Genetic Services Laboratory (University of Chicago)
General information
Genetic Services Laboratory
University of Chicago
5841 S. Maryland Ave. Rm G701, MC0077
Chicago
Illinois
United States - 60637-6726
http://dnatesting.uchicago.edu/
Organization ID: 1238
University of Chicago
5841 S. Maryland Ave. Rm G701, MC0077
Chicago
Illinois
United States - 60637-6726
http://dnatesting.uchicago.edu/
Organization ID: 1238
Personnel
- Scott Dent, Genetic Counselor
Phone: 773-834-0555
Email: ucglabs@bsd.uchicago.edu - Paul Lurix, Informatics staff
Phone: 832-752-1122
Email: plurix@bsd.uchicago.edu - Sanjukta Tawde, Genetic Counselor
Phone: 773-834-5812
Email: ucglabs@bsd.uchicago.edu - Malia Triebold, Genetic Counselor
Phone: 773-834-2795
Email: ucglabs@bsd.uchicago.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 25188
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 1 | Jul 5, 2017 |
| AAAS | 5 | Jan 24, 2022 |
| AARS2 | 3 | Oct 9, 2025 |
| ABCA1 | 1 | Jan 25, 2022 |
| ABCA13 | 1 | Sep 15, 2015 |
| ABCB11 | 2 | Jul 5, 2017 |
| ABCB7 | 1 | Jan 23, 2022 |
| ABCC6 | 2 | Jul 5, 2017 |
| ABCC8 | 207 | Oct 9, 2025 |
| ABCC9 | 1 | Jul 5, 2017 |
| ABCD1 | 2 | Jul 5, 2017 |
| ABCD4 | 1 | Jan 24, 2022 |
| ABCG5 | 14 | Mar 9, 2023 |
| ABCG8 | 13 | Mar 9, 2023 |
| ABHD12 | 3 | Jun 27, 2014 |
| ABHD14A-ACY1 | 1 | Jan 24, 2022 |
| ACADS | 1 | Jan 24, 2022 |
| ACADVL | 1 | Jul 5, 2017 |
| ACD | 33 | Oct 9, 2025 |
| ACO2 | 2 | Jun 27, 2014 |
| ACOX1 | 1 | Jan 24, 2022 |
| ACSF3 | 1 | Jan 24, 2022 |
| ACSL4 | 12 | Jan 25, 2022 |
| ACTA1 | 10 | Jan 25, 2022 |
| ACTB | 9 | Jan 25, 2022 |
| ACTC1 | 1 | Jan 24, 2022 |
| ACTG1 | 33 | Jan 25, 2022 |
| ACTL6B | 2 | Jan 24, 2022 |
| ACTN1 | 6 | Jan 25, 2022 |
| ACTN4 | 7 | Oct 9, 2025 |
| ACVRL1 | 3 | Jan 25, 2022 |
| ACY1 | 1 | Jan 24, 2022 |
| ADA | 10 | Oct 9, 2025 |
| ADA2 | 11 | Oct 9, 2025 |
| ADAMTS13 | 13 | Oct 9, 2025 |
| ADAR | 2 | Oct 9, 2025 |
| ADAT3 | 15 | Jan 25, 2022 |
| ADCY10 | 1 | Jan 25, 2022 |
| ADCY3 | 3 | Jan 25, 2022 |
| ADCY5 | 1 | Oct 9, 2025 |
| ADGRG1 | 50 | Jan 25, 2022 |
| ADGRV1 | 91 | Jul 5, 2017 |
| ADNP | 15 | Jan 25, 2022 |
| ADRA2A | 3 | Jan 25, 2022 |
| ADSL | 9 | Oct 9, 2025 |
| AFF2 | 29 | Jan 25, 2022 |
| AFF4 | 8 | Jan 25, 2022 |
| AFG2A | 9 | Jan 25, 2022 |
| AFG3L2 | 3 | Sep 15, 2015 |
| AGMO | 8 | Jan 25, 2022 |
| AGO1 | 1 | Jan 24, 2022 |
| AGPAT2 | 11 | Jan 25, 2022 |
| AGPS | 4 | Sep 11, 2014 |
| AGRN | 52 | Jan 25, 2022 |
| AGTR2 | 1 | Apr 30, 2014 |
| AHDC1 | 6 | Jan 25, 2022 |
| AHI1 | 22 | Oct 9, 2025 |
| AIP | 3 | Oct 9, 2025 |
| AIRE | 28 | Jan 25, 2022 |
| AKR1C2 | 3 | Jan 25, 2022 |
| AKT1 | 1 | Jul 5, 2017 |
| AKT2 | 15 | Oct 9, 2025 |
| AKT3 | 1 | Jan 25, 2022 |
| ALAS2 | 21 | Mar 9, 2023 |
| ALDH5A1 | 16 | Jan 25, 2022 |
| ALDH7A1 | 10 | Mar 6, 2020 |
| ALDOB | 1 | Jan 24, 2022 |
| ALG12 | 1 | Jan 24, 2022 |
| ALG13 | 5 | Jan 25, 2022 |
| ALG14 | 3 | Jan 25, 2022 |
| ALG6 | 22 | Jan 25, 2022 |
| ALG8 | 3 | Oct 9, 2025 |
| ALG9 | 5 | Mar 9, 2023 |
| ALK | 18 | Oct 9, 2025 |
| ALMS1 | 73 | Oct 9, 2025 |
| ALPL | 5 | Jan 25, 2022 |
| ALS2 | 1 | Oct 9, 2025 |
| ALX1 | 2 | Jul 5, 2017 |
| ALX3 | 1 | Sep 15, 2015 |
| ALX4 | 2 | Mar 9, 2023 |
| AMACR | 7 | Oct 9, 2025 |
| AMH | 8 | Oct 9, 2025 |
| AMHR2 | 6 | Jan 25, 2022 |
| AMPD2 | 3 | Jul 5, 2017 |
| ANGPT2 | 9 | Jul 5, 2017 |
| ANK1 | 1 | Oct 9, 2025 |
| ANK3 | 146 | Jan 25, 2022 |
| ANKLE2 | 1 | Mar 9, 2023 |
| ANKRD11 | 30 | Mar 9, 2023 |
| ANKRD26 | 108 | Oct 9, 2025 |
| ANKS6 | 3 | Oct 9, 2025 |
| ANLN | 2 | Mar 9, 2023 |
| ANO10 | 11 | Dec 5, 2022 |
| ANO5 | 10 | Jan 25, 2022 |
| ANOS1 | 1 | Jul 5, 2017 |
| AOPEP | 36 | Oct 9, 2025 |
| AP1S2 | 4 | Jul 5, 2017 |
| AP2S1 | 2 | Jan 25, 2022 |
| AP3B1 | 19 | Jan 25, 2022 |
| AP3D1 | 3 | Jan 25, 2022 |
| AP4B1 | 37 | Jan 25, 2022 |
| AP4B1-AS1 | 27 | Jan 25, 2022 |
| AP4E1 | 42 | Jan 25, 2022 |
| AP4M1 | 27 | Jan 25, 2022 |
| AP4S1 | 11 | Jan 25, 2022 |
| AP5Z1 | 9 | Sep 15, 2015 |
| APBA2 | 1 | Jul 5, 2017 |
| APBB1 | 1 | Oct 9, 2025 |
| APC | 70 | Oct 9, 2025 |
| APOA1 | 6 | Oct 9, 2025 |
| APOA1-AS | 5 | Oct 9, 2025 |
| APOA2 | 4 | Mar 9, 2023 |
| APOA5 | 1 | Jan 25, 2022 |
| APOB | 20 | Jan 25, 2022 |
| APOE | 1 | Jan 25, 2022 |
| APOL1 | 4 | Oct 9, 2025 |
| APPL1 | 9 | Mar 9, 2023 |
| APTX | 2 | Jul 5, 2017 |
| AR | 41 | Oct 9, 2025 |
| ARFGEF1 | 2 | Jul 5, 2017 |
| ARFGEF1-DT | 4 | Jan 23, 2022 |
| ARFGEF2 | 91 | Jan 25, 2022 |
| ARHGAP6 | 1 | Apr 30, 2014 |
| ARHGEF15 | 3 | Jul 5, 2017 |
| ARHGEF6 | 16 | Jan 25, 2022 |
| ARHGEF9 | 10 | Jan 25, 2022 |
| ARID1A | 89 | Oct 9, 2025 |
| ARID1B | 148 | Jan 25, 2022 |
| ARL13B | 6 | Mar 9, 2023 |
| ARL14EP-DT | 1 | Jan 25, 2022 |
| ARNT2 | 1 | Oct 9, 2025 |
| ARSA | 5 | Oct 9, 2025 |
| ARSL | 14 | Oct 9, 2025 |
| ARV1 | 1 | Jan 25, 2022 |
| ARX | 67 | Jan 25, 2022 |
| ASB14 | 2 | Jan 25, 2022 |
| ASIC4-AS1 | 2 | Jan 25, 2022 |
| ASL | 4 | Jan 24, 2022 |
| ASNS | 7 | Jan 25, 2022 |
| ASPA | 1 | Jan 24, 2022 |
| ASPM | 266 | Oct 9, 2025 |
| ASS1 | 3 | Jul 5, 2017 |
| ASTN2 | 5 | Mar 9, 2023 |
| ASXL2 | 3 | Jan 25, 2022 |
| ASXL3 | 41 | Mar 9, 2023 |
| ATAD3A | 1 | Jan 23, 2022 |
| ATCAY | 2 | Jan 25, 2022 |
| ATG2B | 25 | Oct 9, 2025 |
| ATL1 | 2 | Jun 27, 2014 |
| ATM | 236 | Oct 9, 2025 |
| ATN1 | 8 | Mar 6, 2020 |
| ATP13A2 | 21 | Jan 25, 2022 |
| ATP1A2 | 12 | Jan 24, 2022 |
| ATP1A3 | 14 | Jan 24, 2022 |
| ATP2B3 | 1 | Jan 23, 2022 |
| ATP6AP2 | 4 | Jun 27, 2014 |
| ATP6V0A2 | 7 | Jan 25, 2022 |
| ATP6V0A4 | 1 | Mar 9, 2023 |
| ATP6V1B1 | 1 | Oct 9, 2025 |
| ATP7A | 105 | Jul 5, 2017 |
| ATP7B | 79 | Oct 9, 2025 |
| ATP8A2 | 4 | Sep 15, 2015 |
| ATR | 84 | Jan 25, 2022 |
| ATRIP | 1 | Oct 9, 2025 |
| ATRIP-TREX1 | 1 | Oct 9, 2025 |
| ATRX | 56 | Mar 9, 2023 |
| ATXN1 | 15 | Sep 15, 2015 |
| ATXN2 | 5 | Sep 15, 2015 |
| ATXN3 | 9 | Sep 15, 2015 |
| ATXN7 | 4 | Jun 27, 2014 |
| AUH | 1 | Jun 27, 2014 |
| AXDND1 | 2 | Oct 9, 2025 |
| AXIN1 | 3 | Mar 9, 2023 |
| AXIN2 | 12 | Mar 9, 2023 |
| B3GALNT2 | 6 | Jan 25, 2022 |
| B3GLCT | 5 | Jan 25, 2022 |
| B4GALNT1 | 1 | Jan 25, 2022 |
| B4GAT1 | 3 | Jan 25, 2022 |
| B9D1 | 3 | Oct 9, 2025 |
| B9D2 | 1 | Jul 5, 2017 |
| BAP1 | 33 | Oct 9, 2025 |
| BARD1 | 27 | Oct 9, 2025 |
| BBS1 | 25 | Oct 9, 2025 |
| BBS10 | 18 | Oct 9, 2025 |
| BBS12 | 19 | Oct 9, 2025 |
| BBS2 | 6 | Oct 9, 2025 |
| BBS4 | 6 | Jan 25, 2022 |
| BBS5 | 9 | Jan 25, 2022 |
| BBS7 | 9 | Mar 9, 2023 |
| BBS9 | 23 | Mar 9, 2023 |
| BCKDHA | 6 | Jan 24, 2022 |
| BCKDHB | 2 | Jan 24, 2022 |
| BCKDK | 6 | Jul 5, 2017 |
| BCOR | 33 | Jan 25, 2022 |
| BICD2 | 4 | Jan 25, 2022 |
| BIN1 | 20 | Sep 15, 2015 |
| BIVM-ERCC5 | 7 | Jan 24, 2022 |
| BLK | 21 | Mar 9, 2023 |
| BLK-AS1 | 9 | Jan 25, 2022 |
| BLM | 90 | Oct 9, 2025 |
| BLOC1S3 | 7 | Jan 25, 2022 |
| BLOC1S6 | 1 | Jul 5, 2017 |
| BLTP1 | 1 | Jan 25, 2022 |
| BMP4 | 2 | Jan 25, 2022 |
| BMPR1A | 12 | Jan 25, 2022 |
| BRAF | 2 | Jan 25, 2022 |
| BRAT1 | 10 | Oct 9, 2025 |
| BRCA1 | 179 | Oct 9, 2025 |
| BRCA2 | 277 | Oct 9, 2025 |
| BRD4 | 1 | Mar 9, 2023 |
| BRIP1 | 68 | Oct 9, 2025 |
| BRPF1 | 1 | Jan 24, 2022 |
| BRWD3 | 18 | Jan 25, 2022 |
| BSCL2 | 9 | Jan 25, 2022 |
| BSND | 2 | Oct 9, 2025 |
| BTD | 9 | Oct 9, 2025 |
| BTK | 3 | Mar 9, 2023 |
| BUB1B | 3 | Jan 25, 2022 |
| C10orf105 | 1 | Jan 24, 2022 |
| C11orf65 | 88 | Oct 9, 2025 |
| C12orf43 | 1 | Mar 6, 2020 |
| C12orf57 | 11 | Jan 25, 2022 |
| C17orf107 | 7 | Jan 25, 2022 |
| C19orf12 | 8 | Oct 9, 2025 |
| C1QTNF3-AMACR | 7 | Oct 9, 2025 |
| C2 | 3 | Jan 25, 2022 |
| C3 | 22 | Mar 9, 2023 |
| CA8 | 8 | Jan 25, 2022 |
| CACNA1A | 50 | Oct 9, 2025 |
| CACNA1D | 32 | Mar 9, 2023 |
| CACNA1G | 1 | Jul 5, 2017 |
| CACNA1S | 1 | Oct 9, 2025 |
| CACNA2D2 | 3 | Jan 25, 2022 |
| CACNB4 | 6 | Mar 6, 2020 |
| CACNG2 | 2 | Jul 5, 2017 |
| CACNG2-DT | 1 | Oct 9, 2025 |
| CAMTA1 | 6 | Jul 5, 2017 |
| CANT1 | 1 | Oct 9, 2025 |
| CAPN1 | 2 | Jan 25, 2022 |
| CAPN3 | 20 | Jan 25, 2022 |
| CARD11 | 27 | Oct 9, 2025 |
| CARD11-AS1 | 2 | Jan 25, 2022 |
| CASD1 | 1 | Jul 5, 2017 |
| CASK | 48 | Mar 9, 2023 |
| CASP10 | 6 | Mar 9, 2023 |
| CASR | 16 | Oct 9, 2025 |
| CAST | 11 | Jan 25, 2022 |
| CAV1 | 2 | Jun 27, 2014 |
| CAV3 | 5 | Jun 27, 2014 |
| CAVIN1 | 4 | Jul 5, 2017 |
| CBL | 51 | Oct 9, 2025 |
| CBR4 | 1 | Sep 15, 2015 |
| CC2D1A | 56 | Jan 25, 2022 |
| CC2D2A | 42 | Mar 9, 2023 |
| CCDC22 | 21 | Dec 5, 2022 |
| CCDC40 | 1 | Apr 30, 2014 |
| CCDC78 | 8 | Oct 4, 2017 |
| CCDC8 | 1 | Jan 25, 2022 |
| CCDC88A | 1 | Mar 9, 2023 |
| CCDC88C | 39 | Jan 25, 2022 |
| CCDST | 1 | Oct 9, 2025 |
| CCND2 | 1 | Jan 25, 2022 |
| CCNF | 1 | Mar 6, 2020 |
| CD27 | 4 | Mar 9, 2023 |
| CD27-AS1 | 4 | Mar 9, 2023 |
| CD2AP | 1 | Oct 9, 2025 |
| CD40LG | 1 | Mar 9, 2023 |
| CD46 | 4 | Mar 9, 2023 |
| CD70 | 3 | Oct 9, 2025 |
| CDC6 | 11 | Jul 5, 2017 |
| CDC73 | 5 | Jan 25, 2022 |
| CDH1 | 39 | Oct 9, 2025 |
| CDH15 | 52 | Jan 25, 2022 |
| CDH23 | 2 | Jan 24, 2022 |
| CDK13 | 1 | Oct 9, 2025 |
| CDK4 | 6 | Jan 25, 2022 |
| CDK5 | 2 | Jul 5, 2017 |
| CDK5RAP2 | 94 | Mar 9, 2023 |
| CDK6 | 6 | Mar 9, 2023 |
| CDKL5 | 64 | Jan 25, 2022 |
| CDKN1B | 4 | Jan 25, 2022 |
| CDKN1C | 17 | Mar 9, 2023 |
| CDKN2A | 9 | Oct 9, 2025 |
| CDT1 | 50 | Jan 25, 2022 |
| CEBPA | 31 | Mar 9, 2023 |
| CEL | 27 | Mar 9, 2023 |
| CENPE | 24 | Jan 25, 2022 |
| CENPF | 38 | Oct 9, 2025 |
| CEP104 | 2 | Oct 9, 2025 |
| CEP120 | 7 | Mar 9, 2023 |
| CEP135 | 42 | Jan 25, 2022 |
| CEP152 | 98 | Jan 25, 2022 |
| CEP164 | 5 | Oct 9, 2025 |
| CEP290 | 80 | Oct 9, 2025 |
| CEP41 | 3 | Mar 9, 2023 |
| CEP63 | 31 | Oct 9, 2025 |
| CEP83 | 1 | Jan 25, 2022 |
| CFB | 4 | Jan 25, 2022 |
| CFH | 5 | Oct 9, 2025 |
| CFHR1 | 4 | Jan 25, 2022 |
| CFHR3 | 2 | Jan 25, 2022 |
| CFHR4 | 11 | Jan 25, 2022 |
| CFHR5 | 9 | Jan 25, 2022 |
| CFI | 10 | Oct 9, 2025 |
| CFL2 | 2 | Sep 15, 2015 |
| CFTR | 10 | Oct 9, 2025 |
| CFTR-AS1 | 2 | Jul 5, 2017 |
| CFTR-AS2 | 3 | Oct 9, 2025 |
| CHAMP1 | 1 | Jul 5, 2017 |
| CHAT | 17 | Jul 5, 2017 |
| CHD2 | 9 | Jan 25, 2022 |
| CHD4 | 4 | Mar 9, 2023 |
| CHD4-AS1 | 1 | Jan 25, 2022 |
| CHD7 | 125 | Mar 9, 2023 |
| CHD8 | 2 | Jan 25, 2022 |
| CHEK2 | 64 | Oct 9, 2025 |
| CHKB | 4 | Jan 25, 2022 |
| CHKB-CPT1B | 4 | Jan 25, 2022 |
| CHMP1A | 5 | Jul 5, 2017 |
| CHMP2B | 1 | Jan 23, 2022 |
| CHRNA1 | 4 | Jan 25, 2022 |
| CHRNA2 | 7 | Jun 27, 2014 |
| CHRNA4 | 13 | Jun 27, 2014 |
| CHRNB1 | 4 | Jun 27, 2014 |
| CHRNB2 | 4 | Oct 4, 2017 |
| CHRND | 11 | Jan 25, 2022 |
| CHRNE | 14 | Jan 25, 2022 |
| CHST14 | 3 | Jul 5, 2017 |
| CIC | 3 | Jan 25, 2022 |
| CIDEC | 10 | Jan 25, 2022 |
| CIT | 21 | Jan 25, 2022 |
| CITED2 | 1 | Jan 23, 2022 |
| CKAP2L | 1 | Mar 9, 2023 |
| CLASP1 | 2 | Jan 25, 2022 |
| CLASP1-AS1 | 2 | Jan 25, 2022 |
| CLCC1 | 4 | Jan 25, 2022 |
| CLCN1 | 1 | Jan 23, 2022 |
| CLCN4 | 8 | Jan 25, 2022 |
| CLCNKB | 3 | Oct 9, 2025 |
| CLDN16 | 1 | Oct 9, 2025 |
| CLIC2 | 1 | Jul 5, 2017 |
| CLIP1 | 26 | Jan 25, 2022 |
| CLN3 | 6 | Jul 5, 2017 |
| CLN5 | 13 | Jan 23, 2022 |
| CLN6 | 8 | Jul 5, 2017 |
| CLN8 | 6 | Jul 5, 2017 |
| CLPB | 2 | Oct 9, 2025 |
| CLRN1 | 1 | Sep 15, 2015 |
| CNKSR2 | 2 | Jan 25, 2022 |
| CNNM4 | 1 | Jul 5, 2017 |
| CNOT1 | 1 | Jan 25, 2022 |
| CNTN1 | 14 | Jul 5, 2017 |
| CNTNAP2 | 78 | Dec 5, 2022 |
| COA7 | 1 | Jan 24, 2022 |
| COASY | 1 | Jan 24, 2022 |
| COG4 | 3 | Jun 27, 2014 |
| COG8 | 1 | Jan 24, 2022 |
| COL11A2 | 1 | Jul 5, 2017 |
| COL12A1 | 2 | Jan 25, 2022 |
| COL13A1 | 2 | Jan 25, 2022 |
| COL18A1 | 20 | Jan 25, 2022 |
| COL3A1 | 3 | Jan 25, 2022 |
| COL4A1 | 3 | Jan 24, 2022 |
| COL4A2 | 1 | Jan 24, 2022 |
| COL4A3 | 8 | Oct 9, 2025 |
| COL4A4 | 6 | Oct 9, 2025 |
| COL4A5 | 2 | Oct 9, 2025 |
| COL5A1 | 1 | Jul 5, 2017 |
| COL6A1 | 37 | Jan 25, 2022 |
| COL6A2 | 32 | Mar 9, 2023 |
| COL6A3 | 65 | Jan 25, 2022 |
| COLQ | 5 | Jul 5, 2017 |
| COQ2 | 4 | Mar 9, 2023 |
| COQ4 | 1 | Jun 27, 2014 |
| COQ6 | 4 | Jul 5, 2017 |
| COQ8A | 16 | Jan 24, 2022 |
| COQ8B | 6 | Mar 9, 2023 |
| COX15 | 2 | Oct 9, 2025 |
| CP | 22 | Jan 25, 2022 |
| CPA6 | 6 | Jan 23, 2022 |
| CPAP | 68 | Jan 25, 2022 |
| CPLANE1 | 69 | Mar 9, 2023 |
| CPS1 | 7 | Oct 9, 2025 |
| CR2 | 1 | Oct 9, 2025 |
| CRADD | 3 | Jan 25, 2022 |
| CRB2 | 16 | Oct 9, 2025 |
| CRBN | 20 | Jan 25, 2022 |
| CREBBP | 143 | Oct 9, 2025 |
| CRIPT | 1 | Jan 25, 2022 |
| CRPPA | 12 | Oct 9, 2025 |
| CRPPA-AS1 | 3 | Sep 15, 2015 |
| CRYAB | 1 | Jul 5, 2017 |
| CSF3R | 57 | Oct 9, 2025 |
| CSNK2A1 | 1 | Oct 9, 2025 |
| CSPP1 | 12 | Mar 9, 2023 |
| CST3 | 4 | Oct 9, 2025 |
| CSTB | 2 | Sep 15, 2015 |
| CTBP1 | 1 | Jan 23, 2022 |
| CTBP1-AS | 1 | Jan 23, 2022 |
| CTC1 | 71 | Oct 9, 2025 |
| CTCF | 14 | Oct 9, 2025 |
| CTDP1 | 2 | Oct 4, 2017 |
| CTLA4 | 4 | Oct 9, 2025 |
| CTNNA1 | 4 | Mar 9, 2023 |
| CTNNB1 | 19 | Mar 9, 2023 |
| CTPS1 | 7 | Mar 9, 2023 |
| CTSA | 1 | Sep 15, 2015 |
| CTSD | 8 | Jun 27, 2014 |
| CTSF | 2 | Jul 5, 2017 |
| CUL4B | 11 | Jan 25, 2022 |
| CUL7 | 2 | Jan 25, 2022 |
| CWF19L1 | 4 | Jun 27, 2014 |
| CXCR4 | 11 | Mar 9, 2023 |
| CYB561D2 | 1 | Jan 25, 2022 |
| CYB5A | 2 | Jan 25, 2022 |
| CYBA | 1 | Jan 24, 2022 |
| CYP11A1 | 6 | Jan 25, 2022 |
| CYP11B1 | 5 | Jan 25, 2022 |
| CYP17A1 | 5 | Oct 9, 2025 |
| CYP21A2 | 1 | Jul 5, 2017 |
| CYP24A1 | 2 | Jan 25, 2022 |
| CYP27A1 | 2 | Jul 5, 2017 |
| CYP7B1 | 2 | Jan 24, 2022 |
| CZ1P-ASNS | 7 | Jan 25, 2022 |
| D2HGDH | 54 | Dec 5, 2022 |
| DAG1 | 9 | Jan 25, 2022 |
| DARS2 | 3 | Jul 5, 2017 |
| DBT | 5 | Jan 24, 2022 |
| DCAF17 | 10 | Mar 9, 2023 |
| DCDC2 | 5 | Oct 9, 2025 |
| DCLRE1B | 2 | Sep 11, 2014 |
| DCPS | 1 | Jan 25, 2022 |
| DCX | 112 | Jan 25, 2022 |
| DDHD2 | 21 | Jan 25, 2022 |
| DDX11 | 3 | Mar 9, 2023 |
| DDX3X | 2 | Jan 25, 2022 |
| DDX41 | 87 | Oct 9, 2025 |
| DEAF1 | 19 | Jan 25, 2022 |
| DEPDC5 | 5 | Jan 24, 2022 |
| DES | 14 | Jul 5, 2017 |
| DGKE | 5 | Jan 25, 2022 |
| DHCR24 | 5 | Jan 25, 2022 |
| DHCR7 | 19 | Jan 25, 2022 |
| DHFR | 4 | Mar 9, 2023 |
| DHH | 3 | Jan 25, 2022 |
| DHH-AS1 | 2 | Jan 25, 2022 |
| DHODH | 2 | Jun 27, 2014 |
| DHX37 | 3 | Mar 9, 2023 |
| DIAPH1 | 4 | Jan 25, 2022 |
| DICER1 | 16 | Mar 9, 2023 |
| DIPK1A | 17 | Oct 9, 2025 |
| DIS3 | 13 | Oct 9, 2025 |
| DIS3L2 | 9 | Mar 9, 2023 |
| DKC1 | 21 | Oct 9, 2025 |
| DLAT | 4 | Jul 5, 2017 |
| DLG3 | 15 | Jan 25, 2022 |
| DLG3-AS1 | 5 | Oct 4, 2017 |
| DM1-AS | 3 | Oct 9, 2025 |
| DMAC2L | 5 | Jan 25, 2022 |
| DMD | 7 | Jan 25, 2022 |
| DMP1 | 1 | Jul 5, 2017 |
| DMP1-AS1 | 1 | Jul 5, 2017 |
| DMPK | 4 | Jun 27, 2014 |
