Greenwood Genetic Center Diagnostic Laboratories (Greenwood Genetic Center)
General information
Greenwood Genetic Center Diagnostic Laboratories
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood
South Carolina
United States - 29646
https://www.ggc.org/diagnostic-lab
Organization ID: 1019
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood
South Carolina
United States - 29646
https://www.ggc.org/diagnostic-lab
Organization ID: 1019
Personnel
- Julie Jones, Lab Director
Phone: 864-678-7885
Email: [email protected] - Raymond Caylor, Lab Director
Phone: 864-941-8171
Email: [email protected] - Alex Finley, Genetic Counselor
Phone: 864-941-8102
Email: [email protected] - Falecia Thomas, Genetic Counselor
Phone: 864-941-8190
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3392
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAAS | 2 | May 26, 2023 |
| AARS1 | 1 | Feb 10, 2022 |
| AASS | 1 | Feb 10, 2022 |
| ABCA1 | 1 | Feb 10, 2022 |
| ABCA2 | 3 | Jan 18, 2023 |
| ABCA3 | 1 | May 26, 2023 |
| ABCB4 | 1 | Feb 2, 2024 |
| ABCB6 | 1 | Feb 10, 2022 |
| ABCC6 | 3 | Oct 14, 2022 |
| ABCC8 | 2 | Dec 18, 2020 |
| ABCC9 | 1 | Apr 11, 2022 |
| ABCD1 | 3 | Feb 2, 2024 |
| ABR | 1 | Oct 17, 2023 |
| ACADM | 3 | Feb 2, 2024 |
| ACADS | 2 | Aug 20, 2024 |
| ACADVL | 4 | Aug 20, 2024 |
| ACAN | 1 | Oct 17, 2023 |
| ACAT1 | 1 | May 26, 2023 |
| ACIN1 | 1 | May 9, 2024 |
| ACOX1 | 3 | Feb 2, 2024 |
| ACSF3 | 4 | May 9, 2024 |
| ACSL4 | 3 | May 9, 2024 |
| ACTA1 | 3 | Apr 11, 2022 |
| ACTA2 | 3 | Aug 20, 2024 |
| ACTA2-AS1 | 1 | Aug 20, 2024 |
| ACTB | 2 | Jul 12, 2022 |
| ACTG1 | 1 | Oct 14, 2022 |
| ACVRL1 | 3 | Oct 14, 2022 |
| ADAM11 | 1 | May 9, 2024 |
| ADAMTS13 | 1 | Feb 10, 2022 |
| ADAMTSL1 | 1 | Jul 12, 2022 |
| ADAMTSL2 | 2 | Feb 10, 2022 |
| ADARB1 | 1 | May 26, 2023 |
| ADAT3 | 1 | Feb 10, 2022 |
| ADCY2 | 1 | Oct 14, 2022 |
| ADCY5 | 1 | Oct 17, 2023 |
| ADGRB3 | 1 | Aug 20, 2024 |
| ADGRL1 | 4 | May 9, 2024 |
| ADGRL1-AS1 | 4 | May 9, 2024 |
| ADGRV1 | 1 | Feb 10, 2022 |
| ADNP | 6 | Feb 2, 2024 |
| AFF2 | 2 | May 9, 2024 |
| AFF3 | 1 | Feb 10, 2022 |
| AFF4 | 2 | Feb 2, 2024 |
| AFG2A | 1 | Feb 10, 2022 |
| AGA | 2 | Jul 12, 2022 |
| AGA-DT | 1 | Jul 12, 2022 |
| AGAP2 | 1 | Oct 14, 2022 |
| AGBL1 | 1 | Feb 10, 2022 |
| AGL | 6 | Jul 17, 2023 |
| AGO1 | 4 | May 9, 2024 |
| AGO2 | 1 | Jul 12, 2022 |
| AGO3 | 1 | Dec 18, 2020 |
| AGTPBP1 | 1 | Dec 18, 2020 |
| AHCY | 1 | Feb 10, 2022 |
| AHDC1 | 3 | Jan 18, 2023 |
| AIFM1 | 1 | Apr 13, 2021 |
| AIMP1 | 1 | Feb 10, 2022 |
| AIMP2 | 1 | Jan 18, 2023 |
| AIRE | 2 | Aug 20, 2024 |
| ALAD | 2 | Jan 18, 2023 |
| ALDH18A1 | 2 | Jul 12, 2022 |
| ALDH7A1 | 1 | Feb 10, 2022 |
| ALDOB | 1 | Feb 10, 2022 |
| ALG11 | 2 | Oct 14, 2022 |
| ALG12 | 2 | Oct 17, 2023 |
| ALG13 | 2 | Oct 14, 2022 |
| ALG14 | 2 | May 9, 2024 |
| ALG3 | 2 | Dec 18, 2020 |
| ALG8 | 2 | Feb 2, 2024 |
| ALKBH8 | 4 | Aug 20, 2024 |
| ALPK1 | 1 | May 26, 2023 |
| ALPL | 3 | May 26, 2023 |
| ALX4 | 1 | Feb 10, 2022 |
| AMER1 | 1 | Dec 18, 2020 |
| AMIGO1 | 1 | Apr 11, 2022 |
| AMPD1 | 2 | Feb 2, 2024 |
| ANGPTL1 | 2 | May 9, 2024 |
| ANK3 | 3 | May 29, 2023 |
| ANKHD1 | 1 | May 9, 2024 |
| ANKHD1-EIF4EBP3 | 1 | May 9, 2024 |
| ANKRD11 | 10 | Aug 20, 2024 |
| ANKRD17 | 5 | Feb 2, 2024 |
| ANKS4B | 1 | Oct 17, 2023 |
| ANO10 | 2 | Feb 2, 2024 |
| ANP32A | 1 | Apr 11, 2022 |
| AP4M1 | 2 | May 26, 2023 |
| AP5S1 | 1 | Feb 2, 2024 |
| AP5Z1 | 1 | May 26, 2023 |
| APC | 1 | Jan 24, 2022 |
| APC2 | 5 | Oct 17, 2023 |
| APOB | 6 | Aug 20, 2024 |
| ARFGEF1 | 4 | May 9, 2024 |
| ARHGAP31 | 3 | Feb 2, 2024 |
| ARHGAP35 | 1 | Dec 18, 2020 |
| ARHGAP44 | 1 | Feb 2, 2024 |
| ARID1A | 8 | Aug 20, 2024 |
| ARID1B | 12 | Aug 20, 2024 |
| ARID2 | 3 | Jul 17, 2023 |
| ARID3A | 1 | May 26, 2023 |
| ARID5B | 1 | Jul 12, 2022 |
| ARL13B | 1 | Feb 10, 2022 |
| ARL17A | 1 | Jul 12, 2022 |
| ARMC8 | 1 | Feb 10, 2022 |
| ARMCX5-GPRASP2 | 1 | May 9, 2024 |
| ARPC4 | 1 | Aug 20, 2024 |
| ARPC4-TTLL3 | 1 | Aug 20, 2024 |
| ARSA | 2 | Aug 20, 2024 |
| ARSL | 2 | May 9, 2024 |
| ARV1 | 1 | Apr 11, 2022 |
| ARX | 2 | Jul 17, 2023 |
| ASH1L | 9 | Feb 2, 2024 |
| ASIC3 | 2 | Jul 12, 2022 |
| ASIC4-AS1 | 1 | Jul 17, 2023 |
| ASL | 2 | May 26, 2023 |
| ASPHD2 | 1 | May 9, 2024 |
| ASPM | 4 | Jul 17, 2023 |
| ASXL1 | 2 | Feb 10, 2022 |
| ASXL2 | 5 | Aug 20, 2024 |
| ASXL3 | 5 | Aug 20, 2024 |
| ATG2A | 1 | Jul 17, 2023 |
| ATIC | 2 | Oct 17, 2023 |
| ATM | 10 | Aug 20, 2024 |
| ATP10A | 1 | Feb 10, 2022 |
| ATP1A2 | 2 | Jan 18, 2023 |
| ATP1A3 | 2 | Jan 18, 2023 |
| ATP2B1 | 2 | Oct 17, 2023 |
| ATP2B2 | 3 | Aug 20, 2024 |
| ATP2B3 | 1 | Apr 11, 2022 |
| ATP2B4 | 1 | May 9, 2024 |
| ATP6AP2 | 2 | Aug 20, 2024 |
| ATP6V0A4 | 1 | Feb 10, 2022 |
| ATP6V0C | 1 | Oct 14, 2022 |
| ATP7A | 1 | Oct 14, 2022 |
| ATP7B | 3 | Oct 17, 2023 |
| ATP8B1 | 1 | Jan 18, 2023 |
| ATP9A | 2 | Oct 17, 2023 |
| ATRX | 7 | Aug 20, 2024 |
| ATXN7L2 | 1 | Aug 20, 2024 |
| ATXN7L3-AS1 | 2 | Aug 20, 2024 |
| AUTS2 | 6 | May 9, 2024 |
| AVIL | 1 | Aug 20, 2024 |
| AXIN2 | 1 | Jul 17, 2023 |
| B3GLCT | 1 | May 26, 2023 |
| BACH2 | 1 | Jul 12, 2022 |
| BAP1 | 1 | Oct 17, 2023 |
| BAZ2B | 4 | Jul 17, 2023 |
| BBS1 | 1 | Jul 12, 2022 |
| BCL11A | 6 | May 9, 2024 |
| BCL11B | 2 | May 26, 2023 |
| BCOR | 3 | May 9, 2024 |
| BCORL1 | 8 | Aug 20, 2024 |
| BFSP1 | 1 | Aug 20, 2024 |
| BICRA | 4 | May 9, 2024 |
| BLM | 1 | Oct 14, 2022 |
| BLTP1 | 3 | May 9, 2024 |
| BMP4 | 1 | Oct 14, 2022 |
| BMPR2 | 2 | Oct 17, 2023 |
| BNC2 | 1 | Jul 17, 2023 |
| BOLA3 | 1 | Jul 12, 2022 |
| BPTF | 5 | Feb 2, 2024 |
| BRAF | 10 | Jan 18, 2023 |
| BRAT1 | 4 | Feb 10, 2022 |
| BRCA1 | 6 | May 9, 2024 |
| BRCA2 | 10 | May 9, 2024 |
| BRF1 | 4 | Apr 11, 2022 |
| BRIP1 | 4 | May 9, 2024 |
| BRPF1 | 4 | May 9, 2024 |
| BRPF3 | 1 | Jul 17, 2023 |
| BRSK2 | 1 | Oct 17, 2023 |
| BRWD3 | 4 | Oct 17, 2023 |
| BSCL2 | 1 | Jul 12, 2022 |
| BSN | 3 | Aug 20, 2024 |
| BTD | 1 | May 26, 2023 |
| BUB1B | 2 | Apr 11, 2022 |
| BUB1B-PAK6 | 1 | Apr 11, 2022 |
| C11orf65 | 3 | Jan 18, 2023 |
| C17orf107 | 2 | May 26, 2023 |
| C1R | 2 | Oct 17, 2023 |
| CABP4 | 1 | Oct 17, 2023 |
| CACNA1A | 9 | May 9, 2024 |
| CACNA1C | 4 | Aug 20, 2024 |
| CACNA1C-AS1 | 2 | Aug 20, 2024 |
| CACNA1D | 1 | Jan 18, 2023 |
| CACNA1E | 3 | Aug 20, 2024 |
| CACNA1F | 1 | Aug 20, 2024 |
| CACNA1G | 1 | Aug 20, 2024 |
| CACNA2D2 | 3 | Jul 12, 2022 |
| CACNG2 | 1 | Feb 2, 2024 |
| CAD | 1 | Aug 7, 2020 |
| CAMK2B | 1 | Dec 18, 2020 |
| CAMK2G | 1 | Aug 28, 2018 |
| CAMSAP3 | 1 | Aug 20, 2024 |
| CAMTA1 | 9 | Feb 2, 2024 |
| CAPN3 | 2 | Aug 20, 2024 |
| CASK | 4 | Aug 20, 2024 |
| CASK-AS1 | 1 | Jul 12, 2022 |
| CASR | 3 | May 9, 2024 |
| CBL | 4 | Oct 17, 2023 |
| CBS | 2 | Jan 18, 2023 |
| CC2D1A | 4 | May 26, 2023 |
| CC2D2A | 5 | Aug 20, 2024 |
| CCDC22 | 2 | Jul 12, 2022 |
| CCDC85C | 2 | Aug 20, 2024 |
| CCDC88C | 2 | May 9, 2024 |
| CCDST | 11 | May 9, 2024 |
| CCNF | 1 | Nov 1, 2024 |
| CCNH | 1 | Feb 2, 2024 |
| CCNK | 2 | Aug 20, 2024 |
| CDAN1 | 2 | Aug 20, 2024 |
| CDC42 | 1 | Oct 17, 2023 |
| CDC42BPB | 5 | Oct 17, 2023 |
| CDH11 | 1 | Jul 17, 2023 |
| CDH13 | 1 | May 9, 2024 |
| CDH15 | 1 | Jul 12, 2022 |
| CDH2 | 1 | Jul 17, 2023 |
| CDH23 | 1 | Feb 2, 2024 |
| CDK13 | 2 | May 9, 2024 |
| CDK16 | 1 | Jul 12, 2022 |
| CDK8 | 3 | Oct 17, 2023 |
| CDKL5 | 1 | Jul 17, 2023 |
| CDKN1C | 1 | Feb 10, 2022 |
| CDON | 1 | Feb 10, 2022 |
| CECR2 | 1 | Jul 12, 2022 |
| CELF2 | 2 | Aug 20, 2024 |
| CELF2-AS1 | 1 | Feb 10, 2022 |
| CELF3 | 1 | Dec 18, 2020 |
| CELF4 | 1 | Jul 17, 2023 |
| CEP192 | 1 | Aug 20, 2024 |
| CEP290 | 4 | Jul 12, 2022 |
| CERT1 | 1 | Jan 18, 2023 |
| CFAP144 | 2 | Oct 14, 2022 |
| CFTR | 9 | Feb 2, 2024 |
| CFTR-AS1 | 3 | Feb 2, 2024 |
| CHAMP1 | 5 | Jan 18, 2023 |
| CHD1 | 4 | Jul 17, 2023 |
| CHD2 | 2 | May 9, 2024 |
| CHD3 | 9 | Aug 20, 2024 |
| CHD4 | 10 | Aug 20, 2024 |
| CHD5 | 3 | Feb 2, 2024 |
| CHD6 | 1 | Feb 10, 2022 |
| CHD7 | 11 | May 9, 2024 |
| CHD8 | 5 | Feb 2, 2024 |
| CHEK2 | 8 | May 9, 2024 |
| CHMP1A | 1 | Feb 2, 2024 |
| CHRNE | 3 | May 26, 2023 |
| CIC | 6 | Feb 2, 2024 |
| CKAP2L | 1 | May 9, 2024 |
| CLCN1 | 8 | May 9, 2024 |
| CLCN3 | 3 | Feb 2, 2024 |
| CLCN4 | 3 | May 9, 2024 |
| CLCN5 | 1 | Feb 10, 2022 |
| CLCN6 | 2 | Oct 17, 2023 |
| CLCN7 | 1 | Feb 10, 2022 |
| CLCNKB | 2 | Dec 18, 2020 |
| CLIC2 | 1 | Apr 11, 2022 |
| CLIP2 | 2 | Aug 20, 2024 |
| CLN6 | 2 | Aug 7, 2020 |
| CLN8 | 2 | Jan 18, 2023 |
| CLTC | 5 | Jul 17, 2023 |
| CNKSR2 | 2 | May 9, 2024 |
| CNOT1 | 7 | Oct 17, 2023 |
| CNOT3 | 1 | Jul 17, 2023 |
| CNPY3-GNMT | 2 | Feb 10, 2022 |
| CNTN6 | 1 | Apr 11, 2022 |
| CNTNAP2 | 4 | Feb 2, 2024 |
| CNTNAP5 | 2 | Feb 2, 2024 |
| COASY | 1 | Jul 12, 2022 |
| COG5 | 1 | Feb 10, 2022 |
| COL10A1 | 1 | May 9, 2024 |
| COL11A1 | 1 | Jul 17, 2023 |
| COL12A1 | 1 | May 26, 2023 |
| COL17A1 | 2 | Oct 14, 2022 |
| COL18A1 | 2 | Feb 10, 2022 |
| COL1A1 | 6 | Oct 17, 2023 |
| COL1A2 | 1 | Feb 2, 2024 |
| COL2A1 | 8 | Feb 2, 2024 |
| COL3A1 | 1 | Jul 17, 2023 |
| COL4A1 | 4 | Feb 2, 2024 |
| COL4A2 | 5 | Jan 18, 2023 |
| COL4A2-AS1 | 1 | Feb 10, 2022 |
| COL4A3 | 4 | Oct 17, 2023 |
| COL4A4 | 6 | May 9, 2024 |
| COL4A5 | 5 | Oct 17, 2023 |
| COL5A1 | 2 | May 9, 2024 |
| COL5A2 | 5 | Aug 20, 2024 |
| COL6A2 | 3 | Jul 17, 2023 |
| COL6A3 | 2 | Feb 10, 2022 |
| COPA | 1 | May 9, 2024 |
| COQ4 | 2 | Aug 20, 2024 |
| COQ7 | 1 | May 26, 2023 |
| COX10 | 1 | Dec 18, 2020 |
| CPLANE1 | 1 | Feb 10, 2022 |
| CRACR2A | 1 | Jul 12, 2022 |
| CRB1 | 1 | Jul 17, 2023 |
| CREBBP | 11 | Aug 20, 2024 |
| CRIPTO | 1 | May 26, 2023 |
| CRMP1 | 1 | Oct 14, 2022 |
| CRNN | 1 | Oct 17, 2023 |
| CRPPA | 2 | Jul 17, 2023 |
| CRPPA-AS1 | 1 | Jul 17, 2023 |
| CRTC2 | 1 | Feb 10, 2022 |
| CRYAB | 1 | Aug 20, 2024 |
| CRYBA1 | 1 | Feb 10, 2022 |
| CSDE1 | 2 | Feb 10, 2022 |
| CSF1R | 1 | Feb 10, 2022 |
| CSMD1 | 1 | Oct 17, 2023 |
| CSNK2A1 | 3 | Oct 17, 2023 |
| CSNK2B | 3 | Feb 10, 2022 |
| CSPP1 | 1 | Feb 10, 2022 |
| CST6 | 1 | Feb 10, 2022 |
| CTBP1 | 1 | Feb 10, 2022 |
| CTCF | 4 | Aug 20, 2024 |
| CTDP1 | 1 | Jul 12, 2022 |
| CTDSPL2 | 2 | Jul 12, 2022 |
| CTNNB1 | 1 | Oct 14, 2022 |
| CTNND2 | 3 | Jul 17, 2023 |
| CTNS | 1 | Oct 17, 2023 |
| CTNS-AS1 | 1 | Oct 17, 2023 |
| CTPS1 | 1 | Apr 11, 2022 |
| CTXN2-AS1 | 1 | Feb 10, 2022 |
| CUL1 | 1 | May 26, 2023 |
| CUL3 | 1 | Jan 18, 2023 |
| CUL4B | 5 | May 9, 2024 |
| CUL7 | 4 | Jul 17, 2023 |
| CUX1 | 3 | Aug 20, 2024 |
| CUX2 | 2 | Jul 17, 2023 |
| CYB561D2 | 2 | Jul 12, 2022 |
| CYFIP2 | 3 | Aug 20, 2024 |
| CYLD | 1 | Feb 10, 2022 |
| CYP11A1 | 1 | Jul 17, 2023 |
| CYP11B1 | 1 | Oct 17, 2023 |
| CYP21A2 | 6 | Feb 2, 2024 |
| CYP24A1 | 2 | May 9, 2024 |
| CYP2U1 | 2 | Jul 12, 2022 |
| CYP51A1 | 2 | Oct 17, 2023 |
| DAB2IP | 1 | Feb 10, 2022 |
| DBT | 1 | Feb 10, 2022 |
| DCC | 4 | Feb 2, 2024 |
| DCDC2 | 1 | Oct 8, 2024 |
| DCX | 1 | Feb 10, 2022 |
| DDB1 | 2 | Oct 14, 2022 |
| DDX23 | 8 | May 26, 2023 |
| DDX3X | 6 | May 30, 2024 |
| DDX42 | 1 | Oct 17, 2023 |
| DDX6 | 1 | Jul 12, 2022 |
| DEAF1 | 3 | Oct 14, 2022 |
| DENND5B | 1 | Oct 14, 2022 |
| DEPDC5 | 2 | Apr 11, 2022 |
| DHCR7 | 6 | Aug 20, 2024 |
| DHDDS | 2 | Oct 17, 2023 |
| DHPS | 2 | Jan 18, 2023 |
| DHTKD1 | 1 | Oct 14, 2022 |
| DHX16 | 1 | Oct 17, 2023 |
| DHX30 | 1 | Aug 20, 2024 |
| DHX37 | 1 | Feb 10, 2022 |
| DHX9 | 2 | Feb 2, 2024 |
| DIP2B | 1 | Oct 14, 2022 |
| DLG3 | 6 | Oct 17, 2023 |
| DLG4 | 4 | Oct 17, 2023 |
| DLL1 | 5 | Jul 17, 2023 |
| DLL3 | 2 | Jul 17, 2023 |
| DMAP1 | 2 | Oct 14, 2022 |
| DMD | 6 | Feb 2, 2024 |
| DNAAF5 | 1 | Aug 20, 2024 |
| DNAH1 | 1 | Jan 18, 2023 |
| DNAH11 | 1 | Oct 14, 2022 |
| DNAH14 | 5 | May 9, 2024 |
| DNAH5 | 2 | Apr 11, 2022 |
| DNAI1 | 2 | May 26, 2023 |
| DNAI2 | 1 | Aug 20, 2024 |
| DNAJC6 | 1 | Apr 11, 2022 |
| DNAJC9 | 1 | May 26, 2023 |
| DNMT1 | 1 | Feb 10, 2022 |
| DNMT3A | 4 | Apr 11, 2022 |
| DOCK3 | 3 | Jul 17, 2023 |
| DOCK6 | 1 | Apr 11, 2022 |
| DOCK6-AS1 | 1 | Apr 11, 2022 |
| DOHH | 1 | Jul 17, 2023 |
| DONSON | 1 | Feb 10, 2022 |
| DOT1L | 1 | Feb 10, 2022 |
| DPF2 | 1 | Apr 11, 2022 |
| DPH1 | 1 | Apr 11, 2022 |
| DPM1 | 2 | Aug 20, 2024 |
| DPP6 | 1 | Aug 20, 2024 |
| DROSHA | 1 | Dec 18, 2020 |
| DSG1-AS1 | 1 | Dec 18, 2020 |
| DSG4 | 1 | Dec 18, 2020 |
| DSP | 1 | Feb 10, 2022 |
| DSPP | 1 | Oct 17, 2023 |
| DST | 2 | Aug 20, 2024 |
| DSTYK | 1 | May 9, 2024 |
| DTHD1 | 1 | Oct 17, 2023 |
| DVL3 | 1 | May 9, 2024 |
| DYNC1H1 | 10 | May 9, 2024 |
| DYNC2H1 | 5 | May 26, 2023 |
| DYRK1A | 13 | May 9, 2024 |
| EBF1 | 1 | Jul 17, 2023 |
| EBF3 | 2 | Aug 20, 2024 |
| EBP | 1 | Apr 11, 2022 |
| ECEL1 | 2 | Apr 11, 2022 |
| EDA | 7 | Aug 20, 2024 |
| EDAR | 2 | Feb 2, 2024 |
| EDN3 | 1 | Aug 20, 2024 |
| EDNRB | 1 | May 26, 2023 |
| EDNRB-AS1 | 1 | May 26, 2023 |
| EEF1A2 | 2 | May 9, 2024 |
| EFHC1 | 1 | May 9, 2024 |
| EFHC2 | 1 | May 9, 2024 |
| EFNB1 | 2 | May 9, 2024 |
| EFTUD2 | 2 | Oct 17, 2023 |
| EGR2 | 1 | Feb 10, 2022 |
| EHMT1 | 6 | Jul 17, 2023 |
| EHMT2-AS1 | 1 | Feb 10, 2022 |
| EIF2AK2 | 1 | Jul 12, 2022 |
| EIF2B5 | 1 | Feb 10, 2022 |
| EIF2S3 | 1 | Oct 17, 2023 |
| EIF3F | 3 | Feb 2, 2024 |
| EIF4A2 | 1 | Oct 17, 2023 |
| ELAVL3 | 1 | Jul 17, 2023 |
| ELAVL4 | 1 | Feb 10, 2022 |
| ELN | 1 | Jul 12, 2022 |
| ELN-AS1 | 1 | Jul 12, 2022 |
| ELP2 | 3 | Jul 17, 2023 |
| ELP4 | 1 | Jan 18, 2023 |
| EMC1 | 1 | Oct 17, 2023 |
| EMC1-AS1 | 1 | Oct 17, 2023 |
| EME2 | 1 | Feb 10, 2022 |
| EMILIN1 | 1 | May 9, 2024 |
| EML1 | 2 | May 9, 2024 |
| EML6 | 1 | Oct 14, 2022 |
| ENG | 3 | Jan 18, 2023 |
| EP300 | 4 | Aug 20, 2024 |
| EP400 | 4 | Oct 14, 2022 |
| EPB41L1 | 1 | Aug 20, 2024 |
| EPB41L4B | 1 | Jul 17, 2023 |
| EPHB4 | 2 | Jan 18, 2023 |
| EPRS1 | 4 | Aug 20, 2024 |
| ERBB4 | 1 | Jul 17, 2023 |
| ERCC1 | 1 | Feb 10, 2022 |
| ERCC2 | 2 | Oct 14, 2022 |
| ERCC6 | 2 | Jul 12, 2022 |
| ERF | 3 | Oct 17, 2023 |
| ESPN | 1 | Feb 10, 2022 |
| ETFDH | 2 | Oct 14, 2022 |
| EXOC7 | 2 | Feb 2, 2024 |
| EXOSC3 | 1 | Feb 10, 2022 |
| EXT1 | 1 | Jan 18, 2023 |
| EXT2 | 4 | May 9, 2024 |
| EYA1 | 3 | May 9, 2024 |
| EYS | 1 | Feb 2, 2024 |
| EZH2 | 2 | Oct 14, 2022 |
| F2 | 1 | Apr 11, 2022 |
| F5 | 1 | Aug 20, 2024 |
| F7 | 2 | Feb 10, 2022 |
| F9 | 2 | Aug 20, 2024 |
| FAH | 2 | Feb 10, 2022 |
| FAM120A | 2 | Jan 18, 2023 |
| FAM135B | 1 | May 26, 2023 |
| FAM149B1 | 2 | May 26, 2023 |
| FAM50A | 2 | Oct 14, 2022 |
| FANCA | 1 | Feb 10, 2022 |
| FANCG | 1 | Feb 10, 2022 |
| FANCI | 1 | Jan 18, 2023 |
| FARS2 | 1 | May 9, 2024 |
| FARSB | 1 | Feb 10, 2022 |
| FASN | 1 | Feb 10, 2022 |
| FAT4 | 1 | Oct 14, 2022 |
| FBN1 | 9 | Aug 20, 2024 |
| FBN2 | 3 | Aug 20, 2024 |
| FBXL19 | 1 | May 9, 2024 |
| FBXL4 | 3 | Jan 18, 2023 |
| FBXO11 | 2 | Feb 2, 2024 |
| FBXO7 | 1 | Jan 18, 2023 |
| FBXW7 | 2 | May 9, 2024 |
| FCSK | 1 | Jul 12, 2022 |
| FEM1C | 1 | Jan 18, 2023 |
| FGD1 | 2 | Jul 17, 2023 |
| FGF13 | 1 | Jul 12, 2022 |
| FGFR1 | 1 | Jan 18, 2023 |
| FGFR2 | 4 | Aug 20, 2024 |
| FGFR3 | 3 | May 9, 2024 |
| FH | 2 | Feb 10, 2022 |
| FIBCD1 | 2 | May 26, 2023 |
| FIG4 | 2 | Aug 20, 2024 |
| FKBP14 | 1 | Feb 10, 2022 |
| FKBP14-AS1 | 1 | Feb 10, 2022 |
| FLG | 11 | May 9, 2024 |
| FLNA | 4 | Aug 20, 2024 |
| FLT4 | 1 | Feb 10, 2022 |
| FNDC7 | 1 | Oct 14, 2022 |
| FOXG1 | 2 | Feb 2, 2024 |
| FOXL2 | 2 | Jul 17, 2023 |
| FOXP1 | 3 | Feb 2, 2024 |
| FOXP2 | 2 | Aug 20, 2024 |
| FOXP4 | 2 | Aug 20, 2024 |
| FRAS1 | 2 | Dec 18, 2020 |
| FRMD5 | 1 | Feb 2, 2024 |
| FRMD7 | 1 | May 26, 2023 |
| FRMPD4 | 10 | Aug 20, 2024 |
| FTSJ1 | 1 | May 9, 2024 |
| FUT11 | 1 | May 9, 2024 |
| FZD2 | 1 | Aug 20, 2024 |
| FZD4 | 1 | Aug 20, 2024 |
| G6PC1 | 1 | Oct 17, 2023 |
| G6PD | 2 | May 9, 2024 |
| GAA | 3 | Oct 17, 2023 |
| GABBR1 | 1 | Apr 11, 2022 |
| GABBR2 | 3 | Aug 20, 2024 |
| GABRA1 | 1 | Aug 20, 2024 |
| GABRA2 | 1 | Feb 10, 2022 |
| GABRA5 | 1 | Feb 10, 2022 |
| GABRE | 1 | Feb 10, 2022 |
| GABRG2 | 1 | Oct 17, 2023 |
| GALC | 2 | Jul 17, 2023 |
| GALE | 3 | Jan 18, 2023 |
