR | 1 | Mar 5, 2021 |
| RHAG | 1 | Feb 19, 2023 |
| RHBDF2 | 138 | Jun 5, 2024 |
| RHOA | 1 | Feb 19, 2023 |
| RHOB | 1 | Feb 19, 2023 |
| RHOBTB2 | 5 | Oct 2, 2023 |
| RIC1 | 2 | Feb 19, 2023 |
| RIF1 | 163 | Jun 5, 2024 |
| RILPL1 | 1 | Jun 4, 2024 |
| RIMS1 | 2 | Feb 19, 2023 |
| RINT1 | 2 | Dec 7, 2023 |
| RIPK1 | 6 | Feb 19, 2023 |
| RIPK4 | 3 | Mar 5, 2021 |
| RIPPLY2 | 1 | Feb 19, 2023 |
| RIPPLY2-CYB5R4 | 1 | Feb 19, 2023 |
| RIT1 | 3 | Feb 19, 2023 |
| RLIG1 | 19 | Jun 5, 2024 |
| RLIM | 2 | Oct 2, 2023 |
| RMND1 | 7 | Mar 12, 2023 |
| RMND5B | 1 | Feb 10, 2021 |
| RNASEH2A | 2 | Mar 5, 2021 |
| RNASEH2C | 4 | Mar 5, 2021 |
| RNF113A | 2 | Feb 21, 2021 |
| RNF135 | 1 | Mar 5, 2021 |
| RNF14 | 3 | Feb 21, 2021 |
| RNF168 | 4 | Feb 19, 2023 |
| RNF17 | 2 | Mar 5, 2021 |
| RNF170 | 1 | Feb 21, 2021 |
| RNF213 | 2 | Mar 5, 2021 |
| RNF213-AS1 | 1 | Mar 5, 2021 |
| RNF43 | 156 | Jun 5, 2024 |
| RNPC3 | 1 | Feb 19, 2023 |
| RNU7-1 | 2 | Feb 19, 2023 |
| ROBO1 | 1 | Oct 2, 2023 |
| ROBO2 | 1 | Mar 5, 2021 |
| ROBO3 | 1 | Oct 16, 2017 |
| ROBO4 | 1 | Feb 19, 2023 |
| ROGDI | 2 | Mar 5, 2021 |
| ROM1 | 1 | Feb 21, 2021 |
| ROR1 | 1 | Feb 21, 2021 |
| ROR2 | 1 | Feb 21, 2021 |
| RORA | 5 | Oct 2, 2023 |
| RORA-AS1 | 4 | Oct 2, 2023 |
| RORB | 1 | Oct 2, 2023 |
| RPE65 | 111 | Jun 5, 2024 |
| RPGR | 13 | Jun 5, 2024 |
| RPGRIP1 | 3 | Mar 5, 2021 |
| RPGRIP1L | 10 | Mar 5, 2021 |
| RPL10 | 2 | Mar 5, 2021 |
| RPL11 | 1 | Feb 19, 2023 |
| RPL13 | 1 | Feb 21, 2021 |
| RPL15 | 1 | Feb 21, 2021 |
| RPL35A | 1 | Feb 10, 2021 |
| RPL36A-HNRNPH2 | 4 | Jun 4, 2024 |
| RPL5 | 5 | Dec 14, 2023 |
| RPS10 | 3 | Feb 10, 2021 |
| RPS10-NUDT3 | 3 | Feb 10, 2021 |
| RPS19 | 3 | Feb 19, 2023 |
| RPS20 | 10 | Jun 5, 2024 |
| RPS23 | 1 | Feb 21, 2021 |
| RPS24 | 6 | Feb 19, 2023 |
| RPS26 | 2 | Feb 19, 2023 |
| RPS6KA3 | 2 | Jun 4, 2024 |
| RPS7 | 3 | Mar 5, 2021 |
| RRAS2 | 2 | Oct 2, 2023 |
| RRM2B | 8 | Mar 12, 2023 |
| RS1 | 14 | Jun 5, 2024 |
| RSPH1 | 5 | Mar 5, 2021 |
| RSPH3 | 2 | Jun 4, 2024 |
| RSPRY1 | 2 | Feb 21, 2021 |
| RSRC1 | 1 | Feb 21, 2021 |
| RTEL1 | 90 | Jun 5, 2024 |
| RTEL1-TNFRSF6B | 90 | Jun 5, 2024 |
| RTN2 | 3 | Feb 19, 2023 |
| RTN4IP1 | 3 | Oct 2, 2023 |
| RTTN | 16 | Jun 4, 2024 |
| RUBCN | 2 | Feb 21, 2021 |
| RUNX1 | 86 | Jun 5, 2024 |
| RUNX1-AS1 | 8 | Jun 5, 2024 |
| RUNX2 | 3 | Jun 4, 2024 |
| RUSC2 | 16 | Mar 5, 2021 |
| RXYLT1 | 1 | Mar 5, 2021 |
| RYR1 | 58 | Jun 4, 2024 |
| RYR2 | 31 | Jun 4, 2024 |
| SACS | 252 | Jun 5, 2024 |
| SALL1 | 1 | Mar 5, 2021 |
| SALL2 | 1 | Mar 5, 2021 |
| SAMD9 | 4 | Feb 19, 2023 |
| SAMD9L | 1 | Dec 14, 2023 |
| SAMHD1 | 3 | Feb 19, 2023 |
| SARM1 | 1 | Feb 21, 2021 |
| SARS2 | 4 | Jun 4, 2024 |
| SATB1 | 4 | Jun 4, 2024 |
| SATB2 | 7 | Dec 14, 2023 |
| SBDS | 34 | Jun 5, 2024 |
| SBF1 | 6 | Mar 5, 2021 |
| SBF2 | 6 | Mar 5, 2021 |
| SBF2-AS1 | 4 | Feb 21, 2021 |
| SCAMP4 | 7 | Mar 5, 2021 |
| SCARB2 | 2 | Mar 5, 2021 |
| SCARF2 | 3 | Feb 21, 2021 |
| SCN10A | 3 | Feb 19, 2023 |
| SCN11A | 2 | Oct 2, 2023 |
| SCN1A | 30 | Jun 4, 2024 |
| SCN1A-AS1 | 16 | Oct 2, 2023 |
| SCN1B | 4 | Feb 19, 2023 |
| SCN2A | 17 | Jun 4, 2024 |
| SCN2B | 1 | Mar 5, 2021 |
| SCN3A | 12 | Jun 4, 2024 |
| SCN4A | 13 | Jun 4, 2024 |
| SCN5A | 9 | Oct 2, 2023 |
| SCN8A | 47 | Jun 4, 2024 |
| SCN9A | 20 | Oct 2, 2023 |
| SCNN1G | 3 | Mar 5, 2021 |
| SCO1 | 8 | Feb 19, 2023 |
| SCO2 | 38 | Jun 5, 2024 |
| SCP2 | 1 | Mar 5, 2021 |
| SCYL1 | 3 | Mar 5, 2021 |
| SDCCAG8 | 3 | Feb 21, 2021 |
| SDHA | 250 | Jun 5, 2024 |
| SDHAF1 | 2 | Mar 5, 2021 |
| SDHAF2 | 46 | Jun 5, 2024 |
| SDHB | 115 | Jun 5, 2024 |
| SDHC | 51 | Jun 5, 2024 |
| SDHD | 38 | Jun 5, 2024 |
| SEC23A | 1 | Mar 5, 2021 |
| SEC23B | 4 | Mar 5, 2021 |
| SEC24D | 1 | Mar 5, 2021 |
| SEC31A | 1 | Feb 21, 2021 |
| SECISBP2 | 2 | Oct 2, 2023 |
| SELENON | 4 | Feb 21, 2021 |
| SEMA3A | 1 | Apr 1, 2019 |
| SEMA3E | 4 | Mar 5, 2021 |
| SEMA4A | 1 | Feb 19, 2023 |
| SEPSECS | 4 | Feb 19, 2023 |
| SEPT5-GP1BB | 1 | Mar 5, 2021 |
| SERAC1 | 6 | Mar 12, 2023 |
| SERPINA1 | 36 | Jun 5, 2024 |
| SERPINA6 | 2 | Feb 21, 2021 |
| SERPINB6 | 1 | Mar 5, 2021 |
| SERPINC1 | 1 | Feb 21, 2021 |
| SERPINE1 | 1 | Mar 5, 2021 |
| SERPINF1 | 1 | Feb 19, 2023 |
| SERPING1 | 3 | Mar 5, 2021 |
| SET | 2 | Feb 21, 2021 |
| SETBP1 | 17 | Oct 2, 2023 |
| SETD1A | 3 | Jun 4, 2024 |
| SETD1B | 3 | Oct 2, 2023 |
| SETD2 | 17 | Jun 4, 2024 |
| SETD5 | 18 | Feb 19, 2023 |
| SETX | 9 | Oct 2, 2023 |
| SFTA3 | 3 | Feb 21, 2021 |
| SFTPB | 2 | Jun 4, 2024 |
| SFTPC | 2 | Oct 2, 2023 |
| SFXN4 | 3 | Mar 5, 2021 |
| SGCA | 74 | Jun 5, 2024 |
| SGCB | 48 | Jun 5, 2024 |
| SGCD | 14 | Jun 5, 2024 |
| SGCE | 5 | Jun 4, 2024 |
| SGCG | 47 | Jun 5, 2024 |
| SGPL1 | 5 | Oct 2, 2023 |
| SGSH | 93 | Jun 5, 2024 |
| SH2D1A | 1 | Jun 4, 2024 |
| SH3PXD2B | 1 | Feb 21, 2021 |
| SH3TC2 | 8 | Feb 19, 2023 |
| SHANK2 | 1 | Mar 5, 2021 |
| SHANK3 | 9 | Feb 19, 2023 |
| SHH | 3 | Jun 4, 2024 |
| SHMT2 | 2 | Jun 4, 2024 |
| SHOC2 | 7 | Feb 19, 2023 |
| SHOX | 4 | Mar 5, 2021 |
| SHQ1 | 1 | Oct 2, 2023 |
| SHROOM4 | 10 | Feb 19, 2023 |
| SI | 3 | Feb 19, 2023 |
| SIGMAR1 | 1 | Aug 17, 2015 |
| SIK1 | 4 | Feb 21, 2021 |
| SIL1 | 5 | Mar 5, 2021 |
| SIN3A | 7 | Jun 4, 2024 |
| SIPA1L3 | 1 | Mar 5, 2021 |
| SIX1 | 3 | Oct 2, 2023 |
| SKI | 6 | Mar 12, 2023 |
| SKIC2 | 1 | Oct 16, 2017 |
| SKIC3 | 10 | Jun 4, 2024 |
| SLC10A2 | 3 | Feb 21, 2021 |
| SLC12A1 | 8 | Jun 4, 2024 |
| SLC12A3 | 10 | Oct 2, 2023 |
| SLC12A5 | 11 | Jun 4, 2024 |
| SLC12A6 | 70 | Jun 5, 2024 |
| SLC13A3 | 2 | Feb 21, 2021 |
| SLC13A5 | 10 | Oct 2, 2023 |
| SLC16A2 | 4 | Feb 19, 2023 |
| SLC17A5 | 55 | Jun 5, 2024 |
| SLC17A9 | 1 | Mar 5, 2021 |
| SLC18A3 | 4 | Mar 5, 2021 |
| SLC19A1 | 2 | Mar 5, 2021 |
| SLC19A2 | 1 | Mar 5, 2021 |
| SLC19A3 | 5 | Feb 19, 2023 |
| SLC1A1 | 1 | Mar 5, 2021 |
| SLC1A2 | 2 | Mar 5, 2021 |
| SLC1A3 | 2 | Feb 19, 2023 |
| SLC1A4 | 1 | Mar 12, 2023 |
| SLC20A2 | 2 | Jun 4, 2024 |
| SLC22A12 | 1 | Feb 21, 2021 |
| SLC22A5 | 122 | Jun 5, 2024 |
| SLC25A1 | 5 | Mar 5, 2021 |
| SLC25A12 | 1 | Mar 5, 2021 |
| SLC25A13 | 108 | Jun 5, 2024 |
| SLC25A15 | 38 | Jun 5, 2024 |
| SLC25A19 | 4 | Oct 2, 2023 |
| SLC25A20 | 34 | Jun 5, 2024 |
| SLC25A22 | 2 | Feb 19, 2023 |
| SLC25A24 | 2 | Oct 2, 2023 |
| SLC25A38 | 1 | Oct 16, 2017 |
| SLC25A4 | 2 | Dec 14, 2023 |
| SLC25A42 | 1 | Feb 21, 2021 |
| SLC25A46 | 1 | Feb 21, 2021 |
| SLC26A1 | 4 | Feb 21, 2021 |
| SLC26A11 | 1 | Jun 5, 2024 |
| SLC26A2 | 95 | Jun 5, 2024 |
| SLC26A3 | 3 | Jun 4, 2024 |
| SLC26A4 | 221 | Jun 5, 2024 |
| SLC26A4-AS1 | 8 | Jun 5, 2024 |
| SLC26A5 | 1 | Mar 5, 2021 |
| SLC26A5-AS1 | 4 | Jun 4, 2024 |
| SLC29A3 | 2 | Feb 19, 2023 |
| SLC2A1 | 10 | Oct 2, 2023 |
| SLC2A10 | 3 | Mar 12, 2023 |
| SLC2A2 | 1 | Feb 21, 2021 |
| SLC2A9 | 1 | Nov 14, 2016 |
| SLC30A10 | 1 | Feb 19, 2023 |
| SLC30A2 | 1 | Mar 5, 2021 |
| SLC33A1 | 1 | Feb 21, 2021 |
| SLC34A1 | 2 | Feb 19, 2023 |
| SLC34A2 | 1 | Mar 5, 2021 |
| SLC34A3 | 1 | Feb 19, 2023 |
| SLC35A1 | 1 | Feb 21, 2021 |
| SLC35A2 | 4 | Oct 2, 2023 |
| SLC35A3 | 1 | Oct 7, 2022 |
| SLC35C1 | 6 | Mar 5, 2021 |
| SLC36A1 | 1 | Jun 4, 2024 |
| SLC37A4 | 80 | Jun 5, 2024 |
| SLC38A8 | 1 | Mar 5, 2021 |
| SLC39A4 | 1 | Feb 21, 2021 |
| SLC39A8 | 6 | Jun 4, 2024 |
| SLC3A1 | 1 | Oct 2, 2023 |
| SLC44A4 | 1 | Feb 21, 2021 |
| SLC45A1 | 9 | Mar 5, 2021 |
| SLC45A2 | 4 | Jun 5, 2024 |
| SLC46A1 | 2 | Feb 21, 2021 |
| SLC4A1 | 3 | Oct 2, 2023 |
| SLC4A11 | 2 | Jun 4, 2024 |
| SLC4A4 | 1 | Feb 21, 2021 |
| SLC51A | 1 | Feb 19, 2023 |
| SLC52A2 | 6 | Feb 19, 2023 |
| SLC5A1 | 5 | Feb 19, 2023 |
| SLC5A2 | 1 | Oct 2, 2023 |
| SLC5A5 | 1 | Mar 5, 2021 |
| SLC5A6 | 2 | Oct 2, 2023 |
| SLC5A7 | 2 | Feb 19, 2023 |
| SLC6A1 | 3 | Mar 5, 2021 |
| SLC6A1-AS1 | 1 | Nov 14, 2016 |
| SLC6A17 | 6 | Mar 5, 2021 |
| SLC6A17-AS1 | 2 | Mar 5, 2021 |
| SLC6A19 | 1 | Mar 5, 2021 |
| SLC6A4 | 1 | Feb 21, 2021 |
| SLC6A5 | 8 | Feb 19, 2023 |
| SLC6A8 | 6 | Jun 5, 2024 |
| SLC6A9 | 3 | Mar 5, 2021 |
| SLC7A7 | 61 | Jun 5, 2024 |
| SLC7A9 | 1 | Dec 14, 2023 |
| SLC9A1 | 1 | Feb 19, 2023 |
| SLC9A3 | 1 | Mar 5, 2021 |
| SLC9A3-AS1 | 1 | Mar 5, 2021 |
| SLC9A6 | 2 | Mar 5, 2021 |
| SLCO1B1 | 1 | Mar 5, 2021 |
| SLCO1B3 | 4 | Feb 19, 2023 |
| SLCO1B3-SLCO1B7 | 4 | Feb 19, 2023 |
| SLCO2A1 | 1 | Mar 5, 2021 |
| SLFN14 | 4 | Oct 2, 2023 |
| SLIT3 | 5 | Oct 2, 2023 |
| SLIT3-AS2 | 1 | Feb 19, 2023 |
| SLITRK1 | 1 | Feb 21, 2021 |
| SLITRK6 | 1 | Mar 5, 2021 |
| SLX4 | 48 | Jun 5, 2024 |
| SMAD2 | 1 | Jun 4, 2024 |
| SMAD3 | 2 | Oct 2, 2023 |
| SMAD4 | 70 | Jun 5, 2024 |
| SMAD6 | 8 | Oct 2, 2023 |
| SMAD9 | 1 | Feb 21, 2021 |
| SMARCA1 | 1 | Feb 19, 2023 |
| SMARCA2 | 23 | Oct 2, 2023 |
| SMARCA4 | 242 | Jun 5, 2024 |
| SMARCAL1 | 2 | Mar 5, 2021 |
| SMARCB1 | 38 | Jun 5, 2024 |
| SMARCC1 | 4 | Jul 1, 2021 |
| SMARCC2 | 10 | Feb 19, 2023 |
| SMARCE1 | 52 | Jun 5, 2024 |
| SMC1A | 22 | Oct 2, 2023 |
| SMC3 | 5 | Feb 21, 2021 |
| SMCHD1 | 2 | Oct 2, 2023 |
| SMG9 | 1 | Feb 21, 2021 |
| SMOC2 | 1 | Feb 21, 2021 |
| SMPD1 | 131 | Jun 5, 2024 |
| SMPD4 | 5 | Oct 2, 2023 |
| SMS | 2 | Oct 2, 2023 |
| SNAP29 | 1 | Feb 21, 2021 |
| SNHG14 | 125 | Jun 4, 2024 |
| SNIP1 | 1 | Mar 5, 2021 |
| SNTA1 | 1 | Feb 21, 2021 |
| SNX14 | 9 | Dec 6, 2021 |
| SOBP | 3 | Mar 5, 2021 |
| SOD1 | 2 | Feb 19, 2023 |
| SON | 33 | Jun 4, 2024 |
| SORD | 1 | Jun 4, 2024 |
| SOS1 | 18 | Jun 4, 2024 |
| SOS2 | 3 | Feb 19, 2023 |
| SOX10 | 5 | Jun 4, 2024 |
| SOX11 | 4 | Mar 5, 2021 |
| SOX2 | 1 | Dec 14, 2023 |
| SOX2-OT | 1 | Dec 14, 2023 |
| SOX3 | 4 | Oct 2, 2023 |
| SOX4 | 1 | Feb 21, 2021 |
| SOX5 | 9 | Jun 4, 2024 |
| SOX9 | 3 | Oct 2, 2023 |
| SP110 | 5 | Oct 2, 2023 |
| SP140 | 2 | Mar 5, 2021 |
| SPAG1 | 5 | Mar 5, 2021 |
| SPAG8 | 1 | Mar 5, 2021 |
| SPARC | 1 | Mar 5, 2021 |
| SPART | 2 | Feb 19, 2023 |
| SPAST | 5 | Jun 4, 2024 |
| SPATA22 | 62 | Jun 5, 2024 |
| SPATA6L | 1 | Mar 5, 2021 |
| SPATA7 | 1 | Mar 5, 2021 |
| SPECC1L | 1 | Mar 5, 2021 |
| SPECC1L-ADORA2A | 1 | Mar 5, 2021 |
| SPEG | 12 | Jun 4, 2024 |
| SPEN | 6 | Dec 14, 2023 |
| SPG11 | 20 | Dec 14, 2023 |
| SPG21 | 1 | Feb 21, 2021 |
| SPG7 | 7 | Mar 12, 2023 |
| SPICE1-CFAP44 | 1 | Feb 21, 2021 |
| SPINK1 | 5 | Jun 5, 2024 |
| SPINK2 | 1 | Feb 21, 2021 |
| SPINK5 | 4 | Mar 5, 2021 |
| SPINT2 | 1 | Feb 21, 2021 |
| SPOP | 1 | Feb 19, 2023 |
| SPOUT1 | 2 | Jun 17, 2024 |
| SPRED1 | 3 | Mar 5, 2021 |
| SPRY2 | 1 | Feb 21, 2021 |
| SPTA1 | 9 | Mar 5, 2021 |
| SPTAN1 | 9 | Oct 2, 2023 |
| SPTB | 10 | Oct 2, 2023 |
| SPTBN1 | 8 | Jun 4, 2024 |
| SPTBN1-AS2 | 2 | Oct 2, 2023 |
| SPTBN2 | 9 | Feb 19, 2023 |
| SPTBN4 | 4 | Feb 19, 2023 |
| SPTLC1 | 1 | Aug 17, 2015 |
| SQSTM1 | 4 | Jun 4, 2024 |
| SRCAP | 12 | Jun 4, 2024 |
| SRD5A2 | 2 | Jun 4, 2024 |
| SRD5A3 | 3 | Feb 21, 2021 |
| SREBF1 | 2 | Oct 2, 2023 |
| SRFBP1 | 1 | Oct 2, 2023 |
| SRP72 | 1 | Jun 5, 2024 |
| SRPK2 | 1 | Feb 21, 2021 |
| SRPX2 | 1 | Feb 19, 2023 |
| SSR4 | 2 | Feb 19, 2023 |
| ST3GAL3 | 4 | Mar 5, 2021 |
| ST3GAL5 | 7 | Feb 21, 2021 |
