Mayo Clinic Laboratories (Mayo Clinic)
General information
Mayo Clinic Laboratories
Mayo Clinic
3050 Superior Drive NW
Rochester
Minnesota
United States - 55901
https://www.mayocliniclabs.com/
Organization ID: 500068
Mayo Clinic
3050 Superior Drive NW
Rochester
Minnesota
United States - 55901
https://www.mayocliniclabs.com/
Organization ID: 500068
Personnel
- Genetic Counselor, Genetic Counselor
Phone: 507-284-0204
Email: gcmolgen@mayo.edu - Erik Thorland, Lab Director
Phone: 507-284-9617
Email: thorland.erik@mayo.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12832
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAAS | 3 | Dec 21, 2023 |
| AARS1 | 9 | Jan 5, 2024 |
| AARS2 | 9 | May 23, 2018 |
| AASS | 7 | May 23, 2018 |
| ABAT | 16 | Jul 7, 2022 |
| ABCA1 | 20 | Jan 5, 2024 |
| ABCB11 | 20 | Dec 21, 2023 |
| ABCB4 | 18 | Jan 5, 2024 |
| ABCB6 | 3 | Dec 21, 2023 |
| ABCB7 | 9 | Oct 15, 2018 |
| ABCC2 | 26 | Jan 5, 2024 |
| ABCC8 | 1 | Feb 28, 2018 |
| ABCC9 | 5 | Dec 21, 2023 |
| ABCD1 | 19 | Dec 21, 2023 |
| ABCD2 | 2 | May 23, 2018 |
| ABCD3 | 3 | May 23, 2018 |
| ABCD4 | 1 | Dec 21, 2023 |
| ABCG5 | 22 | Jan 5, 2024 |
| ABCG8 | 33 | Jan 5, 2024 |
| ABHD12 | 2 | Dec 21, 2023 |
| ABHD14A-ACY1 | 6 | Dec 21, 2023 |
| ACACA | 13 | Dec 21, 2023 |
| ACAD8 | 1 | Dec 21, 2023 |
| ACAD9 | 13 | Dec 21, 2023 |
| ACADM | 5 | Jan 5, 2024 |
| ACADS | 4 | Dec 21, 2023 |
| ACADSB | 1 | Dec 21, 2023 |
| ACADVL | 16 | Jan 5, 2024 |
| ACO2 | 8 | Dec 21, 2023 |
| ACOX1 | 11 | Dec 21, 2023 |
| ACOX2 | 1 | Jul 18, 2018 |
| ACOX3 | 12 | Sep 15, 2023 |
| ACP2 | 5 | May 23, 2018 |
| ACSF3 | 4 | Jan 5, 2024 |
| ACTA2 | 2 | Dec 21, 2023 |
| ACTA2-AS1 | 1 | May 26, 2021 |
| ACTC1 | 2 | Dec 21, 2023 |
| ACTN2 | 15 | Dec 21, 2023 |
| ACTN4 | 1 | Dec 21, 2023 |
| ACVRL1 | 39 | Jan 5, 2024 |
| ACY1 | 6 | Dec 21, 2023 |
| ACYP1 | 2 | Jan 5, 2024 |
| ADA | 4 | Dec 21, 2023 |
| ADA2 | 3 | May 26, 2021 |
| ADAM17 | 2 | Dec 21, 2023 |
| ADAMTS10 | 2 | Dec 21, 2023 |
| ADAMTS13 | 49 | Jan 5, 2024 |
| ADAMTS17 | 2 | Dec 21, 2023 |
| ADAMTS2 | 24 | Dec 21, 2023 |
| ADAR | 1 | Feb 28, 2018 |
| ADCY10 | 1 | Dec 21, 2023 |
| ADCY6 | 7 | Dec 21, 2023 |
| ADGRG1 | 6 | Dec 21, 2023 |
| ADGRG6 | 8 | Dec 21, 2023 |
| ADGRV1 | 11 | Dec 21, 2023 |
| ADSL | 7 | Dec 21, 2023 |
| AEBP1 | 6 | Dec 21, 2023 |
| AFG3L2 | 12 | Sep 15, 2023 |
| AGA | 10 | May 26, 2021 |
| AGA-DT | 3 | May 23, 2018 |
| AGK | 2 | May 23, 2018 |
| AGL | 67 | Dec 21, 2023 |
| AGO1 | 1 | Feb 28, 2018 |
| AGPAT2 | 4 | Dec 21, 2023 |
| AGPS | 4 | May 23, 2018 |
| AGRN | 9 | Dec 21, 2023 |
| AGXT | 4 | Jan 5, 2024 |
| AHDC1 | 1 | Feb 28, 2018 |
| AHNAK | 1 | Feb 28, 2018 |
| AHNAK2 | 2 | Jul 18, 2018 |
| AIFM1 | 11 | Dec 21, 2023 |
| AK1 | 2 | Dec 21, 2023 |
| AKAP9 | 14 | Dec 21, 2023 |
| AKR1D1 | 2 | Dec 21, 2023 |
| AKT2 | 1 | Dec 21, 2023 |
| ALAD | 1 | Dec 21, 2023 |
| ALAS2 | 2 | Dec 21, 2023 |
| ALDH18A1 | 2 | Dec 21, 2023 |
| ALDH3A2 | 11 | May 23, 2018 |
| ALDH5A1 | 3 | Dec 21, 2023 |
| ALDH7A1 | 2 | Dec 21, 2023 |
| ALDOA | 14 | Jan 5, 2024 |
| ALDOB | 4 | Jan 5, 2024 |
| ALG1 | 2 | Dec 21, 2023 |
| ALG12 | 1 | Feb 28, 2018 |
| ALG13 | 3 | Dec 21, 2023 |
| ALG2 | 1 | Dec 21, 2023 |
| ALG8 | 4 | Dec 21, 2023 |
| ALG9 | 1 | Dec 21, 2023 |
| ALPK3 | 2 | Dec 21, 2023 |
| ALPL | 1 | Dec 21, 2023 |
| ALS2 | 2 | Dec 21, 2023 |
| AMACR | 22 | Dec 21, 2023 |
| AMN | 1 | Dec 21, 2023 |
| AMPD1 | 8 | May 23, 2018 |
| AMPD2 | 1 | Dec 21, 2023 |
| AMT | 1 | May 26, 2021 |
| ANAPC15 | 2 | Dec 21, 2023 |
| ANG | 1 | Jan 5, 2024 |
| ANK1 | 87 | Jan 5, 2024 |
| ANK2 | 16 | Dec 21, 2023 |
| ANK3 | 1 | Feb 28, 2018 |
| ANKRD1 | 3 | Jul 7, 2022 |
| ANKRD11 | 2 | Feb 28, 2018 |
| ANKS6 | 2 | Dec 21, 2023 |
| ANO10 | 1 | Dec 21, 2023 |
| ANO5 | 14 | Jan 5, 2024 |
| AOPEP | 6 | Dec 21, 2023 |
| AP3B1 | 6 | Dec 21, 2023 |
| AP4B1 | 4 | Jul 7, 2022 |
| AP4B1-AS1 | 3 | Jul 7, 2022 |
| AP4E1 | 5 | Sep 15, 2023 |
| AP4M1 | 10 | Dec 21, 2023 |
| AP4S1 | 4 | Jul 7, 2022 |
| AP5Z1 | 25 | Jan 5, 2024 |
| APC | 222 | Jan 5, 2024 |
| APOA1 | 3 | May 26, 2021 |
| APOA1-AS | 3 | May 26, 2021 |
| APOA5 | 1 | Dec 21, 2023 |
| APOB | 25 | Jan 5, 2024 |
| APTX | 10 | Sep 15, 2023 |
| ARFGEF2 | 11 | Dec 21, 2023 |
| ARHGAP35 | 1 | Feb 28, 2018 |
| ARHGEF10 | 23 | Jan 5, 2024 |
| ARHGEF9 | 1 | Jul 7, 2022 |
| ARSA | 23 | Jan 5, 2024 |
| ARSB | 17 | Dec 21, 2023 |
| ARSH | 15 | May 23, 2018 |
| ARSL | 1 | Feb 28, 2018 |
| ARX | 2 | Dec 21, 2023 |
| ASAH1 | 22 | Dec 21, 2023 |
| ASIC4-AS1 | 12 | Dec 21, 2023 |
| ASL | 2 | Jul 7, 2022 |
| ASPM | 2 | Feb 28, 2018 |
| ASS1 | 1 | Jun 9, 2022 |
| ASTN2 | 8 | Dec 21, 2023 |
| ASXL3 | 1 | Feb 28, 2018 |
| ATL1 | 5 | Dec 21, 2023 |
| ATL3 | 1 | Dec 21, 2023 |
| ATM | 52 | Jan 22, 2024 |
| ATN1 | 1 | Dec 21, 2023 |
| ATP13A2 | 39 | Jan 5, 2024 |
| ATP1A2 | 4 | Dec 21, 2023 |
| ATP2A1 | 4 | Dec 21, 2023 |
| ATP2C2 | 1 | Feb 28, 2018 |
| ATP5F1A | 7 | May 23, 2018 |
| ATP5MC3 | 1 | May 23, 2018 |
| ATP7A | 12 | Dec 21, 2023 |
| ATP7B | 170 | Apr 10, 2024 |
| ATP8A2 | 2 | Dec 21, 2023 |
| ATP8B1 | 6 | Jan 5, 2024 |
| ATP8B1-AS1 | 1 | Dec 21, 2023 |
| ATPAF2 | 3 | May 23, 2018 |
| ATRX | 2 | Jul 7, 2022 |
| AUH | 10 | Jun 9, 2022 |
| AUTS2 | 1 | Feb 28, 2018 |
| AXIN2 | 29 | Dec 21, 2023 |
| B3GALT6 | 3 | Dec 21, 2023 |
| B3GAT3 | 3 | Dec 21, 2023 |
| B3GLCT | 1 | Feb 28, 2018 |
| B4GALNT1 | 11 | Jan 5, 2024 |
| B4GALT7 | 3 | Dec 21, 2023 |
| B4GAT1 | 2 | Jul 7, 2022 |
| BAAT | 2 | Dec 21, 2023 |
| BAG3 | 11 | Dec 21, 2023 |
| BAP1 | 2 | Dec 21, 2023 |
| BARD1 | 3 | Dec 21, 2023 |
| BBS1 | 1 | Feb 28, 2018 |
| BCKDHA | 1 | Jul 7, 2022 |
| BCKDHB | 3 | Jul 7, 2022 |
| BCKDK | 1 | Dec 21, 2023 |
| BCS1L | 7 | Dec 21, 2023 |
| BDP1 | 5 | Dec 21, 2023 |
| BICC1 | 1 | Dec 21, 2023 |
| BICD2 | 3 | Dec 21, 2023 |
| BIN1 | 4 | Dec 21, 2023 |
| BLM | 3 | Dec 21, 2023 |
| BLNK | 2 | May 26, 2021 |
| BMP1 | 1 | Dec 21, 2023 |
| BMPR1A | 13 | Dec 21, 2023 |
| BMPR2 | 1 | Feb 28, 2018 |
| BOLA3 | 3 | May 26, 2021 |
| BRAF | 5 | Dec 21, 2023 |
| BRCA1 | 102 | Jan 5, 2024 |
| BRCA2 | 174 | Jan 5, 2024 |
| BRIP1 | 4 | Dec 21, 2023 |
| BSCL2 | 10 | Dec 21, 2023 |
| BSND | 1 | Dec 21, 2023 |
| BTD | 1 | Dec 21, 2023 |
| BTK | 2 | May 26, 2021 |
| BVES | 5 | Dec 21, 2023 |
| C11orf65 | 22 | Jan 5, 2024 |
| C12orf57 | 2 | Dec 21, 2023 |
| C17orf107 | 1 | Dec 21, 2023 |
| C1QTNF3-AMACR | 22 | Dec 21, 2023 |
| C2CD3 | 1 | Dec 21, 2023 |
| C3 | 39 | Jan 5, 2024 |
| C5 | 1 | Feb 28, 2018 |
| CA5A | 8 | May 23, 2018 |
| CABP2 | 1 | Dec 21, 2023 |
| CACNA1A | 14 | Dec 21, 2023 |
| CACNA1C | 10 | Jan 5, 2024 |
| CACNA1C-AS1 | 2 | Dec 21, 2023 |
| CACNA1D | 1 | Dec 21, 2023 |
| CACNA1E | 2 | Dec 21, 2023 |
| CACNA1H | 3 | Dec 21, 2023 |
| CACNA1S | 14 | Dec 21, 2023 |
| CACNA2D1 | 1 | May 26, 2021 |
| CACNA2D2 | 3 | Dec 21, 2023 |
| CACNB2 | 3 | Dec 21, 2023 |
| CACNB4 | 2 | Jul 18, 2018 |
| CAD | 3 | Dec 21, 2023 |
| CADPS | 1 | Feb 28, 2018 |
| CAPN1 | 1 | Dec 21, 2023 |
| CAPN3 | 12 | Dec 21, 2023 |
| CARD11 | 2 | Sep 15, 2023 |
| CARD14 | 21 | Dec 21, 2023 |
| CARS2 | 2 | Dec 21, 2023 |
| CASQ1 | 1 | Feb 28, 2018 |
| CASR | 14 | Dec 21, 2023 |
| CAT | 4 | May 23, 2018 |
| CATIP-AS2 | 4 | May 23, 2018 |
| CAV3 | 5 | Jul 7, 2022 |
| CAVIN1 | 3 | Jan 5, 2024 |
| CBL | 3 | Dec 21, 2023 |
| CBLIF | 1 | Dec 21, 2023 |
| CBS | 14 | Jan 5, 2024 |
| CC2D2A | 10 | Dec 21, 2023 |
| CCDC103 | 3 | Dec 21, 2023 |
| CCDC40 | 2 | Dec 21, 2023 |
| CCDC88C | 1 | Dec 21, 2023 |
| CCDST | 2 | Feb 28, 2018 |
| CCNF | 1 | Dec 21, 2023 |
| CCNH | 2 | Dec 21, 2023 |
| CCNO | 1 | Mar 20, 2024 |
| CCT5 | 4 | Dec 21, 2023 |
| CD19 | 1 | Dec 21, 2023 |
| CD27 | 1 | May 26, 2021 |
| CD27-AS1 | 1 | May 26, 2021 |
| CD40LG | 1 | May 26, 2021 |
| CD46 | 19 | Jan 5, 2024 |
| CD59 | 3 | May 26, 2021 |
| CD79A | 1 | Jul 7, 2022 |
| CD79B | 1 | May 26, 2021 |
| CDAN1 | 36 | Jan 5, 2024 |
| CDC14A | 4 | Dec 21, 2023 |
| CDH1 | 35 | Dec 21, 2023 |
| CDH23 | 8 | Dec 21, 2023 |
| CDHR1 | 1 | Feb 28, 2018 |
| CDIN1 | 4 | Jan 5, 2024 |
| CDK5RAP2 | 3 | Feb 28, 2018 |
| CDKL5 | 1 | Jul 7, 2022 |
| CDKN1B | 1 | Dec 21, 2023 |
| CDKN2A | 1 | Dec 21, 2023 |
| CEACAM16 | 2 | Dec 21, 2023 |
| CEACAM16-AS1 | 2 | Dec 21, 2023 |
| CENPT | 1 | Jul 7, 2022 |
| CEP164 | 1 | Dec 21, 2023 |
| CEP290 | 1 | Feb 28, 2018 |
| CEP63 | 1 | May 26, 2021 |
| CEP78 | 2 | Dec 21, 2023 |
| CEP83 | 1 | Dec 21, 2023 |
| CEP85L | 2 | Dec 21, 2023 |
| CERS1 | 2 | May 26, 2021 |
| CFB | 7 | Dec 21, 2023 |
| CFD | 9 | Dec 21, 2023 |
| CFH | 61 | Jan 5, 2024 |
| CFHR1 | 9 | Jan 5, 2024 |
| CFHR2 | 6 | Dec 21, 2023 |
| CFHR3 | 9 | Jan 5, 2024 |
| CFHR4 | 6 | Dec 21, 2023 |
| CFHR5 | 24 | Dec 21, 2023 |
| CFI | 32 | Jan 5, 2024 |
| CFL2 | 2 | Dec 21, 2023 |
| CFTR | 220 | Feb 2, 2024 |
| CFTR-AS1 | 17 | Jan 5, 2024 |
| CHAT | 15 | Jul 7, 2022 |
| CHCHD10 | 1 | Dec 21, 2023 |
| CHD2 | 2 | Dec 21, 2023 |
| CHD3 | 1 | Feb 28, 2018 |
| CHD7 | 7 | Dec 21, 2023 |
| CHEK2 | 17 | Jan 5, 2024 |
| CHIT1 | 16 | May 23, 2018 |
| CHKB | 1 | Feb 28, 2018 |
| CHKB-CPT1B | 1 | Feb 28, 2018 |
| CHMP2B | 1 | Dec 21, 2023 |
| CHPT1 | 3 | Jul 7, 2022 |
| CHRNA2 | 3 | May 26, 2021 |
| CHRNA4 | 7 | Dec 21, 2023 |
| CHRNB2 | 1 | Dec 21, 2023 |
| CHRND | 1 | Dec 21, 2023 |
| CHRNE | 2 | Dec 21, 2023 |
| CHRNG | 1 | Feb 28, 2018 |
| CHST14 | 6 | Dec 21, 2023 |
| CHST6 | 1 | Feb 28, 2018 |
| CHST8 | 2 | Jul 7, 2022 |
| CHSY1 | 1 | Dec 21, 2023 |
| CIB2 | 2 | Dec 21, 2023 |
| CIDEC | 2 | Dec 21, 2023 |
| CIITA | 1 | Dec 21, 2023 |
| CLCF1 | 5 | Jul 7, 2022 |
| CLCN1 | 10 | Dec 21, 2023 |
| CLCNKA | 1 | Dec 21, 2023 |
| CLDN14 | 1 | Dec 21, 2023 |
| CLDN14-AS1 | 1 | Dec 21, 2023 |
| CLN3 | 11 | Jan 5, 2024 |
| CLN5 | 17 | Jul 7, 2022 |
| CLN6 | 11 | Sep 15, 2023 |
| CLN8 | 5 | Dec 21, 2023 |
| CLPB | 2 | Dec 21, 2023 |
| CLPP | 6 | Dec 21, 2023 |
| CLPX | 1 | Dec 21, 2023 |
| CNTN1 | 2 | Dec 21, 2023 |
| CNTN2 | 1 | Feb 28, 2018 |
| CNTNAP1 | 19 | Dec 21, 2023 |
| CNTNAP2 | 11 | Dec 21, 2023 |
| COA5 | 2 | May 23, 2018 |
| COA6 | 2 | May 23, 2018 |
| COA8 | 7 | Jan 5, 2024 |
| COCH | 1 | Dec 21, 2023 |
| COG4 | 1 | May 26, 2021 |
| COG5 | 1 | May 26, 2021 |
| COG7 | 7 | Dec 21, 2023 |
| COG8 | 3 | Dec 21, 2023 |
| COL11A1 | 3 | Dec 21, 2023 |
| COL11A2 | 3 | Dec 21, 2023 |
| COL12A1 | 18 | Dec 21, 2023 |
| COL13A1 | 2 | Dec 21, 2023 |
| COL1A1 | 31 | Jan 5, 2024 |
| COL1A2 | 16 | Jan 5, 2024 |
| COL27A1 | 1 | Feb 28, 2018 |
| COL2A1 | 2 | Dec 21, 2023 |
| COL3A1 | 25 | Jan 5, 2024 |
| COL4A1 | 11 | Dec 21, 2023 |
| COL4A2 | 1 | Dec 21, 2023 |
| COL4A3 | 9 | Dec 21, 2023 |
| COL4A4 | 6 | Dec 21, 2023 |
| COL4A5 | 5 | Dec 21, 2023 |
| COL4A6 | 1 | Dec 21, 2023 |
| COL5A1 | 55 | Jan 5, 2024 |
| COL5A2 | 25 | Jan 5, 2024 |
| COL6A1 | 13 | Jan 5, 2024 |
| COL6A2 | 14 | Jan 5, 2024 |
| COL6A3 | 18 | Dec 21, 2023 |
| COL9A1 | 3 | Dec 21, 2023 |
| COL9A2 | 1 | Feb 28, 2018 |
| COL9A3 | 2 | Dec 21, 2023 |
| COLQ | 2 | Feb 28, 2018 |
| COQ2 | 7 | Jan 5, 2024 |
| COQ4 | 9 | Dec 21, 2023 |
| COQ6 | 10 | Jan 5, 2024 |
| COQ7 | 1 | Dec 21, 2023 |
| COQ8A | 16 | Dec 21, 2023 |
| COQ8B | 12 | May 23, 2018 |
| COQ9 | 4 | May 26, 2021 |
| CORO1A | 1 | Dec 21, 2023 |
| COX10 | 19 | Dec 21, 2023 |
| COX14 | 1 | May 23, 2018 |
| COX15 | 4 | Dec 21, 2023 |
| COX20 | 3 | May 23, 2018 |
| COX4I2 | 1 | May 23, 2018 |
| COX6B1 | 1 | May 23, 2018 |
| COX7B | 2 | May 23, 2018 |
| CP | 1 | Dec 21, 2023 |
| CPA6 | 1 | Jul 7, 2022 |
| CPLANE1 | 1 | Dec 21, 2023 |
| CPOX | 7 | Dec 21, 2023 |
| CPS1 | 1 | Dec 21, 2023 |
| CPT2 | 19 | Jan 5, 2024 |
| CR2 | 3 | Dec 21, 2023 |
| CRB2 | 7 | Dec 21, 2023 |
| CRLF1 | 5 | Dec 21, 2023 |
| CRPPA | 2 | Jan 5, 2024 |
| CRPPA-AS1 | 1 | Jan 5, 2024 |
| CRTAP | 3 | Dec 21, 2023 |
| CRYAB | 3 | Dec 21, 2023 |
| CSF1R | 3 | Dec 21, 2023 |
| CSF2RA | 1 | Jul 7, 2022 |
| CSF3R | 10 | Dec 21, 2023 |
| CSNK2B | 2 | Jul 18, 2018 |
| CSPP1 | 1 | Dec 21, 2023 |
| CSRP3 | 3 | Dec 21, 2023 |
| CSTB | 2 | Dec 21, 2023 |
| CTC1 | 8 | Dec 21, 2023 |
| CTCF | 1 | Jul 18, 2018 |
| CTDP1 | 21 | Dec 21, 2023 |
| CTLA4 | 1 | May 26, 2021 |
| CTNNB1 | 1 | Jul 18, 2018 |
| CTNS | 12 | Jul 7, 2022 |
| CTNS-AS1 | 6 | Jul 7, 2022 |
| CTRC | 21 | Jan 5, 2024 |
| CTSA | 18 | Dec 21, 2023 |
| CTSD | 13 | Jul 7, 2022 |
| CTSF | 15 | Jan 5, 2024 |
| CTSK | 1 | May 23, 2018 |
| CUBN | 11 | Dec 21, 2023 |
| CXCR4 | 5 | Jul 7, 2022 |
| CYB561D2 | 2 | Dec 21, 2023 |
| CYBB | 2 | Dec 21, 2023 |
| CYC1 | 5 | May 23, 2018 |
| CYLD-AS1 | 1 | May 26, 2021 |
| CYP21A2 | 1 | Dec 21, 2023 |
| CYP24A1 | 2 | Dec 21, 2023 |
| CYP27A1 | 9 | Dec 21, 2023 |
| CYP2R1 | 2 | Dec 21, 2023 |
| CYP2U1 | 7 | Dec 21, 2023 |
| CYP2U1-AS1 | 3 | Dec 21, 2023 |
| CYP7A1 | 3 | Dec 21, 2023 |
| CYP7B1 | 10 | Jan 5, 2024 |
| D2HGDH | 15 | Dec 21, 2023 |
| DAG1 | 1 | Dec 21, 2023 |
| DARS2 | 29 | Dec 21, 2023 |
| DBNL | 7 | Jul 7, 2022 |
| DCDC2 | 2 | Dec 21, 2023 |
| DCLRE1C | 4 | Jul 7, 2022 |
| DCTN1 | 5 | Dec 21, 2023 |
| DCX | 2 | May 26, 2021 |
| DDHD1 | 12 | Jan 5, 2024 |
| DDHD2 | 7 | Dec 21, 2023 |
| DDX3X | 1 | Feb 28, 2018 |
| DEPDC5 | 9 | Dec 21, 2023 |
| DES | 8 | Dec 21, 2023 |
| DGAT1 | 1 | Feb 28, 2018 |
| DGKE | 6 | Dec 21, 2023 |
| DGUOK | 11 | Jan 5, 2024 |
| DGUOK-AS1 | 1 | Jan 5, 2024 |
| DHCR7 | 3 | Dec 21, 2023 |
| DHDDS | 1 | May 26, 2021 |
| DHH | 6 | Dec 21, 2023 |
| DHTKD1 | 17 | Jan 5, 2024 |
| DIAPH1 | 3 | Dec 21, 2023 |
| DICER1 | 2 | Dec 21, 2023 |
| DIS3L2 | 1 | Dec 21, 2023 |
| DKC1 | 2 | May 26, 2021 |
| DLAT | 12 | May 23, 2018 |
| DLD | 12 | Dec 21, 2023 |
| DMAC2L | 3 | May 23, 2018 |
| DMD | 20 | Dec 21, 2023 |
| DMP1 | 2 | Dec 21, 2023 |
| DMXL2 | 2 | Dec 21, 2023 |
| DNA2 | 11 | May 23, 2018 |
| DNAAF1 | 1 | Feb 28, 2018 |
| DNAAF2 | 1 | Dec 21, 2023 |
| DNAAF3 | 2 | Dec 21, 2023 |
| DNAAF3-AS1 | 2 | Dec 21, 2023 |
| DNAAF6 | 1 | Jul 18, 2018 |
| DNAH1 | 6 | Dec 21, 2023 |
| DNAH11 | 5 | Dec 21, 2023 |
| DNAH5 | 5 | Dec 21, 2023 |
| DNAH8 | 5 | Dec 21, 2023 |
| DNAH8-AS1 | 1 | Dec 21, 2023 |
| DNAI2 | 1 | Jul 16, 2018 |
| DNAJB11 | 1 | Dec 21, 2023 |
| DNAJB13 | 1 | Dec 21, 2023 |
| DNAJB2 | 1 | May 26, 2021 |
| DNAJB6 | 1 | Jul 7, 2022 |
| DNAJC12 | 3 | Dec 21, 2023 |
| DNAJC19 | 2 | May 23, 2018 |
| DNAJC21 | 2 | Dec 21, 2023 |
| DNAJC5 | 5 | May 23, 2018 |
| DNAJC6 | 1 | Dec 21, 2023 |
| DNAJC9-AS1 | 2 | May 23, 2018 |
| DNASE1 | 5 | May 23, 2018 |
| DNM1L | 9 | May 23, 2018 |
| DNM2 | 8 | Jan 5, 2024 |
| DNMT1 | 6 | Sep 15, 2023 |
| DOCK3 | 1 | Feb 28, 2018 |
| DOCK7 | 12 | Dec 21, 2023 |
| DOCK8 | 7 | Jan 5, 2024 |
| DOK7 | 7 | Dec 21, 2023 |
| DPAGT1 | 4 | Dec 21, 2023 |
| DPM1 | 3 | Dec 21, 2023 |
| DRC1 | 1 | Feb 28, 2018 |
| DSC2 | 7 | Dec 21, 2023 |
| DSCAS | 1 | Dec 21, 2023 |
| DSE | 2 | Dec 21, 2023 |
| DSG2 | 11 | Jan 5, 2024 |
| DSG2-AS1 | 6 | Dec 21, 2023 |
| DSP | 29 | Jan 5, 2024 |
| DST | 61 | Jan 5, 2024 |
| DTNA | 4 | Dec 21, 2023 |