| GALNS | 1 | Feb 10, 2022 |
| GALNT3 | 2 | Jul 17, 2023 |
| GALT | 2 | Feb 10, 2022 |
| GANAB | 1 | May 26, 2023 |
| GAPVD1 | 1 | Feb 10, 2022 |
| GAREM2 | 1 | Feb 10, 2022 |
| GARS1 | 1 | Feb 10, 2022 |
| GATA5 | 1 | Feb 2, 2024 |
| GATA6 | 1 | Feb 10, 2022 |
| GATAD2B | 5 | Oct 17, 2023 |
| GBA1 | 3 | Aug 20, 2024 |
| GBE1 | 1 | Feb 10, 2022 |
| GBF1 | 1 | May 9, 2024 |
| GCLC | 1 | Feb 2, 2024 |
| GDAP1 | 1 | Jul 12, 2022 |
| GDF5 | 1 | Apr 11, 2022 |
| GDI1 | 1 | May 9, 2024 |
| GEMIN5 | 3 | May 9, 2024 |
| GFM1 | 1 | Feb 10, 2022 |
| GH-LCR | 2 | Oct 14, 2022 |
| GHSR | 1 | Jan 18, 2023 |
| GIGYF2 | 1 | Jan 18, 2023 |
| GJA1 | 1 | Feb 10, 2022 |
| GJB1 | 2 | Feb 2, 2024 |
| GJB2 | 1 | Feb 10, 2022 |
| GJC2 | 1 | May 26, 2023 |
| GLB1 | 2 | Aug 20, 2024 |
| GLDC | 2 | Oct 17, 2023 |
| GLI2 | 2 | Oct 14, 2022 |
| GLI3 | 1 | Jan 18, 2023 |
| GLMN | 2 | Jan 18, 2023 |
| GLRA1 | 1 | Feb 10, 2022 |
| GML | 1 | Oct 17, 2023 |
| GNAO1 | 1 | Aug 20, 2024 |
| GNAS | 5 | Aug 20, 2024 |
| GNB1 | 4 | May 9, 2024 |
| GNB5 | 2 | Feb 2, 2024 |
| GNG3 | 1 | Jul 12, 2022 |
| GNMT | 2 | Feb 10, 2022 |
| GPAA1 | 1 | Aug 20, 2024 |
| GPC3 | 2 | Oct 17, 2023 |
| GPR132 | 1 | May 9, 2024 |
| GPR143 | 1 | Oct 14, 2022 |
| GPRASP1 | 1 | May 9, 2024 |
| GPSM2 | 1 | Feb 10, 2022 |
| GREB1L | 1 | May 26, 2023 |
| GRIA1 | 2 | Sep 30, 2024 |
| GRIA2 | 4 | Feb 2, 2024 |
| GRIA3 | 6 | Feb 2, 2024 |
| GRIA4 | 2 | Feb 2, 2024 |
| GRID2 | 1 | Dec 18, 2020 |
| GRIK2 | 3 | May 9, 2024 |
| GRIN1 | 3 | Jul 12, 2022 |
| GRIN2A | 5 | Jul 17, 2023 |
| GRIN2B | 3 | Jul 17, 2023 |
| GRIN2D | 1 | Jul 12, 2022 |
| GRM1 | 1 | May 9, 2024 |
| GRM7 | 1 | Feb 10, 2022 |
| GUCY1A2 | 1 | May 9, 2024 |
| GYG1 | 1 | Jul 17, 2023 |
| H1-4 | 1 | Jul 17, 2023 |
| H4C5 | 2 | May 9, 2024 |
| HACE1 | 1 | Feb 10, 2022 |
| HADHA | 2 | Feb 10, 2022 |
| HADHB | 1 | May 26, 2023 |
| HBB | 3 | Oct 14, 2022 |
| HCFC1 | 1 | Feb 10, 2022 |
| HCN1 | 3 | Oct 17, 2023 |
| HCN4 | 1 | Oct 17, 2023 |
| HDAC4 | 1 | Oct 17, 2023 |
| HDAC8 | 1 | May 26, 2023 |
| HDAC9 | 1 | Jul 12, 2022 |
| HEATR5B | 2 | Jan 18, 2023 |
| HECTD1 | 3 | Oct 17, 2023 |
| HECTD4 | 1 | Jul 17, 2023 |
| HECW2 | 4 | Oct 17, 2023 |
| HEPHL1 | 2 | Dec 18, 2020 |
| HERC1 | 2 | Oct 14, 2022 |
| HERC2 | 6 | Oct 17, 2023 |
| HEXB | 1 | Feb 2, 2024 |
| HFE | 2 | Jul 12, 2022 |
| HFE-AS1 | 1 | Apr 11, 2022 |
| HIVEP2 | 7 | Feb 2, 2024 |
| HLCS | 1 | Feb 10, 2022 |
| HMGXB3 | 1 | Apr 11, 2022 |
| HMX3 | 1 | Feb 10, 2022 |
| HNMT | 2 | Feb 2, 2024 |
| HNRNPDL | 1 | Dec 18, 2020 |
| HNRNPF | 1 | Jul 12, 2022 |
| HNRNPH2 | 2 | Feb 2, 2024 |
| HNRNPL | 1 | Jul 17, 2023 |
| HNRNPR | 1 | Jan 18, 2023 |
| HNRNPU | 1 | Oct 17, 2023 |
| HNRNPUL1 | 1 | Feb 2, 2024 |
| HNRNPUL2 | 1 | Oct 14, 2022 |
| HNRNPUL2-BSCL2 | 2 | Oct 14, 2022 |
| HRAS | 1 | Jul 12, 2022 |
| HS6ST2 | 1 | Oct 17, 2023 |
| HSD17B3 | 1 | Jul 17, 2023 |
| HSD17B3-AS1 | 1 | Jul 17, 2023 |
| HSD17B4 | 3 | Jul 12, 2022 |
| HSPA9 | 2 | Oct 17, 2023 |
| HSPB1 | 1 | May 9, 2024 |
| HSPG2 | 2 | Dec 18, 2020 |
| HUWE1 | 14 | Aug 20, 2024 |
| IARS1 | 1 | Jan 18, 2023 |
| IDH1 | 2 | Oct 17, 2023 |
| IDS | 1 | Jul 31, 2020 |
| IDUA | 1 | Feb 10, 2022 |
| IGF1R | 2 | Feb 2, 2024 |
| IKBKB | 1 | Feb 10, 2022 |
| IL1RAPL1 | 6 | Oct 17, 2023 |
| IL1RAPL2 | 1 | Jul 17, 2023 |
| IL2RG | 1 | Apr 11, 2022 |
| IMPG1 | 1 | Feb 10, 2022 |
| INPP5E | 1 | Feb 2, 2024 |
| INSR | 1 | Oct 14, 2022 |
| INTS1 | 2 | Apr 11, 2022 |
| INTS6 | 1 | Jul 12, 2022 |
| INVS | 1 | Feb 10, 2022 |
| IPO9 | 1 | Jul 17, 2023 |
| IQGAP3 | 1 | Feb 10, 2022 |
| IQSEC1 | 1 | Feb 10, 2022 |
| IQSEC2 | 6 | Aug 20, 2024 |
| IRF2BP2 | 1 | Apr 11, 2022 |
| IRF2BPL | 6 | May 9, 2024 |
| IRF6 | 1 | May 9, 2024 |
| ITGA2B | 1 | Jan 18, 2023 |
| ITGB4 | 1 | Jan 18, 2023 |
| ITPA | 1 | Feb 10, 2022 |
| ITPR1 | 2 | Feb 10, 2022 |
| ITSN1 | 3 | Oct 17, 2023 |
| IVD | 5 | May 26, 2023 |
| JAG1 | 1 | Oct 14, 2022 |
| JAKMIP1 | 1 | Feb 10, 2022 |
| JAM3 | 1 | Feb 2, 2024 |
| JMJD1C | 6 | Jul 17, 2023 |
| JPH3 | 1 | Jan 18, 2023 |
| KANSL1 | 2 | May 26, 2023 |
| KARS1 | 1 | Jul 17, 2023 |
| KAT5 | 2 | Jul 17, 2023 |
| KAT6A | 8 | Aug 20, 2024 |
| KAT6B | 3 | Aug 20, 2024 |
| KAT8 | 1 | Jul 17, 2023 |
| KATNAL2 | 1 | Feb 10, 2022 |
| KATNIP | 1 | Feb 10, 2022 |
| KCNA2 | 3 | Feb 2, 2024 |
| KCNA3 | 1 | Feb 10, 2022 |
| KCNB1 | 5 | Aug 20, 2024 |
| KCNC1 | 1 | Jul 17, 2023 |
| KCNH1 | 1 | May 26, 2023 |
| KCNH2 | 2 | May 26, 2023 |
| KCNH3 | 1 | Dec 18, 2020 |
| KCNH4 | 1 | Jul 12, 2022 |
| KCNH5 | 1 | Jan 18, 2023 |
| KCNJ1 | 1 | Dec 10, 2020 |
| KCNJ11 | 2 | Oct 17, 2023 |
| KCNJ6 | 1 | Apr 11, 2022 |
| KCNK9 | 1 | Dec 18, 2020 |
| KCNMA1 | 2 | Jul 17, 2023 |
| KCNN2 | 1 | Feb 2, 2024 |
| KCNN3 | 3 | Jul 12, 2022 |
| KCNQ1 | 4 | Aug 20, 2024 |
| KCNQ2 | 2 | Jul 17, 2023 |
| KCNQ3 | 1 | May 9, 2024 |
| KCNQ5 | 4 | Aug 20, 2024 |
| KCNQ5-DT | 1 | Jul 17, 2023 |
| KCNT1 | 1 | Dec 18, 2020 |
| KCNT2 | 4 | Oct 17, 2023 |
| KDM2B | 2 | May 9, 2024 |
| KDM2B-DT | 1 | Jan 18, 2023 |
| KDM3B | 6 | Oct 17, 2023 |
| KDM4B | 6 | Aug 20, 2024 |
| KDM5B | 2 | Aug 20, 2024 |
| KDM5C | 8 | Aug 20, 2024 |
| KDM6A | 2 | Sep 30, 2024 |
| KDM6B | 19 | May 9, 2024 |
| KIAA0586 | 7 | Aug 20, 2024 |
| KIAA0753 | 1 | Jul 12, 2022 |
| KIF1A | 3 | Feb 2, 2024 |
| KIF21B | 2 | Oct 14, 2022 |
| KIF23 | 1 | Jan 18, 2023 |
| KIF2A | 1 | Feb 10, 2022 |
| KIF4A | 2 | Oct 17, 2023 |
| KIF5A | 1 | Oct 17, 2023 |
| KIF7 | 3 | Jul 17, 2023 |
| KIFBP | 1 | Feb 10, 2022 |
| KIT | 1 | Feb 10, 2022 |
| KLC4 | 1 | Feb 10, 2022 |
| KLF7 | 2 | May 26, 2023 |
| KLHL15 | 1 | Dec 18, 2020 |
| KLHL20 | 1 | Apr 11, 2022 |
| KLHL7 | 1 | Feb 10, 2022 |
| KLHL9 | 1 | Oct 17, 2023 |
| KMT2A | 13 | Aug 20, 2024 |
| KMT2B | 8 | Aug 20, 2024 |
| KMT2C | 7 | May 9, 2024 |
| KMT2D | 7 | Aug 20, 2024 |
| KMT2E | 11 | Aug 20, 2024 |
| KMT5B | 5 | May 9, 2024 |
| KPTN | 4 | Oct 17, 2023 |
| KRAS | 7 | May 9, 2024 |
| KRIT1 | 2 | Oct 17, 2023 |
| KRT5 | 1 | Feb 10, 2022 |
| KRT9 | 1 | Feb 10, 2022 |
| LAMA1 | 4 | Aug 20, 2024 |
| LAMA2 | 5 | Oct 7, 2022 |
| LARP7 | 1 | May 26, 2023 |
| LAS1L | 2 | May 9, 2024 |
| LDLR | 9 | Aug 20, 2024 |
| LEMD3 | 1 | Feb 10, 2022 |
| LEPR | 1 | Jan 18, 2023 |
| LGI3 | 2 | Oct 17, 2023 |
| LHFPL3 | 1 | Jul 17, 2023 |
| LHX2 | 2 | Aug 20, 2024 |
| LIG4 | 1 | Feb 2, 2024 |
| LIM2 | 1 | May 9, 2024 |
| LIM2-AS1 | 1 | May 9, 2024 |
| LINGO1 | 1 | Apr 11, 2022 |
| LINS1 | 3 | Jul 17, 2023 |
| LIPT1 | 1 | Jul 17, 2023 |
| LMBRD2 | 4 | Feb 2, 2024 |
| LMNA | 3 | Feb 2, 2024 |
| LMX1B | 2 | May 9, 2024 |
| LOC101448202 | 1 | May 9, 2024 |
| LOC101928008 | 1 | Feb 10, 2022 |
| LOC101928335 | 1 | Jul 12, 2022 |
| LOC101928965 | 1 | Jul 12, 2022 |
| LOC101929165 | 1 | May 9, 2024 |
| LOC102723566 | 2 | Jan 18, 2023 |
| LOC102724058 | 5 | Jul 17, 2023 |
| LOC105370890 | 1 | Oct 17, 2023 |
| LOC105371050 | 1 | Nov 1, 2024 |
| LOC105371566 | 1 | May 26, 2023 |
| LOC105371856 | 2 | Aug 20, 2024 |
| LOC106099062 | 3 | Oct 14, 2022 |
| LOC106501713 | 2 | Dec 18, 2020 |
| LOC106627981 | 3 | Aug 20, 2024 |
| LOC106780800 | 6 | Feb 2, 2024 |
| LOC106799833 | 1 | Oct 17, 2023 |
| LOC107133510 | 3 | Oct 14, 2022 |
| LOC107303340 | 1 | Feb 10, 2022 |
| LOC107372315 | 2 | Apr 11, 2022 |
| LOC107652445 | 1 | May 9, 2024 |
| LOC107984638 | 1 | Jan 18, 2023 |
| LOC107988032 | 1 | Feb 2, 2024 |
| LOC108281177 | 1 | Oct 17, 2023 |
| LOC111674472 | 1 | Oct 17, 2023 |
| LOC113633877 | 1 | Jul 12, 2022 |
| LOC113845788 | 1 | Oct 17, 2023 |
| LOC115308161 | 1 | Oct 17, 2023 |
| LOC121587574 | 5 | May 9, 2024 |
| LOC121587595 | 1 | Aug 20, 2024 |
| LOC121740638 | 1 | Jan 18, 2023 |
| LOC125177393 | 1 | May 9, 2024 |
| LOC125177479 | 1 | Jul 12, 2022 |
| LOC126805670 | 1 | Feb 10, 2022 |
| LOC126806433 | 1 | May 26, 2023 |
| LOC126806714 | 1 | Feb 2, 2024 |
| LOC126806798 | 1 | Jul 12, 2022 |
| LOC126806878 | 1 | May 26, 2023 |
| LOC126807318 | 1 | Apr 11, 2022 |
| LOC126807321 | 1 | Oct 17, 2023 |
| LOC126807323 | 1 | May 9, 2024 |
| LOC126807619 | 1 | Feb 10, 2022 |
| LOC126859827 | 1 | May 26, 2023 |
| LOC126860124 | 1 | Feb 10, 2022 |
| LOC126860130 | 2 | Oct 17, 2023 |
| LOC126860330 | 1 | May 26, 2023 |
| LOC126860545 | 1 | Jul 12, 2022 |
| LOC126860585 | 1 | Jul 17, 2023 |
| LOC126860741 | 1 | Jan 18, 2023 |
| LOC126861232 | 1 | Feb 10, 2022 |
| LOC126861242 | 1 | May 26, 2023 |
| LOC126861520 | 1 | Dec 18, 2020 |
| LOC126861542 | 1 | Oct 14, 2022 |
| LOC126861615 | 1 | Aug 20, 2024 |
| LOC126861898 | 1 | Feb 10, 2022 |
| LOC126862173 | 1 | Oct 17, 2023 |
| LOC126862264 | 1 | May 26, 2023 |
| LOC126862323 | 1 | Feb 10, 2022 |
| LOC126862479 | 1 | Oct 17, 2023 |
| LOC126862481 | 1 | Jul 17, 2023 |
| LOC126862571 | 3 | May 26, 2023 |
| LOC126862611 | 1 | Aug 20, 2024 |
| LOC126862698 | 1 | Aug 20, 2024 |
| LOC126862876 | 1 | Jul 17, 2023 |
| LOC126862902 | 1 | Oct 17, 2023 |
| LOC126863262 | 1 | Feb 2, 2024 |
| LOC126863275 | 1 | Jul 17, 2023 |
| LOC127898564 | 2 | Jul 12, 2022 |
| LOC129929837 | 1 | Feb 2, 2024 |
| LOC129930123 | 1 | May 9, 2024 |
| LOC129930989 | 1 | May 9, 2024 |
| LOC129932811 | 1 | Apr 11, 2022 |
| LOC129935730 | 1 | Feb 10, 2022 |
| LOC129992137 | 1 | Jan 18, 2023 |
| LOC129993881 | 1 | Oct 17, 2023 |
| LOC129994460 | 1 | Jul 12, 2022 |
| LOC129994526 | 1 | May 26, 2023 |
| LOC129995635 | 1 | Feb 10, 2022 |
| LOC129995965 | 1 | Feb 10, 2022 |
| LOC129996027 | 1 | May 9, 2024 |
| LOC129996711 | 1 | Jul 17, 2023 |
| LOC129996744 | 1 | Feb 10, 2022 |
| LOC129997523 | 1 | Oct 17, 2023 |
| LOC129997730 | 1 | Aug 20, 2024 |
| LOC129998021 | 1 | May 9, 2024 |
| LOC129998292 | 2 | May 9, 2024 |
| LOC130001364 | 1 | Aug 20, 2024 |
| LOC130001960 | 1 | Dec 18, 2020 |
| LOC130003576 | 1 | Feb 10, 2022 |
| LOC130003959 | 1 | Feb 10, 2022 |
| LOC130007700 | 1 | Aug 20, 2024 |
| LOC130056160 | 1 | Jan 18, 2023 |
| LOC130060311 | 1 | Dec 18, 2020 |
| LOC130060903 | 1 | Dec 18, 2020 |
| LOC130061940 | 1 | Oct 14, 2022 |
| LOC130064418 | 1 | Jul 17, 2023 |
| LOC130064856 | 1 | Jul 12, 2022 |
| LOC130065345 | 1 | Oct 17, 2023 |
| LOC130066166 | 1 | Aug 20, 2024 |
| LOC130067823 | 1 | Jan 18, 2023 |
| LOC130068628 | 1 | Jul 17, 2023 |
| LOC340512 | 1 | Feb 10, 2022 |
| LONRF3 | 1 | Oct 14, 2022 |
| LPIN2 | 1 | May 26, 2023 |
| LRCH2 | 1 | Oct 17, 2023 |
| LRP1 | 1 | Feb 2, 2024 |
| LRP2 | 1 | May 9, 2024 |
| LRP5 | 2 | Feb 10, 2022 |
| LRP6 | 2 | Jul 17, 2023 |
| LRRC27 | 1 | May 9, 2024 |
| LRRC37A2 | 1 | Jul 12, 2022 |
| LRRC4 | 1 | Jan 18, 2023 |
| LRRC43 | 2 | Feb 10, 2022 |
| LRRC56 | 1 | Jul 12, 2022 |
| LSS | 2 | Feb 2, 2024 |
| LTBP4 | 2 | Apr 11, 2022 |
| LURAP1L-AS1 | 1 | Feb 10, 2022 |
| LYPD6B | 1 | May 9, 2024 |
| LZTR1 | 5 | May 9, 2024 |
| MACF1 | 4 | Oct 14, 2022 |
| MADD | 5 | May 9, 2024 |
| MAGEL2 | 10 | Aug 20, 2024 |
| MAN1B1 | 2 | Oct 17, 2023 |
| MAN2B1 | 3 | Feb 2, 2024 |
| MAOA | 1 | May 26, 2023 |
| MAP1B | 1 | Feb 2, 2024 |
| MAP2K1 | 5 | Jan 20, 2015 |
| MAP2K2 | 1 | Jul 17, 2023 |
| MAP3K12 | 1 | Oct 14, 2022 |
| MAP3K20 | 1 | Aug 20, 2024 |
| MAP3K4 | 1 | Oct 14, 2022 |
| MAPK8IP3 | 5 | May 26, 2023 |
| MARK2 | 1 | Jan 18, 2023 |
| MAST1 | 2 | Oct 17, 2023 |
| MAST3 | 1 | Jul 17, 2023 |
| MAT1A | 4 | Feb 10, 2022 |
| MATN3 | 1 | Dec 18, 2020 |
| MBD5 | 5 | Aug 20, 2024 |
| MBD6 | 1 | Oct 14, 2022 |
| MBOAT7 | 1 | Aug 20, 2024 |
| MBTPS1 | 1 | Feb 10, 2022 |
| MBTPS2 | 1 | Jul 12, 2022 |
| MC4R | 1 | Feb 2, 2024 |
| MCCC1 | 2 | May 9, 2024 |
| MEA1 | 3 | Feb 2, 2024 |
| MECP2 | 9 | Aug 20, 2024 |
| MED12 | 5 | Aug 20, 2024 |
| MED12L | 5 | Aug 20, 2024 |
| MED13 | 7 | Jul 17, 2023 |
| MED13L | 4 | Feb 2, 2024 |
| MED14 | 2 | Apr 11, 2022 |
| MED15 | 1 | May 9, 2024 |
| MED17 | 1 | Oct 14, 2022 |
| MEF2C | 6 | Feb 2, 2024 |
| MEF2C-AS2 | 1 | Oct 14, 2022 |
| MEFV | 1 | May 26, 2023 |
| MEGF8 | 4 | May 9, 2024 |
| MEIS2 | 2 | Feb 10, 2022 |
| MEX3A | 1 | Oct 17, 2023 |
| MFF-DT | 3 | Oct 17, 2023 |
| MFN2 | 1 | Feb 10, 2022 |
| MIB1 | 1 | May 9, 2024 |
| MICU1 | 1 | Dec 18, 2020 |
| MID2 | 2 | May 9, 2024 |
| MINK1 | 1 | Oct 17, 2023 |
| MIP | 2 | Jul 12, 2022 |
| MIR9718 | 1 | Oct 14, 2022 |
| MITD1 | 1 | Jul 17, 2023 |
| MKKS | 1 | Dec 18, 2020 |
| MLC1 | 2 | Jan 18, 2023 |
| MMAA | 1 | Apr 11, 2022 |
| MMACHC | 1 | Feb 10, 2022 |
| MMP16 | 1 | May 9, 2024 |
| MMUT | 1 | Feb 10, 2022 |
| MN1 | 2 | Jul 12, 2022 |
| MOCS2 | 2 | Oct 17, 2023 |
| MORC2 | 6 | Aug 20, 2024 |
| MPDZ | 6 | May 9, 2024 |
| MPZ | 2 | Feb 10, 2022 |
| MRPS34 | 1 | Feb 10, 2022 |
| MSH6 | 3 | Jul 12, 2022 |
| MSL3 | 1 | Feb 10, 2022 |
| MSX1 | 1 | Jan 18, 2023 |
| MTM1 | 1 | Oct 14, 2022 |
| MTMR8 | 1 | Dec 18, 2020 |
| MTO1 | 2 | Jan 18, 2023 |
| MTOR | 6 | Jan 18, 2023 |
| MTR | 1 | Feb 10, 2022 |
| MUC5B | 1 | Aug 20, 2024 |
| MVP-DT | 1 | Jul 12, 2022 |
| MYBPC3 | 8 | Feb 2, 2024 |
| MYCN | 3 | Oct 17, 2023 |
| MYH10 | 4 | May 9, 2024 |
| MYH11 | 3 | Oct 17, 2023 |
| MYH6 | 1 | Feb 2, 2024 |
| MYH7 | 3 | Feb 2, 2024 |
| MYO15A | 2 | May 26, 2023 |
| MYO18B | 2 | Feb 10, 2022 |
| MYO5A | 1 | Jul 17, 2023 |
| MYO6 | 1 | Jan 18, 2023 |
| MYO9A | 2 | Apr 11, 2022 |
| MYORG | 1 | Jul 17, 2023 |
| MYSM1 | 1 | Jan 18, 2023 |
| MYT1 | 1 | Jul 17, 2023 |
| MYT1L | 5 | Jul 17, 2023 |
| NAA10 | 2 | Jul 17, 2023 |
| NAA15 | 6 | May 9, 2024 |
| NACC1 | 1 | Feb 2, 2024 |
| NAGA | 1 | Feb 10, 2022 |
| NAGLU | 3 | Apr 11, 2022 |
| NALCN | 4 | May 9, 2024 |
| NBEA | 3 | Feb 2, 2024 |
| NBN | 1 | Jul 12, 2022 |
| NCDN | 1 | Oct 17, 2023 |
| NCF4 | 1 | Aug 20, 2024 |
| NCKAP1 | 3 | May 26, 2023 |
| NDE1 | 1 | Oct 17, 2023 |
| NDN | 1 | Feb 10, 2022 |
| NDST2-ZSWIM8-AS1 | 1 | Oct 17, 2023 |
| NDUFA11 | 1 | Feb 10, 2022 |
| NDUFA9 | 1 | Feb 10, 2022 |
| NDUFB3 | 1 | Dec 18, 2020 |
| NDUFS1 | 1 | Feb 10, 2022 |
| NDUFS2 | 1 | Feb 10, 2022 |
| NDUFV1 | 2 | May 9, 2024 |
| NEB | 6 | Aug 20, 2024 |
| NEDD4L | 1 | May 9, 2024 |
| NEFL | 1 | May 26, 2023 |
| NEMF | 1 | Feb 10, 2022 |
| NEUROD2 | 2 | Feb 2, 2024 |
| NEXMIF | 1 | Feb 10, 2022 |
| NF1 | 46 | Nov 6, 2024 |
| NFIA | 2 | Oct 17, 2023 |
| NFIB | 1 | Feb 2, 2024 |
| NFIX | 1 | Feb 10, 2022 |
| NGLY1 | 1 | Jan 18, 2023 |
| NHLRC2 | 2 | Feb 10, 2022 |
| NIPBL | 5 | Aug 20, 2024 |
| NKTR | 1 | Feb 10, 2022 |
| NKX2-1 | 2 | Jul 12, 2022 |
| NKX2-4 | 1 | May 9, 2024 |
| NLGN1 | 2 | Feb 2, 2024 |
| NLRP12 | 1 | Aug 20, 2024 |
| NLRP3 | 1 | Jul 12, 2022 |
| NME9 | 1 | Feb 10, 2022 |
| NMNAT1 | 2 | Apr 11, 2022 |
| NOTCH1 | 4 | Oct 17, 2023 |
| NOTCH2 | 2 | Aug 20, 2024 |
| NPC1 | 6 | Jan 18, 2023 |
| NPHS1 | 1 | Feb 10, 2022 |
| NPRL2 | 1 | Dec 18, 2020 |
| NPTX1 | 1 | May 8, 2024 |
| NR0B1 | 1 | Jul 12, 2022 |
| NR2F1 | 2 | Oct 17, 2023 |
| NR2F1-AS1 | 1 | Jul 17, 2023 |
| NR2F2 | 1 | May 9, 2024 |
| NR3C2 | 1 | Feb 10, 2022 |
| NR4A2 | 1 | Oct 14, 2022 |
| NRAS | 4 | Feb 10, 2022 |
| NRF1 | 1 | Oct 14, 2022 |
| NRXN1 | 2 | Jul 17, 2023 |
| NRXN2 | 6 | Aug 20, 2024 |
| NSD1 | 7 | Feb 2, 2024 |
| NSD2 | 3 | May 9, 2024 |
| NSD3 | 1 | Feb 10, 2022 |
| NT5C2 | 1 | Apr 11, 2022 |
| NT5DC1 | 1 | May 9, 2024 |
| NTRK2 | 2 | Jul 17, 2023 |
| NUP93 | 1 | Feb 10, 2022 |
| NUS1 | 3 | Sep 11, 2020 |
| OAS1 | 1 | Feb 2, 2024 |
| OAT | 1 | Aug 20, 2024 |
| OBSCN | 3 | Jul 17, 2023 |
| OBSL1 | 2 | Feb 2, 2024 |
| OCA2 | 6 | Feb 2, 2024 |
| ODC1 | 1 | May 26, 2023 |
| OFD1 | 4 | Feb 2, 2024 |
| OPA1 | 2 | Feb 10, 2022 |
| OPA1-AS1 | 1 | Feb 10, 2022 |
| OPHN1 | 3 | Feb 2, 2024 |
| OSGEP | 5 | Apr 19, 2022 |
| OTC | 1 | Oct 17, 2023 |
| OTOF | 2 | Feb 10, 2022 |
| OTUD5 | 1 | Apr 11, 2022 |
| OTUD6B | 2 | May 26, 2023 |
| OTUD7A | 2 | Feb 2, 2024 |
| P2RY12 | 2 | Oct 17, 2023 |
| P3H1 | 1 | May 26, 2023 |
| PACS1 | 1 | Apr 11, 2022 |
| PACS2 | 1 | Feb 10, 2022 |
| PADI3 | 1 | Oct 17, 2023 |
| PAFAH1B1 | 1 | Feb 10, 2022 |
| PAH | 11 | Aug 20, 2024 |
| PAK3 | 1 | Dec 18, 2020 |
| PALB2 | 6 | Oct 17, 2023 |
| PANK2 | 2 | Oct 17, 2023 |
| PAOX | 1 | Jan 18, 2023 |
| PATJ | 2 | May 9, 2024 |
| PATL1 | 1 | Aug 20, 2024 |
| PAX1 | 2 | Feb 10, 2022 |
| PAX3 | 1 | Dec 18, 2020 |
| PAX6 | 3 | Oct 17, 2023 |
| PBX1 | 1 | Oct 14, 2022 |