| DMRTA2 | 5 | Jan 25, 2022 |
| DNA2 | 4 | Jan 25, 2022 |
| DNAH5 | 1 | Oct 9, 2025 |
| DNAI1 | 1 | Jan 25, 2022 |
| DNAJB1 | 2 | Jul 5, 2017 |
| DNAJB11 | 1 | Mar 9, 2023 |
| DNAJC21 | 29 | Oct 9, 2025 |
| DNAJC3 | 2 | Jan 25, 2022 |
| DNM1 | 3 | Jan 25, 2022 |
| DNM2 | 29 | Oct 4, 2017 |
| DNMT1 | 2 | Jan 23, 2022 |
| DNMT3A | 12 | Jan 25, 2022 |
| DNMT3B | 2 | Jan 25, 2022 |
| DOCK6 | 1 | Jan 24, 2022 |
| DOCK7 | 3 | Jan 25, 2022 |
| DOCK8 | 49 | Oct 9, 2025 |
| DOK7 | 20 | Jan 25, 2022 |
| DOLK | 2 | Jan 24, 2022 |
| DOP1A | 1 | Mar 9, 2023 |
| DPAGT1 | 1 | Apr 30, 2014 |
| DPM2 | 4 | Jun 27, 2014 |
| DPYD | 4 | Jan 24, 2022 |
| DPYD-AS1 | 1 | Jan 24, 2022 |
| DRC9 | 2 | Jul 5, 2017 |
| DSE | 2 | Mar 9, 2023 |
| DSP | 1 | Jan 24, 2022 |
| DST | 1 | Oct 9, 2025 |
| DTNBP1 | 11 | Jan 25, 2022 |
| DUOX2 | 5 | Oct 9, 2025 |
| DUT | 1 | Jan 25, 2022 |
| DUT-AS1 | 1 | Jan 25, 2022 |
| DVL1 | 1 | Jan 24, 2022 |
| DYNC1H1 | 136 | Jan 25, 2022 |
| DYNC2H1 | 32 | Oct 9, 2025 |
| DYNC2I1 | 1 | Jul 5, 2017 |
| DYNC2LI1 | 11 | Jan 25, 2022 |
| DYRK1A | 28 | Jan 25, 2022 |
| DYRK1B | 10 | Jan 25, 2022 |
| DYSF | 38 | Jan 25, 2022 |
| DZIP1L | 3 | Oct 9, 2025 |
| EARS2 | 1 | Oct 9, 2025 |
| EBF3 | 3 | Jan 24, 2022 |
| EBP | 35 | Jan 25, 2022 |
| ECEL1 | 19 | Mar 6, 2020 |
| ECHS1 | 1 | Oct 9, 2025 |
| EEF1A2 | 2 | Jan 25, 2022 |
| EEF2 | 3 | Jul 5, 2017 |
| EFCAB13-DT | 1 | Jan 25, 2022 |
| EFHC1 | 20 | Jan 25, 2022 |
| EFL1 | 5 | Mar 9, 2023 |
| EFNB1 | 6 | Jan 25, 2022 |
| EFTUD2 | 12 | Jan 25, 2022 |
| EGFR | 13 | Mar 9, 2023 |
| EGLN1 | 1 | Jul 5, 2017 |
| EHMT1 | 66 | Jan 25, 2022 |
| EIF2AK3 | 25 | Oct 9, 2025 |
| EIF2AK3-AS1 | 10 | Jan 25, 2022 |
| EIF2AK3-DT | 1 | Jan 25, 2022 |
| EIF2B1 | 1 | Mar 9, 2023 |
| EIF2B3 | 3 | Oct 9, 2025 |
| EIF2B4 | 2 | Jun 27, 2014 |
| EIF2B5 | 2 | Jan 24, 2022 |
| EIF2S3 | 7 | Jan 25, 2022 |
| ELAC2 | 1 | Jan 23, 2022 |
| ELANE | 25 | Mar 9, 2023 |
| ELOVL4 | 3 | Oct 9, 2025 |
| ELOVL5 | 1 | Sep 15, 2015 |
| EMD | 1 | Jul 5, 2017 |
| EME2 | 1 | Oct 9, 2025 |
| EML1 | 1 | Jan 25, 2022 |
| ENG | 16 | Oct 9, 2025 |
| ENPP1 | 3 | Jan 25, 2022 |
| ENTPD5 | 4 | Jul 5, 2017 |
| EOMES | 1 | Sep 15, 2015 |
| EP300 | 50 | Oct 9, 2025 |
| EPAS1 | 1 | Jul 5, 2017 |
| EPB41L1 | 30 | Jan 25, 2022 |
| EPCAM | 11 | Mar 9, 2023 |
| EPG5 | 1 | Sep 15, 2015 |
| EPHA2 | 1 | Jul 5, 2017 |
| EPM2A | 5 | Oct 4, 2017 |
| EPM2A-DT | 2 | Oct 4, 2017 |
| ERCC2 | 1 | Jul 5, 2017 |
| ERCC3 | 1 | Jan 24, 2022 |
| ERCC4 | 54 | Oct 9, 2025 |
| ERCC5 | 7 | Jan 24, 2022 |
| ERCC6 | 19 | Mar 9, 2023 |
| ERCC6L2 | 35 | Oct 9, 2025 |
| ERF | 2 | Jul 5, 2017 |
| ERLIN2 | 12 | Oct 9, 2025 |
| ERMARD | 10 | Jan 25, 2022 |
| ESCO2 | 13 | Jan 25, 2022 |
| ESR1 | 4 | Jul 5, 2017 |
| ESR2 | 5 | Mar 6, 2020 |
| ETHE1 | 2 | Jul 5, 2017 |
| ETV6 | 45 | Oct 9, 2025 |
| EVC | 5 | Oct 9, 2025 |
| EVC2 | 4 | Jan 25, 2022 |
| EXO1 | 1 | Jul 5, 2017 |
| EXOSC3 | 11 | Jan 25, 2022 |
| EYA1 | 3 | Mar 9, 2023 |
| EZH2 | 16 | Oct 9, 2025 |
| EZR | 21 | Jan 25, 2022 |
| FA2H | 11 | Jan 25, 2022 |
| FAM111A | 4 | Jan 25, 2022 |
| FAM20A | 1 | Mar 9, 2023 |
| FAM20C | 1 | Jan 25, 2022 |
| FANCA | 169 | Oct 9, 2025 |
| FANCB | 27 | Jan 25, 2022 |
| FANCC | 56 | Oct 9, 2025 |
| FANCD2 | 71 | Oct 9, 2025 |
| FANCD2OS | 15 | Mar 9, 2023 |
| FANCE | 27 | Oct 9, 2025 |
| FANCF | 30 | Jan 25, 2022 |
| FANCG | 30 | Oct 9, 2025 |
| FANCI | 78 | Oct 9, 2025 |
| FANCL | 29 | Oct 9, 2025 |
| FANCM | 60 | Oct 9, 2025 |
| FARS2 | 1 | Jan 24, 2022 |
| FAS | 6 | Jan 25, 2022 |
| FASLG | 1 | Jan 25, 2022 |
| FAT2 | 2 | Jan 23, 2022 |
| FAT4 | 25 | Mar 9, 2023 |
| FBN1 | 7 | Oct 9, 2025 |
| FBN2 | 37 | Jan 25, 2022 |
| FBXL3 | 9 | Jan 23, 2022 |
| FBXL4 | 1 | Jan 24, 2022 |
| FBXL5 | 37 | Mar 9, 2023 |
| FBXO11 | 2 | Jan 25, 2022 |
| FBXO31 | 9 | Jan 25, 2022 |
| FBXO7 | 1 | Oct 9, 2025 |
| FEZF1 | 4 | Jan 25, 2022 |
| FEZF1-AS1 | 1 | Jan 25, 2022 |
| FGA | 8 | Oct 9, 2025 |
| FGF12 | 2 | Jan 25, 2022 |
| FGF17 | 1 | Jan 25, 2022 |
| FGF8 | 2 | Jul 5, 2017 |
| FGFR1 | 10 | Mar 9, 2023 |
| FGFR2 | 10 | Oct 9, 2025 |
| FGFR3 | 10 | Jan 25, 2022 |
| FH | 16 | Oct 9, 2025 |
| FHL1 | 1 | Jul 5, 2017 |
| FIG4 | 5 | Oct 9, 2025 |
| FIGLA | 1 | Jan 25, 2022 |
| FKRP | 29 | Jan 25, 2022 |
| FKTN | 15 | Jan 25, 2022 |
| FLCN | 3 | Mar 9, 2023 |
| FLG | 1 | Oct 9, 2025 |
| FLI1 | 4 | Jan 25, 2022 |
| FLNA | 109 | Mar 9, 2023 |
| FLNC | 33 | Jan 25, 2022 |
| FLNC-AS1 | 12 | Jan 25, 2022 |
| FLVCR1 | 2 | Jun 27, 2014 |
| FLVCR2 | 2 | Oct 9, 2025 |
| FMN2 | 32 | Jan 25, 2022 |
| FMR1 | 11 | Jan 25, 2022 |
| FOLR1 | 5 | Jan 25, 2022 |
| FOLR1-AS1 | 5 | Jan 25, 2022 |
| FOXA2 | 7 | Jan 25, 2022 |
| FOXE1 | 1 | Jul 5, 2017 |
| FOXG1 | 44 | Jan 25, 2022 |
| FOXG1-AS1 | 1 | Jan 25, 2022 |
| FOXL2 | 2 | Mar 9, 2023 |
| FOXP1 | 27 | Jan 25, 2022 |
| FOXP2 | 2 | Jan 25, 2022 |
| FOXP3 | 15 | Jan 25, 2022 |
| FOXRED1 | 1 | Oct 4, 2017 |
| FRAS1 | 33 | Oct 9, 2025 |
| FREM2 | 17 | Oct 9, 2025 |
| FRMPD4 | 27 | Jan 25, 2022 |
| FSHB | 1 | Jan 25, 2022 |
| FTCD | 6 | Jun 27, 2014 |
| FTL | 3 | Jan 23, 2022 |
| FTSJ1 | 6 | Jan 25, 2022 |
| FXN | 3 | Jan 24, 2022 |
| FXYD2 | 1 | Jan 25, 2022 |
| FXYD6-FXYD2 | 1 | Jan 25, 2022 |
| FYB1 | 4 | Mar 9, 2023 |
| G6PC3 | 11 | Feb 18, 2022 |
| G6PD | 1 | Oct 9, 2025 |
| GAA | 39 | Oct 9, 2025 |
| GABRA1 | 6 | Jul 5, 2017 |
| GABRB3 | 2 | Jan 23, 2022 |
| GABRG2 | 5 | Jun 27, 2014 |
| GALC | 4 | Oct 9, 2025 |
| GALNT12 | 2 | Jan 25, 2022 |
| GALT | 2 | Oct 9, 2025 |
| GAMT | 7 | Jan 25, 2022 |
| GAN | 1 | Jun 27, 2014 |
| GANAB | 2 | Oct 9, 2025 |
| GAREM2 | 3 | Jan 25, 2022 |
| GATA1 | 11 | Oct 9, 2025 |
| GATA2 | 72 | Oct 9, 2025 |
| GATA2-AS1 | 8 | Jan 25, 2022 |
| GATA3 | 2 | Jan 25, 2022 |
| GATA4 | 13 | Jan 25, 2022 |
| GATA6 | 12 | Jan 25, 2022 |
| GATAD1 | 1 | Jan 25, 2022 |
| GATAD2B | 16 | Jan 25, 2022 |
| GATM | 2 | Jun 27, 2014 |
| GBA1 | 1 | Sep 15, 2015 |
| GBA2 | 3 | Oct 9, 2025 |
| GBE1 | 3 | Mar 6, 2020 |
| GCDH | 4 | Oct 9, 2025 |
| GCK | 108 | Oct 9, 2025 |
| GCM2 | 5 | Mar 9, 2023 |
| GDI1 | 14 | Jan 25, 2022 |
| GEN1 | 1 | Jul 5, 2017 |
| GFAP | 1 | Jan 23, 2022 |
| GFI1 | 28 | Oct 9, 2025 |
| GFI1B | 8 | Jan 25, 2022 |
| GFPT1 | 7 | Jul 5, 2017 |
| GH-LCR | 23 | Oct 4, 2017 |
| GJA1 | 6 | Jan 25, 2022 |
| GJB2 | 36 | Oct 4, 2017 |
| GJC2 | 1 | Jul 5, 2017 |
| GJD2-DT | 1 | Jan 24, 2022 |
| GLB1 | 5 | Oct 9, 2025 |
| GLI2 | 5 | Jan 25, 2022 |
| GLI3 | 21 | Jan 25, 2022 |
| GLIS2 | 3 | Mar 9, 2023 |
| GLIS3 | 24 | Oct 9, 2025 |
| GLIS3-AS1 | 2 | Mar 9, 2023 |
| GLUD1 | 19 | Dec 5, 2022 |
| GMPPB | 4 | Jan 24, 2022 |
| GNA11 | 5 | Jan 25, 2022 |
| GNAO1 | 3 | Jan 25, 2022 |
| GNAS | 15 | Jan 25, 2022 |
| GNPAT | 2 | Sep 15, 2015 |
| GNRHR | 4 | Mar 9, 2023 |
| GOSR2 | 2 | Sep 15, 2015 |
| GP1BA | 18 | Jan 25, 2022 |
| GP1BB | 6 | Oct 9, 2025 |
| GP9 | 3 | Oct 9, 2025 |
| GPAA1 | 2 | Jan 24, 2022 |
| GPC3 | 3 | Jan 25, 2022 |
| GPC4 | 1 | Jan 25, 2022 |
| GPD1 | 1 | Jan 25, 2022 |
| GPLD1 | 1 | Jul 5, 2017 |
| GPR143 | 8 | Mar 9, 2023 |
| GPR82 | 1 | Sep 11, 2014 |
| GPSM2 | 7 | Jan 25, 2022 |
| GREM1 | 1 | Jan 25, 2022 |
| GRIA3 | 7 | Mar 6, 2020 |
| GRIK2 | 32 | Jan 25, 2022 |
| GRIK3 | 1 | Jul 5, 2017 |
| GRIN1 | 21 | Jan 25, 2022 |
| GRIN2A | 44 | Mar 9, 2023 |
| GRIN2B | 42 | Jan 25, 2022 |
| GRIP1 | 3 | Jan 25, 2022 |
| GRM1 | 5 | Jun 27, 2014 |
| GRN | 2 | Jan 23, 2022 |
| GSEC | 1 | Jan 25, 2022 |
| GSKIP | 1 | Mar 9, 2023 |
| GSN | 16 | Oct 9, 2025 |
| GSS | 1 | Oct 9, 2025 |
| GTF3C2-AS2 | 2 | Jun 27, 2014 |
| GYS1 | 1 | Sep 11, 2014 |
| HADH | 9 | Jan 25, 2022 |
| HADHA | 4 | Jan 25, 2022 |
| HAX1 | 16 | Feb 18, 2022 |
| HBB | 3 | Oct 9, 2025 |
| HCCS | 5 | Jan 25, 2022 |
| HCFC1 | 49 | Jan 25, 2022 |
| HCN1 | 2 | Jan 25, 2022 |
| HDAC8 | 14 | Mar 9, 2023 |
| HEPACAM | 4 | Jan 25, 2022 |
| HERC1 | 10 | Jan 25, 2022 |
| HEXA | 7 | Oct 9, 2025 |
| HEXB | 7 | Oct 9, 2025 |
| HFE | 3 | Apr 26, 2018 |
| HFE-AS1 | 1 | Apr 26, 2018 |
| HFM1 | 2 | Jul 5, 2017 |
| HIBCH | 1 | Jan 24, 2022 |
| HIVEP2 | 8 | Jan 25, 2022 |
| HLCS | 1 | Jun 27, 2014 |
| HMBS | 1 | Apr 30, 2014 |
| HNF1A | 86 | Oct 9, 2025 |
| HNF1B | 19 | Oct 9, 2025 |
| HNF4A | 65 | Oct 9, 2025 |
| HNRNPU | 2 | Jan 25, 2022 |
| HNRNPUL2-BSCL2 | 9 | Jan 25, 2022 |
| HOGA1 | 2 | Oct 9, 2025 |
| HOXA1 | 1 | Jan 25, 2022 |
| HOXA11 | 3 | Mar 9, 2023 |
| HOXA13 | 3 | Jan 25, 2022 |
| HOXB13 | 3 | Mar 9, 2023 |
| HPRT1 | 3 | Jan 25, 2022 |
| HPS1 | 23 | Jan 25, 2022 |
| HPS3 | 7 | Jan 25, 2022 |
| HPS4 | 11 | Jan 25, 2022 |
| HPS5 | 14 | Jan 25, 2022 |
| HPS6 | 14 | Jan 25, 2022 |
| HRAS | 2 | Mar 9, 2023 |
| HSD11B1 | 1 | Jul 5, 2017 |
| HSD11B1-AS1 | 1 | Jul 5, 2017 |
| HSD17B10 | 6 | Jan 25, 2022 |
| HSD17B3 | 8 | Jan 25, 2022 |
| HSD17B3-AS1 | 5 | Jan 25, 2022 |
| HSD17B4 | 2 | Oct 9, 2025 |
| HSD3B2 | 4 | Mar 9, 2023 |
| HSPD1 | 3 | Jun 27, 2014 |
| HUWE1 | 57 | Jan 25, 2022 |
| IDH2 | 20 | Dec 5, 2022 |
| IDH2-DT | 1 | Jan 25, 2022 |
| IER3IP1 | 3 | Jan 25, 2022 |
| IFIH1 | 1 | Jul 5, 2017 |
| IFT122 | 9 | Jan 25, 2022 |
| IFT140 | 11 | Jan 25, 2022 |
| IFT172 | 27 | Oct 9, 2025 |
| IFT27 | 1 | Oct 9, 2025 |
| IFT54 | 3 | Oct 9, 2025 |
| IFT74 | 8 | Mar 9, 2023 |
| IGBP1 | 5 | Jan 25, 2022 |
| IGF1R | 1 | Jan 25, 2022 |
| IKZF1 | 18 | Oct 9, 2025 |
| IL11RA | 3 | Jan 25, 2022 |
| IL17RD | 5 | Mar 9, 2023 |
| IL1RAPL1 | 6 | Jan 25, 2022 |
| IL2RA | 3 | Jan 25, 2022 |
| IL4I1 | 5 | Sep 15, 2015 |
| IL7R | 1 | Oct 9, 2025 |
| INF2 | 7 | Oct 9, 2025 |
| INPP5E | 26 | Oct 9, 2025 |
| INPPL1 | 1 | Oct 9, 2025 |
| INS | 46 | Oct 9, 2025 |
| INS-IGF2 | 33 | Mar 9, 2023 |
| INSL6 | 20 | Oct 9, 2025 |
| INSR | 75 | Oct 9, 2025 |
| INVS | 5 | Oct 9, 2025 |
| IQCB1 | 4 | Oct 9, 2025 |
| IQSEC2 | 30 | Jan 25, 2022 |
| IRF2BPL | 1 | Jan 24, 2022 |
| IRF6 | 1 | Jul 5, 2017 |
| ITCH | 2 | Jan 25, 2022 |
| ITGA2B | 13 | Jan 25, 2022 |
| ITGA7 | 19 | Jul 5, 2017 |
| ITGB3 | 17 | Jan 25, 2022 |
| ITK | 13 | Oct 9, 2025 |
| ITPA | 1 | Jan 25, 2022 |
| ITPR1 | 13 | Jan 24, 2022 |
| IYD | 2 | Jul 5, 2017 |
| JAG1 | 6 | Mar 9, 2023 |
| JAK2 | 20 | Oct 9, 2025 |
| JMJD8 | 6 | Oct 9, 2025 |
| KAAG1 | 2 | Oct 9, 2025 |
| KANK1 | 1 | Jan 23, 2022 |
| KAT6A | 3 | Jan 25, 2022 |
| KAT6B | 1 | Sep 15, 2015 |
| KATNB1 | 16 | Jan 25, 2022 |
| KATNIP | 6 | Mar 9, 2023 |
| KBTBD13 | 11 | Jan 25, 2022 |
| KCNA1 | 4 | Jul 5, 2017 |
| KCNA2 | 1 | Jan 24, 2022 |
| KCNC3 | 5 | Jan 24, 2022 |
| KCND3 | 4 | Oct 9, 2025 |
| KCNH5 | 4 | Jan 25, 2022 |
| KCNJ10 | 17 | Jan 25, 2022 |
| KCNJ11 | 74 | Jan 25, 2022 |
| KCNMA1 | 16 | Oct 9, 2025 |
| KCNMA1-AS1 | 7 | Jan 25, 2022 |
| KCNN2 | 1 | Jan 23, 2022 |
| KCNN2-AS1 | 1 | Jan 23, 2022 |
| KCNQ1 | 1 | Sep 15, 2015 |
| KCNQ2 | 27 | Jan 25, 2022 |
| KCNQ3 | 10 | Oct 4, 2017 |
| KCNT1 | 30 | Jan 25, 2022 |
| KCTD7 | 4 | Sep 15, 2015 |
| KDM1A | 8 | Oct 9, 2025 |
| KDM5C | 21 | Jan 25, 2022 |
| KDM6A | 24 | Oct 9, 2025 |
| KIAA0586 | 15 | Oct 9, 2025 |
| KIDINS220 | 5 | Jan 25, 2022 |
| KIF11 | 28 | Jan 25, 2022 |
| KIF14 | 12 | Oct 9, 2025 |
| KIF1A | 92 | Jan 25, 2022 |
| KIF1B | 5 | Oct 9, 2025 |
| KIF1C | 1 | Jul 5, 2017 |
| KIF2A | 3 | Jan 25, 2022 |
| KIF4A | 2 | Jul 5, 2017 |
| KIF5A | 1 | Jan 23, 2022 |
| KIF5C | 2 | Jan 25, 2022 |
| KIF7 | 37 | Oct 9, 2025 |
| KIFBP | 16 | Jan 25, 2022 |
| KIRREL3 | 30 | Jan 25, 2022 |
| KIRREL3-AS1 | 3 | Mar 6, 2020 |
| KISS1R | 2 | Mar 9, 2023 |
| KIT | 12 | Mar 9, 2023 |
| KLF11 | 16 | Mar 9, 2023 |
| KLF8 | 2 | Oct 4, 2017 |
| KLHDC8B | 3 | Mar 9, 2023 |
| KLHL3 | 1 | Oct 9, 2025 |
| KLHL40 | 2 | Jan 25, 2022 |
| KLHL41 | 1 | Jan 25, 2022 |
| KLLN | 27 | Jan 25, 2022 |
| KMT2A | 27 | Jan 25, 2022 |
| KMT2B | 1 | Jan 23, 2022 |
| KMT2D | 247 | Oct 9, 2025 |
| KNL1 | 71 | Mar 9, 2023 |
| KPTN | 14 | Jan 25, 2022 |
| KRT5 | 1 | Jul 5, 2017 |
| KRTCAP3 | 1 | Jan 25, 2022 |
| KSR2 | 3 | Jan 25, 2022 |
| L1CAM | 35 | Dec 5, 2022 |
| L2HGDH | 30 | Jan 25, 2022 |
| LALTOP | 2 | Oct 9, 2025 |
| LAMA1 | 3 | Jul 5, 2017 |
| LAMA2 | 71 | Jan 25, 2022 |
| LAMB1 | 24 | Jan 25, 2022 |
| LAMB2 | 2 | Jan 25, 2022 |
| LAMC3 | 77 | Jan 25, 2022 |
| LARGE1 | 31 | Oct 9, 2025 |
| LARP7 | 5 | Jan 25, 2022 |
| LARS2 | 1 | Jan 24, 2022 |
| LARS2-AS1 | 1 | Jan 24, 2022 |
| LDB3 | 2 | Jul 5, 2017 |
| LDLR | 4 | Oct 9, 2025 |
| LDLRAP1 | 1 | Jan 25, 2022 |
| LEP | 2 | Jan 25, 2022 |
| LEPR | 13 | Mar 9, 2023 |
| LGI1 | 1 | Apr 30, 2014 |
| LHCGR | 9 | Oct 9, 2025 |
| LHX3 | 1 | Mar 9, 2023 |
| LIG4 | 27 | Oct 9, 2025 |
| LINC01551 | 1 | Jan 25, 2022 |
| LINS1 | 21 | Jan 25, 2022 |
| LIPC | 1 | Jan 25, 2022 |
| LIPE | 16 | Mar 9, 2023 |
| LIPE-AS1 | 16 | Mar 9, 2023 |
| LIX1L-AS1 | 4 | Feb 18, 2022 |
| LMBRD1 | 1 | Jan 24, 2022 |
| LMNA | 65 | Dec 5, 2022 |
| LMNB1 | 2 | Jan 25, 2022 |
| LMNB2 | 9 | Jan 25, 2022 |
| LMOD3 | 3 | Jan 25, 2022 |
| LOC100130587 | 2 | Jun 27, 2014 |
| LOC100507346 | 5 | Mar 9, 2023 |
| LOC101927055 | 12 | Jul 5, 2017 |
| LOC101928008 | 10 | Jan 25, 2022 |
| LOC101928051 | 1 | Jul 5, 2017 |
| LOC101928335 | 5 | Jan 25, 2022 |
| LOC101929710 | 11 | Jan 25, 2022 |
| LOC101930071 | 8 | Jan 25, 2022 |
| LOC102723566 | 10 | Oct 9, 2025 |
| LOC102724058 | 24 | Jan 25, 2022 |
| LOC105369149 | 9 | Jan 25, 2022 |
| LOC105371046 | 3 | Jan 25, 2022 |
| LOC105371566 | 1 | Jul 5, 2017 |
| LOC105377102 | 1 | Jan 25, 2022 |
| LOC105378353 | 2 | Jun 27, 2014 |
| LOC106099062 | 3 | Oct 9, 2025 |
| LOC106501713 | 3 | Oct 9, 2025 |
| LOC106627981 | 1 | Sep 15, 2015 |
| LOC106694316 | 1 | Oct 9, 2025 |
| LOC106721785 | 5 | Jan 25, 2022 |
| LOC106736614 | 1 | Jan 25, 2022 |
| LOC106780800 | 1 | Jul 5, 2017 |
| LOC106799833 | 3 | Jan 25, 2022 |
| LOC107075317 | 4 | Oct 9, 2025 |
| LOC107126281 | 1 | Mar 9, 2023 |
| LOC107126288 | 3 | Jan 25, 2022 |
| LOC107133510 | 3 | Oct 9, 2025 |
| LOC107303338 | 55 | Oct 9, 2025 |
| LOC107303340 | 7 | Oct 9, 2025 |
| LOC107303343 | 4 | Oct 9, 2025 |
| LOC107548112 | 1 | Jan 25, 2022 |
| LOC107982234 | 5 | Jan 25, 2022 |
| LOC107985033 | 2 | Jan 25, 2022 |
| LOC108021846 | 1 | Jan 25, 2022 |
| LOC108281134 | 1 | Jan 25, 2022 |
| LOC108281177 | 1 | Jan 25, 2022 |
| LOC108491825 | 1 | Jan 25, 2022 |
| LOC108663984 | 4 | Mar 9, 2023 |
| LOC108663987 | 4 | Sep 15, 2015 |
| LOC108663993 | 10 | Sep 15, 2015 |
| LOC108663996 | 4 | Sep 15, 2015 |
| LOC109461484 | 5 | Mar 6, 2020 |
| LOC109504725 | 6 | Oct 4, 2017 |
| LOC109610631 | 17 | Jan 25, 2022 |
| LOC109611589 | 4 | Jan 25, 2022 |
| LOC109623489 | 4 | Jan 25, 2022 |
| LOC110011216 | 3 | Mar 9, 2023 |
| LOC110121471 | 5 | Jan 25, 2022 |