| STAG1 | 14 | Feb 19, 2023 |
| STAG2 | 11 | Oct 2, 2023 |
| STAMBP | 5 | Mar 5, 2021 |
| STAT1 | 8 | Jun 4, 2024 |
| STAT2 | 6 | Dec 14, 2023 |
| STAT3 | 4 | Oct 2, 2023 |
| STAT4 | 1 | Jun 4, 2024 |
| STAT5B | 1 | Feb 21, 2021 |
| STEEP1 | 2 | Feb 21, 2021 |
| STIL | 5 | Mar 5, 2021 |
| STIM1 | 3 | Oct 2, 2023 |
| STK11 | 99 | Jun 5, 2024 |
| STN1 | 1 | Feb 21, 2021 |
| STRA6 | 2 | Mar 5, 2021 |
| STRC | 3 | Feb 21, 2021 |
| STRN4 | 1 | Feb 21, 2021 |
| STS | 1 | Nov 14, 2016 |
| STT3A | 2 | Oct 2, 2023 |
| STUB1 | 2 | Jun 4, 2024 |
| STX11 | 14 | Jun 5, 2024 |
| STX16 | 1 | Apr 1, 2019 |
| STX1B | 4 | Jun 4, 2024 |
| STXBP1 | 7 | Jun 4, 2024 |
| STXBP2 | 46 | Jun 5, 2024 |
| STYXL1 | 1 | Feb 21, 2021 |
| SUCLA2 | 4 | Dec 14, 2023 |
| SUCLG1 | 6 | Feb 19, 2023 |
| SUFU | 78 | Jun 5, 2024 |
| SUMF1 | 5 | Mar 12, 2023 |
| SUOX | 1 | Feb 21, 2021 |
| SUPT16H | 1 | Jun 4, 2024 |
| SURF1 | 4 | Feb 19, 2023 |
| SVIL | 2 | Feb 19, 2023 |
| SYCE2 | 8 | Jun 5, 2024 |
| SYN1 | 6 | Feb 19, 2023 |
| SYNE1 | 52 | Jun 4, 2024 |
| SYNE1-AS1 | 2 | Mar 5, 2021 |
| SYNE2 | 12 | Jun 4, 2024 |
| SYNGAP1 | 24 | Feb 19, 2023 |
| SYNGAP1-AS1 | 19 | Feb 19, 2023 |
| SYNJ1 | 4 | Jun 4, 2024 |
| SYP | 1 | Feb 21, 2021 |
| SYT14 | 1 | Mar 5, 2021 |
| SYT2 | 1 | Feb 21, 2021 |
| SZT2 | 25 | Oct 2, 2023 |
| SZT2-AS1 | 2 | Mar 5, 2021 |
| TAB2 | 7 | Feb 19, 2023 |
| TACO1 | 2 | Mar 5, 2021 |
| TAF1 | 8 | Oct 2, 2023 |
| TAF13 | 1 | Feb 21, 2021 |
| TAF2 | 2 | Mar 5, 2021 |
| TAF6 | 4 | Mar 5, 2021 |
| TAFAZZIN | 2 | Oct 2, 2023 |
| TALDO1 | 7 | Mar 12, 2023 |
| TANC2 | 3 | Jun 4, 2024 |
| TANGO2 | 5 | Feb 21, 2021 |
| TAP1 | 2 | Oct 2, 2023 |
| TAP2 | 2 | Mar 5, 2021 |
| TAPBP | 2 | Mar 5, 2021 |
| TARDBP | 2 | Feb 19, 2023 |
| TARS2 | 5 | Mar 5, 2021 |
| TASP1 | 1 | Feb 19, 2023 |
| TAT | 26 | Jun 5, 2024 |
| TAT-AS1 | 19 | Jun 5, 2024 |
| TBC1D20 | 1 | Feb 21, 2021 |
| TBC1D23 | 4 | Mar 5, 2021 |
| TBC1D24 | 3 | Feb 21, 2021 |
| TBC1D7 | 1 | Mar 5, 2021 |
| TBC1D7-LOC100130357 | 1 | Mar 5, 2021 |
| TBCD | 24 | Oct 2, 2023 |
| TBCE | 4 | Mar 5, 2021 |
| TBCEL-TECTA | 8 | Feb 19, 2023 |
| TBCK | 13 | Mar 5, 2021 |
| TBK1 | 2 | Feb 21, 2021 |
| TBL1X | 1 | Jun 4, 2024 |
| TBL1XR1 | 4 | Feb 19, 2023 |
| TBL1XR1-AS1 | 2 | Feb 19, 2023 |
| TBP | 1 | Mar 5, 2021 |
| TBX1 | 9 | Oct 2, 2023 |
| TBX15 | 1 | Feb 21, 2021 |
| TBX18 | 1 | Feb 19, 2023 |
| TBX19 | 1 | Oct 16, 2017 |
| TBX2 | 4 | Jun 4, 2024 |
| TBX20 | 2 | Jun 4, 2024 |
| TBX3 | 3 | Feb 19, 2023 |
| TBX3-AS1 | 1 | Feb 21, 2021 |
| TBX5 | 6 | Oct 2, 2023 |
| TBX6 | 2 | Mar 5, 2021 |
| TBXAS1 | 2 | Mar 5, 2021 |
| TBXT | 1 | Feb 21, 2021 |
| TCAP | 1 | Feb 21, 2021 |
| TCF12 | 5 | Oct 2, 2023 |
| TCF20 | 6 | Oct 2, 2023 |
| TCF4 | 6 | Mar 5, 2021 |
| TCIRG1 | 113 | Jun 5, 2024 |
| TCN2 | 3 | Feb 19, 2023 |
| TCTN1 | 3 | Mar 5, 2021 |
| TCTN2 | 3 | Feb 21, 2021 |
| TCTN3 | 3 | Feb 19, 2023 |
| TDP1 | 3 | Mar 5, 2021 |
| TDP2 | 1 | Feb 21, 2021 |
| TDRD7 | 1 | Feb 21, 2021 |
| TDRD9 | 2 | Feb 21, 2021 |
| TECPR2 | 10 | Mar 5, 2021 |
| TECR | 2 | Mar 5, 2021 |
| TECRL | 2 | Feb 19, 2023 |
| TECTA | 8 | Feb 19, 2023 |
| TEK | 2 | Oct 2, 2023 |
| TELO2 | 6 | Feb 19, 2023 |
| TENM3 | 2 | Mar 5, 2021 |
| TENM4 | 4 | Oct 2, 2023 |
| TENT5A | 1 | Feb 21, 2021 |
| TERT | 120 | Jun 5, 2024 |
| TET2 | 5 | Oct 2, 2023 |
| TET2-AS1 | 5 | Oct 2, 2023 |
| TET3 | 2 | Feb 19, 2023 |
| TEX12 | 1 | Jun 5, 2024 |
| TEX14 | 1 | Feb 19, 2023 |
| TEX15 | 1 | Feb 21, 2021 |
| TEX9 | 1 | Oct 2, 2023 |
| TFAM | 1 | Feb 19, 2023 |
| TFAP2A | 2 | Mar 5, 2021 |
| TFAP2B | 3 | Feb 19, 2023 |
| TFG | 2 | Mar 5, 2021 |
| TFR2 | 70 | Jun 5, 2024 |
| TFRC | 5 | Mar 5, 2021 |
| TG | 13 | Jun 4, 2024 |
| TGFB1 | 2 | Jun 4, 2024 |
| TGFB2 | 4 | Feb 19, 2023 |
| TGFB3 | 3 | Oct 2, 2023 |
| TGFBR1 | 6 | Oct 2, 2023 |
| TGFBR2 | 5 | Jun 4, 2024 |
| TGIF1 | 2 | Dec 14, 2023 |
| TGM1 | 111 | Jun 5, 2024 |
| TGM5 | 1 | Mar 12, 2023 |
| TGM6 | 1 | Mar 5, 2021 |
| TH | 65 | Jun 5, 2024 |
| TH2-LCR | 29 | Jun 5, 2024 |
| TH2LCRR | 42 | Jun 5, 2024 |
| THBD | 1 | Feb 21, 2021 |
| THOC2 | 4 | Feb 19, 2023 |
| THOC6 | 10 | Jun 4, 2024 |
| THPO | 2 | Feb 19, 2023 |
| THRA | 1 | Mar 12, 2023 |
| TIA1 | 1 | Feb 21, 2021 |
| TIMM50 | 3 | Feb 19, 2023 |
| TIMM8A | 1 | Oct 2, 2023 |
| TIMMDC1 | 7 | Mar 5, 2021 |
| TINF2 | 3 | Dec 6, 2021 |
| TIRAP-AS1 | 1 | Feb 21, 2021 |
| TJP2 | 5 | Mar 5, 2021 |
| TK2 | 3 | Feb 21, 2021 |
| TKT | 4 | Feb 19, 2023 |
| TLK2 | 1 | Mar 14, 2019 |
| TM4SF20 | 1 | Apr 1, 2019 |
| TMC1 | 3 | Oct 2, 2023 |
| TMCO6 | 2 | Jun 4, 2024 |
| TMEM106B | 2 | Feb 21, 2021 |
| TMEM126B | 3 | Mar 5, 2021 |
| TMEM127 | 70 | Jun 5, 2024 |
| TMEM132E | 2 | Feb 21, 2021 |
| TMEM165 | 1 | Mar 5, 2021 |
| TMEM204 | 1 | Mar 5, 2021 |
| TMEM216 | 20 | Jun 5, 2024 |
| TMEM231 | 7 | Mar 12, 2023 |
| TMEM237 | 3 | Mar 12, 2023 |
| TMEM260 | 5 | Oct 2, 2023 |
| TMEM38B | 1 | Feb 21, 2021 |
| TMEM43 | 1 | Oct 2, 2023 |
| TMEM67 | 11 | Mar 12, 2023 |
| TMEM70 | 2 | Feb 19, 2023 |
| TMEM94 | 9 | Feb 19, 2023 |
| TMIE | 1 | Mar 5, 2021 |
| TMLHE | 1 | Oct 16, 2017 |
| TMPPE | 1 | Mar 5, 2021 |
| TMPRSS15 | 3 | Mar 5, 2021 |
| TMPRSS3 | 2 | Dec 14, 2023 |
| TMPRSS6 | 2 | Feb 21, 2021 |
| TMTC3 | 2 | Mar 5, 2021 |
| TMX2 | 1 | Feb 21, 2021 |
| TMX2-CTNND1 | 3 | Oct 2, 2023 |
| TNC | 6 | Jun 4, 2024 |
| TNFAIP3 | 2 | Mar 5, 2021 |
| TNFRSF11A | 4 | Mar 5, 2021 |
| TNFRSF11B | 1 | Oct 2, 2023 |
| TNFRSF13B | 12 | Jun 4, 2024 |
| TNIK | 3 | Mar 5, 2021 |
| TNNC1 | 3 | Feb 19, 2023 |
| TNNI2 | 2 | Feb 21, 2021 |
| TNNI3 | 5 | Feb 19, 2023 |
| TNNT1 | 2 | Feb 21, 2021 |
| TNNT2 | 2 | Oct 2, 2023 |
| TNNT3 | 4 | Jun 4, 2024 |
| TNPO3 | 3 | Feb 19, 2023 |
| TNRC6B | 5 | Dec 14, 2023 |
| TNXB | 13 | Jun 4, 2024 |
| TOE1 | 15 | Jun 5, 2024 |
| TOGARAM1 | 1 | Feb 19, 2023 |
| TOP2B | 2 | Feb 19, 2023 |
| TOP3A | 4 | Feb 19, 2023 |
| TOR1A | 3 | Jun 4, 2024 |
| TOR1AIP1 | 1 | Mar 5, 2021 |
| TP53 | 161 | Jun 5, 2024 |
| TP53BP1 | 1 | Feb 21, 2021 |
| TP53RK | 3 | Mar 5, 2021 |
| TPK1 | 3 | Feb 21, 2021 |
| TPM1 | 6 | Oct 2, 2023 |
| TPM2 | 1 | Feb 21, 2021 |
| TPM3 | 3 | Jun 4, 2024 |
| TPO | 4 | Feb 21, 2021 |
| TPP1 | 9 | Mar 5, 2021 |
| TRAF3 | 1 | Jun 4, 2024 |
| TRAF3IP1 | 3 | Oct 2, 2023 |
| TRAF3IP2 | 1 | Mar 5, 2021 |
| TRAF3IP2-AS1 | 1 | Mar 5, 2021 |
| TRAF7 | 3 | Jun 4, 2024 |
| TRAIP | 1 | Mar 5, 2021 |
| TRAK1 | 3 | Feb 19, 2023 |
| TRAP1 | 1 | Feb 19, 2023 |
| TRAPPC10 | 1 | Jun 4, 2024 |
| TRAPPC11 | 6 | Feb 19, 2023 |
| TRAPPC12 | 4 | Mar 5, 2021 |
| TRAPPC14 | 1 | Feb 21, 2021 |
| TRAPPC2L | 3 | Feb 19, 2023 |
| TRAPPC9 | 22 | Jun 4, 2024 |
| TRDN | 2 | Mar 12, 2023 |
| TREX1 | 8 | Jun 4, 2024 |
| TRIM2 | 1 | Feb 21, 2021 |
| TRIM32 | 4 | Mar 5, 2021 |
| TRIM37 | 57 | Jun 5, 2024 |
| TRIM54 | 1 | Jun 5, 2024 |
| TRIM8 | 1 | Dec 14, 2023 |
| TRIO | 25 | Jun 4, 2024 |
| TRIOBP | 6 | Mar 5, 2021 |
| TRIP11 | 3 | Mar 5, 2021 |
| TRIP12 | 9 | Oct 2, 2023 |
| TRIP13 | 1 | Mar 5, 2021 |
| TRIP4 | 1 | Feb 21, 2021 |
| TRIT1 | 5 | Jun 4, 2024 |
| TRMT1 | 7 | Oct 2, 2023 |
| TRMT10A | 2 | Feb 21, 2021 |
| TRMT5 | 2 | Mar 5, 2021 |
| TRMU | 76 | Jun 5, 2024 |
| TRNT1 | 2 | Feb 21, 2021 |
| TRPA1 | 1 | Mar 5, 2021 |
| TRPC6 | 4 | Mar 5, 2021 |
| TRPM3 | 1 | Jun 4, 2024 |
| TRPM6 | 3 | Mar 5, 2021 |
| TRPM7 | 1 | Feb 21, 2021 |
| TRPS1 | 2 | Feb 21, 2021 |
| TRPV4 | 4 | Jun 4, 2024 |
| TRPV6 | 2 | Feb 21, 2021 |
| TRRAP | 15 | Jun 4, 2024 |
| TSC1 | 142 | Sep 12, 2024 |
| TSC2 | 297 | Jun 7, 2024 |
| TSEN2 | 3 | Mar 12, 2023 |
| TSEN54 | 12 | Oct 2, 2023 |
| TSFM | 38 | Jun 5, 2024 |
| TSHR | 8 | Jun 5, 2024 |
| TSPAN1 | 85 | Jun 5, 2024 |
| TSPAN12 | 1 | Feb 21, 2021 |
| TSPEAR | 5 | Mar 5, 2021 |
| TSPEAR-AS1 | 1 | Feb 21, 2021 |
| TSPYL1 | 1 | Feb 21, 2021 |
| TTBK2 | 1 | Feb 21, 2021 |
| TTC19 | 5 | Feb 19, 2023 |
| TTC21B | 10 | Oct 2, 2023 |
| TTC21B-AS1 | 2 | Feb 21, 2021 |
| TTC7A | 6 | Mar 5, 2021 |
| TTC8 | 30 | Jun 5, 2024 |
| TTI2 | 5 | Mar 5, 2021 |
| TTN | 276 | Jun 4, 2024 |
| TTN-AS1 | 160 | Jun 4, 2024 |
| TTPA | 33 | Jun 5, 2024 |
| TTR | 1 | Jun 4, 2024 |
| TUBA1A | 12 | Jun 4, 2024 |
| TUBA4A | 1 | Feb 19, 2023 |
| TUBA8 | 4 | Mar 5, 2021 |
| TUBB | 8 | Jun 4, 2024 |
| TUBB1 | 2 | Mar 5, 2021 |
| TUBB2A | 4 | Feb 19, 2023 |
| TUBB2B | 3 | Jun 4, 2024 |
| TUBB3 | 6 | Oct 2, 2023 |
| TUBB4A | 7 | Oct 2, 2023 |
| TUBB4B | 1 | Feb 19, 2023 |
| TUBGCP4 | 2 | Feb 21, 2021 |
| TUBGCP6 | 11 | Mar 5, 2021 |
| TUFM | 3 | Mar 5, 2021 |
| TULP1 | 1 | Mar 5, 2021 |
| TUSC3 | 3 | Jun 4, 2024 |
| TWIST1 | 2 | Mar 5, 2021 |
| TWIST2 | 1 | Mar 5, 2021 |
| TWNK | 12 | Jun 4, 2024 |
| TXN2 | 1 | Feb 21, 2021 |
| TXNL4A | 1 | Feb 21, 2021 |
| TYK2 | 8 | Oct 2, 2023 |
| TYMP | 56 | Jun 5, 2024 |
| TYR | 114 | Jun 5, 2024 |
| UBA1 | 1 | Mar 5, 2021 |
| UBA2 | 1 | Jun 4, 2024 |
| UBA5 | 2 | Feb 21, 2021 |
| UBAP1 | 1 | Oct 2, 2023 |
| UBE2A | 1 | Apr 1, 2019 |
| UBE3A | 125 | Jun 4, 2024 |
| UBE3B | 5 | Mar 5, 2021 |
| UBN2 | 1 | Mar 14, 2019 |
| UBR1 | 4 | Feb 19, 2023 |
| UBR5 | 1 | Oct 2, 2023 |
| UBTF | 1 | Feb 21, 2021 |
| UCN | 1 | Jun 5, 2024 |
| UCP3 | 1 | Feb 21, 2021 |
| UFC1 | 2 | Mar 5, 2021 |
| UFM1 | 1 | Feb 21, 2021 |
| UFSP2 | 1 | Oct 2, 2023 |
| UGP2 | 1 | Oct 2, 2023 |
| UGT1A | 1 | Oct 7, 2022 |
| UGT1A1 | 1 | Oct 7, 2022 |
| UGT1A10 | 1 | Oct 7, 2022 |
| UGT1A3 | 1 | Oct 7, 2022 |
| UGT1A4 | 1 | Oct 7, 2022 |
| UGT1A5 | 1 | Oct 7, 2022 |
| UGT1A6 | 1 | Oct 7, 2022 |
| UGT1A7 | 1 | Oct 7, 2022 |
| UGT1A8 | 1 | Oct 7, 2022 |
| UGT1A9 | 1 | Oct 7, 2022 |
| UNC13D | 10 | Jun 4, 2024 |
| UNC45A | 1 | Feb 19, 2023 |
| UNC45B | 2 | Feb 19, 2023 |
| UNC80 | 35 | Oct 2, 2023 |
| UNG | 3 | Mar 5, 2021 |
| UPB1 | 5 | Jun 4, 2024 |
| UPF1 | 1 | Feb 19, 2023 |
| UPF3B | 1 | Feb 21, 2021 |
| UQCC2 | 1 | Mar 5, 2021 |
| UQCRC1 | 1 | Feb 19, 2023 |
| UQCRC2 | 3 | Mar 5, 2021 |
| UQCRQ | 2 | Mar 5, 2021 |
| UROC1 | 1 | Mar 5, 2021 |
| USB1 | 3 | Mar 5, 2021 |
| USH1C | 72 | Nov 4, 2024 |
| USH2A | 674 | Jun 5, 2024 |
| USH2A-AS1 | 47 | Jun 5, 2024 |
| USH2A-AS2 | 40 | Jun 5, 2024 |
| USP27X | 2 | Feb 21, 2021 |
| USP53 | 1 | Feb 19, 2023 |
| USP7 | 2 | Jun 4, 2024 |
| USP9X | 21 | Jun 4, 2024 |
| UTP14C | 1 | Feb 21, 2021 |
| VAC14 | 2 | Mar 5, 2021 |
| VAPB | 1 | Feb 19, 2023 |
| VARS1 | 20 | Oct 2, 2023 |
| VARS2 | 15 | Oct 2, 2023 |
| VCL | 2 | Mar 5, 2021 |
| VCP | 3 | Feb 19, 2023 |
| VHL | 94 | Sep 6, 2024 |
| VIPAS39 | 3 | Feb 21, 2021 |
| VLDLR | 6 | Mar 5, 2021 |
| VMA21 | 1 | Mar 5, 2021 |
| VPS11 | 8 | Feb 19, 2023 |
| VPS13A | 7 | Mar 5, 2021 |
| VPS13B | 27 | Oct 2, 2023 |
| VPS13C | 5 | Jun 4, 2024 |
| VPS13D | 14 | Dec 14, 2023 |
| VPS33A | 2 | Feb 21, 2021 |
| VPS33B | 3 | Feb 21, 2021 |
| VPS37A | 2 | Feb 19, 2023 |
| VPS45 | 3 | Feb 21, 2021 |
| VPS4A | 1 | Oct 2, 2023 |
| VPS53 | 5 | Mar 5, 2021 |
| VRK1 | 4 | Oct 7, 2022 |
| VRK2 | 8 | Jun 5, 2024 |
| VSX2 | 1 | Feb 21, 2021 |
| VWA1 | 2 | Jun 4, 2024 |
| VWA3B | 2 | Mar 5, 2021 |
| VWF | 11 | Oct 2, 2023 |
| WAC | 3 | Oct 2, 2023 |
| WAPL | 1 | Apr 8, 2018 |
| WARS2 | 9 | Feb 19, 2023 |
