ARUP Laboratories, Molecular Genetics and Genomics (ARUP Laboratories)
General information
ARUP Laboratories, Molecular Genetics and Genomics
ARUP Laboratories
500 Chipeta Way
Salt Lake City
Utah
United States - 84108
http://www.aruplab.com/genetics
Organization ID: 25969
ARUP Laboratories
500 Chipeta Way
Salt Lake City
Utah
United States - 84108
http://www.aruplab.com/genetics
Organization ID: 25969
Personnel
- Rong Mao, Medical Director
Phone: (801) 583-2787
Email: ClinVar@aruplab.com - Hunter Best, Medical Director
Phone: (801) 583-2787
Email: ClinVar@aruplab.com - Kelsey Cone, Variant scientist/curator
Phone: (801) 583-2787
Email: ClinVar@aruplab.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 30010
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2M | 1 | Jan 24, 2024 |
| A2ML1 | 1 | Jan 24, 2024 |
| AARS1 | 39 | Jan 9, 2026 |
| ABAT | 5 | Jan 9, 2026 |
| ABCA2 | 2 | Jan 4, 2022 |
| ABCA3 | 1 | Jan 24, 2024 |
| ABCA4 | 47 | Jan 24, 2024 |
| ABCB6 | 1 | Dec 11, 2020 |
| ABCB7 | 3 | Jan 24, 2024 |
| ABCC8 | 36 | Jan 9, 2026 |
| ABCC9 | 43 | Jan 9, 2026 |
| ABCD1 | 35 | Jan 4, 2022 |
| ABCD3 | 2 | Jan 24, 2024 |
| ABCD4 | 10 | Jan 9, 2026 |
| ABL1 | 1 | Jan 28, 2025 |
| ABLIM3 | 1 | Jan 24, 2024 |
| ACACA | 1 | Aug 5, 2019 |
| ACACB | 2 | Jan 6, 2023 |
| ACAD11 | 1 | Jan 24, 2024 |
| ACAD9 | 8 | Jan 9, 2026 |
| ACADL | 3 | Jan 24, 2024 |
| ACADM | 95 | Jan 9, 2026 |
| ACADS | 8 | Jan 9, 2026 |
| ACADVL | 168 | Jan 9, 2026 |
| ACAT1 | 14 | Jan 9, 2026 |
| ACBD5 | 1 | Jan 24, 2024 |
| ACD | 12 | Jan 9, 2026 |
| ACO2 | 2 | Jan 9, 2026 |
| ACOT7 | 1 | Jan 24, 2024 |
| ACOX2 | 1 | Jan 24, 2024 |
| ACOX3 | 2 | Jan 28, 2025 |
| ACSF3 | 12 | Jan 9, 2026 |
| ACTA1 | 1 | Aug 5, 2019 |
| ACTA2 | 18 | Jan 9, 2026 |
| ACTA2-AS1 | 4 | Jan 28, 2025 |
| ACTC1 | 9 | Jan 9, 2026 |
| ACTG1 | 9 | Jan 24, 2024 |
| ACTN2 | 27 | Jan 9, 2026 |
| ACVRL1 | 160 | Jan 9, 2026 |
| ADA | 15 | Jan 9, 2026 |
| ADA2 | 10 | Jan 9, 2026 |
| ADAMTSL1 | 1 | Dec 11, 2020 |
| ADAT3 | 1 | Jan 9, 2026 |
| ADGRG1 | 6 | Jan 9, 2026 |
| ADGRL1 | 1 | Jan 28, 2025 |
| ADGRL1-AS1 | 1 | Jan 28, 2025 |
| ADGRV1 | 67 | Jan 24, 2024 |
| ADK | 4 | Jan 28, 2025 |
| ADK-AS1 | 1 | Jan 24, 2024 |
| AFF2 | 2 | Jan 9, 2026 |
| AFF4 | 3 | Jan 9, 2026 |
| AFG2A | 1 | Jan 28, 2025 |
| AFG2B | 1 | Jan 24, 2024 |
| AFG3L2 | 1 | Jan 24, 2024 |
| AGA | 1 | Jan 9, 2026 |
| AGL | 47 | Jan 9, 2026 |
| AGPS | 18 | Jan 9, 2026 |
| AGXT | 2 | Jan 28, 2025 |
| AHCY | 5 | Jan 9, 2026 |
| AHI1 | 2 | Jan 24, 2024 |
| AHNAK2 | 1 | Dec 11, 2020 |
| AICDA | 5 | Jan 9, 2026 |
| AIFM1 | 8 | Jan 28, 2025 |
| AIPL1 | 9 | Jan 24, 2024 |
| AK1 | 26 | Jan 9, 2026 |
| AKAP9 | 37 | Jan 24, 2024 |
| AKT1 | 6 | Jan 9, 2026 |
| ALAS2 | 10 | Jan 9, 2026 |
| ALDH3A2 | 1 | Jan 6, 2023 |
| ALDH5A1 | 3 | Jan 9, 2026 |
| ALDH7A1 | 5 | Jan 9, 2026 |
| ALDOA | 21 | Jan 9, 2026 |
| ALDOB | 3 | Jan 9, 2026 |
| ALG1 | 13 | Jan 9, 2026 |
| ALG11 | 3 | Jan 24, 2024 |
| ALG12 | 1 | Jan 28, 2025 |
| ALG13 | 7 | Jan 28, 2025 |
| ALG3 | 1 | Jan 9, 2026 |
| ALG6 | 6 | Jan 9, 2026 |
| ALG8 | 6 | Jan 9, 2026 |
| ALG9 | 4 | Jan 9, 2026 |
| ALK | 39 | Jan 9, 2026 |
| ALMS1 | 77 | Jan 9, 2026 |
| ALPK3 | 57 | Jan 9, 2026 |
| ALPL | 39 | Jan 9, 2026 |
| ALS2 | 5 | Jan 24, 2024 |
| AMACR | 3 | Jan 28, 2025 |
| AMN | 13 | Jan 9, 2026 |
| AMT | 5 | Jan 9, 2026 |
| ANAPC15 | 1 | Jan 24, 2024 |
| ANK1 | 274 | Jan 9, 2026 |
| ANK2 | 71 | Jan 24, 2024 |
| ANK3 | 1 | Jan 24, 2024 |
| ANKRD1 | 8 | Jan 24, 2024 |
| ANKRD11 | 25 | Jan 9, 2026 |
| ANKRD18A | 1 | Jan 9, 2026 |
| ANKRD24 | 1 | Jan 4, 2022 |
| ANKRD26 | 51 | Jan 9, 2026 |
| ANKRD28 | 1 | Jan 9, 2026 |
| ANKS6 | 3 | Jan 6, 2023 |
| ANO5 | 14 | Jan 9, 2026 |
| ANXA6 | 1 | Jan 24, 2024 |
| AOPEP | 9 | Jan 9, 2026 |
| AP3B2 | 6 | Jan 9, 2026 |
| APBB2 | 2 | Jan 9, 2026 |
| APC | 162 | Jan 9, 2026 |
| APC2 | 2 | Jan 28, 2025 |
| APOB | 150 | Jan 9, 2026 |
| APOM | 1 | Jan 24, 2024 |
| APP | 13 | Jan 9, 2026 |
| APPL1 | 11 | Jan 9, 2026 |
| APTX | 7 | Jan 24, 2024 |
| AR | 1 | Jan 24, 2024 |
| ARCN1 | 1 | Jan 15, 2020 |
| AREL1 | 1 | Jan 9, 2026 |
| ARF1 | 1 | Mar 9, 2022 |
| ARFGEF1 | 2 | Jan 24, 2024 |
| ARFGEF2 | 12 | Jan 9, 2026 |
| ARG1 | 1 | Jan 9, 2026 |
| ARHGAP27 | 1 | Dec 11, 2020 |
| ARHGAP4 | 1 | Jan 24, 2024 |
| ARHGEF10 | 14 | Jan 24, 2024 |
| ARHGEF9 | 1 | Jan 9, 2026 |
| ARID1A | 1 | Jan 24, 2024 |
| ARID1B | 2 | Jan 28, 2025 |
| ARID2 | 1 | Jan 28, 2025 |
| ARL6IP6 | 1 | Dec 11, 2020 |
| ARRDC2 | 1 | Jan 24, 2024 |
| ARSL | 18 | Jan 9, 2026 |
| ART1 | 1 | Jan 24, 2024 |
| ARV1 | 2 | Jan 9, 2026 |
| ARVCF | 1 | Jan 9, 2026 |
| ARX | 2 | Jan 28, 2025 |
| ASAH1 | 6 | Jan 9, 2026 |
| ASB11 | 1 | Dec 11, 2020 |
| ASB14 | 3 | Jan 9, 2026 |
| ASB16 | 1 | Dec 11, 2020 |
| ASB16-AS1 | 1 | Dec 11, 2020 |
| ASL | 1 | Jan 24, 2024 |
| ASS1 | 19 | Jan 24, 2024 |
| ASTE1 | 1 | Jan 24, 2024 |
| ATAD1 | 1 | Jan 6, 2023 |
| ATF7IP2 | 1 | Dec 11, 2020 |
| ATL1 | 10 | Jan 28, 2025 |
| ATM | 196 | Jan 9, 2026 |
| ATN1 | 7 | Jan 9, 2026 |
| ATP13A2 | 1 | Dec 11, 2020 |
| ATP1A1 | 5 | Jan 9, 2026 |
| ATP1A1-AS1 | 2 | Jan 9, 2026 |
| ATP1A2 | 1 | Jan 24, 2024 |
| ATP1A3 | 4 | Jan 9, 2026 |
| ATP2B1 | 1 | Jan 28, 2025 |
| ATP2B3 | 1 | Jan 24, 2024 |
| ATP6AP1 | 2 | Jan 9, 2026 |
| ATP6V0A1 | 2 | Jan 24, 2024 |
| ATP7A | 29 | Jan 9, 2026 |
| ATP7B | 219 | Jan 9, 2026 |
| ATP8A2 | 2 | Jan 9, 2026 |
| ATPAF2 | 5 | Jan 24, 2024 |
| ATR | 22 | Jan 24, 2024 |
| ATRX | 11 | Jan 9, 2026 |
| ATXN7L3-AS1 | 1 | Jan 4, 2022 |
| AUTS2 | 1 | Jan 28, 2025 |
| AVPR2 | 1 | Jan 24, 2024 |
| AXIN2 | 39 | Jan 9, 2026 |
| B3GALT1 | 1 | Dec 11, 2020 |
| B3GALT1-AS1 | 1 | Dec 11, 2020 |
| B3GALT6 | 1 | Dec 11, 2020 |
| BAG3 | 31 | Jan 9, 2026 |
| BAP1 | 18 | Jan 9, 2026 |
| BARD1 | 30 | Jan 9, 2026 |
| BCAR3 | 2 | Dec 11, 2020 |
| BCHE | 2 | Jan 9, 2026 |
| BCKDHA | 5 | Jan 24, 2024 |
| BCKDHB | 1 | Oct 10, 2018 |
| BCKDK | 2 | Jan 9, 2026 |
| BCORL1 | 1 | Jan 9, 2026 |
| BCS1L | 1 | Jan 24, 2024 |
| BEST1 | 8 | Jan 24, 2024 |
| BEST3 | 1 | Jan 24, 2024 |
| BGN | 13 | Jan 9, 2026 |
| BICD2 | 25 | Jan 9, 2026 |
| BLK | 12 | Jan 24, 2024 |
| BLK-AS1 | 5 | Jan 24, 2024 |
| BLM | 31 | Jan 9, 2026 |
| BLNK | 9 | Jan 9, 2026 |
| BMP1 | 13 | Jan 9, 2026 |
| BMPR1A | 15 | Jan 9, 2026 |
| BMPR2 | 56 | Jan 9, 2026 |
| BPGM | 3 | Jan 9, 2026 |
| BPTF | 2 | Jan 28, 2025 |
| BRAF | 29 | Jan 9, 2026 |
| BRAT1 | 11 | Jan 9, 2026 |
| BRCA1 | 356 | Jan 9, 2026 |
| BRCA2 | 668 | Jan 9, 2026 |
| BRIP1 | 50 | Jan 9, 2026 |
| BSCL2 | 13 | Jan 9, 2026 |
| BTD | 33 | Jan 9, 2026 |
| BTK | 15 | Jan 9, 2026 |
| C10orf105 | 5 | Jan 24, 2024 |
| C10orf62 | 1 | Jan 24, 2024 |
| C11orf65 | 60 | Jan 9, 2026 |
| C12orf43 | 1 | Jan 28, 2025 |
| C12orf57 | 2 | Jan 9, 2026 |
| C17orf107 | 1 | Jan 28, 2025 |
| C1QTNF3-AMACR | 3 | Jan 28, 2025 |
| C3orf80 | 1 | Jan 24, 2024 |
| C6 | 3 | Jan 24, 2024 |
| C7 | 1 | Jan 24, 2024 |
| CA4 | 6 | Jan 24, 2024 |
| CACNA1A | 25 | Jan 9, 2026 |
| CACNA1B | 1 | Jan 24, 2024 |
| CACNA1C | 89 | Jan 9, 2026 |
| CACNA1C-AS1 | 34 | Jan 9, 2026 |
| CACNA1C-AS2 | 3 | Jan 9, 2026 |
| CACNA1D | 14 | Jan 9, 2026 |
| CACNA1E | 15 | Jan 9, 2026 |
| CACNA1G | 1 | Jan 28, 2025 |
| CACNA1H | 3 | Jan 24, 2024 |
| CACNA1I | 1 | Jan 28, 2025 |
| CACNA1S | 22 | Jan 9, 2026 |
| CACNA2D2 | 9 | Jan 9, 2026 |
| CACNB2 | 18 | Jan 24, 2024 |
| CAD | 13 | Jan 9, 2026 |
| CADM1 | 1 | Jan 24, 2024 |
| CALM1 | 1 | Jan 24, 2024 |
| CALM2 | 4 | Jan 9, 2026 |
| CALM3 | 6 | Jan 9, 2026 |
| CAMK2D | 1 | Aug 5, 2019 |
| CANT1 | 11 | Jan 9, 2026 |
| CARD11 | 18 | Jan 9, 2026 |
| CARD11-AS1 | 1 | Dec 11, 2020 |
| CARD14 | 2 | Dec 11, 2020 |
| CARS2 | 4 | Jan 9, 2026 |
| CASK | 6 | Jan 9, 2026 |
| CASQ2 | 12 | Jan 9, 2026 |
| CASR | 8 | Jan 9, 2026 |
| CATSPERG | 1 | Jan 28, 2025 |
| CAV1 | 7 | Jan 9, 2026 |
| CAV3 | 7 | Jan 24, 2024 |
| CAVIN1 | 2 | Jan 9, 2026 |
| CBL | 34 | Jan 9, 2026 |
| CBLIF | 7 | Jan 28, 2025 |
| CBS | 70 | Jan 9, 2026 |
| CC2D1A | 3 | Jan 9, 2026 |
| CCBE1 | 8 | Jan 9, 2026 |
| CCDC170 | 1 | Dec 11, 2020 |
| CCDC39 | 15 | Jan 9, 2026 |
| CCDC40 | 28 | Jan 9, 2026 |
| CCDC50 | 2 | Oct 10, 2018 |
| CCDC62 | 1 | Jan 6, 2023 |
| CCDC88C | 1 | Jan 28, 2025 |
| CCM2 | 19 | Jan 9, 2026 |
| CCN6 | 6 | Jan 9, 2026 |
| CCNH | 41 | Jan 9, 2026 |
| CCNO | 2 | Jan 9, 2026 |
| CCT5 | 11 | Jan 9, 2026 |
| CD19 | 15 | Jan 9, 2026 |
| CD27 | 2 | Jan 9, 2026 |
| CD27-AS1 | 2 | Jan 9, 2026 |
| CD320 | 4 | Jan 28, 2025 |
| CD36 | 1 | Jan 28, 2025 |
| CD3E | 1 | Jan 9, 2026 |
| CD40 | 8 | Jan 9, 2026 |
| CD40LG | 7 | Jan 9, 2026 |
| CD79A | 5 | Jan 28, 2025 |
| CD79B | 1 | Jan 9, 2026 |
| CD81 | 3 | Jan 24, 2024 |
| CDAN1 | 118 | Jan 9, 2026 |
| CDC42BPB | 1 | Jan 28, 2025 |
| CDC73 | 2 | Jan 9, 2026 |
| CDCA7 | 6 | Jan 9, 2026 |
| CDCA7L | 5 | Jan 9, 2026 |
| CDH1 | 59 | Jan 9, 2026 |
| CDH23 | 46 | Jan 24, 2024 |
| CDH23-AS1 | 2 | Jan 24, 2024 |
| CDHR1 | 9 | Jan 24, 2024 |
| CDK13 | 3 | Jan 28, 2025 |
| CDK20 | 1 | Dec 11, 2020 |
| CDK4 | 3 | Jan 9, 2026 |
| CDK5RAP2 | 2 | Jan 28, 2025 |
| CDKL5 | 4 | Jan 9, 2026 |
| CDKN1B | 8 | Jan 9, 2026 |
| CDKN2A | 14 | Jan 9, 2026 |
| CDON | 10 | Jan 24, 2024 |
| CEACAM16 | 7 | Jan 24, 2024 |
| CEACAM16-AS1 | 7 | Jan 24, 2024 |
| CEBPA | 15 | Jan 9, 2026 |
| CEL | 13 | Jan 9, 2026 |
| CELF2 | 1 | Jan 9, 2026 |
| CEP290 | 21 | Jan 24, 2024 |
| CEP85L | 4 | Jan 28, 2025 |
| CERKL | 4 | Jan 24, 2024 |
| CERS1 | 1 | Jan 9, 2026 |
| CFAP298 | 6 | Jan 9, 2026 |
| CFAP298-TCP10L | 6 | Jan 9, 2026 |
| CFAP418 | 3 | Jan 24, 2024 |
| CFAP418-AS1 | 1 | Jan 24, 2024 |
| CFAP47 | 1 | Dec 11, 2020 |
| CFAP53 | 2 | Jan 9, 2026 |
| CFAP92 | 3 | Jan 9, 2026 |
| CFD | 1 | Jun 30, 2017 |
| CFP | 1 | Jan 28, 2025 |
| CFTR | 495 | Jan 9, 2026 |
| CFTR-AS1 | 58 | Jan 9, 2026 |
| CFTR-AS2 | 106 | Jan 9, 2026 |
| CHD2 | 9 | Jan 9, 2026 |
| CHD3 | 1 | Jan 4, 2022 |
| CHD6 | 1 | Dec 11, 2020 |
| CHD7 | 35 | Jan 28, 2025 |
| CHD8 | 2 | Jan 9, 2026 |
| CHEK2 | 35 | Jan 9, 2026 |
| CHKA | 2 | Jan 24, 2024 |
| CHM | 2 | Jan 24, 2024 |
| CHRNA4 | 11 | Jan 9, 2026 |
| CHRNA9 | 1 | Dec 11, 2020 |
| CHRNB2 | 5 | Jan 9, 2026 |
| CHRNE | 1 | Jan 28, 2025 |
| CHRNG | 1 | Oct 10, 2018 |
| CHST14 | 1 | Jan 4, 2022 |
| CHUK | 1 | Aug 5, 2019 |
| CHURC1-FNTB | 1 | Jan 28, 2025 |
| CILK1 | 16 | Jan 9, 2026 |
| CLCN4 | 4 | Jan 28, 2025 |
| CLCN5 | 4 | Jan 9, 2026 |
| CLDN14 | 2 | Jan 24, 2024 |
| CLDN14-AS1 | 2 | Jan 24, 2024 |
| CLDN2 | 1 | Jan 28, 2025 |
| CLK1 | 1 | Jan 4, 2022 |
| CLN3 | 6 | Jan 9, 2026 |
| CLN5 | 2 | Jan 9, 2026 |
| CLN6 | 9 | Jan 9, 2026 |
| CLN8 | 3 | Jan 9, 2026 |
| CLRN1 | 2 | Aug 5, 2019 |
| CLRN1-AS1 | 1 | Aug 5, 2019 |
| CLTC | 4 | Jan 9, 2026 |
| CNGA1 | 3 | Jan 24, 2024 |
| CNGB1 | 19 | Jan 24, 2024 |
| CNKSR2 | 3 | Jan 28, 2025 |
| CNTN2 | 1 | Jan 9, 2026 |
| CNTNAP1 | 1 | Jan 6, 2023 |
| CNTNAP2 | 12 | Jan 9, 2026 |
| COA3 | 2 | Jan 24, 2024 |
| COBL | 1 | Jan 24, 2024 |
| COCH | 6 | Jan 24, 2024 |
| COCH-AS1 | 6 | Jan 24, 2024 |
| COG1 | 1 | Jan 28, 2025 |
| COG2 | 1 | Jan 24, 2024 |
| COL10A1 | 8 | Jan 9, 2026 |
| COL11A1 | 33 | Jan 9, 2026 |
| COL11A2 | 44 | Jan 9, 2026 |
| COL12A1 | 2 | Jan 6, 2023 |
| COL1A1 | 162 | Jan 9, 2026 |
| COL1A2 | 106 | Jan 9, 2026 |
| COL1A2-AS1 | 1 | Jan 24, 2024 |
| COL25A1 | 1 | Jan 4, 2022 |
| COL2A1 | 101 | Jan 9, 2026 |
| COL3A1 | 85 | Jan 9, 2026 |
| COL4A1 | 15 | Jan 9, 2026 |
| COL4A2 | 2 | Jan 9, 2026 |
| COL4A3 | 26 | Jan 9, 2026 |
| COL4A4 | 14 | Jan 9, 2026 |
| COL4A5 | 37 | Jan 9, 2026 |
| COL5A1 | 187 | Jan 9, 2026 |
| COL5A2 | 103 | Jan 9, 2026 |
| COL6A1 | 2 | Jan 28, 2025 |
| COL6A2 | 5 | Jan 4, 2022 |
| COL6A5 | 1 | Jan 24, 2024 |
| COL8A1 | 1 | Dec 11, 2020 |
| COL9A1 | 1 | Dec 11, 2020 |
| COL9A2 | 6 | Jan 9, 2026 |
| COL9A3 | 12 | Jan 9, 2026 |
| COMP | 29 | Jan 9, 2026 |
| COQ2 | 5 | Jan 24, 2024 |
| COQ8A | 6 | Jan 24, 2024 |
| COQ9 | 4 | Jan 24, 2024 |
| CORIN | 5 | Aug 5, 2019 |
| COX10 | 3 | Jan 24, 2024 |
| COX15 | 3 | Aug 5, 2019 |
| COX4I2 | 2 | Jan 6, 2023 |
| CPEB1-AS1 | 6 | Jan 9, 2026 |
| CPS1 | 1 | Jan 24, 2024 |
| CPSF3 | 1 | Jan 4, 2022 |
| CPT1A | 19 | Jan 9, 2026 |
| CPT2 | 24 | Jan 9, 2026 |
| CPZ | 1 | Jan 4, 2022 |
| CR1 | 2 | Jan 24, 2024 |
| CR2 | 26 | Jan 9, 2026 |
| CRB1 | 14 | Jan 24, 2024 |
| CREB3L1 | 9 | Jan 9, 2026 |
| CRELD1 | 2 | Jan 9, 2026 |
| CRIPTO | 1 | Oct 10, 2018 |
| CRTAP | 21 | Jan 9, 2026 |
| CRX | 4 | Jan 24, 2024 |
| CRYAB | 3 | Jan 9, 2026 |
| CRYM | 1 | Oct 10, 2018 |
| CSF1R | 1 | Jan 9, 2026 |
| CSF3R | 16 | Jan 9, 2026 |
| CSRP3 | 15 | Jan 9, 2026 |
| CTC1 | 34 | Jan 9, 2026 |
| CTCF | 2 | Jan 28, 2025 |
| CTDP1 | 1 | Jan 24, 2024 |
| CTF1 | 2 | Aug 5, 2019 |
| CTH | 1 | Jan 9, 2026 |
| CTLA4 | 2 | Aug 22, 2024 |
| CTNNA1 | 17 | Jan 9, 2026 |
| CTNS | 2 | Jan 24, 2024 |
| CTRC | 100 | Jan 9, 2026 |
| CTSC | 1 | Jan 9, 2026 |
| CTSD | 3 | Jan 9, 2026 |
| CTSE | 1 | Jan 6, 2023 |
| CTSF | 4 | Jan 9, 2026 |
| CTU2 | 2 | Jan 9, 2026 |
| CUBN | 65 | Jan 9, 2026 |
| CUL4B | 4 | Jan 9, 2026 |
| CUX1 | 2 | Jan 28, 2025 |
| CXCR4 | 7 | Jan 9, 2026 |
| CYB561D2 | 5 | Jan 9, 2026 |
| CYB5R3 | 40 | Jan 9, 2026 |
| CYBB | 2 | Dec 11, 2020 |
| CYCS | 1 | Jan 24, 2024 |
| CYFIP2 | 1 | Jan 24, 2024 |
| CYGB | 1 | Oct 10, 2018 |
| CYLD-AS1 | 1 | Dec 11, 2020 |
| CYP27B1 | 5 | Jan 9, 2026 |
| DARS2 | 3 | Jan 24, 2024 |
| DBNL | 5 | Jan 9, 2026 |
| DBT | 8 | Jan 24, 2024 |
| DCHS1 | 6 | Jan 9, 2026 |
| DCLRE1C | 14 | Jan 9, 2026 |
| DCP2 | 1 | Dec 11, 2020 |
| DCTN1 | 40 | Jan 9, 2026 |
| DDC | 1 | Jan 28, 2025 |
| DDOST | 2 | Jan 24, 2024 |
| DDR2 | 21 | Jan 9, 2026 |
| DDX41 | 14 | Jan 9, 2026 |
| DDX52 | 1 | Dec 11, 2020 |
| DEAF1 | 10 | Jan 9, 2026 |
| DENND4C | 1 | Jan 24, 2024 |
| DEPDC5 | 14 | Jan 9, 2026 |
| DES | 25 | Jan 9, 2026 |
| DGUOK | 3 | Jan 24, 2024 |
| DHCR7 | 34 | Jan 9, 2026 |