| LOC110806263 | 17 | Oct 9, 2025 |
| LOC110806306 | 24 | Oct 9, 2025 |
| LOC111589215 | 8 | Jan 25, 2022 |
| LOC111674477 | 1 | Jun 27, 2014 |
| LOC111721705 | 4 | Jan 25, 2022 |
| LOC112486223 | 6 | Mar 9, 2023 |
| LOC112533671 | 3 | Dec 5, 2022 |
| LOC112533672 | 2 | Mar 9, 2023 |
| LOC112997540 | 2 | Mar 9, 2023 |
| LOC113839516 | 1 | Jul 5, 2017 |
| LOC113845788 | 2 | Jan 25, 2022 |
| LOC114803470 | 1 | Sep 15, 2015 |
| LOC114803475 | 4 | Oct 9, 2025 |
| LOC115308161 | 21 | Jan 25, 2022 |
| LOC119407405 | 1 | Jan 25, 2022 |
| LOC121530580 | 1 | Jan 25, 2022 |
| LOC121627832 | 2 | Jul 5, 2017 |
| LOC121627969 | 3 | Jul 5, 2017 |
| LOC121852963 | 1 | Jul 5, 2017 |
| LOC121853052 | 1 | Sep 11, 2014 |
| LOC122094844 | 1 | Jan 25, 2022 |
| LOC122787137 | 1 | Jan 25, 2022 |
| LOC123864065 | 6 | Jan 25, 2022 |
| LOC124629423 | 1 | Sep 15, 2015 |
| LOC125467768 | 4 | Jul 5, 2017 |
| LOC126805576 | 1 | Jun 27, 2014 |
| LOC126805612 | 3 | Oct 9, 2025 |
| LOC126805670 | 5 | Mar 9, 2023 |
| LOC126805822 | 2 | Jul 5, 2017 |
| LOC126805851 | 6 | Feb 18, 2022 |
| LOC126805874 | 1 | Oct 9, 2025 |
| LOC126805877 | 8 | Jan 25, 2022 |
| LOC126805994 | 1 | Oct 9, 2025 |
| LOC126806063 | 1 | Jul 5, 2017 |
| LOC126806069 | 2 | Jul 5, 2017 |
| LOC126806104 | 1 | Oct 9, 2025 |
| LOC126806173 | 3 | Jan 25, 2022 |
| LOC126806174 | 2 | Jan 25, 2022 |
| LOC126806252 | 3 | Jan 25, 2022 |
| LOC126806253 | 3 | Jul 5, 2017 |
| LOC126806420 | 4 | Jan 25, 2022 |
| LOC126806421 | 2 | Jun 27, 2014 |
| LOC126806423 | 2 | Jun 27, 2014 |
| LOC126806424 | 3 | Jul 5, 2017 |
| LOC126806425 | 6 | Sep 15, 2015 |
| LOC126806426 | 2 | Sep 15, 2015 |
| LOC126806427 | 5 | Jun 27, 2014 |
| LOC126806428 | 5 | Oct 4, 2017 |
| LOC126806429 | 3 | Jan 25, 2022 |
| LOC126806430 | 6 | Jul 5, 2017 |
| LOC126806431 | 3 | Mar 6, 2020 |
| LOC126806433 | 1 | Apr 30, 2014 |
| LOC126806462 | 2 | Jan 25, 2022 |
| LOC126806516 | 1 | Jul 5, 2017 |
| LOC126806573 | 2 | Apr 30, 2014 |
| LOC126806583 | 3 | Jan 25, 2022 |
| LOC126806590 | 2 | Jun 27, 2014 |
| LOC126806629 | 1 | Jan 25, 2022 |
| LOC126806630 | 1 | Jul 5, 2017 |
| LOC126806658 | 7 | Jan 25, 2022 |
| LOC126806659 | 2 | Jul 5, 2017 |
| LOC126806689 | 2 | Jan 25, 2022 |
| LOC126806710 | 2 | Jul 5, 2017 |
| LOC126806714 | 2 | Sep 15, 2015 |
| LOC126806830 | 1 | Jan 25, 2022 |
| LOC126806961 | 1 | Jul 5, 2017 |
| LOC126807088 | 1 | Jan 25, 2022 |
| LOC126807392 | 2 | Jan 25, 2022 |
| LOC126807501 | 1 | Jun 27, 2014 |
| LOC126807619 | 11 | Sep 15, 2015 |
| LOC126859646 | 1 | Oct 9, 2025 |
| LOC126859690 | 1 | Oct 9, 2025 |
| LOC126859771 | 3 | Jul 5, 2017 |
| LOC126859837 | 1 | Jan 25, 2022 |
| LOC126859852 | 1 | Jul 5, 2017 |
| LOC126860130 | 4 | Sep 15, 2015 |
| LOC126860131 | 2 | Jul 5, 2017 |
| LOC126860216 | 1 | Mar 6, 2020 |
| LOC126860303 | 2 | Jul 5, 2017 |
| LOC126860342 | 1 | Jan 25, 2022 |
| LOC126860403 | 5 | Jan 25, 2022 |
| LOC126860438 | 4 | Oct 9, 2025 |
| LOC126860469 | 5 | Jan 25, 2022 |
| LOC126860498 | 1 | Jun 27, 2014 |
| LOC126860552 | 4 | Mar 9, 2023 |
| LOC126860777 | 3 | Oct 4, 2017 |
| LOC126860797 | 3 | Mar 9, 2023 |
| LOC126860802 | 3 | Jan 25, 2022 |
| LOC126860933 | 2 | Jul 5, 2017 |
| LOC126860970 | 1 | Jul 5, 2017 |
| LOC126861109 | 3 | Jul 5, 2017 |
| LOC126861232 | 3 | Jan 25, 2022 |
| LOC126861339 | 2 | Jan 25, 2022 |
| LOC126861451 | 2 | Jan 25, 2022 |
| LOC126861452 | 6 | Jan 25, 2022 |
| LOC126861509 | 1 | Sep 15, 2015 |
| LOC126861520 | 12 | Jan 25, 2022 |
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| LOC130062441 | 1 | Jan 25, 2022 |
| LOC130062899 | 1 | Jan 25, 2022 |
| LOC130062945 | 1 | Sep 15, 2015 |
| LOC130063169 | 1 | Jun 27, 2014 |
| LOC130063317 | 1 | Jan 25, 2022 |
| LOC130063353 | 1 | Sep 15, 2015 |
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| LOC130065309 | 1 | Jun 27, 2014 |
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| LOC130065546 | 1 | Jan 25, 2022 |
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| LOC130066788 | 1 | Jun 27, 2014 |
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| LOC130068055 | 1 | Jan 25, 2022 |
| LOC130068281 | 1 | Sep 15, 2015 |
| LOC130068308 | 1 | Jul 5, 2017 |
| LOC130068396 | 1 | Jan 25, 2022 |
| LOC130068460 | 3 | Jan 25, 2022 |
| LOC130068746 | 1 | Oct 4, 2017 |
| LOC130068747 | 1 | Sep 15, 2015 |
| LOC130068760 | 1 | Sep 15, 2015 |
| LOC130068842 | 1 | Jul 5, 2017 |
| LOC130068854 | 1 | Jan 25, 2022 |
| LOC130068886 | 5 | Jan 25, 2022 |
| LOC132090445 | 1 | Jan 25, 2022 |
| LOC132090450 | 3 | Jan 25, 2022 |
| LOC132090521 | 1 | Jan 25, 2022 |
| LPL | 1 | Jan 25, 2022 |
| LRBA | 35 | Oct 9, 2025 |
| LRMDA | 1 | Jul 5, 2017 |
| LRP2 | 81 | Jan 25, 2022 |
| LRP4 | 5 | Jan 25, 2022 |
| LRP4-AS1 | 1 | Jan 25, 2022 |
| LRP5 | 11 | Oct 9, 2025 |
| LRPPRC | 5 | Jan 24, 2022 |
| LRRC37A2 | 2 | Sep 15, 2015 |
| LRRC56 | 2 | Mar 9, 2023 |
| LRSAM1 | 1 | Jan 24, 2022 |
| LURAP1L-AS1 | 12 | Jan 25, 2022 |
| LYST | 30 | Oct 9, 2025 |
| LYZ | 3 | Jan 25, 2022 |
| LZTR1 | 1 | Mar 9, 2023 |
| MAF | 7 | Jan 25, 2022 |
| MAFA | 4 | Mar 9, 2023 |
| MAG | 1 | Jan 25, 2022 |
| MAGEL2 | 36 | Jan 25, 2022 |
| MAGI2 | 23 | Jan 25, 2022 |
| MAGI2-AS3 | 1 | Apr 30, 2014 |
| MAGT1 | 6 | Mar 9, 2023 |
| MAK16 | 2 | Jan 25, 2022 |
| MAMLD1 | 6 | Jan 25, 2022 |
| MAN1B1 | 47 | Jan 25, 2022 |
| MAN2B1 | 6 | Jan 24, 2022 |
| MAOA | 12 | Jan 25, 2022 |
| MAP2K2 | 1 | Jan 25, 2022 |
| MAP3K1 | 17 | Mar 9, 2023 |
| MAPK10 | 4 | Sep 15, 2015 |
| MAPK10-AS1 | 1 | Sep 15, 2015 |
| MAPKBP1 | 10 | Oct 9, 2025 |
| MAX | 3 | Jan 25, 2022 |
| MBD4 | 14 | Oct 9, 2025 |
| MBD5 | 31 | Jan 25, 2022 |
| MC4R | 15 | Oct 9, 2025 |
| MCM7 | 1 | Sep 15, 2015 |
| MCM9 | 2 | Mar 9, 2023 |
| MCOLN1 | 1 | Jan 24, 2022 |
| MCPH1 | 99 | Mar 9, 2023 |
| MCPH1-AS1 | 26 | Oct 4, 2017 |
| MEA1 | 2 | Jan 25, 2022 |
| MECOM | 36 | Oct 9, 2025 |
| MECP2 | 122 | Jan 25, 2022 |
| MED12 | 37 | Jan 25, 2022 |
| MED13L | 1 | Jan 25, 2022 |
| MED17 | 24 | Jan 25, 2022 |
| MED23 | 20 | Jan 25, 2022 |
| MED25 | 5 | Jan 25, 2022 |
| MEF2C | 15 | Jan 25, 2022 |
| MEF2C-AS2 | 2 | Sep 15, 2015 |
| MEFV | 1 | Oct 9, 2025 |
| MEGF10 | 2 | Jan 25, 2022 |
| MEGF8 | 5 | Jan 25, 2022 |
| MEN1 | 15 | Oct 9, 2025 |
| MET | 10 | Oct 9, 2025 |
| METTL23 | 7 | Jan 25, 2022 |
| METTL5 | 3 | Mar 9, 2023 |
| MFF-DT | 8 | Oct 9, 2025 |
| MFSD2A | 6 | Jan 25, 2022 |
| MFSD8 | 5 | Oct 4, 2017 |
| MHRT | 6 | Jan 24, 2022 |
| MID1 | 19 | Jan 25, 2022 |
| MID2 | 6 | Jan 25, 2022 |
| MIF4GD-DT | 5 | Jul 5, 2017 |
| MIR302CHG | 4 | Jan 25, 2022 |
| MIR6857 | 1 | Sep 15, 2015 |
| MITF | 6 | Mar 9, 2023 |
| MKKS | 11 | Jan 25, 2022 |
| MKS1 | 28 | Oct 9, 2025 |
| MLC1 | 10 | Jan 24, 2022 |
| MLDHR | 3 | Jan 25, 2022 |
| MLH1 | 54 | Oct 9, 2025 |
| MLH3 | 1 | Oct 9, 2025 |
| MLPH | 10 | Jan 25, 2022 |
| MMAA | 1 | Jan 24, 2022 |
| MMACHC | 2 | Oct 9, 2025 |
| MMADHC | 1 | Jan 24, 2022 |
| MME | 2 | Mar 9, 2023 |
| MMUT | 3 | Oct 9, 2025 |
| MNX1 | 10 | Jan 25, 2022 |
| MNX1-AS2 | 4 | Jan 25, 2022 |
| MPDZ | 26 | Jan 25, 2022 |
| MPI | 8 | Mar 9, 2023 |
| MPL | 45 | Oct 9, 2025 |
| MPO | 1 | Oct 9, 2025 |
| MPZ | 1 | Jun 27, 2014 |
| MR1 | 2 | Jun 27, 2014 |
| MRE11 | 3 | Jan 25, 2022 |
| MRPL36 | 1 | Sep 15, 2015 |
| MRPS34 | 1 | Oct 9, 2025 |
| MRTFA | 19 | Mar 9, 2023 |
| MSH2 | 75 | Oct 9, 2025 |
| MSH3 | 17 | Oct 9, 2025 |
| MSH6 | 93 | Oct 9, 2025 |
| MSTO1 | 4 | Mar 9, 2023 |
| MSX2 | 2 | Jan 25, 2022 |
| MTFMT | 2 | Jan 24, 2022 |
| MTM1 | 160 | Jan 25, 2022 |
| MTOR | 6 | Oct 9, 2025 |
| MTPAP | 1 | Jun 27, 2014 |
| MTRFR | 1 | Jun 27, 2014 |
| MTTP | 7 | Jul 5, 2017 |
| MUSK | 13 | Jul 5, 2017 |
| MUTYH | 30 | Oct 9, 2025 |
| MVK | 6 | Oct 9, 2025 |
| MVP-DT | 6 | Oct 4, 2017 |
| MYBPC1 | 14 | Jul 5, 2017 |
| MYEF2 | 3 | Jan 25, 2022 |
| MYF6 | 1 | Jul 5, 2017 |
| MYH11 | 8 | Oct 9, 2025 |
| MYH2 | 3 | Jan 25, 2022 |
| MYH3 | 36 | Dec 5, 2022 |
| MYH7 | 26 | Jan 25, 2022 |
| MYH8 | 28 | Jan 25, 2022 |
| MYH9 | 18 | Oct 9, 2025 |
| MYHAS | 31 | Jan 25, 2022 |
| MYO15A | 2 | Jan 24, 2022 |
| MYO1E | 5 | Oct 9, 2025 |
| MYO5A | 11 | Oct 4, 2017 |
| MYO5B | 1 | Jan 25, 2022 |
| MYO7A | 2 | Oct 9, 2025 |
| MYOT | 3 | Jun 27, 2014 |
| MYRF | 2 | Jan 25, 2022 |
| MYT1L | 3 | Jan 25, 2022 |
| NAA10 | 2 | Jul 5, 2017 |
| NAF1 | 18 | Mar 9, 2023 |
| NAGA | 1 | Jul 5, 2017 |
| NALCN | 3 | Jan 25, 2022 |
| NBEAL2 | 32 | Jan 25, 2022 |
| NBN | 56 | Oct 9, 2025 |
| NDE1 | 27 | Oct 4, 2017 |
| NDST1 | 31 | Jan 25, 2022 |
| NDUFA10 | 2 | Jun 27, 2014 |
| NDUFA9 | 1 | Jun 27, 2014 |
| NDUFAF1 | 4 | Mar 6, 2020 |
| NDUFAF2 | 1 | Jun 27, 2014 |
| NDUFAF4 | 2 | Jun 27, 2014 |
| NDUFAF5 | 2 | Sep 15, 2015 |
| NDUFAF6 | 2 | Oct 9, 2025 |
| NDUFB3 | 2 | Jan 24, 2022 |
| NDUFS1 | 2 | Jun 27, 2014 |
| NDUFS2 | 2 | Jun 27, 2014 |
| NDUFS4 | 3 | Jun 27, 2014 |
| NDUFS6 | 1 | Sep 15, 2015 |
| NDUFS7 | 3 | Jun 27, 2014 |
| NDUFV2 | 3 | Oct 9, 2025 |
| NEB | 101 | Jan 25, 2022 |
| NEDD4L | 1 | Jan 25, 2022 |
| NEK1 | 9 | Oct 9, 2025 |
| NEK8 | 3 | Oct 9, 2025 |
| NEU1 | 2 | Jul 5, 2017 |
| NEUROD1 | 5 | Oct 9, 2025 |
| NEUROG3 | 3 | Jul 5, 2017 |
| NEXMIF | 24 | Mar 6, 2020 |
| NF1 | 97 | Oct 9, 2025 |
| NF2 | 6 | Mar 9, 2023 |
| NFIA | 4 | Jul 5, 2017 |
| NFIX | 5 | Jan 25, 2022 |
| NHEJ1 | 4 | Jul 5, 2017 |
| NHLRC1 | 4 | Jan 24, 2022 |
| NHP2 | 16 | Mar 9, 2023 |
| NHS | 35 | Jan 25, 2022 |
| NIN | 62 | Jan 25, 2022 |
| NIPA1 | 2 | Sep 15, 2015 |
| NIPBL | 350 | Dec 5, 2022 |
| NKIRAS1 | 8 | Mar 9, 2023 |
| NKX2-1 | 2 | Mar 6, 2020 |
| NKX2-2 | 4 | Jan 25, 2022 |
| NKX2-5 | 14 | Oct 4, 2017 |
| NLGN3 | 15 | Jan 25, 2022 |
| NLGN4X | 14 | Jan 25, 2022 |
| NLRC4 | 1 | Jan 25, 2022 |
| NONO | 1 | Jan 25, 2022 |
| NOP10 | 4 | Jan 25, 2022 |
| NOP56 | 5 | Jun 27, 2014 |
| NOTCH2 | 9 | Mar 9, 2023 |
| NOTCH3 | 1 | Jul 5, 2017 |
| NPAT | 48 | Mar 9, 2023 |
| NPC1 | 19 | Oct 9, 2025 |
| NPHP1 | 12 | Mar 9, 2023 |
| NPHP3 | 10 | Oct 9, 2025 |
| NPHP3-ACAD11 | 11 | Oct 9, 2025 |
| NPHP3-AS1 | 1 | Jul 5, 2017 |
| NPHP4 | 17 | Oct 9, 2025 |
| NPHS1 | 8 | Oct 9, 2025 |
| NPHS2 | 5 | Oct 9, 2025 |
| NPM1 | 3 | Mar 9, 2023 |
| NR0B1 | 3 | Jan 25, 2022 |
| NR0B2 | 3 | Jan 25, 2022 |
| NR2F1 | 1 | Jan 25, 2022 |
| NR2F2 | 1 | Mar 9, 2023 |
| NR3C2 | 2 | Mar 9, 2023 |
| NR5A1 | 15 | Oct 9, 2025 |
| NRAS | 1 | Sep 15, 2015 |
| NRXN1 | 66 | Dec 5, 2022 |
| NRXN2 | 53 | Jan 25, 2022 |
| NSD1 | 269 | Mar 9, 2023 |
| NSD2 | 1 | Jul 5, 2017 |
| NSDHL | 21 | Jan 25, 2022 |
| NSMF | 4 | Mar 9, 2023 |
| NSUN2 | 40 | Jan 25, 2022 |
| NT5DC4 | 1 | Mar 9, 2023 |
| NTHL1 | 4 | Mar 9, 2023 |
| NTRK2 | 13 | Oct 9, 2025 |
| NUDC | 3 | Jan 25, 2022 |
| NUP214 | 1 | Oct 9, 2025 |
| NUP62 | 5 | Sep 15, 2015 |
| OBSL1 | 2 | Jan 25, 2022 |
| OCA2 | 45 | Mar 9, 2023 |
| OCLN | 12 | Jan 25, 2022 |
| OCRL | 16 | Mar 9, 2023 |
| OFD1 | 34 | Mar 9, 2023 |
| OPA1 | 1 | Jul 5, 2017 |
| OPA3 | 1 | Jun 27, 2014 |
| OPHN1 | 22 | Jan 25, 2022 |
| ORC1 | 34 | Jan 25, 2022 |
| ORC4 | 15 | Jan 25, 2022 |
| ORC6 | 8 | Jul 5, 2017 |
| OTC | 2 | Jan 25, 2022 |
| OTUD4 | 1 | Sep 15, 2015 |
| OXTR | 3 | Jun 27, 2014 |
| PACS1 | 35 | Jan 25, 2022 |
| PAFAH1B1 | 111 | Dec 5, 2022 |
| PAH | 2 | Jan 24, 2022 |
| PAK3 | 7 | Jan 25, 2022 |
| PALB2 | 79 | Oct 9, 2025 |
| PALD1 | 1 | Jan 25, 2022 |
| PALLD | 1 | Sep 15, 2015 |
| PANK2 | 2 | Mar 9, 2023 |
| PARN | 43 | Oct 9, 2025 |
| PAX4 | 20 | Oct 9, 2025 |
| PAX5 | 31 | Oct 9, 2025 |
| PAX8 | 2 | Jul 5, 2017 |
| PAX8-AS1 | 2 | Jul 5, 2017 |
| PC | 2 | Jul 5, 2017 |
| PCDH19 | 44 | Dec 5, 2022 |
| PCLO | 5 | Jan 25, 2022 |
| PCNT | 413 | Mar 9, 2023 |
| PCSK1 | 11 | Jan 25, 2022 |
| PCSK9 | 2 | Jan 25, 2022 |
| PDE4D | 2 | Jan 25, 2022 |
| PDGFRA | 10 | Mar 9, 2023 |
| PDGFRB | 1 | Jan 23, 2022 |
| PDHA1 | 5 | Jan 25, 2022 |
| PDHB | 1 | Jun 27, 2014 |
| PDSS1 | 3 | Oct 9, 2025 |
| PDX1 | 14 | Mar 9, 2023 |
| PDYN | 5 | Jan 23, 2022 |
| PDYN-AS1 | 5 | Jan 23, 2022 |
| PDZD7 | 1 | Jan 24, 2022 |
| PEX1 | 5 | Mar 9, 2023 |
| PEX10 | 3 | Jul 5, 2017 |
| PEX12 | 2 | Oct 9, 2025 |
| PEX16 | 1 | Jan 24, 2022 |
| PEX2 | 1 | Sep 15, 2015 |
| PEX6 | 1 | Jul 5, 2017 |
| PEX7 | 7 | Oct 9, 2025 |
| PFAS | 3 | Feb 18, 2022 |
| PFN1 | 1 | Jan 23, 2022 |
| PGAP1 | 16 | Oct 9, 2025 |
| PGBD3 | 2 | Jan 25, 2022 |
| PGM1 | 8 | Jan 25, 2022 |
| PGM3 | 7 | Oct 9, 2025 |
| PHC1 | 15 | Jan 25, 2022 |
| PHF6 | 4 | Sep 15, 2015 |
| PHF8 | 11 | Jan 25, 2022 |
| PHGDH | 2 | Jan 25, 2022 |
| PHIP | 4 | Oct 9, 2025 |
| PHOX2B | 6 | Oct 9, 2025 |
| PHOX2B-AS1 | 2 | Oct 9, 2025 |
| PHYH | 4 | Jan 24, 2022 |
| PI4KA | 5 | Oct 9, 2025 |
| PIBF1 | 2 | Jan 25, 2022 |
| PIEZO2 | 7 | Jan 25, 2022 |
| PIGA | 1 | Sep 15, 2015 |
| PIGG | 1 | Mar 9, 2023 |
| PIGL | 19 | Sep 11, 2014 |
| PIK3CA | 2 | Jan 25, 2022 |
| PIK3CD | 20 | Oct 9, 2025 |
| PIK3R1 | 17 | Dec 5, 2022 |
| PIK3R2 | 6 | Jan 25, 2022 |
| PIK3R5 | 7 | Mar 6, 2020 |
| PKD1 | 75 | Oct 9, 2025 |
| PKD1-AS1 | 5 | Oct 9, 2025 |
| PKD2 | 19 | Oct 9, 2025 |
| PKD2L2-DT | 3 | Jun 27, 2014 |
| PKHD1 | 17 | Oct 9, 2025 |
| PLA2G6 | 73 | Oct 9, 2025 |
| PLCB1 | 26 | Mar 6, 2020 |
| PLEC | 118 | Mar 9, 2023 |
| PLEKHG4 | 3 | Jun 27, 2014 |
| PLIN1 | 16 | Mar 9, 2023 |
| PLK4 | 10 | Jan 25, 2022 |
| PLOD1 | 1 | Oct 9, 2025 |
| PLP1 | 6 | Jan 25, 2022 |
| PLUT | 3 | Jan 25, 2022 |
| PLXNB3-AS1 | 1 | Jul 5, 2017 |
| PMM2 | 22 | Oct 9, 2025 |
| PMP22 | 1 | Sep 15, 2015 |
| PMPCA | 1 | Oct 9, 2025 |
| PMS1 | 11 | Oct 9, 2025 |
| PMS2 | 92 | Oct 9, 2025 |
| PNKP | 64 | Oct 9, 2025 |
| PNP | 1 | Mar 9, 2023 |
| PNPLA6 | 4 | Jan 24, 2022 |
| PNPO | 6 | Jan 25, 2022 |
| POC1A | 6 | Sep 15, 2015 |
| POGZ | 2 | Oct 9, 2025 |
| POLD1 | 57 | Oct 9, 2025 |
| POLE | 74 | Mar 9, 2023 |
| POLG | 38 | Oct 9, 2025 |
| POLGARF | 38 | Oct 9, 2025 |
| POLR1C | 6 | Jan 24, 2022 |
| POLR3A | 8 | Jan 24, 2022 |
| POLR3B | 9 | Oct 9, 2025 |
| POMC | 11 | Mar 9, 2023 |
| POMGNT1 | 19 | Jan 25, 2022 |
| POMGNT2 | 19 | Dec 5, 2022 |
| POMK | 7 | Jan 25, 2022 |
| POMT1 | 36 | Jan 25, 2022 |
| POMT2 | 21 | Jan 25, 2022 |
| POR | 11 | Oct 9, 2025 |
| POT1 | 46 | Oct 9, 2025 |
| PPARG | 29 | Oct 9, 2025 |
| PPP1R15B | 9 | Oct 9, 2025 |
| PPP1R3A | 1 | Jul 5, 2017 |
| PPP2R5D | 2 | Jan 25, 2022 |
| PPT1 | 7 | Jan 24, 2022 |
| PQBP1 | 6 | Jan 25, 2022 |
| PRADX | 2 | Jun 27, 2014 |
| PRDM9 | 3 | Jul 5, 2017 |
| PREPL | 6 | Oct 9, 2025 |
| PRF1 | 17 | Oct 9, 2025 |
| PRICKLE1 | 10 | Sep 15, 2015 |
| PRICKLE2 | 7 | Sep 15, 2015 |
| PRICKLE2-AS3 | 1 | Jun 27, 2014 |
| PRKACG | 3 | Jan 25, 2022 |