| WARS2-AS1 | 2 | Feb 19, 2023 |
| WAS | 2 | Feb 21, 2021 |
| WASHC4 | 5 | Mar 5, 2021 |
| WASHC5 | 4 | Feb 21, 2021 |
| WASHC5-AS1 | 2 | Feb 21, 2021 |
| WBP11 | 1 | Jun 4, 2024 |
| WBP2 | 1 | Feb 21, 2021 |
| WDFY3 | 8 | Feb 19, 2023 |
| WDPCP | 1 | Oct 16, 2017 |
| WDR19 | 4 | Oct 2, 2023 |
| WDR26 | 3 | Mar 5, 2021 |
| WDR35 | 8 | Oct 2, 2023 |
| WDR37 | 2 | Feb 19, 2023 |
| WDR4 | 2 | Dec 14, 2023 |
| WDR45 | 8 | Mar 12, 2023 |
| WDR62 | 14 | Oct 2, 2023 |
| WDR73 | 5 | Feb 19, 2023 |
| WDR81 | 18 | Feb 19, 2023 |
| WFS1 | 10 | Jun 4, 2024 |
| WHRN | 3 | Feb 19, 2023 |
| WIPF1 | 1 | Mar 5, 2021 |
| WIPI2 | 1 | Feb 21, 2021 |
| WNK1 | 8 | Mar 5, 2021 |
| WNT10B | 1 | Feb 21, 2021 |
| WNT4 | 1 | Feb 19, 2023 |
| WNT5A | 2 | Mar 5, 2021 |
| WRAP53 | 2 | Dec 7, 2023 |
| WRN | 148 | Jun 5, 2024 |
| WT1 | 94 | Jun 5, 2024 |
| WWOX | 18 | Jun 4, 2024 |
| XDH | 1 | Feb 21, 2021 |
| XIAP | 1 | Feb 21, 2021 |
| XPA | 38 | Jun 5, 2024 |
| XPC | 87 | Jun 5, 2024 |
| XPR1 | 1 | Jun 4, 2024 |
| XRCC1 | 1 | Mar 5, 2021 |
| XRCC2 | 2 | Feb 21, 2021 |
| XRCC4 | 1 | Oct 2, 2023 |
| XYLT1 | 2 | Jun 4, 2024 |
| XYLT2 | 1 | Feb 21, 2021 |
| YAP1 | 1 | Mar 5, 2021 |
| YARS1 | 3 | Jun 4, 2024 |
| YARS2 | 8 | Oct 2, 2023 |
| YME1L1 | 1 | Feb 21, 2021 |
| YWHAG | 2 | Feb 21, 2021 |
| YY1 | 5 | Feb 19, 2023 |
| YY1AP1 | 3 | Feb 19, 2023 |
| YY2 | 4 | Oct 2, 2023 |
| ZAP70 | 3 | Mar 5, 2021 |
| ZBTB11 | 3 | Feb 21, 2021 |
| ZBTB18 | 4 | Jun 4, 2024 |
| ZBTB20 | 5 | Feb 19, 2023 |
| ZBTB24 | 4 | Feb 19, 2023 |
| ZBTB42 | 1 | Mar 5, 2021 |
| ZBTB47 | 1 | Feb 23, 2023 |
| ZC3H14 | 5 | Dec 14, 2023 |
| ZC4H2 | 2 | Oct 2, 2023 |
| ZCCHC8 | 1 | Feb 21, 2021 |
| ZDHHC15 | 1 | Mar 5, 2021 |
| ZDHHC24 | 35 | Jun 5, 2024 |
| ZDHHC9 | 2 | Jun 4, 2024 |
| ZEB1 | 1 | Mar 5, 2021 |
| ZEB2 | 21 | Jun 4, 2024 |
| ZFPM2 | 3 | Feb 19, 2023 |
| ZFPM2-AS1 | 3 | Feb 19, 2023 |
| ZFYVE26 | 36 | Jun 5, 2024 |
| ZIC2 | 2 | Feb 19, 2023 |
| ZIC3 | 1 | Mar 5, 2021 |
| ZMIZ1 | 2 | Dec 14, 2023 |
| ZMPSTE24 | 4 | Feb 19, 2023 |
| ZMYND11 | 5 | Feb 19, 2023 |
| ZNF142 | 11 | Oct 2, 2023 |
| ZNF148 | 2 | Mar 5, 2021 |
| ZNF18 | 1 | Feb 21, 2021 |
| ZNF276 | 56 | Jun 5, 2024 |
| ZNF292 | 1 | Jun 4, 2024 |
| ZNF335 | 4 | Feb 21, 2021 |
| ZNF341 | 2 | Feb 21, 2021 |
| ZNF423 | 3 | Feb 21, 2021 |
| ZNF462 | 5 | Feb 19, 2023 |
| ZNF469 | 13 | Mar 5, 2021 |
| ZNF627 | 2 | Mar 5, 2021 |
| ZNF644 | 1 | Mar 5, 2021 |
| ZNF711 | 4 | Jun 4, 2024 |
| ZNHIT3 | 1 | Mar 5, 2021 |
| ZSWIM6 | 3 | Mar 5, 2021 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 1 test |
| 3-Methylglutaconic aciduria type 2 | 7 tests |
| 3-Methylglutaconic aciduria type 3 | 7 tests |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 4 tests |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 11 tests |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 9 tests |
| 3-methylglutaconic aciduria type 1 | 8 tests |
| 3-methylglutaconic aciduria type 5 | 4 tests |
| 46,XX sex reversal 1 | 1 test |
| 46,XY sex reversal 1 | 1 test |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 5 tests |
| AICA-ribosiduria | 1 test |
| ALG1-congenital disorder of glycosylation | 5 tests |
| ALG11-congenital disorder of glycosylation | 3 tests |
| ALG12-congenital disorder of glycosylation | 5 tests |
| ALG2-congenital disorder of glycosylation | 2 tests |
| ALG3-congenital disorder of glycosylation | 5 tests |
| ALG6-congenital disorder of glycosylation 1C | 5 tests |
| ALG8 congenital disorder of glycosylation | 4 tests |
| ALG9 congenital disorder of glycosylation | 5 tests |
| Abnormal chromosome morphology | 1 test |
| Acatalasia | 1 test |
| Acetyl-CoA acetyltransferase-2 deficiency | 1 test |
| Acetyl-CoA: carboxylase deficiency | 6 tests |
| Achondrogenesis type II | 6 tests |
| Achondrogenesis, type IB | 3 tests |
| Achondroplasia | 2 tests |
| Achromatopsia 2 | 1 test |
| Achromatopsia 3 | 1 test |
| Achromatopsia 4 | 1 test |
| Acne inversa, familial, 3 | 1 test |
| Acrocephalosyndactyly type I | 1 test |
| Acrodysostosis 1 with or without hormone resistance | 2 tests |
| Acromicric dysplasia | 5 tests |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 6 tests |
| Acute lymphoid leukemia | 8 tests |
| Acute myeloid leukemia | 22 tests |
| Acute promyelocytic leukemia | 1 test |
| Acyl-CoA dehydrogenase 9 deficiency | 7 tests |
| Acyl-CoA oxidase deficiency | 4 tests |
| Adenine phosphoribosyltransferase deficiency | 3 tests |
| Adenylosuccinate lyase deficiency | 8 tests |
| Adrenocortical carcinoma, hereditary | 17 tests |
| Adrenoleukodystrophy | 6 tests |
| Adult hypophosphatasia | 7 tests |
| Adult-onset foveomacular vitelliform dystrophy | 9 tests |
| Age related macular degeneration 10 | 1 test |
| Age related macular degeneration 2 | 7 tests |
| Agenesis of the corpus callosum with peripheral neuropathy | 3 tests |
| Alagille syndrome due to a JAG1 point mutation | 3 tests |
| Aland island eye disease | 1 test |
| Alcohol sensitivity, acute | 1 test |
| Alkaptonuria | 1 test |
| Alpha-1-antitrypsin deficiency | 3 tests |
| Alpha-methylacyl-CoA racemase deficiency | 4 tests |
| Alstrom syndrome | 1 test |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 7 tests |
| Alzheimer disease | 2 tests |
| Alzheimer disease 3 | 1 test |
| Aminoglycoside-induced deafness | 5 tests |
| Amish lethal microcephaly | 1 test |
| Amyotrophic lateral sclerosis type 1 | 1 test |
| Amyotrophic lateral sclerosis type 12 | 3 tests |
| Amyotrophic lateral sclerosis type 20 | 3 tests |
| Amyotrophic neuralgia | 3 tests |
| Anauxetic dysplasia 1 | 4 tests |
| Androgen resistance syndrome | 4 tests |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 3 tests |
| Angelman syndrome | 17 tests |
| Anhaptoglobinemia | 1 test |
| Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | 2 tests |
| Aniridia 1 | 1 test |
| Anomaly of sex chromosome | 1 test |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 test |
| Anterior segment dysgenesis 1 | 1 test |
| Anterior segment dysgenesis 3 | 1 test |
| Anterior segment dysgenesis 4 | 1 test |
| Aplastic anemia | 5 tests |
| Arginase deficiency | 8 tests |
| Arginine:glycine amidinotransferase deficiency | 9 tests |
| Argininosuccinate lyase deficiency | 6 tests |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 test |
| Arrhythmogenic right ventricular dysplasia 8 | 1 test |
| Arteriohepatic dysplasia | 4 tests |
| Aspartate aminotransferase, serum level of, quantitative trait locus 1 | 1 test |
| Aspartylglucosaminuria | 4 tests |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 4 tests |
| Ataxia-telangiectasia syndrome | 10 tests |
| Ataxia-telangiectasia-like disorder | 3 tests |
| Ataxia-telangiectasia-like disorder 1 | 3 tests |
| Atrophia bulborum hereditaria | 4 tests |
| Autism | 2 tests |
| Autism, susceptibility to, X-linked 3 | 7 tests |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 test |
| Autoimmune lymphoproliferative syndrome type 2B | 1 test |
| Autoimmune lymphoproliferative syndrome type 4 | 3 tests |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 5 tests |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 11 | 4 tests |
| Autosomal dominant nonsyndromic hearing loss 3A | 5 tests |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 64 | 1 test |
| Autosomal dominant optic atrophy classic form | 5 tests |
| Autosomal dominant osteopetrosis 1 | 1 test |
| Autosomal dominant osteopetrosis 2 | 5 tests |
| Autosomal dominant vitreoretinochoroidopathy | 5 tests |
| Autosomal recessive DOPA responsive dystonia | 3 tests |
| Autosomal recessive ataxia due to ubiquinone deficiency | 6 tests |
| Autosomal recessive bestrophinopathy | 5 tests |
| Autosomal recessive congenital ichthyosis 1 | 3 tests |
| Autosomal recessive congenital ichthyosis 4A | 1 test |
| Autosomal recessive congenital ichthyosis 4B | 1 test |
| Autosomal recessive cutis laxa type 1 | 1 test |
| Autosomal recessive cutis laxa type 2B | 1 test |
| Autosomal recessive early-onset Parkinson disease 6 | 1 test |
| Autosomal recessive early-onset Parkinson disease 7 | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 test |
| Autosomal recessive nonsyndromic hearing loss 12 | 4 tests |
| Autosomal recessive nonsyndromic hearing loss 18A | 5 tests |
| Autosomal recessive nonsyndromic hearing loss 1A | 7 tests |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 23 | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 31 | 6 tests |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 97 | 2 tests |
| Autosomal recessive optic atrophy, OPA7 type | 1 test |
| Autosomal recessive osteopetrosis 1 | 6 tests |
| Autosomal recessive osteopetrosis 2 | 1 test |
| Autosomal recessive osteopetrosis 4 | 4 tests |
| Autosomal recessive osteopetrosis 5 | 1 test |
| Autosomal recessive osteopetrosis 7 | 2 tests |
| Autosomal recessive polycystic kidney disease | 3 tests |
| Avascular necrosis of femoral head, primary, 1 | 6 tests |
| Avellino corneal dystrophy | 1 test |
| Axenfeld-Rieger syndrome type 1 | 4 tests |
| Axenfeld-Rieger syndrome type 3 | 1 test |
| B-cell chronic lymphocytic leukemia | 1 test |
| B4GALT1-congenital disorder of glycosylation | 5 tests |
| Bannayan-Riley-Ruvalcaba syndrome | 7 tests |
| Bardet-Biedl syndrome | 2 tests |
| Bardet-Biedl syndrome 1 | 8 tests |
| Bardet-Biedl syndrome 10 | 4 tests |
| Bardet-Biedl syndrome 12 | 3 tests |
| Bardet-Biedl syndrome 14 | 5 tests |
| Bardet-Biedl syndrome 15 | 3 tests |
| Bardet-Biedl syndrome 2 | 3 tests |
| Bardet-Biedl syndrome 3 | 3 tests |
| Bardet-Biedl syndrome 4 | 3 tests |
| Bardet-Biedl syndrome 5 | 3 tests |
| Bardet-Biedl syndrome 7 | 3 tests |
| Bardet-Biedl syndrome 9 | 3 tests |
| Basal cell carcinoma, susceptibility to, 1 | 3 tests |
| Basal cell carcinoma, susceptibility to, 7 | 12 tests |
| Becker muscular dystrophy | 4 tests |
| Beckwith-Wiedemann syndrome | 5 tests |
| Benign recurrent intrahepatic cholestasis type 1 | 5 tests |
| Benign recurrent intrahepatic cholestasis type 2 | 6 tests |
| Beta-D-mannosidosis | 1 test |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 1 test |
| Bietti crystalline corneoretinal dystrophy | 1 test |
| Bifunctional peroxisomal enzyme deficiency | 5 tests |
| Biotinidase deficiency | 10 tests |
| Birt-Hogg-Dube syndrome | 5 tests |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 test |
| Bloom syndrome | 5 tests |
| Body mass index quantitative trait locus 12 | 2 tests |
| Body mass index quantitative trait locus 4 | 1 test |
| Bone fragility with contractures, arterial rupture, and deafness | 1 test |
| Bone marrow transplant | 1 test |
| Bone mineral density quantitative trait locus 1 | 1 test |
| Bone osteosarcoma | 17 tests |
| Bothnia retinal dystrophy | 6 tests |
| Bradyopsia | 1 test |
| Branchiootic syndrome 1 | 1 test |