| DHDDS | 1 | Jan 9, 2026 |
| DHFR | 14 | Jan 9, 2026 |
| DHRS4L1 | 1 | Dec 11, 2020 |
| DHTKD1 | 34 | Jan 9, 2026 |
| DHX30 | 1 | Jan 28, 2025 |
| DIAPH1 | 15 | Jan 9, 2026 |
| DIAPH3 | 1 | Jan 24, 2024 |
| DICER1 | 59 | Jan 9, 2026 |
| DIPK1A | 4 | Jan 28, 2025 |
| DISP1 | 18 | Jan 24, 2024 |
| DKC1 | 7 | Jan 9, 2026 |
| DLAT | 4 | Jan 24, 2024 |
| DLD | 5 | Jan 24, 2024 |
| DLG4 | 4 | Jan 9, 2026 |
| DLL3 | 36 | Jan 9, 2026 |
| DMD | 224 | Jan 9, 2026 |
| DMP1-AS1 | 13 | Jan 24, 2024 |
| DMXL2 | 17 | Jan 9, 2026 |
| DNAAF1 | 16 | Jan 9, 2026 |
| DNAAF11 | 10 | Jan 9, 2026 |
| DNAAF2 | 12 | Jan 9, 2026 |
| DNAAF3 | 11 | Jan 9, 2026 |
| DNAAF3-AS1 | 9 | Jan 9, 2026 |
| DNAAF4 | 6 | Jan 9, 2026 |
| DNAAF4-CCPG1 | 6 | Jan 9, 2026 |
| DNAAF5 | 14 | Jan 9, 2026 |
| DNAAF6 | 1 | Jan 28, 2025 |
| DNAH1 | 74 | Jan 9, 2026 |
| DNAH11 | 90 | Jan 9, 2026 |
| DNAH14 | 1 | Jan 24, 2024 |
| DNAH5 | 66 | Jan 9, 2026 |
| DNAH5-AS1 | 12 | Jan 9, 2026 |
| DNAH9 | 1 | Jan 28, 2025 |
| DNAI1 | 10 | Jan 9, 2026 |
| DNAI2 | 12 | Jan 9, 2026 |
| DNAJB2 | 8 | Jan 9, 2026 |
| DNAJB6 | 1 | Jan 24, 2024 |
| DNAJC21 | 12 | Jan 9, 2026 |
| DNAJC5 | 1 | Jan 28, 2025 |
| DNAL1 | 3 | Jan 9, 2026 |
| DNASE1 | 1 | Dec 11, 2020 |
| DNM1 | 1 | Jan 28, 2025 |
| DNM1L | 7 | Jan 9, 2026 |
| DNM2 | 29 | Jan 9, 2026 |
| DNMT1 | 47 | Jan 9, 2026 |
| DNMT3A | 1 | Jan 9, 2026 |
| DNMT3B | 16 | Jan 9, 2026 |
| DOCK7 | 7 | Jan 9, 2026 |
| DOK7 | 1 | Jan 24, 2024 |
| DOLK | 11 | Jan 9, 2026 |
| DPM1 | 4 | Jan 9, 2026 |
| DPYD | 12 | Jan 9, 2026 |
| DPYD-AS1 | 2 | Jan 9, 2026 |
| DPYSL5 | 1 | Jan 4, 2022 |
| DRC1 | 9 | Jan 9, 2026 |
| DRC2 | 6 | Jan 9, 2026 |
| DRC4 | 7 | Jan 9, 2026 |
| DRD2 | 1 | Dec 11, 2020 |
| DRP2 | 1 | Dec 11, 2020 |
| DSC2 | 28 | Jan 9, 2026 |
| DSCAS | 3 | Jan 9, 2026 |
| DSG2 | 39 | Jan 9, 2026 |
| DSG2-AS1 | 14 | Jan 9, 2026 |
| DSP | 95 | Jan 9, 2026 |
| DSP-AS1 | 3 | Jan 9, 2026 |
| DSPP | 13 | Jan 24, 2024 |
| DTNA | 15 | Jan 24, 2024 |
| DUSP29 | 4 | Jan 24, 2024 |
| DVL2 | 1 | Jan 9, 2026 |
| DYM | 5 | Jan 9, 2026 |
| DYNC1H1 | 80 | Jan 9, 2026 |
| DYNC2H1 | 159 | Jan 9, 2026 |
| DYNC2I2 | 1 | Jan 24, 2024 |
| DYRK1A | 2 | Jan 28, 2025 |
| DYSF | 1 | Dec 11, 2020 |
| EAPP | 1 | Dec 11, 2020 |
| EBP | 7 | Jan 24, 2024 |
| ECEL1 | 2 | Jan 6, 2023 |
| ECHS1 | 6 | Jan 9, 2026 |
| EDA | 3 | Jan 24, 2024 |
| EDAR | 2 | Jan 24, 2024 |
| EDARADD | 4 | Jan 24, 2024 |
| EEF1A2 | 6 | Jan 9, 2026 |
| EEF2KMT | 1 | Jan 9, 2026 |
| EFCC1 | 1 | Jan 24, 2024 |
| EFEMP2 | 33 | Jan 9, 2026 |
| EFHC1 | 2 | Dec 11, 2020 |
| EFTUD2 | 1 | Jan 24, 2024 |
| EGFR | 11 | Jan 9, 2026 |
| EGLN1 | 16 | Jan 9, 2026 |
| EGR2 | 16 | Jan 9, 2026 |
| EHBP1L1 | 2 | Jan 4, 2022 |
| EHMT1 | 11 | Jan 9, 2026 |
| EIF2AK3 | 11 | Jan 9, 2026 |
| EIF2AK3-AS1 | 4 | Jan 9, 2026 |
| EIF2AK4 | 55 | Jan 9, 2026 |
| EIF3D | 1 | Jan 24, 2024 |
| EIF5A | 1 | Jan 28, 2025 |
| ELAC2 | 1 | Dec 11, 2020 |
| ELANE | 29 | Jan 9, 2026 |
| ELMO1 | 1 | Jan 24, 2024 |
| ELMO2 | 3 | Jan 9, 2026 |
| ELMO3 | 1 | Jan 9, 2026 |
| ELP1 | 40 | Jan 9, 2026 |
| EMD | 8 | Jan 9, 2026 |
| EML6 | 1 | Dec 11, 2020 |
| ENG | 165 | Jan 9, 2026 |
| ENO3 | 9 | Jan 9, 2026 |
| EP300 | 3 | Jan 24, 2024 |
| EPAS1 | 24 | Jan 9, 2026 |
| EPB41 | 49 | Jan 9, 2026 |
| EPB41L1 | 1 | Jan 28, 2025 |
| EPB42 | 57 | Jan 9, 2026 |
| EPCAM | 1 | Jan 9, 2026 |
| EPHB4 | 65 | Jan 9, 2026 |
| EPM2A | 2 | Jan 24, 2024 |
| EPM2A-DT | 2 | Jan 24, 2024 |
| EPOR | 13 | Jan 9, 2026 |
| EPPK1 | 1 | Dec 11, 2020 |
| ERCC4 | 19 | Jan 9, 2026 |
| ERCC6 | 3 | Dec 11, 2020 |
| ERCC6L2 | 27 | Jan 9, 2026 |
| ERCC8 | 1 | Jan 24, 2024 |
| ERMARD | 1 | Dec 11, 2020 |
| ESPN | 10 | Jan 24, 2024 |
| ESRRB | 5 | Jan 24, 2024 |
| ETFA | 9 | Jan 9, 2026 |
| ETFB | 6 | Jan 9, 2026 |
| ETFDH | 8 | Jan 9, 2026 |
| ETHE1 | 1 | Jan 24, 2024 |
| ETV6 | 17 | Jan 9, 2026 |
| EVC | 55 | Jan 9, 2026 |
| EVC2 | 87 | Jan 9, 2026 |
| EVI2A | 1 | Jan 6, 2023 |
| EXD3 | 1 | Aug 5, 2019 |
| EXOSC2 | 1 | Jan 9, 2026 |
| EXT2 | 1 | Dec 11, 2020 |
| EYA4 | 10 | Jan 24, 2024 |
| EYS | 24 | Jan 24, 2024 |
| F11 | 1 | Dec 11, 2020 |
| F8 | 325 | Jan 9, 2026 |
| F9 | 81 | Jan 28, 2025 |
| FAM120C | 1 | Jan 4, 2022 |
| FAM161A | 2 | Aug 5, 2019 |
| FAM20A | 1 | Jan 28, 2025 |
| FANCA | 59 | Jan 9, 2026 |
| FANCB | 7 | Jan 9, 2026 |
| FANCC | 13 | Jan 9, 2026 |
| FANCD2 | 39 | Jan 9, 2026 |
| FANCD2OS | 6 | Jan 9, 2026 |
| FANCE | 8 | Jan 9, 2026 |
| FANCF | 12 | Jan 9, 2026 |
| FANCG | 8 | Jan 9, 2026 |
| FANCI | 28 | Jan 9, 2026 |
| FANCL | 10 | Jan 9, 2026 |
| FANCM | 8 | Jun 30, 2017 |
| FAR1 | 1 | Jan 24, 2024 |
| FARS2 | 9 | Jan 9, 2026 |
| FASN | 1 | Jan 4, 2022 |
| FASTKD2 | 3 | Jan 24, 2024 |
| FAT1 | 1 | Jan 24, 2024 |
| FAT4 | 39 | Jan 9, 2026 |
| FBLN5 | 14 | Jan 9, 2026 |
| FBN1 | 317 | Jan 9, 2026 |
| FBN2 | 186 | Jan 9, 2026 |
| FBN3 | 2 | Jan 4, 2022 |
| FBP1 | 1 | Jan 9, 2026 |
| FBXL3 | 1 | Jan 24, 2024 |
| FBXL4 | 1 | Jan 24, 2024 |
| FBXO11 | 1 | Jan 9, 2026 |
| FBXO39 | 1 | Jan 24, 2024 |
| FBXO41 | 1 | Aug 5, 2019 |
| FCGBP | 1 | Jan 9, 2026 |
| FER1L6 | 1 | Jan 9, 2026 |
| FER1L6-AS2 | 1 | Jan 9, 2026 |
| FGD4 | 17 | Jan 9, 2026 |
| FGF12 | 1 | Jan 9, 2026 |
| FGF8 | 3 | Jan 24, 2024 |
| FGFR1 | 26 | Jan 9, 2026 |
| FGFR2 | 26 | Jan 9, 2026 |
| FGFR3 | 63 | Jan 9, 2026 |
| FH | 16 | Jan 9, 2026 |
| FHL1 | 15 | Jan 9, 2026 |
| FIG4 | 21 | Jan 9, 2026 |
| FKBP10 | 36 | Jan 9, 2026 |
| FKRP | 14 | Jan 24, 2024 |
| FKTN | 20 | Jan 9, 2026 |
| FLAD1 | 2 | Jan 28, 2025 |
| FLCN | 53 | Jan 9, 2026 |
| FLNA | 188 | Jan 9, 2026 |
| FLNB | 115 | Jan 9, 2026 |
| FLNB-AS1 | 5 | Jan 9, 2026 |
| FLNC | 98 | Jan 9, 2026 |
| FLNC-AS1 | 29 | Jan 9, 2026 |
| FLT4 | 25 | Jan 9, 2026 |
| FNBP1L | 1 | Dec 11, 2020 |
| FNTB | 1 | Jan 28, 2025 |
| FOLR1 | 1 | Jan 28, 2025 |
| FOLR1-AS1 | 1 | Jan 28, 2025 |
| FOXC2 | 6 | Jan 9, 2026 |
| FOXC2-AS1 | 3 | Jan 9, 2026 |
| FOXE3 | 13 | Jan 9, 2026 |
| FOXG1 | 2 | Jan 9, 2026 |
| FOXH1 | 5 | Jan 24, 2024 |
| FOXL3 | 1 | Jan 4, 2022 |
| FOXN1 | 2 | Jun 30, 2017 |
| FOXO4 | 1 | Jan 28, 2025 |
| FOXP1 | 1 | Jan 9, 2026 |
| FOXP3 | 4 | Jan 9, 2026 |
| FPGT-TNNI3K | 22 | Jan 9, 2026 |
| FRRS1L | 1 | Jan 28, 2025 |
| FSCN2 | 4 | Jan 24, 2024 |
| FTH1 | 1 | Jan 24, 2024 |
| FTL | 2 | Jan 9, 2026 |
| FXN | 5 | Aug 22, 2024 |
| G6PC1 | 10 | Jan 9, 2026 |
| G6PC3 | 4 | Jan 9, 2026 |
| G6PD | 81 | Jan 9, 2026 |
| GAA | 66 | Jan 9, 2026 |
| GABBR2 | 4 | Jan 9, 2026 |
| GABRA1 | 1 | Jan 9, 2026 |
| GABRA3 | 1 | Dec 11, 2020 |
| GABRB2 | 3 | Jan 9, 2026 |
| GABRB3 | 2 | Jan 24, 2024 |
| GABRD | 7 | Jan 9, 2026 |
| GABRG2 | 2 | Jan 28, 2025 |
| GAL3ST3 | 1 | Dec 11, 2020 |
| GAL3ST4 | 1 | Dec 11, 2020 |
| GALC | 7 | Jan 9, 2026 |
| GALNS | 1 | Jan 24, 2024 |
| GALT | 64 | Jan 9, 2026 |
| GAMT | 6 | Jan 9, 2026 |
| GAN | 16 | Jan 9, 2026 |
| GANC | 2 | Jan 9, 2026 |
| GAREM2 | 10 | Jan 9, 2026 |
| GARS1 | 25 | Jan 9, 2026 |
| GATA1 | 4 | Jan 9, 2026 |
| GATA2 | 21 | Jan 9, 2026 |
| GATA4 | 13 | Jan 9, 2026 |
| GATA6 | 13 | Jan 9, 2026 |
| GATAD1 | 6 | Jan 28, 2025 |
| GATM | 4 | Jan 9, 2026 |
| GBA1 | 20 | Jan 9, 2026 |
| GBE1 | 7 | Jan 9, 2026 |
| GCK | 46 | Jan 9, 2026 |
| GCLC | 44 | Jan 9, 2026 |
| GCLC-AS1 | 18 | Jan 9, 2026 |
| GDAP1 | 9 | Jan 28, 2025 |
| GDF1 | 1 | Jan 9, 2026 |
| GDF2 | 19 | Jan 9, 2026 |
| GDF5 | 9 | Jan 9, 2026 |
| GDF5-AS1 | 3 | Jan 6, 2023 |
| GFAP | 6 | Jan 9, 2026 |
| GFER | 1 | Jan 24, 2024 |
| GFI1 | 10 | Jan 9, 2026 |
| GFM1 | 6 | Jan 24, 2024 |
| GH-LCR | 3 | Jan 9, 2026 |
| GIPC3 | 1 | Aug 5, 2019 |
| GJB1 | 14 | Jan 9, 2026 |
| GJB2 | 66 | Jan 9, 2026 |
| GJB3 | 8 | Jan 24, 2024 |
| GJB6 | 1 | Jan 24, 2024 |
| GJC2 | 7 | Jan 9, 2026 |
| GJD2-DT | 9 | Jan 9, 2026 |
| GLA | 10 | Jan 9, 2026 |
| GLB1 | 2 | Jan 9, 2026 |
| GLDC | 3 | Jan 9, 2026 |
| GLI2 | 24 | Jan 9, 2026 |
| GLI3 | 10 | Jan 28, 2025 |
| GLMN | 15 | Jan 9, 2026 |
| GLRA1 | 2 | Jan 9, 2026 |
| GNAO1 | 1 | Jan 9, 2026 |
| GNAO1-AS1 | 1 | Jan 9, 2026 |
| GNB4 | 7 | Jan 9, 2026 |
| GNE | 1 | Jan 9, 2026 |
| GNPAT | 28 | Jan 9, 2026 |
| GNPTAB | 1 | Jan 24, 2024 |
| GOLGA2 | 1 | Jan 9, 2026 |
| GORAB | 4 | Jan 28, 2025 |
| GORAB-AS1 | 1 | Jan 28, 2025 |
| GOSR2 | 3 | Jan 9, 2026 |
| GP1BA | 3 | Jan 4, 2022 |
| GP6 | 1 | Oct 10, 2018 |
| GPATCH8 | 1 | Jan 24, 2024 |
| GPC3 | 1 | Jan 9, 2026 |
| GPD1L | 4 | Jan 24, 2024 |
| GPHN | 3 | Jan 28, 2025 |
| GPI | 43 | Jan 9, 2026 |
| GPLD1 | 1 | Jan 28, 2025 |
| GPR19 | 1 | Jan 24, 2024 |
| GPSM2 | 6 | Jan 24, 2024 |
| GPT2 | 1 | Jan 24, 2024 |
| GREM2 | 1 | Jan 24, 2024 |
| GRHL1 | 1 | Jan 9, 2026 |
| GRHL2 | 2 | Jan 24, 2024 |
| GRIA3 | 5 | Jan 9, 2026 |
| GRID2 | 1 | Jan 24, 2024 |
| GRIN1 | 2 | Jan 9, 2026 |
| GRIN2A | 8 | Jan 9, 2026 |
| GRIN2B | 15 | Jan 9, 2026 |
| GSDME | 3 | Aug 22, 2024 |
| GSR | 44 | Jan 9, 2026 |
| GSS | 37 | Jan 9, 2026 |
| GTPBP1 | 1 | Jan 24, 2024 |
| GUCA1B | 1 | Aug 5, 2019 |
| GUCD1 | 1 | Jan 28, 2025 |
| GUCY2D | 16 | Jan 24, 2024 |
| GUSB | 1 | Oct 10, 2018 |
| GYG1 | 6 | Jan 9, 2026 |
| GYS1 | 10 | Jan 9, 2026 |
| GYS2 | 7 | Jan 9, 2026 |
| HACE1 | 4 | Jan 9, 2026 |
| HACL1 | 1 | Oct 10, 2018 |
| HADH | 5 | Jan 9, 2026 |
| HADHA | 15 | Jan 9, 2026 |
| HADHB | 6 | Jan 9, 2026 |
| HAFML | 1 | Jan 9, 2026 |
| HARS1 | 15 | Jan 9, 2026 |
| HARS2 | 1 | Oct 10, 2018 |
| HAX1 | 5 | Jan 9, 2026 |
| HBA-LCR | 5 | Jan 9, 2026 |
| HBA1 | 110 | Jan 9, 2026 |
| HBA2 | 136 | Jan 9, 2026 |
| HBB | 272 | Jan 9, 2026 |
| HBG1 | 16 | Jan 9, 2026 |
| HBG2 | 12 | Jan 9, 2026 |
| HCFC1 | 13 | Jan 9, 2026 |
| HCN1 | 7 | Jan 9, 2026 |
| HCN4 | 24 | Jan 9, 2026 |
| HDAC4 | 1 | Dec 11, 2020 |
| HECTD4 | 2 | Jan 9, 2026 |
| HECW2 | 4 | Jan 9, 2026 |
| HELLS | 9 | Jan 9, 2026 |
| HERC1 | 1 | Jan 6, 2023 |
| HERC2 | 1 | Jan 9, 2026 |
| HEXA | 33 | Jan 9, 2026 |
| HEXB | 1 | Jan 28, 2025 |
| HEXIM2 | 1 | Dec 11, 2020 |
| HEXIM2-AS2 | 1 | Dec 11, 2020 |
| HFE | 1 | Jan 9, 2026 |
| HGSNAT | 1 | Jan 24, 2024 |
| HHIPL1 | 2 | Jan 9, 2026 |
| HIF1A | 16 | Jan 9, 2026 |
| HIF1A-AS3 | 15 | Jan 9, 2026 |
| HINT1 | 3 | Jan 28, 2025 |
| HK1 | 71 | Jan 9, 2026 |
| HMGCL | 1 | Jan 28, 2025 |
| HMGCR | 1 | Jan 9, 2026 |
| HMGCS2 | 7 | Jan 9, 2026 |
| HNF1A | 33 | Jan 9, 2026 |
| HNF1B | 9 | Jan 9, 2026 |
| HNF4A | 22 | Jan 9, 2026 |
| HNRNPH2 | 1 | Jan 28, 2025 |
| HNRNPK | 1 | Jan 28, 2025 |
| HNRNPUL2-BSCL2 | 13 | Jan 9, 2026 |
| HOGA1 | 1 | Jan 24, 2024 |
| HOXA11 | 4 | Jan 9, 2026 |
| HOXB13 | 2 | Jan 9, 2026 |
| HOXD10 | 12 | Jan 9, 2026 |
| HPS1 | 2 | Jan 28, 2025 |
| HRAS | 11 | Jan 9, 2026 |
| HRC | 1 | Jan 6, 2023 |
| HSALR1 | 179 | Jan 9, 2026 |
| HSD17B1 | 1 | Jan 24, 2024 |
| HSD17B10 | 1 | Jan 28, 2025 |
| HSD17B4 | 10 | Jan 9, 2026 |
| HSPB1 | 10 | Jan 9, 2026 |
| HSPB3 | 4 | Jan 9, 2026 |
| HSPB8 | 7 | Jan 24, 2024 |
| HSPD1 | 2 | Jan 24, 2024 |
| HSPG2 | 266 | Jan 9, 2026 |
| HTR2B | 1 | Oct 10, 2018 |
| HTT | 1 | Jan 9, 2026 |
| HUWE1 | 3 | Jan 28, 2025 |
| IARS2 | 1 | Jan 28, 2025 |
| ICAM5 | 1 | Dec 11, 2020 |
| ICOS | 6 | Jan 9, 2026 |
| IDH3B | 1 | Oct 10, 2018 |
| IDUA | 2 | Jan 24, 2024 |
| IFIH1 | 1 | Dec 11, 2020 |
| IFITM5 | 4 | Jan 24, 2024 |
| IFNAR2 | 1 | Dec 11, 2020 |
| IFNAR2-IL10RB | 1 | Dec 11, 2020 |
| IFNG | 1 | Jan 4, 2022 |
| IFT122 | 1 | Jan 9, 2026 |
| IFT80 | 22 | Jan 9, 2026 |
| IGH | 5 | Jan 9, 2026 |
| IGHM | 5 | Jan 9, 2026 |
| IGHMBP2 | 55 | Jan 9, 2026 |
| IGLL1 | 18 | Jan 9, 2026 |
| IKBKG | 8 | Jan 6, 2023 |
| IKZF1 | 11 | Jan 9, 2026 |
| IL21R | 10 | Jan 9, 2026 |
| IL21R-AS1 | 3 | Jan 28, 2025 |
| IL7R | 1 | Jan 4, 2022 |
| ILDR1 | 1 | Jan 24, 2024 |
| ILF3 | 1 | Dec 11, 2020 |
| ILK | 3 | Aug 5, 2019 |
| IMPDH1 | 4 | Aug 5, 2019 |
| IMPG2 | 3 | Dec 11, 2020 |
| INF2 | 65 | Jan 9, 2026 |
| INO80 | 8 | Jan 24, 2024 |
| INO80-AS1 | 1 | Dec 11, 2020 |
| INPPL1 | 11 | Jan 9, 2026 |
| INS | 7 | Jan 9, 2026 |
| INS-IGF2 | 7 | Jan 9, 2026 |
| INSL6 | 24 | Jan 9, 2026 |
| INSR | 36 | Jan 4, 2022 |
| INSRR | 1 | Jan 6, 2023 |
| IPP | 1 | Aug 5, 2019 |
| IQSEC2 | 6 | Jan 9, 2026 |
| IRF2BP2 | 6 | Jan 24, 2024 |
| ISCU | 1 | Oct 10, 2018 |
| ITGB2 | 1 | Jan 24, 2024 |
| ITPA | 1 | Jan 9, 2026 |
| ITPR1 | 1 | Jan 24, 2024 |
| IVD | 3 | Jan 9, 2026 |
| JAG1 | 1 | Aug 5, 2019 |
| JAK2 | 24 | Jan 9, 2026 |
| JAK3 | 1 | Jan 24, 2024 |
| JPH2 | 21 | Jan 9, 2026 |
| JUP | 41 | Jan 9, 2026 |
| KALRN | 1 | Jan 9, 2026 |
| KANSL1 | 7 | Jan 9, 2026 |
| KARS1 | 19 | Jan 9, 2026 |
| KAT2B | 1 | Dec 11, 2020 |
| KAT6A | 1 | Jan 28, 2025 |
| KAT6B | 10 | Jan 28, 2025 |
| KAZALD1 | 1 | Jan 4, 2022 |
| KCNA1 | 3 | Jan 9, 2026 |
| KCNA2 | 2 | Jan 9, 2026 |
| KCNA5 | 12 | Jan 9, 2026 |
| KCNB1 | 4 | Jan 9, 2026 |
| KCNC1 | 4 | Jan 28, 2025 |
| KCND2 | 2 | Jan 28, 2025 |
| KCNE1 | 11 | Jan 9, 2026 |
| KCNE2 | 5 | Jan 9, 2026 |
| KCNE3 | 3 | Jan 24, 2024 |
| KCNH1 | 4 | Jan 9, 2026 |
| KCNH2 | 63 | Jan 9, 2026 |
| KCNJ10 | 3 | Jan 9, 2026 |
| KCNJ11 | 14 | Jan 9, 2026 |
| KCNJ2 | 12 | Jan 9, 2026 |
| KCNJ8-AS1 | 4 | Jan 24, 2024 |
| KCNK3 | 6 | Jan 9, 2026 |
| KCNK9 | 1 | Jan 24, 2024 |
| KCNMA1 | 13 | Jan 9, 2026 |
| KCNMA1-AS1 | 4 | Jan 9, 2026 |
| KCNQ1 | 53 | Jan 9, 2026 |
| KCNQ1-AS1 | 7 | Jan 9, 2026 |
| KCNQ1OT1 | 4 | Jan 9, 2026 |
| KCNQ2 | 17 | Jan 9, 2026 |
| KCNQ3 | 6 | Jan 9, 2026 |
| KCNQ4 | 3 | Jan 24, 2024 |
| KCNT1 | 20 | Jan 9, 2026 |
| KCP | 2 | Dec 11, 2020 |
| KCTD7 | 1 | Jan 28, 2025 |
| KDM4B | 4 | Jan 24, 2024 |
| KDM5B | 2 | Jan 24, 2024 |
| KDM5C | 4 | Jan 9, 2026 |
| KDM6A | 5 | Jan 9, 2026 |
| KDM6B | 1 | Jan 9, 2026 |
| KIAA0753 | 2 | Jun 30, 2017 |
| KIAA1217 | 2 | Jan 28, 2025 |
| KIDINS220 | 2 | Jan 9, 2026 |
| KIF1A | 84 | Jan 9, 2026 |
| KIF1B | 48 | Jan 9, 2026 |
| KIF5A | 33 | Jan 9, 2026 |
| KIF7 | 1 | Jan 24, 2024 |
| KIT | 15 | Jan 9, 2026 |
| KIZ | 3 | Jan 24, 2024 |
| KLF11 | 1 | Jan 24, 2024 |
| KLHL11 | 1 | Jan 24, 2024 |