| PCCB | 2 | May 26, 2023 |
| PCDH12 | 2 | May 26, 2023 |
| PCGF3 | 1 | May 9, 2024 |
| PCGF3-AS1 | 1 | May 9, 2024 |
| PCLO | 5 | May 9, 2024 |
| PCYT2 | 1 | Feb 10, 2022 |
| PDCD10 | 2 | Feb 2, 2024 |
| PDE4D | 1 | Feb 2, 2024 |
| PDE6B | 1 | Oct 17, 2023 |
| PDHA1 | 3 | Jul 17, 2023 |
| PDZD7 | 2 | Oct 17, 2023 |
| PEX1 | 1 | Feb 10, 2022 |
| PEX7 | 1 | Feb 10, 2022 |
| PGAP1 | 3 | Feb 2, 2024 |
| PHEX | 2 | Jul 17, 2023 |
| PHF1 | 1 | Jul 17, 2023 |
| PHF2 | 1 | Apr 11, 2022 |
| PHF21A | 2 | Oct 17, 2023 |
| PHF5A | 1 | Oct 17, 2023 |
| PHF6 | 1 | Apr 11, 2022 |
| PHF8 | 1 | Oct 17, 2023 |
| PHIP | 7 | May 9, 2024 |
| PI4KA | 2 | Oct 14, 2022 |
| PIBF1 | 2 | Aug 20, 2024 |
| PIDD1 | 2 | Aug 20, 2024 |
| PIEZO1 | 3 | May 26, 2023 |
| PIEZO2 | 1 | Aug 20, 2024 |
| PIGG | 1 | Jan 18, 2023 |
| PIGN | 2 | May 9, 2024 |
| PIGQ | 1 | Feb 2, 2024 |
| PIGT | 2 | Feb 10, 2022 |
| PIGV | 4 | Oct 17, 2023 |
| PIK3CA | 3 | Jul 12, 2022 |
| PIK3CD | 1 | Feb 10, 2022 |
| PIK3R1 | 1 | Feb 10, 2022 |
| PIK3R2 | 1 | Feb 10, 2022 |
| PKD1 | 17 | Aug 20, 2024 |
| PKD2 | 4 | Oct 14, 2022 |
| PKHD1 | 5 | Apr 11, 2022 |
| PKP2 | 4 | May 9, 2024 |
| PLA2G6 | 1 | Jul 12, 2022 |
| PLAA | 1 | Jan 18, 2023 |
| PLCH1 | 1 | Aug 20, 2024 |
| PLD1 | 1 | May 9, 2024 |
| PLEC | 2 | Jul 12, 2022 |
| PLEKHG5 | 2 | May 9, 2024 |
| PLEKHH2 | 1 | Oct 14, 2022 |
| PLOD1 | 1 | Feb 10, 2022 |
| PLOD2 | 1 | Oct 17, 2023 |
| PLP1 | 1 | Jul 17, 2023 |
| PLXNA1 | 2 | Oct 14, 2022 |
| PLXNA3 | 2 | May 9, 2024 |
| PMM2 | 4 | Jul 17, 2023 |
| PMPCB | 1 | Apr 11, 2022 |
| PMS2 | 1 | Aug 20, 2024 |
| PNKP | 1 | Feb 10, 2022 |
| POGZ | 7 | Aug 20, 2024 |
| POLA1 | 4 | Aug 20, 2024 |
| POLE | 4 | Oct 14, 2022 |
| POLG | 14 | Aug 20, 2024 |
| POLGARF | 14 | Aug 20, 2024 |
| POLK | 1 | Jan 18, 2023 |
| POLR1C | 4 | Oct 17, 2023 |
| POLR2A | 5 | May 9, 2024 |
| POLR2B | 1 | May 9, 2024 |
| POLR2F | 1 | Oct 14, 2022 |
| POLR3B | 4 | Aug 20, 2024 |
| POLRMT | 2 | Jul 17, 2023 |
| PORCN | 1 | Feb 9, 2021 |
| POU3F3 | 1 | Jan 18, 2023 |
| POU3F4 | 1 | Jul 17, 2023 |
| PPFIA3 | 1 | Dec 18, 2020 |
| PPIL6 | 1 | May 9, 2024 |
| PPL | 1 | Feb 2, 2024 |
| PPM1D | 4 | Oct 14, 2022 |
| PPP1R10 | 1 | Jan 18, 2023 |
| PPP1R12A | 1 | Feb 10, 2022 |
| PPP1R3F | 2 | May 9, 2024 |
| PPP2CA | 1 | Apr 11, 2022 |
| PPP2R1A | 1 | Feb 2, 2024 |
| PPP2R5D | 5 | May 9, 2024 |
| PPP3CA | 3 | May 26, 2023 |
| PQBP1 | 7 | Jun 7, 2022 |
| PRF1 | 2 | Feb 10, 2022 |
| PRICKLE1 | 3 | Aug 20, 2024 |
| PRICKLE2 | 2 | Jul 17, 2023 |
| PRIMPOL | 1 | Oct 17, 2023 |
| PRKAR1A | 1 | Jul 17, 2023 |
| PRKAR1B | 2 | Aug 20, 2024 |
| PRKAR1B-AS1 | 1 | Jul 17, 2023 |
| PRKDC | 1 | Jan 18, 2023 |
| PROKR2 | 1 | Jul 12, 2022 |
| PROS1 | 2 | Aug 20, 2024 |
| PRPF8 | 1 | May 9, 2024 |
| PRR12 | 8 | Oct 17, 2023 |
| PRRC2A | 1 | Jul 12, 2022 |
| PRRC2C | 1 | May 26, 2023 |
| PRRT2 | 1 | Jul 12, 2022 |
| PRSS12 | 1 | Apr 11, 2022 |
| PRSS23 | 1 | Aug 20, 2024 |
| PRTG | 2 | Jul 12, 2022 |
| PSMA1 | 1 | Feb 10, 2022 |
| PSMC2 | 2 | Jul 17, 2023 |
| PTCD3 | 1 | May 9, 2024 |
| PTCH1 | 2 | Feb 2, 2024 |
| PTCHD1 | 3 | Jul 17, 2023 |
| PTEN | 6 | Aug 20, 2024 |
| PTPN11 | 33 | Feb 2, 2024 |
| PTPN23 | 3 | Apr 11, 2022 |
| PTPN4 | 2 | May 9, 2024 |
| PTPRS | 1 | Jan 18, 2023 |
| PUM1 | 1 | Oct 14, 2022 |
| PURA | 2 | Feb 10, 2022 |
| PXDNL | 1 | May 9, 2024 |
| PYCR2 | 1 | Feb 10, 2022 |
| PYGL | 1 | May 26, 2023 |
| QARS1 | 2 | Feb 10, 2022 |
| QRICH1 | 8 | Aug 20, 2024 |
| RAB2A | 1 | Jan 18, 2023 |
| RAB33A | 1 | Apr 13, 2021 |
| RAB9B | 1 | Jul 17, 2023 |
| RAC1 | 1 | May 9, 2024 |
| RAC3 | 1 | Jan 18, 2023 |
| RAD21 | 2 | Aug 20, 2024 |
| RAD50 | 1 | Jan 18, 2023 |
| RAD51C | 2 | Apr 11, 2022 |
| RAD51D | 2 | May 9, 2024 |
| RAD51L3-RFFL | 2 | May 9, 2024 |
| RAF1 | 7 | May 9, 2024 |
| RAI1 | 4 | Aug 20, 2024 |
| RALA | 1 | Feb 10, 2022 |
| RALGAPA1 | 3 | Jul 17, 2023 |
| RALGAPA2 | 1 | Jan 18, 2023 |
| RALGPS2 | 2 | May 9, 2024 |
| RANBP2 | 4 | Feb 2, 2024 |
| RAPGEF1 | 1 | Feb 10, 2022 |
| RARA | 1 | Apr 11, 2022 |
| RARS1 | 1 | Feb 10, 2022 |
| RARS2 | 6 | Aug 20, 2024 |
| RASA1 | 1 | Feb 2, 2024 |
| RB1 | 2 | Jan 18, 2023 |
| RBM17 | 1 | Jul 17, 2023 |
| RECQL4 | 1 | Feb 10, 2022 |
| RELN | 6 | Oct 17, 2023 |
| RERE | 10 | Aug 20, 2024 |
| RET | 2 | Oct 17, 2023 |
| REV3L | 1 | Oct 17, 2023 |
| RFT1 | 1 | Feb 10, 2022 |
| RFX3 | 4 | Aug 20, 2024 |
| RFX7 | 1 | Feb 10, 2022 |
| RGS11 | 1 | Aug 20, 2024 |
| RHOBTB2 | 1 | Jul 17, 2023 |
| RIC1 | 2 | Aug 20, 2024 |
| RIF1 | 1 | Aug 20, 2024 |
| RIT1 | 1 | Oct 14, 2022 |
| RLIM | 1 | Apr 11, 2022 |
| RNASEH2B | 1 | Feb 10, 2022 |
| RNASEH2C | 2 | Jul 17, 2023 |
| RNF125 | 1 | Feb 10, 2022 |
| RNF14 | 2 | May 26, 2023 |
| RNF207 | 1 | Oct 17, 2023 |
| RNF213 | 2 | Aug 20, 2024 |
| RNF220 | 1 | May 9, 2024 |
| RNPS1 | 1 | Aug 20, 2024 |
| ROBO1 | 1 | Feb 2, 2024 |
| ROBO2 | 1 | Feb 10, 2022 |
| ROGDI | 1 | Oct 14, 2022 |
| RORA | 5 | May 9, 2024 |
| RORA-AS1 | 4 | May 9, 2024 |
| RPGRIP1L | 2 | Dec 18, 2020 |
| RPL36A-HNRNPH2 | 2 | Feb 2, 2024 |
| RPS19 | 2 | May 26, 2023 |
| RPS4X | 1 | Jan 18, 2023 |
| RPS6KA3 | 3 | May 26, 2023 |
| RPS6KB2 | 1 | May 9, 2024 |
| RREB1 | 3 | Jul 17, 2023 |
| RS1 | 1 | Jul 17, 2023 |
| RTTN | 1 | Jul 17, 2023 |
| RUNX2 | 2 | Aug 20, 2024 |
| RUSC2 | 4 | Oct 14, 2022 |
| RXRA | 1 | Dec 18, 2020 |
| RYR1 | 8 | Aug 20, 2024 |
| RYR2 | 2 | Oct 17, 2023 |
| SACS | 3 | Jul 12, 2022 |
| SAG | 3 | May 9, 2024 |
| SALL1 | 3 | Feb 2, 2024 |
| SALL4 | 1 | Feb 10, 2022 |
| SAMD9 | 1 | Oct 17, 2023 |
| SATB1 | 6 | Aug 20, 2024 |
| SATB2 | 2 | May 26, 2023 |
| SBF1 | 1 | Feb 10, 2022 |
| SBF2 | 1 | Feb 10, 2022 |
| SCAF4 | 5 | Feb 2, 2024 |
| SCAMP4 | 1 | Feb 10, 2022 |
| SCAPER | 2 | Apr 11, 2022 |
| SCN1A | 7 | Jul 17, 2023 |
| SCN2A | 8 | May 9, 2024 |
| SCN3A | 4 | Aug 20, 2024 |
| SCN4A | 3 | Oct 14, 2022 |
| SCN5A | 4 | Aug 20, 2024 |
| SCN8A | 5 | Feb 2, 2024 |
| SCN9A | 1 | Feb 10, 2022 |
| SCP2 | 2 | Oct 17, 2023 |
| SCRIB | 1 | Aug 20, 2024 |
| SDC3 | 1 | Feb 10, 2022 |
| SDCCAG8 | 1 | Jul 12, 2022 |
| SDHB | 1 | May 9, 2024 |
| SDHD | 2 | Oct 14, 2022 |
| SEC16A | 2 | Jul 17, 2023 |
| SEC24B | 1 | May 26, 2023 |
| SEC31A | 2 | Jul 12, 2022 |
| SECISBP2 | 1 | Jul 12, 2022 |
| SELENOO | 1 | Jan 18, 2023 |
| SEMA6B | 2 | Jan 18, 2022 |
| SEPTIN9 | 2 | May 9, 2024 |
| SERAC1 | 1 | Feb 10, 2022 |
| SERPINA1 | 2 | Jul 12, 2022 |
| SERPINC1 | 2 | Oct 17, 2023 |
| SERPING1 | 1 | Dec 18, 2020 |
| SET | 2 | May 26, 2023 |
| SETBP1 | 4 | Feb 2, 2024 |
| SETD1A | 7 | Aug 20, 2024 |
| SETD1B | 5 | Oct 17, 2023 |
| SETD2 | 9 | May 9, 2024 |
| SETD5 | 1 | Feb 10, 2022 |
| SETDB1 | 1 | Jul 17, 2023 |
| SF3B3 | 1 | Jul 17, 2023 |
| SFPQ | 1 | Feb 10, 2022 |
| SFTA3 | 2 | Jul 12, 2022 |
| SFXN3 | 1 | Aug 20, 2024 |
| SGSH | 1 | Apr 11, 2022 |
| SH2B1 | 1 | Jan 18, 2023 |
| SH2D1A | 1 | Jul 12, 2022 |
| SH3TC2 | 2 | May 9, 2024 |
| SHANK1 | 6 | Aug 20, 2024 |
| SHANK2 | 2 | Apr 11, 2022 |
| SHANK3 | 6 | May 9, 2024 |
| SHOC2 | 1 | Apr 11, 2022 |
| SHOX | 1 | May 9, 2024 |
| SHROOM2 | 3 | Jan 18, 2023 |
| SHROOM4 | 2 | Aug 20, 2024 |
| SI | 5 | Feb 2, 2024 |
| SIK1 | 1 | Jul 12, 2022 |
| SIN3A | 2 | Feb 10, 2022 |
| SIX1 | 1 | Oct 14, 2022 |
| SKI | 1 | Aug 20, 2024 |
| SKIC2 | 1 | Oct 17, 2023 |
| SLC12A1 | 1 | Feb 10, 2022 |
| SLC12A2 | 1 | May 26, 2023 |
| SLC12A3 | 4 | Oct 17, 2023 |
| SLC12A5 | 3 | Jul 17, 2023 |
| SLC13A5 | 1 | Apr 11, 2022 |
| SLC16A1 | 2 | Aug 20, 2024 |
| SLC19A1 | 2 | Feb 10, 2022 |
| SLC20A2 | 2 | Jan 18, 2023 |
| SLC25A14 | 1 | Jul 17, 2023 |
| SLC25A20 | 3 | Feb 10, 2022 |
| SLC25A46 | 1 | Feb 10, 2022 |
| SLC26A4 | 7 | Jan 18, 2023 |
| SLC26A4-AS1 | 1 | Jan 18, 2023 |
| SLC26A5 | 2 | Jul 17, 2023 |
| SLC26A5-AS1 | 3 | Oct 17, 2023 |
| SLC2A1 | 4 | May 9, 2024 |
| SLC34A1 | 2 | May 14, 2024 |
| SLC34A3 | 1 | May 26, 2023 |
| SLC35A2 | 1 | Feb 10, 2022 |
| SLC35D2-HSD17B3 | 1 | Jul 17, 2023 |
| SLC37A4 | 2 | Oct 17, 2023 |
| SLC39A8 | 1 | Aug 20, 2024 |
| SLC44A4 | 1 | Feb 10, 2022 |
| SLC45A1 | 2 | May 9, 2024 |
| SLC4A1 | 1 | Jul 12, 2022 |
| SLC52A2 | 2 | May 26, 2023 |
| SLC5A2 | 2 | Feb 10, 2022 |
| SLC5A5 | 2 | Jan 18, 2023 |
| SLC6A1 | 5 | Feb 2, 2024 |
| SLC6A1-AS1 | 2 | Feb 2, 2024 |
| SLC6A8 | 3 | May 26, 2023 |
| SLC9A6 | 1 | Oct 17, 2023 |
| SLC9A7 | 3 | Oct 14, 2022 |
| SLC9A9 | 1 | May 26, 2023 |
| SLC9C2 | 1 | Jan 18, 2023 |
| SLX4 | 2 | May 9, 2024 |
| SMAD3 | 2 | Apr 11, 2022 |
| SMAD4 | 2 | Oct 17, 2023 |
| SMARCA1 | 1 | Jul 12, 2022 |
| SMARCA2 | 2 | May 9, 2024 |
| SMARCA4 | 3 | Jan 18, 2023 |
| SMARCB1 | 2 | Oct 14, 2022 |
| SMARCC1 | 1 | May 9, 2024 |
| SMARCC2 | 4 | Oct 14, 2022 |
| SMARCE1 | 2 | May 26, 2023 |
| SMC1A | 2 | May 9, 2024 |
| SMC3 | 3 | Aug 20, 2024 |
| SMPD1 | 3 | Oct 17, 2023 |
| SMPD4 | 2 | Feb 2, 2024 |
| SMS | 1 | Feb 10, 2022 |
| SNAPC4 | 1 | Jul 17, 2023 |
| SND1 | 2 | Jul 17, 2023 |
| SNHG14 | 4 | Feb 2, 2024 |
| SNRK | 1 | Feb 10, 2022 |
| SNRK-AS1 | 1 | Feb 10, 2022 |
| SON | 4 | Feb 2, 2024 |
| SORD | 1 | Feb 10, 2022 |
| SOS1 | 16 | Jul 17, 2023 |
| SOS2 | 2 | Jan 18, 2023 |
| SOX10 | 1 | Oct 14, 2022 |
| SOX11 | 1 | May 9, 2024 |
| SOX2 | 2 | Aug 20, 2024 |
| SOX2-OT | 2 | Aug 20, 2024 |
| SOX4 | 1 | Feb 10, 2022 |
| SOX5 | 1 | Jul 17, 2023 |
| SOX6 | 2 | Jan 18, 2023 |
| SP4 | 1 | Oct 14, 2022 |
| SPAG9 | 1 | Oct 17, 2023 |
| SPAST | 2 | May 26, 2023 |
| SPEG | 2 | Jul 17, 2023 |
| SPEN | 9 | Feb 2, 2024 |
| SPG7 | 4 | Oct 17, 2023 |
| SPRED1 | 6 | Jul 17, 2023 |
| SPTA1 | 1 | May 26, 2023 |
| SPTAN1 | 8 | Aug 20, 2024 |
| SPTBN1 | 6 | Aug 20, 2024 |
| SPTBN1-AS2 | 1 | Jul 12, 2022 |
| SPTBN5 | 1 | Feb 2, 2024 |
| SPTLC2 | 1 | Jul 12, 2022 |
| SRCAP | 11 | Aug 20, 2024 |
| SRGAP1 | 1 | Aug 20, 2024 |
| SRPK3 | 1 | Feb 2, 2024 |
| SRPX | 1 | Feb 10, 2022 |
| SRRM2 | 3 | Aug 20, 2024 |
| SRSF1 | 1 | Feb 10, 2022 |
| SRSF7 | 1 | Feb 10, 2022 |
| SS18 | 1 | Feb 10, 2022 |
| STAG1 | 5 | May 9, 2024 |
| STAG2 | 2 | May 9, 2024 |
| STARD9 | 6 | Jul 17, 2023 |
| STEEP1 | 1 | Oct 17, 2023 |
| STIM1 | 1 | Dec 18, 2020 |
| STK10 | 1 | Aug 20, 2024 |
| STRA6 | 1 | Feb 10, 2022 |
| STRN4 | 1 | Jul 17, 2023 |
| STT3A | 2 | Jul 17, 2023 |
| STXBP1 | 4 | May 9, 2024 |
| STXBP2 | 3 | May 9, 2024 |
| SUMF1 | 3 | Jan 18, 2023 |
| SUPT16H | 2 | Feb 2, 2024 |
| SURF1 | 2 | May 9, 2024 |
| SUZ12 | 1 | Feb 10, 2022 |
| SYNE1 | 6 | Jul 17, 2023 |
| SYNGAP1 | 4 | Jul 17, 2023 |
| SYNGAP1-AS1 | 4 | Jul 17, 2023 |
| SYP | 1 | Feb 10, 2022 |
| SYT1 | 1 | Oct 14, 2022 |
| SYT2 | 1 | Aug 20, 2024 |
| SZT2 | 5 | Jul 17, 2023 |
| TAB2 | 2 | Jul 17, 2023 |
| TAF1 | 9 | Aug 20, 2024 |
| TANC2 | 6 | Aug 20, 2024 |
| TAOK1 | 10 | Aug 20, 2024 |
| TBCEL | 1 | Oct 17, 2023 |
| TBCEL-TECTA | 2 | Oct 17, 2023 |
| TBCK | 2 | Oct 14, 2022 |
| TBK1 | 2 | Aug 20, 2024 |
| TBL1XR1 | 3 | Jul 17, 2023 |
| TBL1XR1-AS1 | 1 | May 26, 2023 |
| TBR1 | 1 | Oct 17, 2023 |
| TBX1 | 5 | Jul 12, 2022 |
| TBX2 | 1 | Aug 20, 2024 |
| TBX5 | 1 | May 26, 2023 |
| TBXAS1 | 1 | May 9, 2024 |
| TBXT | 1 | Feb 10, 2022 |
| TCAP | 1 | Aug 20, 2024 |
| TCF12 | 2 | Feb 2, 2024 |
| TCF20 | 9 | Aug 20, 2024 |
| TCF4 | 3 | May 9, 2024 |
| TCF7L2 | 1 | May 26, 2023 |
| TCIRG1 | 3 | May 9, 2024 |
| TCOF1 | 1 | Feb 10, 2022 |
| TECPR2 | 2 | May 9, 2024 |
| TECR | 1 | Oct 17, 2023 |
| TECTA | 1 | Oct 17, 2023 |
| TELO2 | 3 | May 9, 2024 |
| TERT | 1 | Feb 10, 2022 |
| TET3 | 10 | Aug 20, 2024 |
| TFAP2A | 1 | Jan 18, 2023 |
| TFAP2A-AS2 | 1 | Jan 18, 2023 |
| TFAP2B | 1 | Feb 2, 2024 |
| TFE3 | 3 | Aug 20, 2024 |
| TFG | 1 | Jul 12, 2022 |
| TG | 2 | Oct 17, 2023 |
| TGDS | 1 | Feb 10, 2022 |
| TGFB3 | 2 | Feb 2, 2024 |
| TGFBR2 | 1 | Jan 18, 2023 |
| TGM5 | 1 | Feb 10, 2022 |
| TH | 1 | May 9, 2024 |
| THOC2 | 5 | Aug 20, 2024 |
| THRB | 1 | Aug 20, 2024 |
| TIAM1 | 1 | Jan 18, 2023 |
| TIMM8A | 1 | Jul 12, 2022 |
| TLK2 | 5 | Aug 20, 2024 |
| TLN1 | 1 | May 9, 2024 |
| TM9SF3 | 1 | Feb 10, 2022 |
| TMCO1 | 1 | Feb 10, 2022 |
| TMEM164 | 1 | Dec 18, 2020 |
| TMEM240 | 1 | May 9, 2024 |
| TMEM94 | 2 | May 26, 2023 |
| TMLHE | 1 | Jan 18, 2023 |
| TNC | 1 | Jan 18, 2023 |
| TNFRSF13B | 2 | Jul 17, 2023 |
| TNFRSF1A | 2 | Oct 14, 2022 |
| TNFRSF9 | 1 | Oct 14, 2022 |
| TNNT2 | 1 | Oct 14, 2022 |
| TNRC18 | 1 | Apr 11, 2022 |
| TNRC6B | 8 | May 9, 2024 |
| TNXB | 1 | Feb 2, 2024 |
| TOE1 | 1 | Apr 11, 2022 |
| TOGARAM1 | 2 | Jul 12, 2022 |
| TOP2B | 1 | Dec 18, 2020 |
| TOR1A | 1 | Aug 20, 2024 |
| TP53 | 1 | Feb 2, 2024 |
| TP53RK | 2 | Apr 11, 2022 |
| TP63 | 2 | Dec 18, 2020 |
| TPM2 | 1 | Jul 12, 2022 |
| TPM3 | 1 | Feb 10, 2022 |
| TPO | 2 | Jul 12, 2022 |
| TPP1 | 1 | May 9, 2024 |
| TRAK1 | 2 | Feb 10, 2022 |
| TRAK2 | 1 | Jul 12, 2022 |
| TRAPPC10 | 2 | Oct 17, 2023 |
| TRAPPC12 | 1 | Feb 2, 2024 |
| TRAPPC4 | 1 | Jan 18, 2023 |
| TRIM71 | 1 | Aug 20, 2024 |
| TRIM8 | 2 | Jul 12, 2022 |
| TRIO | 18 | May 9, 2024 |
| TRIP12 | 7 | May 26, 2023 |
| TRMT1 | 4 | Feb 2, 2024 |
| TRPM3 | 2 | May 9, 2024 |
| TRPM7 | 1 | Jan 18, 2023 |
| TRPS1 | 3 | Feb 2, 2024 |
| TRPV4 | 1 | Jul 17, 2023 |
| TRPV6 | 1 | Feb 10, 2022 |
| TRRAP | 20 | Aug 20, 2024 |
| TSC1 | 4 | Aug 20, 2024 |
| TSC2 | 5 | Feb 2, 2024 |
| TSEN2 | 1 | May 9, 2024 |
| TSEN54 | 1 | Oct 22, 2024 |
| TSHB | 1 | Jan 18, 2023 |
| TSHR | 1 | Jul 17, 2023 |
| TSPAN12 | 1 | Feb 10, 2022 |
| TTC19 | 1 | Dec 18, 2020 |
| TTC7A | 5 | Oct 14, 2022 |
| TTN | 4 | May 26, 2023 |
| TTN-AS1 | 1 | Feb 10, 2022 |
| TUBA1A | 3 | Feb 2, 2024 |
| TUBB2A | 1 | Feb 10, 2022 |
| TUBB2B | 1 | Apr 11, 2022 |
| TUBB3 | 3 | May 9, 2024 |
| TUBG1 | 1 | Jul 12, 2022 |
| TUSC3 | 1 | Oct 14, 2022 |
| TWIST1 | 2 | May 9, 2024 |
| TWNK | 1 | Jul 17, 2023 |
| TYR | 3 | Oct 17, 2023 |
| TYRP1 | 4 | Feb 10, 2022 |
| UBA1 | 1 | Feb 2, 2024 |
| UBE2A | 1 | Jul 12, 2022 |
| UBE3A | 4 | Feb 2, 2024 |
| UBE3B | 2 | Feb 10, 2022 |
| UBE4A | 1 | May 26, 2023 |
| UBE4B | 1 | Jul 17, 2023 |
| UBR4 | 1 | Aug 20, 2024 |
| UBTF | 2 | Aug 20, 2024 |
| UCP3 | 1 | Apr 11, 2022 |
| UGP2 | 2 | Jul 17, 2023 |
| UGT1A | 1 | Jul 12, 2022 |
| UGT1A1 | 1 | Jul 12, 2022 |
| UGT1A10 | 1 | Jul 12, 2022 |
| UGT1A3 | 1 | Jul 12, 2022 |
| UGT1A4 | 1 | Jul 12, 2022 |
| UGT1A5 | 1 | Jul 12, 2022 |
| UGT1A6 | 1 | Jul 12, 2022 |
| UGT1A7 | 1 | Jul 12, 2022 |
| UGT1A8 | 1 | Jul 12, 2022 |
| UGT1A9 | 1 | Jul 12, 2022 |
| UMOD | 1 | Feb 10, 2022 |
| UNC13A | 2 | Aug 20, 2024 |
| UNC79 | 4 | Aug 20, 2024 |
| UNK | 1 | Feb 10, 2022 |
| UPF3B | 2 | Jul 12, 2022 |
| UQCRC1 | 1 | Apr 11, 2022 |
| URB1 | 1 | Jul 12, 2022 |
| USH1C | 1 | Feb 10, 2022 |
| USH2A | 8 | Aug 20, 2024 |
| USH2A-AS1 | 1 | Dec 18, 2020 |
| USH2A-AS2 | 2 | Aug 20, 2024 |
| USP19 | 1 | Jan 18, 2023 |
| USP7 | 1 | Feb 10, 2022 |
| USP9X | 2 | Oct 17, 2023 |
| UTP14C | 2 | Oct 14, 2022 |
| VARS1 | 1 | Feb 10, 2022 |
| VCP | 1 | Feb 10, 2022 |
| VHL | 1 | Feb 10, 2022 |
| VPS13B | 7 | Jan 18, 2023 |
| VPS39 | 1 | Feb 2, 2024 |
| VPS51 | 1 | Feb 10, 2022 |
| VPS52 | 2 | Jul 12, 2022 |
| VPS53 | 1 | Oct 14, 2022 |
| VWF | 3 | Feb 2, 2024 |
| WAC | 4 | May 9, 2024 |
| WASF1 | 1 | Oct 14, 2022 |
| WDFY3 | 10 | Aug 20, 2024 |
| WDFY3-AS1 | 1 | Oct 14, 2022 |
| WDR11 | 1 | Aug 20, 2024 |
| WDR26 | 2 | Aug 20, 2024 |
| WDR37 | 2 | Aug 20, 2024 |
| WDR44 | 1 | Feb 10, 2022 |
| WDR45 | 4 | May 9, 2024 |
| WFS1 | 7 | Feb 2, 2024 |
| WHRN | 1 | Feb 10, 2022 |
| WNK3 | 2 | May 9, 2024 |
| WNT10A | 5 | May 9, 2024 |
| WT1 | 2 | May 26, 2023 |
| WWC1 | 1 | May 9, 2024 |
| XKR6 | 1 | Oct 14, 2022 |
| XYLT2 | 2 | Aug 20, 2024 |
| YEATS2 | 1 | Feb 10, 2022 |
| YY1 | 3 | May 9, 2024 |
| YY1AP1 | 1 | May 9, 2024 |
| YY2 | 1 | Jul 12, 2022 |
| ZBTB11 | 2 | May 9, 2024 |
| ZBTB18 | 2 | Oct 14, 2022 |
| ZBTB47-AS1 | 1 | Feb 10, 2022 |
| ZBTB7A | 1 | Jul 17, 2023 |
| ZCCHC8 | 1 | Jan 18, 2023 |
| ZDHHC15 | 1 | Aug 20, 2024 |
| ZEB2 | 5 | Feb 2, 2024 |
| ZFHX4 | 1 | May 26, 2023 |
| ZFP28 | 1 | Aug 20, 2024 |
| ZFR | 2 | May 9, 2024 |
| ZFYVE26 | 1 | Feb 10, 2022 |
| ZGRF1 | 1 | Aug 20, 2024 |
| ZMIZ1 | 12 | May 9, 2024 |
| ZMYM2 | 5 | Dec 1, 2023 |
| ZMYM3 | 4 | Feb 2, 2024 |