| Branchiootorenal syndrome 1 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 10 tests |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 11 tests |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 4 tests |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 4 tests |
| Bronchiectasis with or without elevated sweat chloride 1 | 6 tests |
| Bruck syndrome 2 | 2 tests |
| Brunner syndrome | 1 test |
| Budd-Chiari syndrome | 2 tests |
| Burkitt lymphoma | 1 test |
| CBL-related disorder | 5 tests |
| CHARGE syndrome | 7 tests |
| COACH syndrome | 1 test |
| COACH syndrome 1 | 2 tests |
| COG1 congenital disorder of glycosylation | 5 tests |
| COG4-congenital disorder of glycosylation | 1 test |
| COG5-congenital disorder of glycosylation | 3 tests |
| COG6-congenital disorder of glycosylation | 1 test |
| COG7 congenital disorder of glycosylation | 5 tests |
| COG8-congenital disorder of glycosylation | 5 tests |
| Camptodactyly, tall stature, and hearing loss syndrome (CATSHL syndrome) | 1 test |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 test |
| Carcinoid tumor of intestine | 4 tests |
| Carcinoma of colon | 13 tests |
| Carcinoma of pancreas | 17 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 6 tests |
| Cardiofaciocutaneous syndrome 1 | 4 tests |
| Cardiofaciocutaneous syndrome 3 | 1 test |
| Cardiofaciocutaneous syndrome 4 | 1 test |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 1 test |
| Carney complex, type 1 | 5 tests |
| Carney-Stratakis syndrome | 5 tests |
| Carnitine acylcarnitine translocase deficiency | 8 tests |
| Carnitine palmitoyl transferase 1A deficiency | 10 tests |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 7 tests |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 7 tests |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 9 tests |
| Carotid intimal medial thickness 1 | 1 test |
| Cataract 11 multiple types | 4 tests |
| Cataract 14 multiple types | 1 test |
| Cataract 16 multiple types | 1 test |
| Cataract 18 | 1 test |
| Cataract 40 | 1 test |
| Cerebral amyloid angiopathy, APP-related | 1 test |
| Ceroid lipofuscinosis, neuronal, 6A | 3 tests |
| Cervical cancer | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 test |
| Charcot-Marie-Tooth disease recessive intermediate B | 6 tests |
| Charcot-Marie-Tooth disease recessive intermediate D | 3 tests |
| Charcot-Marie-Tooth disease type 1B | 1 test |
| Charcot-Marie-Tooth disease type 2A1 | 1 test |
| Charcot-Marie-Tooth disease type 2A2 | 3 tests |
| Charcot-Marie-Tooth disease type 2D | 1 test |
| Charcot-Marie-Tooth disease type 2I | 1 test |
| Charcot-Marie-Tooth disease type 2J | 1 test |
| Charcot-Marie-Tooth disease type 4K | 1 test |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 test |
| Charcot-Marie-Tooth disease, type IA | 1 test |
| Charlevoix-Saguenay spastic ataxia | 3 tests |
| Childhood hypophosphatasia | 5 tests |
| Childhood onset GLUT1 deficiency syndrome 2 | 3 tests |
| Cholestanol storage disease | 4 tests |
| Cholestasis, intrahepatic, of pregnancy, 1 | 1 test |
| Cholestasis, intrahepatic, of pregnancy, 3 | 4 tests |
| Chondrocalcinosis 2 | 1 test |
| Choroid plexus papilloma | 17 tests |
| Choroidal dystrophy, central areolar 2 | 6 tests |
| Choroideremia | 1 test |
| Christianson syndrome | 1 test |
| Chromosome 8, partial trisomy | 1 test |
| Chromosome Xp11.22 duplication syndrome | 6 tests |
| Chronic myelogenous leukemia, BCR-ABL1 positive | 4 tests |
| Chuvash polycythemia | 13 tests |
| Citrullinemia type I | 7 tests |
| Citrullinemia type II | 8 tests |
| Classic homocystinuria | 9 tests |
| Classical phenylketonuria | 1 test |
| Cleidocranial dysostosis | 3 tests |
| Cobalamin C disease | 10 tests |
| Coenzyme Q10 deficiency, primary, 1 | 6 tests |
| Coenzyme Q10 deficiency, primary, 3 | 6 tests |
| Coloboma of optic nerve | 2 tests |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 1 test |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 6 tests |
| Combined PSAP deficiency | 1 test |
| Combined deficiency of sialidase AND beta galactosidase | 2 tests |
| Combined immunodeficiency, X-linked | 3 tests |
| Combined malonic and methylmalonic acidemia | 6 tests |
| Combined molybdoflavoprotein enzyme deficiency | 9 tests |
| Combined oxidative phosphorylation defect type 14 | 5 tests |
| Combined oxidative phosphorylation defect type 15 | 2 tests |
| Combined oxidative phosphorylation defect type 2 | 1 test |
| Combined oxidative phosphorylation defect type 24 | 5 tests |
| Combined oxidative phosphorylation defect type 25 | 4 tests |
| Combined oxidative phosphorylation defect type 4 | 1 test |
| Combined oxidative phosphorylation defect type 7 | 5 tests |
| Combined oxidative phosphorylation defect type 8 | 6 tests |
| Combined oxidative phosphorylation defect type 9 | 4 tests |
| Combined oxidative phosphorylation deficiency 22 | 4 tests |
| Combined oxidative phosphorylation deficiency 35 | 3 tests |
| Combined oxidative phosphorylation deficiency 39 | 2 tests |
| Complex cortical dysplasia with other brain malformations 1 | 1 test |
| Conduction disorder of the heart | 1 test |
| Cone dystrophy 3 | 1 test |
| Cone dystrophy 4 | 1 test |
| Cone dystrophy with supernormal rod response | 1 test |
| Cone monochromatism | 1 test |
| Cone-rod dystrophy 1 | 3 tests |
| Cone-rod dystrophy 10 | 1 test |
| Cone-rod dystrophy 12 | 6 tests |
| Cone-rod dystrophy 13 | 7 tests |
| Cone-rod dystrophy 15 | 6 tests |
| Cone-rod dystrophy 16 | 1 test |
| Cone-rod dystrophy 2 | 7 tests |
| Cone-rod dystrophy 3 | 7 tests |
| Cone-rod dystrophy 5 | 1 test |
| Cone-rod dystrophy 6 | 6 tests |
| Cone-rod dystrophy 7 | 1 test |
| Cone-rod dystrophy 9 | 1 test |
| Cone-rod synaptic disorder, congenital nonprogressive | 7 tests |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 test |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 test |
| Congenital amegakaryocytic thrombocytopenia | 1 test |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 6 tests |
| Congenital bile acid synthesis defect 2 | 3 tests |
| Congenital bile acid synthesis defect 4 | 1 test |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 4 tests |
| Congenital central hypoventilation | 7 tests |
| Congenital chromosomal disease | 2 tests |
| Congenital diarrhea 5 with tufting enteropathy | 4 tests |
| Congenital disorder of deglycosylation | 3 tests |
| Congenital disorder of glycosylation type 1E | 2 tests |
| Congenital disorder of glycosylation type Ir | 4 tests |
| Congenital fibrosis of extraocular muscles type 1 | 1 test |
| Congenital generalized lipodystrophy type 4 | 1 test |
| Congenital hyperammonemia, type I | 7 tests |
| Congenital hypomyelinating neuropathy | 1 test |
| Congenital hypothyroidism | 3 tests |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 test |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 7 tests |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 1 test |
| Congenital muscular hypertrophy-cerebral syndrome | 1 test |
| Congenital myasthenic syndrome 10 | 1 test |
| Congenital myasthenic syndrome 11 | 1 test |
| Congenital myasthenic syndrome 13 | 1 test |
| Congenital myasthenic syndrome 4A | 1 test |
| Congenital prothrombin deficiency | 2 tests |
| Congenital stationary night blindness 1A | 1 test |
| Congenital stationary night blindness 1B | 1 test |
| Congenital stationary night blindness 1C | 1 test |
| Congenital stationary night blindness 1D | 1 test |
| Congenital stationary night blindness 2A | 1 test |
| Congenital stationary night blindness autosomal dominant 1 | 1 test |
| Congenital stationary night blindness autosomal dominant 2 | 5 tests |
| Congenital stationary night blindness autosomal dominant 3 | 1 test |
| Corneal dystrophy, Fuchs endothelial, 6 | 1 test |
| Corneal dystrophy, lattice type 3A | 1 test |
| Cornelia de Lange syndrome 1 | 1 test |
| Cornelia de Lange syndrome 3 | 1 test |
| Cornelia de Lange syndrome 4 | 1 test |
| Cornelia de Lange syndrome 5 | 1 test |
| Coronary artery disease, autosomal dominant, 1 | 2 tests |
| Corpus callosum agenesis-abnormal genitalia syndrome | 6 tests |
| Corticosterone 18-monooxygenase deficiency | 1 test |
| Corticosterone methyloxidase type 2 deficiency | 1 test |
| Costello syndrome | 4 tests |
| Cowden syndrome | 1 test |
| Cowden syndrome 1 | 14 tests |
| Craniodiaphyseal dysplasia, autosomal dominant | 1 test |
| Craniofacial anomalies and anterior segment dysgenesis syndrome | 1 test |
| Craniometaphyseal dysplasia, autosomal dominant | 1 test |
| Creatine transporter deficiency | 6 tests |
| Crigler-Najjar syndrome type 1 | 3 tests |
| Crouzon syndrome | 1 test |
| Crouzon syndrome-acanthosis nigricans syndrome | 2 tests |
| Cutis laxa with osteodystrophy | 2 tests |
| Cutis laxa, X-linked | 5 tests |
| Cutis laxa, autosomal dominant 1 | 1 test |
| Cutis laxa, autosomal dominant 2 | 1 test |
| Cystic fibrosis | 12 tests |
| Cystinuria | 1 test |
| Cytochrome-c oxidase deficiency | 1 test |
| D-2-hydroxyglutaric aciduria 1 | 1 test |
| D-2-hydroxyglutaric aciduria 2 | 1 test |
| D-Glyceric aciduria | 1 test |
| DK1-congenital disorder of glycosylation | 5 tests |
| DPAGT1-congenital disorder of glycosylation | 1 test |
| DPM3-congenital disorder of glycosylation | 2 tests |
| Deafness dystonia syndrome | 6 tests |
| Deafness, congenital heart defects, and posterior embryotoxon | 4 tests |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 1 test |
| Deafness-lymphedema-leukemia syndrome | 4 tests |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 8 tests |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 2 tests |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 7 tests |
| Deficiency of acetyl-CoA acetyltransferase | 8 tests |
| Deficiency of alpha-mannosidase | 4 tests |
| Deficiency of butyryl-CoA dehydrogenase | 8 tests |
| Deficiency of cytochrome-b5 reductase | 1 test |
| Deficiency of galactokinase | 6 tests |
| Deficiency of guanidinoacetate methyltransferase | 9 tests |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 9 tests |
| Deficiency of isobutyryl-CoA dehydrogenase | 6 tests |
| Deficiency of malonyl-CoA decarboxylase | 1 test |
| Deficiency of phosphoserine phosphatase | 1 test |
| Deficiency of steroid 11-beta-monooxygenase | 4 tests |
| Deficiency of steroid 17-alpha-monooxygenase | 6 tests |
| Dejerine-Sottas disease | 1 test |
| Dent disease type 2 | 4 tests |
| Dermatofibrosis lenticularis disseminata | 6 tests |
| Desmoid disease, hereditary | 6 tests |
| Deuteranomaly | 1 test |
| Developmental and epileptic encephalopathy, 1 | 6 tests |
| Developmental and epileptic encephalopathy, 2 | 7 tests |
| Developmental and epileptic encephalopathy, 39 | 1 test |
| Developmental and epileptic encephalopathy, 4 | 4 tests |
| Developmental and epileptic encephalopathy, 9 | 3 tests |
| DiGeorge syndrome | 5 tests |
| Diabetes mellitus type 1 | 1 test |
| Diamond-Blackfan anemia | 7 tests |
| Diamond-Blackfan anemia 5 | 1 test |
| Diaphyseal dysplasia | 6 tests |