| PRKAR1A | 5 | Mar 9, 2023 |
| PRKCG | 9 | Oct 9, 2025 |
| PRKCSH | 5 | Oct 9, 2025 |
| PRKN | 2 | Jan 24, 2022 |
| PRMT7 | 6 | Mar 9, 2023 |
| PRNP | 3 | Oct 9, 2025 |
| PROK2 | 2 | Jan 25, 2022 |
| PROKR2 | 4 | Mar 9, 2023 |
| PROP1 | 1 | Jul 5, 2017 |
| PRPH2 | 1 | Jan 24, 2022 |
| PRPS1 | 2 | Jan 25, 2022 |
| PRRT2 | 6 | Oct 4, 2017 |
| PRSS12 | 39 | Jan 25, 2022 |
| PRSS37 | 1 | Jul 5, 2017 |
| PRX | 6 | Jun 27, 2014 |
| PSAT1 | 1 | Jan 24, 2022 |
| PSMB8 | 3 | Jan 25, 2022 |
| PSMD12 | 1 | Jan 25, 2022 |
| PTCH1 | 26 | Oct 9, 2025 |
| PTCHD1 | 17 | Jan 25, 2022 |
| PTEN | 59 | Mar 9, 2023 |
| PTF1A | 5 | Jan 25, 2022 |
| PTH | 1 | Jan 25, 2022 |
| PTH1R | 2 | Mar 9, 2023 |
| PTPN11 | 21 | Oct 9, 2025 |
| PTPRJ | 4 | Mar 9, 2023 |
| PTS | 1 | Jul 5, 2017 |
| PURA | 6 | Jan 25, 2022 |
| PYCR2 | 8 | Jan 25, 2022 |
| PYGM | 1 | Jan 25, 2022 |
| QARS1 | 3 | Mar 9, 2023 |
| QDPR | 2 | Jan 24, 2022 |
| R3HDML-AS1 | 13 | Jan 25, 2022 |
| RAB18 | 6 | Jan 25, 2022 |
| RAB23 | 2 | Jul 5, 2017 |
| RAB27A | 2 | Jul 5, 2017 |
| RAB39B | 5 | Jul 5, 2017 |
| RAB3GAP1 | 31 | Jan 25, 2022 |
| RAB3GAP2 | 34 | Jan 25, 2022 |
| RAB9B | 6 | Jan 25, 2022 |
| RAC1 | 1 | Jan 24, 2022 |
| RAD21 | 14 | Jan 23, 2022 |
| RAD50 | 16 | Jan 25, 2022 |
| RAD51 | 13 | Jan 25, 2022 |
| RAD51C | 21 | Oct 9, 2025 |
| RAD51D | 14 | Mar 9, 2023 |
| RAD51L3-RFFL | 14 | Mar 9, 2023 |
| RAI1 | 84 | Oct 9, 2025 |
| RAPSN | 7 | Jan 25, 2022 |
| RARS2 | 18 | Oct 9, 2025 |
| RASGRP1 | 5 | Mar 9, 2023 |
| RB1 | 4 | Mar 9, 2023 |
| RBBP6 | 29 | Oct 9, 2025 |
| RBBP8 | 30 | Mar 9, 2023 |
| RBM10 | 1 | Jul 5, 2017 |
| RBM8A | 8 | Feb 18, 2022 |
| RECQL4 | 76 | Oct 9, 2025 |
| REEP1 | 1 | Jun 27, 2014 |
| RELN | 121 | Jan 25, 2022 |
| REN | 1 | Jan 25, 2022 |
| RERE | 1 | Mar 9, 2023 |
| RET | 45 | Oct 9, 2025 |
| RFT1 | 1 | Jan 24, 2022 |
| RFWD3 | 1 | Oct 9, 2025 |
| RFX4-AS1 | 2 | Sep 15, 2015 |
| RFX6 | 23 | Oct 9, 2025 |
| RIF1 | 22 | Jan 24, 2022 |
| RIN2 | 17 | Jan 25, 2022 |
| RIPK4 | 7 | Oct 9, 2025 |
| RIT1 | 1 | Jan 25, 2022 |
| RLIG1 | 1 | Jun 27, 2014 |
| RLIM | 1 | Jul 5, 2017 |
| RMND5B | 4 | Jan 25, 2022 |
| RNASEH1 | 1 | Jan 23, 2022 |
| RNASEH2B | 1 | Oct 9, 2025 |
| RNASET2 | 1 | Jul 5, 2017 |
| RNF125 | 1 | Jul 5, 2017 |
| RNF135 | 4 | Jan 25, 2022 |
| RNF17 | 9 | Sep 15, 2015 |
| RNF170 | 1 | Apr 30, 2014 |
| RNF216 | 2 | Sep 15, 2015 |
| RNF43 | 4 | Jan 25, 2022 |
| RNU4ATAC | 2 | Jan 25, 2022 |
| ROGDI | 1 | Jun 27, 2014 |
| ROR2 | 22 | Oct 9, 2025 |
| RP1L1 | 1 | Jan 24, 2022 |
| RPGRIP1L | 29 | Oct 9, 2025 |
| RPL10 | 2 | Jun 27, 2014 |
| RPL11 | 4 | Oct 9, 2025 |
| RPL15 | 8 | Mar 9, 2023 |
| RPL23 | 2 | Jan 25, 2022 |
| RPL26 | 2 | Mar 9, 2023 |
| RPL27 | 2 | Mar 9, 2023 |
| RPL31 | 1 | Jan 25, 2022 |
| RPL35 | 1 | Mar 9, 2023 |
| RPL35A | 2 | Jul 5, 2017 |
| RPL5 | 19 | Oct 9, 2025 |
| RPS10 | 6 | Jan 25, 2022 |
| RPS10-NUDT3 | 6 | Jan 25, 2022 |
| RPS17 | 1 | Mar 9, 2023 |
| RPS19 | 14 | Oct 9, 2025 |
| RPS24 | 9 | Jan 25, 2022 |
| RPS26 | 7 | Jan 25, 2022 |
| RPS27 | 1 | Jan 25, 2022 |
| RPS6KA3 | 14 | Jan 25, 2022 |
| RPS7 | 5 | Jan 25, 2022 |
| RRM2B | 1 | Jan 24, 2022 |
| RS1 | 10 | Jan 25, 2022 |
| RSPO1 | 1 | Jan 25, 2022 |
| RTEL1 | 77 | Oct 9, 2025 |
| RTEL1-TNFRSF6B | 77 | Oct 9, 2025 |
| RTN2 | 1 | Jun 27, 2014 |
| RTN4IP1 | 1 | Jan 23, 2022 |
| RTTN | 71 | Jan 25, 2022 |
| RUBCN | 4 | Jun 27, 2014 |
| RUNX1 | 45 | Oct 9, 2025 |
| RUNX1-AS1 | 5 | Jan 25, 2022 |
| RUNX2 | 4 | Jan 25, 2022 |
| RUVBL1 | 1 | Mar 9, 2023 |
| RXYLT1 | 3 | Jul 5, 2017 |
| RYR1 | 174 | Jan 25, 2022 |
| RYR2 | 1 | Jan 24, 2022 |
| SACS | 24 | Jan 25, 2022 |
| SALL1 | 5 | Jan 25, 2022 |
| SALL4 | 1 | Jan 23, 2022 |
| SAMD9 | 104 | Oct 9, 2025 |
| SAMD9L | 78 | Oct 9, 2025 |
| SASS6 | 7 | Jan 25, 2022 |
| SATB2 | 3 | Jan 25, 2022 |
| SBDS | 12 | Oct 9, 2025 |
| SBF2 | 35 | Jan 25, 2022 |
| SBF2-AS1 | 10 | Jan 25, 2022 |
| SCAMP4 | 15 | Jan 25, 2022 |
| SCARB2 | 1 | Jan 25, 2022 |
| SCARF2 | 6 | Oct 9, 2025 |
| SCN11A | 1 | Jul 5, 2017 |
| SCN1A | 39 | Jan 25, 2022 |
| SCN1A-AS1 | 27 | Jul 5, 2017 |
| SCN1B | 7 | Jul 5, 2017 |
| SCN2A | 72 | Jan 25, 2022 |
| SCN4A | 31 | Jan 25, 2022 |
| SCN5A | 1 | Jan 23, 2022 |
| SCN8A | 26 | Jan 25, 2022 |
| SCN9A | 30 | Jul 5, 2017 |
| SCNN1B | 2 | Mar 9, 2023 |
| SCNN1G | 1 | Oct 9, 2025 |
| SCO2 | 2 | Jun 27, 2014 |
| SDCCAG8 | 17 | Jan 25, 2022 |
| SDHA | 43 | Oct 9, 2025 |
| SDHAF2 | 5 | Jan 25, 2022 |
| SDHB | 9 | Jan 25, 2022 |
| SDHC | 4 | Jan 25, 2022 |
| SDHD | 10 | Mar 9, 2023 |
| SEC23B | 1 | Jan 25, 2022 |
| SEC61A1 | 1 | Mar 9, 2023 |
| SEC63 | 1 | Mar 9, 2023 |
| SELENON | 12 | Oct 4, 2017 |
| SEMA3A | 4 | Oct 9, 2025 |
| SEPSECS | 8 | Mar 6, 2020 |
| SEPT5-GP1BB | 6 | Oct 9, 2025 |
| SERPING1 | 1 | Mar 9, 2023 |
| SETBP1 | 30 | Mar 9, 2023 |
| SETD2 | 24 | Jan 25, 2022 |
| SETD5 | 21 | Jan 25, 2022 |
| SETX | 13 | Oct 9, 2025 |
| SF3B4 | 10 | Jan 25, 2022 |
| SFTA3 | 2 | Mar 6, 2020 |
| SFXN4 | 1 | Jul 5, 2017 |
| SGCA | 5 | Jul 5, 2017 |
| SGCB | 2 | Jan 25, 2022 |
| SGCD | 3 | Jun 27, 2014 |
| SGCE | 1 | Jul 5, 2017 |
| SGCG | 6 | Jan 25, 2022 |
| SGPL1 | 2 | Mar 9, 2023 |
| SH2B1 | 2 | Jan 25, 2022 |
| SH2B3 | 13 | Mar 9, 2023 |
| SH2D1A | 3 | Jan 25, 2022 |
| SH3TC2 | 7 | Jan 24, 2022 |
| SHANK2 | 44 | Jan 25, 2022 |
| SHANK3 | 18 | Jan 25, 2022 |
| SHH | 1 | Jul 5, 2017 |
| SHLD2 | 1 | Jan 25, 2022 |
| SHOC2 | 1 | Sep 15, 2015 |
| SHROOM4 | 30 | Dec 5, 2022 |
| SIL1 | 2 | Jan 25, 2022 |
| SIM1 | 9 | Jan 25, 2022 |
| SIM1-AS1 | 2 | Jan 25, 2022 |
| SIN3A | 4 | Jan 25, 2022 |
| SIX5 | 7 | Oct 9, 2025 |
| SKI | 3 | Jan 25, 2022 |
| SLA | 1 | Jul 5, 2017 |
| SLC12A1 | 1 | Mar 9, 2023 |
| SLC12A6 | 19 | Jul 5, 2017 |
| SLC13A5 | 3 | Jan 25, 2022 |
| SLC16A1 | 17 | Mar 9, 2023 |
| SLC16A2 | 28 | Jan 25, 2022 |
| SLC17A5 | 2 | Jan 24, 2022 |
| SLC19A1 | 9 | Jan 25, 2022 |
| SLC19A2 | 5 | Mar 9, 2023 |
| SLC19A3 | 10 | Jan 24, 2022 |
| SLC1A1 | 1 | Sep 15, 2015 |
| SLC1A2 | 1 | Jan 25, 2022 |
| SLC1A3 | 2 | Jul 5, 2017 |
| SLC1A3-AS1 | 2 | Jul 5, 2017 |
| SLC1A4 | 6 | Mar 9, 2023 |
| SLC20A2 | 3 | Jan 23, 2022 |
| SLC24A5 | 4 | Jan 25, 2022 |
| SLC25A1 | 9 | Jan 25, 2022 |
| SLC25A19 | 14 | Jan 25, 2022 |
| SLC25A22 | 20 | Jul 5, 2017 |
| SLC26A2 | 1 | Jul 5, 2017 |
| SLC26A4 | 3 | Jan 25, 2022 |
| SLC26A5-AS1 | 19 | Jan 25, 2022 |
| SLC29A3 | 16 | Sep 15, 2015 |
| SLC2A1 | 46 | Jan 25, 2022 |
| SLC2A2 | 7 | Jan 25, 2022 |
| SLC30A6 | 1 | Jan 25, 2022 |
| SLC33A1 | 1 | Jan 23, 2022 |
| SLC34A1 | 1 | Mar 9, 2023 |
| SLC34A3 | 3 | Jul 5, 2017 |
| SLC35A1 | 1 | Jun 27, 2014 |
| SLC35D2-HSD17B3 | 8 | Jan 25, 2022 |
| SLC36A1 | 2 | Jan 23, 2022 |
| SLC3A1 | 3 | Mar 9, 2023 |
| SLC45A2 | 15 | Jan 25, 2022 |
| SLC4A1 | 1 | Mar 9, 2023 |
| SLC4A4 | 2 | Oct 9, 2025 |
| SLC52A2 | 1 | Sep 15, 2015 |
| SLC6A1 | 1 | Jan 24, 2022 |
| SLC6A17 | 14 | Jan 25, 2022 |
| SLC6A17-AS1 | 1 | Jan 25, 2022 |
| SLC6A19 | 5 | Jul 5, 2017 |
| SLC6A8 | 24 | Jan 25, 2022 |
| SLC9A6 | 25 | Jan 25, 2022 |
| SLFN14 | 6 | Jan 25, 2022 |
| SLX4 | 154 | Oct 9, 2025 |
| SMAD4 | 15 | Oct 9, 2025 |
| SMAD6 | 1 | Jul 5, 2017 |
| SMARCA2 | 41 | Jan 25, 2022 |
| SMARCA4 | 83 | Mar 9, 2023 |
| SMARCB1 | 10 | Jan 25, 2022 |
| SMARCC2 | 1 | Jan 25, 2022 |
| SMARCE1 | 4 | Jan 25, 2022 |
| SMC1A | 44 | Jan 25, 2022 |
| SMC3 | 36 | Jan 25, 2022 |
| SMC5 | 1 | Mar 9, 2023 |
| SMPD1 | 2 | Oct 9, 2025 |
| SMPD4 | 3 | Oct 9, 2025 |
| SMS | 3 | Sep 15, 2015 |
| SNAP29 | 10 | Jan 25, 2022 |
| SNHG14 | 79 | Mar 9, 2023 |
| SNHG8 | 1 | Oct 4, 2017 |
| SOBP | 34 | Jan 25, 2022 |
| SOD1 | 1 | Jul 5, 2017 |
| SON | 4 | Jan 25, 2022 |
| SOS1 | 5 | Jan 25, 2022 |
| SOX11 | 7 | Jan 25, 2022 |
| SOX2 | 1 | Jan 25, 2022 |
| SOX2-OT | 1 | Jan 25, 2022 |
| SOX3 | 2 | Jan 25, 2022 |
| SOX9 | 3 | Mar 9, 2023 |
| SPART | 1 | Jun 27, 2014 |
| SPAST | 4 | Jan 24, 2022 |
| SPATA22 | 1 | Jan 24, 2022 |
| SPATA6L | 1 | Sep 15, 2015 |
| SPECC1L | 11 | Oct 9, 2025 |
| SPECC1L-ADORA2A | 11 | Oct 9, 2025 |
| SPEG | 6 | Oct 9, 2025 |
| SPG11 | 14 | Oct 9, 2025 |
| SPG7 | 19 | Mar 9, 2023 |
| SPR | 1 | Mar 9, 2023 |
| SPRED1 | 1 | Jan 25, 2022 |
| SPTAN1 | 77 | Jan 25, 2022 |
| SPTBN2 | 12 | Jan 25, 2022 |
| SQSTM1 | 1 | Jan 24, 2022 |
| SRC | 6 | Jan 25, 2022 |
| SRCAP | 14 | Mar 9, 2023 |
| SRD5A2 | 12 | Oct 9, 2025 |
| SRD5A3 | 4 | Jul 5, 2017 |
| SRD5A3-AS1 | 1 | Sep 15, 2015 |
| SRP54 | 4 | Oct 9, 2025 |
| SRP72 | 52 | Oct 9, 2025 |
| SRPX2 | 16 | Jan 25, 2022 |
| SRY | 4 | Oct 9, 2025 |
| SSUH2 | 2 | Jun 27, 2014 |
| ST3GAL3 | 25 | Jan 25, 2022 |
| ST3GAL4 | 23 | Mar 6, 2020 |
| ST3GAL5 | 4 | Jul 5, 2017 |
| STAC3 | 1 | Jan 25, 2022 |
| STAMBP | 17 | Jan 25, 2022 |
| STAR | 2 | Jan 25, 2022 |
| STAT1 | 3 | Jan 25, 2022 |
| STAT3 | 7 | Oct 9, 2025 |
| STIL | 39 | Jan 25, 2022 |
| STK11 | 18 | Mar 9, 2023 |
| STON1-GTF2A1L | 9 | Oct 9, 2025 |
| STRADA | 3 | Jan 25, 2022 |
| STUB1 | 9 | Oct 9, 2025 |
| STX16 | 2 | Jan 25, 2022 |
| STX16-NPEPL1 | 2 | Jan 25, 2022 |
| STXBP1 | 30 | Dec 5, 2022 |
| STXBP2 | 16 | Oct 9, 2025 |
| SUCLA2 | 1 | Mar 9, 2023 |
| SUCLG1 | 1 | Sep 15, 2015 |
| SUFU | 6 | Mar 9, 2023 |
| SUOX | 2 | Jan 25, 2022 |
| SURF1 | 1 | Jul 5, 2017 |
| SUZ12 | 1 | Mar 9, 2023 |
| SVIL | 1 | Mar 9, 2023 |
| SYN1 | 22 | Jan 25, 2022 |
| SYNE1 | 119 | Oct 9, 2025 |
| SYNE1-AS1 | 1 | Jul 5, 2017 |
| SYNE2 | 77 | Jan 25, 2022 |
| SYNGAP1 | 46 | Jan 25, 2022 |
| SYNGAP1-AS1 | 35 | Jan 25, 2022 |
| SYP | 4 | Jan 25, 2022 |
| SYP-AS1 | 1 | Sep 15, 2015 |
| SYT14 | 2 | Sep 15, 2015 |
| SZT2 | 21 | Jan 25, 2022 |
| TACR3 | 6 | Mar 9, 2023 |
| TACR3-AS1 | 4 | Jan 25, 2022 |
| TAF2 | 9 | Jan 25, 2022 |
| TBC1D20 | 5 | Jan 25, 2022 |
| TBC1D23 | 3 | Jan 25, 2022 |
| TBC1D24 | 22 | Jan 25, 2022 |
| TBC1D4 | 32 | Jan 25, 2022 |
| TBC1D7 | 3 | Jan 25, 2022 |
| TBC1D7-LOC100130357 | 3 | Jan 25, 2022 |
| TBCD | 1 | Jan 23, 2022 |
| TBCE | 4 | Jan 25, 2022 |
| TBL1XR1 | 1 | Jan 25, 2022 |
| TBP | 5 | Sep 15, 2015 |
| TBX1 | 2 | Jan 25, 2022 |
| TBX15 | 2 | Mar 9, 2023 |
| TCAP | 4 | Oct 4, 2017 |
| TCF12 | 3 | Jul 5, 2017 |
| TCF20 | 5 | Jan 25, 2022 |
| TCF4 | 53 | Jan 25, 2022 |
| TCF4-AS1 | 3 | Jan 25, 2022 |
| TCOF1 | 21 | Jan 25, 2022 |
| TCTN1 | 12 | Oct 9, 2025 |
| TCTN2 | 24 | Mar 9, 2023 |
| TCTN3 | 11 | Oct 9, 2025 |
| TECR | 15 | Mar 6, 2020 |
| TELO2 | 3 | Jan 23, 2022 |
| TERC | 25 | Oct 9, 2025 |
| TERF2IP | 1 | Mar 9, 2023 |
| TERT | 155 | Oct 9, 2025 |
| TET2 | 32 | Oct 9, 2025 |
| TET2-AS1 | 32 | Oct 9, 2025 |
| TFG | 3 | Mar 9, 2023 |
| TG | 13 | Oct 9, 2025 |
| TGFBR1 | 1 | Jan 25, 2022 |
| TGFBR2 | 1 | Jul 5, 2017 |
| TGM1 | 1 | Jan 25, 2022 |
| TGM6 | 6 | Jan 25, 2022 |
| TH2LCRR | 1 | Jan 25, 2022 |
| THAP1 | 1 | Jan 24, 2022 |
| THBD | 4 | Jan 25, 2022 |
| THG1L | 1 | Jan 24, 2022 |
| THRA | 2 | Jan 25, 2022 |
| THRB | 5 | Oct 9, 2025 |
| TIA1 | 1 | Mar 9, 2023 |
| TIMM50 | 1 | Jan 23, 2022 |
| TIMMDC1 | 1 | Jan 23, 2022 |
| TINF2 | 26 | Mar 9, 2023 |
| TMC6 | 1 | Oct 9, 2025 |
| TMEM127 | 6 | Oct 9, 2025 |
| TMEM138 | 2 | Jul 5, 2017 |
| TMEM186 | 6 | Jan 25, 2022 |
| TMEM216 | 3 | Jan 24, 2022 |
| TMEM231 | 12 | Oct 9, 2025 |
| TMEM237 | 4 | Sep 15, 2015 |
| TMEM240 | 2 | Jul 5, 2017 |
| TMEM43 | 6 | Jan 25, 2022 |
| TMEM67 | 25 | Oct 9, 2025 |
| TMEM70 | 5 | Oct 9, 2025 |
| TMEM94 | 2 | Jan 25, 2022 |
| TMPPE | 2 | Jun 27, 2014 |
| TMPRSS3 | 1 | Jul 5, 2017 |
| TNFRSF13B | 6 | Oct 9, 2025 |
| TNFRSF9 | 2 | Jan 25, 2022 |
| TNNI2 | 7 | Jul 5, 2017 |
| TNNI3 | 2 | Jun 27, 2014 |
| TNNT1 | 4 | Jul 5, 2017 |
| TNNT3 | 7 | Jul 5, 2017 |
| TNXB | 3 | Jan 25, 2022 |
| TOE1 | 9 | Oct 9, 2025 |
| TOP3A | 2 | Oct 9, 2025 |
| TP53 | 51 | Oct 9, 2025 |
| TP53BP1 | 4 | Dec 5, 2022 |
| TPM2 | 3 | Jul 5, 2017 |
| TPM3 | 2 | Sep 15, 2015 |
| TPO | 6 | Oct 9, 2025 |
| TPP1 | 12 | Mar 6, 2020 |
| TPRKB | 1 | Jan 23, 2022 |
| TRAIP | 2 | Jan 25, 2022 |
| TRAPPC11 | 1 | Jul 5, 2017 |
| TRAPPC9 | 122 | Dec 5, 2022 |
| TREX1 | 1 | Oct 9, 2025 |
| TRIM32 | 5 | Mar 9, 2023 |
| TRIM37 | 3 | Jan 25, 2022 |
| TRIO | 11 | Jan 25, 2022 |
| TRMT10A | 12 | Oct 9, 2025 |
| TRNT1 | 3 | Mar 6, 2020 |
| TRPC6 | 2 | Oct 9, 2025 |
| TRPM6 | 1 | Oct 9, 2025 |
| TSC1 | 22 | Oct 9, 2025 |
| TSC2 | 76 | Oct 9, 2025 |
| TSEN2 | 35 | Jan 25, 2022 |
| TSEN34 | 12 | Jan 25, 2022 |
| TSEN54 | 46 | Dec 5, 2022 |
| TSHB | 1 | Dec 5, 2022 |
| TSHR | 4 | Jan 25, 2022 |
| TSHR-AS1 | 4 | Jan 25, 2022 |
| TSPAN1 | 16 | Jan 25, 2022 |
| TSPAN31 | 3 | Jan 25, 2022 |
| TSPAN7 | 8 | Jan 25, 2022 |
| TSPYL1 | 2 | Mar 9, 2023 |
| TSTD3 | 12 | Mar 9, 2023 |
| TTBK2 | 4 | Oct 9, 2025 |
| TTC19 | 3 | Jan 24, 2022 |
| TTC21B | 28 | Oct 9, 2025 |
| TTC21B-AS1 | 4 | Oct 4, 2017 |
| TTC36-AS1 | 1 | Sep 15, 2015 |
| TTC8 | 7 | Jan 25, 2022 |
| TTI2 | 15 | Jan 25, 2022 |
| TTN | 455 | Mar 9, 2023 |
| TTN-AS1 | 234 | Mar 9, 2023 |
| TTPA | 2 | Mar 9, 2023 |
| TTR | 5 | Oct 9, 2025 |
| TUBA1A | 52 | Jan 25, 2022 |
| TUBA8 | 11 | Oct 4, 2017 |
| TUBB | 2 | Jan 25, 2022 |
| TUBB1 | 14 | Oct 9, 2025 |
| TUBB2A | 6 | Jan 25, 2022 |
| TUBB2B | 21 | Jan 25, 2022 |
| TUBB3 | 28 | Jan 25, 2022 |
| TUBB4A | 3 | Jan 25, 2022 |
| TUBG1 | 7 | Jan 25, 2022 |
| TUBGCP2 | 2 | Mar 9, 2023 |
| TUBGCP4 | 17 | Dec 5, 2022 |
| TUBGCP6 | 57 | Mar 9, 2023 |
| TUSC3 | 12 | Jan 25, 2022 |
| TWIST1 | 2 | Jan 25, 2022 |
| TYMP | 3 | Jul 5, 2017 |
| TYR | 49 | Oct 9, 2025 |
| TYRP1 | 17 | Jan 25, 2022 |
| UACA | 1 | Jul 5, 2017 |
| UBA5 | 1 | Jan 24, 2022 |
| UBE2A | 1 | Jul 5, 2017 |
| UBE2T | 3 | Jan 25, 2022 |
| UBE3A | 79 | Mar 9, 2023 |
| UBR1 | 8 | Jan 25, 2022 |
| UCP2 | 21 | Mar 9, 2023 |
| UCP3 | 10 | Mar 9, 2023 |
| UGT1A | 36 | Jan 25, 2022 |
| UGT1A1 | 36 | Jan 25, 2022 |
| UGT1A10 | 36 | Jan 25, 2022 |
| UGT1A3 | 36 | Jan 25, 2022 |
| UGT1A4 | 36 | Jan 25, 2022 |
| UGT1A5 | 36 | Jan 25, 2022 |
| UGT1A6 | 36 | Jan 25, 2022 |
| UGT1A7 | 36 | Jan 25, 2022 |
| UGT1A8 | 36 | Jan 25, 2022 |
| UGT1A9 | 36 | Jan 25, 2022 |
| UIMC1 | 1 | Jul 5, 2017 |
| UMOD | 5 | Oct 9, 2025 |
| UNC13D | 27 | Oct 9, 2025 |
| UPF3B | 6 | Jul 5, 2017 |
| UROC1 | 3 | Sep 15, 2015 |
| USB1 | 15 | Oct 9, 2025 |
| USH1G | 1 | Jan 24, 2022 |
| USP45 | 12 | Mar 9, 2023 |
| USP9X | 2 | Jan 25, 2022 |
| UTP23 | 1 | Sep 11, 2014 |
| VARS1 | 2 | Jan 23, 2022 |
| VARS2 | 1 | Oct 9, 2025 |
| VDR | 3 | Jan 25, 2022 |
| VHL | 17 | Oct 9, 2025 |
| VLDLR | 57 | Jan 25, 2022 |
| VLDLR-AS1 | 8 | Jan 25, 2022 |
| VPS13A | 1 | Oct 9, 2025 |
| VPS13B | 146 | Mar 9, 2023 |
| VPS13D | 2 | Jan 25, 2022 |
| VPS33B | 1 | Jul 5, 2017 |
| VPS45 | 22 | Mar 9, 2023 |