| ZMYND10 | 2 | May 9, 2024 |
| ZMYND11 | 4 | Aug 20, 2024 |
| ZMYND8 | 3 | Aug 20, 2024 |
| ZNF142 | 3 | Aug 20, 2024 |
| ZNF148 | 2 | May 9, 2024 |
| ZNF287 | 1 | Oct 14, 2022 |
| ZNF292 | 10 | Feb 2, 2024 |
| ZNF318 | 1 | Aug 20, 2024 |
| ZNF407 | 2 | Feb 2, 2024 |
| ZNF462 | 8 | Feb 2, 2024 |
| ZNF469 | 1 | Jul 17, 2023 |
| ZNF687 | 1 | Oct 17, 2023 |
| ZNF699 | 3 | May 26, 2023 |
| ZNF711 | 1 | Feb 2, 2024 |
| ZNF774 | 1 | Feb 10, 2022 |
| ZNF777 | 1 | Jul 17, 2023 |
| ZNF800 | 1 | Aug 20, 2024 |
| ZSWIM6 | 2 | Oct 17, 2023 |
| ZSWIM8 | 1 | Oct 17, 2023 |
| ZSWIM8-AS1 | 1 | Oct 17, 2023 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3-Methylglutaconic aciduria type 2 | 2 tests |
| 3-Methylglutaconic aciduria type 3 | 1 test |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 1 test |
| 3-methylglutaconic aciduria type 1 | 1 test |
| 46,XY sex reversal 2 | 1 test |
| 4p partial monosomy syndrome | 2 tests |
| 7q11.23 microduplication syndrome | 2 tests |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 3 tests |
| ALG1-congenital disorder of glycosylation | 1 test |
| ALG9 congenital disorder of glycosylation | 1 test |
| ANKRD1-related dilated cardiomyopathy | 1 test |
| Aarskog syndrome | 1 test |
| Abortive cerebellar ataxia | 1 test |
| Absence seizure | 1 test |
| Achondrogenesis type II | 1 test |
| Achondroplasia | 2 tests |
| Achromatopsia 2 | 1 test |
| Achromatopsia 3 | 1 test |
| Achromatopsia 4 | 1 test |
| Achromatopsia 7 | 1 test |
| Acrocephalosyndactyly type I | 2 tests |
| Actin accumulation myopathy | 2 tests |
| Action myoclonus-renal failure syndrome | 1 test |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 test |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 test |
| Acyl-CoA oxidase deficiency | 1 test |
| Adenylosuccinate lyase deficiency | 1 test |
| Adrenoleukodystrophy | 2 tests |
| Adult-onset foveomacular vitelliform dystrophy | 3 tests |
| Age related macular degeneration 1 | 1 test |
| Age related macular degeneration 2 | 1 test |
| Age related macular degeneration 6 | 1 test |
| Agenesis of the corpus callosum with peripheral neuropathy | 1 test |
| Aicardi-Goutieres syndrome 1 | 1 test |
| Aicardi-Goutieres syndrome 2 | 1 test |
| Aicardi-Goutieres syndrome 5 | 1 test |
| Aicardi-Goutieres syndrome 6 | 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 |
| Allan-Herndon-Dudley syndrome | 1 test |
| Alpha thalassemia-X-linked intellectual disability syndrome | 2 tests |
| Alpha-1-antitrypsin deficiency | 2 tests |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 1 test |
| Alpha-methylacyl-CoA racemase deficiency | 1 test |
| Alstrom syndrome | 3 tests |
| Alternating hemiplegia of childhood 1 | 1 test |
| Amelocerebrohypohidrotic syndrome | 1 test |
| Amish lethal microcephaly | 1 test |
| Amyloidosis, hereditary systemic 1 | 3 tests |
| Amyotrophic lateral sclerosis type 11 | 2 tests |
| Amyotrophic lateral sclerosis type 21 | 1 test |
| Amyotrophic lateral sclerosis type 4 | 1 test |
| Andersen Tawil syndrome | 2 tests |
| Aneurysm-osteoarthritis syndrome | 2 tests |
| Angelman syndrome | 7 tests |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 test |
| Anterior segment dysgenesis 1 | 1 test |
| Aortic aneurysm, familial thoracic 4 | 2 tests |
| Aortic aneurysm, familial thoracic 6 | 2 tests |
| Aortic aneurysm, familial thoracic 7 | 2 tests |
| Aortic valve disease 1 | 2 tests |
| Arginine:glycine amidinotransferase deficiency | 1 test |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2 tests |
| Arrhythmogenic right ventricular dysplasia 1 | 1 test |
| Arrhythmogenic right ventricular dysplasia 10 | 3 tests |
| Arrhythmogenic right ventricular dysplasia 11 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 12 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 2 | 3 tests |
| Arrhythmogenic right ventricular dysplasia 5 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 8 | 2 tests |
| Arrhythmogenic right ventricular dysplasia 9 | 4 tests |
| Arterial tortuosity syndrome | 2 tests |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 1 test |
| Arthrogryposis, distal, type 1A | 2 tests |
| Arthrogryposis, distal, type 1B | 1 test |
| Arthrogryposis, distal, with impaired proprioception and touch | 1 test |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 1 test |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 test |
| Arthyrgryposis, distal, type 2B | 1 test |
| Aspartylglucosaminuria | 2 tests |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
| Atrial fibrillation, familial, 10 | 4 tests |
| Atrial fibrillation, familial, 12 | 2 tests |
| Atrial fibrillation, familial, 13 | 2 tests |
| Atrial fibrillation, familial, 14 | 2 tests |
| Atrial fibrillation, familial, 3 | 2 tests |
| Atrial fibrillation, familial, 4 | 2 tests |
| Atrial fibrillation, familial, 7 | 3 tests |
| Atrial fibrillation, familial, 9 | 2 tests |
| Atrial septal defect 3 | 2 tests |
| Atrial septal defect 5 | 3 tests |
| Atrial septal defect 7 | 1 test |
| Autism spectrum disorder | 1 test |
| Autoimmune interstitial lung disease-arthritis syndrome | 2 tests |
| Autoinflammatory syndrome, familial, Behcet-like | 1 test |
| Autosomal dominant Alport syndrome | 1 test |
| Autosomal dominant Charcot-Marie-Tooth disease type 2M | 2 tests |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 1 test |
| Autosomal dominant auditory neuropathy 1 | 1 test |
| Autosomal dominant centronuclear myopathy | 2 tests |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 4 tests |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 2 tests |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 test |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 13 | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 21 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 28 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 3A | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 40 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 44 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 50 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 51 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 6 | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 64 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 67 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 68 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 69 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 7 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 70 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 test |
| Autosomal dominant optic atrophy classic form | 2 tests |
| Autosomal dominant vitreoretinochoroidopathy | 2 tests |
| Autosomal recessive Alport syndrome | 1 test |
| Autosomal recessive amelia | 2 tests |
| Autosomal recessive ataxia, Beauce type | 1 test |
| Autosomal recessive axonal neuropathy with neuromyotonia | 2 tests |
| Autosomal recessive bestrophinopathy | 1 test |
| Autosomal recessive complex spastic paraplegia type 9B | 1 test |
| Autosomal recessive distal spinal muscular atrophy 1 | 2 tests |
| Autosomal recessive dyskeratosis congenita 4 | 2 tests |
| Autosomal recessive inherited pseudoxanthoma elasticum | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2Y | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 1 test |
| Autosomal recessive multiple pterygium syndrome | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 101 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 102 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 103 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 104 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 16 | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1A | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 32 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 35 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 37 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 39 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 42 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 53 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 6 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 66 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 68 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 77 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 88 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 89 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 91 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 93 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 98 | 1 test |
| Autosomal recessive optic atrophy, OPA7 type | 1 test |
| Autosomal recessive polycystic kidney disease | 1 test |
| Autosomal recessive proximal renal tubular acidosis | 1 test |
| Autosomal recessive spastic paraplegia type 76 | 1 test |
| Autosomal recessive spastic paraplegia type 78 | 1 test |
| Autosomal recessive spinocerebellar ataxia 12 | 1 test |
| Axenfeld-Rieger syndrome type 1 | 1 test |
| Ayme-Gripp syndrome | 1 test |
| Azorean disease | 2 tests |
| Bailey-Bloch congenital myopathy | 1 test |
| Bannayan-Riley-Ruvalcaba syndrome | 2 tests |
| Baraitser-winter syndrome 2 | 1 test |
| Bardet-Biedl syndrome 1 | 2 tests |
| Bardet-Biedl syndrome 10 | 1 test |
| Bardet-Biedl syndrome 11 | 1 test |
| Bardet-Biedl syndrome 12 | 1 test |
| Bardet-Biedl syndrome 13 | 2 tests |
| Bardet-Biedl syndrome 14 | 1 test |
| Bardet-Biedl syndrome 15 | 1 test |
| Bardet-Biedl syndrome 16 | 1 test |
| Bardet-Biedl syndrome 17 | 1 test |
| Bardet-Biedl syndrome 18 | 1 test |
| Bardet-Biedl syndrome 19 | 1 test |
| Bardet-Biedl syndrome 2 | 1 test |
| Bardet-Biedl syndrome 3 | 1 test |
| Bardet-Biedl syndrome 4 | 1 test |
| Bardet-Biedl syndrome 5 | 1 test |
| Bardet-Biedl syndrome 6 | 1 test |
| Bardet-Biedl syndrome 7 | 1 test |
| Bardet-Biedl syndrome 8 | 2 tests |
| Bardet-Biedl syndrome 9 | 1 test |
| Bardet-biedl syndrome 21 | 1 test |
| Bartsocas-Papas syndrome 1 | 1 test |
| Bartter disease type 3 | 1 test |
| Bartter disease type 4A | 1 test |
| Bartter disease type 4B | 1 test |
| Beare-Stevenson cutis gyrata syndrome | 2 tests |
| Becker muscular dystrophy | 2 tests |
| Beckwith-Wiedemann syndrome | 6 tests |
| Benign recurrent intrahepatic cholestasis type 1 | 1 test |
| Benign recurrent intrahepatic cholestasis type 2 | 1 test |
| Beta-D-mannosidosis | 2 tests |
| Bethlem myopathy 1A | 1 test |
| Bethlem myopathy 2 | 1 test |
| Bietti crystalline corneoretinal dystrophy | 1 test |
| Bifunctional peroxisomal enzyme deficiency | 1 test |
| Bile acid malabsorption, primary, 1 | 1 test |
| Biotinidase deficiency | 2 tests |
| Birt-Hogg-Dube syndrome | 1 test |
| Bone fragility with contractures, arterial rupture, and deafness | 1 test |
| Borjeson-Forssman-Lehmann syndrome | 3 tests |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 test |
| Brachydactyly-elbow wrist dysplasia syndrome | 1 test |
| Brain small vessel disease 1 with or without ocular anomalies | 1 test |
| Brain-lung-thyroid syndrome | 3 tests |
| Branchiootic syndrome 1 | 1 test |
| Branchiootorenal syndrome 1 | 1 test |
| Brittle cornea syndrome 1 | 1 test |
| Brittle cornea syndrome 2 | 1 test |
| Brody myopathy | 2 tests |
| Bronchiectasis with or without elevated sweat chloride 1 | 2 tests |
| Bronchiectasis with or without elevated sweat chloride 2 | 2 tests |
| Brown-Vialetto-van Laere syndrome 1 | 1 test |
| Brown-Vialetto-van Laere syndrome 2 | 1 test |
| Bruck syndrome 1 | 1 test |
| Bruck syndrome 2 | 1 test |
| Brugada syndrome | 1 test |
| Brugada syndrome 1 | 4 tests |
| Brugada syndrome 2 | 2 tests |
| Brugada syndrome 3 | 3 tests |
| Brugada syndrome 4 | 2 tests |
| Brugada syndrome 5 | 2 tests |
| Brugada syndrome 6 | 2 tests |
| Brugada syndrome 7 | 2 tests |
| Brugada syndrome 8 | 2 tests |
| Brugada syndrome 9 | 2 tests |
| CBL-related disorder | 2 tests |
| CHARGE syndrome | 4 tests |
| CLAPO syndrome | 1 test |
| CLOVES syndrome | 1 test |
| COACH syndrome | 1 test |
| Cantu syndrome, KCNJ8 related | 2 tests |
| Capillary malformation-arteriovenous malformation syndrome | 2 tests |
| Cardiac arrhythmia, ankyrin-B-related | 2 tests |
| Cardiofaciocutaneous syndrome 1 | 1 test |
| Cardiofaciocutaneous syndrome 2 | 1 test |
| Cardiofaciocutaneous syndrome 3 | 2 tests |
| Cardiofaciocutaneous syndrome 4 | 2 tests |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2 tests |
| Cardiomyopathy, familial restrictive, 1 | 3 tests |
| Cardiomyopathy, familial restrictive, 3 | 3 tests |
| Carnitine acylcarnitine translocase deficiency | 1 test |
| Carnitine palmitoyl transferase 1A deficiency | 1 test |
| Carnitine palmitoyltransferase II deficiency | 2 tests |
| Cataract 11 multiple types | 1 test |
| Cataract 21 multiple types | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 3 tests |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 3 tests |
| Catecholaminergic polymorphic ventricular tachycardia 4 | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 3 tests |
| Central core myopathy | 1 test |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 2 tests |
| Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | 1 test |
| Centronuclear myopathy | 1 test |
| Cerebellar atrophy with seizures and variable developmental delay | 1 test |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 1 test |
| Cerebral cavernous malformation | 1 test |
| Cerebral cavernous malformation 2 | 1 test |
| Cerebral cavernous malformation 3 | 1 test |
| Cerebral cavernous malformation 4 | 1 test |
| Cerebral creatine deficiency syndrome | 1 test |
| Cerebrooculofacioskeletal syndrome 1 | 1 test |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 3 tests |
| Ceroid lipofuscinosis, neuronal, 6A | 2 tests |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 test |
| Charcot-Marie-Tooth disease X-linked dominant 6 | 1 test |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 2 tests |
| Charcot-Marie-Tooth disease X-linked recessive 5 | 1 test |
| Charcot-Marie-Tooth disease axonal type 2C | 2 tests |
| Charcot-Marie-Tooth disease axonal type 2CC | 1 test |
| Charcot-Marie-Tooth disease axonal type 2F | 2 tests |
| Charcot-Marie-Tooth disease axonal type 2K | 1 test |
| Charcot-Marie-Tooth disease axonal type 2L | 2 tests |
| Charcot-Marie-Tooth disease axonal type 2N | 1 test |
| Charcot-Marie-Tooth disease axonal type 2O | 2 tests |
| Charcot-Marie-Tooth disease axonal type 2P | 1 test |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 test |
| Charcot-Marie-Tooth disease axonal type 2S | 2 tests |
| Charcot-Marie-Tooth disease axonal type 2T | 1 test |
| Charcot-Marie-Tooth disease axonal type 2U | 2 tests |
| Charcot-Marie-Tooth disease axonal type 2X | 1 test |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate B | 3 tests |
| Charcot-Marie-Tooth disease dominant intermediate C | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate F | 1 test |
| Charcot-Marie-Tooth disease recessive intermediate B | 1 test |
| Charcot-Marie-Tooth disease recessive intermediate C | 2 tests |
| Charcot-Marie-Tooth disease recessive intermediate D | 1 test |
| Charcot-Marie-Tooth disease type 1B | 1 test |
| Charcot-Marie-Tooth disease type 1C | 1 test |
| Charcot-Marie-Tooth disease type 1D | 1 test |
| Charcot-Marie-Tooth disease type 1E | 1 test |
| Charcot-Marie-Tooth disease type 1F | 1 test |
| Charcot-Marie-Tooth disease type 2A1 | 1 test |
| Charcot-Marie-Tooth disease type 2A2 | 2 tests |
| Charcot-Marie-Tooth disease type 2B | 1 test |
| Charcot-Marie-Tooth disease type 2B1 | 3 tests |
| Charcot-Marie-Tooth disease type 2B2 | 1 test |
| Charcot-Marie-Tooth disease type 2D | 2 tests |
| Charcot-Marie-Tooth disease type 2E | 1 test |
| Charcot-Marie-Tooth disease type 2I | 1 test |
| Charcot-Marie-Tooth disease type 2J | 1 test |