| Dihydropteridine reductase deficiency | 2 tests |
| Dihydropyrimidine dehydrogenase deficiency | 3 tests |
| Dilated cardiomyopathy 1GG | 6 tests |
| Dilated cardiomyopathy 1J | 1 test |
| Dilated cardiomyopathy 1U | 1 test |
| Dilated cardiomyopathy 1X | 1 test |
| Dilated cardiomyopathy 3B | 4 tests |
| Dimethylglycine dehydrogenase deficiency | 1 test |
| Dominant beta-thalassemia | 2 tests |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 test |
| Doyne honeycomb retinal dystrophy | 1 test |
| Drash syndrome | 3 tests |
| Duchenne muscular dystrophy | 6 tests |
| Dystonia 16 | 1 test |
| Early myoclonic encephalopathy | 1 test |
| Ectodermal dysplasia and immunodeficiency 1 | 2 tests |
| Ectopia lentis 1, isolated, autosomal dominant | 5 tests |
| Ehlers-Danlos syndrome progeroid type | 6 tests |
| Ehlers-Danlos syndrome type 7A | 1 test |
| Ehlers-Danlos syndrome type 7B | 1 test |
| Ehlers-Danlos syndrome, arthrochalasia type | 7 tests |
| Ehlers-Danlos syndrome, cardiac valvular type | 7 tests |
| Ehlers-Danlos syndrome, classic type | 10 tests |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 3 tests |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 7 tests |
| Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 1 test |
| Ehlers-Danlos syndrome, type 3 | 5 tests |
| Ehlers-Danlos syndrome, type 4 | 7 tests |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 test |
| Encephalopathy due to GLUT1 deficiency | 3 tests |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 6 tests |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 4 tests |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 1 test |
| Endometrial carcinoma | 16 tests |
| Enhanced S-cone syndrome | 2 tests |
| Epidermal nevus | 1 test |
| Epidermolysis bullosa simplex 1A, generalized severe | 1 test |
| Epidermolysis bullosa simplex 1C, localized | 1 test |
| Epidermolysis bullosa simplex with migratory circinate erythema | 1 test |
| Epidermolysis bullosa simplex with mottled pigmentation | 1 test |
| Epidermolysis bullosa simplex, Koebner type | 1 test |
| Epithelial basement membrane dystrophy | 1 test |
| Epsilon-trimethyllysine hydroxylase deficiency | 6 tests |
| Ethylmalonic encephalopathy | 7 tests |
| Exercise-induced hyperinsulinism | 3 tests |
| Exudative vitreoretinopathy 1 | 4 tests |
| Exudative vitreoretinopathy 2, X-linked | 1 test |
| Exudative vitreoretinopathy 4 | 4 tests |
| Exudative vitreoretinopathy 5 | 4 tests |
| Fabry disease | 6 tests |
| Factor V deficiency | 2 tests |
| Familial Mediterranean fever | 1 test |
| Familial adenomatous polyposis 1 | 12 tests |
| Familial adenomatous polyposis 2 | 7 tests |
| Familial aplasia of the vermis | 1 test |
| Familial atrial myxoma | 2 tests |
| Familial cancer of breast | 36 tests |
| Familial colorectal cancer | 5 tests |
| Familial dysautonomia | 4 tests |
| Familial expansile osteolysis | 2 tests |
| Familial gestational hyperthyroidism | 2 tests |
| Familial hemophagocytic lymphohistiocytosis 2 | 2 tests |
| Familial hypercholesterolemia | 7 tests |
| Familial hyperthyroidism due to mutations in TSH receptor | 2 tests |
| Familial infantile myasthenia | 2 tests |
| Familial isolated deficiency of vitamin E | 3 tests |
| Familial medullary thyroid carcinoma | 4 tests |
| Familial meningioma | 9 tests |
| Familial porphyria cutanea tarda | 1 test |
| Familial prostate cancer | 1 test |
| Familial spontaneous pneumothorax | 2 tests |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 test |
| Fanconi anemia complementation group C | 3 tests |
| Fanconi anemia complementation group D1 | 10 tests |
| Fanconi anemia complementation group N | 8 tests |
| Fanconi anemia complementation group O | 1 test |
| Fanconi renotubular syndrome 2 | 7 tests |
| Fasting plasma glucose level quantitative trait locus 5 | 1 test |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 6 tests |
| Febrile seizures, familial, 4 | 4 tests |
| Fetal hemoglobin quantitative trait locus 1 | 2 tests |
| Fibromatosis, gingival, 1 | 3 tests |
| Fibrosis of extraocular muscles, congenital, 2 | 1 test |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 test |
| Finnish congenital nephrotic syndrome | 3 tests |
| Finnish type amyloidosis | 1 test |
| Focal dermal hypoplasia | 3 tests |
| Follicular lymphoma, susceptibility to, 1 | 2 tests |
| Fragile X syndrome | 5 tests |
| Fragile X-associated tremor/ataxia syndrome | 3 tests |
| Frasier syndrome | 3 tests |
| Friedreich ataxia 1 | 4 tests |
| Frontotemporal dementia | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 test |
| Fructose-biphosphatase deficiency | 7 tests |
| Fumarase deficiency | 1 test |
| GM1 gangliosidosis type 2 | 1 test |
| GM1 gangliosidosis type 3 | 1 test |
| GNE myopathy | 8 tests |
| GRACILE syndrome | 5 tests |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 test |
| Galactosylceramide beta-galactosidase deficiency | 5 tests |
| Gamma-aminobutyric acid transaminase deficiency | 1 test |
| Gastric lymphoma | 2 tests |
| Gastrointestinal stromal tumor | 5 tests |
| Gaucher disease due to saposin C deficiency | 1 test |
| Gaucher disease type I | 3 tests |
| Geleophysic dysplasia 2 | 5 tests |
| Generalized juvenile polyposis/juvenile polyposis coli | 9 tests |
| Glaucoma 1, open angle, A | 4 tests |
| Glaucoma 3A | 5 tests |
| Glaucoma, normal tension, susceptibility to | 5 tests |
| Glioma susceptibility 1 | 14 tests |
| Glioma susceptibility 2 | 7 tests |
| Glioma susceptibility 3 | 10 tests |
| Glucocorticoid-remediable aldosteronism | 4 tests |
| Glucose-6-phosphate transport defect | 7 tests |
| Glutaric aciduria, type 1 | 9 tests |
| Glutaryl-CoA oxidase deficiency | 6 tests |
| Gluthathione peroxidase deficiency | 1 test |
| Glycine N-methyltransferase deficiency | 3 tests |
| Glycogen storage disease IIIa | 3 tests |
| Glycogen storage disease IIIb | 3 tests |
| Glycogen storage disease IXa1 | 6 tests |
| Glycogen storage disease IXb | 6 tests |
| Glycogen storage disease IXc | 6 tests |
| Glycogen storage disease IXd | 6 tests |
| Glycogen storage disease XV | 3 tests |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 7 tests |
| Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | 1 test |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 4 tests |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 6 tests |
| Glycogen storage disease due to muscle beta-enolase deficiency | 6 tests |
| Glycogen storage disease type III | 4 tests |
| Glycogen storage disease type X | 6 tests |
| Glycogen storage disease, type II | 7 tests |
| Glycogen storage disease, type IV | 6 tests |
| Glycogen storage disease, type V | 6 tests |
| Glycogen storage disease, type VI | 6 tests |
| Glycogen storage disease, type VII | 6 tests |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 7 tests |
| Gorlin syndrome | 6 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 1 test |
| Groenouw corneal dystrophy type I | 1 test |
| HNSHA due to aldolase A deficiency | 1 test |
| HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE | 4 tests |
| HSD10 mitochondrial disease | 6 tests |
| Hawkinsinuria | 4 tests |
| Hb SS disease | 2 tests |
| Heimler syndrome 1 | 1 test |
| Heimler syndrome 2 | 1 test |
| Heinz body anemia | 2 tests |
| Helicoid peripapillary chorioretinal degeneration | 1 test |
| Hematologic neoplasm | 1 test |
| Hemochromatosis type 1 | 4 tests |
| Hemochromatosis type 2A | 3 tests |
| Hemochromatosis type 2B | 3 tests |
| Hemochromatosis type 3 | 3 tests |
| Hemochromatosis type 4 | 3 tests |
| Hemolytic anemia due to adenylate kinase deficiency | 1 test |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 1 test |
| Hemolytic anemia due to hexokinase deficiency | 1 test |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 test |
| Hepatic adenomas, familial | 1 test |
| Hepatic methionine adenosyltransferase deficiency | 1 test |
| Hepatocellular carcinoma | 19 tests |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 8 tests |
| Hereditary coproporphyria | 1 test |
| Hereditary diffuse gastric adenocarcinoma | 8 tests |
| Hereditary disease | 176 tests |
| Hereditary fructosuria | 8 tests |
| Hereditary hemorrhagic telangiectasia | 2 tests |
| Hereditary intrinsic factor deficiency | 6 tests |
| Hereditary leiomyomatosis and renal cell cancer | 5 tests |
| Hereditary liability to pressure palsies | 1 test |
| Hereditary motor and sensory neuropathy with optic atrophy | 2 tests |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | 6 tests |
| Hereditary pancreatitis | 6 tests |
| Hereditary spastic paraplegia 13 | 1 test |
| Hereditary spastic paraplegia 2 | 5 tests |
| Hereditary spastic paraplegia 31 | 1 test |
| Hereditary spastic paraplegia 44 | 3 tests |
| Hereditary spastic paraplegia 55 | 1 test |
| Hereditary spastic paraplegia 7 | 4 tests |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 4 tests |
| Hereditary xanthinuria type 1 | 3 tests |
| Hermansky-Pudlak syndrome 1 | 4 tests |
| Hermansky-Pudlak syndrome 2 | 1 test |
| Hermansky-Pudlak syndrome 3 | 5 tests |
| Hermansky-Pudlak syndrome 4 | 4 tests |
| Hermansky-Pudlak syndrome 5 | 4 tests |
| Hermansky-Pudlak syndrome 6 | 4 tests |
| Hermansky-Pudlak syndrome 7 | 4 tests |
| Hermansky-Pudlak syndrome 8 | 4 tests |
| Hidrotic ectodermal dysplasia syndrome | 1 test |
| Hirschsprung disease, susceptibility to, 1 | 4 tests |
| Holocarboxylase synthetase deficiency | 8 tests |
| Holoprosencephaly 3 | 1 test |
| Holoprosencephaly 7 | 3 tests |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 8 tests |
| Huntington disease | 2 tests |
| Hurler syndrome | 4 tests |
| Hurthle cell carcinoma of thyroid | 5 tests |
| Hydroxyacyl glutathione hydrolase deficiency | 1 test |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 test |
| Hyper-IgM syndrome type 5 | 1 test |
| Hyperammonemia, type III | 7 tests |
| Hypercalcemia, infantile, 1 | 1 test |
| Hyperinsulinemic hypoglycemia, familial, 4 | 1 test |
| Hyperinsulinism due to glucokinase deficiency | 1 test |
| Hyperinsulinism-hyperammonemia syndrome | 4 tests |
| Hyperlipoproteinemia type IV | 1 test |
| Hyperlysinemia | 1 test |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 3 tests |
| Hyperornithinemia | 1 test |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 8 tests |
| Hyperparathyroidism 1 | 3 tests |
| Hyperparathyroidism 2 with jaw tumors | 4 tests |
| Hyperphosphatasemia tarda | 1 test |
| Hyperphosphatasemia with bone disease | 2 tests |
| Hyperprolinemia type 2 | 6 tests |
| Hypertrophic cardiomyopathy 1 | 7 tests |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 1 test |
| Hypochondroplasia | 2 tests |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 6 tests |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 6 tests |
| Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | 2 tests |
| Hypomyelinating leukodystrophy 2 | 3 tests |
