Athena Diagnostics
General information
Athena Diagnostics
200 Forest Street
2nd Floor
Marlborough
Massachusetts
United States - 01752
http://www.athenadiagnostics.com/
Organization ID: 1012
200 Forest Street
2nd Floor
Marlborough
Massachusetts
United States - 01752
http://www.athenadiagnostics.com/
Organization ID: 1012
Personnel
- Variant Science Group, Contact
Phone: (800) 394-4493
Email: DGXQuestClinVarRequests@questdiagnostics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 23523
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABAT | 17 | Dec 24, 2025 |
| ABCA3 | 1 | Dec 30, 2022 |
| ABCC8 | 95 | Dec 24, 2025 |
| ABCD1 | 39 | Dec 24, 2025 |
| ABHD12 | 4 | Sep 25, 2019 |
| ACAD9 | 2 | Dec 30, 2022 |
| ACTA1 | 2 | Jan 3, 2024 |
| ACTB | 5 | Oct 2, 2024 |
| ACTC1 | 1 | Dec 30, 2022 |
| ACTG1 | 13 | Dec 31, 2024 |
| ACTN4 | 22 | Dec 31, 2024 |
| ADA | 1 | Dec 30, 2022 |
| ADCY1 | 6 | Sep 25, 2019 |
| ADGRG1 | 28 | Dec 24, 2025 |
| ADGRV1 | 153 | Dec 24, 2025 |
| ADNP | 1 | Dec 30, 2022 |
| ADSL | 11 | Dec 31, 2024 |
| AFG2A | 22 | Dec 24, 2025 |
| AFG3L2 | 79 | Dec 24, 2025 |
| AGRN | 33 | Dec 24, 2025 |
| AHI1 | 1 | Sep 25, 2019 |
| AIFM1 | 2 | Sep 25, 2019 |
| AIRE | 22 | Dec 24, 2025 |
| AKT2 | 1 | Dec 30, 2022 |
| ALDH7A1 | 9 | Dec 24, 2025 |
| ALG13 | 24 | Dec 24, 2025 |
| ALG14 | 2 | Dec 30, 2022 |
| ALG14-AS1 | 1 | Dec 30, 2022 |
| ALG9 | 6 | Dec 31, 2024 |
| ALMS1 | 25 | Dec 30, 2020 |
| ALPL | 19 | Dec 24, 2025 |
| ALS2 | 68 | Dec 24, 2025 |
| AMT | 8 | Dec 24, 2025 |
| ANAPC15 | 2 | Sep 25, 2019 |
| ANG | 8 | Dec 24, 2025 |
| ANGPT2 | 1 | Dec 24, 2025 |
| ANKH | 3 | Dec 30, 2020 |
| ANKRD11 | 61 | Dec 24, 2025 |
| ANO10 | 94 | Dec 24, 2025 |
| ANO5 | 64 | Dec 24, 2025 |
| ANOS1 | 7 | Dec 31, 2024 |
| AP5Z1 | 87 | Dec 24, 2025 |
| APOB | 1 | Aug 17, 2017 |
| APP | 42 | Dec 24, 2025 |
| APTX | 39 | Dec 24, 2025 |
| AQP2 | 4 | Aug 31, 2018 |
| ARFGEF1-DT | 4 | Dec 31, 2024 |
| ARFGEF2 | 26 | Dec 24, 2025 |
| ARHGEF9 | 4 | Dec 27, 2022 |
| ARID1A | 1 | Dec 30, 2022 |
| ARMS2 | 5 | Aug 31, 2018 |
| ARSA | 9 | Dec 24, 2025 |
| ARSL | 1 | Dec 30, 2022 |
| ARX | 5 | Dec 31, 2024 |
| ASAH1 | 20 | Dec 24, 2025 |
| ASPM | 95 | Dec 24, 2025 |
| ASTN2 | 17 | Dec 24, 2025 |
| ASXL1 | 1 | Dec 30, 2022 |
| ATL1 | 25 | Dec 24, 2025 |
| ATM | 317 | Dec 24, 2025 |