| VPS53 | 3 | Jan 25, 2022 |
| VRK1 | 6 | Jul 5, 2017 |
| VRK2 | 11 | Mar 9, 2023 |
| VWF | 31 | Oct 9, 2025 |
| WARS2 | 2 | Jan 24, 2022 |
| WAS | 22 | Mar 9, 2023 |
| WASHC4 | 21 | Jan 25, 2022 |
| WASHC5 | 4 | Jan 23, 2022 |
| WDPCP | 8 | Oct 9, 2025 |
| WDR11 | 3 | Oct 9, 2025 |
| WDR19 | 10 | Oct 9, 2025 |
| WDR26 | 1 | Jan 23, 2022 |
| WDR35 | 7 | Jul 5, 2017 |
| WDR45 | 10 | Jan 25, 2022 |
| WDR62 | 133 | Jan 25, 2022 |
| WDR81 | 17 | Oct 9, 2025 |
| WFS1 | 54 | Mar 9, 2023 |
| WNK4 | 2 | Oct 9, 2025 |
| WNT4 | 1 | Jan 25, 2022 |
| WNT5A | 7 | Oct 4, 2017 |
| WRAP53 | 31 | Oct 9, 2025 |
| WRN | 32 | Oct 9, 2025 |
| WT1 | 12 | Jan 25, 2022 |
| WWOX | 24 | Mar 9, 2023 |
| XDH | 1 | Mar 9, 2023 |
| XPNPEP3 | 1 | Mar 9, 2023 |
| XRCC2 | 11 | Oct 9, 2025 |
| XRCC3 | 3 | Jan 25, 2022 |
| ZBTB20 | 5 | Jan 25, 2022 |
| ZBTB20-AS1 | 1 | Jan 25, 2022 |
| ZC3H14 | 25 | Jan 25, 2022 |
| ZDHHC15 | 9 | Jan 25, 2022 |
| ZDHHC24 | 16 | Jan 25, 2022 |
| ZDHHC9 | 2 | Jan 25, 2022 |
| ZEB1 | 1 | Jul 5, 2017 |
| ZEB2 | 66 | Jan 25, 2022 |
| ZFP57 | 16 | Mar 9, 2023 |
| ZFPM2 | 12 | Jan 25, 2022 |
| ZFPM2-AS1 | 11 | Jan 25, 2022 |
| ZFYVE26 | 11 | Jan 24, 2022 |
| ZFYVE27 | 4 | Sep 15, 2015 |
| ZIC2 | 3 | Jan 25, 2022 |
| ZIC4 | 1 | Jun 27, 2014 |
| ZMPSTE24 | 5 | Oct 9, 2025 |
| ZMYND11 | 5 | Jan 25, 2022 |
| ZNF276 | 19 | Mar 9, 2023 |
| ZNF335 | 58 | Jan 25, 2022 |
| ZNF407 | 82 | Jan 25, 2022 |
| ZNF41 | 2 | Jun 27, 2014 |
| ZNF423 | 3 | Mar 9, 2023 |
| ZNF431 | 3 | Jan 25, 2022 |
| ZNF469 | 5 | Jan 23, 2022 |
| ZNF526 | 25 | Jan 25, 2022 |
| ZNF592 | 3 | Sep 15, 2015 |
| ZNF674 | 6 | Jun 27, 2014 |
| ZNF711 | 10 | Jan 25, 2022 |
| ZNF81 | 18 | Jan 25, 2022 |
| ZRANB3 | 6 | Mar 6, 2020 |
| ZSWIM6 | 2 | Jan 25, 2022 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 1 test |
| 3-M syndrome | 1 test |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 test |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 1 test |
| 3-methylglutaconic aciduria type 1 | 2 tests |
| 3-methylglutaconic aciduria, type VIIB | 1 test |
| 46,XX sex reversal 1 | 1 test |
| 46,XX sex reversal 4 | 1 test |
| 46,XY disorder of sex development | 2 tests |
| 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis | 1 test |
| 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 1 test |
| 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | 1 test |
| 46,XY sex reversal 1 | 2 tests |
| 46,XY sex reversal 2 | 1 test |
| 46,XY sex reversal 6 | 2 tests |
| 46,XY sex reversal 7 | 2 tests |
| 46,XY sex reversal 9 | 2 tests |
| ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL | 1 test |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2 tests |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 1 test |
| ADan amyloidosis | 1 test |
| AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB | 1 test |
| Abdominal obesity-metabolic syndrome 3 | 2 tests |
| Acquired hemoglobin H disease | 1 test |
| Acquired partial lipodystrophy | 3 tests |
| Acrocallosal syndrome | 1 test |
| Acrodysostosis 1 with or without hormone resistance | 2 tests |
| Acrodysostosis 2 with or without hormone resistance | 2 tests |
| Acromelic frontonasal dysostosis | 1 test |
| Actin accumulation myopathy | 3 tests |
| Action myoclonus-renal failure syndrome | 1 test |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 test |
| Acute myeloid leukemia | 5 tests |
| Adenylosuccinate lyase deficiency | 2 tests |
| Adrenal hypoplasia, congenital, with precocious puberty | 1 test |
| Adrenoleukodystrophy | 2 tests |
| Agenesis of the corpus callosum with peripheral neuropathy | 1 test |
| Aicardi Goutieres syndrome | 1 test |
| Aicardi-Goutieres syndrome 7 | 1 test |
| Alagille syndrome due to a JAG1 point mutation | 1 test |
| Alagille syndrome due to a NOTCH2 point mutation | 1 test |
| Albinism | 1 test |
| Albright hereditary osteodystrophy | 1 test |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 test |
| Alexander disease | 1 test |
| Allan-Herndon-Dudley syndrome | 4 tests |
| Alpha mannosidosis type II | 1 test |
| Alpha thalassemia-X-linked intellectual disability syndrome | 4 tests |
| Alpha-methylacyl-CoA racemase deficiency | 1 test |
| Alpha-thalassemia/intellectual disability syndrome | 1 test |
| Alstrom syndrome | 1 test |
| Alternating hemiplegia of childhood | 2 tests |
| Alzheimer disease 3 | 1 test |
| Alzheimer disease, familial, 3, with spastic paraparesis and apraxia | 1 test |
| Amelocerebrohypohidrotic syndrome | 1 test |
| Aminoacylase 1 deficiency | 1 test |
| Amish lethal microcephaly | 1 test |
| Amyotrophic lateral sclerosis type 1 | 1 test |
| Androgen resistance syndrome | 2 tests |
| Angelman syndrome | 7 tests |
| Aniridia 1 | 2 tests |
| Antley-Bixler syndrome | 1 test |
| Aplastic anemia | 1 test |
| Argininosuccinate lyase deficiency | 1 test |
| Aromatase deficiency | 2 tests |
| Aromatase excess syndrome | 1 test |
| Arthrogryposis, distal, type 1A | 1 test |
| Arthrogryposis, distal, type 1B | 1 test |
| Arthrogryposis, distal, with impaired proprioception and touch | 1 test |
| Arthrogryposis-like hand anomaly-sensorineural deafness syndrome | 1 test |
| Asphyxiating thoracic dystrophy 3 | 2 tests |
| Asphyxiating thoracic dystrophy 5 | 1 test |
| Ataxia | 1 test |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 test |
| Ataxia - oculomotor apraxia type 4 | 2 tests |
| Ataxia with oculomotor apraxia type 3 | 1 test |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
| Ataxia-pancytopenia syndrome | 5 tests |
| Ataxia-telangiectasia syndrome | 2 tests |
| Ataxia-telangiectasia-like disorder | 1 test |
| Atypical hemolytic-uremic syndrome | 1 test |
| Autoimmune disease | 1 test |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 1 test |
| Autoimmune lymphoproliferative syndrome type 2A | 1 test |
| Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia | 1 test |
| Autosomal dominant Kenny-Caffey syndrome | 1 test |
| Autosomal dominant Opitz G/BBB syndrome | 1 test |
| Autosomal dominant aplasia and myelodysplasia | 1 test |
| Autosomal dominant centronuclear myopathy | 3 tests |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 2 tests |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 test |
| Autosomal dominant polycystic kidney disease | 2 tests |
| Autosomal dominant polycystic liver disease | 1 test |
| Autosomal recessive DOPA responsive dystonia | 2 tests |
| Autosomal recessive Dejerine-Sottas syndrome | 1 test |
| Autosomal recessive Kenny-Caffey syndrome | 1 test |
| Autosomal recessive Robinow syndrome | 3 tests |
| Autosomal recessive ataxia due to ubiquinone deficiency | 1 test |
| Autosomal recessive ataxia, Beauce type | 1 test |
| Autosomal recessive infantile hypercalcemia | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 66 | 1 test |
| Autosomal recessive polycystic kidney disease | 2 tests |
| Autosomal recessive primary microcephaly | 1 test |
| Autosomal recessive spastic paraplegia type 76 | 1 test |
| Autosomal recessive spastic paraplegia type 78 | 1 test |
| Autosomal recessive spinocerebellar ataxia 10 | 1 test |
| Autosomal recessive spinocerebellar ataxia 11 | 1 test |
| Autosomal recessive spinocerebellar ataxia 12 | 1 test |
| Autosomal recessive spinocerebellar ataxia 13 | 1 test |
| Autosomal recessive spinocerebellar ataxia 15 | 1 test |
| Autosomal recessive spinocerebellar ataxia 16 | 1 test |
| Autosomal recessive spinocerebellar ataxia 17 | 1 test |
| Autosomal recessive spinocerebellar ataxia 18 | 1 test |
| Autosomal recessive spinocerebellar ataxia 2 | 1 test |
| Autosomal recessive spinocerebellar ataxia 20 | 1 test |
| Azorean disease | 1 test |
| Bailey-Bloch congenital myopathy | 2 tests |
| Baller-Gerold syndrome | 1 test |
| Bamforth-Lazarus syndrome | 1 test |
| Band heterotopia of brain | 1 test |
| Baraitser-winter syndrome 2 | 1 test |
| Bardet-Biedl syndrome | 4 tests |
| Bardet-Biedl syndrome 11 | 2 tests |
| Bardet-Biedl syndrome 13 | 1 test |
| Bardet-Biedl syndrome 6 | 1 test |
| Bartsocas-Papas syndrome 1 | 1 test |
| Basal ganglia calcification, idiopathic, 6 | 1 test |
| Beckwith-Wiedemann syndrome | 2 tests |
| Benign hereditary chorea | 1 test |
| Bernard Soulier syndrome | 1 test |
| Beta-thalassemia-X-linked thrombocytopenia syndrome | 2 tests |
| Bethlem myopathy 1A | 2 tests |
| Bethlem myopathy 2 | 2 tests |
| Bilateral frontoparietal polymicrogyria | 2 tests |
| Biotin-responsive basal ganglia disease | 2 tests |
| Biotinidase deficiency | 1 test |
| Bloom syndrome | 2 tests |
| Bone marrow failure syndrome 3 | 2 tests |
| Bone marrow failure syndrome 5 | 1 test |
| Borjeson-Forssman-Lehmann syndrome | 2 tests |
| Brain small vessel disease 1 with or without ocular anomalies | 1 test |
| Brain-lung-thyroid syndrome | 1 test |
| Branchiootorenal Spectrum Disorder | 1 test |
| Breast and/or ovarian cancer | 3 tests |
| Breast cancer, susceptibility to | 3 tests |
| Breast neoplasm | 5 tests |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 test |
| C syndrome | 1 test |
| C3 DEFICIENCY | 1 test |
| CADDS | 1 test |
| CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL | 1 test |
| CARASIL syndrome | 1 test |
| CEDNIK syndrome | 1 test |
| CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | 1 test |
| CHARGE syndrome | 4 tests |
| CHEK2-related cancer predisposition | 1 test |
| CHIME syndrome | 1 test |
| Carcinoma of colon | 1 test |
| Carcinoma of pancreas | 1 test |
| Cardiac valvular dysplasia, X-linked | 1 test |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 1 test |
| Carney complex | 1 test |
| Carney-Stratakis syndrome | 1 test |
| Carpenter syndrome | 1 test |
| Cayman type cerebellar ataxia | 1 test |
| Central core myopathy | 3 tests |
| Central hypothyroidism | 1 test |
| Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | 1 test |
| Cerebellar ataxia and hypergonadotropic hypogonadism | 1 test |
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | 2 tests |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 1 test |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 1 test |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 test |
| Cerebellar ataxia-hypogonadism syndrome | 1 test |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 test |
| Cerebral creatine deficiency syndrome | 2 tests |
| Cerebral folate transport deficiency | 2 tests |
| Cernunnos-XLF deficiency | 1 test |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 test |
| Ceroid lipofuscinosis, neuronal, 6A | 1 test |
| Charcot-Marie-Tooth disease | 1 test |
| Charcot-Marie-Tooth disease type 2B1 | 1 test |
| Charlevoix-Saguenay spastic ataxia | 2 tests |
| Child syndrome | 1 test |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2 tests |
| Childhood onset GLUT1 deficiency syndrome 2 | 2 tests |
| Cholestanol storage disease | 2 tests |
| Christianson syndrome | 3 tests |
| Chronic mucocutaneous candidiasis | 1 test |
| Chédiak-Higashi syndrome | 1 test |
| Citrullinemia type I | 1 test |
| Classic Hodgkin lymphoma | 1 test |
| Cleidocranial dysostosis | 1 test |
| Coats plus syndrome | 2 tests |
| Cobblestone lissencephaly without muscular or ocular involvement | 1 test |
| Cockayne syndrome | 1 test |
| Coenzyme Q10 deficiency | 1 test |
| Coenzyme Q10 deficiency, primary, 1 | 1 test |
| Coffin-Siris syndrome | 1 test |
| Coffin-Siris syndrome 1 | 2 tests |
| Coffin-Siris syndrome 5 | 1 test |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 2 tests |
| Cognitive impairment with or without cerebellar ataxia | 1 test |
| Cohen syndrome | 1 test |
| Cohen-Gibson syndrome | 1 test |
| Cole-Carpenter syndrome 2 | 1 test |
| Collagen IV-related nephropathies | 1 test |
| Colorectal cancer | 4 tests |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 1 test |
| Colorectal cancer, susceptibility to, 12 | 1 test |
| Combined immunodeficiency | 1 test |
| Combined immunodeficiency due to LRBA deficiency | 2 tests |
| Combined oxidative phosphorylation defect type 14 | 1 test |
| Combined oxidative phosphorylation deficiency | 1 test |
| Combined pituitary hormone deficiencies, genetic form | 1 test |
| Common variable immunodeficiency | 1 test |
| Complex cortical dysplasia with other brain malformations | 1 test |
| Complex cortical dysplasia with other brain malformations 1 | 1 test |
| Complex cortical dysplasia with other brain malformations 2 | 1 test |
| Complex cortical dysplasia with other brain malformations 4 | 1 test |
| Complex cortical dysplasia with other brain malformations 6 | 2 tests |
| Compton-North congenital myopathy | 3 tests |
| Congenital adrenal hyperplasia | 2 tests |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 test |
| Congenital adrenal hypoplasia, X-linked | 1 test |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 2 tests |
| Congenital amegakaryocytic thrombocytopenia | 3 tests |
| Congenital bile acid synthesis defect 3 | 1 test |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 test |
| Congenital cerebellar hypoplasia | 1 test |
| Congenital contractural arachnodactyly | 1 test |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 2 tests |
| Congenital defect of folate absorption | 1 test |
| Congenital disorder of glycosylation | 5 tests |
| Congenital disorder of glycosylation type 1E | 2 tests |
| Congenital dyserythropoietic anemia, type II | 1 test |
| Congenital generalized lipodystrophy type 1 | 3 tests |
| Congenital generalized lipodystrophy type 2 | 4 tests |
| Congenital generalized lipodystrophy type 3 | 4 tests |
| Congenital generalized lipodystrophy type 4 | 2 tests |
| Congenital hyperammonemia, type I | 1 test |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 test |
| Congenital multicore myopathy with external ophthalmoplegia | 3 tests |
| Congenital muscular dystrophy due to LMNA mutation | 2 tests |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2 tests |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | 2 tests |
| Congenital myasthenic syndrome | 3 tests |
| Congenital myasthenic syndrome 10 | 2 tests |
| Congenital myasthenic syndrome 12 | 3 tests |
| Congenital myasthenic syndrome 13 | 3 tests |
| Congenital myasthenic syndrome 14 | 3 tests |
| Congenital myasthenic syndrome 15 | 1 test |
| Congenital myasthenic syndrome 16 | 3 tests |
| Congenital myasthenic syndrome 18 | 1 test |