| Hypomyelinating leukodystrophy 4 | 1 test |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 6 tests |
| Hypophosphatemic nephrolithiasis/osteoporosis 2 | 2 tests |
| Hypopigmentation, organomegaly, and delayed myelination and development | 1 test |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 test |
| Hypospadias 1, X-linked | 4 tests |
| Hypothyroidism due to TSH receptor mutations | 2 tests |
| Hypotonia with lactic acidemia and hyperammonemia | 6 tests |
| IMAGe syndrome | 2 tests |
| Ichthyosis, hystrix-like, with hearing loss | 5 tests |
| Idiopathic generalized epilepsy | 1 test |
| Idiopathic hypereosinophilic syndrome | 1 test |
| Imerslund-Grasbeck syndrome | 1 test |
| Iminoglycinuria | 1 test |
| Immunodeficiency 18 | 1 test |
| Immunodeficiency 23 | 3 tests |
| Immunodeficiency 27A | 1 test |
| Immunodeficiency 31B | 1 test |
| Immunodeficiency 33 | 2 tests |
| Immunodeficiency 83, susceptibility to viral infections | 1 test |
| Inborn glycerol kinase deficiency | 2 tests |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 test |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 3 tests |
| Incontinentia pigmenti syndrome | 5 tests |
| Increased analgesia from kappa-opioid receptor agonist, female-specific | 1 test |
| Infantile GM1 gangliosidosis | 1 test |
| Infantile cerebellar-retinal degeneration | 1 test |
| Infantile cortical hyperostosis | 3 tests |
| Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 4 tests |
| Infantile hypophosphatasia | 5 tests |
| Infantile nephronophthisis | 3 tests |
| Infantile onset spinocerebellar ataxia | 8 tests |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 2 tests |
| Intellectual disability, X-linked 63 | 1 test |
| Intellectual disability, X-linked, with or without seizures, arx-related | 6 tests |
| Intellectual disability, autosomal dominant 5 | 1 test |
| Intellectual disability, autosomal recessive 7 | 5 tests |
| Iodotyrosine deiodination defect | 3 tests |
| Irido-corneo-trabecular dysgenesis | 1 test |
| Ischemic stroke | 8 tests |
| Isolated microphthalmia 3 | 1 test |
| Isolated microphthalmia 5 | 6 tests |
| Isolated optic nerve hypoplasia | 1 test |
| Isovaleryl-CoA dehydrogenase deficiency | 9 tests |
| Jackson-Weiss syndrome | 1 test |
| Joubert syndrome 2 | 3 tests |
| Joubert syndrome 32 | 1 test |
| Joubert syndrome 5 | 6 tests |
| Joubert syndrome 6 | 1 test |
| Joubert syndrome 9 | 1 test |
| Joubert syndrome with renal defect | 2 tests |
| Junctional epidermolysis bullosa gravis of Herlitz | 2 tests |
| Junctional epidermolysis bullosa, non-Herlitz type | 7 tests |
| Juvenile myelomonocytic leukemia | 6 tests |
| Juvenile nephropathic cystinosis | 1 test |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 5 tests |
| Juvenile retinoschisis | 4 tests |
| Kahrizi syndrome | 4 tests |
| Kennedy disease | 4 tests |
| Keratoconus 1 | 4 tests |
| Keratosis palmoplantaris striata 2 | 1 test |
| Kniest dysplasia | 6 tests |
| Knuckle pads, deafness AND leukonychia syndrome | 5 tests |
| Kostmann syndrome | 1 test |
| Krabbe disease due to saposin A deficiency | 1 test |
| Kugelberg-Welander disease | 1 test |
| L-2-hydroxyglutaric aciduria | 1 test |
| LEOPARD syndrome 1 | 6 tests |
| LEOPARD syndrome 2 | 5 tests |
| LEOPARD syndrome 3 | 3 tests |
| Langer-Giedion syndrome | 1 test |
| Langereis blood group | 1 test |
| Late-onset retinal degeneration | 1 test |
| Lattice corneal dystrophy Type I | 1 test |
| Leber congenital amaurosis 1 | 6 tests |
| Leber congenital amaurosis 10 | 6 tests |
| Leber congenital amaurosis 11 | 7 tests |
| Leber congenital amaurosis 12 | 2 tests |
| Leber congenital amaurosis 13 | 7 tests |
| Leber congenital amaurosis 14 | 7 tests |
| Leber congenital amaurosis 15 | 1 test |
| Leber congenital amaurosis 16 | 2 tests |
| Leber congenital amaurosis 2 | 7 tests |
| Leber congenital amaurosis 3 | 2 tests |
| Leber congenital amaurosis 4 | 2 tests |
| Leber congenital amaurosis 5 | 7 tests |
| Leber congenital amaurosis 6 | 6 tests |
| Leber congenital amaurosis 7 | 6 tests |
| Leber congenital amaurosis 8 | 6 tests |
| Leber congenital amaurosis 9 | 1 test |
| Legg-Calve-Perthes disease | 6 tests |
| Leigh syndrome | 49 tests |
| Leprechaunism syndrome | 1 test |
| Lesch-Nyhan syndrome | 6 tests |
| Lethal acantholytic epidermolysis bullosa | 1 test |
| Lethal osteosclerotic bone dysplasia | 6 tests |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 5 tests |
| Leukemia, chronic lymphocytic, susceptibility to, 1 | 1 test |
| Leukocyte adhesion deficiency type II | 5 tests |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 6 tests |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 3 tests |
| Levy-Hollister syndrome | 1 test |
| Lewy body dementia | 1 test |
| Li-Fraumeni syndrome 1 | 17 tests |
| Li-Fraumeni syndrome 2 | 3 tests |
| Linear skin defects with multiple congenital anomalies 1 | 1 test |
| Lipoic acid synthetase deficiency | 1 test |
| Lissencephaly type 3 | 1 test |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 13 tests |
| Low phospholipid associated cholelithiasis | 5 tests |
| Lowe syndrome | 4 tests |
| Lung carcinoma | 12 tests |
| Lymphatic malformation 3 | 3 tests |
| Lynch syndrome 1 | 25 tests |
| Lynch syndrome 4 | 6 tests |
| Lynch syndrome 5 | 6 tests |
| Lynch syndrome 8 | 5 tests |
| Lysinuric protein intolerance | 4 tests |
| Lysosomal acid lipase deficiency | 4 tests |
| MASS syndrome | 5 tests |
| MGAT2-congenital disorder of glycosylation | 2 tests |
| MHC class I deficiency | 1 test |
| MOGS-congenital disorder of glycosylation | 4 tests |
| MORM syndrome | 1 test |
| MPDU1-congenital disorder of glycosylation | 5 tests |
| MPI-congenital disorder of glycosylation | 8 tests |
| Macrocephaly-autism syndrome | 13 tests |
| Macroglobulinemia, Waldenstrom, 1 | 1 test |
| Macular degeneration, X-linked atrophic | 4 tests |
| Macular degeneration, age-related, 3 | 1 test |
| Malignant tumor of breast | 1 test |
| Malignant tumor of esophagus | 2 tests |
| Malignant tumor of prostate | 18 tests |
| Malignant tumor of testis | 7 tests |
| Malignant tumor of urinary bladder | 5 tests |
| Maple syrup urine disease | 8 tests |
| Maple syrup urine disease type 1A | 4 tests |
| Maple syrup urine disease type 1B | 4 tests |
| Maple syrup urine disease type 2 | 4 tests |
| Marfan syndrome | 7 tests |
| Mastocytosis | 1 test |
| Matthew-Wood syndrome | 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 6 | 1 test |
| McKusick-Kaufman syndrome | 3 tests |
| Meacham syndrome | 3 tests |
| Meckel syndrome, type 1 | 3 tests |
| Meckel syndrome, type 3 | 1 test |
| Meckel syndrome, type 4 | 6 tests |
| Meckel syndrome, type 6 | 1 test |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 10 tests |
| Medulloblastoma | 14 tests |
| Meesmann corneal dystrophy | 1 test |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 3 tests |
| Melanoma and neural system tumor syndrome | 4 tests |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 14 tests |
| Melanoma, cutaneous malignant, susceptibility to, 2 | 5 tests |
| Melanoma, cutaneous malignant, susceptibility to, 3 | 7 tests |
| Melanoma, cutaneous malignant, susceptibility to, 5 | 1 test |
| Melanoma-pancreatic cancer syndrome | 6 tests |
| Melorheostosis | 5 tests |
| Menkes kinky-hair syndrome | 6 tests |
| Mesothelioma, malignant | 3 tests |
| Metabolic myopathy due to lactate transporter defect | 2 tests |
| Metachondromatosis | 5 tests |
| Metachromatic leukodystrophy | 4 tests |
| Metaphyseal chondrodysplasia, McKusick type | 3 tests |
| Metaphyseal chondrodysplasia, Schmid type | 3 tests |
| Metaphyseal dysplasia without hypotrichosis | 3 tests |
| Methemoglobinemia type 4 | 1 test |
| Methylcobalamin deficiency type cblE | 8 tests |
| Methylcobalamin deficiency type cblG | 8 tests |
| Methylmalonate semialdehyde dehydrogenase deficiency | 1 test |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 6 tests |
| Methylmalonic acidemia due to transcobalamin receptor defect | 5 tests |
| Methylmalonic acidemia with homocystinuria, type cblX | 3 tests |
| Methylmalonic aciduria and homocystinuria type cblD | 9 tests |
| Methylmalonic aciduria and homocystinuria type cblF | 9 tests |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 15 tests |
| Methylmalonic aciduria, cblA type | 11 tests |
| Methylmalonic aciduria, cblB type | 11 tests |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 2 tests |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 3 tests |
| Microcephaly, normal intelligence and immunodeficiency | 8 tests |
| Microphthalmia, isolated, with coloboma 5 | 1 test |
| Microphthalmia, isolated, with coloboma 7 | 1 test |
| Microvascular complications of diabetes, susceptibility to, 6 | 1 test |
| Microvascular complications of diabetes, susceptibility to, 7 | 1 test |
| Miller syndrome | 1 test |
| Mismatch repair cancer syndrome 1 | 6 tests |
| Mitochondrial DNA depletion syndrome 1 | 8 tests |
| Mitochondrial DNA depletion syndrome 11 | 2 tests |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 1 test |
| Mitochondrial DNA depletion syndrome 13 | 3 tests |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 7 tests |
| Mitochondrial DNA depletion syndrome 4b | 7 tests |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 6 tests |
| Mitochondrial DNA depletion syndrome 8a | 8 tests |
| Mitochondrial DNA depletion syndrome 9 | 11 tests |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 7 tests |
| Mitochondrial DNA depletion syndrome, myopathic form | 7 tests |
| Mitochondrial complex 1 deficiency, nuclear type 10 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 11 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 12 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 14 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 18 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 2 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 27 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 32 | 3 tests |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 1 test |
| Mitochondrial complex 1 deficiency, nuclear type 7 | 3 tests |
| Mitochondrial complex 1 deficiency, nuclear type 8 | 2 tests |
| Mitochondrial complex 1 deficiency, nuclear type 9 | 2 tests |
| Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 | 1 test |
| Mitochondrial complex I deficiency | 43 tests |
| Mitochondrial complex I deficiency, nuclear type 1 | 2 tests |
| Mitochondrial complex II deficiency, nuclear type 1 | 12 tests |
| Mitochondrial complex III deficiency nuclear type 1 | 9 tests |
| Mitochondrial complex III deficiency nuclear type 2 | 1 test |
| Mitochondrial complex III deficiency nuclear type 5 | 3 tests |
| Mitochondrial complex IV deficiency, nuclear type 1 | 15 tests |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 6 tests |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 | 6 tests |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 5 tests |