| KLHL17 | 1 | Jan 24, 2024 |
| KLHL3 | 1 | Oct 10, 2018 |
| KLHL7 | 1 | Jan 24, 2024 |
| KLK14 | 1 | Jan 6, 2023 |
| KLLN | 6 | Jan 9, 2026 |
| KLRG1 | 1 | Jan 24, 2024 |
| KMT2B | 2 | Jan 28, 2025 |
| KMT2D | 74 | Jan 9, 2026 |
| KMT2E | 3 | Jan 9, 2026 |
| KMT5B | 1 | Jan 24, 2024 |
| KPNB1-DT | 1 | Jan 4, 2022 |
| KRAS | 12 | Jan 9, 2026 |
| KRIT1 | 23 | Jan 9, 2026 |
| L1CAM | 2 | Jan 9, 2026 |
| L3MBTL1 | 1 | Jan 6, 2023 |
| LALTOP | 1 | Jan 9, 2026 |
| LAMA2 | 1 | Jan 24, 2024 |
| LAMA4 | 42 | Jan 24, 2024 |
| LAMA4-AS1 | 1 | Jan 24, 2024 |
| LAMB2 | 1 | Jan 28, 2025 |
| LAMP2 | 9 | Jan 9, 2026 |
| LARGE1 | 1 | Jan 4, 2022 |
| LARS2 | 13 | Jan 24, 2024 |
| LARS2-AS1 | 2 | Jan 6, 2023 |
| LAS1L | 4 | Jan 9, 2026 |
| LBR | 23 | Jan 9, 2026 |
| LCA5 | 4 | Jan 24, 2024 |
| LDB3 | 48 | Jan 9, 2026 |
| LDHA | 1 | Jan 9, 2026 |
| LDLR | 85 | Jan 9, 2026 |
| LDLR-AS1 | 4 | Jan 9, 2026 |
| LDLRAD2 | 20 | Jan 9, 2026 |
| LDLRAP1 | 15 | Jan 9, 2026 |
| LGI1 | 2 | Jan 9, 2026 |
| LIFR | 39 | Jan 9, 2026 |
| LIFR-AS1 | 1 | Aug 5, 2019 |
| LIG4 | 3 | Jan 28, 2025 |
| LINC00630 | 9 | Jan 6, 2023 |
| LINC01389 | 13 | Jan 9, 2026 |
| LIPT2 | 1 | Jan 24, 2024 |
| LITAF | 12 | Jan 9, 2026 |
| LIX1L-AS1 | 1 | Jan 28, 2025 |
| LMBRD1 | 3 | Jan 9, 2026 |
| LMNA | 49 | Jan 9, 2026 |
| LNPK | 1 | Jan 9, 2026 |
| LOC100130587 | 3 | Jan 9, 2026 |
| LOC100507346 | 7 | Jan 9, 2026 |
| LOC101448202 | 37 | Jan 9, 2026 |
| LOC101927055 | 15 | Jan 9, 2026 |
| LOC101927157 | 3 | Jan 24, 2024 |
| LOC101928008 | 18 | Jan 9, 2026 |
| LOC101928965 | 2 | Jan 9, 2026 |
| LOC101929305 | 2 | Jan 9, 2026 |
| LOC102723566 | 51 | Jan 9, 2026 |
| LOC102724058 | 9 | Jan 9, 2026 |
| LOC105369149 | 5 | Jan 28, 2025 |
| LOC105370890 | 1 | Jan 28, 2025 |
| LOC105371566 | 33 | Jan 24, 2024 |
| LOC105372791 | 5 | Jan 9, 2026 |
| LOC105378311 | 2 | Dec 11, 2020 |
| LOC106099062 | 189 | Jan 9, 2026 |
| LOC106099064 | 9 | Jan 9, 2026 |
| LOC106099065 | 9 | Jan 9, 2026 |
| LOC106560211 | 3 | Jan 9, 2026 |
| LOC106627981 | 18 | Jan 9, 2026 |
| LOC106804612 | 135 | Jan 9, 2026 |
| LOC106804613 | 107 | Jan 9, 2026 |
| LOC107080555 | 1 | Jan 9, 2026 |
| LOC107126281 | 4 | Jan 9, 2026 |
| LOC107133510 | 274 | Jan 9, 2026 |
| LOC107181288 | 2 | Apr 30, 2022 |
| LOC107303338 | 30 | Jan 9, 2026 |
| LOC107303340 | 11 | Jan 9, 2026 |
| LOC107303343 | 3 | Dec 11, 2020 |
| LOC107457585 | 1 | Jan 24, 2024 |
| LOC107652445 | 1 | Jan 28, 2025 |
| LOC107982234 | 5 | Jan 9, 2026 |
| LOC107988032 | 9 | Jan 9, 2026 |
| LOC108021846 | 6 | Jan 24, 2024 |
| LOC108281126 | 1 | Aug 5, 2019 |
| LOC108663984 | 1 | Jan 28, 2025 |
| LOC108663985 | 2 | Jan 9, 2026 |
| LOC108903148 | 1 | Jan 24, 2024 |
| LOC109611589 | 7 | Jan 9, 2026 |
| LOC110006319 | 94 | Jan 9, 2026 |
| LOC110011216 | 5 | Jan 24, 2024 |
| LOC110121269 | 15 | Jan 9, 2026 |
| LOC110121427 | 1 | Jan 24, 2024 |
| LOC110121471 | 2 | Jan 9, 2026 |
| LOC110121486 | 3 | Jan 9, 2026 |
| LOC110806263 | 1 | Jan 24, 2024 |
| LOC110806306 | 4 | Jan 9, 2026 |
| LOC111188154 | 1 | Jan 9, 2026 |
| LOC111674463 | 8 | Jan 9, 2026 |
| LOC111674472 | 45 | Jan 9, 2026 |
| LOC111674475 | 13 | Jan 9, 2026 |
| LOC111674477 | 23 | Jan 9, 2026 |
| LOC111718493 | 1 | Jan 24, 2024 |
| LOC111811965 | 3 | Jan 24, 2024 |
| LOC112486223 | 5 | Jan 9, 2026 |
| LOC112529895 | 1 | Jan 24, 2024 |
| LOC112552175 | 1 | Oct 10, 2018 |
| LOC112577486 | 7 | Jan 9, 2026 |
| LOC112694756 | 21 | Jan 9, 2026 |
| LOC112840921 | 1 | Jan 24, 2024 |
| LOC112872299 | 1 | Jan 9, 2026 |
| LOC112997540 | 2 | Jan 24, 2024 |
| LOC113633877 | 2 | Jan 9, 2026 |
| LOC113664106 | 2 | Jan 6, 2023 |
| LOC113788269 | 2 | Jan 9, 2026 |
| LOC113939944 | 6 | Jan 9, 2026 |
| LOC114803470 | 1 | Jan 28, 2025 |
| LOC114827850 | 3 | Jan 6, 2023 |
| LOC114827851 | 13 | Jan 9, 2026 |
| LOC121847958 | 1 | Jan 9, 2026 |
| LOC121853040 | 1 | Oct 10, 2018 |
| LOC122152296 | 2 | Jan 24, 2024 |
| LOC123956210 | 2 | Jan 4, 2022 |
| LOC124153154 | 9 | Jan 9, 2026 |
| LOC125177393 | 3 | Jan 24, 2024 |
| LOC125177414 | 1 | Oct 10, 2018 |
| LOC125312417 | 1 | Jan 28, 2025 |
| LOC125467768 | 1 | Jan 28, 2025 |
| LOC126805598 | 2 | Jan 9, 2026 |
| LOC126805614 | 1 | Dec 11, 2020 |
| LOC126805655 | 7 | Jan 24, 2024 |
| LOC126805688 | 1 | Jan 28, 2025 |
| LOC126805765 | 1 | Jan 9, 2026 |
| LOC126805793 | 2 | Jan 6, 2023 |
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| LOC126806424 | 8 | Jan 9, 2026 |
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| LOC126806462 | 1 | Jan 9, 2026 |
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| LOC126806961 | 9 | Jan 9, 2026 |
| LOC126806962 | 1 | Jan 9, 2026 |
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| LOC126807137 | 7 | Jan 24, 2024 |
| LOC126807318 | 1 | Jan 24, 2024 |
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| LOC126807509 | 1 | Oct 10, 2018 |
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| LOC126860369 | 11 | Jan 9, 2026 |
| LOC126860392 | 1 | Oct 10, 2018 |
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| LOC126860700 | 1 | Dec 11, 2020 |
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| LOC126861897 | 5 | Jan 9, 2026 |
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| LOC126862578 | 1 | Jan 9, 2026 |
| LOC126862586 | 6 | Jan 9, 2026 |
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| LOC126863207 | 1 | Jan 24, 2024 |
| LOC126863263 | 1 | Aug 5, 2019 |
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| LOC129390143 | 1 | Oct 10, 2018 |
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| LOC129935186 | 1 | Jan 9, 2026 |
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| LOC130062568 | 1 | Jan 28, 2025 |
| LOC130062899 | 3 | Jan 9, 2026 |
| LOC130064183 | 2 | Jan 28, 2025 |
| LOC130064281 | 1 | Oct 10, 2018 |
| LOC130064417 | 7 | Jan 9, 2026 |
| LOC130064419 | 1 | Jan 6, 2023 |
| LOC130065433 | 2 | Jan 24, 2024 |
| LOC130065678 | 1 | Aug 5, 2019 |
| LOC130065680 | 2 | Jan 4, 2022 |
| LOC130066166 | 2 | Jan 9, 2026 |
| LOC130066817 | 1 | Oct 10, 2018 |
| LOC130067016 | 1 | Jan 9, 2026 |
| LOC130067574 | 6 | Jan 6, 2023 |
| LOC130067609 | 1 | Jan 9, 2026 |
| LOC130067862 | 4 | Jan 24, 2024 |
| LOC130067864 | 1 | Jan 4, 2022 |
| LOC130068098 | 1 | Oct 10, 2018 |
| LOC130068496 | 1 | Jan 9, 2026 |
| LOC130068621 | 1 | Jan 6, 2023 |
| LOC130068842 | 1 | Jan 24, 2024 |
| LOC132090059 | 1 | Jan 24, 2024 |
| LONP1 | 2 | Jan 28, 2025 |
| LOX | 20 | Jan 9, 2026 |
| LOXHD1 | 13 | Jan 24, 2024 |
| LOXL4 | 1 | Jan 4, 2022 |
| LPIN1 | 15 | Jan 9, 2026 |
| LPIN2 | 87 | Jan 9, 2026 |
| LRAT | 1 | Jan 24, 2024 |
| LRBA | 45 | Jan 9, 2026 |
| LRIG1 | 1 | Jan 24, 2024 |
| LRMDA | 1 | Jan 24, 2024 |
| LRP1B | 1 | Dec 11, 2020 |
| LRP5 | 30 | Jan 9, 2026 |
| LRPPRC | 8 | Jan 24, 2024 |
| LRRC2 | 1 | Oct 10, 2018 |
| LRRC37A2 | 3 | Jan 9, 2026 |
| LRRC51 | 2 | Aug 5, 2019 |
| LRRC53 | 1 | Jan 9, 2026 |
| LRRC56 | 11 | Jan 9, 2026 |
| LRRC8A | 13 | Jan 24, 2024 |
| LRRN4 | 1 | Dec 11, 2020 |
| LRSAM1 | 21 | Jan 9, 2026 |
| LRTOMT | 3 | Jan 24, 2024 |
| LTBP1 | 1 | Jan 28, 2025 |
| LYST | 2 | Jan 28, 2025 |
| LZTR1 | 48 | Jan 9, 2026 |
| MADD | 2 | Jan 6, 2023 |
| MAGEL2 | 1 | Aug 5, 2019 |
| MAK | 2 | Jan 24, 2024 |
| MALT1 | 3 | Jan 24, 2024 |
| MAN2B1 | 1 | Jun 30, 2017 |
| MAN2C1 | 3 | Jan 9, 2026 |
| MAP1B | 1 | Jan 24, 2024 |
| MAP2K1 | 15 | Jan 9, 2026 |
| MAP2K2 | 27 | Jan 9, 2026 |
| MAP3K14 | 9 | Jan 24, 2024 |
| MAP3K14-AS1 | 3 | Jan 24, 2024 |
| MAP4K5 | 1 | Jan 28, 2025 |
| MARCHF11 | 1 | Jan 28, 2025 |
| MARS1 | 26 | Jan 9, 2026 |
| MASP1 | 8 | Jan 9, 2026 |
| MAST3 | 1 | Jan 28, 2025 |
| MAT1A | 5 | Jan 28, 2025 |
| MATN3 | 1 | Jan 24, 2024 |
| MAX | 3 | Jan 9, 2026 |
| MAX-AS1 | 1 | Jan 9, 2026 |
| MBD4 | 13 | Jan 9, 2026 |
| MBD5 | 7 | Jan 9, 2026 |
| MC1R | 26 | Jan 9, 2026 |
| MCCC1 | 1 | Jan 28, 2025 |
| MCCC2 | 1 | Jan 24, 2024 |
| MCEE | 4 | Jan 9, 2026 |
| MCIDAS | 5 | Jan 9, 2026 |
| MDH2 | 8 | Jan 9, 2026 |
| MEA1 | 2 | Jan 9, 2026 |
| MECP2 | 43 | Jan 9, 2026 |
| MED13L | 4 | Jan 24, 2024 |
| MED17 | 3 | Jan 9, 2026 |
| MED23 | 1 | Jan 9, 2026 |
| MED25 | 29 | Jan 9, 2026 |
| MEF2C | 4 | Jan 9, 2026 |
| MEFV | 137 | Jan 9, 2026 |
| MEN1 | 80 | Jan 9, 2026 |
| MERTK | 13 | Jan 24, 2024 |
| MET | 25 | Jan 9, 2026 |
| MFAP5 | 9 | Jan 9, 2026 |
| MFF-DT | 25 | Jan 9, 2026 |
| MFN2 | 37 | Jan 9, 2026 |
| MFSD8 | 2 | Jan 9, 2026 |
| MGAM | 1 | Jan 9, 2026 |
| MHRT | 13 | Jan 9, 2026 |
| MICAL1 | 1 | Jan 9, 2026 |
| MID1 | 1 | Jan 24, 2024 |
| MILR1 | 3 | Jan 24, 2024 |
| MIR4733HG | 4 | Jan 24, 2024 |
| MIR6511B1 | 2 | Dec 11, 2020 |
| MIR6766 | 1 | Jan 24, 2024 |
| MIR6795 | 1 | Dec 11, 2020 |
| MIR6886 | 2 | Jan 9, 2026 |
| MITF | 5 | Jan 9, 2026 |
| MKRN2 | 1 | Jan 9, 2026 |
| MLDHR | 2 | Jan 9, 2026 |
| MLH1 | 72 | Jan 9, 2026 |
| MLH3 | 32 | Jan 9, 2026 |
| MLYCD | 10 | Jan 9, 2026 |
| MMAA | 4 | Jan 9, 2026 |
| MMAB | 5 | Jan 9, 2026 |
| MMACHC | 8 | Jan 9, 2026 |
| MMADHC | 7 | Jan 9, 2026 |
| MME | 1 | Jan 9, 2026 |
| MMP21 | 1 | Jan 24, 2024 |
| MMUT | 14 | Jan 9, 2026 |
| MOCS2 | 3 | Jan 9, 2026 |
| MOGS | 14 | Jan 9, 2026 |
| MORC2 | 19 | Jan 9, 2026 |
| MPDU1 | 4 | Jan 9, 2026 |
| MPDU1-AS1 | 1 | Jan 9, 2026 |
| MPDZ | 2 | Jan 9, 2026 |
| MPL | 7 | Jan 9, 2026 |
| MPV17 | 1 | Oct 10, 2018 |
| MPZ | 14 | Jan 9, 2026 |
| MRE11 | 21 | Jan 24, 2024 |
| MRGPRF | 1 | Dec 11, 2020 |
| MRPL36 | 1 | Jan 24, 2024 |
| MRPS22 | 3 | Jan 24, 2024 |
| MS4A1 | 3 | Jan 9, 2026 |
| MSH2 | 104 | Jan 9, 2026 |
| MSH3 | 41 | Jan 9, 2026 |
| MSH6 | 120 | Jan 9, 2026 |
| MT-ATP6 | 5 | Oct 10, 2018 |
| MT-ATP8 | 2 | Oct 10, 2018 |
| MT-CO1 | 2 | Oct 10, 2018 |
| MT-CO2 | 4 | Oct 10, 2018 |
| MT-CO3 | 5 | Oct 10, 2018 |
| MT-CYB | 2 | Oct 10, 2018 |
| MT-ND1 | 4 | Oct 10, 2018 |
| MT-ND2 | 3 | Oct 10, 2018 |
| MT-ND3 | 3 | Oct 10, 2018 |
| MT-ND4 | 4 | Oct 10, 2018 |
| MT-ND4L | 2 | Oct 10, 2018 |
| MT-ND5 | 4 | Oct 10, 2018 |
| MT-ND6 | 2 | Oct 10, 2018 |
| MT-RNR1 | 1 | Oct 10, 2018 |
| MT-TA | 1 | Oct 10, 2018 |
| MT-TC | 2 | Oct 10, 2018 |
| MT-TD | 1 | Oct 10, 2018 |
| MT-TE | 1 | Oct 10, 2018 |
| MT-TG | 1 | Oct 10, 2018 |
| MT-TH | 2 | Oct 10, 2018 |
| MT-TI | 3 | Oct 10, 2018 |
| MT-TK | 2 | Oct 10, 2018 |
| MT-TL1 | 2 | Oct 10, 2018 |
| MT-TM | 1 | Oct 10, 2018 |
| MT-TN | 1 | Oct 10, 2018 |
| MT-TQ | 1 | Oct 10, 2018 |
| MT-TR | 1 | Oct 10, 2018 |
| MT-TS1 | 1 | Oct 10, 2018 |
| MT-TS2 | 2 | Oct 10, 2018 |
| MT-TV | 1 | Oct 10, 2018 |
| MT-TW | 1 | Oct 10, 2018 |
| MT-TY | 1 | Oct 10, 2018 |
| MTHFR | 14 | Jan 9, 2026 |
| MTHFS | 1 | Jan 6, 2023 |
| MTM1 | 2 | Jan 24, 2024 |
| MTMR2 | 17 | Jan 9, 2026 |
| MTOR | 16 | Jan 9, 2026 |
| MTR | 15 | Jan 9, 2026 |
| MTRR | 16 | Jan 9, 2026 |
| MUS81 | 1 | Jan 24, 2024 |
| MUTYH | 48 | Jan 9, 2026 |
| MVK | 53 | Jan 9, 2026 |
| MVP-DT | 2 | Jan 9, 2026 |
| MYBPC1 | 4 | Jan 9, 2026 |
| MYBPC3 | 99 | Jan 9, 2026 |
| MYBPHL | 1 | Dec 11, 2020 |
| MYCL | 1 | Aug 5, 2019 |
| MYH10 | 4 | Aug 5, 2019 |
| MYH11 | 164 | Jan 9, 2026 |
| MYH14 | 40 | Jan 24, 2024 |
| MYH3 | 4 | Jan 9, 2026 |
| MYH6 | 107 | Jan 9, 2026 |
| MYH7 | 86 | Jan 9, 2026 |
| MYH7B | 2 | Dec 11, 2020 |
| MYH8 | 3 | Jan 24, 2024 |
| MYH9 | 63 | Jan 9, 2026 |
| MYHAS | 3 | Jan 24, 2024 |
| MYL2 | 11 | Jan 9, 2026 |
| MYL3 | 5 | Jan 28, 2025 |
| MYLK | 139 | Jan 9, 2026 |
| MYLK-AS1 | 12 | Jan 9, 2026 |
| MYLK2 | 13 | Jan 24, 2024 |
| MYO15A | 51 | Jan 9, 2026 |
| MYO1A | 4 | Jan 24, 2024 |
| MYO1H | 2 | Jan 24, 2024 |
| MYO3A | 18 | Jan 9, 2026 |
| MYO6 | 12 | Jan 24, 2024 |
| MYO7A | 29 | Jan 24, 2024 |
| MYO9A | 2 | Jan 9, 2026 |
| MYOT | 8 | Jan 24, 2024 |
| MYOZ2 | 3 | Jan 24, 2024 |
| MYPN | 26 | Jan 24, 2024 |
| NAA10 | 1 | Dec 11, 2020 |
| NAA15 | 1 | Jan 24, 2024 |
| NADSYN1 | 1 | Dec 11, 2020 |
| NAGLU | 1 | Jan 9, 2026 |
| NAGS | 1 | Jan 9, 2026 |
| NALCN | 3 | Jan 28, 2025 |
| NAPRT | 2 | Jan 4, 2022 |
| NARS1 | 1 | Jan 28, 2025 |
| NBN | 43 | Jan 9, 2026 |
| NCAPH2 | 2 | Jan 24, 2024 |
| NDE1 | 78 | Jan 9, 2026 |
| NDRG1 | 17 | Jan 9, 2026 |
| NDUFA1 | 1 | Jan 6, 2023 |
| NDUFA11 | 1 | Oct 10, 2018 |
| NDUFAF1 | 2 | Jan 24, 2024 |
| NDUFAF2 | 3 | Jan 24, 2024 |
| NDUFAF4 | 2 | Jan 24, 2024 |
| NDUFAF5 | 4 | Jan 24, 2024 |
| NDUFS1 | 4 | Jan 24, 2024 |
| NDUFS2 | 3 | Jan 24, 2024 |
| NDUFS3 | 3 | Jan 24, 2024 |
| NDUFS4 | 1 | Oct 10, 2018 |
| NDUFS6 | 1 | Jan 24, 2024 |
| NDUFS7 | 1 | Jan 4, 2022 |
| NDUFV1 | 1 | Jan 28, 2025 |
| NDUFV2 | 4 | Jan 24, 2024 |
| NDUFV2-AS1 | 1 | Jan 24, 2024 |
| NEB | 2 | Jan 24, 2024 |
| NEDD4L | 9 | Jan 28, 2025 |
| NEFH | 1 | Jan 9, 2026 |
| NEFL | 8 | Jan 9, 2026 |
| NEIL1 | 1 | Jan 9, 2026 |
| NEK1 | 46 | Jan 9, 2026 |
| NEU1 | 1 | Jan 28, 2025 |
| NEUROD1 | 4 | Jan 9, 2026 |
| NEUROG3 | 3 | Jan 9, 2026 |
| NEXMIF | 6 | Jan 9, 2026 |
| NEXN | 17 | Jan 9, 2026 |
| NF1 | 308 | Jan 9, 2026 |
| NF2 | 6 | Jan 9, 2026 |
| NFASC | 1 | Jan 9, 2026 |
| NFATC3 | 2 | Jan 9, 2026 |
| NFIA | 1 | Jan 24, 2024 |
| NFKB1 | 11 | Jan 9, 2026 |
| NFKB2 | 16 | Jan 9, 2026 |
| NFKBIA | 7 | Jan 9, 2026 |
| NFKBIZ | 1 | Dec 11, 2020 |
| NGF | 8 | Jan 9, 2026 |
| NGF-AS1 | 8 | Jan 9, 2026 |
| NHLRC1 | 1 | Jan 9, 2026 |
| NHP2 | 7 | Jan 9, 2026 |
| NHS | 2 | Jan 24, 2024 |
| NHSL2 | 1 | Dec 11, 2020 |
| NIPBL | 1 | Jan 4, 2022 |
| NKIRAS1 | 5 | Jan 9, 2026 |
| NKX2-5 | 13 | Jan 9, 2026 |
| NKX6-2 | 1 | Jan 24, 2024 |
| NLGN4X | 2 | Jan 24, 2024 |
| NLRP12 | 82 | Jan 9, 2026 |
| NLRP3 | 70 | Jan 9, 2026 |
| NME8 | 8 | Jan 9, 2026 |
| NMNAT1 | 2 | Aug 5, 2019 |
| NOD2 | 107 | Jan 9, 2026 |
| NODAL | 3 | Jan 9, 2026 |
| NOP10 | 2 | Jan 9, 2026 |
| NOTCH1 | 162 | Jan 9, 2026 |
| NOTCH3 | 215 | Jan 9, 2026 |
| NOTUM | 1 | Dec 11, 2020 |
| NPAT | 2 | Jan 28, 2025 |
| NPC1 | 4 | Jan 24, 2024 |
| NPEPPS | 2 | Jan 4, 2022 |
| NPHP3-ACAD11 | 2 | Jan 9, 2026 |