| DUOX2 | 1 | Feb 28, 2018 |
| DUOXA2 | 1 | Feb 28, 2018 |
| DYNC1H1 | 10 | Dec 21, 2023 |
| DYNC2H1 | 1 | Dec 21, 2023 |
| DYNC2LI1 | 16 | Dec 21, 2023 |
| DYRK1A | 1 | Jul 7, 2022 |
| DYSF | 39 | Jan 5, 2024 |
| EARS2 | 10 | May 23, 2018 |
| EBF3 | 1 | Feb 28, 2018 |
| ECH1 | 7 | May 23, 2018 |
| EDNRB | 1 | Feb 28, 2018 |
| EDNRB-AS1 | 1 | Feb 28, 2018 |
| EEF1A2 | 3 | Jul 7, 2022 |
| EFEMP2 | 2 | Dec 21, 2023 |
| EGILA | 1 | Jan 5, 2024 |
| EGR2 | 8 | Dec 21, 2023 |
| EHHADH | 4 | Dec 21, 2023 |
| EHMT1 | 1 | Dec 21, 2023 |
| EIF4G1 | 1 | Dec 21, 2023 |
| ELAC2 | 14 | Jan 5, 2024 |
| ELANE | 11 | Jan 5, 2024 |
| ELN | 1 | Feb 28, 2018 |
| ELP1 | 13 | Jan 5, 2024 |
| ENG | 63 | Jan 5, 2024 |
| ENO3 | 12 | Sep 15, 2023 |
| ENPP1 | 2 | Feb 28, 2018 |
| ENTPD1 | 1 | Feb 28, 2018 |
| ENTPD1-AS1 | 1 | Feb 28, 2018 |
| ENTPD5 | 9 | Jan 5, 2024 |
| EPB41 | 16 | Jan 5, 2024 |
| EPB42 | 31 | Jan 5, 2024 |
| EPHB1 | 1 | May 26, 2021 |
| EPM2A | 16 | Jan 5, 2024 |
| EPM2A-DT | 8 | Dec 21, 2023 |
| EPS8L2 | 2 | Dec 21, 2023 |
| ERBB3 | 9 | Dec 21, 2023 |
| ERCC6 | 20 | Jan 5, 2024 |
| ERCC8 | 11 | Jan 5, 2024 |
| ERLIN2 | 3 | Dec 21, 2023 |
| ESPN | 1 | Dec 21, 2023 |
| ESR1 | 1 | Dec 21, 2023 |
| ETFA | 2 | May 23, 2018 |
| ETFB | 6 | Dec 21, 2023 |
| ETFDH | 12 | Jul 7, 2022 |
| ETHE1 | 5 | May 23, 2018 |
| EVC | 1 | Feb 28, 2018 |
| EXT2 | 2 | Feb 28, 2018 |
| F10 | 3 | Dec 21, 2023 |
| F11 | 11 | Jan 5, 2024 |
| F11-AS1 | 2 | Dec 21, 2023 |
| F12 | 2 | Dec 21, 2023 |
| F13A1 | 3 | Sep 20, 2022 |
| F13B | 2 | Dec 21, 2023 |
| F2 | 1 | Dec 21, 2023 |
| F5 | 1 | Dec 21, 2023 |
| F7 | 19 | Jan 5, 2024 |
| F8 | 32 | Jan 5, 2024 |
| F9 | 6 | Dec 21, 2023 |
| FA2H | 11 | Dec 21, 2023 |
| FAH | 10 | Dec 21, 2023 |
| FAM111B | 1 | Dec 21, 2023 |
| FANCA | 48 | Jan 5, 2024 |
| FANCC | 9 | Dec 21, 2023 |
| FANCG | 5 | Dec 21, 2023 |
| FANCI | 5 | Jul 7, 2022 |
| FARS2 | 9 | Dec 21, 2023 |
| FASTKD2 | 6 | Dec 21, 2023 |
| FAT1 | 1 | Dec 21, 2023 |
| FBLN5 | 4 | Jan 5, 2024 |
| FBN1 | 57 | Jan 5, 2024 |
| FBN2 | 14 | Dec 21, 2023 |
| FBP1 | 4 | Dec 21, 2023 |
| FBXL3 | 8 | Jul 7, 2022 |
| FBXL4 | 11 | Dec 21, 2023 |
| FBXO11 | 1 | Oct 31, 2017 |
| FBXO38 | 3 | Dec 21, 2023 |
| FBXO41 | 2 | Feb 28, 2018 |
| FBXO7 | 2 | Dec 21, 2023 |
| FBXW7 | 1 | Feb 28, 2018 |
| FCSK | 1 | Dec 21, 2023 |
| FDX2 | 1 | Dec 21, 2023 |
| FDX2-ZGLP1 | 1 | Dec 21, 2023 |
| FECH | 14 | Jan 5, 2024 |
| FERMT3 | 1 | Jul 7, 2022 |
| FGA | 9 | Jan 5, 2024 |
| FGB | 5 | Dec 21, 2023 |
| FGD1 | 2 | Jul 7, 2022 |
| FGD4 | 8 | Dec 21, 2023 |
| FGF14 | 2 | Dec 21, 2023 |
| FGF3 | 1 | Dec 21, 2023 |
| FGFR3 | 3 | Jul 7, 2022 |
| FGG | 11 | Jan 5, 2024 |
| FH | 8 | Dec 21, 2023 |
| FIG4 | 18 | Jan 5, 2024 |
| FKBP14 | 6 | Jan 5, 2024 |
| FKBP14-AS1 | 6 | Jan 5, 2024 |
| FKRP | 14 | Jan 5, 2024 |
| FKTN | 10 | Dec 21, 2023 |
| FLAD1 | 1 | Dec 21, 2023 |
| FLCN | 26 | Jan 5, 2024 |
| FLG | 2 | Feb 28, 2018 |
| FLNA | 39 | Dec 21, 2023 |
| FLNC | 21 | Dec 21, 2023 |
| FLNC-AS1 | 7 | Dec 21, 2023 |
| FLT3 | 1 | Oct 17, 2022 |
| FLVCR1 | 5 | Dec 21, 2023 |
| FMO3 | 1 | Dec 21, 2023 |
| FN1 | 1 | Dec 21, 2023 |
| FOLR1 | 2 | Dec 21, 2023 |
| FOXC1 | 2 | Dec 21, 2023 |
| FOXC2 | 1 | Feb 28, 2018 |
| FOXG1 | 1 | Jul 7, 2022 |
| FOXI1 | 1 | Dec 21, 2023 |
| FOXP3 | 1 | May 26, 2021 |
| FOXRED1 | 6 | Dec 21, 2023 |
| FPGT-TNNI3K | 1 | Dec 21, 2023 |
| FRAS1 | 3 | Mar 18, 2024 |
| FREM2 | 1 | Dec 21, 2023 |
| FRRS1L | 1 | Dec 21, 2023 |
| FTCD | 1 | Dec 21, 2023 |
| FUCA1 | 9 | Dec 21, 2023 |
| FUS | 1 | May 23, 2022 |
| FXN | 3 | May 23, 2018 |
| G6PC1 | 13 | Jan 5, 2024 |
| G6PC3 | 7 | Jan 5, 2024 |
| G6PD | 16 | Dec 21, 2023 |
| GAA | 77 | Jan 5, 2024 |
| GABRB3 | 1 | Feb 28, 2018 |
| GABRD | 1 | May 26, 2021 |
| GABRG2 | 2 | Dec 21, 2023 |
| GALC | 48 | Jan 5, 2024 |
| GALE | 1 | May 26, 2021 |
| GALNS | 35 | Dec 21, 2023 |
| GALNT3 | 1 | Dec 21, 2023 |
| GALT | 55 | Dec 21, 2023 |
| GAMT | 5 | Jan 5, 2024 |
| GAN | 5 | Dec 21, 2023 |
| GAREM2 | 11 | Jan 5, 2024 |
| GARS1 | 21 | Jan 5, 2024 |
| GATA1 | 3 | Sep 20, 2022 |
| GATA2 | 11 | Dec 21, 2023 |
| GATA3 | 1 | Dec 21, 2023 |
| GATAD1 | 6 | Dec 21, 2023 |
| GATM | 1 | May 26, 2021 |
| GBA1 | 26 | Jan 19, 2024 |
| GBA2 | 9 | Jan 5, 2024 |
| GBE1 | 32 | Jan 5, 2024 |
| GBF1 | 2 | Dec 21, 2023 |
| GCDH | 3 | May 23, 2018 |
| GCLC | 7 | Jan 5, 2024 |
| GCLC-AS1 | 1 | Sep 15, 2023 |
| GDAP1 | 11 | Jan 5, 2024 |
| GDF1 | 2 | May 26, 2021 |
| GDF2 | 1 | Dec 21, 2023 |
| GEMIN5 | 2 | Jul 18, 2018 |
| GFAP | 18 | Dec 21, 2023 |
| GFER | 6 | May 23, 2018 |
| GFI1 | 3 | Dec 21, 2023 |
| GFM1 | 12 | Dec 21, 2023 |
| GFPT1 | 3 | Dec 21, 2023 |
| GGA3 | 1 | Dec 21, 2023 |
| GH-LCR | 11 | Dec 21, 2023 |
| GHR | 2 | Feb 28, 2018 |
| GIGYF2 | 1 | Dec 21, 2023 |
| GJB1 | 7 | Dec 21, 2023 |
| GJB2 | 6 | Dec 21, 2023 |
| GJB3 | 1 | Sep 15, 2023 |
| GJB6 | 2 | Dec 21, 2023 |
| GJC2 | 6 | Jan 5, 2024 |
| GJD2-DT | 2 | Dec 21, 2023 |
| GLA | 13 | Jan 5, 2024 |
| GLB1 | 18 | Jan 5, 2024 |
| GLDC | 1 | Dec 21, 2023 |
| GLIS2 | 1 | Dec 21, 2023 |
| GLUL | 1 | Jul 7, 2022 |
| GM2A | 7 | May 23, 2018 |
| GMPPA | 4 | Dec 21, 2023 |
| GMPPB | 3 | May 19, 2023 |
| GNB4 | 4 | Dec 21, 2023 |
| GNB5 | 1 | Dec 21, 2023 |
| GNE | 6 | Jan 5, 2024 |
| GNPAT | 5 | May 23, 2018 |
| GNPTAB | 32 | Dec 21, 2023 |
| GNPTG | 8 | Dec 21, 2023 |
| GNS | 7 | Jul 7, 2022 |
| GOSR2 | 2 | Dec 21, 2023 |
| GPAA1 | 1 | Dec 21, 2023 |
| GPC3 | 3 | Jul 7, 2022 |
| GPD1L | 2 | Sep 15, 2023 |
| GPHN | 1 | Dec 21, 2023 |
| GPI | 14 | Jan 5, 2024 |
| GPIHBP1 | 1 | Dec 21, 2023 |
| GPR15 | 1 | Feb 28, 2018 |
| GPT2 | 1 | Dec 21, 2023 |
| GRIA3 | 1 | May 26, 2021 |
| GRIN1 | 6 | May 27, 2021 |
| GRIN2A | 6 | Dec 21, 2023 |
| GRIN2B | 3 | Dec 21, 2023 |
| GRM1 | 1 | Dec 21, 2023 |
| GRN | 13 | Dec 21, 2023 |
| GRXCR2 | 1 | Dec 21, 2023 |
| GSDME | 1 | Jan 5, 2024 |
| GSN | 2 | May 26, 2021 |
| GSR | 17 | Jan 5, 2024 |
| GSS | 20 | Jan 5, 2024 |
| GUSB | 14 | Dec 21, 2023 |
| GYG1 | 12 | Dec 21, 2023 |
| GYPC | 7 | Jan 5, 2024 |
| GYS1 | 5 | Dec 21, 2023 |
| GYS2 | 15 | Dec 21, 2023 |
| HADHA | 20 | Jan 5, 2024 |
| HADHB | 10 | Dec 21, 2023 |
| HARS1 | 9 | Jan 5, 2024 |
| HARS2 | 2 | May 23, 2018 |
| HAX1 | 7 | Jul 7, 2022 |
| HBA-LCR | 3 | Dec 21, 2023 |
| HBB | 18 | Dec 21, 2023 |
| HBD | 3 | May 26, 2021 |
| HCFC1 | 3 | Dec 21, 2023 |
| HCN1 | 1 | Dec 21, 2023 |
| HCN4 | 2 | Dec 21, 2023 |
| HDAC6 | 1 | Feb 28, 2018 |
| HDAC9 | 1 | Feb 28, 2018 |
| HERC1 | 2 | Feb 28, 2018 |
| HERC2 | 2 | Jul 18, 2018 |
| HEXA | 12 | Dec 21, 2023 |
| HEXB | 10 | Dec 21, 2023 |
| HFE | 3 | Dec 21, 2023 |
| HFE-AS1 | 1 | Mar 28, 2023 |
| HGD | 1 | Jun 9, 2022 |
| HGSNAT | 10 | Dec 21, 2023 |
| HIBCH | 2 | May 23, 2018 |
| HIC2 | 1 | Jul 18, 2018 |
| HIF1A | 2 | Dec 21, 2023 |
| HIF1A-AS3 | 2 | Dec 21, 2023 |
| HIF3A | 1 | Dec 21, 2023 |
| HK1 | 16 | Dec 21, 2023 |
| HLCS | 1 | Feb 28, 2018 |
| HMBS | 18 | Jan 5, 2024 |
| HMOX1 | 7 | Jan 5, 2024 |
| HNF1B | 3 | Dec 21, 2023 |
| HNRNPA1 | 1 | Dec 21, 2023 |
| HNRNPCL1 | 1 | Feb 28, 2018 |
| HNRNPDL | 3 | Jan 5, 2024 |
| HNRNPU | 1 | May 23, 2018 |
| HNRNPUL2-BSCL2 | 10 | Dec 21, 2023 |
| HOGA1 | 2 | May 26, 2021 |
| HOXA2 | 2 | Dec 21, 2023 |
| HOXB13 | 2 | Dec 21, 2023 |
| HPSE2 | 1 | Feb 28, 2018 |
| HRAS | 1 | May 26, 2021 |
| HSALR1 | 50 | Jan 5, 2024 |
| HSD17B4 | 24 | Dec 21, 2023 |
| HSD3B7 | 5 | Dec 21, 2023 |
| HSPB1 | 6 | Jan 5, 2024 |
| HSPB3 | 1 | May 26, 2021 |
| HSPD1 | 2 | Dec 21, 2023 |
| HSPG2 | 2 | Jul 18, 2018 |
| HTRA2 | 2 | Dec 21, 2023 |
| HUWE1 | 1 | Feb 28, 2018 |
| HYAL1 | 4 | Jul 7, 2022 |
| HYCC1 | 10 | Jan 5, 2024 |
| HYDIN | 1 | Feb 28, 2018 |
| IAH1 | 2 | Dec 21, 2023 |
| IARS2 | 8 | Dec 21, 2023 |
| IBA57 | 10 | Dec 21, 2023 |
| ICOS | 1 | May 26, 2021 |
| IDH2 | 4 | May 23, 2018 |
| IDH2-DT | 1 | May 23, 2018 |
| IDS | 10 | May 23, 2018 |
| IDUA | 33 | Dec 21, 2023 |
| IER3IP1 | 1 | Jul 7, 2022 |
| IFIH1 | 3 | Dec 21, 2023 |
| IFNAR2-IL10RB | 6 | Dec 21, 2023 |
| IFT172 | 1 | Dec 21, 2023 |
| IGF1R | 1 | Feb 28, 2018 |
| IGHMBP2 | 27 | Jan 5, 2024 |
| IGLL1 | 2 | May 26, 2021 |
| IKBKB | 2 | Feb 28, 2018 |
| IKBKG | 3 | May 26, 2021 |
| IL10 | 1 | Dec 21, 2023 |
| IL10RA | 1 | Dec 21, 2023 |
| IL10RB | 6 | Dec 21, 2023 |
| IL19 | 1 | Dec 21, 2023 |
| IL1RN | 1 | Jul 7, 2022 |
| IL21R | 2 | Dec 21, 2023 |
| IL21R-AS1 | 2 | Dec 21, 2023 |
| IL36RN | 3 | Jan 5, 2024 |
| IL7R | 1 | May 26, 2021 |
| INF2 | 8 | Dec 21, 2023 |
| INSL6 | 1 | Jul 16, 2018 |
| INVS | 3 | Dec 21, 2023 |
| ISCU | 7 | May 23, 2018 |
| ISG15 | 4 | Dec 21, 2023 |
| ITGA7 | 6 | Dec 21, 2023 |
| ITGB2 | 6 | Dec 21, 2023 |
| IVD | 1 | Jul 7, 2022 |
| JAG1 | 6 | Dec 21, 2023 |
| JAG2 | 2 | Dec 21, 2023 |
| JAK2 | 1 | Jul 16, 2018 |
| JAK3 | 1 | Dec 21, 2023 |
| JPH2 | 1 | Dec 21, 2023 |
| JUP | 4 | Dec 21, 2023 |
| KANSL1 | 5 | Dec 21, 2023 |
| KARS1 | 13 | Jan 5, 2024 |
| KATNIP | 1 | Jan 5, 2024 |
| KBTBD13 | 1 | Dec 21, 2023 |
| KCNA1 | 1 | Dec 21, 2023 |
| KCNB1 | 1 | May 26, 2021 |
| KCNC1 | 3 | Dec 21, 2023 |
| KCNE1 | 5 | Dec 21, 2023 |
| KCNE3 | 2 | May 26, 2021 |
| KCNH2 | 16 | Dec 21, 2023 |
| KCNH5 | 2 | Dec 21, 2023 |
| KCNJ10 | 5 | Jan 5, 2024 |
| KCNJ18 | 1 | Dec 21, 2023 |
| KCNJ2 | 4 | Dec 21, 2023 |
| KCNJ5 | 1 | Dec 21, 2023 |
| KCNJ8 | 1 | Dec 21, 2023 |
| KCNK3 | 1 | Feb 28, 2018 |
| KCNN4 | 2 | Dec 21, 2023 |
| KCNQ1 | 23 | Dec 21, 2023 |
| KCNQ2 | 10 | Dec 21, 2023 |
| KCNQ3 | 6 | Dec 21, 2023 |
| KCNT1 | 3 | May 23, 2022 |
| KCTD7 | 8 | May 26, 2021 |
| KDM5C | 1 | May 26, 2021 |
| KDM6A | 2 | Dec 21, 2023 |
| KIAA0586 | 2 | Feb 28, 2018 |
| KIF11 | 1 | Feb 28, 2018 |
| KIF12 | 1 | Dec 21, 2023 |
| KIF1A | 13 | Jan 5, 2024 |
| KIF1B | 12 | Dec 21, 2023 |
| KIF22 | 1 | Feb 28, 2018 |
| KIF23 | 15 | Dec 21, 2023 |
| KIF23-AS1 | 1 | Jul 7, 2022 |
| KIF5A | 6 | Dec 21, 2023 |
| KIT | 4 | Dec 21, 2023 |
| KITLG | 1 | Dec 21, 2023 |
| KL | 1 | Dec 21, 2023 |
| KLF1 | 9 | Jan 5, 2024 |
| KLHL3 | 1 | Dec 21, 2023 |
| KLHL40 | 6 | Dec 21, 2023 |
| KLHL41 | 3 | Dec 21, 2023 |
| KLLN | 5 | Jan 5, 2024 |
| KMT2B | 1 | Jul 18, 2018 |
| KMT2D | 1 | Feb 28, 2018 |
| KPTN | 1 | Feb 28, 2018 |
| KRAS | 1 | May 26, 2021 |
| KRIT1 | 1 | Dec 21, 2023 |
| KY | 1 | May 26, 2021 |
| L1CAM | 6 | Dec 21, 2023 |
| L2HGDH | 7 | May 23, 2018 |
| LAMA1 | 5 | Dec 21, 2023 |
| LAMA2 | 89 | Jan 5, 2024 |
| LAMA4 | 10 | Dec 21, 2023 |
| LAMA5 | 2 | Dec 21, 2023 |
| LAMB2 | 6 | Dec 21, 2023 |
| LAMC3 | 1 | Feb 28, 2018 |
| LAMP2 | 8 | Jul 7, 2022 |
| LARGE1 | 5 | Jan 5, 2024 |
| LARS2 | 15 | Dec 21, 2023 |
| LARS2-AS1 | 5 | May 23, 2018 |
| LDB3 | 9 | Dec 21, 2023 |
| LDHA | 16 | Jan 5, 2024 |
| LDLR | 62 | Jan 5, 2024 |
| LDLR-AS1 | 2 | May 26, 2021 |
| LDLRAP1 | 2 | Jul 7, 2022 |
| LGI1 | 2 | Dec 21, 2023 |
| LIAS | 4 | Dec 21, 2023 |
| LIG4 | 5 | Dec 21, 2023 |
| LIPA | 10 | Dec 21, 2023 |
| LIPT2 | 1 | May 26, 2021 |
| LITAF | 2 | Dec 21, 2023 |
| LIX1L-AS1 | 1 | Dec 21, 2023 |
| LMF1 | 1 | Dec 21, 2023 |
| LMNA | 25 | Jan 5, 2024 |
| LOC100130587 | 2 | May 26, 2021 |
| LOC100130987 | 5 | Jul 7, 2022 |
| LOC100506071 | 1 | Dec 21, 2023 |
| LOC101448202 | 15 | Jan 5, 2024 |
| LOC101927055 | 11 | Dec 21, 2023 |
| LOC101928008 | 6 | Dec 21, 2023 |
| LOC101928965 | 1 | Dec 21, 2023 |
| LOC101929305 | 1 | Dec 21, 2023 |
| LOC102723324 | 1 | May 26, 2021 |
| LOC102723566 | 18 | Jan 5, 2024 |
| LOC102723692 | 2 | Dec 21, 2023 |
| LOC102724058 | 10 | Dec 21, 2023 |
| LOC105369149 | 2 | Dec 21, 2023 |
| LOC105370890 | 1 | Dec 21, 2023 |
| LOC105371566 | 2 | Dec 21, 2023 |
| LOC106050102 | 7 | May 23, 2018 |
| LOC106099062 | 12 | Dec 21, 2023 |
| LOC106099063 | 1 | May 26, 2021 |
| LOC106501712 | 1 | Dec 21, 2023 |
| LOC106627981 | 24 | Jan 19, 2024 |
| LOC106694316 | 2 | Jul 7, 2022 |
| LOC106780803 | 4 | Dec 21, 2023 |
| LOC107133510 | 18 | Dec 21, 2023 |
| LOC107303340 | 2 | Dec 21, 2023 |
| LOC107303343 | 1 | May 26, 2021 |
| LOC107988032 | 4 | Dec 21, 2023 |
| LOC108281160 | 1 | Feb 28, 2018 |
| LOC108491825 | 1 | Dec 21, 2023 |
| LOC109115964 | 1 | Dec 21, 2023 |
| LOC109610631 | 1 | Dec 21, 2023 |
| LOC109951029 | 1 | May 26, 2021 |
| LOC110006319 | 6 | May 19, 2023 |
| LOC110121269 | 3 | Dec 21, 2023 |
| LOC110121288 | 3 | May 26, 2021 |
| LOC110121486 | 1 | Sep 15, 2023 |
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| LOC111674472 | 19 | Jan 5, 2024 |
| LOC111674475 | 14 | Jan 5, 2024 |
| LOC111674477 | 8 | Jan 5, 2024 |
| LOC112486223 | 3 | May 26, 2021 |
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| LOC112543470 | 1 | May 26, 2021 |
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| LOC113633877 | 1 | May 26, 2021 |
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| LOC125177393 | 1 | Dec 21, 2023 |
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| LOC126806430 | 1 | Jul 7, 2022 |
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| LOC126806583 | 1 | May 26, 2021 |
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| LOC126862571 | 13 | Jan 5, 2024 |
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| LOC126862738 | 1 | May 23, 2018 |
| LOC126862853 | 1 | Feb 28, 2018 |
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| LOC126862987 | 1 | Dec 21, 2023 |
| LOC126863087 | 1 | Jul 7, 2022 |
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| LOC129930561 | 1 | Dec 21, 2023 |
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| LOC129932486 | 1 | Dec 21, 2023 |
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| LOC129932912 | 1 | May 23, 2018 |
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| LOC129933770 | 1 | May 23, 2018 |
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| LOC129935172 | 1 | May 23, 2018 |
| LOC129935183 | 1 | Jul 7, 2022 |
| LOC129935184 | 2 | Dec 21, 2023 |
| LOC129935185 | 1 | May 26, 2021 |
| LOC129936031 | 1 | May 23, 2018 |
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| LOC129936033 | 1 | May 23, 2018 |
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| LOC129993885 | 2 | May 23, 2018 |
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| LOC129994848 | 1 | Feb 28, 2018 |
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| LOC129995144 | 1 | Feb 28, 2018 |
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| LOC129997861 | 1 | Dec 21, 2023 |
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| LOC129998342 | 3 | May 23, 2018 |
| LOC129998343 | 2 | May 28, 2021 |
| LOC129998533 | 1 | May 23, 2018 |
| LOC129998833 | 1 | Jul 7, 2022 |
| LOC129999289 | 1 | Dec 21, 2023 |
| LOC129999940 | 1 | May 26, 2021 |
| LOC130000170 | 3 | Dec 21, 2023 |
| LOC130000286 | 1 | May 26, 2021 |
| LOC130000316 | 2 | Dec 21, 2023 |
| LOC130000622 | 2 | Dec 21, 2023 |
| LOC130000896 | 1 | May 23, 2018 |
| LOC130001334 | 1 | Dec 21, 2023 |
| LOC130001683 | 3 | Dec 21, 2023 |
| LOC130001862 | 2 | May 23, 2018 |
| LOC130002059 | 4 | Jun 9, 2022 |