| Charcot-Marie-Tooth disease type 2R | 1 test |
| Charcot-Marie-Tooth disease type 2Y | 2 tests |
| Charcot-Marie-Tooth disease type 4A | 1 test |
| Charcot-Marie-Tooth disease type 4B1 | 1 test |
| Charcot-Marie-Tooth disease type 4B2 | 2 tests |
| Charcot-Marie-Tooth disease type 4B3 | 1 test |
| Charcot-Marie-Tooth disease type 4C | 1 test |
| Charcot-Marie-Tooth disease type 4D | 1 test |
| Charcot-Marie-Tooth disease type 4F | 1 test |
| Charcot-Marie-Tooth disease type 4H | 1 test |
| Charcot-Marie-Tooth disease type 4J | 2 tests |
| Charcot-Marie-Tooth disease type 4K | 2 tests |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 tests |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 1 test |
| Charcot-Marie-Tooth disease, type IA | 2 tests |
| Charlevoix-Saguenay spastic ataxia | 1 test |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 test |
| Cholestanol storage disease | 1 test |
| Cholestasis, intrahepatic, of pregnancy, 1 | 1 test |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 test |
| Cholestasis, progressive familial intrahepatic, 4 | 1 test |
| Cholestasis, progressive familial intrahepatic, 5 | 1 test |
| Chondrodysplasia Blomstrand type | 1 test |
| Choroidal dystrophy, central areolar 2 | 1 test |
| Choroideremia | 1 test |
| Christianson syndrome | 1 test |
| Chudley-McCullough syndrome | 1 test |
| Chédiak-Higashi syndrome | 1 test |
| Ciliary dyskinesia, primary, 37 | 2 tests |
| Ciliary dyskinesia, primary, 42 | 2 tests |
| Citrullinemia | 1 test |
| Citrullinemia type II | 1 test |
| Classic homocystinuria | 2 tests |
| Clubfoot | 1 test |
| Coffin Siris/Intellectual Disability | 2 tests |
| Coffin-Lowry syndrome | 1 test |
| Coffin-Siris syndrome 1 | 2 tests |
| Coffin-Siris syndrome 5 | 1 test |
| Coffin-Siris syndrome 6 | 1 test |
| Cohen-Gibson syndrome | 3 tests |
| Combined deficiency of sialidase AND beta galactosidase | 3 tests |
| Combined immunodeficiency due to DOCK8 deficiency | 1 test |
| Combined oxidative phosphorylation defect type 13 | 1 test |
| Combined oxidative phosphorylation defect type 24 | 1 test |
| Combined oxidative phosphorylation defect type 7 | 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 5 | 1 test |
| Compton-North congenital myopathy | 2 tests |
| Cone dystrophy 3 | 1 test |
| Cone dystrophy 4 | 1 test |
| Cone dystrophy with supernormal rod response | 1 test |
| Cone-rod dystrophy 10 | 1 test |
| Cone-rod dystrophy 11 | 1 test |
| Cone-rod dystrophy 12 | 1 test |
| Cone-rod dystrophy 13 | 1 test |
| Cone-rod dystrophy 15 | 2 tests |
| Cone-rod dystrophy 16 | 1 test |
| Cone-rod dystrophy 18 | 1 test |
| Cone-rod dystrophy 19 | 1 test |
| Cone-rod dystrophy 2 | 1 test |
| Cone-rod dystrophy 20 | 1 test |
| Cone-rod dystrophy 21 | 1 test |
| Cone-rod dystrophy 3 | 1 test |
| Cone-rod dystrophy 5 | 1 test |
| Cone-rod dystrophy 6 | 2 tests |
| Cone-rod dystrophy 7 | 1 test |
| Cone-rod dystrophy 9 | 1 test |
| Cone-rod dystrophy and hearing loss 1 | 1 test |
| Cone-rod dystrophy and hearing loss 2 | 1 test |
| Cone-rod synaptic disorder, congenital nonprogressive | 2 tests |
| Congenital bile acid synthesis defect 1 | 1 test |
| Congenital bile acid synthesis defect 2 | 1 test |
| Congenital bile acid synthesis defect 3 | 1 test |
| Congenital bile acid synthesis defect 4 | 1 test |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 test |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 test |
| Congenital central hypoventilation | 2 tests |
| Congenital contractural arachnodactyly | 3 tests |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 test |
| Congenital diarrhea 5 with tufting enteropathy | 1 test |
| Congenital disorder of glycosylation | 1 test |
| Congenital disorder of glycosylation type 1E | 1 test |
| Congenital dyserythropoietic anemia type 4 | 1 test |
| Congenital dyserythropoietic anemia, type I | 1 test |
| Congenital dyserythropoietic anemia, type II | 1 test |
| Congenital dyserythropoietic anemia, type III | 1 test |
| Congenital generalized lipodystrophy type 4 | 1 test |
| Congenital hypomyelinating neuropathy | 1 test |
| Congenital hypotrichosis with juvenile macular dystrophy | 1 test |
| Congenital lactase deficiency | 1 test |
| Congenital macrodactylia | 1 test |
| Congenital malabsorptive diarrhea 4 | 1 test |
| Congenital microvillous atrophy | 1 test |
| Congenital multicore myopathy with external ophthalmoplegia | 1 test |
| Congenital muscular dystrophy due to LMNA mutation | 2 tests |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 1 test |
| Congenital muscular dystrophy due to partial LAMA2 deficiency | 1 test |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | 1 test |
| Congenital muscular hypertrophy-cerebral syndrome | 3 tests |
| Congenital myasthenic syndrome 10 | 2 tests |
| Congenital myasthenic syndrome 11 | 2 tests |
| Congenital myasthenic syndrome 14 | 1 test |
| Congenital myasthenic syndrome 16 | 1 test |
| Congenital myasthenic syndrome 20 | 2 tests |
| Congenital myasthenic syndrome 21 | 1 test |
| Congenital myasthenic syndrome 2A | 2 tests |
| Congenital myasthenic syndrome 2C | 2 tests |
| Congenital myasthenic syndrome 3A | 1 test |
| Congenital myasthenic syndrome 3B | 1 test |
| Congenital myasthenic syndrome 3C | 1 test |
| Congenital myasthenic syndrome 4A | 1 test |
| Congenital myasthenic syndrome 4B | 1 test |
| Congenital myasthenic syndrome 4C | 2 tests |
| Congenital myasthenic syndrome 5 | 1 test |
| Congenital myasthenic syndrome 9 | 2 tests |
| Congenital myopathy 23 | 2 tests |
| Congenital myopathy 4A, autosomal dominant | 2 tests |
| Congenital myopathy 4B, autosomal recessive | 2 tests |
| Congenital myopathy with fiber type disproportion | 2 tests |
| Congenital myopathy with internal nuclei and atypical cores | 1 test |
| Congenital myotonia, autosomal dominant form | 1 test |
| Congenital myotonia, autosomal recessive form | 1 test |
| Congenital primary aphakia | 1 test |
| Congenital secretory diarrhea, chloride type | 1 test |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 test |
| Congenital sodium diarrhea | 1 test |
| Congenital stationary night blindness | 1 test |
| Congenital stationary night blindness 1A | 1 test |
| Congenital stationary night blindness 1B | 1 test |
| Congenital stationary night blindness 1C | 1 test |
| Congenital stationary night blindness 1D | 1 test |
| Congenital stationary night blindness 1E | 1 test |
| Congenital stationary night blindness 1F | 1 test |
| Congenital stationary night blindness 1G | 1 test |
| Congenital stationary night blindness 1H | 1 test |
| Congenital stationary night blindness 2A | 1 test |
| Congenital stationary night blindness autosomal dominant 1 | 2 tests |
| Congenital stationary night blindness autosomal dominant 2 | 1 test |
| Congenital stationary night blindness autosomal dominant 3 | 1 test |
| Conotruncal heart malformations | 1 test |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 test |
| Cornelia de Lange syndrome 1 | 2 tests |
| Cornelia de Lange syndrome 3 | 2 tests |
| Cornelia de Lange syndrome 4 | 2 tests |
| Cornelia de Lange syndrome 5 | 2 tests |
| Cortical dysplasia-focal epilepsy syndrome | 1 test |
| Costello syndrome | 5 tests |
| Cowden syndrome | 1 test |
| Cowden syndrome 1 | 2 tests |
| Cowden syndrome 5 | 1 test |
| Coxopodopatellar syndrome | 2 tests |
| Creatine transporter deficiency | 1 test |
| Crigler-Najjar syndrome type 1 | 1 test |
| Crigler-Najjar syndrome, type II | 1 test |
| Crouzon syndrome | 2 tests |
| Crouzon syndrome-acanthosis nigricans syndrome | 1 test |
| Cutaneous porphyria | 1 test |
| Cutis laxa with osteodystrophy | 1 test |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 1 test |
| Cutis laxa, X-linked | 2 tests |
| Cutis laxa, autosomal dominant 1 | 3 tests |
| Cutis laxa, autosomal dominant 2 | 2 tests |
| Cutis laxa, autosomal recessive, type 1A | 3 tests |
| Cutis laxa, autosomal recessive, type 1B | 1 test |
| Cyclical neutropenia | 1 test |
| Cystic fibrosis | 4 tests |
| DK1-congenital disorder of glycosylation | 2 tests |
| DNA ligase IV deficiency | 1 test |
| DOORS syndrome | 3 tests |
| DPM3-congenital disorder of glycosylation | 1 test |
| DYRK1A-related intellectual disability syndrome | 1 test |
| Danon disease | 5 tests |
| De Lange syndrome | 2 tests |
| Deafness dystonia syndrome | 1 test |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 test |
| Deafness, X-linked 5 | 1 test |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
| Deafness-infertility syndrome | 1 test |
| Deafness-lymphedema-leukemia syndrome | 1 test |
| Decreased CSF 5-methyltetrahydrofolate concentration | 1 test |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 test |
| Deficiency of alpha-mannosidase | 3 tests |
| Deficiency of butyryl-CoA dehydrogenase | 1 test |
| Deficiency of hyaluronoglucosaminidase | 1 test |
| Dejerine-Sottas disease | 1 test |
| Delpire-McNeill syndrome | 1 test |
| Desbuquois dysplasia 1 | 2 tests |
| Desmin-related myofibrillar myopathy | 1 test |
| Developmental and epileptic encephalopathy 91 | 1 test |
| Developmental and epileptic encephalopathy 92 | 2 tests |
| Developmental and epileptic encephalopathy 94 | 4 tests |
| Developmental and epileptic encephalopathy, 1 | 2 tests |
| Developmental and epileptic encephalopathy, 11 | 1 test |
| Developmental and epileptic encephalopathy, 12 | 1 test |
| Developmental and epileptic encephalopathy, 13 | 1 test |
| Developmental and epileptic encephalopathy, 14 | 2 tests |
| Developmental and epileptic encephalopathy, 15 | 2 tests |
| Developmental and epileptic encephalopathy, 16 | 2 tests |
| Developmental and epileptic encephalopathy, 17 | 2 tests |
| Developmental and epileptic encephalopathy, 18 | 2 tests |
| Developmental and epileptic encephalopathy, 19 | 2 tests |
| Developmental and epileptic encephalopathy, 2 | 1 test |
| Developmental and epileptic encephalopathy, 21 | 1 test |
| Developmental and epileptic encephalopathy, 23 | 2 tests |
| Developmental and epileptic encephalopathy, 24 | 2 tests |
| Developmental and epileptic encephalopathy, 25 | 1 test |
| Developmental and epileptic encephalopathy, 26 | 2 tests |
| Developmental and epileptic encephalopathy, 27 | 1 test |
| Developmental and epileptic encephalopathy, 28 | 2 tests |
| Developmental and epileptic encephalopathy, 29 | 1 test |
| Developmental and epileptic encephalopathy, 30 | 2 tests |
| Developmental and epileptic encephalopathy, 31A | 2 tests |
| Developmental and epileptic encephalopathy, 32 | 2 tests |
| Developmental and epileptic encephalopathy, 33 | 2 tests |
| Developmental and epileptic encephalopathy, 34 | 1 test |
| Developmental and epileptic encephalopathy, 35 | 1 test |
| Developmental and epileptic encephalopathy, 36 | 2 tests |
| Developmental and epileptic encephalopathy, 37 | 1 test |
| Developmental and epileptic encephalopathy, 38 | 1 test |
| Developmental and epileptic encephalopathy, 39 | 1 test |
| Developmental and epileptic encephalopathy, 4 | 2 tests |
| Developmental and epileptic encephalopathy, 40 | 1 test |
| Developmental and epileptic encephalopathy, 41 | 1 test |
| Developmental and epileptic encephalopathy, 42 | 1 test |
| Developmental and epileptic encephalopathy, 43 | 1 test |
| Developmental and epileptic encephalopathy, 44 | 2 tests |
| Developmental and epileptic encephalopathy, 45 | 2 tests |
| Developmental and epileptic encephalopathy, 46 | 1 test |
| Developmental and epileptic encephalopathy, 47 | 2 tests |
| Developmental and epileptic encephalopathy, 48 | 1 test |
| Developmental and epileptic encephalopathy, 49 | 1 test |
| Developmental and epileptic encephalopathy, 5 | 2 tests |
| Developmental and epileptic encephalopathy, 50 | 1 test |
| Developmental and epileptic encephalopathy, 51 | 1 test |
| Developmental and epileptic encephalopathy, 52 | 1 test |
| Developmental and epileptic encephalopathy, 53 | 2 tests |
| Developmental and epileptic encephalopathy, 54 | 1 test |
| Developmental and epileptic encephalopathy, 55 | 1 test |
| Developmental and epileptic encephalopathy, 56 | 1 test |
| Developmental and epileptic encephalopathy, 57 | 2 tests |
| Developmental and epileptic encephalopathy, 58 | 1 test |
| Developmental and epileptic encephalopathy, 59 | 2 tests |
| Developmental and epileptic encephalopathy, 6 | 2 tests |
| Developmental and epileptic encephalopathy, 60 | 1 test |
| Developmental and epileptic encephalopathy, 61 | 1 test |
| Developmental and epileptic encephalopathy, 62 | 2 tests |
| Developmental and epileptic encephalopathy, 63 | 1 test |
| Developmental and epileptic encephalopathy, 64 | 2 tests |
| Developmental and epileptic encephalopathy, 65 | 1 test |
| Developmental and epileptic encephalopathy, 66 | 2 tests |
| Developmental and epileptic encephalopathy, 67 | 2 tests |
| Developmental and epileptic encephalopathy, 68 | 1 test |
| Developmental and epileptic encephalopathy, 69 | 1 test |
| Developmental and epileptic encephalopathy, 7 | 2 tests |
| Developmental and epileptic encephalopathy, 70 | 1 test |
| Developmental and epileptic encephalopathy, 71 | 1 test |
| Developmental and epileptic encephalopathy, 74 | 1 test |
| Developmental and epileptic encephalopathy, 8 | 2 tests |
| Developmental and epileptic encephalopathy, 81 | 1 test |
| Developmental and epileptic encephalopathy, 9 | 1 test |
| Diamond-Blackfan anemia 1 | 1 test |
| Diamond-Blackfan anemia 10 | 1 test |
| Diamond-Blackfan anemia 3 | 1 test |
| Diamond-Blackfan anemia 4 | 1 test |
| Diamond-Blackfan anemia 5 | 1 test |
| Diamond-Blackfan anemia 6 | 1 test |
| Diamond-Blackfan anemia 7 | 1 test |
| Diamond-Blackfan anemia 9 | 1 test |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 test |
| Dilated cardiomyopathy 1A | 2 tests |
| Dilated cardiomyopathy 1AA | 3 tests |
| Dilated cardiomyopathy 1BB | 3 tests |
| Dilated cardiomyopathy 1C | 2 tests |
| Dilated cardiomyopathy 1CC | 3 tests |
| Dilated cardiomyopathy 1D | 3 tests |
| Dilated cardiomyopathy 1DD | 2 tests |
| Dilated cardiomyopathy 1E | 4 tests |
| Dilated cardiomyopathy 1EE | 2 tests |
| Dilated cardiomyopathy 1FF | 3 tests |
| Dilated cardiomyopathy 1G | 3 tests |
| Dilated cardiomyopathy 1HH | 2 tests |
| Dilated cardiomyopathy 1I | 2 tests |
| Dilated cardiomyopathy 1II | 2 tests |
| Dilated cardiomyopathy 1JJ | 2 tests |
| Dilated cardiomyopathy 1KK | 2 tests |
| Dilated cardiomyopathy 1L | 2 tests |
| Dilated cardiomyopathy 1NN | 3 tests |
| Dilated cardiomyopathy 1O | 2 tests |
| Dilated cardiomyopathy 1P | 3 tests |
| Dilated cardiomyopathy 1R | 2 tests |
| Dilated cardiomyopathy 1S | 3 tests |
| Dilated cardiomyopathy 1W | 2 tests |
| Dilated cardiomyopathy 1X | 1 test |
| Dilated cardiomyopathy 1Y | 3 tests |
| Dilated cardiomyopathy 1Z | 3 tests |
| Dilated cardiomyopathy 2A | 3 tests |
| Dilated cardiomyopathy 2B | 2 tests |
| Dilated cardiomyopathy 3B | 2 tests |
| Disorder of organic acid metabolism | 1 test |
| Distal arthrogryposis type 5D | 1 test |
| Distal myopathy with anterior tibial onset | 1 test |
| Distal myopathy with posterior leg and anterior hand involvement | 1 test |
| Distal myopathy, Tateyama type | 3 tests |
| Distichiasis-lymphedema syndrome | 2 tests |
| Down syndrome | 2 tests |
| Doyne honeycomb retinal dystrophy | 1 test |
| Dubin-Johnson syndrome | 1 test |
| Duchenne muscular dystrophy | 3 tests |
| Dyggve-Melchior-Clausen syndrome | 1 test |
| Dyskeratosis congenita, X-linked | 3 tests |
| Dyskeratosis congenita, autosomal dominant 1 | 3 tests |
| Dyskeratosis congenita, autosomal dominant 2 | 3 tests |
| Dyskeratosis congenita, autosomal dominant 3 | 3 tests |
| Dyskeratosis congenita, autosomal dominant 6 | 3 tests |
| Dyskeratosis congenita, autosomal recessive 1 | 3 tests |
| Dyskeratosis congenita, autosomal recessive 2 | 3 tests |