| NPR2 | 2 | Jan 28, 2025 |
| NPRL2 | 1 | Jan 28, 2025 |
| NPRL3 | 5 | Jan 9, 2026 |
| NR2E3 | 8 | Jan 24, 2024 |
| NRAP | 1 | Dec 11, 2020 |
| NRAS | 4 | Jan 9, 2026 |
| NRL | 12 | Jan 24, 2024 |
| NRXN1 | 14 | Jan 9, 2026 |
| NRXN2 | 1 | Jan 9, 2026 |
| NSD1 | 10 | Jan 9, 2026 |
| NSUN6 | 15 | Jan 24, 2024 |
| NT5C3A | 26 | Jan 9, 2026 |
| NT5DC1 | 8 | Jan 9, 2026 |
| NTHL1 | 6 | Jan 9, 2026 |
| NTRK1 | 33 | Jan 9, 2026 |
| NTRK2 | 3 | Jan 9, 2026 |
| NUP210 | 1 | Jan 24, 2024 |
| OBSCN | 21 | Jan 24, 2024 |
| OCA2 | 1 | Jan 4, 2022 |
| OCRL | 1 | Dec 11, 2020 |
| ODAD1 | 18 | Jan 9, 2026 |
| ODAD2 | 15 | Jan 9, 2026 |
| ODAD3 | 13 | Jan 9, 2026 |
| OGDHL | 1 | Jan 24, 2024 |
| OPA1 | 5 | Jan 24, 2024 |
| OPA1-AS1 | 1 | Jan 24, 2024 |
| OPHN1 | 8 | Jan 9, 2026 |
| OPTN | 1 | Jan 24, 2024 |
| OR10Z1 | 2 | Jan 9, 2026 |
| OR6A2 | 2 | Jan 4, 2022 |
| ORC1 | 1 | Jan 24, 2024 |
| ORC6 | 2 | Jan 28, 2025 |
| OTC | 13 | Oct 24, 2024 |
| OTOA | 5 | Jan 24, 2024 |
| OTOF | 35 | Jan 24, 2024 |
| OTOP2 | 1 | Jan 4, 2022 |
| OTUD6B | 2 | Jan 28, 2025 |
| OXCT1 | 8 | Jan 9, 2026 |
| OXTR | 5 | Jan 24, 2024 |
| P3H1 | 46 | Jan 9, 2026 |
| P4HB | 4 | Jan 9, 2026 |
| PABPC1L | 1 | Dec 11, 2020 |
| PACS1 | 2 | Jan 28, 2025 |
| PADI2 | 1 | Jan 9, 2026 |
| PAFAH1B1 | 1 | Jan 28, 2025 |
| PAGE2B | 1 | Jan 9, 2026 |
| PAH | 1 | Jan 9, 2026 |
| PALB2 | 69 | Jan 9, 2026 |
| PAMR1 | 1 | Jan 24, 2024 |
| PAPOLG | 1 | Jan 24, 2024 |
| PARD3B | 3 | Dec 11, 2020 |
| PARN | 5 | Jan 9, 2026 |
| PARP4 | 2 | Jan 4, 2022 |
| PARP9 | 3 | Dec 11, 2020 |
| PATJ | 2 | Jan 4, 2022 |
| PAX1 | 1 | Jan 28, 2025 |
| PAX2 | 1 | Jan 9, 2026 |
| PAX4 | 5 | Jan 24, 2024 |
| PC | 7 | Jan 24, 2024 |
| PCARE | 15 | Jan 24, 2024 |
| PCCA | 9 | Jan 9, 2026 |
| PCCB | 8 | Jan 28, 2025 |
| PCDH15 | 37 | Jan 24, 2024 |
| PCDH19 | 4 | Jan 9, 2026 |
| PCK2 | 10 | Jan 24, 2024 |
| PCNT | 110 | Jan 9, 2026 |
| PCSK9 | 42 | Jan 9, 2026 |
| PDCD10 | 4 | Jan 9, 2026 |
| PDE1A | 1 | Jan 24, 2024 |
| PDE3B | 2 | Aug 5, 2019 |
| PDE5A | 1 | Jan 9, 2026 |
| PDE6A | 12 | Jan 24, 2024 |
| PDE6B | 12 | Jan 24, 2024 |
| PDE6B-AS1 | 1 | Jan 24, 2024 |
| PDGFRA | 22 | Jan 9, 2026 |
| PDHX | 4 | Jan 24, 2024 |
| PDK3 | 4 | Jan 9, 2026 |
| PDSS1 | 1 | Oct 10, 2018 |
| PDX1 | 11 | Jan 9, 2026 |
| PDZD7 | 2 | Jan 24, 2024 |
| PDZD8 | 1 | Jan 28, 2025 |
| PEX1 | 11 | Jan 9, 2026 |
| PEX10 | 1 | Jan 24, 2024 |
| PEX11B | 1 | Jan 28, 2025 |
| PEX12 | 4 | Jan 9, 2026 |
| PEX13 | 1 | Jan 4, 2022 |
| PEX14 | 2 | Jan 24, 2024 |
| PEX19 | 1 | Jan 24, 2024 |
| PEX2 | 1 | Jan 28, 2025 |
| PEX26 | 2 | Jan 28, 2025 |
| PEX3 | 1 | Jan 9, 2026 |
| PEX6 | 12 | Jan 9, 2026 |
| PEX7 | 11 | Jan 9, 2026 |
| PFKL | 12 | Aug 5, 2019 |
| PFKM | 58 | Jan 9, 2026 |
| PGAM2 | 5 | Jan 9, 2026 |
| PGAP6 | 1 | Jan 24, 2024 |
| PGGHG | 1 | Jan 24, 2024 |
| PGK1 | 19 | Jan 9, 2026 |
| PGM1 | 6 | Jan 9, 2026 |
| PHF2 | 1 | Jan 28, 2025 |
| PHF3 | 2 | Dec 11, 2020 |
| PHF6 | 3 | Jan 28, 2025 |
| PHGDH | 3 | Jan 9, 2026 |
| PHKA1 | 4 | Jan 9, 2026 |
| PHKA2 | 11 | Jan 9, 2026 |
| PHKB | 15 | Jan 9, 2026 |
| PHKG2 | 2 | Jan 9, 2026 |
| PHOX2B | 10 | Jan 24, 2024 |
| PHYH | 1 | Jan 9, 2026 |
| PIERCE2 | 1 | Jan 9, 2026 |
| PIEZO1 | 556 | Jan 9, 2026 |
| PIEZO2 | 7 | Jan 9, 2026 |
| PIGA | 4 | Jan 9, 2026 |
| PIGG | 8 | Jan 9, 2026 |
| PIGN | 8 | Jan 9, 2026 |
| PIGO | 5 | Jan 9, 2026 |
| PIGQ | 11 | Jan 9, 2026 |
| PIGT | 3 | Jan 9, 2026 |
| PIGV | 1 | Jan 9, 2026 |
| PIK3CA | 5 | Jan 24, 2024 |
| PIK3CB | 1 | Jan 28, 2025 |
| PIK3CD | 21 | Jan 9, 2026 |
| PIK3CG | 9 | Jan 24, 2024 |
| PIK3R1 | 13 | Jan 9, 2026 |
| PINK1 | 7 | Jan 24, 2024 |
| PINK1-AS | 5 | Jan 24, 2024 |
| PITRM1 | 2 | Jan 24, 2024 |
| PJVK | 3 | Jan 24, 2024 |
| PKD1 | 449 | Jan 9, 2026 |
| PKD1-AS1 | 42 | Oct 24, 2024 |
| PKD1L1 | 7 | Jan 9, 2026 |
| PKD2 | 53 | Dec 11, 2020 |
| PKD2L2-DT | 8 | Jan 24, 2024 |
| PKHD1 | 4 | Jan 28, 2025 |
| PKLR | 79 | Jan 9, 2026 |
| PKP2 | 48 | Jan 9, 2026 |
| PKP3 | 2 | Jan 24, 2024 |
| PLCB1 | 7 | Jan 9, 2026 |
| PLCG2 | 50 | Jan 9, 2026 |
| PLCL2 | 1 | Jan 9, 2026 |
| PLEC | 1 | Jan 28, 2025 |
| PLEKHG2 | 1 | Jan 9, 2026 |
| PLEKHG3 | 8 | Jan 9, 2026 |
| PLEKHG5 | 49 | Jan 9, 2026 |
| PLN | 3 | Jan 28, 2025 |
| PLOD1 | 71 | Jan 9, 2026 |
| PLOD2 | 8 | Jan 28, 2025 |
| PLOD3 | 22 | Jan 24, 2024 |
| PLPBP | 4 | Jan 9, 2026 |
| PLS3 | 4 | Jan 9, 2026 |
| PLUT | 2 | Jan 9, 2026 |
| PLXNA4 | 1 | Jan 28, 2025 |
| PLXNB3 | 1 | Jan 6, 2023 |
| PLXNB3-AS1 | 24 | Jan 4, 2022 |
| PLXND1 | 1 | Jan 24, 2024 |
| PMM2 | 5 | Jan 9, 2026 |
| PMP2 | 1 | Jan 28, 2025 |
| PMP22 | 7 | Jan 9, 2026 |
| PMS2 | 101 | Jan 9, 2026 |
| PNKP | 11 | Jan 9, 2026 |
| PNP | 1 | Jan 24, 2024 |
| PNPLA6 | 1 | Dec 11, 2020 |
| PNPO | 1 | Jan 9, 2026 |
| POGZ | 1 | Jan 28, 2025 |
| POLD1 | 49 | Jan 9, 2026 |
| POLE | 96 | Jan 9, 2026 |
| POLG | 35 | Jan 9, 2026 |
| POLG2 | 3 | Jan 24, 2024 |
| POLGARF | 33 | Jan 9, 2026 |
| POLR1C | 1 | Jan 9, 2026 |
| POLR2A | 1 | Jan 28, 2025 |
| POLR3B | 2 | Jan 24, 2024 |
| POLR3H | 1 | Jan 9, 2026 |
| POR | 47 | Jan 9, 2026 |
| POT1 | 4 | Jan 9, 2026 |
| POU3F4 | 4 | Jan 24, 2024 |
| POU4F3 | 2 | Aug 5, 2019 |
| PPIB | 10 | Jan 9, 2026 |
| PPM1B | 1 | Aug 5, 2019 |
| PPP1R12A | 1 | Jan 28, 2025 |
| PPP1R12A-AS2 | 1 | Jan 28, 2025 |
| PPP2R1A | 1 | Jan 28, 2025 |
| PPP2R5D | 2 | Jan 9, 2026 |
| PPP6R1 | 2 | Jan 4, 2022 |
| PPRC1 | 1 | Jan 28, 2025 |
| PPT1 | 1 | Jan 9, 2026 |
| PRCD | 1 | Oct 10, 2018 |
| PRDM16 | 51 | Jan 9, 2026 |
| PREPL | 1 | Jan 24, 2024 |
| PRICKLE2 | 5 | Jan 9, 2026 |
| PRICKLE2-AS1 | 1 | Jan 9, 2026 |
| PRKACB | 1 | Jan 24, 2024 |
| PRKAG2 | 30 | Jan 9, 2026 |
| PRKAR1A | 5 | Jan 9, 2026 |
| PRKCD | 10 | Jan 9, 2026 |
| PRKCSH | 2 | Jan 9, 2026 |
| PRKDC | 6 | Jan 24, 2024 |
| PRKG1 | 24 | Jan 9, 2026 |
| PRNP | 10 | Jan 9, 2026 |
| PROK2 | 1 | Jan 28, 2025 |
| PROM1 | 7 | Jan 24, 2024 |
| PRPF31 | 5 | Jan 24, 2024 |
| PRPF31-AS1 | 1 | Jan 24, 2024 |
| PRPF8 | 15 | Jan 24, 2024 |
| PRPH2 | 2 | Jan 24, 2024 |
| PRPS1 | 2 | Jan 9, 2026 |
| PRRT2 | 2 | Jan 9, 2026 |
| PRSS1 | 61 | Jan 9, 2026 |
| PRX | 44 | Jan 9, 2026 |
| PSAP | 8 | Jan 9, 2026 |
| PSD | 1 | Jun 30, 2017 |
| PSEN1 | 10 | Jan 9, 2026 |
| PSEN2 | 10 | Jan 9, 2026 |
| PSMB10 | 1 | Jan 9, 2026 |
| PSMD1 | 1 | Oct 10, 2018 |
| PSMD11 | 1 | Jan 24, 2024 |
| PSME3 | 1 | Jan 28, 2025 |
| PSTPIP1 | 79 | Jan 9, 2026 |
| PTCH1 | 39 | Jan 9, 2026 |
| PTCHD1 | 3 | Oct 10, 2018 |
| PTEN | 48 | Jan 9, 2026 |
| PTH1R | 22 | Jan 9, 2026 |
| PTP4A3 | 1 | Jan 9, 2026 |
| PTPN11 | 81 | Jan 9, 2026 |
| PTPN12 | 1 | Jan 28, 2025 |
| PTPN23 | 17 | Jan 9, 2026 |
| PTPRA | 1 | Jan 9, 2026 |
| PTPRB | 2 | Jan 4, 2022 |
| PTPRB-AS1 | 2 | Jan 4, 2022 |
| PTPRC | 14 | Jan 24, 2024 |
| PUS1 | 4 | Jan 24, 2024 |
| PUS10 | 1 | Jan 4, 2022 |
| PUSL1 | 1 | Jan 4, 2022 |
| PVALB | 1 | Dec 11, 2020 |
| PYGL | 14 | Jan 9, 2026 |
| PYGM | 17 | Jan 9, 2026 |
| QARS1 | 12 | Jan 9, 2026 |
| QDPR | 4 | Jan 9, 2026 |
| RAB33A | 8 | Jan 28, 2025 |
| RAB40AL | 9 | Jan 6, 2023 |
| RAB7A | 4 | Jan 9, 2026 |
| RAC2 | 4 | Jan 9, 2026 |
| RAC3 | 1 | Jan 9, 2026 |
| RAD21 | 1 | Jan 9, 2026 |
| RAD51C | 12 | Jan 9, 2026 |
| RAD51D | 28 | Jan 9, 2026 |
| RAD51L3-RFFL | 28 | Jan 9, 2026 |
| RAD54L2 | 1 | Jan 24, 2024 |
| RAF1 | 25 | Jan 9, 2026 |
| RAG1 | 16 | Jan 9, 2026 |
| RAG2 | 8 | Jan 9, 2026 |
| RAI1 | 1 | Jan 28, 2025 |
| RALB | 1 | Dec 11, 2020 |
| RANBP2 | 2 | Jan 24, 2024 |
| RAPGEF5 | 1 | Jan 24, 2024 |
| RARS2 | 6 | Jan 9, 2026 |
| RASA1 | 53 | Jan 9, 2026 |
| RASA2 | 13 | Jan 9, 2026 |
| RB1 | 22 | Jan 9, 2026 |
| RBCK1 | 5 | Jan 9, 2026 |
| RBFOX3 | 1 | Jan 6, 2023 |
| RBM20 | 48 | Jan 9, 2026 |
| RBM27-POU4F3 | 2 | Aug 5, 2019 |
| RBM8A | 1 | Jan 28, 2025 |
| RD3 | 6 | Jan 24, 2024 |
| RDH12 | 1 | Jan 24, 2024 |
| RDX | 1 | Jan 6, 2023 |
| RECQL | 17 | Jan 9, 2026 |
| RECQL4 | 1 | Dec 11, 2020 |
| REEP1 | 7 | Jan 9, 2026 |
| RELN | 17 | Jan 9, 2026 |
| RERE | 1 | Jan 4, 2022 |
| RET | 78 | Jan 9, 2026 |
| RETREG1 | 16 | Jan 9, 2026 |
| RETREG1-AS1 | 3 | Jan 9, 2026 |
| RFT1 | 5 | Jan 9, 2026 |
| RFX4-AS1 | 1 | Jan 6, 2023 |
| RFX5 | 1 | Jan 9, 2026 |
| RFX6 | 11 | Jan 9, 2026 |
| RGR | 1 | Jan 24, 2024 |
| RHO | 6 | Jan 24, 2024 |
| RIF1 | 2 | Jan 9, 2026 |
| RIPPLY1 | 1 | Jan 28, 2025 |
| RIT1 | 8 | Jan 9, 2026 |
| RLBP1 | 5 | Dec 11, 2020 |
| RMND5B | 2 | Jan 28, 2025 |
| RMRP | 12 | Jan 9, 2026 |
| RNASEH2B | 3 | Jan 9, 2026 |
| RNASEH2C | 2 | Jan 9, 2026 |
| RNF168 | 11 | Jan 9, 2026 |
| RNF213 | 1 | Aug 5, 2019 |
| RNF213-AS1 | 1 | Aug 5, 2019 |
| ROGDI | 2 | Jan 9, 2026 |
| ROM1 | 1 | Jan 24, 2024 |
| RORB | 3 | Jan 9, 2026 |
| RP1 | 17 | Jan 24, 2024 |
| RP2 | 2 | Jan 24, 2024 |
| RP9 | 4 | Jan 24, 2024 |
| RPE65 | 4 | Jan 24, 2024 |
| RPGR | 7 | Jan 24, 2024 |
| RPGRIP1 | 17 | Jan 24, 2024 |
| RPL11 | 3 | Jan 9, 2026 |
| RPL15 | 5 | Jan 9, 2026 |
| RPL26 | 1 | Jan 28, 2025 |
| RPL36A-HNRNPH2 | 11 | Jan 9, 2026 |
| RPL5 | 5 | Jan 9, 2026 |
| RPS10 | 3 | Jan 28, 2025 |
| RPS10-NUDT3 | 3 | Jan 28, 2025 |
| RPS15 | 2 | Jun 30, 2017 |
| RPS19 | 8 | Jan 9, 2026 |
| RPS24 | 8 | Jan 9, 2026 |
| RPS26 | 2 | Jan 9, 2026 |
| RPS6KA3 | 1 | Oct 10, 2018 |
| RPS7 | 3 | Jan 9, 2026 |
| RRM2B | 1 | Jun 30, 2017 |
| RS1 | 3 | Jan 9, 2026 |
| RSPH1 | 8 | Jan 9, 2026 |
| RSPH3 | 7 | Jan 9, 2026 |
| RSPH4A | 6 | Jan 9, 2026 |
| RSPH9 | 2 | Jan 9, 2026 |
| RTEL1 | 57 | Jan 9, 2026 |
| RTEL1-TNFRSF6B | 57 | Jan 9, 2026 |
| RUNX1 | 9 | Jan 9, 2026 |
| RUNX2 | 15 | Jan 9, 2026 |
| RYR1 | 83 | Jan 9, 2026 |
| RYR2 | 150 | Jan 9, 2026 |
| RYR3 | 3 | Jan 24, 2024 |
| SACK1B | 1 | Jan 24, 2024 |
| SACS | 1 | Jan 24, 2024 |
| SAG | 6 | Jan 24, 2024 |
| SAMD9 | 30 | Jan 9, 2026 |
| SAMD9L | 29 | Jan 9, 2026 |
| SAMHD1 | 3 | Jan 9, 2026 |
| SASH1 | 1 | Dec 11, 2020 |
| SATB2 | 2 | Jan 9, 2026 |
| SBDS | 6 | Jun 30, 2017 |
| SBF1 | 100 | Jan 9, 2026 |
| SBF2 | 40 | Jan 9, 2026 |
| SBF2-AS1 | 8 | Jan 28, 2025 |
| SC5D | 1 | Aug 5, 2019 |
| SCAMP4 | 1 | Jan 9, 2026 |
| SCARB2 | 8 | Jan 9, 2026 |
| SCN10A | 2 | Jan 24, 2024 |
| SCN1A | 14 | Jan 9, 2026 |
| SCN1A-AS1 | 45 | Jan 9, 2026 |
| SCN1B | 15 | Jan 9, 2026 |
| SCN2A | 7 | Jan 9, 2026 |
| SCN2B | 1 | Jan 24, 2024 |
| SCN3A | 12 | Jan 9, 2026 |
| SCN3B | 8 | Jan 6, 2023 |
| SCN4A | 3 | Jan 24, 2024 |
| SCN4B | 3 | Jan 4, 2022 |
| SCN5A | 107 | Jan 9, 2026 |
| SCN8A | 6 | Jan 9, 2026 |
| SCN9A | 51 | Jan 9, 2026 |
| SCNN1A | 1 | Jan 9, 2026 |
| SCNN1D | 1 | Jan 4, 2022 |
| SCO1 | 2 | Jan 24, 2024 |
| SCO2 | 5 | Jan 24, 2024 |
| SDHA | 44 | Jan 9, 2026 |
| SDHAF1 | 1 | Oct 10, 2018 |
| SDHAF2 | 1 | Jan 9, 2026 |
| SDHB | 34 | Jan 9, 2026 |
| SDHC | 16 | Jan 9, 2026 |
| SDHD | 17 | Jan 9, 2026 |
| SEC23B | 75 | Jan 9, 2026 |
| SEC24D | 13 | Jan 9, 2026 |
| SECTM1 | 1 | Dec 11, 2020 |
| SEMA4A | 2 | Jan 24, 2024 |
| SERPINF1 | 8 | Jan 9, 2026 |
| SERPINH1 | 18 | Jan 9, 2026 |
| SERPINI1 | 5 | Jan 9, 2026 |
| SETBP1 | 15 | Jan 9, 2026 |
| SETD5 | 2 | Jan 24, 2024 |
| SETDB1 | 1 | Jan 6, 2023 |
| SETX | 68 | Jan 9, 2026 |
| SGCA | 8 | Jan 24, 2024 |
| SGCB | 3 | Jan 6, 2023 |
| SGCD | 12 | Jan 9, 2026 |
| SGCG | 8 | Jan 24, 2024 |
| SH2B3 | 21 | Jan 9, 2026 |
| SH3TC2 | 40 | Jan 9, 2026 |
| SHANK2 | 2 | Jan 9, 2026 |
| SHH | 8 | Jan 24, 2024 |
| SHOC2 | 11 | Jan 9, 2026 |
| SHOX | 11 | Jan 9, 2026 |
| SIL1 | 1 | Jan 9, 2026 |
| SIX1 | 1 | Jan 6, 2023 |
| SIX3 | 6 | Jan 9, 2026 |
| SKI | 64 | Jan 9, 2026 |
| SKIC3 | 23 | Jan 9, 2026 |
| SLC12A2 | 1 | Jan 6, 2023 |
| SLC12A5 | 4 | Jan 9, 2026 |
| SLC12A6 | 28 | Jan 9, 2026 |
| SLC12A9 | 5 | Jan 9, 2026 |
| SLC13A5 | 6 | Jan 9, 2026 |
| SLC16A1 | 5 | Jan 9, 2026 |
| SLC17A5 | 1 | Jun 30, 2017 |
| SLC19A2 | 14 | Jan 9, 2026 |
| SLC19A3 | 6 | Jan 9, 2026 |
| SLC1A2 | 2 | Jan 28, 2025 |
| SLC22A31 | 2 | Jan 28, 2025 |
| SLC22A5 | 43 | Jan 9, 2026 |
| SLC25A12 | 3 | Jan 9, 2026 |
| SLC25A13 | 7 | Jan 24, 2024 |
| SLC25A15 | 2 | Jan 24, 2024 |
| SLC25A19 | 3 | Oct 10, 2018 |
| SLC25A20 | 1 | Jun 30, 2017 |
| SLC25A22 | 7 | Jan 9, 2026 |
| SLC25A3 | 1 | Oct 10, 2018 |
| SLC25A4 | 6 | Jan 24, 2024 |
| SLC26A2 | 34 | Jan 9, 2026 |
| SLC26A4 | 30 | Jan 24, 2024 |
| SLC26A4-AS1 | 3 | Aug 5, 2019 |
| SLC26A5 | 4 | Jan 24, 2024 |
| SLC26A5-AS1 | 1 | Jan 9, 2026 |
| SLC26A7 | 1 | Jan 4, 2022 |
| SLC2A1 | 5 | Jan 9, 2026 |
| SLC2A10 | 40 | Jan 9, 2026 |
| SLC2A2 | 4 | Jan 9, 2026 |
| SLC31A1 | 1 | Jan 9, 2026 |
| SLC34A1 | 1 | Jan 24, 2024 |
| SLC34A3 | 15 | Jan 9, 2026 |
| SLC35A2 | 4 | Jan 9, 2026 |
| SLC35C1 | 1 | Jan 6, 2023 |
| SLC35D1 | 7 | Jan 9, 2026 |
| SLC36A2 | 1 | Jan 4, 2022 |
| SLC37A4 | 7 | Jan 9, 2026 |
| SLC38A4 | 1 | Jan 24, 2024 |
| SLC38A5 | 1 | Jan 28, 2025 |
| SLC3A1 | 7 | Jan 24, 2024 |
| SLC46A2 | 1 | Jan 9, 2026 |
| SLC48A1 | 1 | Jan 6, 2023 |
| SLC4A1 | 135 | Jan 9, 2026 |
| SLC4A10 | 1 | Jan 24, 2024 |
| SLC4A2 | 1 | Jan 6, 2023 |
| SLC52A1 | 4 | Jan 28, 2025 |
| SLC52A2 | 1 | Jan 24, 2024 |
| SLC52A3 | 6 | Jan 9, 2026 |
| SLC5A6 | 2 | Jan 9, 2026 |
| SLC5A7 | 10 | Jan 9, 2026 |
| SLC6A1 | 5 | Jan 9, 2026 |
| SLC6A1-AS1 | 1 | Jan 9, 2026 |
| SLC6A5 | 1 | Jan 28, 2025 |
| SLC6A8 | 3 | Jan 24, 2024 |
| SLC6A9 | 1 | Jan 24, 2024 |
| SLC75A1 | 1 | Jan 4, 2022 |
| SLC8A3 | 1 | Jan 4, 2022 |
| SLC9A6 | 5 | Jan 9, 2026 |
| SLCO1B1 | 52 | Jan 9, 2026 |
| SLCO1B3 | 63 | Jan 9, 2026 |
| SLCO1B3-SLCO1B7 | 63 | Jan 9, 2026 |
| SLX4 | 53 | Jan 9, 2026 |
| SMAD2 | 8 | Jan 9, 2026 |
| SMAD3 | 24 | Jan 9, 2026 |
| SMAD4 | 39 | Jan 9, 2026 |
| SMAD6 | 1 | Jan 28, 2025 |
| SMAD9 | 14 | Jan 9, 2026 |
| SMARCA2 | 19 | Jan 9, 2026 |
| SMARCA4 | 56 | Jan 9, 2026 |
| SMARCAL1 | 9 | Jan 9, 2026 |
| SMARCB1 | 10 | Jan 9, 2026 |
| SMARCE1 | 4 | Jan 9, 2026 |
| SMC1A | 4 | Jan 9, 2026 |
| SMC3 | 1 | Jan 4, 2022 |
| SMG8 | 1 | Jan 9, 2026 |
| SMPD1 | 3 | Jan 9, 2026 |