| LOC130002704 | 1 | Dec 21, 2023 |
| LOC130002899 | 2 | May 23, 2018 |
| LOC130003093 | 1 | Dec 21, 2023 |
| LOC130003343 | 1 | May 26, 2021 |
| LOC130003598 | 2 | May 23, 2018 |
| LOC130004273 | 3 | Oct 31, 2017 |
| LOC130004411 | 1 | Feb 28, 2018 |
| LOC130005193 | 1 | Dec 21, 2023 |
| LOC130005543 | 1 | May 23, 2018 |
| LOC130005549 | 5 | May 23, 2018 |
| LOC130005671 | 1 | May 23, 2018 |
| LOC130007026 | 1 | May 23, 2018 |
| LOC130009266 | 1 | Dec 21, 2023 |
| LOC130009366 | 1 | May 23, 2018 |
| LOC130009913 | 5 | May 26, 2021 |
| LOC130055542 | 1 | Dec 21, 2023 |
| LOC130055658 | 1 | Jul 7, 2022 |
| LOC130056217 | 2 | Dec 21, 2023 |
| LOC130056709 | 1 | May 26, 2021 |
| LOC130056851 | 1 | Dec 21, 2023 |
| LOC130056931 | 4 | Dec 21, 2023 |
| LOC130056971 | 1 | Jul 7, 2022 |
| LOC130056991 | 1 | May 26, 2021 |
| LOC130058158 | 1 | May 23, 2018 |
| LOC130058203 | 2 | May 23, 2018 |
| LOC130058352 | 2 | May 23, 2018 |
| LOC130058658 | 1 | Dec 21, 2023 |
| LOC130058713 | 1 | Jul 7, 2022 |
| LOC130059131 | 2 | Dec 21, 2023 |
| LOC130059156 | 2 | May 23, 2018 |
| LOC130059290 | 1 | Oct 31, 2017 |
| LOC130059394 | 1 | Feb 28, 2018 |
| LOC130059498 | 1 | Dec 21, 2023 |
| LOC130059718 | 1 | Dec 21, 2023 |
| LOC130059751 | 1 | Dec 21, 2023 |
| LOC130059818 | 1 | Jul 7, 2022 |
| LOC130060041 | 1 | Dec 21, 2023 |
| LOC130060303 | 2 | Jul 7, 2022 |
| LOC130060311 | 1 | May 23, 2018 |
| LOC130060888 | 1 | Dec 21, 2023 |
| LOC130060959 | 3 | Dec 21, 2023 |
| LOC130060994 | 1 | May 23, 2018 |
| LOC130062628 | 1 | Feb 28, 2018 |
| LOC130062899 | 2 | Dec 21, 2023 |
| LOC130063288 | 1 | May 23, 2018 |
| LOC130063529 | 1 | May 26, 2021 |
| LOC130063673 | 2 | Dec 21, 2023 |
| LOC130064021 | 1 | Jul 7, 2022 |
| LOC130064281 | 2 | Dec 21, 2023 |
| LOC130064376 | 1 | May 23, 2018 |
| LOC130064387 | 2 | May 23, 2018 |
| LOC130064454 | 1 | Feb 28, 2018 |
| LOC130064595 | 1 | May 23, 2018 |
| LOC130065345 | 10 | Dec 21, 2023 |
| LOC130065679 | 1 | May 26, 2021 |
| LOC130065974 | 1 | May 23, 2018 |
| LOC130066166 | 1 | Dec 21, 2023 |
| LOC130066788 | 1 | Dec 21, 2023 |
| LOC130067862 | 8 | May 26, 2021 |
| LOC130068281 | 1 | Dec 21, 2023 |
| LOC130068494 | 1 | May 23, 2018 |
| LOC130068621 | 1 | May 23, 2018 |
| LOC132089454 | 1 | May 23, 2018 |
| LOC132089829 | 1 | Jul 7, 2022 |
| LOC132090059 | 1 | May 23, 2018 |
| LOC132090450 | 1 | May 26, 2021 |
| LONP1 | 1 | Feb 28, 2018 |
| LOX | 1 | Dec 21, 2023 |
| LOXHD1 | 5 | Dec 21, 2023 |
| LOXL3 | 1 | Dec 21, 2023 |
| LPIN1 | 5 | Dec 21, 2023 |
| LPIN2 | 8 | Dec 21, 2023 |
| LPL | 2 | Dec 21, 2023 |
| LRBA | 21 | Dec 21, 2023 |
| LRP10 | 1 | Dec 21, 2023 |
| LRP2 | 1 | Dec 21, 2023 |
| LRP4 | 1 | Dec 21, 2023 |
| LRPPRC | 11 | May 23, 2018 |
| LRRC37A2 | 2 | Dec 21, 2023 |
| LRRC56 | 1 | May 26, 2021 |
| LRRC8A | 2 | May 26, 2021 |
| LRSAM1 | 16 | Jan 5, 2024 |
| LRTOMT | 3 | Dec 21, 2023 |
| LTBP3 | 2 | Dec 21, 2023 |
| LYRM4 | 2 | May 23, 2018 |
| LYRM7 | 1 | May 23, 2018 |
| LYST | 32 | Jan 5, 2024 |
| LYZ | 1 | May 26, 2021 |
| LZTR1 | 4 | Dec 21, 2023 |
| MAF | 3 | Dec 21, 2023 |
| MAGED2 | 1 | Dec 21, 2023 |
| MAGT1 | 1 | Dec 21, 2023 |
| MALT1 | 2 | Dec 21, 2023 |
| MAN1B1 | 1 | Feb 28, 2018 |
| MAN2B1 | 30 | Jan 5, 2024 |
| MANBA | 17 | May 23, 2018 |
| MAP2K1 | 3 | Dec 21, 2023 |
| MAP2K2 | 7 | Dec 21, 2023 |
| MAP3K20 | 1 | Dec 21, 2023 |
| MAP3K20-AS1 | 1 | Dec 21, 2023 |
| MAPKBP1 | 1 | Dec 21, 2023 |
| MAPT | 1 | Dec 21, 2023 |
| MARK2 | 1 | Feb 28, 2018 |
| MARS1 | 9 | Jan 5, 2024 |
| MARS2 | 2 | May 23, 2018 |
| MARVELD2 | 1 | Dec 21, 2023 |
| MASP1 | 2 | Feb 28, 2018 |
| MASP2 | 1 | Feb 28, 2018 |
| MATR3 | 2 | Jul 7, 2022 |
| MBD5 | 9 | Dec 21, 2023 |
| MC1R | 5 | Dec 21, 2023 |
| MCCC1 | 1 | Dec 21, 2023 |
| MCM2 | 1 | Dec 21, 2023 |
| MCM3AP | 3 | Dec 21, 2023 |
| MCM3AP-AS1 | 2 | Dec 21, 2023 |
| MCM7 | 1 | May 26, 2021 |
| MCOLN1 | 11 | Jul 7, 2022 |
| MCPH1 | 1 | Feb 28, 2018 |
| MECP2 | 10 | Dec 21, 2023 |
| MECR | 1 | Dec 21, 2023 |
| MED23 | 1 | Feb 28, 2018 |
| MED25 | 6 | Jul 7, 2022 |
| MEFV | 19 | Jan 5, 2024 |
| MEGF10 | 6 | Jan 5, 2024 |
| MEN1 | 1 | Dec 21, 2023 |
| MFAP5 | 2 | May 26, 2021 |
| MFF-DT | 9 | Dec 21, 2023 |
| MFN2 | 13 | Dec 21, 2023 |
| MFSD8 | 8 | Dec 21, 2023 |
| MGAT2 | 1 | May 26, 2021 |
| MGME1 | 3 | May 23, 2018 |
| MHRT | 6 | Dec 21, 2023 |
| MICU1 | 1 | May 23, 2018 |
| MIF4GD-DT | 3 | May 26, 2021 |
| MILR1 | 5 | May 23, 2018 |
| MIR3936HG | 1 | Dec 21, 2023 |
| MITF | 2 | Dec 21, 2023 |
| MKKS | 2 | Dec 21, 2023 |
| MKS1 | 3 | Dec 21, 2023 |
| MLC1 | 1 | Feb 28, 2018 |
| MLH1 | 128 | Jan 5, 2024 |
| MLH3 | 30 | Jul 7, 2022 |
| MMAB | 1 | Dec 21, 2023 |
| MMACHC | 17 | Jan 5, 2024 |
| MME | 1 | Dec 21, 2023 |
| MMUT | 2 | Dec 21, 2023 |
| MOCS1 | 4 | Dec 21, 2023 |
| MOCS2 | 2 | Dec 21, 2023 |
| MORC2 | 1 | Dec 21, 2023 |
| MPC1 | 3 | May 23, 2018 |
| MPO | 2 | Jul 7, 2022 |
| MPV17 | 6 | Jan 5, 2024 |
| MPZ | 12 | Jan 5, 2024 |
| MPZL2 | 1 | Dec 21, 2023 |
| MRAS | 1 | Dec 21, 2023 |
| MRE11 | 1 | Dec 21, 2023 |
| MRPL3 | 3 | May 23, 2018 |
| MRPL44 | 3 | May 23, 2018 |
| MRPS16 | 2 | May 23, 2018 |
| MRPS22 | 2 | May 23, 2018 |
| MSC-AS1 | 1 | May 26, 2021 |
| MSH2 | 113 | Jan 5, 2024 |
| MSH3 | 4 | Dec 21, 2023 |
| MSH6 | 161 | Jan 5, 2024 |
| MSTO1 | 2 | Dec 21, 2023 |
| MTFMT | 12 | May 23, 2018 |
| MTM1 | 1 | May 23, 2022 |
| MTMR2 | 7 | Jan 5, 2024 |
| MTO1 | 10 | Dec 21, 2023 |
| MTOR | 1 | Dec 21, 2023 |
| MTPAP | 4 | May 23, 2018 |
| MTRFR | 8 | Jan 5, 2024 |
| MTTP | 8 | Jan 5, 2024 |
| MUSK | 1 | Jul 7, 2022 |
| MUTYH | 16 | Jan 5, 2024 |
| MVK | 13 | Jan 5, 2024 |
| MVP-DT | 3 | May 19, 2023 |
| MYBPC3 | 46 | Jan 5, 2024 |
| MYH11 | 14 | Dec 21, 2023 |
| MYH14 | 16 | Dec 21, 2023 |
| MYH2 | 7 | Jul 7, 2022 |
| MYH6 | 10 | Dec 21, 2023 |
| MYH7 | 33 | Jan 5, 2024 |
| MYH9 | 3 | Dec 21, 2023 |
| MYHAS | 7 | Jul 7, 2022 |
| MYL2 | 2 | Dec 21, 2023 |
| MYL3 | 3 | Dec 21, 2023 |
| MYLK | 12 | Dec 21, 2023 |
| MYLK-AS1 | 2 | Dec 21, 2023 |
| MYLK2 | 2 | Dec 21, 2023 |
| MYLK3 | 2 | Dec 21, 2023 |
| MYO15A | 8 | Dec 21, 2023 |
| MYO18B | 16 | Dec 21, 2023 |
| MYO18B-AS1 | 3 | May 26, 2021 |
| MYO1E | 1 | Dec 21, 2023 |
| MYO3A | 1 | Dec 21, 2023 |
| MYO6 | 3 | Dec 21, 2023 |
| MYO7A | 5 | Jan 5, 2024 |
| MYOT | 5 | Dec 21, 2023 |
| MYOZ2 | 3 | Jul 7, 2022 |
| MYPN | 15 | Jan 5, 2024 |
| NAF1 | 1 | Dec 21, 2023 |
| NAGA | 16 | Jan 5, 2024 |
| NAGLU | 12 | Dec 21, 2023 |
| NARS2 | 1 | Dec 21, 2023 |
| NBN | 4 | Dec 21, 2023 |
| NCAPH2 | 12 | Jan 5, 2024 |
| NCF2 | 2 | May 26, 2021 |
| NCF4 | 3 | Dec 21, 2023 |
| NCF4-AS1 | 1 | Sep 15, 2023 |
| NDE1 | 5 | Dec 21, 2023 |
| NDRG1 | 12 | Jan 5, 2024 |
| NDST1 | 2 | Feb 28, 2018 |
| NDUFA1 | 1 | May 23, 2018 |
| NDUFA10 | 7 | May 23, 2018 |
| NDUFA12 | 1 | May 23, 2018 |
| NDUFA2 | 2 | Dec 21, 2023 |
| NDUFA9 | 4 | May 23, 2018 |
| NDUFAF1 | 8 | May 23, 2018 |
| NDUFAF2 | 2 | May 23, 2018 |
| NDUFAF4 | 4 | May 23, 2018 |
| NDUFAF5 | 6 | May 23, 2018 |
| NDUFAF6 | 9 | Dec 21, 2023 |
| NDUFB3 | 1 | May 23, 2018 |
| NDUFB9 | 3 | May 23, 2018 |
| NDUFS1 | 15 | Dec 21, 2023 |
| NDUFS2 | 3 | May 23, 2018 |
| NDUFS3 | 1 | May 23, 2018 |
| NDUFS4 | 4 | May 23, 2018 |
| NDUFS6 | 1 | May 23, 2018 |
| NDUFS7 | 5 | May 23, 2018 |
| NDUFS8 | 2 | Dec 21, 2023 |
| NDUFV1 | 6 | Dec 21, 2023 |
| NDUFV2 | 2 | May 23, 2018 |
| NEB | 49 | Jan 5, 2024 |
| NECAP1 | 1 | May 26, 2021 |
| NEFH | 6 | Dec 21, 2023 |
| NEFL | 4 | Dec 21, 2023 |
| NEK1 | 1 | Dec 21, 2023 |
| NEU1 | 7 | Jan 5, 2024 |
| NEXMIF | 1 | Dec 21, 2023 |
| NEXN | 5 | Jul 7, 2022 |
| NF1 | 31 | Dec 21, 2023 |
| NF2 | 2 | May 26, 2021 |
| NFU1 | 4 | May 23, 2018 |
| NGF | 2 | Jan 5, 2024 |
| NGF-AS1 | 2 | Jan 5, 2024 |
| NGLY1 | 2 | Dec 21, 2023 |
| NHEJ1 | 1 | Jul 7, 2022 |
| NHLRC1 | 8 | Dec 21, 2023 |
| NHP2 | 2 | Jan 5, 2024 |
| NIPA1 | 2 | May 23, 2022 |
| NIPSNAP3B | 3 | Jan 5, 2024 |
| NKX2-5 | 1 | Feb 28, 2018 |
| NLRC4 | 3 | May 26, 2021 |
| NLRP12 | 10 | Jan 5, 2024 |
| NLRP3 | 7 | Jan 5, 2024 |
| NOD2 | 16 | Jan 5, 2024 |
| NOTCH1 | 22 | Jan 5, 2024 |
| NOTCH2 | 6 | Dec 21, 2023 |
| NOTCH3 | 40 | Dec 21, 2023 |
| NPC1 | 48 | Dec 21, 2023 |
| NPC2 | 3 | Jan 5, 2024 |
| NPHP1 | 4 | Dec 21, 2023 |
| NPHP3 | 7 | Dec 21, 2023 |
| NPHP3-ACAD11 | 7 | Dec 21, 2023 |
| NPHP3-AS1 | 1 | Dec 21, 2023 |
| NPHP4 | 16 | Jan 5, 2024 |
| NPHS1 | 2 | Dec 21, 2023 |
| NPRL2 | 1 | Dec 21, 2023 |
| NPRL3 | 4 | Dec 21, 2023 |
| NR1H3 | 1 | May 23, 2018 |
| NR1H4 | 5 | Dec 21, 2023 |
| NR2F1 | 2 | Feb 28, 2018 |
| NR2F1-AS1 | 1 | Feb 28, 2018 |
| NR2F2 | 1 | Feb 28, 2018 |
| NRL | 16 | May 23, 2018 |
| NRROS | 2 | Dec 21, 2023 |
| NRXN1 | 8 | Sep 15, 2023 |
| NSD2 | 1 | Feb 28, 2018 |
| NSUN6 | 2 | May 26, 2021 |
| NT5C3A | 9 | Jan 5, 2024 |
| NTHL1 | 2 | Dec 21, 2023 |
| NTRK1 | 12 | Dec 21, 2023 |
| NUBPL | 7 | Dec 21, 2023 |
| NUP160 | 1 | Dec 21, 2023 |
| NUP85 | 1 | Dec 21, 2023 |
| OAT | 2 | Dec 21, 2023 |
| OCLN | 3 | Jul 7, 2022 |
| OFD1 | 3 | Dec 21, 2023 |
| OGDH | 10 | May 23, 2018 |
| OPA1 | 25 | Jan 5, 2024 |
| OPA1-AS1 | 1 | May 23, 2018 |
| OPA3 | 1 | May 23, 2018 |
| OPTN | 3 | Dec 21, 2023 |
| OR10Z1 | 4 | Dec 21, 2023 |
| ORC1 | 1 | Feb 28, 2018 |
| OTC | 1 | Dec 21, 2023 |
| OTOA | 2 | Dec 21, 2023 |
| OTOF | 3 | Dec 21, 2023 |
| OTOG | 8 | Dec 21, 2023 |
| OTOGL | 1 | Dec 21, 2023 |
| OXCT1 | 5 | May 23, 2018 |
| OXCT1-AS1 | 1 | May 23, 2018 |
| OXTR | 2 | Jul 7, 2022 |
| P3H2 | 1 | Feb 28, 2018 |
| P4HTM | 1 | Dec 21, 2023 |
| PACS2 | 1 | Dec 21, 2023 |
| PAFAH1B1 | 2 | Dec 21, 2023 |
| PAH | 7 | Dec 21, 2023 |
| PAK3 | 2 | Dec 21, 2023 |
| PALB2 | 6 | Dec 21, 2023 |
| PANK2 | 19 | Dec 21, 2023 |
| PAX7 | 1 | Dec 21, 2023 |
| PC | 7 | May 23, 2018 |
| PCCA | 1 | Dec 21, 2023 |
| PCCB | 1 | Dec 21, 2023 |
| PCDH12 | 1 | Dec 21, 2023 |
| PCDH15 | 8 | Dec 21, 2023 |
| PCK2 | 16 | May 23, 2018 |
| PCSK9 | 6 | Jan 5, 2024 |
| PDE6D | 1 | Dec 21, 2023 |
| PDGFRA | 1 | Dec 21, 2023 |
| PDHA1 | 2 | May 23, 2018 |
| PDHB | 5 | May 23, 2018 |
| PDHX | 18 | Dec 21, 2023 |
| PDK3 | 1 | May 26, 2021 |
| PDP1 | 1 | May 23, 2018 |
| PDSS1 | 6 | Jul 7, 2022 |
| PDSS2 | 9 | Dec 21, 2023 |
| PDYN | 3 | Dec 21, 2023 |
| PDYN-AS1 | 3 | Dec 21, 2023 |
| PDZD7 | 1 | Dec 21, 2023 |
| PDZD9 | 6 | May 23, 2018 |
| PEPD | 7 | Dec 21, 2023 |
| PEX1 | 29 | Dec 21, 2023 |
| PEX10 | 14 | Jan 5, 2024 |
| PEX11B | 1 | May 23, 2018 |
| PEX12 | 3 | May 26, 2021 |
| PEX13 | 5 | Dec 21, 2023 |
| PEX14 | 10 | Dec 21, 2023 |
| PEX16 | 7 | Dec 21, 2023 |
| PEX19 | 2 | May 23, 2018 |
| PEX2 | 4 | Dec 21, 2023 |
| PEX26 | 7 | Jan 5, 2024 |
| PEX3 | 6 | Dec 21, 2023 |
| PEX5 | 10 | Dec 21, 2023 |
| PEX6 | 22 | Dec 21, 2023 |
| PEX7 | 12 | Dec 21, 2023 |
| PFKM | 25 | Jan 5, 2024 |
| PGAM2 | 7 | Jul 7, 2022 |
| PGAP3 | 1 | Feb 28, 2018 |
| PGBD3 | 2 | Jan 5, 2024 |
| PGK1 | 9 | Dec 21, 2023 |
| PGM1 | 20 | Dec 21, 2023 |
| PHGDH | 5 | Dec 21, 2023 |
| PHKA1 | 10 | Dec 21, 2023 |
| PHKA1-AS1 | 1 | May 23, 2018 |
| PHKA2 | 12 | Dec 21, 2023 |
| PHKB | 26 | Jan 5, 2024 |
| PHKG2 | 2 | Jul 7, 2022 |
| PHLPP1 | 2 | Feb 28, 2018 |
| PHYH | 15 | Jan 5, 2024 |
| PIEZO1 | 137 | Jan 5, 2024 |
| PIEZO2 | 3 | Feb 28, 2018 |
| PIGA | 3 | Dec 21, 2023 |
| PIGG | 2 | Dec 21, 2023 |
| PIGM | 1 | Dec 21, 2023 |
| PIGN | 2 | Dec 21, 2023 |
| PIGO | 3 | Dec 21, 2023 |
| PIGQ | 1 | Dec 21, 2023 |
| PIGS | 2 | Dec 21, 2023 |
| PIGT | 3 | Dec 21, 2023 |
| PIGU | 1 | Dec 21, 2023 |
| PIGV | 5 | Dec 21, 2023 |
| PIH1D2 | 2 | May 23, 2018 |
| PIK3CD | 4 | May 26, 2021 |
| PIK3R1 | 3 | May 26, 2021 |
| PINK1 | 3 | Dec 21, 2023 |
| PINK1-AS | 3 | Dec 21, 2023 |
| PITPNM3 | 1 | Feb 28, 2018 |
| PJVK | 2 | Dec 21, 2023 |
| PKD1 | 18 | Dec 21, 2023 |
| PKD2 | 2 | Dec 21, 2023 |
| PKD2L2-DT | 5 | Dec 21, 2023 |
| PKHD1 | 43 | Jan 5, 2024 |
| PKLR | 36 | Jan 5, 2024 |
| PKP2 | 9 | Dec 21, 2023 |
| PLA2G6 | 17 | Jan 5, 2024 |
| PLCB1 | 4 | Dec 21, 2023 |
| PLCE1 | 2 | Dec 21, 2023 |
| PLCG2 | 17 | Dec 21, 2023 |
| PLCH2 | 1 | May 23, 2018 |
| PLD3 | 1 | Dec 21, 2023 |
| PLEC | 39 | Dec 21, 2023 |
| PLEKHG3 | 3 | Dec 21, 2023 |
| PLEKHG5 | 27 | Jan 5, 2024 |
| PLG | 29 | Jan 5, 2024 |
| PLN | 2 | Dec 21, 2023 |
| PLOD1 | 21 | Jan 5, 2024 |
| PLP1 | 3 | Jul 7, 2022 |
| PMM2 | 7 | Dec 21, 2023 |
| PMP2 | 1 | Dec 21, 2023 |
| PMP22 | 6 | Jan 5, 2024 |
| PMPCA | 2 | Dec 21, 2023 |
| PMS2 | 49 | Jan 5, 2024 |
| PNKD | 4 | May 23, 2018 |
| PNKP | 17 | Jan 5, 2024 |
| PNP | 1 | Dec 21, 2023 |
| PNPLA2 | 5 | Dec 21, 2023 |
| PNPLA6 | 16 | Dec 21, 2023 |
| PNPLA8 | 2 | Dec 21, 2023 |
| PNPO | 2 | Jul 7, 2022 |
| PNPT1 | 8 | Dec 21, 2023 |
| POLD1 | 2 | Dec 21, 2023 |
| POLE | 10 | Dec 21, 2023 |
| POLG | 89 | Jan 5, 2024 |
| POLG2 | 5 | May 23, 2018 |
| POLGARF | 89 | Jan 5, 2024 |
| POLR1C | 9 | May 23, 2018 |
| POLR2F | 4 | Dec 21, 2023 |
| POLR3A | 1 | Dec 21, 2023 |
| POLR3H | 2 | Jul 18, 2018 |
| POMGNT1 | 10 | Dec 21, 2023 |
| POMGNT2 | 5 | Dec 21, 2023 |
| POMK | 2 | Dec 21, 2023 |
| POMT1 | 10 | Dec 21, 2023 |
| POMT2 | 5 | Dec 21, 2023 |
| PPA2 | 1 | Dec 21, 2023 |
| PPOX | 6 | Jan 5, 2024 |
| PPT1 | 13 | Dec 21, 2023 |
| PRADX | 1 | May 23, 2018 |
| PRDM5 | 2 | Dec 21, 2023 |
| PREPL | 1 | Dec 21, 2023 |
| PRF1 | 2 | Dec 21, 2023 |
| PRICKLE1 | 5 | Jul 7, 2022 |
| PRKAG2 | 15 | Dec 21, 2023 |
| PRKCG | 1 | Dec 21, 2023 |
| PRKCSH | 1 | Dec 21, 2023 |
| PRKG1 | 3 | Dec 21, 2023 |
| PRKN | 3 | Dec 21, 2023 |
| PRNP | 2 | Dec 21, 2023 |
| PROC | 18 | Jan 5, 2024 |
| PRODH | 2 | Feb 28, 2018 |
| PROS1 | 19 | Jan 5, 2024 |
| PRRT2 | 3 | May 19, 2023 |
| PRUNE1 | 1 | Dec 21, 2023 |
| PRUNE2 | 2 | Feb 28, 2018 |
| PRX | 29 | Jan 5, 2024 |
| PSAP | 12 | Dec 21, 2023 |
| PSEN1 | 1 | Dec 21, 2023 |
| PSEN2 | 2 | Dec 21, 2023 |
| PSMB8 | 3 | Jan 5, 2024 |
| PSTPIP1 | 3 | Dec 21, 2023 |
| PTCH1 | 1 | Feb 28, 2018 |
| PTEN | 46 | Jan 5, 2024 |
| PTPN11 | 24 | Jan 5, 2024 |
| PTPRC | 1 | Dec 21, 2023 |
| PTPRO | 1 | Dec 21, 2023 |
| PTRH2 | 1 | Dec 21, 2023 |
| PTRHD1 | 1 | Dec 21, 2023 |
| PTX3 | 1 | Feb 28, 2018 |
| PUS1 | 4 | Dec 21, 2023 |
| PYGL | 24 | Jan 5, 2024 |
| PYGM | 32 | Jan 5, 2024 |
| PYROXD1 | 1 | Dec 21, 2023 |
| QARS1 | 10 | Jan 5, 2024 |
| RAB18 | 1 | Dec 21, 2023 |
| RAB33A | 11 | Dec 21, 2023 |
| RAB3GAP1 | 1 | May 26, 2021 |
| RAB9B | 3 | Jul 7, 2022 |
| RAD51B | 1 | Dec 21, 2023 |
| RAD51C | 1 | Jul 7, 2022 |
| RAD51D | 2 | Dec 21, 2023 |
| RAD51L3-RFFL | 2 | Dec 21, 2023 |
| RAF1 | 8 | Jan 5, 2024 |
| RAG1 | 5 | Dec 21, 2023 |
| RAG2 | 3 | Dec 21, 2023 |
| RANBP2 | 1 | Dec 21, 2023 |
| RAPSN | 2 | May 26, 2021 |
| RARS2 | 10 | Dec 21, 2023 |
| RASA1 | 3 | Dec 21, 2023 |
| RBCK1 | 5 | Dec 21, 2023 |
| RBM20 | 14 | Jan 5, 2024 |
| RBM8A | 1 | Dec 21, 2023 |
| REEP1 | 2 | May 26, 2021 |
| RELN | 16 | Jan 5, 2024 |
| RET | 32 | Jan 5, 2024 |
| RETREG1 | 5 | Jan 5, 2024 |
| RETREG1-AS1 | 1 | Jan 5, 2024 |
| RFT1 | 1 | Feb 28, 2018 |