| Dyskeratosis congenita, autosomal recessive 3 | 3 tests |
| Dyskeratosis congenita, autosomal recessive 5 | 1 test |
| Dyskeratosis congenita, autosomal recessive 6 | 1 test |
| Dystonia 27 | 1 test |
| EAST syndrome | 2 tests |
| EEM syndrome | 1 test |
| Early myoclonic encephalopathy | 1 test |
| Early-onset myopathy with fatal cardiomyopathy | 1 test |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 test |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 1 test |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 test |
| Ehlers-Danlos syndrome, arthrochalasia type | 1 test |
| Ehlers-Danlos syndrome, classic type, 1 | 2 tests |
| Ehlers-Danlos syndrome, classic type, 2 | 2 tests |
| Ehlers-Danlos syndrome, dermatosparaxis type | 1 test |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2 tests |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 test |
| Ehlers-Danlos syndrome, musculocontractural type | 2 tests |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 2 tests |
| Ehlers-Danlos syndrome, type 4 | 3 tests |
| Eichsfeld type congenital muscular dystrophy | 1 test |
| Elevated circulating creatine kinase concentration | 3 tests |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 5 tests |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 4 tests |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 6 | 1 test |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 3 tests |
| Encephalopathy due to GLUT1 deficiency | 1 test |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 test |
| Epidermal nevus | 1 test |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 test |
| Epilepsy, childhood absence 2 | 1 test |
| Epilepsy, early-onset, vitamin B6-dependent | 1 test |
| Epilepsy, familial focal, with variable foci 1 | 1 test |
| Epilepsy, familial focal, with variable foci 2 | 1 test |
| Epilepsy, familial focal, with variable foci 3 | 1 test |
| Epilepsy, familial focal, with variable foci 4 | 2 tests |
| Epilepsy, familial temporal lobe, 1 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 1 test |
| Epilepsy, progressive myoclonic, 1B | 1 test |
| Episodic ataxia type 1 | 1 test |
| Episodic ataxia type 2 | 1 test |
| Episodic kinesigenic dyskinesia 1 | 1 test |
| FG syndrome 1 | 1 test |
| FGFR2-related craniosynostosis | 1 test |
| Fabry disease | 6 tests |
| Facioscapulohumeral muscular dystrophy 2 | 1 test |
| Familial Mediterranean fever | 1 test |
| Familial aplasia of the vermis | 1 test |
| Familial cold autoinflammatory syndrome 1 | 1 test |
| Familial cold autoinflammatory syndrome 2 | 1 test |
| Familial cold autoinflammatory syndrome 4 | 1 test |
| Familial hyperkalemic periodic paralysis | 1 test |
| Familial infantile myasthenia | 2 tests |
| Familial infantile myoclonic epilepsy | 2 tests |
| Familial multiple nevi flammei | 1 test |
| Familial pulmonary capillary hemangiomatosis | 2 tests |
| Familial spontaneous pneumothorax | 1 test |
| Familial thoracic aortic aneurysm and aortic dissection | 2 tests |
| Fanconi renotubular syndrome 3 | 1 test |
| Farber lipogranulomatosis | 2 tests |
| Fatal infantile hypertonic myofibrillar myopathy | 1 test |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 test |
| Fetal akinesia deformation sequence 1 | 2 tests |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | 2 tests |
| Floating-Harbor syndrome | 2 tests |
| Fragile X syndrome | 4 tests |
| Frank-Ter Haar syndrome | 1 test |
| Freeman-Sheldon syndrome | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 test |
| Fucosidosis | 2 tests |
| G6PD deficiency | 1 test |
| GM1 gangliosidosis | 1 test |
| GM1 gangliosidosis type 3 | 1 test |
| GM3 synthase deficiency | 1 test |
| GNE myopathy | 2 tests |
| GNPTG-mucolipidosis | 1 test |
| Galactosylceramide beta-galactosidase deficiency | 2 tests |
| Gallbladder disease 4 | 1 test |
| Gamma-aminobutyric acid transaminase deficiency | 2 tests |
| Gaucher disease | 3 tests |
| Gaucher disease due to saposin C deficiency | 1 test |
| Gaucher disease type I | 1 test |
| Geleophysic dysplasia 1 | 1 test |
| Geleophysic dysplasia 2 | 2 tests |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 10 | 2 tests |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 test |
| Generalized pustular psoriasis | 1 test |
| Genitopatellar syndrome | 3 tests |
| Giant axonal neuropathy 1 | 2 tests |
| Gilbert syndrome | 1 test |
| Glaucoma 1, open angle, A | 1 test |
| Glaucoma 1, open angle, E | 1 test |
| Glaucoma 1, open angle, F | 1 test |
| Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset | 1 test |
| Global developmental delay, progressive ataxia, and elevated glutamine | 1 test |
| Glomuvenous malformation | 1 test |
| Glutaric aciduria, type 1 | 1 test |
| Glycogen storage disease IXb | 1 test |
| Glycogen storage disease IXd | 2 tests |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 1 test |
| Glycogen storage disease due to muscle beta-enolase deficiency | 1 test |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 test |
| Glycogen storage disease type III | 2 tests |
| Glycogen storage disease type X | 1 test |
| Glycogen storage disease, type II | 7 tests |
| Glycogen storage disease, type IV | 1 test |
| Glycogen storage disease, type V | 2 tests |
| Glycogen storage disease, type VII | 1 test |
| Gordon syndrome | 1 test |
| Gorlin syndrome | 1 test |
| Greenberg dysplasia | 1 test |
| Greig cephalopolysyndactyly syndrome | 1 test |
| HNSHA due to aldolase A deficiency | 1 test |
| Haim-Munk syndrome | 1 test |
| Hearing loss, X-linked 1 | 1 test |
| Hearing loss, autosomal dominant 37 | 1 test |
| Hearing loss, autosomal dominant 71 | 1 test |
| Hearing loss, autosomal dominant 73 | 1 test |
| Hearing loss, autosomal dominant 78 | 1 test |
| Hearing loss, autosomal dominant 81 | 1 test |
| Hearing loss, autosomal dominant 82 | 1 test |
| Hearing loss, autosomal recessive 106 | 1 test |
| Hearing loss, autosomal recessive 111 | 1 test |
| Hearing loss, autosomal recessive 119 | 1 test |
| Hearing loss, autosomal recessive 57 | 1 test |
| Hearing loss, autosomal recessive 94 | 1 test |
| Hecht syndrome | 1 test |
| Heimler syndrome 1 | 1 test |
| Heimler syndrome 2 | 1 test |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 test |
| Hereditary cryohydrocytosis with reduced stomatin | 2 tests |
| Hereditary disease | 10 tests |
| Hereditary fructosuria | 1 test |
| Hereditary hearing loss and deafness | 1 test |
| Hereditary lymphedema type I | 1 test |
| Hereditary motor and sensory neuropathy with optic atrophy | 2 tests |
| Hereditary motor and sensory neuropathy, Okinawa type | 1 test |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | 1 test |
| Hereditary pancreatitis | 1 test |
| Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 2 tests |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 2 tests |
| Hereditary spastic paraplegia 10 | 1 test |
| Hereditary spastic paraplegia 11 | 1 test |
| Hereditary spastic paraplegia 12 | 1 test |
| Hereditary spastic paraplegia 13 | 1 test |
| Hereditary spastic paraplegia 15 | 1 test |
| Hereditary spastic paraplegia 17 | 2 tests |
| Hereditary spastic paraplegia 18 | 1 test |
| Hereditary spastic paraplegia 2 | 1 test |
| Hereditary spastic paraplegia 26 | 1 test |
| Hereditary spastic paraplegia 28 | 1 test |
| Hereditary spastic paraplegia 30 | 1 test |
| Hereditary spastic paraplegia 31 | 2 tests |
| Hereditary spastic paraplegia 33 | 1 test |
| Hereditary spastic paraplegia 35 | 1 test |
| Hereditary spastic paraplegia 39 | 1 test |
| Hereditary spastic paraplegia 3A | 1 test |
| Hereditary spastic paraplegia 4 | 1 test |
| Hereditary spastic paraplegia 42 | 1 test |
| Hereditary spastic paraplegia 43 | 1 test |
| Hereditary spastic paraplegia 44 | 1 test |
| Hereditary spastic paraplegia 45 | 1 test |
| Hereditary spastic paraplegia 46 | 1 test |
| Hereditary spastic paraplegia 47 | 1 test |
| Hereditary spastic paraplegia 48 | 1 test |
| Hereditary spastic paraplegia 49 | 1 test |
| Hereditary spastic paraplegia 50 | 1 test |
| Hereditary spastic paraplegia 51 | 1 test |
| Hereditary spastic paraplegia 53 | 1 test |
| Hereditary spastic paraplegia 54 | 1 test |
| Hereditary spastic paraplegia 55 | 1 test |
| Hereditary spastic paraplegia 56 | 1 test |
| Hereditary spastic paraplegia 57 | 1 test |
| Hereditary spastic paraplegia 5A | 1 test |
| Hereditary spastic paraplegia 6 | 1 test |
| Hereditary spastic paraplegia 62 | 1 test |
| Hereditary spastic paraplegia 64 | 1 test |
| Hereditary spastic paraplegia 7 | 3 tests |
| Hereditary spastic paraplegia 72 | 1 test |
| Hereditary spastic paraplegia 73 | 1 test |
| Hereditary spastic paraplegia 75 | 1 test |
| Hereditary spastic paraplegia 77 | 1 test |
| Hereditary spastic paraplegia 8 | 1 test |
| Hereditary spastic paraplegia 9A | 1 test |
| Hermansky-Pudlak syndrome 1 | 3 tests |
| Hermansky-Pudlak syndrome 10 | 2 tests |
| Hermansky-Pudlak syndrome 2 | 3 tests |
| Hermansky-Pudlak syndrome 3 | 3 tests |
| Hermansky-Pudlak syndrome 4 | 3 tests |
| Hermansky-Pudlak syndrome 5 | 3 tests |
| Hermansky-Pudlak syndrome 6 | 3 tests |
| Hermansky-Pudlak syndrome 7 | 3 tests |
| Hermansky-Pudlak syndrome 8 | 1 test |
| Hermansky-Pudlak syndrome 9 | 3 tests |
| Heterotopia, periventricular, X-linked dominant | 1 test |
| High myopia-sensorineural deafness syndrome | 1 test |
| Houge-Janssens syndrome 3 | 1 test |
| Hunter-McAlpine craniosynostosis | 2 tests |
| Hurler syndrome | 3 tests |
| Hyaline fibromatosis syndrome | 2 tests |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 test |
| Hypercholanemia, familial | 1 test |
| Hypercholesterolemia, autosomal dominant, 3 | 1 test |
| Hypercholesterolemia, autosomal dominant, type B | 1 test |
| Hypercholesterolemia, familial, 1 | 2 tests |
| Hypercholesterolemia, familial, 4 | 1 test |
| Hyperimmunoglobulin D with periodic fever | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 test |
| Hyperproinsulinemia | 1 test |
| Hypertrophic cardiomyopathy 1 | 4 tests |
| Hypertrophic cardiomyopathy 10 | 3 tests |
| Hypertrophic cardiomyopathy 11 | 3 tests |
| Hypertrophic cardiomyopathy 12 | 3 tests |
| Hypertrophic cardiomyopathy 13 | 3 tests |
| Hypertrophic cardiomyopathy 14 | 2 tests |
| Hypertrophic cardiomyopathy 15 | 2 tests |
| Hypertrophic cardiomyopathy 16 | 3 tests |
| Hypertrophic cardiomyopathy 17 | 1 test |
| Hypertrophic cardiomyopathy 18 | 3 tests |
| Hypertrophic cardiomyopathy 2 | 3 tests |
| Hypertrophic cardiomyopathy 20 | 3 tests |
| Hypertrophic cardiomyopathy 25 | 2 tests |
| Hypertrophic cardiomyopathy 3 | 3 tests |
| Hypertrophic cardiomyopathy 4 | 3 tests |
| Hypertrophic cardiomyopathy 6 | 3 tests |
| Hypertrophic cardiomyopathy 7 | 3 tests |
| Hypertrophic cardiomyopathy 8 | 3 tests |
| Hypertrophic cardiomyopathy 9 | 3 tests |
| Hypochondrogenesis | 2 tests |
| Hypochondroplasia | 1 test |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 10 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 13 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 15 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 17 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 18 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 19 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 20 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 21 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 22 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 24 without anosmia | 1 test |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 1 test |
| Hypokalemic periodic paralysis, type 1 | 1 test |
| Hypokalemic periodic paralysis, type 2 | 1 test |
| Hypomyelinating leukodystrophy 6 | 1 test |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 1 test |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 test |
| Hypoplastic left heart syndrome 2 | 1 test |
| Hypothyroidism, congenital, nongoitrous, 5 | 1 test |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 2 tests |
| Hypotrichosis-lymphedema-telangiectasia syndrome | 2 tests |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 test |
| Idiopathic generalized epilepsy | 1 test |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | 1 test |
| Inborn mitochondrial myopathy | 4 tests |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 test |
| Infantile cerebellar-retinal degeneration | 2 tests |
| Infantile epileptic dyskinetic encephalopathy | 1 test |
| Infantile nephronophthisis | 3 tests |
| Infantile neuroaxonal dystrophy | 1 test |
| Infantile onset spinocerebellar ataxia | 3 tests |
| Infantile-onset X-linked spinal muscular atrophy | 2 tests |
| Infantile-onset ascending hereditary spastic paralysis | 1 test |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 test |
| Intellectual developmental disorder with seizures and language delay | 2 tests |
| Intellectual disability, CASK-related, X-linked | 1 test |
| Intellectual disability, X-linked 1 | 1 test |
| Intellectual disability, X-linked 102 | 1 test |
| Intellectual disability, X-linked 49 | 2 tests |
| Intellectual disability, X-linked 93 | 1 test |
| Intellectual disability, X-linked 99 | 1 test |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 test |
| Intellectual disability, X-linked, with or without seizures, arx-related | 2 tests |
| Intellectual disability, autosomal dominant 1 | 1 test |
| Intellectual disability, autosomal dominant 14 | 1 test |
| Intellectual disability, autosomal dominant 15 | 1 test |
| Intellectual disability, autosomal dominant 16 | 1 test |
| Intellectual disability, autosomal dominant 20 | 1 test |
| Intellectual disability, autosomal dominant 27 | 1 test |
| Intellectual disability, autosomal dominant 38 | 2 tests |
| Intellectual disability, autosomal dominant 42 | 1 test |
| Intellectual disability, autosomal dominant 5 | 1 test |
| Intellectual disability, autosomal dominant 56 | 1 test |
| Intellectual disability, autosomal dominant 6 | 1 test |
| Intellectual disability, autosomal dominant 8 | 1 test |
| Intellectual disability, autosomal recessive 42 | 2 tests |
| Interstitial lung disease 2 | 2 tests |
| Interstitial lung disease due to ABCA3 deficiency | 4 tests |
| Iris hypoplasia with glaucoma | 1 test |
| Isolated lutropin deficiency | 1 test |
| Isolated microphthalmia 5 | 2 tests |
| Isolated neonatal sclerosing cholangitis | 1 test |
| Jackson-Weiss syndrome | 2 tests |
| Jalili syndrome | 1 test |
| Jervell and Lange-Nielsen syndrome 1 | 3 tests |
| Jervell and Lange-Nielsen syndrome 2 | 3 tests |
| Joubert syndrome 1 | 1 test |
| Joubert syndrome 10 | 1 test |
| Joubert syndrome 28 | 1 test |
| Joubert syndrome 6 | 1 test |
| Joubert syndrome 9 | 1 test |
| Joubert syndrome with renal defect | 2 tests |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 3 tests |
| KBG syndrome | 2 tests |
| Kabuki syndrome | 4 tests |
| Kabuki syndrome 1 | 2 tests |
| Kabuki syndrome 2 | 1 test |
| Kartagener syndrome | 2 tests |
| Kilquist syndrome | 1 test |
| King Denborough syndrome | 1 test |
| Kleefstra syndrome | 2 tests |
| Kleefstra syndrome 1 | 1 test |
| Koolen-de Vries syndrome | 3 tests |
| Kufor-Rakeb syndrome | 1 test |
| L1 syndrome | 1 test |
| LEOPARD syndrome 2 | 3 tests |
| Lafora disease | 1 test |
| Landau-Kleffner syndrome | 1 test |
| Late-onset retinal degeneration | 2 tests |
| Leber congenital amaurosis | 1 test |
| Leber congenital amaurosis 1 | 2 tests |
| Leber congenital amaurosis 10 | 1 test |
| Leber congenital amaurosis 11 | 1 test |
| Leber congenital amaurosis 12 | 2 tests |
| Leber congenital amaurosis 13 | 2 tests |
| Leber congenital amaurosis 14 | 2 tests |
| Leber congenital amaurosis 15 | 2 tests |
| Leber congenital amaurosis 16 | 2 tests |
| Leber congenital amaurosis 17 | 1 test |
| Leber congenital amaurosis 18 | 2 tests |
| Leber congenital amaurosis 2 | 1 test |