| Mitochondrial disease | 2 tests |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 4 tests |
| Mitochondrial trifunctional protein deficiency | 17 tests |
| Monocytopenia with susceptibility to infections | 2 tests |
| Mucolipidosis type II | 1 test |
| Mucolipidosis type IV | 3 tests |
| Mucopolysaccharidosis type 7 | 1 test |
| Mucopolysaccharidosis, MPS-I-H/S | 3 tests |
| Mucopolysaccharidosis, MPS-I-S | 3 tests |
| Mucopolysaccharidosis, MPS-II | 9 tests |
| Mucopolysaccharidosis, MPS-III-A | 4 tests |
| Mucopolysaccharidosis, MPS-III-B | 1 test |
| Mucopolysaccharidosis, MPS-III-C | 1 test |
| Mucopolysaccharidosis, MPS-III-D | 1 test |
| Mucopolysaccharidosis, MPS-IV-A | 4 tests |
| Mucopolysaccharidosis, MPS-IV-B | 1 test |
| Muenke syndrome | 2 tests |
| Muir-Torré syndrome | 6 tests |
| Multiple acyl-CoA dehydrogenase deficiency | 22 tests |
| Multiple endocrine neoplasia type 2A | 7 tests |
| Multiple endocrine neoplasia type 2B | 4 tests |
| Multiple endocrine neoplasia, type 1 | 7 tests |
| Multiple epiphyseal dysplasia, Beighton type | 6 tests |
| Multiple mitochondrial dysfunctions syndrome 1 | 1 test |
| Multiple mitochondrial dysfunctions syndrome 2 | 1 test |
| Multiple myeloma | 3 tests |
| Muscle eye brain disease | 1 test |
| Mutilating keratoderma | 5 tests |
| Myelodysplastic syndrome | 6 tests |
| Myelodysplastic syndrome associated with isolated del(5q) | 1 test |
| Myhre syndrome | 4 tests |
| Myofibrillar myopathy 2 | 1 test |
| Myoglobinuria, acute recurrent, autosomal recessive | 7 tests |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 6 tests |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 6 tests |
| NPHP3-related Meckel-like syndrome | 1 test |
| Nail-patella syndrome | 7 tests |
| Namaqualand hip dysplasia | 6 tests |
| Nance-Horan syndrome | 1 test |
| Nanophthalmos 2 | 5 tests |
| Nasopharyngeal carcinoma | 17 tests |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 6 tests |
| Neoplasm of stomach | 9 tests |
| Nephronophthisis 1 | 3 tests |
| Nephronophthisis 11 | 2 tests |
| Nephronophthisis 3 | 4 tests |
| Nephronophthisis 4 | 4 tests |
| Nephronophthisis-like nephropathy 1 | 1 test |
| Nephropathic cystinosis | 4 tests |
| Nephrotic syndrome, type 2 | 3 tests |
| Nephrotic syndrome, type 4 | 3 tests |
| Neural tube defects, folate-sensitive | 13 tests |
| Neuroblastoma, susceptibility to | 1 test |
| Neuroblastoma, susceptibility to, 2 | 5 tests |
| Neuroblastoma, susceptibility to, 3 | 7 tests |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 test |
| Neurofibromatosis, type 1 | 1 test |
| Neurofibromatosis, type 2 | 6 tests |
| Neuronal ceroid lipofuscinosis 1 | 3 tests |
| Neuronal ceroid lipofuscinosis 10 | 1 test |
| Neuronal ceroid lipofuscinosis 2 | 4 tests |
| Neuronal ceroid lipofuscinosis 3 | 4 tests |
| Neuronal ceroid lipofuscinosis 5 | 3 tests |
| Neuronal ceroid lipofuscinosis 8 | 1 test |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 2 tests |
| Neuronopathy, distal hereditary motor, type 5 | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 1C | 1 test |
| Neurophysiologic defect in schizophrenia | 5 tests |
| Neutral 1 amino acid transport defect | 1 test |
| Neutral lipid storage myopathy | 1 test |
| Newfoundland cone-rod dystrophy | 5 tests |
| Niemann-Pick disease, type A | 4 tests |
| Niemann-Pick disease, type B | 1 test |
| Niemann-Pick disease, type C1 | 4 tests |
| Niemann-Pick disease, type C2 | 3 tests |
| Nijmegen breakage syndrome-like disorder | 5 tests |
| Non-Hodgkin lymphoma | 5 tests |
| Non-ketotic hyperglycinemia | 8 tests |
| Nonpapillary renal cell carcinoma | 13 tests |
| Noonan syndrome 1 | 7 tests |
| Noonan syndrome 3 | 1 test |
| Noonan syndrome 4 | 4 tests |
| Noonan syndrome 5 | 5 tests |
| Noonan syndrome 6 | 4 tests |
| Noonan syndrome 7 | 3 tests |
| Noonan syndrome 8 | 4 tests |
| Noonan syndrome 9 | 1 test |
| Noonan syndrome-like disorder with loose anagen hair | 4 tests |
| Nystagmus 1, congenital, X-linked | 1 test |
| Nystagmus 6, congenital, X-linked | 7 tests |
| Obesity | 3 tests |
| Obesity due to congenital leptin deficiency | 2 tests |
| Obesity due to leptin receptor gene deficiency | 2 tests |
| Obesity due to pro-opiomelanocortin deficiency | 2 tests |
| Obesity due to prohormone convertase I deficiency | 2 tests |
| Occult macular dystrophy | 1 test |
| Ocular albinism with congenital sensorineural hearing loss | 4 tests |
| Ocular albinism, type I | 6 tests |
| Ocular cystinosis | 1 test |
| Oculocutaneous albinism type 1 | 4 tests |
| Oculocutaneous albinism type 1B | 4 tests |
| Oculocutaneous albinism type 3 | 4 tests |
| Oculocutaneous albinism type 4 | 4 tests |
| Oculofaciocardiodental syndrome | 1 test |
| Odontohypophosphatasia | 4 tests |
| Oguchi disease | 4 tests |
| Oguchi disease-1 | 1 test |
| Oguchi disease-2 | 1 test |
| Opioid dependence, susceptibility to, 1 | 1 test |
| Optic atrophy 3 | 7 tests |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 6 tests |
| Ornithine aminotransferase deficiency | 3 tests |
| Ornithine carbamoyltransferase deficiency | 7 tests |
| Orthostatic hypotension 1 | 1 test |
| Osteofibrous dysplasia | 2 tests |
| Osteogenesis imperfecta type 11 | 6 tests |
| Osteogenesis imperfecta type 12 | 2 tests |
| Osteogenesis imperfecta type 2, thin-bone | 1 test |
| Osteogenesis imperfecta type 5 | 4 tests |
| Osteogenesis imperfecta type 6 | 2 tests |
| Osteogenesis imperfecta type 7 | 8 tests |
| Osteogenesis imperfecta type 8 | 2 tests |
| Osteogenesis imperfecta type 9 | 2 tests |
| Osteogenesis imperfecta type I | 7 tests |
| Osteogenesis imperfecta type III | 6 tests |
| Osteogenesis imperfecta with normal sclerae, dominant form | 6 tests |
| Osteogenesis imperfecta, perinatal lethal | 5 tests |
| Osteogenesis imperfecta, recessive perinatal lethal | 1 test |
| Osteogenesis imperfecta, type III/IV | 1 test |
| Osteopathia striata with cranial sclerosis | 6 tests |
| Osteopetrosis with renal tubular acidosis | 6 tests |
| Osteoporosis with pseudoglioma | 1 test |
| Osteosarcoma | 1 test |
| Otofaciocervical syndrome 1 | 1 test |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 6 tests |
| Ovarian neoplasm | 4 tests |
| Oxoglutaricaciduria | 1 test |
| PGM1-congenital disorder of glycosylation | 6 tests |
| PHARC syndrome | 6 tests |
| PHGDH deficiency | 1 test |
| PMM2-congenital disorder of glycosylation | 8 tests |
| PPARG-related familial partial lipodystrophy | 1 test |
| PYCR1-related de Barsy syndrome | 1 test |
| Paget disease of bone 2, early-onset | 2 tests |
| Palmoplantar keratoderma-deafness syndrome | 5 tests |
| Pancreatic cancer, susceptibility to, 2 | 10 tests |
| Pancreatic cancer, susceptibility to, 3 | 8 tests |
| Pancreatic cancer, susceptibility to, 4 | 9 tests |
| Pancreatic insufficiency-anemia-hyperostosis syndrome | 1 test |
| Panic disorder 1 | 1 test |
| Papillary renal cell carcinoma type 1 | 5 tests |
| Papillary thyroid carcinoma | 1 test |
| Paragangliomas 1 | 4 tests |
| Paragangliomas 2 | 5 tests |
| Paragangliomas 3 | 7 tests |
| Paragangliomas 4 | 8 tests |
| Paragangliomas 5 | 7 tests |
| Parathyroid carcinoma | 2 tests |
| Parkinson disease 13, autosomal dominant, susceptibility to | 1 test |
| Paroxysmal nonkinesigenic dyskinesia | 1 test |
| Partial androgen insensitivity syndrome | 4 tests |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 4 tests |
| Partington syndrome | 6 tests |
| Patterned macular dystrophy 1 | 5 tests |
| Pelizaeus-Merzbacher disease | 6 tests |
| Pendred syndrome | 4 tests |
| Permanent neonatal diabetes mellitus | 1 test |
| Peroxisome biogenesis disorder 10A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 11A (Zellweger) | 5 tests |
| Peroxisome biogenesis disorder 12A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 13A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 14B | 3 tests |
| Peroxisome biogenesis disorder 1A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 2A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 3A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 4A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 5B | 2 tests |
| Peroxisome biogenesis disorder 6A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 7A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 8A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 8B | 2 tests |
| Peroxisome biogenesis disorder 9B | 4 tests |
| Peroxisome biogenesis disorder type 3B | 1 test |
| Perrault syndrome 1 | 1 test |
| Perrault syndrome 2 | 5 tests |
| Persistent fetal circulation syndrome | 1 test |
| Peutz-Jeghers syndrome | 9 tests |
| Pfeiffer syndrome | 1 test |
| Phenylketonuria | 8 tests |
| Pheochromocytoma | 22 tests |
| Phosphate transport defect | 5 tests |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 3 tests |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 4 tests |
| Phytanic acid storage disease | 4 tests |
| Pick disease | 1 test |
| Pigmentary pallidal degeneration | 1 test |
| Pigmentary retinal dystrophy | 9 tests |
| Pigmented nodular adrenocortical disease, primary, 1 | 2 tests |
| Pigmented paravenous retinochoroidal atrophy | 6 tests |
| Pili torti-deafness syndrome | 5 tests |
| Pilomatrixoma | 7 tests |
| Pituitary hormone deficiency, combined, 2 | 3 tests |
| Pituitary hormone deficiency, combined, 6 | 2 tests |
| Platyspondylic dysplasia, Torrance type | 6 tests |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 1 test |
| Polycystic liver disease 3 with or without kidney cysts | 1 test |
| Polyglandular autoimmune syndrome, type 1 | 3 tests |
| Polyposis syndrome, hereditary mixed, 2 | 4 tests |
| Pontocerebellar hypoplasia type 6 | 6 tests |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 test |
| Posterior polymorphous corneal dystrophy 1 | 1 test |
| Posterior polymorphous corneal dystrophy 3 | 1 test |
| Postmenopausal osteoporosis | 8 tests |
| Prader-Willi syndrome | 1 test |
| Pregnancy loss, recurrent, susceptibility to, 1 | 2 tests |
| Pregnancy loss, recurrent, susceptibility to, 2 | 2 tests |
| Premature ovarian failure 1 | 3 tests |
| Premature ovarian failure 3 | 1 test |
| Primary ciliary dyskinesia 14 | 1 test |
| Primary hyperoxaluria, type I | 4 tests |
| Primary hyperoxaluria, type II | 3 tests |
| Primary open angle glaucoma | 2 tests |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 7 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 7 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 7 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 8 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 7 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 8 tests |
| Progressive familial intrahepatic cholestasis | 5 tests |
| Progressive familial intrahepatic cholestasis type 1 | 1 test |