| SNAP25 | 2 | Jan 28, 2025 |
| SNAPC5 | 2 | Jan 6, 2023 |
| SNHG14 | 5 | Jan 9, 2026 |
| SNRNP200 | 10 | Jan 24, 2024 |
| SNTA1 | 17 | Jan 24, 2024 |
| SNX22 | 6 | Jan 24, 2024 |
| SNX29 | 1 | Dec 11, 2020 |
| SOD1 | 2 | Jan 6, 2023 |
| SOD1-DT | 1 | Jan 6, 2023 |
| SON | 1 | Jan 4, 2022 |
| SOS1 | 58 | Jan 9, 2026 |
| SOS2 | 27 | Jan 9, 2026 |
| SOX18 | 1 | Jan 24, 2024 |
| SOX9 | 24 | Jan 9, 2026 |
| SP7 | 3 | Jan 9, 2026 |
| SPAG1 | 7 | Jan 9, 2026 |
| SPAG5 | 2 | Dec 11, 2020 |
| SPAG8 | 1 | Jan 28, 2025 |
| SPARC | 3 | Jan 24, 2024 |
| SPATA31G1 | 1 | Dec 11, 2020 |
| SPG7 | 9 | Jan 9, 2026 |
| SPINK1 | 42 | Jan 9, 2026 |
| SPRED1 | 13 | Jan 9, 2026 |
| SPTA1 | 298 | Jan 9, 2026 |
| SPTAN1 | 14 | Jan 9, 2026 |
| SPTB | 302 | Jan 9, 2026 |
| SPTBN5 | 2 | Jan 9, 2026 |
| SPTLC1 | 13 | Jan 9, 2026 |
| SPTLC2 | 17 | Jan 9, 2026 |
| SQSTM1 | 1 | Jan 9, 2026 |
| SRCAP | 1 | Jan 28, 2025 |
| SRFBP1 | 20 | Jan 9, 2026 |
| SRMS | 2 | Dec 11, 2020 |
| SRP72 | 14 | Jan 9, 2026 |
| SRRM2 | 1 | Jan 28, 2025 |
| SSBP2 | 1 | Dec 11, 2020 |
| SSBP3 | 1 | Jan 9, 2026 |
| SSUH2 | 2 | Jan 24, 2024 |
| ST20-MTHFS | 1 | Jan 6, 2023 |
| ST3GAL3 | 2 | Jan 9, 2026 |
| ST3GAL5 | 3 | Jan 9, 2026 |
| ST6GALNAC4-ST6GALNAC6-AK1 | 26 | Jan 9, 2026 |
| STAG2 | 1 | Jan 28, 2025 |
| STAMBP | 3 | Jan 9, 2026 |
| STARD9 | 2 | Jan 24, 2024 |
| STAT3 | 4 | Jan 9, 2026 |
| STAT5B | 1 | Jan 28, 2025 |
| STIM1 | 1 | Jan 6, 2023 |
| STK11 | 34 | Jan 9, 2026 |
| STRADA | 1 | Jan 28, 2025 |
| STRC | 6 | Aug 5, 2019 |
| STX1B | 2 | Jan 28, 2025 |
| STXBP1 | 5 | Jan 9, 2026 |
| STYXL1 | 2 | Jan 9, 2026 |
| SUCLA2 | 5 | Jan 9, 2026 |
| SUCLG1 | 8 | Jan 9, 2026 |
| SUFU | 11 | Jan 9, 2026 |
| SUN2 | 1 | Jan 24, 2024 |
| SUOX | 6 | Jan 9, 2026 |
| SUPT3H | 1 | Jan 4, 2022 |
| SURF1 | 4 | Jan 6, 2023 |
| SVIL | 1 | Jan 9, 2026 |
| SYCE2 | 2 | Dec 11, 2020 |
| SYN1 | 2 | Jan 28, 2025 |
| SYNE1 | 55 | Jan 28, 2025 |
| SYNE2 | 1 | Jan 28, 2025 |
| SYNE4 | 1 | Jan 4, 2022 |
| SYNGAP1 | 2 | Jan 9, 2026 |
| SYNJ1 | 10 | Jan 9, 2026 |
| SZT2 | 19 | Jan 9, 2026 |
| SZT2-AS1 | 1 | Jan 28, 2025 |
| TAF10 | 3 | Aug 5, 2019 |
| TAF1C | 1 | Jan 24, 2024 |
| TAF1L | 1 | Jan 24, 2024 |
| TAF4 | 1 | Feb 2, 2022 |
| TAFAZZIN | 3 | Jan 9, 2026 |
| TAMM41 | 1 | Jan 9, 2026 |
| TANC2 | 2 | Jan 28, 2025 |
| TARDBP | 1 | Jan 24, 2024 |
| TARID | 3 | Jan 24, 2024 |
| TAS1R2 | 1 | Dec 11, 2020 |
| TBC1D24 | 9 | Jan 9, 2026 |
| TBCEL-TECTA | 24 | Jan 24, 2024 |
| TBCK | 2 | Jan 24, 2024 |
| TBL1XR1 | 3 | Jan 9, 2026 |
| TBR1 | 1 | Jan 6, 2023 |
| TBRG1 | 1 | Dec 11, 2020 |
| TBX20 | 1 | Jan 24, 2024 |
| TBX4 | 4 | Jan 9, 2026 |
| TCAP | 5 | Jan 9, 2026 |
| TCEA2 | 1 | Jan 24, 2024 |
| TCF20 | 2 | Jan 24, 2024 |
| TCF3 | 29 | Jan 9, 2026 |
| TCF4 | 4 | Jan 9, 2026 |
| TCIRG1 | 5 | Jan 9, 2026 |
| TCN1 | 5 | Jan 24, 2024 |
| TCN2 | 20 | Jan 9, 2026 |
| TCP11L2 | 1 | Dec 11, 2020 |
| TCTN2 | 1 | Jan 24, 2024 |
| TDG | 1 | Jan 28, 2025 |
| TDP1 | 11 | Jan 9, 2026 |
| TECRL | 7 | Jan 9, 2026 |
| TECTA | 24 | Jan 24, 2024 |
| TEK | 25 | Jan 9, 2026 |
| TENM4 | 1 | Jan 24, 2024 |
| TEP1 | 1 | Jan 28, 2025 |
| TERC | 5 | Jan 9, 2026 |
| TERT | 45 | Jan 9, 2026 |
| TET1 | 1 | Jan 6, 2023 |
| TET2 | 26 | Jan 9, 2026 |
| TET2-AS1 | 26 | Jan 9, 2026 |
| TET3 | 1 | Jan 28, 2025 |
| TFE3 | 1 | Jan 4, 2022 |
| TFG | 16 | Jan 9, 2026 |
| TGFB2 | 20 | Jan 9, 2026 |
| TGFB3 | 23 | Jan 9, 2026 |
| TGFBR1 | 27 | Jan 9, 2026 |
| TGFBR2 | 42 | Jan 9, 2026 |
| TGIF1 | 6 | Jan 24, 2024 |
| TH | 1 | Jan 24, 2024 |
| THBS1 | 1 | Jan 6, 2023 |
| THEMIS2 | 1 | Jan 6, 2023 |
| THSD4 | 1 | Jan 24, 2024 |
| TIAM1 | 1 | Jan 24, 2024 |
| TINF2 | 7 | Jan 9, 2026 |
| TJP2 | 1 | Dec 11, 2020 |
| TK2 | 2 | Dec 11, 2020 |
| TKFC | 1 | Jan 9, 2026 |
| TLDC2 | 1 | Jan 28, 2025 |
| TLN2 | 2 | Dec 11, 2020 |
| TMC1 | 4 | Jan 24, 2024 |
| TMEM127 | 4 | Jan 9, 2026 |
| TMEM26 | 1 | Jan 4, 2022 |
| TMEM38B | 4 | Jan 9, 2026 |
| TMEM43 | 26 | Jan 9, 2026 |
| TMEM70 | 1 | Jan 24, 2024 |
| TMIE | 2 | Jan 24, 2024 |
| TMPO | 5 | Jan 24, 2024 |
| TMPPE | 1 | Jan 9, 2026 |
| TMPRSS13 | 2 | Dec 11, 2020 |
| TMPRSS3 | 10 | Jan 24, 2024 |
| TMPRSS6 | 1 | Jan 28, 2025 |
| TNFAIP3 | 31 | Jan 9, 2026 |
| TNFRSF13B | 26 | Jan 9, 2026 |
| TNFRSF13C | 7 | Jan 24, 2024 |
| TNFRSF1A | 35 | Jan 9, 2026 |
| TNFSF12 | 1 | Apr 30, 2022 |
| TNFSF12-TNFSF13 | 1 | Apr 30, 2022 |
| TNNC1 | 4 | Jan 9, 2026 |
| TNNI2 | 3 | Jan 9, 2026 |
| TNNI3 | 13 | Jan 9, 2026 |
| TNNI3K | 22 | Jan 9, 2026 |
| TNNT2 | 21 | Jan 9, 2026 |
| TOE1 | 1 | Jan 24, 2024 |
| TOMT | 1 | Jan 24, 2024 |
| TONSL | 1 | Jan 4, 2022 |
| TONSL-AS1 | 1 | Jan 4, 2022 |
| TOPORS | 4 | Jan 4, 2022 |
| TP53 | 57 | Jan 9, 2026 |
| TPI1 | 23 | Jan 9, 2026 |
| TPK1 | 1 | Jan 28, 2025 |
| TPM1 | 10 | Jan 9, 2026 |
| TPM1-AS | 1 | Jan 28, 2025 |
| TPO | 2 | Jan 9, 2026 |
| TPP1 | 5 | Jan 9, 2026 |
| TPRN | 8 | Jan 24, 2024 |
| TRAF7 | 1 | Jan 28, 2025 |
| TRAP1 | 1 | Dec 11, 2020 |
| TRAPPC10 | 1 | Dec 11, 2020 |
| TRAPPC12 | 1 | Jan 28, 2025 |
| TRAPPC9 | 2 | Jan 28, 2025 |
| TRB | 61 | Jan 9, 2026 |
| TRDN | 39 | Jan 9, 2026 |
| TRDN-AS1 | 2 | Jan 9, 2026 |
| TRIM2 | 13 | Jan 9, 2026 |
| TRIM59-IFT80 | 22 | Jan 9, 2026 |
| TRIM71 | 1 | Jan 9, 2026 |
| TRIO | 2 | Jan 9, 2026 |
| TRIOBP | 15 | Jan 24, 2024 |
| TRIP11 | 71 | Jan 9, 2026 |
| TRIP4 | 1 | Jan 24, 2024 |
| TRMU | 10 | Jan 24, 2024 |
| TRNT1 | 4 | Jan 9, 2026 |
| TRPM3 | 1 | Jan 24, 2024 |
| TRPM4 | 36 | Jan 24, 2024 |
| TRPV4 | 62 | Jan 9, 2026 |
| TRRAP | 3 | Jan 28, 2025 |
| TSC1 | 50 | Jan 9, 2026 |
| TSC2 | 172 | Jan 9, 2026 |
| TSEN54 | 6 | Jan 28, 2025 |
| TSPAN31 | 1 | Jan 9, 2026 |
| TSPAN7 | 1 | Jan 24, 2024 |
| TTC14 | 4 | Jan 9, 2026 |
| TTC21B | 44 | Jan 9, 2026 |
| TTC21B-AS1 | 5 | Jan 28, 2025 |
| TTC8 | 3 | Aug 5, 2019 |
| TTN | 1049 | Jan 9, 2026 |
| TTN-AS1 | 525 | Jan 9, 2026 |
| TTR | 58 | Jan 9, 2026 |
| TUBB4A | 1 | Dec 11, 2020 |
| TUBB6 | 1 | Jan 24, 2024 |
| TUFM | 2 | Jan 24, 2024 |
| TULP1 | 10 | Jan 24, 2024 |
| TWNK | 4 | Jan 24, 2024 |
| TYMP | 6 | Jan 24, 2024 |
| TYR | 1 | Jan 24, 2024 |
| UBA5 | 1 | Jan 9, 2026 |
| UBE2A | 1 | Jun 30, 2017 |
| UBE2T | 2 | Jan 9, 2026 |
| UBE3A | 5 | Jan 9, 2026 |
| UBR4 | 1 | Dec 11, 2020 |
| UBTF | 1 | Jan 4, 2022 |
| UFM1 | 1 | Jan 6, 2023 |
| UGT1A | 123 | Jan 9, 2026 |
| UGT1A1 | 75 | Jan 9, 2026 |
| UGT1A10 | 123 | Jan 9, 2026 |
| UGT1A3 | 76 | Jan 9, 2026 |
| UGT1A4 | 76 | Jan 9, 2026 |
| UGT1A5 | 76 | Jan 9, 2026 |
| UGT1A6 | 93 | Jan 9, 2026 |
| UGT1A7 | 122 | Jan 9, 2026 |
| UGT1A8 | 123 | Jan 9, 2026 |
| UGT1A9 | 123 | Jan 9, 2026 |
| UMPS | 1 | Jan 24, 2024 |
| UNC5A | 1 | Jan 4, 2022 |
| UNC80 | 22 | Jan 9, 2026 |
| UNG | 7 | Jan 9, 2026 |
| UPP1 | 2 | Dec 11, 2020 |
| UQCRB | 1 | Aug 5, 2019 |
| UQCRQ | 1 | Oct 10, 2018 |
| USB1 | 4 | Jan 9, 2026 |
| USH1C | 21 | Jan 24, 2024 |
| USH1G | 5 | Jan 24, 2024 |
| USH2A | 112 | Jul 15, 2025 |
| USH2A-AS1 | 8 | Jan 24, 2024 |
| USH2A-AS2 | 4 | Jan 24, 2024 |
| USP53 | 1 | Jan 9, 2026 |
| UTP14C | 1 | Jan 24, 2024 |
| VANGL1 | 2 | Jan 9, 2026 |
| VARS2 | 1 | Jan 4, 2022 |
| VAV1 | 12 | Jan 24, 2024 |
| VAV2 | 1 | Dec 11, 2020 |
| VCAN | 6 | Jan 9, 2026 |
| VCAN-AS1 | 5 | Jan 9, 2026 |
| VCL | 33 | Jan 9, 2026 |
| VEGFC | 4 | Jan 9, 2026 |
| VHL | 19 | Jan 9, 2026 |
| VPS13A | 16 | Jan 9, 2026 |
| VPS41 | 1 | Jan 28, 2025 |
| VPS45 | 5 | Jan 9, 2026 |
| VRK2 | 5 | Jan 9, 2026 |
| VWA1 | 1 | Jan 24, 2024 |
| VWF | 261 | Jan 9, 2026 |
| WAC | 1 | Aug 5, 2019 |
| WARS2 | 2 | Jan 9, 2026 |
| WAS | 5 | Jan 9, 2026 |
| WASHC4 | 1 | Oct 10, 2018 |
| WDR19 | 42 | Jan 9, 2026 |
| WDR35 | 36 | Jan 9, 2026 |
| WDR35-DT | 1 | Jan 24, 2024 |
| WFS1 | 87 | Jan 9, 2026 |
| WHRN | 13 | Jan 24, 2024 |
| WNK1 | 58 | Jan 9, 2026 |
| WNT1 | 2 | Jan 28, 2025 |
| WRAP53 | 17 | Jan 9, 2026 |
| WSCD2 | 1 | Jan 24, 2024 |
| WT1 | 11 | Jan 9, 2026 |
| WWOX | 5 | Jan 9, 2026 |
| XBP1 | 1 | Aug 5, 2019 |
| XIAP | 4 | Jan 9, 2026 |
| XRN1 | 1 | Jan 24, 2024 |
| YARS1 | 10 | Jan 9, 2026 |
| YARS2 | 3 | Jan 9, 2026 |
| ZBTB24 | 12 | Jan 9, 2026 |
| ZDHHC8 | 1 | Jan 4, 2022 |
| ZEB2 | 6 | Jan 9, 2026 |
| ZFP57 | 18 | Jan 9, 2026 |
| ZIC2 | 6 | Jan 9, 2026 |
| ZIC3 | 1 | Jan 9, 2026 |
| ZMYM2 | 2 | Jan 28, 2025 |
| ZMYND10 | 9 | Jan 9, 2026 |
| ZNF264 | 1 | Jan 9, 2026 |
| ZNF276 | 6 | Jan 9, 2026 |
| ZNF292 | 1 | Jan 9, 2026 |
| ZNF429 | 1 | Jan 24, 2024 |
| ZNF518A | 4 | Jan 28, 2025 |
| ZNF518B | 1 | Jan 24, 2024 |
| ZNF711 | 1 | Jan 24, 2024 |
| ZNF746 | 1 | Jan 24, 2024 |
| ZSWIM6 | 1 | Jan 28, 2025 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3-Methylglutaconic aciduria type 2 | 1 test |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 1 test |
| ALG1-congenital disorder of glycosylation | 1 test |
| ALG3-congenital disorder of glycosylation | 1 test |
| ALG6-congenital disorder of glycosylation 1C | 1 test |
| ALG8 congenital disorder of glycosylation | 1 test |
| ALG9 congenital disorder of glycosylation | 1 test |
| Abacavir hypersensitivity | 1 test |
| Abnormal heart morphology | 1 test |
| Achondrogenesis type II | 2 tests |
| Achondrogenesis, type IA | 2 tests |
| Achondrogenesis, type IB | 2 tests |
| Achondroplasia | 4 tests |
| Acquired hemoglobin H disease | 1 test |
| Acquired polycythemia vera | 1 test |
| Acromicric dysplasia | 1 test |
| Action myoclonus-renal failure syndrome | 1 test |
| Acute Recurrent Myoglobinuria | 1 test |
| Acute lymphoid leukemia | 2 tests |
| Acute myeloid leukemia | 2 tests |
| Acyl-CoA dehydrogenase 9 deficiency | 1 test |
| Acyl-CoA oxidase deficiency | 1 test |
| Adams-Oliver syndrome 5 | 1 test |
| Adenomatous polyposis coli, attenuated | 1 test |
| Adenylosuccinate lyase deficiency | 1 test |
| Adult hypophosphatasia | 1 test |
| 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 |
| Agenesis of the corpus callosum with peripheral neuropathy | 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 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 test |
| Alexander disease | 1 test |
| Allopurinol response | 1 test |
| Alpha trait thalassemia | 2 tests |
| Alpha-1-antitrypsin deficiency | 1 test |
| Alpha-methylacyl-CoA racemase deficiency | 2 tests |
| Alpha-thalassemia and related diseases | 2 tests |
| Alport syndrome | 1 test |
| Alprazolam response | 2 tests |
| Alstrom syndrome | 1 test |
| Alzheimer disease | 2 tests |
| Amelocerebrohypohidrotic syndrome | 1 test |
| Amyloidosis, hereditary systemic 1 | 3 tests |
| Andersen Tawil syndrome | 1 test |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 3 tests |
| Aneurysm-osteoarthritis syndrome | 1 test |
| Angelman syndrome | 3 tests |
| Ankylosing spondylitis | 1 test |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 2 tests |
| Aortic aneurysm, familial thoracic 11, susceptibility to | 1 test |
| Aortic aneurysm, familial thoracic 4 | 1 test |
| Aortic aneurysm, familial thoracic 6 | 1 test |
| Aortic aneurysm, familial thoracic 7 | 1 test |
| Aortic aneurysm, familial thoracic 8 | 1 test |
| Aortic aneurysm, familial thoracic 9 | 1 test |
| Arginase deficiency | 1 test |
| Arginine:glycine amidinotransferase deficiency | 1 test |
| Ariboflavinosis | 1 test |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 test |
| Arrhythmogenic right ventricular dysplasia 10 | 1 test |
| Arrhythmogenic right ventricular dysplasia 11 | 1 test |
| Arrhythmogenic right ventricular dysplasia 12 | 1 test |
| Arrhythmogenic right ventricular dysplasia 2 | 1 test |
| Arrhythmogenic right ventricular dysplasia 5 | 1 test |
| Arrhythmogenic right ventricular dysplasia 8 | 1 test |
| Arrhythmogenic right ventricular dysplasia 9 | 1 test |
| Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair | 1 test |
| Arterial tortuosity syndrome | 1 test |
| Ashkenazi Jewish disorders | 1 test |
| Asphyxiating thoracic dystrophy 2 | 2 tests |
| Asphyxiating thoracic dystrophy 3 | 2 tests |
| Asphyxiating thoracic dystrophy 4 | 2 tests |
| Ataxia-telangiectasia syndrome | 6 tests |
| Ataxia-telangiectasia-like disorder | 1 test |
| Atelosteogenesis | 2 tests |
| Atrial conduction disease | 1 test |
| Atrial fibrillation, familial, 10 | 1 test |
| Atrial fibrillation, familial, 12 | 1 test |
| Atrial fibrillation, familial, 3 | 1 test |
| Atrial fibrillation, familial, 7 | 1 test |
| Atrial fibrillation, familial, 9 | 1 test |
| Atrial septal defect 7 | 1 test |
| Atrioventricular septal defect, partial, with heterotaxy syndrome | 1 test |
| Attenuated familial adenomatous polyposis | 1 test |
| Autism spectrum disorder | 2 tests |
| Autism, susceptibility to, X-linked 3 | 1 test |
| Autoimmune lymphoproliferative syndrome type 4 | 1 test |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 1 test |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 test |
| Autosomal agammaglobulinemia | 1 test |
| Autosomal dominant aplasia and myelodysplasia | 1 test |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 test |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 test |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 test |
| Autosomal dominant slowed nerve conduction velocity | 1 test |
| Autosomal recessive axonal neuropathy with neuromyotonia | 1 test |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 test |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 1 test |
| Autosomal recessive spinocerebellar ataxia 7 | 1 test |
| BAP1-related tumor predisposition syndrome | 3 tests |
| Bannayan-Riley-Ruvalcaba syndrome | 1 test |
| Basal cell carcinoma, susceptibility to, 1 | 1 test |
| Becker muscular dystrophy | 5 tests |
| Bent bone dysplasia syndrome 1 | 2 tests |
| Beta-thalassemia and related diseases | 2 tests |
| Bilateral frontoparietal polymicrogyria | 1 test |
| Biotin-responsive basal ganglia disease | 1 test |