| RFXANK | 1 | Dec 21, 2023 |
| RHAG | 9 | Dec 21, 2023 |
| RIC3 | 1 | Dec 21, 2023 |
| RIF1 | 6 | Jan 5, 2024 |
| RINT1 | 2 | Feb 28, 2018 |
| RIT1 | 1 | Dec 21, 2023 |
| RMND1 | 5 | Dec 21, 2023 |
| RMRP | 2 | May 26, 2021 |
| RNASE4 | 1 | Jan 5, 2024 |
| RNF14 | 1 | Dec 21, 2023 |
| RNF216 | 1 | Dec 21, 2023 |
| ROGDI | 4 | Jul 7, 2022 |
| ROR2 | 1 | Feb 28, 2018 |
| RPGRIP1L | 2 | Dec 21, 2023 |
| RPL36A-HNRNPH2 | 13 | Jan 5, 2024 |
| RPS19 | 6 | Dec 21, 2023 |
| RPS6KA3 | 1 | Feb 28, 2018 |
| RRM2B | 6 | Dec 21, 2023 |
| RS1 | 1 | Jul 7, 2022 |
| RSPH1 | 1 | Dec 21, 2023 |
| RTEL1 | 35 | Jan 5, 2024 |
| RTEL1-TNFRSF6B | 35 | Jan 5, 2024 |
| RTN2 | 6 | Jan 5, 2024 |
| RUBCN | 1 | Dec 21, 2023 |
| RXYLT1 | 1 | Dec 21, 2023 |
| RYR1 | 43 | Dec 21, 2023 |
| RYR2 | 28 | Dec 21, 2023 |
| RYR3 | 3 | Feb 28, 2018 |
| SACS | 74 | Jan 5, 2024 |
| SARS2 | 12 | May 23, 2018 |
| SBDS | 5 | Jan 5, 2024 |
| SBF1 | 42 | Jan 5, 2024 |
| SBF2 | 20 | Dec 21, 2023 |
| SBF2-AS1 | 2 | Dec 21, 2023 |
| SCARB2 | 7 | Dec 21, 2023 |
| SCN10A | 24 | Jan 5, 2024 |
| SCN11A | 13 | Jan 5, 2024 |
| SCN1A | 19 | Jan 5, 2024 |
| SCN1A-AS1 | 27 | Jan 5, 2024 |
| SCN1B | 2 | Dec 21, 2023 |
| SCN2A | 12 | Dec 21, 2023 |
| SCN3A | 2 | Feb 28, 2018 |
| SCN4A | 13 | Dec 21, 2023 |
| SCN4B | 1 | May 26, 2021 |
| SCN5A | 37 | Jan 5, 2024 |
| SCN8A | 8 | Dec 21, 2023 |
| SCN9A | 33 | Jan 5, 2024 |
| SCNN1A | 1 | Dec 21, 2023 |
| SCNN1B | 1 | Dec 21, 2023 |
| SCNN1G | 2 | Dec 21, 2023 |
| SCO1 | 1 | May 23, 2018 |
| SCO2 | 22 | Jan 5, 2024 |
| SCP2 | 11 | Sep 15, 2023 |
| SCYL1 | 1 | Dec 21, 2023 |
| SDHA | 7 | Dec 21, 2023 |
| SDHAF1 | 2 | Dec 21, 2023 |
| SDHAF2 | 1 | Dec 21, 2023 |
| SDHB | 5 | Dec 21, 2023 |
| SDHD | 2 | Dec 21, 2023 |
| SEC23A | 1 | Dec 21, 2023 |
| SEC23B | 18 | Jan 5, 2024 |
| SEC24D | 1 | Dec 21, 2023 |
| SELENON | 9 | Jan 5, 2024 |
| SEMA3E | 1 | Jul 7, 2022 |
| SEPTIN9 | 2 | Jan 5, 2024 |
| SERAC1 | 4 | May 23, 2018 |
| SERPINA1 | 6 | Dec 21, 2023 |
| SERPINB6 | 1 | Dec 21, 2023 |
| SERPINC1 | 11 | Jan 5, 2024 |
| SETBP1 | 4 | Dec 21, 2023 |
| SETX | 34 | Jan 5, 2024 |
| SFXN4 | 4 | May 23, 2018 |
| SGCA | 4 | Dec 21, 2023 |
| SGCB | 4 | Jan 5, 2024 |
| SGCD | 2 | Dec 21, 2023 |
| SGCG | 2 | Dec 21, 2023 |
| SGSH | 26 | Jan 5, 2024 |
| SH3BP2 | 10 | Dec 21, 2023 |
| SH3PXD2B | 2 | Feb 28, 2018 |
| SH3TC2 | 31 | Jan 5, 2024 |
| SHOC2 | 2 | Dec 21, 2023 |
| SIGMAR1 | 1 | Dec 21, 2023 |
| SIK1 | 1 | May 26, 2021 |
| SIL1 | 1 | Dec 21, 2023 |
| SKI | 2 | Dec 21, 2023 |
| SKIC2 | 6 | Jan 5, 2024 |
| SKIC3 | 5 | Jan 5, 2024 |
| SLC10A1 | 5 | Dec 21, 2023 |
| SLC10A2 | 4 | Dec 21, 2023 |
| SLC12A3 | 1 | Dec 21, 2023 |
| SLC12A5 | 2 | Dec 21, 2023 |
| SLC12A6 | 11 | Jan 5, 2024 |
| SLC13A5 | 1 | Dec 21, 2023 |
| SLC16A2 | 1 | May 26, 2021 |
| SLC17A5 | 11 | Jan 5, 2024 |
| SLC17A8 | 1 | Dec 21, 2023 |
| SLC19A3 | 11 | Dec 21, 2023 |
| SLC22A12 | 1 | Dec 21, 2023 |
| SLC22A4 | 1 | Dec 21, 2023 |
| SLC22A5 | 10 | Jan 5, 2024 |
| SLC25A1 | 4 | Dec 21, 2023 |
| SLC25A12 | 12 | Dec 21, 2023 |
| SLC25A13 | 3 | Dec 21, 2023 |
| SLC25A15 | 2 | Jul 7, 2022 |
| SLC25A19 | 8 | May 26, 2021 |
| SLC25A20 | 1 | May 26, 2021 |
| SLC25A22 | 3 | Dec 21, 2023 |
| SLC25A3 | 2 | May 23, 2018 |
| SLC25A4 | 3 | Dec 21, 2023 |
| SLC25A42 | 1 | Dec 21, 2023 |
| SLC25A46 | 8 | Jan 5, 2024 |
| SLC26A1 | 8 | Dec 21, 2023 |
| SLC26A2 | 1 | Feb 28, 2018 |
| SLC26A4 | 4 | Dec 21, 2023 |
| SLC26A4-AS1 | 1 | Dec 21, 2023 |
| SLC26A5 | 2 | Dec 21, 2023 |
| SLC26A5-AS1 | 4 | Jan 5, 2024 |
| SLC27A5 | 11 | Dec 21, 2023 |
| SLC2A1 | 17 | Dec 21, 2023 |
| SLC2A10 | 3 | Dec 21, 2023 |
| SLC2A2 | 7 | Dec 21, 2023 |
| SLC2A9 | 1 | Dec 21, 2023 |
| SLC33A1 | 3 | Dec 21, 2023 |
| SLC34A1 | 5 | Dec 21, 2023 |
| SLC34A3 | 2 | Dec 21, 2023 |
| SLC35A1 | 1 | May 23, 2018 |
| SLC35A2 | 2 | May 26, 2021 |
| SLC35A3 | 1 | Dec 21, 2023 |
| SLC35D1 | 1 | May 26, 2021 |
| SLC39A13 | 7 | Dec 21, 2023 |
| SLC45A2 | 1 | May 23, 2018 |
| SLC4A1 | 59 | Jan 26, 2024 |
| SLC4A4 | 3 | Dec 21, 2023 |
| SLC52A1 | 1 | Jul 7, 2022 |
| SLC52A2 | 7 | May 26, 2021 |
| SLC52A3 | 1 | Dec 21, 2023 |
| SLC5A2 | 1 | Dec 21, 2023 |
| SLC5A7 | 8 | Jan 5, 2024 |
| SLC6A13 | 1 | Feb 28, 2018 |
| SLC6A3 | 1 | Feb 28, 2018 |
| SLC6A8 | 1 | May 26, 2021 |
| SLC7A7 | 4 | Dec 21, 2023 |
| SLC7A9 | 3 | Dec 21, 2023 |
| SLC9A1 | 1 | Dec 21, 2023 |
| SLC9A3 | 1 | Feb 28, 2018 |
| SLC9A3-AS1 | 1 | Feb 28, 2018 |
| SLC9A6 | 1 | Dec 21, 2023 |
| SMAD3 | 4 | Dec 21, 2023 |
| SMAD4 | 22 | Dec 21, 2023 |
| SMAD6 | 2 | Dec 21, 2023 |
| SMARCA2 | 1 | Dec 21, 2023 |
| SMARCA4 | 1 | Dec 21, 2023 |
| SMARCAL1 | 1 | Dec 21, 2023 |
| SMC1A | 1 | Feb 28, 2018 |
| SMCHD1 | 3 | Dec 21, 2023 |
| SMPD1 | 32 | Jan 5, 2024 |
| SNAP29 | 7 | Jul 7, 2022 |
| SNAPC5 | 1 | May 26, 2021 |
| SNHG14 | 1 | May 26, 2021 |
| SNTA1 | 2 | Jul 7, 2022 |
| SOD1 | 8 | Dec 21, 2023 |
| SOD1-DT | 1 | May 26, 2021 |
| SON | 1 | Feb 28, 2018 |
| SORD | 2 | Dec 21, 2023 |
| SOS1 | 9 | Dec 21, 2023 |
| SOS2 | 1 | Dec 21, 2023 |
| SOX10 | 4 | Dec 21, 2023 |
| SPART | 5 | Sep 15, 2023 |
| SPAST | 18 | Dec 21, 2023 |
| SPEG | 16 | Dec 21, 2023 |
| SPG11 | 48 | Jan 5, 2024 |
| SPG21 | 3 | Dec 21, 2023 |
| SPG7 | 14 | Jan 5, 2024 |
| SPINK1 | 8 | Jan 5, 2024 |
| SPINK5 | 1 | Dec 21, 2023 |
| SPMIP11 | 1 | Dec 21, 2023 |
| SPR | 1 | Jan 5, 2024 |
| SPTA1 | 138 | Jan 5, 2024 |
| SPTAN1 | 6 | Dec 21, 2023 |
| SPTB | 110 | Jan 5, 2024 |
| SPTBN2 | 2 | Dec 21, 2023 |
| SPTLC1 | 3 | May 26, 2021 |
| SPTLC2 | 4 | May 26, 2021 |
| SQSTM1 | 5 | Jan 5, 2024 |
| SRCAP | 1 | Jul 18, 2018 |
| SRFBP1 | 1 | Dec 21, 2023 |
| SSUH2 | 3 | May 26, 2021 |
| ST3GAL5 | 2 | May 26, 2021 |
| ST6GALNAC4-ST6GALNAC6-AK1 | 2 | Dec 21, 2023 |
| STAC3 | 2 | Jul 7, 2022 |
| STAT1 | 4 | Dec 21, 2023 |
| STAT3 | 2 | Dec 21, 2023 |
| STAT5B | 1 | Dec 21, 2023 |
| STIM1 | 3 | Dec 21, 2023 |
| STK11 | 21 | Dec 21, 2023 |
| STOM | 4 | Dec 21, 2023 |
| STRADA | 1 | Dec 21, 2023 |
| STRC | 11 | Dec 21, 2023 |
| STX1B | 1 | Jul 7, 2022 |
| STXBP1 | 3 | Dec 21, 2023 |
| STXBP2 | 8 | Dec 21, 2023 |
| SUCLA2 | 8 | Dec 21, 2023 |
| SUCLG1 | 5 | May 23, 2018 |
| SUGCT | 13 | May 23, 2018 |
| SUMF1 | 16 | Dec 21, 2023 |
| SURF1 | 16 | Dec 21, 2023 |
| SYN1 | 1 | Dec 21, 2023 |
| SYNE1 | 41 | Jan 5, 2024 |
| SYNE4 | 1 | Dec 21, 2023 |
| SYNGAP1 | 1 | Feb 28, 2018 |
| SYNGAP1-AS1 | 1 | Feb 28, 2018 |
| SYNJ1 | 2 | Dec 21, 2023 |
| SYP | 2 | Dec 21, 2023 |
| SYP-AS1 | 1 | Dec 21, 2023 |
| SZT2 | 18 | Dec 21, 2023 |
| TACO1 | 2 | May 23, 2018 |
| TAF15 | 1 | Dec 21, 2023 |
| TAFAZZIN | 5 | Jan 5, 2024 |
| TALDO1 | 5 | Dec 21, 2023 |
| TANGO2 | 1 | Dec 21, 2023 |
| TAPT1 | 1 | Dec 21, 2023 |
| TARS2 | 9 | May 23, 2018 |
| TBC1D24 | 7 | Dec 21, 2023 |
| TBCD | 2 | Dec 21, 2023 |
| TBCEL-TECTA | 3 | Dec 21, 2023 |
| TBX1 | 2 | Dec 21, 2023 |
| TBX18 | 1 | Dec 21, 2023 |
| TBX4 | 1 | Feb 28, 2018 |
| TCAP | 5 | Dec 21, 2023 |
| TCF4 | 2 | May 26, 2021 |
| TCOF1 | 3 | Dec 21, 2023 |
| TDP1 | 4 | Dec 21, 2023 |
| TECPR2 | 11 | Dec 21, 2023 |
| TECTA | 3 | Dec 21, 2023 |
| TENM4 | 5 | Dec 21, 2023 |
| TERC | 7 | Jan 5, 2024 |
| TERT | 27 | Jan 5, 2024 |
| TFG | 4 | Jul 7, 2022 |
| TGFB2 | 3 | Dec 21, 2023 |
| TGFB3 | 3 | Dec 21, 2023 |
| TGFBR1 | 3 | Dec 21, 2023 |
| TGFBR2 | 3 | Dec 21, 2023 |
| TH | 2 | Dec 21, 2023 |
| THAP1 | 1 | Feb 28, 2018 |
| THAP11 | 1 | Jul 7, 2022 |
| THBD | 21 | Jan 5, 2024 |
| THG1L | 3 | Dec 21, 2023 |
| TIA1 | 4 | Jan 5, 2024 |
| TIMM44 | 14 | May 23, 2018 |
| TIMM8A | 2 | May 23, 2018 |
| TINF2 | 3 | Dec 21, 2023 |
| TJP2 | 9 | Jan 5, 2024 |
| TK2 | 3 | May 23, 2018 |
| TMC1 | 4 | Dec 21, 2023 |
| TMCO6 | 2 | Dec 21, 2023 |
| TMEM126A | 5 | May 23, 2018 |
| TMEM216 | 1 | Jan 5, 2024 |
| TMEM43 | 5 | Dec 21, 2023 |
| TMEM67 | 4 | Dec 21, 2023 |
| TMEM70 | 8 | Dec 21, 2023 |
| TMPPE | 3 | Jul 7, 2022 |
| TMPRSS3 | 4 | Dec 21, 2023 |
| TMPRSS6 | 2 | Dec 21, 2023 |
| TNC | 2 | Dec 21, 2023 |
| TNFRSF11A | 1 | Feb 28, 2018 |
| TNFRSF13B | 4 | May 19, 2023 |
| TNFRSF1A | 7 | Dec 21, 2023 |
| TNNC1 | 3 | Dec 21, 2023 |
| TNNI3 | 5 | Dec 21, 2023 |
| TNNI3K | 1 | Dec 21, 2023 |
| TNNT1 | 1 | Dec 21, 2023 |
| TNNT2 | 10 | Dec 21, 2023 |
| TNPO3 | 3 | Dec 21, 2023 |
| TNXB | 20 | Dec 21, 2023 |
| TOE1 | 1 | Oct 31, 2017 |
| TOMT | 3 | Dec 21, 2023 |
| TP53 | 50 | Jan 5, 2024 |
| TPI1 | 3 | Jan 5, 2024 |
| TPK1 | 1 | May 23, 2018 |
| TPM1 | 3 | May 26, 2021 |
| TPM2 | 2 | May 26, 2021 |
| TPM3 | 1 | May 23, 2022 |
| TPP1 | 28 | Jan 5, 2024 |
| TPRN | 2 | Dec 21, 2023 |
| TRAF3IP1 | 1 | Dec 21, 2023 |
| TRAP1 | 18 | May 23, 2018 |
| TRAPPC11 | 1 | Dec 21, 2023 |
| TRAPPC9 | 2 | Feb 28, 2018 |
| TRDN | 5 | Dec 21, 2023 |
| TRIM2 | 5 | Sep 15, 2023 |
| TRIM32 | 8 | Dec 21, 2023 |
| TRIM37 | 10 | Jan 5, 2024 |
| TRIM63 | 1 | Dec 21, 2023 |
| TRIOBP | 9 | Dec 21, 2023 |
| TRIP11 | 1 | Oct 17, 2022 |
| TRIP4 | 3 | Dec 21, 2023 |
| TRMU | 10 | Jul 7, 2022 |
| TRPA1 | 1 | May 26, 2021 |
| TRPM6 | 2 | Dec 21, 2023 |
| TRPV4 | 15 | Dec 21, 2023 |
| TSC1 | 14 | Dec 21, 2023 |
| TSC2 | 31 | Jan 5, 2024 |
| TSFM | 5 | Dec 21, 2023 |
| TSPAN1 | 8 | Dec 21, 2023 |
| TTC19 | 5 | Dec 21, 2023 |
| TTC21B | 2 | Dec 21, 2023 |
| TTC7A | 9 | Dec 21, 2023 |
| TTN | 480 | Jan 5, 2024 |
| TTN-AS1 | 298 | Jan 5, 2024 |
| TTPA | 2 | Dec 21, 2023 |
| TTR | 9 | Dec 21, 2023 |
| TUBA1A | 1 | Jul 18, 2018 |
| TUBA8 | 4 | Dec 21, 2023 |
| TUBB3 | 2 | Jul 7, 2022 |
| TUBB6 | 2 | Sep 15, 2023 |
| TUFM | 1 | May 23, 2018 |
| TUSC3 | 1 | Feb 28, 2018 |
| TWNK | 19 | Dec 21, 2023 |
| TYMP | 28 | Jan 5, 2024 |
| UBE3A | 1 | May 26, 2021 |
| UBQLN2 | 2 | Dec 21, 2023 |
| UGT1A | 20 | Jan 5, 2024 |
| UGT1A1 | 20 | Jan 5, 2024 |
| UGT1A10 | 20 | Jan 5, 2024 |
| UGT1A3 | 20 | Jan 5, 2024 |
| UGT1A4 | 20 | Jan 5, 2024 |
| UGT1A5 | 20 | Jan 5, 2024 |
| UGT1A6 | 20 | Jan 5, 2024 |
| UGT1A7 | 20 | Jan 5, 2024 |
| UGT1A8 | 20 | Jan 5, 2024 |
| UGT1A9 | 20 | Jan 5, 2024 |
| UMOD | 2 | Dec 21, 2023 |
| UNC13D | 1 | Dec 21, 2023 |
| UNG | 1 | Jul 7, 2022 |
| UPF3B | 1 | Feb 28, 2018 |
| UQCRB | 1 | May 23, 2018 |
| UQCRC2 | 6 | May 23, 2018 |
| UQCRQ | 1 | May 23, 2018 |
| UROD | 11 | Jan 5, 2024 |
| UROS | 2 | Dec 21, 2023 |
| USB1 | 12 | Jan 5, 2024 |
| USH1C | 1 | Dec 21, 2023 |
| USH1G | 2 | Dec 21, 2023 |
| USH2A | 8 | Dec 21, 2023 |
| USH2A-AS1 | 2 | Dec 21, 2023 |
| USP7 | 1 | Dec 21, 2023 |
| USP7-AS1 | 1 | Dec 21, 2023 |
| USP9X | 3 | Jul 18, 2018 |
| VARS2 | 35 | Dec 21, 2023 |
| VAV1 | 1 | Feb 28, 2018 |
| VCL | 8 | Dec 21, 2023 |
| VCP | 2 | Dec 21, 2023 |
| VDR | 2 | Dec 21, 2023 |
| VEPH1 | 1 | Feb 28, 2018 |
| VHL | 4 | Dec 21, 2023 |
| VIPAS39 | 1 | Dec 21, 2023 |
| VLDLR | 4 | Dec 21, 2023 |
| VPS13A | 3 | Dec 21, 2023 |
| VPS13B | 23 | Dec 21, 2023 |
| VPS13C | 8 | Dec 21, 2023 |
| VPS13D | 11 | Dec 21, 2023 |
| VPS33A | 1 | Jul 7, 2022 |
| VPS33B | 5 | Dec 21, 2023 |
| VPS37A | 4 | Dec 21, 2023 |
| VPS45 | 5 | Dec 21, 2023 |
| VWA1 | 1 | Dec 21, 2023 |
| VWF | 30 | Jan 5, 2024 |
| WARS1 | 1 | Dec 21, 2023 |
| WAS | 4 | Dec 21, 2023 |
| WASHC5 | 11 | Jan 5, 2024 |
| WDR26 | 1 | Dec 21, 2023 |
| WDR35 | 1 | Dec 21, 2023 |
| WDR62 | 18 | Jan 5, 2024 |
| WDR81 | 2 | Dec 21, 2023 |
| WFS1 | 5 | Dec 21, 2023 |
| WHRN | 2 | Dec 21, 2023 |
| WIPF1 | 6 | Dec 21, 2023 |
| WNK1 | 24 | Jan 5, 2024 |
| WRAP53 | 2 | Jan 5, 2024 |
| WRN | 4 | Dec 21, 2023 |
| WWOX | 9 | Dec 21, 2023 |
| XDH | 3 | Dec 21, 2023 |
| XIAP | 2 | Dec 21, 2023 |
| XPA | 5 | Dec 21, 2023 |
| XPC | 10 | Dec 21, 2023 |
| XPNPEP3 | 2 | May 23, 2018 |
| XYLT1 | 4 | Dec 21, 2023 |
| YARS1 | 4 | Jan 5, 2024 |
| YARS2 | 8 | May 23, 2018 |
| ZAP70 | 6 | Dec 21, 2023 |
| ZBTB18 | 1 | Feb 28, 2018 |
| ZC4H2 | 1 | Feb 28, 2018 |
| ZDHHC24 | 1 | Feb 28, 2018 |
| ZEB2 | 3 | Dec 21, 2023 |
| ZFYVE26 | 35 | Jan 5, 2024 |
| ZNF148 | 1 | Feb 28, 2018 |
| ZNF276 | 10 | Jan 5, 2024 |
| ZNF423 | 2 | Dec 21, 2023 |
| ZNF469 | 15 | Dec 21, 2023 |
| ZNF518A | 1 | May 26, 2021 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 2-hydroxyglutaric aciduria | 1 test |
| 3-Methylglutaconic aciduria | 1 test |
| 3-Methylglutaconic aciduria type 2 | 1 test |
| 3-methylglutaconic aciduria type 5 | 3 tests |
| 3-methylglutaconic aciduria, type VIIA | 1 test |
| 3-methylglutaconic aciduria, type VIIB | 1 test |
| 46,XX testicular disorder of sex development | 1 test |
| 46,xx gonadal dysgenesis, complete, sry-positive | 1 test |
| ALG1-congenital disorder of glycosylation | 1 test |
| ALPI-related inflammatory bowel disease | 1 test |
| Abacavir hypersensitivity | 1 test |
| Abetalipoproteinaemia | 1 test |
| Acid sphingomyelinase deficiency | 1 test |
| Acrodysostosis with multiple hormone resistance | 1 test |
| Acromicric dysplasia | 4 tests |
| Activated PI3K-delta syndrome | 2 tests |
| Acute febrile neutrophilic dermatosis | 2 tests |
| Acute intermittent porphyria | 7 tests |
| Acute myeloid leukemia | 3 tests |
| Adams-Oliver syndrome | 3 tests |
| Adenine phosphoribosyltransferase deficiency | 1 test |
| Adrenoleukodystrophy | 4 tests |
| Adrenomyeloneuropathy | 2 tests |
| Adult Krabbe disease | 1 test |
| Adult hypophosphatasia | 1 test |
| Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | 1 test |
| Afibrinogenemia | 1 test |
| Agammaglobulinemia | 2 tests |
| Agammaglobulinemia 2, autosomal recessive | 1 test |
| Agammaglobulinemia 3, autosomal recessive | 1 test |
| Agammaglobulinemia 4, autosomal recessive | 1 test |
| Agammaglobulinemia 6, autosomal recessive | 1 test |
| Agammaglobulinemia 7, autosomal recessive | 1 test |
| Agammaglobulinemia 8, autosomal dominant | 1 test |
| Agammaglobulinemia 8b, autosomal recessive | 1 test |
| Aganglionic megacolon | 1 test |
| Aicardi Goutieres syndrome | 2 tests |
| Aicardi Goutieres syndrome 1, autosomal dominant | 1 test |
| Aicardi-Goutieres syndrome 1 | 1 test |
| Aicardi-Goutieres syndrome 2 | 1 test |
| Aicardi-Goutieres syndrome 3 | 1 test |
| Aicardi-Goutieres syndrome 4 | 1 test |
| Aicardi-Goutieres syndrome 5 | 1 test |
| Aicardi-Goutieres syndrome 6 | 1 test |
| Aicardi-Goutieres syndrome 7 | 3 tests |
| Aicardi-Goutieres syndrome 8 | 1 test |
| Aicardi-Goutieres syndrome 9 | 1 test |
| Alagille syndrome due to a JAG1 point mutation | 4 tests |
| Alagille syndrome due to a NOTCH2 point mutation | 4 tests |
| Alkaptonuria | 1 test |
| Allopurinol response | 1 test |
| Alpha-1-antitrypsin deficiency | 1 test |
| Alport syndrome | 2 tests |
| Alstrom syndrome | 3 tests |
| Alzheimer disease 2 | 1 test |
| Ambiguous genitalia | 1 test |
| Amelogenesis imperfecta type 1G | 1 test |
| Amyotrophic lateral sclerosis | 2 tests |
| Amyotrophic lateral sclerosis type 1 | 1 test |
| Amyotrophic neuralgia | 1 test |
| Anauxetic dysplasia 1 | 1 test |
| Andersen Tawil syndrome | 5 tests |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 3 tests |
| Aneurysmal bone cyst | 1 test |