| ATN1 | 1 | Dec 31, 2024 |
| ATP13A2 | 39 | Dec 24, 2025 |
| ATP1A2 | 55 | Dec 24, 2025 |
| ATP1A3 | 23 | Dec 24, 2025 |
| ATP2A1 | 43 | Dec 24, 2025 |
| ATP2A1-AS1 | 1 | Aug 31, 2018 |
| ATP2A2 | 10 | Dec 31, 2024 |
| ATP2B2 | 7 | Dec 30, 2020 |
| ATP6AP2 | 7 | Dec 24, 2025 |
| ATP6V0A2 | 14 | Dec 24, 2025 |
| ATP6V1B1 | 5 | Dec 30, 2020 |
| ATP6V1B1-AS1 | 1 | Aug 31, 2018 |
| ATP6V1B2 | 1 | Sep 25, 2019 |
| ATP7A | 2 | Dec 30, 2022 |
| ATRIP | 10 | Sep 25, 2019 |
| ATRIP-TREX1 | 10 | Sep 25, 2019 |
| ATRX | 19 | Dec 24, 2025 |
| AVPR2 | 14 | Dec 31, 2024 |
| AXDND1 | 10 | Jan 3, 2024 |
| B3GNT4 | 1 | Dec 30, 2020 |
| B4GAT1 | 1 | Aug 31, 2018 |
| BAG3 | 8 | Jan 3, 2024 |
| BBS1 | 7 | Sep 25, 2019 |
| BBS10 | 3 | Aug 17, 2017 |
| BBS2 | 3 | Jan 3, 2024 |
| BCKDK | 11 | Dec 24, 2025 |
| BCS1L | 2 | Sep 25, 2019 |
| BDP1 | 13 | Sep 13, 2021 |
| BICD2 | 5 | Jan 3, 2024 |
| BIN1 | 4 | Dec 24, 2025 |
| BRAT1 | 44 | Dec 24, 2025 |
| BSCL2 | 26 | Dec 24, 2025 |
| BSND | 4 | Sep 13, 2021 |
| C10orf105 | 4 | Dec 30, 2020 |
| C11orf65 | 118 | Dec 24, 2025 |
| C12orf43 | 7 | Dec 24, 2025 |
| C17orf107 | 13 | Dec 31, 2024 |
| CABP2 | 1 | Sep 25, 2019 |
| CACNA1A | 409 | Dec 24, 2025 |
| CACNA1D | 12 | Dec 24, 2025 |
| CACNA1H | 163 | Dec 24, 2025 |
| CACNA1S | 77 | Dec 24, 2025 |
| CACNA2D1 | 17 | Dec 24, 2025 |
| CACNA2D1-AS1 | 3 | Dec 24, 2025 |
| CACNA2D2 | 16 | Dec 24, 2025 |
| CACNB4 | 54 | Dec 24, 2025 |
| CAPN3 | 108 | Dec 24, 2025 |
| CASD1 | 31 | Dec 31, 2024 |
| CASK | 3 | Dec 30, 2020 |
| CASR | 136 | Dec 24, 2025 |
| CATIP-AS2 | 5 | Dec 31, 2024 |
| CAV3 | 25 | Dec 24, 2025 |
| CAVIN1 | 11 | Dec 24, 2025 |
| CC2D2A | 5 | Dec 31, 2024 |
| CCDC50 | 4 | Sep 25, 2019 |
| CCDC78 | 17 | Dec 24, 2025 |
| CCDC88C | 20 | Dec 24, 2025 |
| CCM2 | 17 | Dec 24, 2025 |
| CCNF | 1 | Sep 25, 2019 |
| CDAN1 | 2 | Dec 30, 2022 |
| CDC14A | 2 | Sep 25, 2019 |
| CDH23 | 38 | Dec 27, 2022 |
| CDH23-AS1 | 1 | Sep 25, 2019 |
| CDKL5 | 12 | Dec 24, 2025 |
| CEACAM16 | 4 | Dec 30, 2020 |
| CEACAM16-AS1 | 4 | Dec 30, 2020 |
| CEMIP | 16 | Dec 27, 2022 |
| CEP290 | 3 | Dec 30, 2020 |
| CFL2 | 1 | Dec 31, 2024 |
| CFTR | 1 | Dec 30, 2022 |
| CFTR-AS2 | 1 | Dec 30, 2022 |
| CHAT | 8 | Dec 24, 2025 |
| CHD2 | 33 | Dec 24, 2025 |
| CHD7 | 26 | Dec 31, 2024 |
| CHKB | 5 | Dec 31, 2024 |
| CHKB-CPT1B | 5 | Dec 31, 2024 |