| Biotinidase deficiency | 2 tests |
| Birt-Hogg-Dube syndrome | 3 tests |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 test |
| Blepharophimosis-impaired intellectual development syndrome | 1 test |
| Bloom syndrome | 4 tests |
| Bone fragility with contractures, arterial rupture, and deafness | 1 test |
| Bone marrow failure syndrome 3 | 1 test |
| Bone mineral density quantitative trait locus 18 | 1 test |
| Borjeson-Forssman-Lehmann syndrome | 1 test |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 test |
| Branched-chain keto acid dehydrogenase kinase deficiency | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 2 tests |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 3 tests |
| Brown-Vialetto-van Laere syndrome 1 | 1 test |
| Brown-Vialetto-van Laere syndrome 2 | 1 test |
| Bruck syndrome 2 | 1 test |
| Brugada syndrome | 1 test |
| Brugada syndrome 1 | 1 test |
| Brugada syndrome 3 | 1 test |
| Bupropion response | 5 tests |
| CBL-related disorder | 3 tests |
| Camptomelic dysplasia | 2 tests |
| Canavan Disease, Familial Form | 1 test |
| Capecitabine response | 1 test |
| Capillary malformation-arteriovenous malformation syndrome | 3 tests |
| Carbamazepine hypersensitivity | 1 test |
| Carcinoma of colon | 1 test |
| Carcinoma of pancreas | 1 test |
| Cardiac valvular dysplasia, X-linked | 1 test |
| Cardiofaciocutaneous syndrome 1 | 2 tests |
| Cardiofaciocutaneous syndrome 2 | 1 test |
| Cardiofaciocutaneous syndrome 3 | 1 test |
| Cardiofaciocutaneous syndrome 4 | 1 test |
| Cardiomyopathy | 2 tests |
| Cardiomyopathy, familial restrictive, 1 | 2 tests |
| Cardiomyopathy, familial restrictive, 3 | 2 tests |
| Carney-Stratakis syndrome | 1 test |
| Carnitine acylcarnitine translocase deficiency | 1 test |
| Carnitine palmitoyl transferase 1A deficiency | 1 test |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 1 test |
| Carnitine palmitoyltransferase II deficiency | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 1 test |
| Celiac disease | 1 test |
| Cerebellar atrophy with seizures and variable developmental delay | 1 test |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy | 1 test |
| Cerebral cavernous malformation | 2 tests |
| Cerebral cavernous malformation 1 | 1 test |
| Cerebral cavernous malformation 2 | 1 test |
| Cerebral cavernous malformation 3 | 1 test |
| Cerebral folate transport deficiency | 1 test |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 1 test |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 test |
| Ceroid lipofuscinosis, neuronal, 6A | 1 test |
| Charcot-Marie-Tooth Neuropathy X | 1 test |
| Charcot-Marie-Tooth disease | 2 tests |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 test |
| Charcot-Marie-Tooth disease type 2 | 1 test |
| Charcot-Marie-Tooth disease type 4 | 1 test |
| Charcot-Marie-Tooth disease, type I | 2 tests |
| Charcot-Marie-Tooth disease, type IA | 2 tests |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 test |
| Childhood hypophosphatasia | 1 test |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 test |
| Chondrodysplasia punctata | 2 tests |
| Christianson syndrome | 1 test |
| Chromosome 2p16.3 deletion syndrome | 1 test |
| Chromosome 2q32-q33 deletion syndrome | 1 test |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 test |
| Chronic obstructive pulmonary disease | 1 test |
| Chuvash polycythemia | 3 tests |
| Cleidocranial dysostosis | 2 tests |
| Clozapine response | 2 tests |
| Cole-Carpenter syndrome 1 | 1 test |
| Cole-Carpenter syndrome 2 | 1 test |
| Colorectal cancer | 3 tests |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 2 tests |
| Combined PSAP deficiency | 1 test |
| Combined immunodeficiency due to LRBA deficiency | 1 test |
| Combined malonic and methylmalonic acidemia | 1 test |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 test |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 test |
| Combined oxidative phosphorylation defect type 27 | 1 test |
| Common variable immunodeficiency | 1 test |
| Congenital amegakaryocytic thrombocytopenia | 1 test |
| Congenital bile acid synthesis defect | 1 test |
| Congenital contractural arachnodactyly | 1 test |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 test |
| Congenital disorder of deglycosylation 1 | 1 test |
| Congenital disorder of glycosylation type 1E | 1 test |
| Congenital disorder of glycosylation, type IIr | 1 test |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 1 test |
| Congenital malabsorptive diarrhea 4 | 1 test |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 test |
| Congenital myasthenic syndrome 13 | 1 test |
| Congenital myasthenic syndrome 18 | 1 test |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 1 test |
| Congenital plasminogen activator inhibitor type 1 deficiency | 1 test |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 1 test |
| Congenital vertical talus | 1 test |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 test |
| Cortical dysplasia-focal epilepsy syndrome | 1 test |
| Costello syndrome | 3 tests |
| Cowden syndrome | 1 test |
| Cowden syndrome 1 | 2 tests |
| Cranioectodermal dysplasia | 2 tests |
| Crigler-Najjar syndrome type 1 | 1 test |
| Crigler-Najjar syndrome, type II | 2 tests |
| Curry-Hall syndrome | 2 tests |
| Cutis laxa, X-linked | 1 test |
| Cutis laxa, autosomal recessive, type 1B | 1 test |
| Cyclical neutropenia | 2 tests |
| Cystathioninuria | 1 test |
| Cystic fibrosis | 4 tests |
| DDX41-related hematologic malignancy predisposition syndrome | 1 test |
| DK1-congenital disorder of glycosylation | 1 test |
| DRUG METABOLISM, ALTERED, CYP2C19-RELATED | 2 tests |
| DRUG METABOLISM, ALTERED, CYP2C8-RELATED | 3 tests |
| DYRK1A-related intellectual disability syndrome | 1 test |
| Danon disease | 3 tests |
| Deafness-intellectual disability, Martin-Probst type syndrome | 1 test |
| Deafness-lymphedema-leukemia syndrome | 1 test |
| Debrisoquine, poor metabolism of | 3 tests |
| Debrisoquine, ultrarapid metabolism of | 3 tests |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 1 test |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 tests |
| Deficiency of acetyl-CoA acetyltransferase | 2 tests |
| Deficiency of bisphosphoglycerate mutase | 1 test |
| Deficiency of butyryl-CoA dehydrogenase | 1 test |
| Deficiency of cytochrome-b5 reductase | 2 tests |
| Deficiency of guanidinoacetate methyltransferase | 1 test |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 test |
| Deficiency of malonyl-CoA decarboxylase | 2 tests |
| Desmin-related myofibrillar myopathy | 1 test |
| Developmental and epileptic encephalopathy 101 | 1 test |
| Developmental and epileptic encephalopathy 92 | 1 test |
| Developmental and epileptic encephalopathy 94 | 1 test |
| Developmental and epileptic encephalopathy 99 | 1 test |
| Developmental and epileptic encephalopathy, 1 | 1 test |
| Developmental and epileptic encephalopathy, 12 | 1 test |
| Developmental and epileptic encephalopathy, 13 | 1 test |
| Developmental and epileptic encephalopathy, 15 | 1 test |
| Developmental and epileptic encephalopathy, 17 | 1 test |
| Developmental and epileptic encephalopathy, 18 | 1 test |
| Developmental and epileptic encephalopathy, 19 | 1 test |
| Developmental and epileptic encephalopathy, 2 | 1 test |
| Developmental and epileptic encephalopathy, 21 | 1 test |
| Developmental and epileptic encephalopathy, 23 | 1 test |
| Developmental and epileptic encephalopathy, 25 | 1 test |
| Developmental and epileptic encephalopathy, 26 | 1 test |
| Developmental and epileptic encephalopathy, 27 | 1 test |
| Developmental and epileptic encephalopathy, 28 | 1 test |
| Developmental and epileptic encephalopathy, 29 | 1 test |
| Developmental and epileptic encephalopathy, 3 | 1 test |
| Developmental and epileptic encephalopathy, 31A | 1 test |
| Developmental and epileptic encephalopathy, 32 | 1 test |
| Developmental and epileptic encephalopathy, 33 | 1 test |
| Developmental and epileptic encephalopathy, 35 | 1 test |
| Developmental and epileptic encephalopathy, 36 | 1 test |
| Developmental and epileptic encephalopathy, 37 | 1 test |
| Developmental and epileptic encephalopathy, 38 | 1 test |
| Developmental and epileptic encephalopathy, 39 | 1 test |
| Developmental and epileptic encephalopathy, 4 | 1 test |
| Developmental and epileptic encephalopathy, 41 | 1 test |
| Developmental and epileptic encephalopathy, 42 | 1 test |
| Developmental and epileptic encephalopathy, 43 | 1 test |
| Developmental and epileptic encephalopathy, 44 | 1 test |
| Developmental and epileptic encephalopathy, 47 | 1 test |
| Developmental and epileptic encephalopathy, 48 | 1 test |
| Developmental and epileptic encephalopathy, 5 | 1 test |
| Developmental and epileptic encephalopathy, 50 | 1 test |
| Developmental and epileptic encephalopathy, 51 | 1 test |
| Developmental and epileptic encephalopathy, 52 | 1 test |
| Developmental and epileptic encephalopathy, 53 | 1 test |
| Developmental and epileptic encephalopathy, 54 | 1 test |
| Developmental and epileptic encephalopathy, 58 | 1 test |
| Developmental and epileptic encephalopathy, 59 | 1 test |
| Developmental and epileptic encephalopathy, 69 | 1 test |
| Developmental and epileptic encephalopathy, 7 | 1 test |
| Developmental and epileptic encephalopathy, 74 | 1 test |
| Developmental and epileptic encephalopathy, 77 | 1 test |
| Developmental and epileptic encephalopathy, 8 | 1 test |
| Developmental and epileptic encephalopathy, 81 | 1 test |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 test |
| Developmental and epileptic encephalopathy, 9 | 1 test |
| Developmental delay and seizures with or without movement abnormalities | 1 test |
| Diabetes mellitus, permanent neonatal 2 | 1 test |
| Diamond-Blackfan anemia | 1 test |
| Diastrophic dysplasia | 2 tests |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 test |
| Dihydropteridine reductase deficiency | 1 test |
| Dihydropyrimidine dehydrogenase deficiency | 2 tests |
| Dilated cardiomyopathy 1A | 1 test |
| Dilated cardiomyopathy 1AA | 1 test |
| Dilated cardiomyopathy 1BB | 1 test |
| Dilated cardiomyopathy 1C | 1 test |
| Dilated cardiomyopathy 1CC | 1 test |
| Dilated cardiomyopathy 1D | 2 tests |
| Dilated cardiomyopathy 1DD | 1 test |
| Dilated cardiomyopathy 1EE | 1 test |
| Dilated cardiomyopathy 1G | 1 test |
| Dilated cardiomyopathy 1I | 1 test |
| Dilated cardiomyopathy 1M | 1 test |
| Dilated cardiomyopathy 1O | 1 test |
| Dilated cardiomyopathy 1P | 1 test |
| Dilated cardiomyopathy 1R | 1 test |
| Dilated cardiomyopathy 1S | 1 test |
| Dilated cardiomyopathy 1T | 1 test |
| Dilated cardiomyopathy 1W | 1 test |
| Dilated cardiomyopathy 1X | 2 tests |
| Dilated cardiomyopathy 1Y | 2 tests |
| Dilated cardiomyopathy 1Z | 2 tests |
| Dilated cardiomyopathy 2A | 1 test |
| Dilated cardiomyopathy 3B | 1 test |
| Disorder due cytochrome p450 CYP2C19 variant | 3 tests |
| Disorder due cytochrome p450 CYP2C9 variant | 2 tests |
| Disorder due cytochrome p450 CYP2D6 variant | 3 tests |
| Disorders of Intracellular Cobalamin Metabolism | 1 test |
| Distal arthrogryposis | 1 test |
| Distal spinal muscular atrophy | 1 test |
| Dizygotic twins | 1 test |
| Doxepin response | 2 tests |
| Drug metabolism or response | 3 tests |
| Duchenne muscular dystrophy | 5 tests |
| Dyskeratosis congenita, X-linked | 1 test |
| Dyskeratosis congenita, autosomal dominant 1 | 1 test |
| Dyskeratosis congenita, autosomal dominant 6 | 1 test |
| Dyskeratosis congenita, autosomal recessive 1 | 1 test |
| Dyskeratosis congenita, autosomal recessive 3 | 1 test |
| Dyskeratosis congenita, autosomal recessive 5 | 1 test |
| Dyskeratosis congenita, autosomal recessive 6 | 1 test |
| Early-onset myopathy with fatal cardiomyopathy | 1 test |
| Ectodermal dysplasia and immunodeficiency 2 | 1 test |
| Efavirenz response | 1 test |
| Ehlers-Danlos syndrome, classic type, 1 | 1 test |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 test |
| Ehlers-Danlos syndrome, type 4 | 1 test |
| Ellis-van Creveld syndrome | 2 tests |
| Emery-Dreifuss muscular dystrophy | 1 test |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 test |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2 tests |
| Epilepsy with myoclonic atonic seizures | 1 test |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 test |
| Epilepsy, early-onset, vitamin B6-dependent | 1 test |
| Epilepsy, familial focal, with variable foci 1 | 1 test |
| Epilepsy, familial focal, with variable foci 2 | 1 test |
| Epilepsy, familial focal, with variable foci 3 | 1 test |
| Epilepsy, familial focal, with variable foci 4 | 1 test |
| Epilepsy, familial temporal lobe, 1 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 16 | 1 test |
| Epiphyseal dysplasia, multiple, 3 | 1 test |
| Episodic ataxia type 1 | 1 test |
| Erythrocyte Alloimmunization | 2 tests |
| Erythrocytosis, familial, 3 | 1 test |
| Erythrocytosis, familial, 4 | 1 test |
| Escitalopram response | 2 tests |
| FOXG1 disorder | 1 test |
| Fabry disease | 2 tests |
| Familial Mediterranean fever | 1 test |
| Familial Periodic Fever | 1 test |
| Familial adenomatous polyposis 1 | 3 tests |
| Familial adenomatous polyposis 2 | 3 tests |
| Familial amyloid nephropathy with urticaria AND deafness | 1 test |
| Familial atrial fibrillation | 1 test |
| Familial atrial myxoma | 2 tests |
| Familial cancer of breast | 7 tests |
| Familial cold autoinflammatory syndrome | 1 test |
| Familial cold autoinflammatory syndrome 3 | 1 test |
| Familial colorectal cancer | 2 tests |
| Familial dysautonomia | 3 tests |