| Angelman syndrome | 1 test |
| Angelman syndrome due to paternal uniparental disomy of chromosome 15 | 1 test |
| Anomaly of sex chromosome | 3 tests |
| Antenatal Bartter syndrome | 1 test |
| Aplastic anemia | 4 tests |
| Arginine:glycine amidinotransferase deficiency | 3 tests |
| Arrhythmogenic cardiomyopathy | 7 tests |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 4 tests |
| Arrhythmogenic right ventricular cardiomyopathy | 7 tests |
| Arterial tortuosity syndrome | 3 tests |
| Arylsulfatase A pseudodeficiency | 1 test |
| Asperger syndrome, susceptibility to | 1 test |
| Ataxia-pancytopenia syndrome | 1 test |
| Ataxia-telangiectasia syndrome | 2 tests |
| Atazanavir response | 2 tests |
| Athabaskan severe combined immunodeficiency | 2 tests |
| Atomoxetine response | 1 test |
| Atorvastatin response | 1 test |
| Atrial fibrillation | 7 tests |
| Atypical hemolytic-uremic syndrome | 2 tests |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 test |
| Autism spectrum disorder | 2 tests |
| Autoimmune disease | 1 test |
| Autoimmune disease, multisystem, infantile-onset | 2 tests |
| Autoimmune disease, multisystem, infantile-onset, 2 | 3 tests |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 test |
| Autoimmune interstitial lung disease-arthritis syndrome | 1 test |
| Autoimmune lymphoproliferative syndrome | 3 tests |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | 5 tests |
| Autoimmune lymphoproliferative syndrome type 1 | 1 test |
| Autoimmune lymphoproliferative syndrome type 1, autosomal recessive | 1 test |
| Autoimmune lymphoproliferative syndrome type 2A | 3 tests |
| Autoimmune lymphoproliferative syndrome type 2B | 2 tests |
| Autoimmune lymphoproliferative syndrome, type 1a | 1 test |
| Autoimmune lymphoproliferative syndrome, type 1b | 2 tests |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 6 tests |
| Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia | 1 test |
| Autoimmune polyglandular syndrome type 1, autosomal dominant | 1 test |
| Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia | 2 tests |
| Autoinflammation with arthritis and dyskeratosis | 1 test |
| Autoinflammation with episodic fever and lymphadenopathy | 3 tests |
| Autoinflammation, immune dysregulation, and eosinophilia | 3 tests |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 3 tests |
| Autoinflammatory disease, X-linked | 2 tests |
| Autoinflammatory disease, systemic, with vasculitis | 1 test |
| Autoinflammatory syndrome | 2 tests |
| Autoinflammatory syndrome, familial, Behcet-like | 3 tests |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 3 tests |
| Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | 1 test |
| Autosomal chromosomal disorder | 5 tests |
| Autosomal dominant distal myopathy | 1 test |
| Autosomal dominant hypocalcemia | 2 tests |
| Autosomal dominant hypocalcemia 2 | 1 test |
| Autosomal dominant medullary cystic kidney disease with or without hyperuricemia | 1 test |
| Autosomal dominant polycystic kidney disease | 2 tests |
| Autosomal dominant polycystic liver disease | 1 test |
| Autosomal recessive agammaglobulinemia 1 | 1 test |
| Autosomal recessive dyskeratosis congenita 4 | 2 tests |
| Autosomal recessive familial Mediterranean fever | 2 tests |
| Autosomal recessive inherited pseudoxanthoma elasticum | 1 test |
| Autosomal recessive polycystic kidney disease | 1 test |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 1 test |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 2 tests |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 1 test |
| Autosomal recessive spinocerebellar ataxia 14 | 1 test |
| Autosomal systemic lupus erythematosus type 16 | 1 test |
| Autosomal uniparental disomy | 1 test |
| Azathioprine response | 1 test |
| Azorean disease | 1 test |
| B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 1 test |
| BAP1-related tumor predisposition syndrome | 1 test |
| BENTA disease | 2 tests |
| Baraitser-Winter syndrome | 2 tests |
| Bare Lymphocyte Syndrome, Type II, Complementation Group D | 1 test |
| Bare lymphocyte syndrome type 2, complementation group A | 1 test |
| Bare lymphocyte syndrome type 2, complementation group E | 1 test |
| Bare lymphocyte syndrome, type II, complementation group B | 1 test |
| Bare lymphocyte syndrome, type II, complementation group c | 1 test |
| Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic | 1 test |
| Bartter disease type 1 | 2 tests |
| Bartter disease type 2 | 2 tests |
| Bartter disease type 3 | 2 tests |
| Bartter disease type 4A | 2 tests |
| Bartter disease type 4B | 1 test |
| Bartter disease type 5 | 2 tests |
| Bartter syndrome | 3 tests |
| Bartter syndrome with hypocalcemia | 1 test |
| Batten-Turner congenital myopathy | 1 test |
| Becker muscular dystrophy | 5 tests |
| Beckwith-Wiedemann syndrome | 2 tests |
| Belinostat response | 2 tests |
| Berardinelli-Seip congenital lipodystrophy | 1 test |
| Beta-thalassemia and related diseases | 1 test |
| Bethlem myopathy | 2 tests |
| Bile acid malabsorption, primary, 1 | 1 test |
| Bile acid malabsorption, primary, 2 | 1 test |
| Biotinidase deficiency | 1 test |
| Birt-Hogg-Dube syndrome | 1 test |
| Blau syndrome | 1 test |
| Blepharophimosis - intellectual disability syndrome, Ohdo type | 2 tests |
| Bone marrow failure syndrome 3 | 1 test |
| Branchial arch or oral-acral syndrome | 1 test |
| Breast cancer, susceptibility to | 1 test |
| Brittle cornea syndrome | 2 tests |
| Bruck syndrome | 1 test |
| Brugada syndrome | 6 tests |
| Bupropion response | 1 test |
| Burkitt lymphoma | 1 test |
| C1Q deficiency | 1 test |
| C1Q deficiency 2 | 1 test |
| C1Q deficiency 3 | 1 test |
| CARASIL syndrome | 1 test |
| CHARGE association | 2 tests |
| COL4A1 or COL4A2-related cerebral small vessel disease | 2 tests |
| Candidiasis, familial, 6 | 1 test |
| Candidiasis, familial, 8 | 1 test |
| Candidiasis, familial, 9 | 1 test |
| Capecitabine response | 2 tests |
| Capillary malformation-arteriovenous malformation syndrome | 2 tests |
| Carbamazepine hypersensitivity | 1 test |
| Carbamazepine response | 1 test |
| Carcinoid syndrome | 2 tests |
| Cardiac arrhythmia | 9 tests |
| Cardiac valvular dysplasia, X-linked | 3 tests |
| Cardiofaciocutaneous syndrome 1 | 5 tests |
| Cardiofaciocutaneous syndrome 2 | 5 tests |
| Cardiofaciocutaneous syndrome 3 | 5 tests |
| Cardiofaciocutaneous syndrome 4 | 5 tests |
| Cardiomyopathy | 8 tests |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 5 tests |
| Carney complex | 1 test |
| Carnitine acylcarnitine translocase deficiency | 1 test |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 test |
| Carnitine palmitoyltransferase II deficiency | 4 tests |
| Catechol-o-methyltransferase deficiency | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 7 tests |
| Cerebral amyloid angiopathy | 1 test |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 test |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 1 test |
| Cerebral cavernous malformation | 2 tests |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 1 test |
| Cerebroretinal microangiopathy with calcifications and cysts 2 | 1 test |
| Char syndrome | 1 test |
| Charcot-Marie-Tooth disease | 1 test |
| Charcot-Marie-Tooth disease, type IA | 1 test |
| Chilblain lupus 1 | 1 test |
| Childhood hypophosphatasia | 1 test |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 test |
| Childhood-onset cerebral X-linked adrenoleukodystrophy | 1 test |
| Chlorpropamide response | 1 test |
| Cholestanol storage disease | 7 tests |
| Cholestasis, infantile, NR1H4 related | 1 test |
| Cholestasis, progressive familial intrahepatic, 4 | 1 test |
| Cholestasis, progressive familial intrahepatic, 5 | 1 test |
| Cholesteryl ester storage disease | 1 test |
| Chondrodysplasia punctata 2 X-linked dominant | 1 test |
| Chromosome 22q11.2 microduplication syndrome | 1 test |
| Chronic granulomatous disease | 1 test |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 test |
| Chronic myelomonocytic leukemia | 1 test |
| Chylomicron retention disease | 1 test |
| Chylomicronemia syndrome | 1 test |
| Chédiak-Higashi syndrome | 3 tests |
| Citalopram response | 2 tests |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 test |
| Classic homocystinuria | 2 tests |
| Clopidogrel response | 1 test |
| Coats plus syndrome | 1 test |
| Codeine response | 1 test |
| Coenzyme Q10 deficiency | 1 test |
| Coenzyme Q10 deficiency, primary, 1 | 1 test |
| Cohen syndrome | 1 test |
| Cold-induced sweating syndrome 1 | 1 test |
| Cold-induced sweating syndrome 2 | 1 test |
| Cole-Carpenter syndrome | 1 test |
| Colon cancer | 1 test |
| Colorectal / endometrial cancer | 2 tests |
| Colorectal cancer | 3 tests |
| Combined immunodeficiency | 1 test |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 1 test |
| Combined immunodeficiency due to CD3gamma deficiency | 3 tests |
| Combined immunodeficiency due to DOCK8 deficiency | 3 tests |
| Combined immunodeficiency due to GINS1 deficiency | 1 test |
| Combined immunodeficiency due to LRBA deficiency | 6 tests |
| Combined immunodeficiency due to MALT1 deficiency | 1 test |
| Combined immunodeficiency due to ORAI1 deficiency | 2 tests |
| Combined immunodeficiency due to POLE2 deficiency | 1 test |
| Combined immunodeficiency due to STIM1 deficiency | 4 tests |
| Combined immunodeficiency due to STK4 deficiency | 2 tests |
| Combined immunodeficiency due to partial RAG1 deficiency | 3 tests |
| Combined immunodeficiency with faciooculoskeletal anomalies | 1 test |
| Combined immunodeficiency, X-linked | 2 tests |
| Combined molybdoflavoprotein enzyme deficiency | 1 test |
| Combined oxidative phosphorylation defect type 17 | 3 tests |
| Combined oxidative phosphorylation deficiency | 4 tests |
| Common variable immunodeficiency | 3 tests |
| Complement 3 glomerulopathy | 1 test |
| Complement component 2 deficiency | 1 test |
| Complement component C1r/C1s deficiency | 1 test |
| Complement component C1s deficiency | 1 test |
| Complete trisomy 13 syndrome | 3 tests |
| Complete trisomy 21 syndrome | 3 tests |
| Complex V deficiency | 1 test |
| Complex lethal osteochondrodysplasia | 1 test |
| Comprehensive testing for inherited renal disease | 1 test |
| Congenital adrenal hyperplasia | 1 test |
| Congenital afibrinogenemia | 1 test |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 test |
| Congenital chromosomal disease | 5 tests |
| Congenital contractural arachnodactyly | 2 tests |
| Congenital diarrhea | 1 test |
| Congenital diarrhea 5 with tufting enteropathy | 1 test |
| Congenital diarrhea 6 | 1 test |
| Congenital diarrhea 7 with exudative enteropathy | 1 test |
| Congenital disorder of glycosylation | 3 tests |
| Congenital disorder of glycosylation type II | 1 test |
| Congenital disorder of glycosylation, type ICC | 4 tests |
| Congenital disorder of glycosylation, type IIw | 2 tests |
| Congenital dyserythropoietic anemia | 2 tests |
| Congenital dyserythropoietic anemia type 4 | 1 test |
| Congenital dyserythropoietic anemia, type I | 1 test |
| Congenital dyserythropoietic anemia, type II | 1 test |
| Congenital generalized lipodystrophy | 1 test |
| Congenital glucose-galactose malabsorption | 1 test |
| Congenital heart disease | 9 tests |
| Congenital lactase deficiency | 1 test |
| Congenital long QT syndrome | 8 tests |
| Congenital malabsorptive diarrhea 4 | 1 test |
| Congenital microvillous atrophy | 1 test |
| Congenital muscular dystrophy due to LMNA mutation | 6 tests |
| Congenital myasthenic syndrome | 2 tests |
| Congenital neutropenia | 2 tests |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 1 test |
| Congenital prothrombin deficiency | 1 test |
| Congenital secretory diarrhea, chloride type | 1 test |
| Congenital secretory sodium diarrhea 8 | 1 test |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 1 test |
| Congenital short bowel syndrome, X-linked | 3 tests |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 2 tests |
| Congenital sodium diarrhea | 1 test |
| Conotruncal heart malformations | 1 test |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 1 test |
| Coronary artery disease, autosomal dominant 2 | 2 tests |
| Costello syndrome | 5 tests |
| Cranioectodermal dysplasia 2 | 1 test |
| Creatine transporter deficiency | 1 test |
| Crigler-Najjar syndrome | 2 tests |
| Crigler-Najjar syndrome type 1 | 2 tests |
| Crigler-Najjar syndrome, type II | 1 test |
| Cutaneous porphyria | 3 tests |
| Cutis laxa | 3 tests |
| Cystic fibrosis | 2 tests |
| Cystinuria | 2 tests |
| D,L-2-hydroxyglutaric aciduria | 1 test |
| D-2-hydroxyglutaric aciduria | 2 tests |
| D-2-hydroxyglutaric aciduria 1 | 1 test |
| D-2-hydroxyglutaric aciduria 2 | 1 test |
| DK1-congenital disorder of glycosylation | 3 tests |
| DNA ligase IV deficiency | 2 tests |
| DOCK2 deficiency | 1 test |
| Danon disease | 4 tests |
| Deafness-lymphedema-leukemia syndrome | 3 tests |
| Deficiency of alpha-mannosidase | 1 test |
| Deficiency of guanidinoacetate methyltransferase | 3 tests |
| Deficiency of isobutyryl-CoA dehydrogenase | 3 tests |
| Deficiency of mevalonate kinase | 3 tests |
| Deficiency of ribose-5-phosphate isomerase | 1 test |
| Deficiency of steroid 11-beta-monooxygenase | 1 test |
| Deficiency of transaldolase | 1 test |
| Dehydrated hereditary stomatocytosis 2 | 1 test |
| Delayed puberty | 1 test |
| Dent disease | 2 tests |
| Dent disease type 2 | 1 test |
| Dentatorubral-pallidoluysian atrophy | 1 test |
| Desmosterolosis | 1 test |
| DiGeorge syndrome | 2 tests |
| Diamond-Blackfan anemia 1 | 2 tests |
| Diaphyseal dysplasia | 2 tests |
| Diarrhea 10, protein-losing enteropathy type | 1 test |
| Diarrhea 12, with microvillus atrophy | 1 test |
| Diffuse interstitial pulmonary fibrosis | 1 test |
| Dihydropyrimidine dehydrogenase deficiency | 3 tests |
| Dilated cardiomyopathy 3B | 1 test |
| Disorder of fatty acid metabolism | 3 tests |
| Disorder of fatty acid oxidation and ketogenesis | 1 test |
| Disorder of galactose metabolism | 1 test |
| Disorder of ketone body transport | 1 test |
| Disorder of organic acid metabolism | 1 test |
| Disorder of phenylalanine metabolism | 1 test |
| Disorder of protein N-glycosylation | 1 test |
| Disorder of the urea cycle metabolism | 1 test |
| Disorder of tyrosine metabolism | 1 test |
| Distal renal tubular acidosis | 1 test |
| Distal weakness | 1 test |
| Dizygotic twins | 1 test |
| Dominant beta-thalassemia | 2 tests |
| Drash syndrome | 1 test |
| Drug metabolism or response | 16 tests |
| Duchenne and Becker muscular dystrophy | 1 test |
| Duchenne muscular dystrophy | 5 tests |
| Dysfibrinogenemia | 1 test |