| Progressive familial intrahepatic cholestasis type 2 | 5 tests |
| Progressive familial intrahepatic cholestasis type 3 | 6 tests |
| Progressive sclerosing poliodystrophy | 8 tests |
| Proline dehydrogenase deficiency | 1 test |
| Propionic acidemia | 19 tests |
| Protan defect | 1 test |
| Protoporphyria, erythropoietic, 1 | 1 test |
| Pseudo-Hurler polydystrophy | 1 test |
| Purine-nucleoside phosphorylase deficiency | 4 tests |
| Pyknodysostosis | 7 tests |
| Pyridoxine-dependent epilepsy | 5 tests |
| Pyruvate carboxylase deficiency | 9 tests |
| Pyruvate dehydrogenase E1-alpha deficiency | 5 tests |
| Pyruvate dehydrogenase E1-beta deficiency | 6 tests |
| Pyruvate dehydrogenase E2 deficiency | 7 tests |
| Pyruvate dehydrogenase E3 deficiency | 5 tests |
| Pyruvate dehydrogenase E3-binding protein deficiency | 6 tests |
| Pyruvate dehydrogenase complex deficiency | 6 tests |
| Pyruvate dehydrogenase phosphatase deficiency | 7 tests |
| RFT1-congenital disorder of glycosylation | 2 tests |
| Reis-Bucklers' corneal dystrophy | 1 test |
| Renal carnitine transport defect | 8 tests |
| Renal coloboma syndrome | 1 test |
| Renal cysts and diabetes syndrome | 1 test |
| Renal dysplasia and retinal aplasia | 1 test |
| Renal-hepatic-pancreatic dysplasia 1 | 1 test |
| Reticular dysgenesis | 1 test |
| Reticulate acropigmentation of Kitamura | 1 test |
| Retinal cone dystrophy 4 | 1 test |
| Retinal degeneration, autosomal recessive, clumped pigment type | 4 tests |
| Retinal macular dystrophy type 2 | 5 tests |
| Retinitis pigmentosa | 2 tests |
| Retinitis pigmentosa 1 | 1 test |
| Retinitis pigmentosa 10 | 6 tests |
| Retinitis pigmentosa 11 | 6 tests |
| Retinitis pigmentosa 12 | 7 tests |
| Retinitis pigmentosa 13 | 1 test |
| Retinitis pigmentosa 14 | 2 tests |
| Retinitis pigmentosa 17 | 6 tests |
| Retinitis pigmentosa 19 | 7 tests |
| Retinitis pigmentosa 2 | 6 tests |
| Retinitis pigmentosa 20 | 5 tests |
| Retinitis pigmentosa 25 | 6 tests |
| Retinitis pigmentosa 26 | 1 test |
| Retinitis pigmentosa 27 | 5 tests |
| Retinitis pigmentosa 28 | 6 tests |
| Retinitis pigmentosa 3 | 5 tests |
| Retinitis pigmentosa 30 | 6 tests |
| Retinitis pigmentosa 31 | 6 tests |
| Retinitis pigmentosa 33 | 1 test |
| Retinitis pigmentosa 36 | 1 test |
| Retinitis pigmentosa 37 | 3 tests |
| Retinitis pigmentosa 38 | 6 tests |
| Retinitis pigmentosa 39 | 4 tests |
| Retinitis pigmentosa 4 | 1 test |
| Retinitis pigmentosa 40 | 6 tests |
| Retinitis pigmentosa 41 | 5 tests |
| Retinitis pigmentosa 42 | 1 test |
| Retinitis pigmentosa 43 | 1 test |
| Retinitis pigmentosa 44 | 6 tests |
| Retinitis pigmentosa 45 | 6 tests |
| Retinitis pigmentosa 46 | 1 test |
| Retinitis pigmentosa 47 | 6 tests |
| Retinitis pigmentosa 48 | 5 tests |
| Retinitis pigmentosa 49 | 1 test |
| Retinitis pigmentosa 50 | 5 tests |
| Retinitis pigmentosa 51 | 1 test |
| Retinitis pigmentosa 54 | 6 tests |
| Retinitis pigmentosa 55 | 1 test |
| Retinitis pigmentosa 56 | 6 tests |
| Retinitis pigmentosa 57 | 1 test |
| Retinitis pigmentosa 58 | 1 test |
| Retinitis pigmentosa 59 | 6 tests |
| Retinitis pigmentosa 60 | 1 test |
| Retinitis pigmentosa 61 | 4 tests |
| Retinitis pigmentosa 7 | 6 tests |
| Retinitis pigmentosa 7, digenic | 4 tests |
| Retinitis pigmentosa 9 | 1 test |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 4 tests |
| Retinitis punctata albescens | 4 tests |
| Retinoblastoma | 1 test |
| Rett syndrome | 8 tests |
| Rett syndrome, congenital variant | 3 tests |
| Rheumatoid arthritis | 1 test |
| Rhizomelic chondrodysplasia punctata type 2 | 3 tests |
| Rhizomelic chondrodysplasia punctata type 3 | 4 tests |
| Ring dermoid of cornea | 1 test |
| Rothmund-Thomson syndrome | 3 tests |
| Roussy-Lévy syndrome | 1 test |
| Rubinstein-Taybi syndrome | 6 tests |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 6 tests |
| SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 4 tests |
| SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | 4 tests |
| SLC35A1-congenital disorder of glycosylation | 5 tests |
| SLC35A2-congenital disorder of glycosylation | 3 tests |
| SRD5A3-congenital disorder of glycosylation | 2 tests |
| Saccharopinuria | 1 test |
| Salla disease | 3 tests |
| Sandhoff disease | 3 tests |
| Sarcosine dehydrogenase deficiency | 1 test |
| Sarcotubular myopathy | 1 test |
| Schaaf-Yang syndrome | 3 tests |
| Schizencephaly | 1 test |
| Schizophrenia | 3 tests |
| Schizophrenia 4 | 1 test |
| Schwannomatosis 1 | 3 tests |
| Sclerosteosis 1 | 1 test |
| Scoliosis, isolated, susceptibility to, 3 | 6 tests |
| Seizures, benign familial neonatal, 1 | 3 tests |
| Sengers syndrome | 1 test |
| Senior-Loken syndrome 4 | 1 test |
| Senior-Loken syndrome 5 | 7 tests |
| Senior-Loken syndrome 6 | 6 tests |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 7 tests |
| Septo-optic dysplasia sequence | 1 test |
| Severe X-linked mitochondrial encephalomyopathy | 4 tests |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 4 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 6 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 6 tests |
| Severe early-childhood-onset retinal dystrophy | 7 tests |
| Severe neonatal-onset encephalopathy with microcephaly | 7 tests |
| Sex-linked hereditary disorder | 2 tests |
| Shprintzen-Goldberg syndrome | 5 tests |
| Shwachman-Diamond syndrome 1 | 5 tests |
| Sialuria | 2 tests |
| Sideroblastic anemia 2 | 1 test |
| Simpson-Golabi-Behmel syndrome type 1 | 5 tests |
| Sjögren-Larsson syndrome | 4 tests |
| Skin/hair/eye pigmentation, variation in, 11 | 4 tests |
| Skin/hair/eye pigmentation, variation in, 2 | 1 test |
| Small cell lung carcinoma | 1 test |
| Smith-Lemli-Opitz syndrome | 4 tests |
| Smith-Magenis syndrome | 3 tests |
| Snowflake vitreoretinal degeneration | 2 tests |
| Solid tumor | 2 tests |
| Solitary median maxillary central incisor syndrome | 1 test |
| Sorsby fundus dystrophy | 1 test |
| Sotos syndrome | 1 test |
| Spastic ataxia 3 | 1 test |
| Spastic ataxia 4 | 1 test |
| Spastic ataxia 5 | 1 test |
| Sphingolipid activator protein 1 deficiency | 1 test |
| Spinal muscular atrophy, type II | 1 test |
| Spinal muscular atrophy, type IV | 1 test |
| Spinocerebellar ataxia type 1 | 1 test |
| Spinocerebellar ataxia type 10 | 1 test |
| Spinocerebellar ataxia type 14 | 6 tests |
| Spinocerebellar ataxia type 28 | 1 test |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 1 test |
| Spondyloepiphyseal dysplasia congenita | 6 tests |
| Spondyloepiphyseal dysplasia with metatarsal shortening | 6 tests |
| Spondyloperipheral dysplasia | 1 test |
| Spongy degeneration of central nervous system | 3 tests |
| Squamous cell carcinoma of the head and neck | 13 tests |
| Stargardt disease 3 | 1 test |
| Stargardt disease 4 | 5 tests |
| Steinert myotonic dystrophy syndrome | 2 tests |
| Sterol carrier protein 2 deficiency | 4 tests |
| Stickler syndrome type 1 | 1 test |
| Stiff skin syndrome | 5 tests |
| Succinate-semialdehyde dehydrogenase deficiency | 7 tests |
| Succinyl-CoA acetoacetate transferase deficiency | 1 test |
| Sulfite oxidase deficiency | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 5 tests |
| Sulfocysteinuria | 1 test |
| Supravalvar aortic stenosis | 1 test |
| Syndactyly-telecanthus-anogenital and renal malformations syndrome | 1 test |
| Syndromic X-linked intellectual disability Lubs type | 7 tests |
| Syndromic microphthalmia type 5 | 2 tests |
| Synovial sarcoma | 1 test |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 3 tests |
| TMEM165-congenital disorder of glycosylation | 3 tests |
| Tay-Sachs disease | 7 tests |
| Tay-Sachs disease, variant AB | 1 test |
| Telangiectasia, hereditary hemorrhagic, type 1 | 3 tests |
| Tetralogy of Fallot | 5 tests |
| Thanatophoric dysplasia type 1 | 2 tests |
| Thanatophoric dysplasia, type 2 | 2 tests |
| Thiel-Behnke corneal dystrophy | 1 test |
| Thrombocythemia 2 | 3 tests |
| Thrombocytopenia 2 | 1 test |
| Thrombocytopenia 4 | 1 test |
| Thrombophilia | 4 tests |
| Thrombophilia due to activated protein C resistance | 2 tests |
| Thrombophilia due to protein C deficiency, autosomal dominant | 6 tests |
| Thrombophilia due to protein C deficiency, autosomal recessive | 6 tests |
| Thyroid cancer, nonmedullary, 2 | 9 tests |
| Thyroid hormone metabolism, abnormal | 1 test |
| Transcobalamin II deficiency | 9 tests |
| Transferrin serum level quantitative trait locus 2 | 1 test |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 1 test |
| Triglyceride storage disease with ichthyosis | 1 test |
| Tuberous sclerosis 1 | 1 test |
| Tuberous sclerosis 2 | 1 test |
| Type 1 diabetes mellitus 20 | 1 test |
| Type 2 diabetes mellitus | 2 tests |
| Tyrosinase-positive oculocutaneous albinism | 6 tests |
| Tyrosinemia type I | 9 tests |
| Tyrosinemia type II | 7 tests |
| Tyrosinemia type III | 5 tests |
| UDPglucose-4-epimerase deficiency | 6 tests |
| Usher syndrome type 1 | 1 test |
| Usher syndrome type 1C | 7 tests |
| Usher syndrome type 1D | 11 tests |
| Usher syndrome type 1F | 3 tests |
| Usher syndrome type 1G | 1 test |
| Usher syndrome type 2A | 5 tests |
| Usher syndrome type 2C | 6 tests |
| Usher syndrome type 2D | 5 tests |
| Usher syndrome type 3 | 5 tests |
| Usher syndrome type 3B | 1 test |
| VACTERL with hydrocephalus | 13 tests |
| Van Buchem disease type 2 | 1 test |
| Vanishing white matter disease | 4 tests |
| Variegate porphyria | 2 tests |
| Velocardiofacial syndrome | 1 test |
| Very long chain acyl-CoA dehydrogenase deficiency | 13 tests |
| Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | 4 tests |
| Vitamin D-dependent rickets type II with alopecia | 2 tests |
| Vitamin D-dependent rickets, type 1 | 1 test |
| Vitelliform macular dystrophy | 1 test |
| Vitelliform macular dystrophy 2 | 5 tests |
| Von Hippel-Lindau syndrome | 13 tests |
| Weill-Marchesani syndrome 2, dominant | 5 tests |
| Werdnig-Hoffmann disease | 1 test |
| Wilms tumor 1 | 14 tests |
| Wilson disease | 7 tests |
| Wilson-Turner syndrome | 1 test |
| Wolfram syndrome | 1 test |
| Wolfram syndrome 2 | 1 test |
| Wolfram-like syndrome | 1 test |
| Woolly hair-skin fragility syndrome | 1 test |
| Worth disease | 1 test |
| Wrinkly skin syndrome | 5 tests |
| X-linked cone-rod dystrophy 1 | 1 test |
| X-linked cone-rod dystrophy 3 | 1 test |
| X-linked distal spinal muscular atrophy type 3 | 5 tests |
| X-linked erythropoietic protoporphyria | 1 test |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 test |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 7 tests |
| X-linked lissencephaly with abnormal genitalia | 6 tests |
| X-linked mixed hearing loss with perilymphatic gusher | 3 tests |
| X-linked severe combined immunodeficiency | 3 tests |
| X-linked sideroblastic anemia 1 | 1 test |
| X-linked sideroblastic anemia with ataxia | 1 test |
| beta Thalassemia | 2 tests |
| de Barsy syndrome | 1 test |