| Congenital myasthenic syndrome 19 | 2 tests |
| Congenital myasthenic syndrome 4A | 2 tests |
| Congenital myasthenic syndrome 4C | 3 tests |
| Congenital myasthenic syndrome 5 | 3 tests |
| Congenital myasthenic syndrome 7 | 2 tests |
| Congenital myasthenic syndrome 8 | 2 tests |
| Congenital myopathy | 3 tests |
| Congenital myopathy 23 | 3 tests |
| Congenital myopathy 4B, autosomal recessive | 1 test |
| Congenital myopathy with fiber type disproportion | 2 tests |
| Congenital myopathy with internal nuclei and atypical cores | 3 tests |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 test |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 test |
| Cortical dysplasia-focal epilepsy syndrome | 1 test |
| Cowden syndrome | 5 tests |
| Cranioectodermal dysplasia | 1 test |
| Cranioectodermal dysplasia 4 | 1 test |
| Craniofrontonasal syndrome | 3 tests |
| Craniosynostosis 6 | 2 tests |
| Craniosynostosis and dental anomalies | 1 test |
| Craniosynostosis syndrome | 1 test |
| Crigler-Najjar syndrome | 1 test |
| Cryptophthalmos syndrome | 1 test |
| Currarino triad | 1 test |
| Curry-Hall syndrome | 1 test |
| Cutis laxa | 1 test |
| Cyclical neutropenia | 1 test |
| Cystic leukoencephalopathy without megalencephaly | 1 test |
| Cytochrome c oxidase I deficiency | 1 test |
| D-2-hydroxyglutaric aciduria | 1 test |
| D-2-hydroxyglutaric aciduria 2 | 1 test |
| DDX41-related hematologic malignancy predisposition syndrome | 1 test |
| DICER1-related tumor predisposition | 1 test |
| DNA ligase IV deficiency | 3 tests |
| DOORS syndrome | 2 tests |
| DPM3-congenital disorder of glycosylation | 2 tests |
| DYRK1A-related intellectual disability syndrome | 4 tests |
| Dandy-Walker syndrome | 1 test |
| Danon disease | 2 tests |
| De Lange syndrome | 2 tests |
| Deafness dystonia syndrome | 1 test |
| Deficiency of adenosine deaminase 2 | 1 test |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 test |
| Deficiency of ferroxidase | 1 test |
| Deficiency of steroid 11-beta-monooxygenase | 1 test |
| Deficiency of steroid 17-alpha-monooxygenase | 2 tests |
| Dentatorubral-pallidoluysian atrophy | 1 test |
| Desmin-related myofibrillar myopathy | 2 tests |
| Desmosterolosis | 1 test |
| Developmental and epileptic encephalopathy | 4 tests |
| Developmental and epileptic encephalopathy 94 | 3 tests |
| Developmental and epileptic encephalopathy, 1 | 1 test |
| Developmental and epileptic encephalopathy, 11 | 2 tests |
| Developmental and epileptic encephalopathy, 12 | 2 tests |
| Developmental and epileptic encephalopathy, 13 | 2 tests |
| Developmental and epileptic encephalopathy, 14 | 2 tests |
| Developmental and epileptic encephalopathy, 15 | 2 tests |
| Developmental and epileptic encephalopathy, 16 | 3 tests |
| Developmental and epileptic encephalopathy, 17 | 1 test |
| Developmental and epileptic encephalopathy, 18 | 2 tests |
| Developmental and epileptic encephalopathy, 19 | 2 tests |
| Developmental and epileptic encephalopathy, 2 | 3 tests |
| Developmental and epileptic encephalopathy, 21 | 2 tests |
| Developmental and epileptic encephalopathy, 24 | 2 tests |
| Developmental and epileptic encephalopathy, 25 | 2 tests |
| Developmental and epileptic encephalopathy, 26 | 2 tests |
| Developmental and epileptic encephalopathy, 27 | 2 tests |
| Developmental and epileptic encephalopathy, 28 | 3 tests |
| Developmental and epileptic encephalopathy, 29 | 1 test |
| Developmental and epileptic encephalopathy, 31A | 2 tests |
| Developmental and epileptic encephalopathy, 32 | 2 tests |
| Developmental and epileptic encephalopathy, 4 | 2 tests |
| Developmental and epileptic encephalopathy, 44 | 1 test |
| Developmental and epileptic encephalopathy, 5 | 2 tests |
| Developmental and epileptic encephalopathy, 51 | 1 test |
| Developmental and epileptic encephalopathy, 7 | 2 tests |
| Developmental and epileptic encephalopathy, 8 | 2 tests |
| Developmental and epileptic encephalopathy, 9 | 3 tests |
| Developmental delay with autism spectrum disorder and gait instability | 2 tests |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 1 test |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 test |
| DiGeorge syndrome | 1 test |
| Diabetes mellitus | 2 tests |
| Diabetes mellitus, transient neonatal, 1 | 1 test |
| Diamond-Blackfan anemia | 3 tests |
| Diamond-Blackfan anemia 1 | 1 test |
| Diamond-Blackfan anemia 10 | 1 test |
| Diamond-Blackfan anemia 11 | 2 tests |
| Diamond-Blackfan anemia 12 | 2 tests |
| Diamond-Blackfan anemia 3 | 1 test |
| Diamond-Blackfan anemia 5 | 1 test |
| Diamond-Blackfan anemia 6 | 1 test |
| Diamond-Blackfan anemia 7 | 1 test |
| Diamond-Blackfan anemia 8 | 2 tests |
| Diamond-Blackfan anemia 9 | 1 test |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 test |
| Dihydropteridine reductase deficiency | 1 test |
| Dilated cardiomyopathy 1A | 2 tests |
| Dilated cardiomyopathy 1G | 1 test |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 1 test |
| Distal arthrogryposis | 1 test |
| Distal arthrogryposis type 2B1 | 1 test |
| Distal arthrogryposis type 5D | 1 test |
| Donnai-Barrow syndrome | 1 test |
| Dopa-responsive dystonia | 1 test |
| Down syndrome | 2 tests |
| Drash syndrome | 3 tests |
| Dyskeratosis congenita | 5 tests |
| Dyskeratosis congenita, autosomal dominant 6 | 3 tests |
| Dyskeratosis congenita, autosomal recessive 1 | 1 test |
| Dyskeratosis congenita, autosomal recessive 5 | 2 tests |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 test |
| Dystonia 16 | 1 test |
| Dystonia 24 | 1 test |
| Dystonia 25 | 1 test |
| Dystonia 28, childhood-onset | 1 test |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 2 tests |
| Dystonic disorder | 3 tests |
| EAST syndrome | 1 test |
| Early myoclonic encephalopathy | 2 tests |
| Early-onset Lafora body disease | 1 test |
| Early-onset myopathy with fatal cardiomyopathy | 1 test |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 1 test |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 test |
| Ehlers-Danlos syndrome | 3 tests |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2 tests |
| Ehlers-Danlos syndrome, musculocontractural type | 3 tests |
| Eichsfeld type congenital muscular dystrophy | 2 tests |
| Emery-Dreifuss muscular dystrophy | 2 tests |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 tests |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 2 tests |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2 tests |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2 tests |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 2 tests |
| Encephalopathy due to GLUT1 deficiency | 3 tests |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 test |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 1 test |
| Endocrine-cerebro-osteodysplasia syndrome | 1 test |
| Epilepsy | 2 tests |
| Epilepsy with myoclonic atonic seizures | 1 test |
| Epilepsy, childhood absence, susceptibility to, 5 | 2 tests |
| Ethylmalonic encephalopathy | 3 tests |
| Exercise-induced hyperinsulinism | 1 test |
| Exudative vitreoretinopathy 7 | 1 test |
| FAS-related autoimmune lymphoproliferative syndrome | 1 test |
| FG syndrome 1 | 3 tests |
| FG syndrome 2 | 1 test |
| FOXG1 disorder | 3 tests |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 1 test |
| Familial adenomatous polyposis 1 | 2 tests |
| Familial adenomatous polyposis 2 | 3 tests |
| Familial cancer of breast | 5 tests |
| Familial hemiplegic migraine | 1 test |
| Familial hemophagocytic lymphohistiocytosis | 1 test |
| Familial hemophagocytic lymphohistiocytosis 5 | 1 test |
| Familial hyperinsulinism | 2 tests |
| Familial hypocalciuric hypercalcemia 1 | 1 test |
| Familial hypocalciuric hypercalcemia 2 | 1 test |
| Familial hypoparathyroidism | 1 test |
| Familial infantile myasthenia | 1 test |
| Familial infantile myoclonic epilepsy | 3 tests |
| Familial isolated deficiency of vitamin E | 1 test |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 test |
| Familial melanoma | 2 tests |
| Familial multiple polyposis syndrome | 3 tests |
| Familial partial lipodystrophy | 3 tests |
| Familial partial lipodystrophy, Dunnigan type | 3 tests |
| Familial partial lipodystrophy, Kobberling type | 3 tests |
| Familial thoracic aortic aneurysm and aortic dissection | 1 test |
| Familial thyroid dyshormonogenesis | 1 test |
| Fanconi anemia | 3 tests |
| Fanconi anemia complementation group A | 1 test |
| Fanconi anemia complementation group B | 1 test |
| Fanconi anemia complementation group C | 1 test |
| Fanconi anemia complementation group D1 | 1 test |
| Fanconi anemia complementation group D2 | 1 test |
| Fanconi anemia complementation group E | 1 test |
| Fanconi anemia complementation group F | 1 test |
| Fanconi anemia complementation group G | 1 test |
| Fanconi anemia complementation group I | 1 test |
| Fanconi anemia complementation group J | 2 tests |
| Fanconi anemia complementation group L | 1 test |
| Fanconi anemia complementation group N | 4 tests |
| Fanconi anemia complementation group O | 3 tests |
| Fanconi anemia complementation group P | 1 test |
| Fanconi anemia complementation group Q | 1 test |
| Fanconi anemia complementation group R | 2 tests |
| Fanconi anemia complementation group T | 2 tests |
| Fanconi anemia complementation group U | 1 test |
| Fanconi anemia, complementation group S | 1 test |
| Feingold syndrome | 1 test |
| Floating-Harbor syndrome | 1 test |
| Focal segmental glomerulosclerosis | 1 test |
| Fragile X-associated tremor/ataxia syndrome | 2 tests |
| Freeman-Sheldon syndrome | 1 test |
| Friedreich ataxia | 2 tests |
| Friedreich ataxia 1 | 1 test |
| Friedreich ataxia 2 | 1 test |
| Frontometaphyseal dysplasia | 1 test |
| Frontonasal dysplasia | 1 test |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 1 test |
| Frontonasal dysplasia with alopecia and genital anomaly | 1 test |
| Frontorhiny | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 2 tests |
| Fucosidosis | 1 test |
| Fumarase deficiency | 1 test |
| GALACTOSIALIDOSIS, ADULT | 1 test |
| GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 3 tests |
| GM1 gangliosidosis | 1 test |
| GM1 gangliosidosis type 3 | 1 test |
| GM2-gangliosidosis, B, B1, AB variant | 1 test |
| GM3 synthase deficiency | 2 tests |
| GNE myopathy | 2 tests |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 test |
| Galactosylceramide beta-galactosidase deficiency | 1 test |
| Galloway-Mowat syndrome 1 | 1 test |
| Gamma-glutamylcysteine synthetase deficiency | 1 test |
| Gastrointestinal stromal tumor | 1 test |
| Gaucher disease due to saposin C deficiency | 1 test |
| Generalized epilepsy with febrile seizures plus, type 2 | 3 tests |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 test |
| Generalized juvenile polyposis/juvenile polyposis coli | 3 tests |
| Giant axonal neuropathy 1 | 1 test |
| Gilbert syndrome | 1 test |
| Glanzmann thrombasthenia | 1 test |
| Glucocorticoid deficiency with achalasia | 1 test |
| Glutaric aciduria, type 1 | 1 test |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 1 test |
| Glycogen storage disease | 2 tests |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 test |
| Glycogen storage disease, type II | 2 tests |
| Glycogen storage disease, type IV | 1 test |
| Glycogen storage disease, type V | 2 tests |
| Goldberg-Shprintzen syndrome | 2 tests |
| Gray platelet syndrome | 1 test |
| Greig cephalopolysyndactyly syndrome | 2 tests |
| Griscelli syndrome type 1 | 1 test |
| Griscelli syndrome type 2 | 1 test |
| Griscelli syndrome type 3 | 1 test |
| Hand-foot-genital syndrome | 1 test |
| Hecht syndrome | 1 test |
| Hemolytic anemia | 1 test |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 1 test |
| Hemolytic-uremic syndrome | 1 test |
| Hereditary acrodermatitis enteropathica | 1 test |
| Hereditary amyloidosis | 1 test |
| Hereditary breast ovarian cancer syndrome | 8 tests |
| Hereditary diffuse gastric adenocarcinoma | 3 tests |
| Hereditary diffuse leukoencephalopathy with spheroids | 1 test |
| Hereditary episodic ataxia | 1 test |
| Hereditary hemorrhagic telangiectasia | 1 test |
| Hereditary hyperferritinemia with congenital cataracts | 1 test |
| Hereditary nonpolyposis colon cancer | 7 tests |
| Hereditary pheochromocytoma and paraganglioma | 2 tests |
| Hereditary sideroblastic anemia | 2 tests |
| Hereditary spastic paraplegia | 1 test |
| Hereditary spastic paraplegia 17 | 1 test |
| Hereditary spastic paraplegia 26 | 1 test |
| Hereditary spastic paraplegia 35 | 1 test |
| Hereditary spastic paraplegia 56 | 1 test |
| Hereditary spastic paraplegia 57 | 1 test |
| Hereditary spastic paraplegia 62 | 1 test |
| Hereditary spastic paraplegia 75 | 1 test |
| Hereditary spastic paraplegia 77 | 1 test |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 1 test |
| Hermansky-Pudlak syndrome | 1 test |
| Heterotopia, periventricular, X-linked dominant | 1 test |
| Holocarboxylase synthetase deficiency | 1 test |
| Holoprosencephaly sequence | 1 test |
| Homocystinuria | 1 test |
| Houge-Janssens syndrome 1 | 1 test |
| Hoyeraal-Hreidarsson syndrome | 1 test |
| Hydrocephalus | 1 test |
| Hydrolethalus syndrome 2 | 1 test |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 1 test |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 test |
| Hyperinsulinemic hypoglycemia, familial, 3 | 2 tests |
| Hyperinsulinemic hypoglycemia, familial, 4 | 1 test |
| Hyperinsulinism due to INSR deficiency | 1 test |
| Hyperinsulinism-hyperammonemia syndrome | 1 test |
| Hyperkalemic periodic paralysis | 1 test |
| Hypermanganesemia with dystonia 2 | 1 test |
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 1 test |
| Hyperparathyroidism | 1 test |
| Hyperphenylalaninemia due to DNAJC12 deficiency | 1 test |
| Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency | 2 tests |
| Hypertensive disorder | 1 test |
| Hypertrichosis cubiti-short stature syndrome | 1 test |
| Hypertrophic cardiomyopathy | 2 tests |
| Hypertrophic cardiomyopathy 9 | 1 test |
| Hypobetalipoproteinemia | 1 test |
| Hypocalcemia | 1 test |
| Hypocalcemia, autosomal dominant, with Bartter syndrome | 1 test |