| Dyskeratosis congenita | 2 tests |
| Dyskeratosis congenita, X-linked | 2 tests |
| Dyskeratosis congenita, autosomal dominant 1 | 1 test |
| Dyskeratosis congenita, autosomal dominant 2 | 1 test |
| Dyskeratosis congenita, autosomal dominant 3 | 1 test |
| Dyskeratosis congenita, autosomal dominant 4 | 1 test |
| Dyskeratosis congenita, autosomal dominant 6 | 1 test |
| Dyskeratosis congenita, autosomal recessive 1 | 1 test |
| Dyskeratosis congenita, autosomal recessive 2 | 1 test |
| Dyskeratosis congenita, autosomal recessive 3 | 1 test |
| Dyskeratosis congenita, autosomal recessive 5 | 2 tests |
| Dyskeratosis congenita, autosomal recessive 6 | 1 test |
| Dyskeratosis congenita, autosomal recessive 7 | 1 test |
| Dyssynergia | 1 test |
| Ectodermal dysplasia | 1 test |
| Ectodermal dysplasia and immune deficiency | 2 tests |
| Ectodermal dysplasia and immunodeficiency 1 | 1 test |
| Ectodermal dysplasia and immunodeficiency 2 | 1 test |
| Ectodermal dysplasia, X-linked | 1 test |
| Ectopia lentis | 4 tests |
| Efavirenz response | 1 test |
| Ehlers-Danlos syndrome | 4 tests |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 2 tests |
| Ehlers-Danlos syndrome, arthrochalasia type | 3 tests |
| Ehlers-Danlos syndrome, cardiac valvular type | 3 tests |
| Ehlers-Danlos syndrome, classic type | 4 tests |
| Ehlers-Danlos syndrome, classic-like, 2 | 2 tests |
| Ehlers-Danlos syndrome, dermatosparaxis type | 2 tests |
| Ehlers-Danlos syndrome, musculocontractural type | 2 tests |
| Ehlers-Danlos syndrome, periodontal type 2 | 1 test |
| Ehlers-Danlos syndrome, periodontitis type | 1 test |
| Ehlers-Danlos syndrome, type 4 | 4 tests |
| Ehlers-Danlos/osteogenesis imperfecta syndrome | 3 tests |
| Elliptocytosis 1 | 2 tests |
| Elliptocytosis 2 | 2 tests |
| Elliptocytosis 3 | 2 tests |
| Emery-Dreifuss muscular dystrophy | 7 tests |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 3 tests |
| Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 | 1 test |
| Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency | 1 test |
| Encephalopathy, acute, infection-induced | 1 test |
| Epidermodysplasia verruciformis | 1 test |
| Epidermodysplasia verruciformis, susceptibility to, 3 | 1 test |
| Epidermolysis bullosa dystrophica | 1 test |
| Epidermolysis bullosa pruriginosa | 1 test |
| Epilepsy | 1 test |
| Episodic pain syndrome, familial, 2 | 1 test |
| Erythrocytosis | 1 test |
| Erythropoietic protoporphyria | 6 tests |
| Escitalopram response | 2 tests |
| FADD-related immunodeficiency | 3 tests |
| Fabry disease | 14 tests |
| Facioscapulohumeral muscular dystrophy 4, digenic | 1 test |
| Factor V deficiency | 1 test |
| Factor VII deficiency | 1 test |
| Factor X deficiency | 1 test |
| Factor XII deficiency disease | 1 test |
| Factor XIII, A subunit, deficiency of | 1 test |
| Factor XIII, b subunit, deficiency of | 1 test |
| Familial Mediterranean fever | 2 tests |
| Familial Mediterranean fever, autosomal dominant | 2 tests |
| Familial Periodic Fever | 1 test |
| Familial amyloid nephropathy with urticaria AND deafness | 1 test |
| Familial amyloid neuropathy | 1 test |
| Familial aortopathy | 3 tests |
| Familial apolipoprotein C-II deficiency | 1 test |
| Familial cardiomyopathy | 8 tests |
| Familial chilblain lupus | 1 test |
| Familial chylomicronemia syndrome | 1 test |
| Familial cold autoinflammatory syndrome | 3 tests |
| Familial cold autoinflammatory syndrome 1 | 1 test |
| Familial cold autoinflammatory syndrome 2 | 1 test |
| Familial cold autoinflammatory syndrome 3 | 4 tests |
| Familial cold autoinflammatory syndrome 4 | 1 test |
| Familial dysautonomia | 1 test |
| Familial episodic pain syndrome | 1 test |
| Familial episodic pain syndrome with predominantly lower limb involvement | 1 test |
| Familial episodic pain syndrome with predominantly upper body involvement | 1 test |
| Familial erythrocytosis | 1 test |
| Familial hemiplegic migraine | 1 test |
| Familial hemophagocytic lymphohistiocytosis | 3 tests |
| Familial hemophagocytic lymphohistiocytosis 2 | 3 tests |
| Familial hemophagocytic lymphohistiocytosis 3 | 3 tests |
| Familial hemophagocytic lymphohistiocytosis 4 | 3 tests |
| Familial hemophagocytic lymphohistiocytosis 5 | 4 tests |
| Familial hyperaldosteronism type III | 1 test |
| Familial hypercholesterolemia | 2 tests |
| Familial hyperreninemic hypoaldosteronism type 2 | 1 test |
| Familial hypobetalipoproteinemia | 2 tests |
| Familial hypocalciuric hypercalcemia | 2 tests |
| Familial hypocalciuric hypercalcemia 1 | 1 test |
| Familial hypocalciuric hypercalcemia 2 | 1 test |
| Familial hypocalciuric hypercalcemia 3 | 1 test |
| Familial hypodysfibrinogenemia | 1 test |
| Familial hypokalemia-hypomagnesemia | 1 test |
| Familial idiopathic steroid-resistant nephrotic syndrome | 1 test |
| Familial intrahepatic cholestasis | 1 test |
| Familial isolated dilated cardiomyopathy | 5 tests |
| Familial juvenile gout | 2 tests |
| Familial pancreatic carcinoma | 1 test |
| Familial partial lipodystrophy | 1 test |
| Familial prostate carcinoma | 1 test |
| Familial renal hypouricemia | 1 test |
| Familial thoracic aortic aneurysm and aortic dissection | 5 tests |
| Familial type 3 hyperlipoproteinemia | 1 test |
| Fanconi anemia | 1 test |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 test |
| Farber lipogranulomatosis | 1 test |
| Fatty acyl-CoA reductase 1 deficiency | 2 tests |
| Fibrous dysplasia of jaw | 1 test |
| Fish-eye disease | 1 test |
| Fluoropyrimidine response | 2 tests |
| Fluorouracil response | 2 tests |
| Fluoxetine response | 2 tests |
| Fluvoxamine response | 2 tests |
| Focal segmental glomerulosclerosis | 1 test |
| Follicular lymphoma | 1 test |
| Fragile X syndrome | 1 test |
| Fragile X-associated tremor/ataxia syndrome | 1 test |
| Friedreich ataxia | 3 tests |
| Friedreich ataxia 1 | 1 test |
| Friedreich ataxia with retained reflexes | 1 test |
| Frontometaphyseal dysplasia | 3 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis | 2 tests |
| Fucosidosis | 1 test |
| Fumarase deficiency | 1 test |
| GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 1 test |
| GATA2 deficiency with susceptibility to MDS/AML | 2 tests |
| GLUT1 deficiency syndrome | 1 test |
| Galactosemia | 4 tests |
| Galactosylceramide beta-galactosidase deficiency | 6 tests |
| Galloway-Mowat syndrome | 1 test |
| Gamma-glutamylcysteine synthetase deficiency | 2 tests |
| Gastrointestinal defect and immunodeficiency syndrome | 1 test |
| Gaucher disease | 7 tests |
| Geleophysic dysplasia | 4 tests |
| Generalized pustular psoriasis | 1 test |
| Genetic cardiac rhythm disease | 9 tests |
| Genetic cerebral small vessel disease | 1 test |
| Gilbert syndrome | 4 tests |
| Gilbert syndrome, susceptibility to | 2 tests |
| Glibenclamide response | 1 test |
| Glimepiride response | 1 test |
| Glipizide response | 1 test |
| Global developmental delay | 1 test |
| Glomerulopathy with fibronectin deposits 2 | 1 test |
| Glomuvenous malformation | 1 test |
| Glucocorticoid-remediable aldosteronism | 1 test |
| Glucose-6-phosphate transport defect | 3 tests |
| Glutaric acidemia IIa | 1 test |
| Glutaric acidemia IIb | 1 test |
| Glutaric acidemia IIc | 1 test |
| Glutaric aciduria, type 1 | 3 tests |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 2 tests |
| Glycogen storage disease | 8 tests |
| Glycogen storage disease IIIa | 3 tests |
| Glycogen storage disease IIIb | 3 tests |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 test |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 test |
| Glycogen storage disease, type I | 2 tests |
| Glycogen storage disease, type II | 11 tests |
| Glycogen storage disease, type VII | 2 tests |
| Gnathodiaphyseal dysplasia | 1 test |
| Granulomatous disease, chronic, X-linked | 1 test |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 1 test |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 1 test |
| Griscelli syndrome type 2 | 2 tests |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 2 tests |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 2 tests |
| HNSHA due to aldolase A deficiency | 2 tests |
| Hashimoto thyroiditis | 1 test |
| Hearing loss, autosomal dominant 34, with or without inflammation | 1 test |
| Hematologic disorder | 1 test |
| Hematologic neoplasm | 2 tests |
| Heme oxygenase 1 deficiency | 2 tests |
| Hemolytic anemia | 2 tests |
| Hemolytic anemia due to adenylate kinase deficiency | 2 tests |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 2 tests |
| Hemolytic anemia due to glutathione reductase deficiency | 1 test |
| Hemolytic anemia due to hexokinase deficiency | 2 tests |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 2 tests |
| Hemophilia | 2 tests |
| Hemophilia B leyden | 1 test |
| Hepatic methionine adenosyltransferase deficiency | 1 test |
| Hepatitis B virus, susceptibility to | 2 tests |
| Hepatitis C virus infection, response to therapy of | 1 test |
| Hepatoerythropoietic porphyria | 2 tests |
| Hereditary ATTR amyloidosis | 4 tests |
| Hereditary Paraganglioma-Pheochromacytoma Syndrome | 1 test |
| Hereditary Wilms tumor | 1 test |
| Hereditary acrodermatitis enteropathica | 1 test |
| Hereditary acrokeratotic poikiloderma, Weary type | 1 test |
| Hereditary angioedema type 3 | 1 test |
| Hereditary antithrombin deficiency | 1 test |
| Hereditary breast and/or gynecological cancer syndrome | 1 test |
| Hereditary breast ovarian cancer syndrome | 1 test |
| Hereditary cancer-predisposing syndrome | 3 tests |
| Hereditary coproporphyria | 6 tests |
| Hereditary diffuse gastric adenocarcinoma | 1 test |
| Hereditary disease | 5 tests |
| Hereditary elliptocytosis | 2 tests |
| Hereditary endocrine tumor syndrome | 1 test |
| Hereditary factor IX deficiency disease | 2 tests |
| Hereditary factor VIII deficiency disease | 1 test |
| Hereditary factor X deficiency disease | 1 test |
| Hereditary factor XI deficiency disease | 1 test |
| Hereditary gastrointestinal cancer and/or polyposis syndrome | 1 test |
| Hereditary hearing loss and deafness | 1 test |
| Hereditary hemochromatosis | 1 test |
| Hereditary hemorrhagic telangiectasia | 2 tests |
| Hereditary hyperbilirubinemia | 1 test |
| Hereditary insensitivity to pain with anhidrosis | 1 test |
| Hereditary leiomyomatosis and renal cell cancer | 1 test |
| Hereditary liability to pressure palsies | 1 test |
| Hereditary lipodystrophy | 1 test |
| Hereditary motor and sensory neuropathy | 1 test |
| Hereditary neutrophilia | 1 test |
| Hereditary non-spherocytic hemolytic anemia | 2 tests |
| Hereditary pancreatitis | 2 tests |
| Hereditary sensory and autonomic neuropathy type 6 | 1 test |
| Hereditary sensory and autonomic neuropathy type 7 | 1 test |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 test |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 test |
| Hereditary spastic paraplegia | 1 test |
| Hereditary spherocytosis | 2 tests |
| Hereditary spherocytosis type 1 | 2 tests |
| Hereditary spherocytosis type 2 | 2 tests |
| Hereditary spherocytosis type 3 | 2 tests |
| Hereditary spherocytosis type 4 | 2 tests |
| Hereditary spherocytosis type 5 | 2 tests |
| Hereditary stomatocytosis | 2 tests |
| Hereditary thrombophilia due to congenital protein C deficiency | 1 test |
| Hereditary thrombophilia due to congenital protein S deficiency | 1 test |
| Hereditary von Willebrand disease | 1 test |
| Hereditary xanthinuria | 1 test |
| Hereditary xanthinuria type 1 | 1 test |
| Heritable Thoracic Aortic Disease | 3 tests |
| Hermansky-Pudlak syndrome | 3 tests |
| Hermansky-Pudlak syndrome 1 | 1 test |
| Hermansky-Pudlak syndrome 10 | 3 tests |
| Hermansky-Pudlak syndrome 2 | 3 tests |
| Hermansky-Pudlak syndrome 3 | 1 test |
| Hermansky-Pudlak syndrome 4 | 1 test |
| Hermansky-Pudlak syndrome 6 | 1 test |
| Hermansky-Pudlak syndrome 9 | 1 test |
| Herpes simplex encephalitis | 1 test |
| Holt-Oram syndrome | 1 test |
| Homocystinuria | 3 tests |
| Hormone receptor-positive breast cancer | 2 tests |
| Huntington disease | 1 test |
| Hutchinson-Gilford syndrome | 1 test |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 5 tests |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 2 tests |
| Hyper-IgE recurrent infection syndrome 4, autosomal recessive | 1 test |
| Hyper-IgE recurrent infection syndrome 4A, autosomal dominant | 1 test |
| Hyper-IgE recurrent infection syndrome 5, autosomal recessive | 1 test |
| Hyper-IgE syndrome | 2 tests |
| Hyper-IgM syndrome type 1 | 2 tests |
| Hyper-IgM syndrome type 2 | 1 test |
| Hypercalcemia, infantile, 1 | 1 test |
| Hypercalcemia, infantile, 2 | 1 test |
| Hypercalciuria, absorptive, 1 | 1 test |
| Hyperimmunoglobulin D with periodic fever | 3 tests |
| Hyperimmunoglobulin M syndrome | 2 tests |
| Hyperkalemic periodic paralysis | 1 test |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | 1 test |
| Hyperlipidemia, familial combined, LPL related | 2 tests |
| Hyperlipoproteinemia | 2 tests |
| Hyperlipoproteinemia, type 1D | 1 test |
| Hyperlipoproteinemia, type I | 2 tests |
| Hyperoxaluria | 1 test |
| Hypertriglyceridemia 1 | 1 test |
| Hypertrophic cardiomyopathy | 6 tests |
| Hyperuricemic nephropathy, familial juvenile type 4 | 1 test |
| Hypobetalipoproteinemia | 1 test |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 test |
| Hypokalemic periodic paralysis | 1 test |
| Hypomagnesemia, seizures, and intellectual disability | 1 test |
| Hypoparathyroidism | 1 test |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 test |
| Hypophosphatasia | 2 tests |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 1 test |
| Hypophosphatemic nephrolithiasis/osteoporosis 2 | 1 test |
| Hypophosphatemic rickets | 1 test |
| Hypouricemia, renal, 2 | 1 test |
| Hypoxanthine-guanine phosphoribosyltransferase deficiency | 1 test |
| IKBKG-related immunodeficiency with or without ectodermal dysplasia | 3 tests |
| IL21-related infantile inflammatory bowel disease | 2 tests |
| IMAGe syndrome | 1 test |
| Ichthyosis linearis circumflexa | 1 test |
| Idiopathic hypereosinophilic syndrome | 1 test |
| Imerslund-Grasbeck syndrome type 1 | 1 test |
| Immune dysregulation disease with immunodeficiency | 2 tests |
| Immunodeficiency 104 | 2 tests |
| Immunodeficiency 106, susceptibility to viral infections | 1 test |
| Immunodeficiency 109 with lymphoproliferation | 3 tests |
| Immunodeficiency 115 with autoinflammation | 1 test |
| Immunodeficiency 11b with atopic dermatitis | 6 tests |
| Immunodeficiency 14 | 5 tests |
| Immunodeficiency 14b, autosomal recessive | 5 tests |
| Immunodeficiency 18 | 1 test |
| Immunodeficiency 19 | 1 test |
| Immunodeficiency 23 | 1 test |