| Leber congenital amaurosis 3 | 2 tests |
| Leber congenital amaurosis 4 | 3 tests |
| Leber congenital amaurosis 5 | 2 tests |
| Leber congenital amaurosis 6 | 2 tests |
| Leber congenital amaurosis 7 | 1 test |
| Leber congenital amaurosis 8 | 2 tests |
| Leber congenital amaurosis 9 | 1 test |
| Leber congenital amaurosis with early-onset deafness | 1 test |
| Leber optic atrophy | 4 tests |
| Left ventricular noncompaction 1 | 2 tests |
| Left ventricular noncompaction 10 | 3 tests |
| Left ventricular noncompaction 8 | 2 tests |
| Legius syndrome | 1 test |
| Leigh syndrome | 1 test |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 2 tests |
| Lethal congenital contracture syndrome 1 | 2 tests |
| Lethal congenital contracture syndrome 11 | 1 test |
| Lethal congenital contracture syndrome 2 | 1 test |
| Lethal congenital contracture syndrome 3 | 1 test |
| Lethal congenital contracture syndrome 4 | 1 test |
| Lethal congenital contracture syndrome 6 | 1 test |
| Lethal congenital contracture syndrome 7 | 1 test |
| Lethal congenital contracture syndrome 8 | 1 test |
| Lethal congenital contracture syndrome 9 | 1 test |
| Lethal congenital glycogen storage disease of heart | 3 tests |
| Lethal multiple pterygium syndrome | 3 tests |
| Lethal tight skin contracture syndrome | 1 test |
| Leucine-induced hypoglycemia | 1 test |
| Liddle syndrome | 2 tests |
| Limb-girdle muscular dystrophy due to POMK deficiency | 1 test |
| Lipoic acid synthetase deficiency | 1 test |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 test |
| Loeys-Dietz syndrome 1 | 1 test |
| Loeys-Dietz syndrome 2 | 2 tests |
| Loeys-Dietz syndrome 4 | 2 tests |
| Long QT syndrome 1 | 2 tests |
| Long QT syndrome 10 | 2 tests |
| Long QT syndrome 11 | 2 tests |
| Long QT syndrome 12 | 2 tests |
| Long QT syndrome 13 | 2 tests |
| Long QT syndrome 14 | 2 tests |
| Long QT syndrome 15 | 2 tests |
| Long QT syndrome 2 | 3 tests |
| Long QT syndrome 3 | 4 tests |
| Long QT syndrome 5 | 2 tests |
| Long QT syndrome 6 | 2 tests |
| Long QT syndrome 9 | 2 tests |
| Low phospholipid associated cholelithiasis | 1 test |
| Lucey-Driscoll syndrome | 1 test |
| Lymphangiomyomatosis | 1 test |
| Lymphatic malformation 3 | 1 test |
| Lymphatic malformation 4 | 1 test |
| Lymphatic malformation 6 | 1 test |
| Lymphedema-posterior choanal atresia syndrome | 1 test |
| Lysinuric protein intolerance | 2 tests |
| MASA syndrome | 1 test |
| MASS syndrome | 1 test |
| MEGF10-related myopathy | 1 test |
| MELAS syndrome | 6 tests |
| MERRF syndrome | 5 tests |
| MYH7-related skeletal myopathy | 4 tests |
| Macrocephaly, macrosomia, facial dysmorphism syndrome | 1 test |
| Macular corneal dystrophy | 1 test |
| Macular degeneration, X-linked atrophic | 3 tests |
| Macular degeneration, age-related, 3 | 1 test |
| Macular dystrophy with central cone involvement | 1 test |
| Majeed syndrome | 1 test |
| Malan overgrowth syndrome | 1 test |
| Malignant hyperthermia, susceptibility to, 1 | 1 test |
| Mandibuloacral dysplasia with type B lipodystrophy | 1 test |
| Marden-Walker syndrome | 1 test |
| Marfan syndrome | 6 tests |
| Marinesco-Sjögren syndrome | 2 tests |
| Marshall syndrome | 1 test |
| Mast syndrome | 1 test |
| Maternally-inherited spastic paraplegia | 4 tests |
| Maturity-onset diabetes of the young type 1 | 1 test |
| Maturity-onset diabetes of the young type 10 | 1 test |
| Maturity-onset diabetes of the young type 11 | 1 test |
| Maturity-onset diabetes of the young type 13 | 1 test |
| Maturity-onset diabetes of the young type 14 | 1 test |
| Maturity-onset diabetes of the young type 2 | 1 test |
| Maturity-onset diabetes of the young type 3 | 1 test |
| Maturity-onset diabetes of the young type 4 | 1 test |
| Maturity-onset diabetes of the young type 6 | 1 test |
| Maturity-onset diabetes of the young type 7 | 1 test |
| Maturity-onset diabetes of the young type 8 | 1 test |
| Maturity-onset diabetes of the young type 9 | 1 test |
| Meckel syndrome, type 1 | 1 test |
| Meckel syndrome, type 2 | 1 test |
| Meckel syndrome, type 6 | 1 test |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 tests |
| Megaconial type congenital muscular dystrophy | 1 test |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 test |
| Melnick-Needles syndrome | 3 tests |
| Menkes kinky-hair syndrome | 2 tests |
| Merosin deficient congenital muscular dystrophy | 1 test |
| Metabolic myopathy due to lactate transporter defect | 1 test |
| Metachromatic leukodystrophy | 2 tests |
| Metatropic dysplasia | 1 test |
| Mevalonic aciduria | 1 test |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 test |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 test |
| Microcephaly, seizures, and developmental delay | 1 test |
| Microcephaly-capillary malformation syndrome | 1 test |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 2 tests |
| Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma | 1 test |
| Microphthalmia, isolated, with coloboma 10 | 1 test |
| Microspherophakia | 1 test |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 1 test |
| Mitochondrial DNA depletion syndrome 1 | 3 tests |
| Mitochondrial DNA depletion syndrome 11 | 2 tests |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 2 tests |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 2 tests |
| Mitochondrial DNA depletion syndrome 13 | 2 tests |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 1 test |
| Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 1 test |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 3 tests |
| Mitochondrial DNA depletion syndrome 4b | 3 tests |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 2 tests |
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) | 2 tests |
| Mitochondrial DNA depletion syndrome 8a | 3 tests |
| Mitochondrial DNA depletion syndrome 9 | 2 tests |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 3 tests |
| Mitochondrial DNA depletion syndrome, myopathic form | 3 tests |
| Mitochondrial DNA-Associated Leigh Syndrome and NARP | 4 tests |
| Mitochondrial complex I deficiency | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 1 | 4 tests |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 1 test |
| Mitochondrial disease | 4 tests |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 test |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 1 test |
| Mitochondrial non-syndromic sensorineural hearing loss | 6 tests |
| Mitochondrial trifunctional protein deficiency | 2 tests |
| Miyoshi muscular dystrophy 1 | 2 tests |
| Miyoshi muscular dystrophy 3 | 1 test |
| Motor developmental delay due to 14q32.2 paternally expressed gene defect | 3 tests |
| Mowat-Wilson syndrome | 1 test |
| Mucolipidosis type II | 3 tests |
| Mucolipidosis type IV | 1 test |
| Mucopolysaccharidosis type 6 | 2 tests |
| Mucopolysaccharidosis type 7 | 3 tests |
| Mucopolysaccharidosis, MPS-II | 3 tests |
| Mucopolysaccharidosis, MPS-III-A | 2 tests |
| Mucopolysaccharidosis, MPS-III-B | 2 tests |
| Mucopolysaccharidosis, MPS-III-C | 2 tests |
| Mucopolysaccharidosis, MPS-III-D | 2 tests |
| Mucopolysaccharidosis, MPS-IV-A | 3 tests |
| Mucopolysaccharidosis, MPS-IV-B | 1 test |
| Muenke syndrome | 1 test |
| Multiple acyl-CoA dehydrogenase deficiency | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 1 test |
| Multiple cutaneous and mucosal venous malformations | 1 test |
| Multiple epiphyseal dysplasia | 1 test |
| Multiple sulfatase deficiency | 2 tests |
| Multisystemic smooth muscle dysfunction syndrome | 1 test |
| Muscle AMP deaminase deficiency | 2 tests |
| Muscle eye brain disease | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 3 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2 tests |
| Muscular dystrophy-dystroglycanopathy type B5 | 2 tests |
| Muscular dystrophy-dystroglycanopathy type B6 | 1 test |
| Myasthenic syndrome, congenital, 1B, fast-channel | 2 tests |
| Myasthenic syndrome, slow-channel congenital | 2 tests |
| Myoclonic dystonia 11 | 1 test |
| Myoclonic-astatic epilepsy | 1 test |
| Myoclonus, familial, 2 | 1 test |
| Myofibrillar myopathy 2 | 3 tests |
| Myofibrillar myopathy 3 | 1 test |
| Myofibrillar myopathy 4 | 3 tests |
| Myofibrillar myopathy 5 | 1 test |
| Myofibrillar myopathy 6 | 3 tests |
| Myoglobinuria, acute recurrent, autosomal recessive | 1 test |
| Myoglobinuria, recurrent | 3 tests |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 test |
| Myopathy, centronuclear, 2 | 1 test |
| Myopathy, centronuclear, 5 | 1 test |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 test |
| Myopathy, myosin storage, autosomal recessive | 3 tests |
| Myopathy, proximal, and ophthalmoplegia | 2 tests |
| Myopathy, reducing body, X-linked, childhood-onset | 2 tests |
| Myopathy, reducing body, X-linked, early-onset, severe | 2 tests |
| Myosclerosis | 1 test |
| Myosin storage myopathy | 4 tests |
| Myotonia levior | 1 test |
| NARP syndrome | 2 tests |
| NEK9-related lethal skeletal dysplasia | 1 test |
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | 3 tests |
| Nail-patella syndrome | 1 test |
| Naxos disease | 2 tests |
| Nemaline myopathy 10 | 1 test |
| Nemaline myopathy 2 | 2 tests |
| Nemaline myopathy 5 | 1 test |
| Nemaline myopathy 6 | 1 test |
| Nemaline myopathy 7 | 1 test |
| Nemaline myopathy 8 | 1 test |
| Nemaline myopathy 9 | 2 tests |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 test |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 1 test |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 1 test |
| Neonatal-onset encephalopathy with rigidity and seizures | 2 tests |
| Nephronophthisis 1 | 1 test |
| Nephronophthisis 19 | 1 test |
| Nephronophthisis 3 | 1 test |
| Nephronophthisis 4 | 1 test |
| Nephropathic cystinosis | 1 test |
| Neurodegeneration with brain iron accumulation 5 | 3 tests |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 2 tests |
| Neurodevelopmental disorder with hearing loss and spasticity | 1 test |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 test |
| Neurodevelopmental disorder with involuntary movements | 2 tests |
| Neurodevelopmental disorder with poor language and loss of hand skills | 2 tests |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 test |
| Neurofibromatosis | 1 test |
| Neurofibromatosis, type 1 | 2 tests |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 1 test |
| Neuromuscular disease, congenital, with uniform type 1 fiber | 1 test |
| Neuronal ceroid lipofuscinosis | 3 tests |
| Neuronal ceroid lipofuscinosis 1 | 1 test |
| Neuronal ceroid lipofuscinosis 10 | 2 tests |
| Neuronal ceroid lipofuscinosis 2 | 3 tests |
| Neuronal ceroid lipofuscinosis 3 | 3 tests |
| Neuronal ceroid lipofuscinosis 5 | 2 tests |
| Neuronal ceroid lipofuscinosis 7 | 2 tests |
| Neuronal ceroid lipofuscinosis 8 | 2 tests |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 test |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 2 tests |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 1 test |
| Neuronopathy, distal hereditary motor, type 2A | 2 tests |
| Neuronopathy, distal hereditary motor, type 2B | 2 tests |
| Neuronopathy, distal hereditary motor, type 5A | 2 tests |
| Neuronopathy, distal hereditary motor, type 5B | 1 test |
| Neuronopathy, distal hereditary motor, type 7A | 2 tests |
| Neuronopathy, distal hereditary motor, type 7B | 1 test |
| Neutral lipid storage myopathy | 1 test |
| Nicolaides-Baraitser syndrome | 3 tests |
| Niemann-Pick disease, type A | 3 tests |
| Niemann-Pick disease, type B | 2 tests |
| Niemann-Pick disease, type C1 | 2 tests |
| Niemann-Pick disease, type C2 | 2 tests |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 1 test |
| Non-syndromic X-linked intellectual disability | 2 tests |
| Noonan syndrome | 1 test |
| Noonan syndrome 1 | 4 tests |
| Noonan syndrome 10 | 1 test |
| Noonan syndrome 3 | 2 tests |
| Noonan syndrome 4 | 2 tests |
| Noonan syndrome 5 | 4 tests |
| Noonan syndrome 6 | 2 tests |
| Noonan syndrome 7 | 3 tests |
| Noonan syndrome 8 | 2 tests |
| Noonan syndrome 9 | 1 test |
| Noonan syndrome with multiple lentigines | 1 test |
| Noonan syndrome-like disorder with loose anagen hair 1 | 2 tests |
| Norman-Roberts syndrome | 1 test |
| Obesity due to congenital leptin deficiency | 1 test |
| Obesity due to leptin receptor gene deficiency | 1 test |
| Obesity due to prohormone convertase I deficiency | 1 test |
| Occult macular dystrophy | 2 tests |
| Ocular albinism, type I | 1 test |
| Oculocutaneous albinism type 3 | 1 test |
| Oculocutaneous albinism type 4 | 1 test |
| Oculocutaneous albinism type 7 | 3 tests |
| Oculopharyngeal muscular dystrophy | 1 test |
| Oguchi disease-1 | 1 test |
| Oguchi disease-2 | 1 test |
| Optic atrophy 3 | 2 tests |
| Optic atrophy 9 | 1 test |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 test |
| Optic nerve hypoplasia | 1 test |
| Ornithine carbamoyltransferase deficiency | 1 test |
| Orofaciodigital syndrome I | 2 tests |
| Osteogenesis imperfecta | 2 tests |
| Oto-palato-digital syndrome, type II | 3 tests |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2 tests |
| PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia | 1 test |
| PGM1-congenital disorder of glycosylation | 1 test |
| PHARC syndrome | 2 tests |
| PHGDH deficiency | 1 test |
| PMM2-congenital disorder of glycosylation | 2 tests |
| POLG-related disorder | 1 test |
| PTEN hamartoma tumor syndrome | 2 tests |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 3 tests |
| Paramyotonia congenita of Von Eulenburg | 2 tests |
| Partington syndrome | 2 tests |
| Paternal uniparental disomy of chromosome 14 | 3 tests |
| Patterned macular dystrophy 1 | 3 tests |
| Patterned macular dystrophy 2 | 1 test |
| Pearson syndrome | 1 test |
| Pelizaeus-Merzbacher disease | 2 tests |
| Pendred syndrome | 1 test |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 test |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 test |
| Peroxisome biogenesis disorder | 4 tests |
| Peroxisome biogenesis disorder 10A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 10B | 1 test |
| Peroxisome biogenesis disorder 11A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 11B | 1 test |
| Peroxisome biogenesis disorder 12A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 13A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 14B | 1 test |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 1B | 1 test |
| Peroxisome biogenesis disorder 2A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 2B | 1 test |
| Peroxisome biogenesis disorder 3A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 4A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 4B | 2 tests |
| Peroxisome biogenesis disorder 5A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 5B | 2 tests |
| Peroxisome biogenesis disorder 6A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 6B | 1 test |
| Peroxisome biogenesis disorder 7A (Zellweger) | 3 tests |
| Peroxisome biogenesis disorder 7B | 1 test |
| Peroxisome biogenesis disorder 8A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 8B | 1 test |
| Peroxisome biogenesis disorder 9B | 1 test |
| Peroxisome biogenesis disorder type 3B | 1 test |
| Perrault syndrome 1 | 1 test |
| Perrault syndrome 2 | 1 test |
| Perrault syndrome 3 | 1 test |
| Perrault syndrome 4 | 1 test |
| Perrault syndrome 5 | 2 tests |
| Perry syndrome | 1 test |
| Persistent fetal circulation syndrome | 2 tests |
| Pfeiffer syndrome | 2 tests |
| Phenylketonuria | 1 test |
| Phytanic acid storage disease | 1 test |
| Pigmentary retinal dystrophy | 3 tests |
| Pigmented paravenous retinochoroidal atrophy | 1 test |
| Pili torti-deafness syndrome | 1 test |
| Pitt-Hopkins syndrome | 2 tests |
| Pitt-Hopkins-like syndrome 2 | 1 test |
| Pituitary hormone deficiency, combined, 2 | 1 test |