| CHMP2B | 13 | Dec 24, 2025 |
| CHRNA1 | 9 | Dec 31, 2024 |
| CHRNA2 | 10 | Dec 24, 2025 |
| CHRNA4 | 33 | Dec 24, 2025 |
| CHRNA7 | 1 | Dec 24, 2025 |
| CHRNB1 | 6 | Dec 24, 2025 |
| CHRNB2 | 17 | Dec 24, 2025 |
| CHRND | 8 | Dec 24, 2025 |
| CHRNE | 19 | Dec 24, 2025 |
| CHSY1 | 13 | Dec 30, 2020 |
| CIB2 | 2 | Sep 25, 2019 |
| CISD2 | 1 | Sep 25, 2019 |
| CIZ1 | 1 | Aug 31, 2018 |
| CLCC1 | 1 | Sep 25, 2019 |
| CLCN1 | 185 | Dec 24, 2025 |
| CLCNKA | 13 | Aug 31, 2018 |
| CLCNKB | 38 | Dec 31, 2024 |
| CLDN14 | 5 | Sep 25, 2019 |
| CLDN14-AS1 | 5 | Sep 25, 2019 |
| CLIC5 | 3 | Sep 25, 2019 |
| CLN3 | 9 | Dec 24, 2025 |
| CLN5 | 12 | Dec 24, 2025 |
| CLN6 | 11 | Dec 24, 2025 |
| CLN8 | 10 | Dec 24, 2025 |
| CLPP | 4 | Sep 25, 2019 |
| CLRN1 | 2 | Dec 30, 2020 |
| CNTN1 | 6 | Dec 24, 2025 |
| CNTNAP1 | 1 | Dec 30, 2022 |
| CNTNAP2 | 38 | Dec 24, 2025 |
| COCH | 2 | Jan 3, 2024 |
| COCH-AS1 | 1 | Dec 30, 2020 |
| COG4 | 1 | Dec 30, 2022 |
| COL11A1 | 11 | Dec 30, 2022 |
| COL11A2 | 10 | Dec 24, 2025 |
| COL18A1 | 34 | Dec 31, 2024 |
| COL1A1 | 90 | Dec 24, 2025 |
| COL1A2 | 54 | Dec 24, 2025 |
| COL2A1 | 15 | Dec 30, 2020 |
| COL3A1 | 1 | Dec 31, 2024 |
| COL4A1 | 68 | Dec 24, 2025 |
| COL4A2 | 1 | Sep 13, 2021 |
| COL4A3 | 70 | Dec 31, 2024 |
| COL4A4 | 86 | Dec 31, 2024 |
| COL4A5 | 85 | Dec 31, 2024 |
| COL4A6 | 7 | Dec 30, 2020 |
| COL5A2 | 1 | Dec 30, 2022 |
| COL6A1 | 27 | Dec 24, 2025 |
| COL6A2 | 29 | Dec 24, 2025 |
| COL6A3 | 62 | Dec 24, 2025 |
| COL7A1 | 1 | Dec 30, 2022 |
| COL9A1 | 10 | Dec 30, 2020 |
| COL9A2 | 15 | Dec 31, 2024 |
| COL9A3 | 15 | Dec 31, 2024 |
| COLQ | 7 | Dec 31, 2024 |
| COQ2 | 2 | Dec 30, 2022 |
| COQ8A | 143 | Dec 24, 2025 |
| CPA6 | 10 | Dec 24, 2025 |
| CPAP | 22 | Dec 24, 2025 |
| CPLANE1 | 1 | Aug 31, 2018 |
| CPT2 | 15 | Dec 24, 2025 |
| CREBBP | 1 | Dec 30, 2022 |
| CRH | 4 | Sep 13, 2021 |
| CRPPA | 14 | Dec 24, 2025 |
| CRPPA-AS1 | 4 | Dec 30, 2020 |
| CRYAB | 4 | Dec 24, 2025 |
| CRYM | 1 | Sep 25, 2019 |
| CSTB | 11 | Dec 31, 2024 |
| CTSD | 12 | Dec 24, 2025 |
| CTSF | 16 | Dec 24, 2025 |
| CTXN2-AS1 | 8 | Sep 13, 2021 |
| CUBN | 2 | Dec 30, 2022 |
| CUL4B | 8 | Dec 31, 2024 |
| CYB561D2 | 9 | Dec 24, 2025 |
| CYP11B1 | 52 | Dec 24, 2025 |
| CYP17A1 | 3 | Aug 31, 2018 |
| CYP21A2 | 75 | Dec 24, 2025 |