| Immunodeficiency 25 | 1 test |
| Immunodeficiency 31B | 4 tests |
| Immunodeficiency 31C, autosomal dominant | 2 tests |
| Immunodeficiency 33 | 1 test |
| Immunodeficiency 35 | 1 test |
| Immunodeficiency 36 | 4 tests |
| Immunodeficiency 39 | 1 test |
| Immunodeficiency 45 | 2 tests |
| Immunodeficiency 47 | 1 test |
| Immunodeficiency 49 | 1 test |
| Immunodeficiency 51 | 1 test |
| Immunodeficiency 57 | 3 tests |
| Immunodeficiency 60 | 2 tests |
| Immunodeficiency 61 | 1 test |
| Immunodeficiency 63 with lymphoproliferation and autoimmunity | 4 tests |
| Immunodeficiency 64 | 3 tests |
| Immunodeficiency 65, susceptibility to viral infections | 1 test |
| Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 3 tests |
| Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | 3 tests |
| Immunodeficiency 74, COVID-19-related, X-linked | 2 tests |
| Immunodeficiency 75 | 3 tests |
| Immunodeficiency 76 | 1 test |
| Immunodeficiency 78 with autoimmunity and developmental delay | 3 tests |
| Immunodeficiency 81 | 1 test |
| Immunodeficiency 83, susceptibility to viral infections | 1 test |
| Immunodeficiency 87 and autoimmunity | 4 tests |
| Immunodeficiency 94 with autoinflammation and dysmorphic facies | 1 test |
| Immunodeficiency 95 | 1 test |
| Immunodeficiency 96 | 1 test |
| Immunodeficiency 98 with autoinflammation, X-linked | 1 test |
| Immunodeficiency due to CD25 deficiency | 3 tests |
| Immunodeficiency due to defect in CD3-gamma | 1 test |
| Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome | 1 test |
| Immunodeficiency, X-linked, with hyper-IgM | 1 test |
| Immunodeficiency, common variable, 1 | 3 tests |
| Immunodeficiency, common variable, 10 | 1 test |
| Immunodeficiency, common variable, 12 | 1 test |
| Immunodeficiency, common variable, 14 | 1 test |
| Immunodeficiency, common variable, 2 | 1 test |
| Immunodeficiency, common variable, 3 | 1 test |
| Immunodeficiency, common variable, 4 | 1 test |
| Immunodeficiency, common variable, 5 | 1 test |
| Immunodeficiency, common variable, 6 | 1 test |
| Immunodeficiency, common variable, 7 | 1 test |
| Immunodeficiency, common variable, due to APRIL deficiency | 1 test |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 1 test |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 test |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 1 test |
| Immunoglobulin A deficiency 2 | 1 test |
| Immunoskeletal dysplasia with neurodevelopmental abnormalities | 1 test |
| Inborn disorder of bile acid synthesis | 1 test |
| Inborn disorder of cobalamin metabolism and transport | 1 test |
| Inborn disorder of purine or pyrimidine metabolism | 2 tests |
| Inborn errors of metabolism | 2 tests |
| Inborn mitochondrial myopathy | 1 test |
| Incontinentia pigmenti syndrome | 3 tests |
| Increased HDL cholesterol concentration | 1 test |
| Infantile Krabbe disease | 5 tests |
| Infantile hypophosphatasia | 1 test |
| Infantile-onset periodic fever-panniculitis-dermatosis syndrome | 1 test |
| Infertility disorder | 1 test |
| Inflammatory bowel disease | 2 tests |
| Inflammatory bowel disease 25 | 3 tests |
| Inflammatory bowel disease 28 | 3 tests |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 2 tests |
| Inflammatory skin and bowel disease, neonatal, 1 | 2 tests |
| Inherited renal cancer-predisposing syndrome | 1 test |
| Inherited rippling muscle disease | 2 tests |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 test |
| Intestinal hypomagnesemia 1 | 1 test |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 3 tests |
| Irinotecan response | 2 tests |
| Jervell and Lange-Nielsen syndrome | 4 tests |
| Joubert syndrome 10 | 1 test |
| Junctional epidermolysis bullosa | 1 test |
| Juvenile arthritis due to defect in LACC1 | 1 test |
| Juvenile myelomonocytic leukemia | 1 test |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 1 test |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 4 tests |
| Kabuki syndrome 1 | 1 test |
| Kabuki syndrome 2 | 1 test |
| Karyomegalic interstitial nephritis | 1 test |
| Kearns-Sayre syndrome | 1 test |
| Kennedy disease | 1 test |
| Keppen-Lubinsky syndrome | 1 test |
| Keratitis fugax hereditaria | 1 test |
| Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | 1 test |
| Ketamine response | 1 test |
| Kidney disorder | 1 test |
| Kindler syndrome | 1 test |
| Klinefelter syndrome | 2 tests |
| Kostmann syndrome | 1 test |
| Kyphoscoliotic Ehlers-Danlos syndrome | 2 tests |
| L-2-hydroxyglutaric aciduria | 2 tests |
| LCAT deficiency | 1 test |
| LIPE-related familial partial lipodystrophy | 1 test |
| LRP5-related primary osteoporosis | 1 test |
| Larsen-like syndrome, B3GAT3 type | 2 tests |
| Late-infantile/juvenile Krabbe disease | 1 test |
| Lateral meningocele syndrome | 1 test |
| Lathosterolosis | 1 test |
| Lazy leukocyte syndrome | 1 test |
| Left ventricular noncompaction | 6 tests |
| Left ventricular noncompaction cardiomyopathy | 6 tests |
| Legius syndrome | 1 test |
| Leigh Syndrome (mtDNA mutation) | 1 test |
| Leigh Syndrome (nuclear DNA mutation) | 1 test |
| Leigh syndrome | 2 tests |
| Leigh syndrome due to mitochondrial complex IV deficiency | 1 test |
| Leigh syndrome due to mitochondrial complex V deficiency | 1 test |
| Lesch-Nyhan syndrome | 2 tests |
| Leukemia, acute myeloid, susceptibility to | 1 test |
| Leukocyte adhesion deficiency | 2 tests |
| Leukocyte adhesion deficiency 1 | 1 test |
| Liddle syndrome 1 | 1 test |
| Liddle syndrome 2 | 1 test |
| Limb-girdle muscular dystrophy | 5 tests |
| Lipase deficiency, combined | 1 test |
| Lipodystrophy | 1 test |
| Lipogranulomatosis | 1 test |
| Loeys-Dietz syndrome | 4 tests |
| Loeys-Dietz syndrome 1 | 2 tests |
| Loeys-Dietz syndrome 2 | 2 tests |
| Long QT syndrome | 8 tests |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 test |
| Lowe syndrome | 2 tests |
| Lymphoblastic leukemia, acute, with lymphomatous features | 1 test |
| Lymphoma, non-Hodgkin, familial | 1 test |
| Lymphoproliferative syndrome 1 | 3 tests |
| Lymphoproliferative syndrome 2 | 4 tests |
| Lynch syndrome | 2 tests |
| Lynch syndrome 8 | 1 test |
| Lysinuric protein intolerance | 1 test |
| Lysosomal acid lipase deficiency | 2 tests |
| Lysosomal storage disease | 3 tests |
| MASS syndrome | 4 tests |
| MEND syndrome | 1 test |
| MOGS-congenital disorder of glycosylation | 1 test |
| MPI-congenital disorder of glycosylation | 1 test |
| MYO5B-related progressive familial intrahepatic cholestasis | 1 test |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 2 tests |
| Majeed syndrome | 1 test |
| Malignant hematological disorder | 1 test |
| Malignant lymphoma, large B-cell, diffuse | 2 tests |
| Mandibuloacral dysplasia with type B lipodystrophy | 2 tests |
| Mantle cell lymphoma | 1 test |
| Maple syrup urine disease | 1 test |
| Marfan syndrome | 4 tests |
| McLeod neuroacanthocytosis syndrome | 1 test |
| Meconium ileus | 1 test |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 tests |
| Meester-Loeys syndrome | 2 tests |
| Melanoma | 1 test |
| Melnick-Needles syndrome | 3 tests |
| Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | 1 test |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 4 tests |
| Menkes kinky-hair syndrome | 2 tests |
| Mercaptopurine response | 1 test |
| Metabolic myopathy | 1 test |
| Metachondromatosis | 1 test |
| Metachromatic leukodystrophy | 2 tests |
| Metaphyseal chondrodysplasia, McKusick type | 1 test |
| Metaphyseal dysplasia without hypotrichosis | 1 test |
| Methadone response | 1 test |
| Methylmalonic acidemia | 4 tests |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 1 test |
| Mevalonic aciduria | 3 tests |
| Migraine | 1 test |
| Miscarriage | 1 test |
| Mitochondrial complex 4 deficiency, nuclear type 11 | 1 test |
| Mitochondrial complex I deficiency | 5 tests |
| Mitochondrial complex I deficiency, mitochondrial type | 1 test |
| Mitochondrial complex II deficiency, nuclear type 1 | 1 test |
| Mitochondrial complex III deficiency | 1 test |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 4 tests |
| Mitochondrial disease | 5 tests |
| Mitochondrial disorder due to a defect in mitochondrial protein synthesis | 1 test |
| Mitochondrial encephalomyopathy | 1 test |
| Mitochondrial encephalopathy | 1 test |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 3 tests |
| Mitochondrial myopathy with diabetes | 1 test |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 1 test |
| Mitochondrial myopathy, isolated | 1 test |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 1 test |
| Mitochondrial neurogastrointestinal encephalomyopathy | 1 test |
| Mitochondrial oxidative phosphorylation disorder | 1 test |
| Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA | 1 test |
| Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA | 1 test |
| Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies | 1 test |
| Mitochondrial trifunctional protein deficiency | 1 test |
| Monocytopenia with susceptibility to infections | 3 tests |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 1 test |
| Motor neuron disease | 1 test |
| Moyamoya disease | 3 tests |
| Mucolipidosis type II | 1 test |
| Mucopolysaccharidoses, unclassified types | 1 test |
| Mucopolysaccharidosis | 5 tests |
| Mucopolysaccharidosis type 1 | 3 tests |
| Mucopolysaccharidosis type 6 | 4 tests |
| Mucopolysaccharidosis type 7 | 4 tests |
| Mucopolysaccharidosis, MPS-II | 5 tests |
| Mucopolysaccharidosis, MPS-III-A | 4 tests |
| Mucopolysaccharidosis, MPS-III-B | 4 tests |
| Mucopolysaccharidosis, MPS-III-C | 4 tests |
| Mucopolysaccharidosis, MPS-III-D | 2 tests |
| Mucopolysaccharidosis, MPS-IV-A | 4 tests |
| Mucopolysaccharidosis, MPS-IV-B | 4 tests |
| Mucosa-associated lymphoma | 1 test |
| Multiple acyl-CoA dehydrogenase deficiency | 4 tests |
| Multiple cutaneous and mucosal venous malformations | 2 tests |
| Multiple endocrine neoplasia, type 2 | 1 test |
| Multiple gastrointestinal atresias | 1 test |
| Multiple self-healing squamous epithelioma | 2 tests |
| Multiple sulfatase deficiency | 5 tests |
| Muscular dystrophy | 1 test |
| Muscular dystrophy-dystroglycanopathy | 3 tests |
| Myelodysplastic syndrome | 2 tests |
| Myofibrillar myopathy | 6 tests |
| Myopathy with giant abnormal mitochondria | 1 test |
| Myopathy, lactic acidosis, and sideroblastic anemia | 1 test |
| Myopathy, tubular aggregate, 1 | 4 tests |
| Myopathy, tubular aggregate, 2 | 1 test |
| Myosin storage myopathy | 3 tests |
| NARP syndrome | 2 tests |
| Nail-patella syndrome | 1 test |
| Naxos disease | 5 tests |
| Nemaline myopathy | 3 tests |
| Neonatal Marfan syndrome | 4 tests |
| Neonatal severe primary hyperparathyroidism | 2 tests |
| Nephrogenic diabetes insipidus | 1 test |
| Nephrogenic syndrome of inappropriate antidiuresis | 1 test |
| Nephrolithiasis/nephrocalcinosis | 1 test |
| Nephronophthisis | 1 test |
| Nephrotic syndrome | 1 test |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 test |
| Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | 1 test |
| Neurohypophyseal diabetes insipidus | 1 test |
| Neuromuscular disease | 1 test |
| Neuronal ceroid lipofuscinosis | 2 tests |
| Neuronal ceroid lipofuscinosis 1 | 2 tests |
| Neuronal ceroid lipofuscinosis 2 | 2 tests |
| Neuronopathy, distal hereditary motor, type 2A | 1 test |
| Neuronopathy, distal hereditary motor, type 2B | 1 test |
| Neuronopathy, distal hereditary motor, type 2D | 1 test |
| Neuronopathy, distal hereditary motor, type 5A | 1 test |
| Neuronopathy, distal hereditary motor, type 5C | 1 test |
| Neuronopathy, distal hereditary motor, type 7A | 1 test |
| Neuronopathy, distal hereditary motor, type 7B | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 1A | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 1C | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 2A | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 2B | 1 test |
| Neuropathy, hereditary sensory and autonomic, type IId | 1 test |
| Neuropathy, hereditary sensory, type 1D | 1 test |
| Neuropathy, hereditary sensory, type 1F | 1 test |
| Neuropathy, hereditary sensory, type 2C | 1 test |
| Neutropenia, severe congenital, 1, autosomal dominant | 1 test |
| Neutropenia, severe congenital, 2, autosomal dominant | 1 test |
| Neutropenia, severe congenital, 8, autosomal dominant | 1 test |
| Neutropenia, severe congenital, 9, autosomal dominant | 1 test |
| Neutrophil immunodeficiency syndrome | 3 tests |
| Nevirapine response | 1 test |
| Nicotine dependence | 1 test |
| Niemann-Pick disease, type A | 7 tests |
| Niemann-Pick disease, type B | 7 tests |
| Niemann-Pick disease, type C | 3 tests |
| Nijmegen breakage syndrome-like disorder | 1 test |
| Nilotinib response | 2 tests |
| Nodular fasciitis | 1 test |
| Non-small cell lung carcinoma | 1 test |
| Nonimmune chronic idiopathic neutropenia of adults | 1 test |
| Nonsteroidal anti-inflammatory drug response | 1 test |
| Nonsyndromic congenital nail disorder 8 | 1 test |
| Noonan syndrome | 6 tests |
| Noonan syndrome and Noonan-related syndrome | 5 tests |
| Noonan syndrome with multiple lentigines | 5 tests |
| Noonan syndrome-like disorder with loose anagen hair | 6 tests |
| Noonan-like syndrome | 1 test |
| Norum disease | 1 test |
| Obesity due to prohormone convertase I deficiency | 1 test |
| Odontohypophosphatasia | 1 test |
| Oligosaccharidosis | 1 test |
| Ondansetron response | 1 test |
| Ophthalmoplegic neuromuscular disorder with abnormal mitochondria | 1 test |
| Orofaciodigital syndrome I | 2 tests |
| Osteogenesis imperfecta | 3 tests |
| Osteogenesis imperfecta type 10 | 1 test |
| Osteogenesis imperfecta type 11 | 1 test |
| Osteogenesis imperfecta type 12 | 1 test |
| Osteogenesis imperfecta type 13 | 1 test |
| Osteogenesis imperfecta type 14 | 1 test |
| Osteogenesis imperfecta type 15 | 1 test |
| Osteogenesis imperfecta type 16 | 1 test |
| Osteogenesis imperfecta type 17 | 3 tests |
| Osteogenesis imperfecta type 5 | 1 test |
| Osteogenesis imperfecta type 6 | 1 test |
| Osteogenesis imperfecta type 7 | 1 test |
| Osteogenesis imperfecta type 8 | 1 test |
| Osteogenesis imperfecta type 9 | 1 test |
| Osteogenesis imperfecta type I | 1 test |
| Osteogenesis imperfecta type III | 1 test |
| Osteogenesis imperfecta, CREB3L1 related | 1 test |
| Osteogenesis imperfecta, type III/IV | 1 test |
| Osteootohepatoenteric syndrome | 1 test |
| Osteopetrosis with renal tubular acidosis | 1 test |
| Otofaciocervical syndrome 2 | 2 tests |
| Otopalatodigital Spectrum Disorders | 3 tests |
| PLIN1-related familial partial lipodystrophy | 1 test |
| PMM2-congenital disorder of glycosylation | 4 tests |
| POLR3-related leukodystrophy | 1 test |