| Poikiloderma with neutropenia | 3 tests |
| Polycystic kidney disease 2 | 1 test |
| Polyendocrine-polyneuropathy syndrome | 1 test |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 1 test |
| Pontocerebellar hypoplasia type 1A | 1 test |
| Pontocerebellar hypoplasia type 1B | 1 test |
| Pontocerebellar hypoplasia type 2A | 1 test |
| Pontocerebellar hypoplasia type 8 | 1 test |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 test |
| Prader-Willi syndrome | 4 tests |
| Primary ciliary dyskinesia 10 | 2 tests |
| Primary ciliary dyskinesia 11 | 2 tests |
| Primary ciliary dyskinesia 12 | 2 tests |
| Primary ciliary dyskinesia 13 | 2 tests |
| Primary ciliary dyskinesia 14 | 2 tests |
| Primary ciliary dyskinesia 15 | 2 tests |
| Primary ciliary dyskinesia 16 | 2 tests |
| Primary ciliary dyskinesia 17 | 2 tests |
| Primary ciliary dyskinesia 18 | 2 tests |
| Primary ciliary dyskinesia 19 | 2 tests |
| Primary ciliary dyskinesia 2 | 2 tests |
| Primary ciliary dyskinesia 20 | 2 tests |
| Primary ciliary dyskinesia 21 | 2 tests |
| Primary ciliary dyskinesia 22 | 2 tests |
| Primary ciliary dyskinesia 23 | 2 tests |
| Primary ciliary dyskinesia 24 | 2 tests |
| Primary ciliary dyskinesia 25 | 2 tests |
| Primary ciliary dyskinesia 26 | 2 tests |
| Primary ciliary dyskinesia 27 | 2 tests |
| Primary ciliary dyskinesia 28 | 2 tests |
| Primary ciliary dyskinesia 29 | 2 tests |
| Primary ciliary dyskinesia 3 | 2 tests |
| Primary ciliary dyskinesia 30 | 2 tests |
| Primary ciliary dyskinesia 32 | 2 tests |
| Primary ciliary dyskinesia 33 | 2 tests |
| Primary ciliary dyskinesia 34 | 2 tests |
| Primary ciliary dyskinesia 35 | 2 tests |
| Primary ciliary dyskinesia 6 | 2 tests |
| Primary ciliary dyskinesia 7 | 2 tests |
| Primary ciliary dyskinesia 9 | 2 tests |
| Primary dilated cardiomyopathy | 1 test |
| Primary familial hypertrophic cardiomyopathy | 4 tests |
| Primary open angle glaucoma | 1 test |
| Progressive external ophthalmoplegia | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 3 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 1 test |
| Progressive familial heart block type IB | 2 tests |
| Progressive familial heart block, type 1A | 4 tests |
| Progressive familial intrahepatic cholestasis type 1 | 1 test |
| Progressive familial intrahepatic cholestasis type 2 | 1 test |
| Progressive familial intrahepatic cholestasis type 3 | 1 test |
| Progressive myoclonic epilepsy type 3 | 1 test |
| Progressive myoclonic epilepsy type 5 | 1 test |
| Progressive myoclonic epilepsy type 6 | 1 test |
| Progressive myoclonic epilepsy type 7 | 1 test |
| Progressive myositis ossificans | 2 tests |
| Progressive retinal dystrophy due to retinol transport defect | 1 test |
| Progressive sclerosing poliodystrophy | 2 tests |
| Prolidase deficiency | 1 test |
| Proteasome-associated autoinflammatory syndrome 1 | 2 tests |
| Proteus syndrome | 1 test |
| Proteus-like syndrome | 1 test |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 2 tests |
| Pseudohypoparathyroidism | 1 test |
| Pseudohypoparathyroidism type 1B | 1 test |
| Pseudohypoparathyroidism type 1C | 1 test |
| Pseudohypoparathyroidism type I A | 1 test |
| Pulmonary disease, chronic obstructive, susceptibility to | 2 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 3 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 1 test |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 3 tests |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 3 tests |
| Pulmonary hypertension, primary, 2 | 2 tests |
| Pulmonary hypertension, primary, 3 | 2 tests |
| Pulmonary hypertension, primary, 4 | 2 tests |
| Pulmonary hypertension, primary, autosomal recessive | 2 tests |
| Pulmonary venoocclusive disease 1 | 2 tests |
| Pyknodysostosis | 1 test |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 test |
| Pyridoxal phosphate-responsive seizures | 2 tests |
| Pyridoxine-dependent epilepsy | 2 tests |
| Pyruvate kinase deficiency of red cells | 1 test |
| Rahman syndrome | 2 tests |
| Rajab interstitial lung disease with brain calcifications 1 | 3 tests |
| Renal carnitine transport defect | 2 tests |
| Renal cysts and diabetes syndrome | 1 test |
| Renal tubular acidosis with progressive nerve deafness | 1 test |
| Renpenning syndrome | 1 test |
| Retinal cone dystrophy 3A | 1 test |
| Retinal cone dystrophy 4 | 1 test |
| Retinal dystrophy with or without macular staphyloma | 1 test |
| Retinal macular dystrophy type 2 | 1 test |
| Retinitis Pigmentosa, Dominant | 1 test |
| Retinitis Pigmentosa, Recessive | 1 test |
| Retinitis pigmentosa | 1 test |
| Retinitis pigmentosa 1 | 1 test |
| Retinitis pigmentosa 10 | 1 test |
| Retinitis pigmentosa 11 | 1 test |
| Retinitis pigmentosa 12 | 2 tests |
| Retinitis pigmentosa 13 | 1 test |
| Retinitis pigmentosa 14 | 2 tests |
| Retinitis pigmentosa 17 | 1 test |
| Retinitis pigmentosa 18 | 1 test |
| Retinitis pigmentosa 19 | 1 test |
| Retinitis pigmentosa 2 | 1 test |
| Retinitis pigmentosa 20 | 1 test |
| Retinitis pigmentosa 23 | 1 test |
| Retinitis pigmentosa 25 | 2 tests |
| Retinitis pigmentosa 26 | 2 tests |
| Retinitis pigmentosa 27 | 1 test |
| Retinitis pigmentosa 28 | 1 test |
| Retinitis pigmentosa 3 | 2 tests |
| Retinitis pigmentosa 30 | 2 tests |
| Retinitis pigmentosa 31 | 1 test |
| Retinitis pigmentosa 33 | 1 test |
| Retinitis pigmentosa 35 | 1 test |
| Retinitis pigmentosa 36 | 1 test |
| Retinitis pigmentosa 37 | 1 test |
| Retinitis pigmentosa 38 | 1 test |
| Retinitis pigmentosa 39 | 1 test |
| Retinitis pigmentosa 4 | 1 test |
| Retinitis pigmentosa 40 | 1 test |
| Retinitis pigmentosa 41 | 1 test |
| Retinitis pigmentosa 42 | 1 test |
| Retinitis pigmentosa 43 | 1 test |
| Retinitis pigmentosa 44 | 1 test |
| Retinitis pigmentosa 45 | 1 test |
| Retinitis pigmentosa 46 | 1 test |
| Retinitis pigmentosa 47 | 1 test |
| Retinitis pigmentosa 48 | 2 tests |
| Retinitis pigmentosa 49 | 1 test |
| Retinitis pigmentosa 50 | 1 test |
| Retinitis pigmentosa 51 | 1 test |
| Retinitis pigmentosa 54 | 1 test |
| Retinitis pigmentosa 55 | 1 test |
| Retinitis pigmentosa 56 | 1 test |
| Retinitis pigmentosa 57 | 1 test |
| Retinitis pigmentosa 58 | 1 test |
| Retinitis pigmentosa 59 | 1 test |
| Retinitis pigmentosa 60 | 1 test |
| Retinitis pigmentosa 61 | 1 test |
| Retinitis pigmentosa 62 | 1 test |
| Retinitis pigmentosa 64 | 1 test |
| Retinitis pigmentosa 67 | 1 test |
| Retinitis pigmentosa 68 | 1 test |
| Retinitis pigmentosa 69 | 1 test |
| Retinitis pigmentosa 7 | 2 tests |
| Retinitis pigmentosa 7, digenic | 1 test |
| Retinitis pigmentosa 70 | 1 test |
| Retinitis pigmentosa 72 | 1 test |
| Retinitis pigmentosa 74 | 1 test |
| Retinitis pigmentosa 75 | 1 test |
| Retinitis pigmentosa 76 | 1 test |
| Retinitis pigmentosa 79 | 1 test |
| Retinitis pigmentosa 84 | 1 test |
| Retinitis pigmentosa 9 | 1 test |
| Retinitis pigmentosa with or without situs inversus | 1 test |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 3 tests |
| Retinitis punctata albescens | 1 test |
| Rett syndrome | 5 tests |
| Rett syndrome, congenital variant | 1 test |
| Rienhoff syndrome | 1 test |
| Rippling muscle disease | 3 tests |
| Rippling muscle disease 2 | 3 tests |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 test |
| Rubinstein-Taybi syndrome | 2 tests |
| Russell-Silver syndrome | 2 tests |
| SCN2A-related generalized epilepsy with febrile seizures plus | 1 test |
| SLC35A2-congenital disorder of glycosylation | 2 tests |
| STAT3-related early-onset multisystem autoimmune disease | 1 test |
| STING-associated vasculopathy with onset in infancy | 3 tests |
| SUDDEN INFANT DEATH SYNDROME | 2 tests |
| SYNGAP1-related developmental and epileptic encephalopathy | 1 test |
| Saethre-Chotzen syndrome | 2 tests |
| Saldino-Mainzer syndrome | 2 tests |
| Salla disease | 1 test |
| Sandhoff disease | 2 tests |
| Sarcotubular myopathy | 1 test |
| Schuurs-Hoeijmakers syndrome | 1 test |
| Schwannomatosis 1 | 1 test |
| Seizures, benign familial infantile, 3 | 1 test |
| Seizures, benign familial infantile, 5 | 1 test |
| Seizures, benign familial neonatal, 1 | 1 test |
| Seizures, benign familial neonatal, 2 | 1 test |
| Sengers syndrome | 2 tests |
| Senior-Loken syndrome 1 | 1 test |
| Senior-Loken syndrome 4 | 1 test |
| Senior-Loken syndrome 5 | 1 test |
| Senior-Loken syndrome 8 | 1 test |
| Senior-loken syndrome 3 | 1 test |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 3 tests |
| Septo-optic dysplasia sequence | 1 test |
| Severe X-linked mitochondrial encephalomyopathy | 2 tests |
| Severe X-linked myotubular myopathy | 1 test |
| Severe early-childhood-onset retinal dystrophy | 1 test |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 3 tests |
| Severe neurodegenerative syndrome with lipodystrophy | 1 test |
| Sheldon-Hall syndrome | 2 tests |
| Short QT syndrome type 1 | 3 tests |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 test |
| Short-rib thoracic dysplasia 14 with polydactyly | 1 test |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 1 test |
| Shprintzen-Goldberg syndrome | 3 tests |
| Sialic acid storage disease, severe infantile type | 1 test |
| Sialidosis type 1 | 1 test |
| Sialidosis type 2 | 2 tests |
| Sick sinus syndrome 1 | 4 tests |
| Sick sinus syndrome 2, autosomal dominant | 2 tests |
| Silver-Russell syndrome 1 | 2 tests |
| Simpson-Golabi-Behmel syndrome type 1 | 2 tests |
| Simpson-Golabi-Behmel syndrome type 2 | 2 tests |
| Sinoatrial node dysfunction and deafness | 1 test |
| Sitosterolemia 1 | 1 test |
| Sitosterolemia 2 | 1 test |
| Skeletal dysplasia | 1 test |
| Skin/hair/eye pigmentation, variation in, 4 | 1 test |
| Smith-Lemli-Opitz syndrome | 3 tests |
| Smith-Magenis syndrome | 1 test |
| Sorsby fundus dystrophy | 1 test |
| Sotos syndrome | 5 tests |
| Spastic ataxia 1 | 1 test |
| Spastic ataxia 2 | 1 test |
| Spastic ataxia 4 | 1 test |
| Spastic paraplegia 52, autosomal recessive | 1 test |
| Spastic paraplegia 72, autosomal dominant | 1 test |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 test |
| Spastic paraplegia, optic atropy, and neuropathy | 1 test |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 1 test |
| Spermatogenic failure 18 | 1 test |
| Spermatogenic failure 46 | 1 test |
| Sphingomyelin/cholesterol lipidosis | 2 tests |
| Spinal muscular atrophy | 2 tests |
| Spinocerebellar ataxia 7 | 2 tests |
| Spinocerebellar ataxia type 1 | 2 tests |
| Spinocerebellar ataxia type 2 | 2 tests |
| Spinocerebellar ataxia type 25 | 1 test |
| Spinocerebellar ataxia type 6 | 2 tests |
| Spinocerebellar ataxia, autosomal recessive 24 | 1 test |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 test |
| Split hand-foot malformation 4 | 1 test |
| Spondyloepiphyseal dysplasia congenita | 1 test |
| Stargardt disease 3 | 1 test |
| Steinert myotonic dystrophy syndrome | 1 test |
| Sterol carrier protein 2 deficiency | 1 test |
| Stickler syndrome type 2 | 2 tests |
| Stickler syndrome, type 4 | 1 test |
| Stickler syndrome, type 5 | 1 test |
| Stickler syndrome, type 6 | 1 test |
| Stromme syndrome | 2 tests |
| Sturge-Weber syndrome | 1 test |
| Succinate-semialdehyde dehydrogenase deficiency | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 test |
| Supravalvar aortic stenosis | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 1 | 3 tests |
| Surfactant metabolism dysfunction, pulmonary, 2 | 3 tests |
| Surfactant metabolism dysfunction, pulmonary, 4 | 3 tests |
| Surfactant metabolism dysfunction, pulmonary, 5 | 2 tests |
| Susceptibility to mononeuropathy of the median nerve, mild | 1 test |
| Syndromic X-linked intellectual disability 14 | 1 test |
| Syndromic X-linked intellectual disability Claes-Jensen type | 3 tests |
| Syndromic X-linked intellectual disability Hedera type | 1 test |
| Syndromic X-linked intellectual disability Nascimento type | 2 tests |
| Syndromic X-linked intellectual disability Snyder type | 1 test |
| Syndromic microphthalmia type 5 | 2 tests |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 test |
| TWIST1-related craniosynostosis | 2 tests |
| Tatton-Brown-Rahman overgrowth syndrome | 1 test |
| Tay-Sachs disease | 2 tests |
| Tay-Sachs disease, variant AB | 1 test |
| Telangiectasia, hereditary hemorrhagic, type 1 | 3 tests |
| Telangiectasia, hereditary hemorrhagic, type 2 | 3 tests |
| Telangiectasia, hereditary hemorrhagic, type 5 | 3 tests |
| Temple-Baraitser syndrome | 1 test |
| Tetralogy of Fallot | 1 test |
| Thanatophoric dysplasia type 1 | 3 tests |
| Thanatophoric dysplasia, type 2 | 1 test |
| Thrombophilia | 1 test |
| Thrombophilia due to activated protein C resistance | 1 test |
| Tibial muscular dystrophy | 1 test |
| Timothy syndrome | 3 tests |
| Trichohepatoenteric syndrome 1 | 1 test |
| Troyer syndrome | 1 test |
| Tuberous sclerosis 1 | 3 tests |
| Tuberous sclerosis 2 | 3 tests |
| Type 1 diabetes mellitus 2 | 1 test |
| Type 2 diabetes mellitus | 1 test |
| Tyrosinase-negative oculocutaneous albinism | 1 test |
| Tyrosinase-positive oculocutaneous albinism | 1 test |
| Tyrosinemia type I | 1 test |
| Ullrich congenital muscular dystrophy 1A | 1 test |
| Ullrich congenital muscular dystrophy 2 | 1 test |
| Uniparental disomy of 7 | 1 test |
| Unverricht-Lundborg syndrome | 1 test |
| Usher syndrome type 1 | 1 test |
| Usher syndrome type 1C | 1 test |
| Usher syndrome type 1D | 1 test |
| Usher syndrome type 1G | 1 test |
| Usher syndrome type 1J | 1 test |
| Usher syndrome type 2A | 1 test |
| Usher syndrome type 2C | 1 test |
| Usher syndrome type 2D | 1 test |
| Usher syndrome type 3 | 1 test |
| Usher syndrome type 3B | 1 test |
| Usher syndrome, type 4 | 1 test |
| Van den Ende-Gupta syndrome | 1 test |
| Ventricular septal defect 3 | 1 test |
| Very long chain acyl-CoA dehydrogenase deficiency | 2 tests |
| Vitelliform macular dystrophy | 2 tests |
| Vitelliform macular dystrophy 4 | 1 test |
| Vitelliform macular dystrophy 5 | 1 test |
| Waardenburg syndrome type 1 | 1 test |
| Waardenburg syndrome type 2A | 1 test |
| Waardenburg syndrome type 2D | 1 test |
| Waardenburg syndrome type 2E | 1 test |
| Waardenburg syndrome type 3 | 1 test |
| Waardenburg syndrome type 4A | 1 test |
| Waardenburg syndrome type 4B | 1 test |
| Waardenburg syndrome type 4C | 2 tests |
| Waardenburg syndrome, IIa 2F | 1 test |
| Warburg micro syndrome 2 | 1 test |
| Weaver syndrome | 3 tests |
| Welander distal myopathy | 1 test |
| West syndrome | 1 test |
| Wieacker-Wolff syndrome | 1 test |
| Wiedemann-Steiner syndrome | 3 tests |
| Williams syndrome | 2 tests |
| Wilson-Turner syndrome | 1 test |
| Wolff-Parkinson-White pattern | 3 tests |
| Wolfram syndrome 2 | 2 tests |
| Wolfram-like syndrome | 2 tests |
| Wolman disease | 3 tests |
| X inactivation, familial skewed, 1 | 1 test |
| X inactivation, familial skewed, 2 | 1 test |
| X-linked Alport syndrome | 1 test |
| X-linked Emery-Dreifuss muscular dystrophy | 3 tests |
| X-linked Opitz G/BBB syndrome | 1 test |
| X-linked cone-rod dystrophy 1 | 2 tests |
| X-linked cone-rod dystrophy 3 | 1 test |
| X-linked distal spinal muscular atrophy type 3 | 1 test |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 1 test |
| X-linked intellectual disability Cabezas type | 2 tests |
| X-linked intellectual disability, Cantagrel type | 1 test |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 test |
| X-linked lissencephaly with abnormal genitalia | 1 test |
| X-linked mixed hearing loss with perilymphatic gusher | 1 test |
| X-linked myopathy with postural muscle atrophy | 2 tests |
| X-linked scapuloperoneal muscular dystrophy | 2 tests |
| Yao syndrome | 1 test |
| Yunis-Varon syndrome | 1 test |
| Zellweger spectrum disorders | 2 tests |
| Zimmermann-Laband syndrome 1 | 1 test |
| Zimmermann-Laband syndrome 2 | 1 test |