| Hypoceruloplasminemia | 2 tests |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 10 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 12 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 18 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 20 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 22 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 2 tests |
| Hypoinsulinemic hypoglycemia and body hemihypertrophy | 3 tests |
| Hypoparathyroidism | 1 test |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 1 test |
| Hypophosphatemic rickets | 2 tests |
| Hypospadias 2, X-linked | 1 test |
| Hypothyroidism, congenital, nongoitrous, 2 | 1 test |
| Hypotonia | 1 test |
| Hypotonia, ataxia, and delayed development syndrome | 1 test |
| IMAGe syndrome | 2 tests |
| Idiopathic Pulmonary Fibrosis | 2 tests |
| Idiopathic basal ganglia calcification 1 | 1 test |
| Immunodeficiency 11b with atopic dermatitis | 1 test |
| Immunodeficiency 14 | 1 test |
| Immunodeficiency 23 | 1 test |
| Immunodeficiency, common variable, 2 | 1 test |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | 2 tests |
| Infantile bilateral striatal necrosis | 2 tests |
| Infantile cerebellar-retinal degeneration | 1 test |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 test |
| Infantile convulsions and choreoathetosis | 1 test |
| Infantile neuroaxonal dystrophy | 2 tests |
| Infantile onset spinocerebellar ataxia | 1 test |
| Infantile-onset ascending hereditary spastic paralysis | 2 tests |
| Inherited bone marrow failure syndrome | 1 test |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 test |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 test |
| Intellectual developmental disorder with autism and macrocephaly | 1 test |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 1 test |
| Intellectual disability | 1 test |
| Intellectual disability, CASK-related, X-linked | 2 tests |
| Intellectual disability, X-linked, syndromic, 35 | 2 tests |
| Intellectual disability, X-linked, syndromic, Bain type | 1 test |
| Intellectual disability, X-linked, with or without seizures, ARX-related | 1 test |
| Intellectual disability, autosomal dominant 1 | 2 tests |
| Intellectual disability, autosomal dominant 13 | 2 tests |
| Intellectual disability, autosomal dominant 40 | 1 test |
| Intellectual disability, autosomal dominant 42 | 1 test |
| Intellectual disability, autosomal dominant 43 | 1 test |
| Intellectual disability, autosomal dominant 5 | 2 tests |
| Intellectual disability, autosomal recessive 13 | 2 tests |
| Intellectual disability, autosomal recessive 34 | 1 test |
| Intellectual disability, autosomal recessive 43 | 2 tests |
| Intellectual disability, autosomal recessive 46 | 1 test |
| Intellectual disability, autosomal recessive 53 | 1 test |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 1 test |
| Irinotecan response | 1 test |
| Johanson-Blizzard syndrome | 2 tests |
| Joubert syndrome | 5 tests |
| Joubert syndrome 1 | 1 test |
| Joubert syndrome 10 | 2 tests |
| Joubert syndrome 13 | 1 test |
| Joubert syndrome 14 | 1 test |
| Joubert syndrome 15 | 2 tests |
| Joubert syndrome 16 | 1 test |
| Joubert syndrome 17 | 1 test |
| Joubert syndrome 18 | 3 tests |
| Joubert syndrome 2 | 1 test |
| Joubert syndrome 20 | 1 test |
| Joubert syndrome 21 | 2 tests |
| Joubert syndrome 22 | 1 test |
| Joubert syndrome 23 | 1 test |
| Joubert syndrome 3 | 1 test |
| Joubert syndrome 5 | 1 test |
| Joubert syndrome 6 | 1 test |
| Joubert syndrome 7 | 1 test |
| Joubert syndrome 8 | 1 test |
| Joubert syndrome 9 | 1 test |
| Joubert syndrome with renal defect | 1 test |
| Juberg-Marsidi syndrome | 1 test |
| Juvenile (Subacute) Hexosaminidase A Deficiency | 1 test |
| Juvenile myelomonocytic leukemia | 1 test |
| Juvenile myoclonic epilepsy | 2 tests |
| Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 2 tests |
| KBG syndrome | 2 tests |
| Kabuki syndrome | 2 tests |
| Kabuki syndrome 1 | 1 test |
| Keppen-Lubinsky syndrome | 3 tests |
| Kleefstra syndrome 1 | 1 test |
| Knobloch syndrome | 1 test |
| Kufor-Rakeb syndrome | 3 tests |
| L-2-hydroxyglutaric aciduria | 3 tests |
| LEOPARD syndrome 1 | 1 test |
| LIPE-related familial partial lipodystrophy | 2 tests |
| Landau-Kleffner syndrome | 2 tests |
| Leigh syndrome | 2 tests |
| Lesch-Nyhan syndrome | 1 test |
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 2 tests |
| Lethal osteosclerotic bone dysplasia | 1 test |
| Leukemia, acute lymphoblastic, susceptibility to | 1 test |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 1 test |
| Leukodystrophy | 2 tests |
| Leukoencephalopathy | 1 test |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 1 test |
| Leukoencephalopathy, progressive, with ovarian failure | 2 tests |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 1 test |
| Leydig cell agenesis | 2 tests |
| Leydig cell hypoplasia, type II | 1 test |
| Li-Fraumeni syndrome | 8 tests |
| Li-fraumeni-like syndrome | 1 test |
| Lichtenstein-Knorr syndrome | 1 test |
| Limb-girdle muscular dystrophy | 3 tests |
| Limb-girdle muscular dystrophy due to POMK deficiency | 2 tests |
| Linear skin defects with multiple congenital anomalies 1 | 3 tests |
| Lipoyl transferase 1 deficiency | 1 test |
| Lissencephaly | 2 tests |
| Lissencephaly 4 | 2 tests |
| Lissencephaly 6 with microcephaly | 2 tests |
| Lissencephaly 7 with cerebellar hypoplasia | 1 test |
| Lissencephaly 8 | 1 test |
| Loeys-Dietz syndrome 2 | 1 test |
| Luscan-Lumish syndrome | 1 test |
| Lymphoma | 1 test |
| Lymphoma, non-Hodgkin, familial | 1 test |
| Lymphoproliferative syndrome 1 | 1 test |
| Lymphoproliferative syndrome 2 | 1 test |
| MEGF10-related myopathy | 2 tests |
| MEHMO syndrome | 1 test |
| MERRF syndrome | 1 test |
| MIRAGE syndrome | 4 tests |
| MYH7-related skeletal myopathy | 2 tests |
| Macrocephaly | 1 test |
| Macrocephaly and epileptic encephalopathy | 1 test |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 test |
| Macrocephaly, macrosomia, facial dysmorphism syndrome | 1 test |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 test |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 test |
| Malan overgrowth syndrome | 1 test |
| Malignant hyperthermia of anesthesia | 1 test |
| Malignant hyperthermia, susceptibility to, 1 | 2 tests |
| Malignant tumor of esophagus | 1 test |
| Malignant tumor of thyroid gland | 1 test |
| Mandibular hypoplasia-deafness-progeroid syndrome | 3 tests |
| Mandibuloacral dysplasia with type B lipodystrophy | 3 tests |
| Mandibulofacial dysostosis-microcephaly syndrome | 2 tests |
| Maple syrup urine disease | 1 test |
| Marinesco-Sjögren syndrome | 3 tests |
| Marshall-Smith syndrome | 1 test |
| Mast syndrome | 2 tests |
| Maturity-onset diabetes of the young | 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 2 | 2 tests |
| 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 |
| McKusick-Kaufman syndrome | 1 test |
| Meckel syndrome, type 1 | 2 tests |
| Meckel syndrome, type 10 | 2 tests |
| Meckel syndrome, type 11 | 1 test |
| Meckel syndrome, type 2 | 1 test |
| Meckel syndrome, type 3 | 1 test |
| Meckel syndrome, type 4 | 2 tests |
| Meckel syndrome, type 5 | 2 tests |
| Meckel syndrome, type 6 | 2 tests |
| Meckel syndrome, type 8 | 2 tests |
| Meckel syndrome, type 9 | 2 tests |
| Meckel-Gruber syndrome | 4 tests |
| Megaconial type congenital muscular dystrophy | 3 tests |
| Megalencephalic leukoencephalopathy with subcortical cysts | 3 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 test |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 test |
| Meier-Gorlin syndrome | 2 tests |
| Meier-Gorlin syndrome 2 | 1 test |
| Meier-Gorlin syndrome 3 | 1 test |
| Meier-Gorlin syndrome 4 | 1 test |
| Meier-Gorlin syndrome 5 | 1 test |
| Meier-Gorlin syndrome 7 | 1 test |
| Melanoma | 2 tests |
| Melnick-Needles syndrome | 1 test |
| Menkes kinky-hair syndrome | 1 test |
| Merosin deficient congenital muscular dystrophy | 3 tests |
| Metachromatic leukodystrophy | 2 tests |
| Metaphyseal chondrodysplasia, Jansen type | 1 test |
| Methemoglobinemia type 4 | 2 tests |
| Methylmalonic acidemia | 1 test |
| Mevalonic aciduria | 1 test |
| Microcephalic osteodysplastic primordial dwarfism type II | 2 tests |
| Microcephalic primordial dwarfism due to RTTN deficiency | 1 test |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 test |
| Microcephalic primordial dwarfism, Alazami type | 1 test |
| Microcephaly 1, primary, autosomal recessive | 1 test |
| Microcephaly 13, primary, autosomal recessive | 1 test |
| Microcephaly 14, primary, autosomal recessive | 1 test |
| Microcephaly 15, primary, autosomal recessive | 1 test |
| Microcephaly 17, primary, autosomal recessive | 2 tests |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2 tests |
| Microcephaly 3, primary, autosomal recessive | 1 test |
| Microcephaly 4, primary, autosomal recessive | 1 test |
| Microcephaly 5, primary, autosomal recessive | 2 tests |
| Microcephaly 6, primary, autosomal recessive | 1 test |
| Microcephaly 7, primary, autosomal recessive | 2 tests |
| Microcephaly 8, primary, autosomal recessive | 1 test |
| Microcephaly 9, primary, autosomal recessive | 1 test |
| Microcephaly and chorioretinopathy 1 | 1 test |
| Microcephaly and chorioretinopathy 2 | 2 tests |
| Microcephaly and chorioretinopathy 3 | 1 test |
| Microcephaly with Polymicrogyria | 1 test |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 test |
| Microcephaly, epilepsy, and diabetes syndrome | 1 test |
| Microcephaly, normal intelligence and immunodeficiency | 1 test |
| Microcephaly, seizures, and developmental delay | 4 tests |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 3 tests |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 2 tests |
| Microcephaly-capillary malformation syndrome | 1 test |
| Microphthalmia with brain and digit anomalies | 1 test |
| Miller syndrome | 1 test |
| Mismatch repair cancer syndrome 1 | 3 tests |
| Mitochondrial DNA depletion syndrome 1 | 1 test |
| Mitochondrial DNA depletion syndrome 13 | 1 test |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 test |
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) | 1 test |
| Mitochondrial DNA depletion syndrome 9 | 1 test |
| Mitochondrial complex I deficiency | 1 test |
| Mitochondrial complex II deficiency, nuclear type 1 | 1 test |
| Mitochondrial complex III deficiency | 1 test |
| Mitochondrial disease | 2 tests |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 1 test |
| Mitochondrial trifunctional protein deficiency | 1 test |
| Monogenic Non-Syndromic Obesity, Autosomal Recessive | 1 test |
| Motor developmental delay due to 14q32.2 paternally expressed gene defect | 1 test |
| Mowat-Wilson syndrome | 4 tests |
| Muir-Torré syndrome | 4 tests |
| Mullerian aplasia and hyperandrogenism | 2 tests |
| Multiminicore myopathy | 2 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 test |
| Multiple endocrine neoplasia type 2A | 1 test |
| Multiple endocrine neoplasia type 4 | 1 test |
| Multiple endocrine neoplasia, type 1 | 3 tests |
| Multiple endocrine neoplasia, type 2 | 3 tests |
| Multiple self-healing squamous epithelioma | 1 test |
| Multiple sulfatase deficiency | 1 test |
| Muscular dystrophy-dystroglycanopathy | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2 tests |
| Muscular dystrophy-dystroglycanopathy type B5 | 2 tests |
| Muscular dystrophy-dystroglycanopathy type B6 | 2 tests |
| Myasthenia, limb-girdle, autoimmune | 1 test |
| Myasthenic syndrome, congenital, 1B, fast-channel | 1 test |
| Myelodysplasia | 2 tests |
| Myelodysplastic syndrome | 4 tests |
| Myoclonic dystonia 26 | 1 test |
| Myoclonic epilepsy of Lafora 2 | 1 test |
| Myoclonus, familial, 1 | 1 test |
| Myofibrillar myopathy | 2 tests |
| Myofibrillar myopathy 2 | 2 tests |
| Myofibrillar myopathy 3 | 2 tests |
| Myofibrillar myopathy 4 | 2 tests |
| Myofibrillar myopathy 5 | 2 tests |
| Myofibrillar myopathy 6 | 2 tests |
| Myofibrillar myopathy 7 | 1 test |
| Myopathy, centronuclear, 2 | 1 test |
| Myopathy, centronuclear, 5 | 2 tests |
| Myopathy, congenital, with excess of muscle spindles | 3 tests |
| Myopathy, congenital, with fiber-type disproportion, X-linked | 1 test |
| Myopathy, myofibrillar, 9, with early respiratory failure | 3 tests |
| Myopathy, proximal, and ophthalmoplegia | 2 tests |
| Myopathy, tubular aggregate, 2 | 2 tests |
| Myosin storage myopathy | 1 test |
| N-acetylaspartate deficiency | 1 test |
| NPHP3-related Meckel-like syndrome | 1 test |
| Nager syndrome | 1 test |
| Nemaline myopathy | 2 tests |
| Nemaline myopathy 10 | 3 tests |
| Nemaline myopathy 2 | 3 tests |
| Nemaline myopathy 5 | 1 test |
| Nemaline myopathy 6 | 3 tests |
| Nemaline myopathy 7 | 3 tests |
| Nemaline myopathy 8 | 1 test |
| Nemaline myopathy 9 | 1 test |
| Neonatal diabetes mellitus | 3 tests |
| Neonatal diabetes mellitus with congenital hypothyroidism | 1 test |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 test |
| Nephronophthisis | 4 tests |
| Nephronophthisis 12 | 1 test |
| Nephronophthisis 14 | 1 test |
| Nephronophthisis 15 | 1 test |
| Nephronophthisis 16 | 1 test |
| Nephronophthisis 18 | 1 test |
| Nephronophthisis 19 | 1 test |
| Nephrotic syndrome | 2 tests |
| Nesidioblastosis | 1 test |
| Neu-Laxova syndrome 1 | 1 test |
| Neuroblastoma | 1 test |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 test |
| Neurodegeneration with brain iron accumulation | 3 tests |
| Neurodegeneration with brain iron accumulation 4 | 1 test |
| Neurodegeneration with brain iron accumulation 5 | 2 tests |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 1 test |
| Neuroferritinopathy | 1 test |
| Neurofibromatosis, type 1 | 1 test |
| Neurofibromatosis, type 2 | 1 test |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 1 test |
| Neuromuscular disease caused by qualitative or quantitative defects of dystrophin | 2 tests |
| Neuromuscular disease, congenital, with uniform type 1 fiber | 1 test |
| Neuronal ceroid lipofuscinosis | 2 tests |
| Neuronal ceroid lipofuscinosis 1 | 1 test |
| Neuronal ceroid lipofuscinosis 10 | 1 test |
| Neuronal ceroid lipofuscinosis 11 | 1 test |
| Neuronal ceroid lipofuscinosis 13 | 1 test |
| Neuronal ceroid lipofuscinosis 2 | 1 test |
| Neuronal ceroid lipofuscinosis 3 | 1 test |
| Neuronal ceroid lipofuscinosis 5 | 1 test |
| Neuronal ceroid lipofuscinosis 7 | 1 test |
| Neuronal ceroid lipofuscinosis 8 | 1 test |