| CYP27A1 | 19 | Dec 31, 2024 |
| CYP7B1 | 27 | Dec 24, 2025 |
| DAG1 | 37 | Dec 24, 2025 |
| DCDC2 | 5 | Sep 13, 2021 |
| DCTN1 | 36 | Dec 24, 2025 |
| DCX | 3 | Dec 31, 2024 |
| DEAF1 | 16 | Dec 24, 2025 |
| DEPDC5 | 37 | Dec 24, 2025 |
| DES | 36 | Dec 24, 2025 |
| DGUOK | 1 | Aug 17, 2017 |
| DGUOK-AS1 | 1 | Aug 17, 2017 |
| DHCR7 | 8 | Sep 13, 2021 |
| DIABLO | 1 | Dec 30, 2020 |
| DIAPH1 | 5 | Dec 30, 2020 |
| DIAPH3 | 7 | Dec 30, 2020 |
| DLX5 | 1 | Dec 30, 2020 |
| DM1-AS | 1 | Sep 25, 2019 |
| DMAC2L | 3 | Sep 13, 2021 |
| DMD | 329 | Dec 24, 2025 |
| DMP1-AS1 | 11 | Dec 31, 2024 |
| DNAJB6 | 15 | Dec 24, 2025 |
| DNAJC5 | 4 | Dec 24, 2025 |
| DNM1 | 9 | Dec 31, 2024 |
| DNM2 | 65 | Dec 24, 2025 |
| DNMT1 | 3 | Sep 13, 2021 |
| DOCK7 | 23 | Dec 24, 2025 |
| DOCK8 | 1 | Dec 30, 2022 |
| DOK7 | 15 | Dec 24, 2025 |
| DPAGT1 | 3 | Dec 30, 2020 |
| DPM2 | 2 | Dec 24, 2025 |
| DPYD | 24 | Dec 24, 2025 |
| DPYD-AS1 | 5 | Dec 30, 2020 |
| DSP | 1 | Dec 30, 2022 |
| DSPP | 11 | Dec 31, 2024 |
| DYNC1H1 | 71 | Dec 24, 2025 |
| DYRK1A | 10 | Dec 24, 2025 |
| DYSF | 179 | Dec 24, 2025 |
| ECHS1 | 2 | Dec 30, 2022 |
| EDN3 | 1 | Sep 25, 2019 |
| EDNRB | 5 | Sep 13, 2021 |
| EDNRB-AS1 | 4 | Sep 13, 2021 |
| EEF1A2 | 13 | Dec 24, 2025 |
| EEF2 | 136 | Dec 24, 2025 |
| EFHC1 | 25 | Dec 24, 2025 |
| EGILA | 8 | Dec 24, 2025 |
| EGR2 | 22 | Dec 24, 2025 |
| EIF2B3 | 5 | Dec 24, 2025 |
| EIF2B4 | 5 | Aug 31, 2018 |
| EIF2B5 | 4 | Jan 3, 2024 |
| ELMOD3 | 6 | Sep 13, 2021 |
| EMD | 8 | Dec 24, 2025 |
| EMX2 | 4 | Dec 31, 2024 |
| EMX2OS | 1 | Aug 17, 2017 |
| EPM2A | 17 | Dec 24, 2025 |
| EPM2A-DT | 6 | Dec 24, 2025 |
| EPS8 | 6 | Sep 25, 2019 |
| EPS8L2 | 5 | Dec 30, 2020 |
| ERCC2 | 6 | Sep 25, 2019 |
| ERCC3 | 3 | Sep 25, 2019 |
| ESPN | 3 | Dec 24, 2025 |
| ESR1 | 11 | Dec 24, 2025 |
| ESR2 | 7 | Dec 31, 2024 |
| ESRRB | 5 | Dec 30, 2020 |
| ETHE1 | 1 | Dec 30, 2022 |
| EYA1 | 3 | Sep 25, 2019 |
| EYA4 | 1 | Sep 25, 2019 |
| F13A1 | 1 | Dec 30, 2022 |
| FA2H | 21 | Dec 24, 2025 |
| FAM131B | 1 | Dec 27, 2022 |
| FAM171A2 | 1 | Dec 27, 2022 |
| FANCI | 10 | Dec 24, 2025 |
| FBN1 | 1 | Dec 24, 2025 |
| FBXL3 | 6 | Jan 3, 2024 |
| FBXL5 | 3 | Dec 31, 2024 |
| FGD1 | 9 | Dec 24, 2025 |
| FGD4 | 37 | Dec 24, 2025 |
| FGF14 | 28 | Dec 24, 2025 |
| FGF23 | 3 | Sep 25, 2019 |
| FGF3 | 2 | Sep 25, 2019 |