| PPARG-related familial partial lipodystrophy | 1 test |
| PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC | 1 test |
| PTEN hamartoma tumor syndrome | 1 test |
| Pancreatic adenocarcinoma | 1 test |
| Pancytopenia due to IKZF1 mutations | 2 tests |
| Parkinson disease | 1 test |
| Paroxetine response | 2 tests |
| Partial adenosine deaminase deficiency | 4 tests |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 1 test |
| Pazopanib response | 3 tests |
| Pearson syndrome | 1 test |
| Peginterferon alfa-2a response | 1 test |
| Peginterferon alfa-2b response | 1 test |
| Pegloticase response | 1 test |
| Pelger-Huet-like anomaly and episodic fever with abdominal pain | 1 test |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 2 tests |
| Peripheral neuropathy | 2 tests |
| Periventricular nodular heterotopia | 3 tests |
| Peroxisome biogenesis disorder | 6 tests |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
| Peutz-Jeghers syndrome | 1 test |
| Phenylketonuria | 1 test |
| Phenytoin response | 2 tests |
| Phenytoin toxicity | 2 tests |
| Phosphate transport defect | 1 test |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 1 test |
| Phosphoribosylpyrophosphate synthetase superactivity | 1 test |
| Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 test |
| Pityriasis rubra pilaris | 1 test |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 2 tests |
| Poikiloderma with neutropenia | 2 tests |
| Polycystic kidney disease | 1 test |
| Polycystic liver disease 4 with or without kidney cysts | 1 test |
| Polyendocrinopathy | 1 test |
| Polyglandular autoimmune syndrome, type 1 | 2 tests |
| Polyglucosan body myopathy | 1 test |
| Polyglucosan body myopathy 1 with immunodeficiency | 1 test |
| Polyglucosan body myopathy 1 without immunodeficiency | 1 test |
| Polyglucosan body myopathy type 1 | 1 test |
| Porokeratosis | 1 test |
| Porokeratosis 3, disseminated superficial actinic type | 2 tests |
| Porphobilinogen synthase deficiency | 2 tests |
| Porphyria | 3 tests |
| Porphyria cutanea tarda | 5 tests |
| Prader-Willi syndrome | 1 test |
| Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | 1 test |
| Precursor B-cell acute lymphoblastic leukemia | 1 test |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 1 test |
| Premature ovarian failure | 1 test |
| Premature ovarian failure 1 | 1 test |
| Primary CD59 deficiency | 1 test |
| Primary ciliary dyskinesia | 1 test |
| Primary dilated cardiomyopathy | 7 tests |
| Primary familial dilated cardiomyopathy | 7 tests |
| Primary familial hypertrophic cardiomyopathy | 6 tests |
| Primary hyperoxaluria | 2 tests |
| Primary hyperoxaluria type 3 | 2 tests |
| Primary hyperoxaluria, type I | 2 tests |
| Primary hyperoxaluria, type II | 2 tests |
| Primary immunodeficiency with predisposition to severe viral infection | 1 test |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 4 tests |
| Progressive external ophthalmoplegia | 1 test |
| Progressive familial intrahepatic cholestasis | 1 test |
| Progressive familial intrahepatic cholestasis type 3 | 1 test |
| Prolidase deficiency | 1 test |
| Propionic acidemia | 6 tests |
| Proteasome-associated autoinflammatory syndrome 1 | 1 test |
| Proteasome-associated autoinflammatory syndrome 2 | 1 test |
| Proteasome-associated autoinflammatory syndrome 3 | 1 test |
| Proteasome-associated autoinflammatory syndrome 4 | 1 test |
| Proteasome-associated autoinflammatory syndrome 5 | 1 test |
| Protein-losing enteropathy | 2 tests |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 test |
| Proton pump inhibitor response | 1 test |
| Proximal renal tubular acidosis | 1 test |
| Pseudo-TORCH syndrome | 1 test |
| Pseudo-TORCH syndrome 2 | 1 test |
| Pseudo-TORCH syndrome 3 | 2 tests |
| Pseudohypoaldosteronism type 1 | 1 test |
| Pseudohypoaldosteronism type 2B | 1 test |
| Pseudohypoaldosteronism type 2C | 1 test |
| Pseudohypoaldosteronism type 2D | 1 test |
| Pseudohypoaldosteronism type 2E | 1 test |
| Psoriasis 13, susceptibility to | 1 test |
| Psoriasis 2 | 1 test |
| Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 test |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 1 test |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 test |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 1 test |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | 1 test |
| Pulmonary fibrosis, idiopathic, susceptibility to | 1 test |
| Pulmonary hypertension, familial primary, 1, with or without HHT | 1 test |
| Pure gonadal dysgenesis 46,XY | 1 test |
| Pure mitochondrial myopathy | 1 test |
| Purine-nucleoside phosphorylase deficiency | 1 test |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 test |
| Pyropoikilocytosis, hereditary | 2 tests |
| Pyruvate kinase deficiency of red cells | 3 tests |
| Qualitative or quantitative defects of dystrophin | 1 test |
| RASopathy | 6 tests |
| RIDDLE syndrome | 1 test |
| Rasburicase response | 1 test |
| Recombinase activating gene 2 deficiency | 2 tests |
| Reducing body myopathy | 3 tests |
| Renal carnitine transport defect | 4 tests |
| Renal cysts and diabetes syndrome | 1 test |
| Renal hypomagnesemia 2 | 1 test |
| Renal hypomagnesemia 4 | 1 test |
| Renal hypomagnesemia 5 with ocular involvement | 1 test |
| Renal hypomagnesemia 6 | 1 test |
| Renal tubular acidosis with progressive nerve deafness | 1 test |
| Renal-hepatic-pancreatic dysplasia | 1 test |
| Reticular dysgenesis | 2 tests |
| Retinal dystrophy and microvillus inclusion disease | 1 test |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2 tests |
| Retinitis pigmentosa and erythrocytic microcytosis | 3 tests |
| Revesz syndrome | 1 test |
| Rh-null, regulator type | 1 test |
| Rhabdomyolysis | 1 test |
| Rhizomelic chondrodysplasia punctata | 3 tests |
| Ribavirin response | 1 test |
| Rippling muscle disease | 2 tests |
| Rosuvastatin response | 1 test |
| Russell-Silver syndrome | 1 test |
| SCID due to ADA deficiency, delayed onset | 1 test |
| SHORT syndrome | 5 tests |
| STAT3-related early-onset multisystem autoimmune disease | 4 tests |
| STING-associated vasculopathy with onset in infancy | 1 test |
| Sandhoff disease | 1 test |
| Schimke immuno-osseous dysplasia | 2 tests |
| Selective serotonin reuptake inhibitor response | 2 tests |
| Sertraline response | 2 tests |
| Severe combined immunodeficiency disease | 4 tests |
| Severe combined immunodeficiency due to CARD11 deficiency | 7 tests |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 4 tests |
| Severe combined immunodeficiency due to CD70 deficiency | 4 tests |
| Severe combined immunodeficiency due to CORO1A deficiency | 3 tests |
| Severe combined immunodeficiency due to CTPS1 deficiency | 3 tests |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 1 test |
| Severe combined immunodeficiency due to LAT deficiency | 1 test |
| Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency | 1 test |
| Severe combined immunodeficiency, B cell-negative | 1 test |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 3 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 2 tests |
| Severe congenital neutropenia | 4 tests |
| Sex-linked hereditary disorder | 3 tests |
| Short QT syndrome | 5 tests |
| Shprintzen-Goldberg syndrome | 2 tests |
| Shwachman syndrome | 1 test |
| Shwachman-Diamond syndrome 1 | 1 test |
| Shwachman-Diamond syndrome 2 | 1 test |
| Sick sinus syndrome | 6 tests |
| Silver-Russell syndrome 1 | 1 test |
| Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | 1 test |
| Simpson-Golabi-Behmel syndrome type 2 | 1 test |
| Simvastatin response | 1 test |
| Singleton-Merten syndrome 1 | 3 tests |
| Singleton-Merten syndrome 2 | 1 test |
| Sinus histiocytosis with massive lymphadenopathy | 1 test |
| Sitosterolemia | 2 tests |
| Smith-Lemli-Opitz syndrome | 2 tests |
| Sneddon syndrome | 4 tests |
| Solid tumor | 3 tests |
| Southeast Asian ovalocytosis | 2 tests |
| Spastic paraplegia | 1 test |
| Specific granule deficiency 1 | 1 test |
| Specific granule deficiency 2 | 1 test |
| Sphingolipid activator protein 1 deficiency | 1 test |
| Spinal muscular atrophy | 3 tests |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 tests |
| Spinocerebellar ataxia 49 | 1 test |
| Spinocerebellar ataxia 7 | 1 test |
| Spinocerebellar ataxia type 1 | 1 test |
| Spinocerebellar ataxia type 2 | 1 test |
| Spinocerebellar ataxia type 6 | 1 test |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 test |
| Spondylo-ocular syndrome | 1 test |
| Spondylodysplastic Ehlers-Danlos syndrome | 2 tests |
| Spondyloenchondrodysplasia with immune dysregulation | 1 test |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 2 tests |
| Stage IV Non-Small Cell Lung Cancer | 1 test |
| Statin causing adverse effect in therapeutic use | 1 test |
| Statin-induced myopathy | 1 test |
| Sterile multifocal osteomyelitis with periostitis and pustulosis | 1 test |
| Stiff skin syndrome | 4 tests |
| Stormorken syndrome | 4 tests |
| Stuve-Wiedemann syndrome 2 | 1 test |
| Subcutaneous panniculitis-like T-cell lymphoma | 1 test |
| Sucrase-isomaltase deficiency | 1 test |
| Sudden unexplained death | 1 test |
| Sulfite oxidase deficiency | 1 test |
| Supravalvar aortic stenosis | 1 test |
| Susceptibility to HIV infection | 2 tests |
| Susceptibility to respiratory infections associated with CD8alpha chain mutation | 1 test |
| Symmetrical dyschromatosis of extremities | 1 test |
| Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) | 1 test |
| Syndromic congenital sodium diarrhea | 1 test |
| Syndromic intellectual disability | 1 test |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 3 tests |
| Systemic lupus erythematosus 17 | 2 tests |
| Systemic lupus erythematosus, susceptibility to, 1 | 1 test |
| Systemic mast cell disease | 1 test |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 1 test |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 test |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 test |
| Tacrolimus response | 1 test |
| Tafenoquine response | 1 test |
| Tamoxifen response | 1 test |
| Tay-Sachs disease | 1 test |
| Telomere syndrome | 1 test |
| Terminal osseous dysplasia-pigmentary defects syndrome | 3 tests |
| Tetralogy of Fallot | 1 test |
| Tetraploidy syndrome | 1 test |
| Thioguanine response | 1 test |
| Thiopurine S-methyltransferase deficiency | 1 test |
| Thiopurine metabolic disease | 1 test |
| Thiopurine response | 1 test |
| Thiopurines, poor metabolism of, 2 | 1 test |
| Thrombocytopenia 1 | 2 tests |
| Thrombocytopenia, X-linked, intermittent | 2 tests |
| Thrombomodulin-related bleeding disorder | 1 test |
| Thrombophilia | 1 test |
| Thrombophilia due to protein C deficiency, autosomal dominant | 1 test |
| Thrombophilia due to protein C deficiency, autosomal recessive | 1 test |
| Thrombotic microangiopathy | 1 test |
| Thyroid dyshormonogenesis 6 | 1 test |
| Thyroid gland carcinoma | 1 test |
| Tibial muscular dystrophy | 5 tests |
| Tolbutamide response | 1 test |
| Transient bullous dermolysis of the newborn | 1 test |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 1 test |
| Trichohepatoenteric syndrome | 2 tests |
| Trichohepatoenteric syndrome 1 | 1 test |
| Trichohepatoenteric syndrome 2 | 2 tests |
| Tricyclic antidepressant response | 2 tests |
| Triosephosphate isomerase deficiency | 2 tests |
| Triploidy | 1 test |
| Trisomy | 1 test |
| Trisomy 18 | 3 tests |
| Trisomy X syndrome | 1 test |
| Tropisetron response | 1 test |
| Tuberous sclerosis 1 | 1 test |
| Tuberous sclerosis 2 | 1 test |
| Tuberous sclerosis syndrome | 2 tests |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 1 test |
| Tumoral calcinosis, hyperphosphatemic, familial, 2 | 1 test |
| Tumoral calcinosis, hyperphosphatemic, familial, 3 | 1 test |
| Turner syndrome | 4 tests |
| Twinning, monozygotic | 1 test |
| Tyrosinemia | 1 test |
| Tyrosinemia type I | 1 test |
| Uniparental disomy of maternal origin | 1 test |
| Uniparental disomy of paternal origin | 1 test |
| Upshaw-Schulman syndrome | 1 test |
| VACTERL association | 1 test |
| Varicella, severe recurrent | 1 test |
| Variegate porphyria | 6 tests |
| Vasculitis due to ADA2 deficiency | 4 tests |
| Velocardiofacial syndrome | 1 test |
| Venous thromboembolism, susceptibility to | 1 test |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 6 tests |
| Ventricular fibrillation | 6 tests |
| Ventriculomegaly-cystic kidney disease | 2 tests |
| Very long chain acyl-CoA dehydrogenase deficiency | 6 tests |
| Vitamin B12-responsive methylmalonic acidemia | 1 test |
| Vitamin D hydroxylation-deficient rickets, type 1B | 1 test |
| Vitamin D-dependent rickets, type 1 | 1 test |
| Von Hippel-Lindau syndrome | 2 tests |
| Voriconazole response | 1 test |
| WHIM syndrome 1 | 1 test |
| WHIM syndrome 2 | 1 test |
| Warfarin response | 2 tests |
| Warts, hypogammaglobulinemia, infections, and myelokathexis | 2 tests |
| Weill-Marchesani syndrome | 3 tests |
| Wiedemann-Steiner syndrome | 1 test |
| Wilms tumor 1 | 1 test |
| Wilson disease | 2 tests |
| Wiskott-Aldrich syndrome | 5 tests |
| Wiskott-Aldrich syndrome 2 | 3 tests |
| Wolff-Parkinson-White pattern | 5 tests |
| Wolman disease | 2 tests |
| X-linked Alport syndrome | 1 test |
| X-linked Emery-Dreifuss muscular dystrophy | 3 tests |
| X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | 1 test |
| X-linked agammaglobulinemia | 3 tests |
| X-linked agammaglobulinemia with growth hormone deficiency | 1 test |
| X-linked cerebral adrenoleukodystrophy | 3 tests |
| X-linked distal spinal muscular atrophy type 3 | 2 tests |
| X-linked erythropoietic protoporphyria | 5 tests |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 2 tests |
| X-linked intellectual disability with marfanoid habitus | 2 tests |
| X-linked intellectual disability, van Esch type | 2 tests |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 7 tests |
| X-linked lymphoproliferative disease due to XIAP deficiency | 7 tests |
| X-linked lymphoproliferative syndrome | 6 tests |
| X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency | 1 test |
| X-linked myopathy with postural muscle atrophy | 3 tests |
| X-linked osteoporosis with fractures | 1 test |
| X-linked reticulate pigmentary disorder | 2 tests |
| X-linked severe combined immunodeficiency | 1 test |
| X-linked severe congenital neutropenia | 5 tests |
| X-linked spondyloepimetaphyseal dysplasia | 2 tests |
| Xanthinuria type II | 1 test |
| Xerocytosis | 1 test |
| ZAP70-Related Severe Combined Immunodeficiency | 3 tests |
| Zellweger spectrum disorders | 4 tests |
| delta Thalassemia | 3 tests |
| methadone response - Dosage | 1 test |