| Neuropathy, congenital hypomyelinating, autosomal dominant | 1 test |
| Neuropathy, hereditary motor and sensory, type 6B | 1 test |
| Neutral 1 amino acid transport defect | 1 test |
| Nicolaides-Baraitser syndrome | 2 tests |
| Non-syndromic X-linked intellectual disability | 1 test |
| Nonimmune chronic idiopathic neutropenia of adults | 1 test |
| Noonan syndrome | 1 test |
| Noonan syndrome 1 | 1 test |
| Noonan syndrome-like disorder with loose anagen hair 2 | 1 test |
| Norman-Roberts syndrome | 1 test |
| Obesity | 2 tests |
| Obesity due to congenital leptin deficiency | 1 test |
| Obesity due to leptin receptor gene deficiency | 1 test |
| Obesity due to pro-opiomelanocortin deficiency | 1 test |
| Obesity, hyperphagia, and developmental delay | 1 test |
| Ocular albinism, type I | 1 test |
| Oculocutaneous albinism | 1 test |
| Oculocutaneous albinism type 7 | 2 tests |
| Oculodentodigital dysplasia | 2 tests |
| Oculofaciocardiodental syndrome | 1 test |
| Optic atrophy | 1 test |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 1 test |
| Optic atrophy 11 | 1 test |
| Ornithine carbamoyltransferase deficiency | 1 test |
| Orofacial-digital syndrome IV | 1 test |
| Orofaciodigital syndrome I | 2 tests |
| Osteocraniostenosis | 1 test |
| Osteodysplastic primordial dwarfism, type 1 | 1 test |
| Oto-palato-digital syndrome, type I | 1 test |
| Oto-palato-digital syndrome, type II | 1 test |
| Ovarian cancer | 3 tests |
| Ovarian dysgenesis 1 | 2 tests |
| Ovarian dysgenesis 2 | 2 tests |
| Ovarian dysgenesis 3 | 3 tests |
| PCWH syndrome | 1 test |
| PHARC syndrome | 1 test |
| PPARG-related familial partial lipodystrophy | 3 tests |
| PTEN hamartoma tumor syndrome | 4 tests |
| Palmoplantar hyperkeratosis and true hermaphroditism | 1 test |
| Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | 2 tests |
| Pancreatic agenesis 1 | 1 test |
| Pancytopenia due to IKZF1 mutations | 4 tests |
| Paris-Trousseau thrombocytopenia | 1 test |
| Parkinson disease | 1 test |
| Parkinsonism-dystonia, infantile | 1 test |
| Paroxysmal nonkinesigenic dyskinesia | 2 tests |
| Partial adenosine deaminase deficiency | 1 test |
| Partial androgen insensitivity syndrome | 2 tests |
| Paternal uniparental disomy of chromosome 14 | 1 test |
| Pelizaeus-Merzbacher disease | 2 tests |
| Pelviscapular dysplasia | 1 test |
| Pendred syndrome | 1 test |
| Periventricular heterotopia with microcephaly, autosomal recessive | 3 tests |
| Peroxisome biogenesis disorder | 1 test |
| Perrault syndrome 1 | 1 test |
| Perrault syndrome 3 | 1 test |
| Persistent Mullerian duct syndrome | 1 test |
| Peters plus syndrome | 3 tests |
| Pettigrew syndrome | 1 test |
| Peutz-Jeghers syndrome | 5 tests |
| Pheochromocytoma | 2 tests |
| Pheochromocytoma/paraganglioma syndrome 1 | 2 tests |
| Pheochromocytoma/paraganglioma syndrome 2 | 2 tests |
| Pheochromocytoma/paraganglioma syndrome 3 | 2 tests |
| Pheochromocytoma/paraganglioma syndrome 4 | 2 tests |
| Pheochromocytoma/paraganglioma syndrome 5 | 1 test |
| Phosphoribosylpyrophosphate synthetase superactivity | 1 test |
| Pitt-Hopkins syndrome | 4 tests |
| Pitt-Hopkins-like syndrome 2 | 1 test |
| Platelet-type bleeding disorder 15 | 1 test |
| Platelet-type bleeding disorder 16 | 1 test |
| Platelet-type bleeding disorder 17 | 1 test |
| Platelet-type bleeding disorder 19 | 1 test |
| Platelet-type bleeding disorder 20 | 1 test |
| Poikiloderma with neutropenia | 2 tests |
| Polycystic kidney disease 2 | 1 test |
| Polycystic kidney disease 3 with or without polycystic liver disease | 1 test |
| Polycystic kidney disease, adult type | 1 test |
| Polyendocrine-polyneuropathy syndrome | 1 test |
| Polyposis syndrome, hereditary mixed, 1 | 1 test |
| Pontocerebellar hypoplasia type 2 | 1 test |
| Pontoneocerebellar hypoplasia | 1 test |
| Popliteal pterygium syndrome | 1 test |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 test |
| Prader-Willi syndrome | 4 tests |
| Prader-Willi-like syndrome | 1 test |
| Premature ovarian failure | 2 tests |
| Premature ovarian failure 3 | 2 tests |
| Premature ovarian failure 5 | 2 tests |
| Premature ovarian failure 6 | 2 tests |
| Premature ovarian failure 7 | 2 tests |
| Premature ovarian failure 9 | 2 tests |
| Primary Familial Brain Calcification 5 | 1 test |
| Primrose syndrome | 2 tests |
| Profound intellectual disability | 4 tests |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 3 tests |
| Progressive external ophthalmoplegia | 3 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 1 test |
| Progressive myoclonic epilepsy | 1 test |
| Progressive myoclonic epilepsy type 3 | 1 test |
| Progressive myoclonic epilepsy type 5 | 1 test |
| Progressive myoclonic epilepsy type 6 | 1 test |
| Progressive myoclonic epilepsy type 7 | 1 test |
| Progressive myoclonic epilepsy type 9 | 1 test |
| Proximal myopathy with extrapyramidal signs | 1 test |
| Pseudohypoparathyroidism | 2 tests |
| Pseudohypoparathyroidism type 1B | 1 test |
| Pseudohypoparathyroidism type 1C | 1 test |
| Pseudopseudohypoparathyroidism | 2 tests |
| Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | 1 test |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 2 tests |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related | 1 test |
| Pure gonadal dysgenesis 46,XY | 1 test |
| Purine-nucleoside phosphorylase deficiency | 1 test |
| Pyridoxine-dependent epilepsy | 2 tests |
| Pyruvate dehydrogenase complex deficiency | 2 tests |
| RASopathy | 1 test |
| REFSUM DISEASE, ADULT, 1 | 1 test |
| RIDDLE syndrome | 1 test |
| RIN2 syndrome | 1 test |
| Radial aplasia-thrombocytopenia syndrome | 2 tests |
| Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | 1 test |
| Renal dysplasia and retinal aplasia | 1 test |
| Renal tubular dysgenesis | 1 test |
| Renpenning syndrome | 1 test |
| Retinitis pigmentosa 71 | 1 test |
| Rett syndrome | 5 tests |
| Rhabdoid tumor predisposition syndrome 2 | 1 test |
| Rhizomelic chondrodysplasia punctata type 1 | 1 test |
| Rhizomelic chondrodysplasia punctata type 2 | 1 test |
| Rhizomelic chondrodysplasia punctata type 3 | 1 test |
| Riboflavin transporter deficiency | 1 test |
| Rippling muscle disease 2 | 2 tests |
| Roberts-SC phocomelia syndrome | 3 tests |
| Robinow syndrome | 1 test |
| Rothmund-Thomson syndrome type 3 | 2 tests |
| Rubinstein-Taybi syndrome | 2 tests |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 test |
| SHORT syndrome | 4 tests |
| SRD5A3-congenital disorder of glycosylation | 1 test |
| STAT3-related early-onset multisystem autoimmune disease | 2 tests |
| Saldino-Mainzer syndrome | 1 test |
| Salla disease | 1 test |
| Sandhoff disease | 1 test |
| Sarcotubular myopathy | 2 tests |
| Schaaf-Yang syndrome | 1 test |
| Schinzel phocomelia syndrome | 1 test |
| Schinzel-Giedion syndrome | 2 tests |
| Sclerosteosis 2 | 1 test |
| Seckel syndrome | 2 tests |
| Seckel syndrome 2 | 1 test |
| Seckel syndrome 4 | 2 tests |
| Seckel syndrome 5 | 2 tests |
| Seckel syndrome 6 | 1 test |
| Seckel syndrome 7 | 1 test |
| Seckel syndrome 8 | 1 test |
| Seizures, benign familial infantile, 3 | 1 test |
| Seizures, benign familial infantile, 5 | 1 test |
| Seizures, benign familial neonatal, 3 | 1 test |
| Senior-Loken syndrome 8 | 1 test |
| Sensorineural deafness with mild renal dysfunction | 1 test |
| Severe X-linked myotubular myopathy | 3 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 test |
| Severe congenital neutropenia | 3 tests |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 test |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 test |
| Severe myoclonic epilepsy in infancy | 1 test |
| Severe neurodegenerative syndrome with lipodystrophy | 1 test |
| Shashi-Pena syndrome | 1 test |
| Short stature, microcephaly, and endocrine dysfunction | 1 test |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 test |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 test |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 1 test |
| Short-rib thoracic dysplasia 14 with polydactyly | 1 test |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 1 test |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 1 test |
| Shprintzen-Goldberg syndrome | 1 test |
| Shwachman syndrome | 2 tests |
| Sialidosis type 1 | 1 test |
| Sifrim-Hitz-Weiss syndrome | 1 test |
| Silver-Russell syndrome 1 | 1 test |
| Simpson-Golabi-Behmel syndrome type 1 | 1 test |
| Simpson-Golabi-Behmel syndrome type 2 | 1 test |
| Sitosterolemia | 1 test |
| Slow-Channel Congenital Myasthenia Syndrome | 1 test |
| Smith-Lemli-Opitz syndrome | 2 tests |
| Sotos syndrome | 2 tests |
| Spastic ataxia | 2 tests |
| Spastic ataxia 5 | 1 test |
| Spastic paraplegia | 2 tests |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 3 tests |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 2 tests |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 3 tests |
| Sphingomyelin/cholesterol lipidosis | 2 tests |
| Spinocerebellar ataxia 27B, late-onset | 2 tests |
| Spinocerebellar ataxia 43 | 1 test |
| Spinocerebellar ataxia 7 | 1 test |
| Spinocerebellar ataxia type 1 | 2 tests |
| Spinocerebellar ataxia type 10 | 1 test |
| Spinocerebellar ataxia type 11 | 1 test |
| Spinocerebellar ataxia type 12 | 1 test |
| Spinocerebellar ataxia type 13 | 1 test |
| Spinocerebellar ataxia type 14 | 1 test |
| Spinocerebellar ataxia type 15/16 | 1 test |
| Spinocerebellar ataxia type 17 | 1 test |
| Spinocerebellar ataxia type 19/22 | 1 test |
| Spinocerebellar ataxia type 2 | 1 test |
| Spinocerebellar ataxia type 21 | 1 test |
| Spinocerebellar ataxia type 23 | 1 test |
| Spinocerebellar ataxia type 26 | 1 test |
| Spinocerebellar ataxia type 27 | 1 test |
| Spinocerebellar ataxia type 28 | 1 test |
| Spinocerebellar ataxia type 31 | 1 test |
| Spinocerebellar ataxia type 35 | 1 test |
| Spinocerebellar ataxia type 38 | 1 test |
| Spinocerebellar ataxia type 40 | 1 test |
| Spinocerebellar ataxia type 41 | 1 test |
| Spinocerebellar ataxia type 42 | 1 test |
| Spinocerebellar ataxia type 5 | 1 test |
| Spinocerebellar ataxia type 6 | 1 test |
| Spinocerebellar ataxia type 8 | 1 test |
| Spinocerebellar ataxia, autosomal recessive 22 | 1 test |
| Spinocerebellar ataxia, autosomal recessive 23 | 1 test |
| Spinocerebellar ataxia, autosomal recessive 24 | 1 test |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy | 1 test |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 3 tests |
| Statin-induced myopathy | 2 tests |
| Sterol carrier protein 2 deficiency | 1 test |
| Striatonigral degeneration, childhood-onset | 1 test |
| Stromme syndrome | 1 test |
| Subcortical laminar heterotopia, X-linked | 1 test |
| Succinate-semialdehyde dehydrogenase deficiency | 1 test |
| Sudden infant death-dysgenesis of the testes syndrome | 1 test |
| Sulfite oxidase deficiency | 2 tests |
| Syndactyly-telecanthus-anogenital and renal malformations syndrome | 1 test |
| Syndromic X-linked intellectual disability 34 | 1 test |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 test |
| Syndromic X-linked intellectual disability Najm type | 4 tests |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 test |
| Tatton-Brown-Rahman overgrowth syndrome | 1 test |
| Tay-Sachs disease | 1 test |
| Tenorio syndrome | 1 test |
| Terminal osseous dysplasia-pigmentary defects syndrome | 1 test |
| Testicular anomalies with or without congenital heart disease | 2 tests |
| Testosterone 17-beta-dehydrogenase deficiency | 2 tests |
| Thrombocytopenia | 2 tests |
| Thrombocytopenia 1 | 1 test |
| Thrombocytopenia 2 | 3 tests |
| Thrombocytopenia 4 | 1 test |
| Thrombocytopenia 5 | 2 tests |
| Thyroid gland carcinoma | 1 test |
| Thyroid hormone resistance syndrome | 1 test |
| Tibial muscular dystrophy | 1 test |
| Torsion dystonia 2 | 1 test |
| Torsion dystonia 4 | 1 test |
| Torsion dystonia 6 | 1 test |
| Townes-Brocks syndrome 1 | 1 test |
| Transcobalamin II deficiency | 1 test |
| Transitory neonatal diabetes mellitus | 1 test |
| Treacher Collins syndrome | 1 test |
| Troyer syndrome | 2 tests |
| Tuberous sclerosis syndrome | 2 tests |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 1 test |
| Tumor predisposition syndrome 3 | 5 tests |
| Turcot syndrome | 1 test |
| Type 2 diabetes mellitus | 2 tests |
| Typical absence seizure | 2 tests |
| Ullrich congenital muscular dystrophy 1A | 2 tests |
| Upshaw-Schulman syndrome | 1 test |
| Urocanate hydratase deficiency | 1 test |
| Usher syndrome type 3B | 1 test |
| VPS13A-related neurodegenerative disease | 1 test |
| Van Maldergem syndrome 2 | 1 test |
| Van den Ende-Gupta syndrome | 1 test |
| Vanishing white matter disease | 1 test |
| Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | 1 test |
| Von Hippel-Lindau syndrome | 3 tests |
| Von Willebrand disease type 2B | 1 test |
| Waardenburg syndrome type 2A | 1 test |
| Walker-Warburg congenital muscular dystrophy | 1 test |
| Warburg micro syndrome | 1 test |
| Warburg micro syndrome 1 | 1 test |
| Warburg micro syndrome 4 | 1 test |
| Warts, hypogammaglobulinemia, infections, and myelokathexis | 3 tests |
| Weaver syndrome | 2 tests |
| Werner syndrome | 2 tests |
| West syndrome | 2 tests |
| Wilson disease | 3 tests |
| Wiskott-Aldrich syndrome | 1 test |
| Wolcott-Rallison dysplasia | 1 test |
| Wolfram syndrome | 2 tests |
| Wolfram syndrome 2 | 1 test |
| Woodhouse-Sakati syndrome | 1 test |
| X-linked Emery-Dreifuss muscular dystrophy | 2 tests |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 2 tests |
| X-linked erythropoietic protoporphyria | 1 test |
| X-linked hydrocephalus syndrome | 1 test |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 test |
| X-linked intellectual disability | 1 test |
| X-linked intellectual disability Cabezas type | 2 tests |
| X-linked intellectual disability, Cantagrel type | 2 tests |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 3 tests |
| X-linked lissencephaly with abnormal genitalia | 2 tests |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 test |
| X-linked progressive cerebellar ataxia | 1 test |
| X-linked severe congenital neutropenia | 1 test |
| X-linked sideroblastic anemia with ataxia | 1 test |
| XK-related neurodegenerative disease | 1 test |
| Xeroderma pigmentosum | 2 tests |
| Yunis-Varon syndrome | 1 test |