| Familial encephalopathy with neuroserpin inclusion bodies | 1 test |
| Familial hemolytic anemia | 1 test |
| Familial hypercholesterolemia | 1 test |
| Familial hyperinsulinism | 1 test |
| Familial medullary thyroid carcinoma | 3 tests |
| Familial meningioma | 1 test |
| Familial multiple polyposis syndrome | 3 tests |
| Familial pulmonary capillary hemangiomatosis | 1 test |
| Familial type 3 hyperlipoproteinemia | 1 test |
| Fanconi anemia | 2 tests |
| Fanconi anemia complementation group C | 2 tests |
| Fanconi anemia complementation group J | 1 test |
| Fanconi anemia complementation group N | 1 test |
| Fanconi anemia complementation group O | 2 tests |
| Fanconi anemia complementation group P | 1 test |
| Fanconi anemia complementation group Q | 1 test |
| Fanconi anemia complementation group T | 1 test |
| Fanconi-Bickel syndrome | 1 test |
| Fatty liver disease, nonalcoholic, susceptibility to, 2 | 1 test |
| Febrile seizures, familial, 1 | 1 test |
| Fentanyl response | 1 test |
| Fetal hemoglobin quantitative trait locus 1 | 2 tests |
| Fibrochondrogenesis 2 | 1 test |
| Fluorouracil response | 2 tests |
| Fragile X syndrome | 3 tests |
| Fragile X-associated tremor/ataxia syndrome | 2 tests |
| Frontometaphyseal dysplasia | 2 tests |
| Frontometaphyseal dysplasia 1 | 1 test |
| Fructose-biphosphatase deficiency | 1 test |
| G6PD deficiency | 2 tests |
| GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 1 test |
| GM3 synthase deficiency | 1 test |
| Galactosemia | 3 tests |
| Galactosylceramide beta-galactosidase deficiency | 1 test |
| Gamma-aminobutyric acid transaminase deficiency | 1 test |
| Gardner syndrome | 1 test |
| Gaucher disease | 3 tests |
| Gaucher disease due to saposin C deficiency | 1 test |
| Gaucher disease perinatal lethal | 2 tests |
| Gaucher disease type I | 2 tests |
| Gaucher disease type II | 2 tests |
| Gaucher disease type III | 2 tests |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 2 tests |
| Geleophysic dysplasia 2 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 test |
| Genetic cardiac rhythm disease | 1 test |
| Geroderma osteodysplastica | 1 test |
| Giant axonal neuropathy 1 | 1 test |
| Gilbert syndrome | 1 test |
| Glomuvenous malformation | 1 test |
| Glucose-6-phosphate transport defect | 1 test |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 2 tests |
| Glycine encephalopathy | 1 test |
| Glycogen storage disease | 1 test |
| Glycogen storage disease IIIa | 2 tests |
| Glycogen storage disease IIIb | 2 tests |
| Glycogen storage disease IXa1 | 1 test |
| Glycogen storage disease IXa2 | 1 test |
| Glycogen storage disease IXb | 1 test |
| Glycogen storage disease IXc | 1 test |
| Glycogen storage disease IXd | 1 test |
| Glycogen storage disease XV | 1 test |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 3 tests |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 1 test |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 1 test |
| Glycogen storage disease due to muscle beta-enolase deficiency | 1 test |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 3 tests |
| Glycogen storage disease type X | 1 test |
| Glycogen storage disease, type II | 3 tests |
| Glycogen storage disease, type IV | 1 test |
| Glycogen storage disease, type V | 1 test |
| Glycogen storage disease, type VI | 1 test |
| Glycogen storage disease, type VII | 3 tests |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 1 test |
| Gnathodiaphyseal dysplasia | 1 test |
| Gorlin syndrome | 1 test |
| Greenberg dysplasia | 2 tests |
| HNSHA due to aldolase A deficiency | 3 tests |
| HSD10 mitochondrial disease | 2 tests |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2 tests |
| Hb SS disease | 1 test |
| Heinz body anemia | 1 test |
| Hemochromatosis type 1 | 1 test |
| Hemoglobin Bart hydrops syndrome | 1 test |
| Hemoglobin H disease | 5 tests |
| Hemoglobin H disease, nondeletional | 1 test |
| Hemoglobinopathy | 2 tests |
| Hemolytic anemia | 2 tests |
| Hemolytic anemia due to adenylate kinase deficiency | 2 tests |
| Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | 2 tests |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 2 tests |
| Hemolytic anemia due to hexokinase deficiency | 2 tests |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 2 tests |
| Hemolytic disease of fetus OR newborn due to isoimmunization | 10 tests |
| Hemophilia | 1 test |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 test |
| Hepatic methionine adenosyltransferase deficiency | 1 test |
| Hereditary breast ovarian cancer syndrome | 4 tests |
| Hereditary cancer-predisposing syndrome | 3 tests |
| Hereditary diffuse gastric adenocarcinoma | 6 tests |
| Hereditary disease | 3 tests |
| Hereditary elliptocytosis | 2 tests |
| Hereditary factor VIII deficiency disease | 5 tests |
| Hereditary fructosuria | 1 test |
| Hereditary hemorrhagic telangiectasia | 2 tests |
| Hereditary insensitivity to pain with anhidrosis | 1 test |
| Hereditary intrinsic factor deficiency | 1 test |
| Hereditary leiomyomatosis and renal cell cancer | 2 tests |
| Hereditary liability to pressure palsies | 2 tests |
| Hereditary lymphedema type I | 1 test |
| Hereditary motor and sensory neuropathy | 1 test |
| Hereditary neutrophilia | 1 test |
| Hereditary nonpolyposis colon cancer | 4 tests |
| Hereditary persistence of fetal hemoglobin | 1 test |
| Hereditary pheochromocytoma and paraganglioma | 6 tests |
| Hereditary retinoblastoma | 1 test |
| Hereditary sensory and autonomic neuropathy type 1 | 1 test |
| Hereditary sensory and autonomic neuropathy type 2 | 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 spastic paraplegia 30 | 1 test |
| Hereditary spastic paraplegia 77 | 1 test |
| Hereditary spherocytosis | 2 tests |
| Hereditary von Willebrand disease | 1 test |
| Holoprosencephaly 11 | 2 tests |
| Holoprosencephaly 2 | 2 tests |
| Holoprosencephaly 3 | 2 tests |
| Holoprosencephaly 4 | 2 tests |
| Holoprosencephaly 5 | 2 tests |
| Holoprosencephaly 7 | 1 test |
| Holoprosencephaly 9 | 2 tests |
| Holoprosencephaly sequence | 1 test |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 test |
| Huntington disease | 2 tests |
| Hyper-IgM syndrome type 1 | 1 test |
| Hyper-IgM syndrome type 2 | 1 test |
| Hyper-IgM syndrome type 3 | 1 test |
| Hyper-IgM syndrome type 5 | 1 test |
| Hyperekplexia 1 | 1 test |
| Hyperimmunoglobulin D with periodic fever | 1 test |
| Hyperinsulinemic hypoglycemia, familial, 1 | 2 tests |
| Hyperlipoproteinemia | 1 test |
| Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 test |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 test |
| Hypertrophic cardiomyopathy | 1 test |
| Hypertrophic cardiomyopathy 1 | 2 tests |
| Hypertrophic cardiomyopathy 10 | 2 tests |
| Hypertrophic cardiomyopathy 11 | 2 tests |
| Hypertrophic cardiomyopathy 12 | 2 tests |
| Hypertrophic cardiomyopathy 13 | 2 tests |
| Hypertrophic cardiomyopathy 14 | 1 test |
| Hypertrophic cardiomyopathy 15 | 1 test |
| Hypertrophic cardiomyopathy 17 | 2 tests |
| Hypertrophic cardiomyopathy 18 | 2 tests |
| Hypertrophic cardiomyopathy 2 | 2 tests |
| Hypertrophic cardiomyopathy 20 | 1 test |
| Hypertrophic cardiomyopathy 25 | 1 test |
| Hypertrophic cardiomyopathy 3 | 2 tests |
| Hypertrophic cardiomyopathy 4 | 2 tests |
| Hypertrophic cardiomyopathy 6 | 3 tests |
| Hypertrophic cardiomyopathy 7 | 2 tests |
| Hypertrophic cardiomyopathy 8 | 2 tests |
| Hypertrophic cardiomyopathy 9 | 1 test |
| Hypochondrogenesis | 2 tests |
| Hypochondroplasia | 2 tests |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 2 tests |
| Hypomagnesemia, seizures, and intellectual disability 2 | 1 test |
| Hypophosphatasia | 3 tests |
| Hypophosphatemic rickets, X-linked recessive | 1 test |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 1 test |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 1 test |
| Hypotrichosis-lymphedema-telangiectasia syndrome | 1 test |
| Idiopathic and/or familial pulmonary arterial hypertension | 1 test |
| Imerslund-Grasbeck syndrome | 1 test |
| Imerslund-Grasbeck syndrome type 2 | 1 test |
| Immunodeficiency 104 | 1 test |
| Immunodeficiency 14 | 1 test |
| Immunodeficiency, common variable, 1 | 1 test |
| Immunodeficiency, common variable, 10 | 1 test |
| Immunodeficiency, common variable, 2 | 1 test |
| Immunodeficiency, common variable, 3 | 1 test |
| Immunodeficiency, common variable, 5 | 1 test |
| Immunodeficiency, common variable, 7 | 1 test |
| Immunoglobulin A deficiency 2 | 1 test |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 test |
| Infantile hypophosphatasia | 1 test |
| Intellectual disability | 2 tests |
| Intellectual disability, X-linked 1 | 1 test |
| Intellectual disability, X-linked 102 | 1 test |
| Intellectual disability, X-linked 49 | 1 test |
| Intellectual disability, X-linked, syndromic, Houge type | 1 test |
| Intellectual disability, autosomal dominant 1 | 1 test |
| Intellectual disability, autosomal dominant 15 | 1 test |
| Intellectual disability, autosomal dominant 16 | 1 test |
| Intellectual disability, autosomal dominant 42 | 1 test |
| Intellectual disability, autosomal dominant 5 | 1 test |
| Intellectual disability, autosomal dominant 56 | 1 test |
| Intellectual disability, autosomal recessive 53 | 1 test |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 1 test |
| Irinotecan response | 2 tests |
| Isolated ectopia lentis | 1 test |
| Isolated focal cortical dysplasia type II | 2 tests |
| Isovaleric acidemia, type I | 1 test |
| Jervell and Lange-Nielsen syndrome | 1 test |
| Jervell and Lange-Nielsen syndrome 2 | 1 test |
| Jeune thoracic dystrophy | 2 tests |
| Joubert syndrome | 1 test |
| Joubert syndrome 2 | 2 tests |
| Juvenile myelomonocytic leukemia | 1 test |
| Juvenile polyposis syndrome | 3 tests |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 4 tests |
| KBG syndrome | 1 test |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 test |
| Kleefstra syndrome 1 | 1 test |
| Kniest dysplasia | 2 tests |
| Koolen-de Vries syndrome | 1 test |
| Kostmann syndrome | 1 test |
| LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS | 1 test |
| Lafora disease | 1 test |
| Landau-Kleffner syndrome | 1 test |
| Larsen syndrome | 2 tests |
| Left ventricular noncompaction | 2 tests |
| Left ventricular noncompaction 10 | 1 test |
| Left ventricular noncompaction 4 | 1 test |
| Legius syndrome | 2 tests |
| Leri-Weill dyschondrosteosis | 1 test |
| Lethal Kniest-like syndrome | 2 tests |
| Lethal congenital glycogen storage disease of heart | 1 test |
| Li-Fraumeni syndrome | 13 tests |
| Lissencephaly due to LIS1 mutation | 1 test |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 test |
| Loeys-Dietz syndrome | 2 tests |
| Loeys-Dietz syndrome 1 | 1 test |
| Loeys-Dietz syndrome 2 | 1 test |
| Loeys-Dietz syndrome 4 | 1 test |
| Long QT syndrome | 2 tests |
| Long QT syndrome 1 | 1 test |
| Long QT syndrome 11 | 1 test |
| Long QT syndrome 12 | 1 test |
| Long QT syndrome 16 | 1 test |
| Long QT syndrome 2 | 1 test |
| Long QT syndrome 3 | 1 test |
| Long QT syndrome 5 | 1 test |
| Long QT syndrome 6 | 1 test |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 test |
| Lorazepam response | 2 tests |
| Lymphatic malformation 4 | 1 test |
| Lymphatic malformation 6 | 1 test |
| Lynch syndrome | 4 tests |
| Lynch syndrome 5 | 1 test |
| Lynch syndrome 8 | 3 tests |
| MASS syndrome | 1 test |
| METHEMOGLOBINEMIA, TYPE I | 2 tests |
| MOGS-congenital disorder of glycosylation | 1 test |
| MPDU1-congenital disorder of glycosylation | 1 test |
| MTHFR THERMOLABILE POLYMORPHISM | 2 tests |
| MYH7-related skeletal myopathy | 1 test |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
| Macular dystrophy with central cone involvement | 1 test |
| Majeed syndrome | 1 test |
| Malignant hyperthermia of anesthesia | 1 test |
| Maple syrup urine disease type 1B | 3 tests |
| Marfan syndrome | 2 tests |
| Maturity-onset diabetes of the young type 1 | 1 test |
| Maturity-onset diabetes of the young type 10 | 1 test |
| Maturity-onset diabetes of the young type 11 | 1 test |
| Maturity-onset diabetes of the young type 13 | 1 test |
| Maturity-onset diabetes of the young type 14 | 1 test |
| Maturity-onset diabetes of the young type 2 | 1 test |
| Maturity-onset diabetes of the young type 3 | 1 test |
| Maturity-onset diabetes of the young type 4 | 1 test |
| Maturity-onset diabetes of the young type 6 | 1 test |
| Maturity-onset diabetes of the young type 7 | 1 test |
| Maturity-onset diabetes of the young type 8 | 1 test |
| Maturity-onset diabetes of the young type 9 | 1 test |
| Medium chain 3-ketoacyl-Coa thiolase deficiency | 1 test |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 tests |
| Medulloblastoma | 1 test |
| Meester-Loeys syndrome | 1 test |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 test |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 test |
| Melanoma | 1 test |
| Melanoma and neural system tumor syndrome | 2 tests |
| Melanoma, cutaneous malignant, susceptibility to, 3 | 2 tests |
| Melanoma, cutaneous malignant, susceptibility to, 5 | 1 test |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 1 test |
| Metabolic myopathy due to lactate transporter defect | 1 test |
| Metaphyseal chondrodysplasia, McKusick type | 1 test |
| Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | 2 tests |
| Metatropic dysplasia | 2 tests |
| Methadone response | 1 test |
| Methylcobalamin deficiency type cblE | 1 test |
| Methylcobalamin deficiency type cblG | 1 test |
| Methylmalonic acidemia | 1 test |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 1 test |
| Methylmalonic acidemia due to transcobalamin receptor defect | 1 test |
| Methylmalonic acidemia with homocystinuria, type cblJ | 1 test |
| Methylmalonic aciduria and homocystinuria type cblD | 1 test |
| Methylmalonic aciduria and homocystinuria type cblF | 1 test |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 1 test |
| Methylmalonic aciduria, cblA type | 1 test |
| Methylmalonic aciduria, cblB type | 1 test |
| Microcephaly, normal intelligence and immunodeficiency | 2 tests |
| Microcephaly, seizures, and developmental delay | 1 test |
| Microcephaly-capillary malformation syndrome | 1 test |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 test |
| Mild hemophilia A | 1 test |
| Mismatch repair cancer syndrome 1 | 1 test |
| Mitchell syndrome | 1 test |
| Mitochondrial DNA depletion syndrome 9 | 1 test |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 test |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 1 test |
| Mitochondrial trifunctional protein deficiency | 1 test |
| Moderately severe hemophilia A | 1 test |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 1 test |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 1 test |
| Morphine response | 1 test |
| Mowat-Wilson syndrome | 1 test |
| Mucolipidosis type IV | 2 tests |
| Muir-Torré syndrome | 1 test |
| Multiple acyl-CoA dehydrogenase deficiency | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 1 test |
| Multiple cutaneous and mucosal venous malformations | 1 test |
| Multiple endocrine neoplasia type 4 | 1 test |
| Multiple endocrine neoplasia, type 1 | 7 tests |
| Multiple endocrine neoplasia, type 2 | 1 test |
| Muscular dystrophy, congenital, with or without seizures | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 test |
| Myelodysplastic syndrome | 2 tests |
| Myocardial infarction, susceptibility to, 1 | 1 test |
| Myoclonic epilepsy of Lafora 2 | 1 test |
| Myofibrillar myopathy 4 | 1 test |
| Myopathy with abnormal lipid metabolism | 1 test |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 test |
| Myotonic dystrophy | 1 test |
| NAFLD1 | 1 test |
| NDE1-related microhydranencephaly | 1 test |
| Narcolepsy 1 | 1 test |
| Naxos disease | 1 test |
| Nemaline myopathy 2 | 2 tests |
| Neonatal alloimmune thrombocytopenia | 2 tests |
| Neonatal diabetes mellitus | 1 test |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 test |
| Nephronophthisis | 1 test |
| Neu-Laxova syndrome 1 | 1 test |
| Neuroblastoma | 1 test |
| Neuroblastoma, susceptibility to, 3 | 1 test |
| Neurodegeneration with brain iron accumulation 5 | 1 test |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 1 test |
| Neurodevelopmental disorder with epilepsy and hemochromatosis | 1 test |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 test |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 1 test |
| Neurofibromatosis, type 1 | 4 tests |
| Neurofibromatosis, type 2 | 2 tests |
| Neuromuscular disease caused by qualitative or quantitative defects of dystrophin | 4 tests |
| Neuronal ceroid lipofuscinosis 1 | 1 test |
| Neuronal ceroid lipofuscinosis 10 | 1 test |
| Neuronal ceroid lipofuscinosis 13 | 1 test |
| Neuronal ceroid lipofuscinosis 3 | 1 test |
| Neuronal ceroid lipofuscinosis 5 | 1 test |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 1 test |
| Neuropathy, hereditary sensory, type 1D | 1 test |
| Neutropenia, severe congenital, 1, autosomal dominant | 1 test |
| Neutropenia, severe congenital, 2, autosomal dominant | 1 test |
| Nevirapine response | 1 test |
| Niemann-Pick disease, type A | 2 tests |
| Non-syndromic X-linked intellectual disability | 1 test |
| Noonan syndrome | 2 tests |
| Noonan syndrome 10 | 1 test |
| Noonan syndrome with multiple lentigines | 1 test |
| Noonan syndrome-like disorder with loose anagen hair | 1 test |
| OSTEOGENESIS IMPERFECTA, TYPE IIC | 1 test |
| Optic atrophy | 1 test |
| Osteogenesis imperfecta | 3 tests |
| Osteogenesis imperfecta type 1, mild | 1 test |
| 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 | 1 test |
| 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 |
| Osteoglophonic dysplasia | 2 tests |
| Osteoporosis with pseudoglioma | 1 test |
| PCWH syndrome | 1 test |
| PGM1-congenital disorder of glycosylation | 1 test |
| PMM2-congenital disorder of glycosylation | 1 test |
| PTEN hamartoma tumor syndrome | 9 tests |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 test |
| Pallister-Hall syndrome | 1 test |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 test |
| Pancytopenia due to IKZF1 mutations | 1 test |
| Pancytopenia-developmental delay syndrome | 1 test |
| Parastremmatic dwarfism | 2 tests |
| Parkes Weber syndrome | 2 tests |
| Patterned macular dystrophy 2 | 1 test |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 test |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 test |
| Periventricular nodular heterotopia 7 | 1 test |
| Peroxisome biogenesis disorder | 1 test |
| Peroxisome biogenesis disorder 10A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 test |
| Perrault syndrome | 1 test |
| Perry syndrome | 1 test |
| Peutz-Jeghers syndrome | 5 tests |
| Pheochromocytoma | 2 tests |
| Pheochromocytoma/paraganglioma syndrome 1 | 1 test |
| Pheochromocytoma/paraganglioma syndrome 2 | 1 test |
| Pheochromocytoma/paraganglioma syndrome 3 | 1 test |
| Pheochromocytoma/paraganglioma syndrome 4 | 1 test |
| Pheochromocytoma/paraganglioma syndrome 5 | 1 test |
| Phytanic acid storage disease | 1 test |
| Pierpont syndrome | 1 test |
| Platyspondylic dysplasia, Torrance type | 2 tests |
| Pleuropulmonary blastoma | 2 tests |
| Poikiloderma with neutropenia | 1 test |
| Polyglucosan body myopathy | 1 test |
| Polyglucosan body myopathy type 1 | 1 test |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 1 test |
| Pontocerebellar hypoplasia type 2A | 1 test |
| Prader-Willi syndrome | 2 tests |
| Primary ciliary dyskinesia | 2 tests |
| Primary dilated cardiomyopathy | 2 tests |
| Primary familial hypertrophic cardiomyopathy | 2 tests |
| Primary familial polycythemia due to EPO receptor mutation | 1 test |
| Primary hyperoxaluria | 1 test |
| Primary intraosseous venous malformation | 1 test |
| Primary pulmonary hypertension | 2 tests |
| Primary pulmonary hypoplasia | 1 test |
| Prion disease | 1 test |
| Progressive familial heart block, type 1A | 1 test |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 test |
| Progressive myoclonic epilepsy type 3 | 1 test |
| Progressive myoclonic epilepsy type 7 | 1 test |
| Propionic acidemia | 1 test |
| Prostate cancer, hereditary, 9 | 1 test |
| Proteus syndrome | 2 tests |
| Proteus-like syndrome | 1 test |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2 tests |
| Pseudohypoaldosteronism type 2D | 1 test |
| Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | 1 test |
| Pulmonary hypertension, primary, 2 | 2 tests |
| Pulmonary hypertension, primary, 3 | 1 test |
| Pulmonary hypertension, primary, 4 | 2 tests |
| Pulmonary venoocclusive disease | 1 test |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 test |
| Pyridoxal phosphate-responsive seizures | 1 test |
| Pyridoxine-dependent epilepsy | 1 test |
| Pyropoikilocytosis, hereditary | 2 tests |
| Pyruvate dehydrogenase E3 deficiency | 3 tests |
| Pyruvate kinase deficiency of red cells | 2 tests |
| Quetiapine response | 2 tests |
| RASopathy | 1 test |
| RFT1-congenital disorder of glycosylation | 1 test |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 1 test |
| Renal carnitine transport defect | 1 test |
| Renal cell carcinoma | 2 tests |
| Retinal dystrophy with leukodystrophy | 1 test |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 1 test |
| Retinitis pigmentosa with or without situs inversus | 1 test |
| Retinoblastoma | 3 tests |
| Rhabdoid tumor predisposition syndrome 1 | 1 test |
| Rhizomelic chondrodysplasia punctata | 3 tests |
| Rhizomelic chondrodysplasia punctata type 1 | 1 test |
| Rhizomelic chondrodysplasia punctata type 2 | 1 test |
| Rhizomelic chondrodysplasia punctata type 3 | 1 test |
| Rhizomelic chondrodysplasia punctata type 5 | 1 test |
| Risperidone response | 2 tests |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 test |
| Rotor syndrome | 2 tests |
| Russell-Silver syndrome | 1 test |
| SHOX-related short stature | 1 test |
| SLC35A2-congenital disorder of glycosylation | 1 test |
| SUDDEN INFANT DEATH SYNDROME | 1 test |
| Schinzel-Giedion syndrome | 1 test |
| Schizophrenia | 1 test |
| Schneckenbecken dysplasia | 2 tests |
| Schuurs-Hoeijmakers syndrome | 1 test |
| Schwartz-Jampel syndrome | 2 tests |
| Seizures, benign familial infantile, 2 | 1 test |
| Seizures, benign familial infantile, 3 | 1 test |
| Seizures, benign familial neonatal, 2 | 1 test |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 test |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 test |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 1 test |
| Severe hemophilia A | 1 test |
| Short QT syndrome | 2 tests |
| Short QT syndrome type 1 | 1 test |
| Short QT syndrome type 2 | 1 test |
| Short QT syndrome type 3 | 1 test |
| Short stature due to partial GHR deficiency | 1 test |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 2 tests |
| Shprintzen-Goldberg syndrome | 2 tests |
| Sialidosis type 2 | 1 test |
| Sick sinus syndrome 1 | 1 test |
| Sick sinus syndrome 2, autosomal dominant | 1 test |
| Silver-Russell syndrome due to an imprinting defect of 11p15 | 1 test |
| Skeletal dysplasia | 2 tests |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 1 test |
| Spermatogenic failure, Y-linked, 2 | 1 test |
| Spinal muscular atrophy | 4 tests |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 test |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy | 1 test |
| Spondylocarpotarsal synostosis syndrome | 2 tests |
| Spondylocostal dysostosis | 2 tests |
| Spondyloepiphyseal dysplasia | 2 tests |
| Spondyloepiphyseal dysplasia with metatarsal shortening | 2 tests |
| Spondyloperipheral dysplasia | 2 tests |
| Spongy degeneration of central nervous system | 2 tests |
| Statin-induced myopathy | 1 test |
| Steinert myotonic dystrophy syndrome | 1 test |
| Sterol carrier protein 2 deficiency | 1 test |
| Stevens-Johnson syndrome | 1 test |
| Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome | 1 test |
| Stickler syndrome | 1 test |
| Stickler syndrome type 1 | 1 test |
| Stickler syndrome type 2 | 1 test |
| Stickler syndrome, type 4 | 1 test |
| Stickler syndrome, type 5 | 1 test |
| Stiff skin syndrome | 1 test |
| Stuve-Wiedemann syndrome | 2 tests |
| Succinate-semialdehyde dehydrogenase deficiency | 1 test |
| Succinyl-CoA acetoacetate transferase deficiency | 1 test |
| Sulfite oxidase deficiency | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 | 1 test |
| Syndromic X-linked intellectual disability 94 | 1 test |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 test |
| Syndromic X-linked intellectual disability Snyder type | 1 test |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 test |
| Tay-Sachs disease | 4 tests |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 test |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 test |
| Telangiectasia, hereditary hemorrhagic, type 5 | 2 tests |
| Temple-Baraitser syndrome | 1 test |
| Temtamy syndrome | 1 test |
| Terminal osseous dysplasia-pigmentary defects syndrome | 2 tests |
| Thanatophoric dysplasia type 1 | 2 tests |
| Thanatophoric dysplasia, type 2 | 2 tests |
| Thiopurine response | 3 tests |
| Thrombocytopenia 1 | 1 test |
| Thrombocytopenia 2 | 1 test |
| Thrombophilia | 3 tests |
| Thrombophilia due to activated protein C resistance | 1 test |
| Thrombophilia due to factor V Leiden | 2 tests |
| Thrombophilia due to thrombin defect | 2 tests |
| Thrombophilia, familial, due to decreased release of tissue plasminogen activator | 1 test |
| Timothy syndrome | 1 test |
| Transcobalamin II deficiency | 1 test |
| Transcription level of plasminogen activator inhibitor 1 | 1 test |
| Triosephosphate isomerase deficiency | 2 tests |
| Tuberous sclerosis 1 | 5 tests |
| Tuberous sclerosis 2 | 5 tests |
| Tuberous sclerosis syndrome | 3 tests |
| Tumor predisposition syndrome 2 | 1 test |
| Tumor predisposition syndrome 3 | 2 tests |
| Twinning, monozygotic | 1 test |
| Type 2 collagenopathy | 2 tests |
| Unverricht-Lundborg syndrome | 1 test |
| Usher syndrome type 1F | 2 tests |
| Usher syndrome type 3 | 2 tests |
| VPS13A-related neurodegenerative disease | 1 test |
| Van Maldergem syndrome 2 | 1 test |
| Very long chain acyl-CoA dehydrogenase deficiency | 2 tests |
| Visceral heterotaxy | 1 test |
| Vitamin D-dependent rickets, type 1A | 1 test |
| Von Hippel-Lindau syndrome | 3 tests |
| WHIM syndrome 1 | 1 test |
| Wagner disease | 1 test |
| Warfarin response | 1 test |
| Weill-Marchesani syndrome 2, dominant | 1 test |
| Wilson disease | 1 test |
| Wolff-Parkinson-White pattern | 2 tests |
| X-linked Emery-Dreifuss muscular dystrophy | 1 test |
| X-linked agammaglobulinemia | 1 test |
| X-linked distal spinal muscular atrophy type 3 | 1 test |
| X-linked erythropoietic protoporphyria | 1 test |
| X-linked intellectual disability Cabezas type | 1 test |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 test |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 test |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 test |
| Xerocytosis | 2 tests |
| Zellweger spectrum disorders | 1 test |
| alpha Thalassemia | 4 tests |
| beta Thalassemia | 4 tests |
| chronic recurrent pancreatitis | 1 test |