| FGF8 | 1 | Aug 31, 2018 |
| FGFR1 | 13 | Dec 24, 2025 |
| FGFR2 | 6 | Dec 30, 2020 |
| FGFR3 | 25 | Dec 24, 2025 |
| FHL1 | 12 | Dec 24, 2025 |
| FIG4 | 65 | Dec 24, 2025 |
| FKBP14 | 2 | Dec 30, 2022 |
| FKBP14-AS1 | 2 | Dec 30, 2022 |
| FKRP | 35 | Dec 24, 2025 |
| FKTN | 21 | Dec 24, 2025 |
| FLNA | 39 | Dec 24, 2025 |
| FLNC | 52 | Dec 24, 2025 |
| FLNC-AS1 | 19 | Dec 31, 2024 |
| FLVCR1 | 68 | Dec 24, 2025 |
| FOLR1 | 4 | Dec 24, 2025 |
| FOLR1-AS1 | 4 | Dec 24, 2025 |
| FOXC2 | 1 | Dec 30, 2022 |
| FOXG1 | 9 | Dec 30, 2020 |
| FOXI1 | 4 | Sep 25, 2019 |
| FOXP3 | 1 | Dec 30, 2022 |
| FTCD | 5 | Dec 31, 2024 |
| FUS | 31 | Dec 24, 2025 |
| FXN | 51 | Dec 24, 2025 |
| GAA | 2 | Dec 30, 2022 |
| GABRA1 | 8 | Dec 24, 2025 |
| GABRB2 | 6 | Sep 25, 2019 |
| GABRB3 | 8 | Sep 25, 2019 |
| GABRD | 13 | Dec 31, 2024 |
| GABRG2 | 16 | Dec 24, 2025 |
| GAMT | 9 | Dec 24, 2025 |
| GARS1 | 47 | Dec 24, 2025 |
| GATA3 | 2 | Dec 30, 2020 |
| GATAD1 | 3 | Dec 30, 2022 |
| GATM | 4 | Dec 31, 2024 |
| GBA1 | 2 | Dec 30, 2022 |
| GCH1 | 25 | Dec 24, 2025 |
| GCK | 272 | Dec 24, 2025 |
| GDAP1 | 23 | Dec 24, 2025 |
| GFAP | 33 | Dec 24, 2025 |
| GFPT1 | 5 | Dec 31, 2024 |
| GH-LCR | 173 | Dec 24, 2025 |
| GH1 | 5 | Dec 31, 2024 |
| GHR | 5 | Sep 13, 2021 |
| GIPC3 | 2 | Sep 25, 2019 |
| GJB1 | 96 | Dec 24, 2025 |
| GJB2 | 90 | Dec 24, 2025 |
| GJB3 | 8 | Sep 25, 2019 |
| GJC2 | 3 | Dec 24, 2025 |
| GJD2-DT | 1 | Dec 30, 2022 |
| GLA | 1 | Dec 30, 2022 |
| GLDC | 42 | Dec 24, 2025 |
| GLUD1 | 10 | Sep 25, 2019 |
| GML | 10 | Dec 31, 2024 |
| GMPPB | 2 | Dec 30, 2022 |
| GNAI3 | 1 | Dec 30, 2022 |
| GNAO1 | 10 | Dec 24, 2025 |
| GNAO1-AS1 | 1 | Aug 31, 2018 |
| GNE | 9 | Dec 24, 2025 |
| GNG3 | 1 | Dec 24, 2025 |
| GNRH1 | 1 | Aug 31, 2018 |
| GNRHR | 4 | Dec 31, 2024 |
| GOSR2 | 9 | Dec 24, 2025 |
| GPC3 | 5 | Dec 30, 2020 |
| GPSM2 | 9 | Dec 30, 2020 |
| GRHL2 | 4 | Sep 25, 2019 |
| GRIA3 | 8 | Dec 31, 2024 |
| GRIN1 | 12 | Dec 31, 2024 |
| GRIN2A | 21 | Dec 24, 2025 |
| GRIN2B | 23 | Dec 31, 2024 |
| GRM1 | 122 | Dec 24, 2025 |
| GRN | 65 | Dec 24, 2025 |
| GRXCR1 | 2 | Sep 25, 2019 |
| GRXCR2 | 3 | Sep 25, 2019 |
| GSDME | 3 | Jan 3, 2024 |
| GTF3C2-AS2 | 3 | Aug 31, 2018 |
| HADH | 1 | Dec 30, 2022 |
| HADHB | 1 | Dec 30, 2022 |
| HCN1 | 10 | Dec 24, 2025 |
| HCN4 | 38 | Dec 24, 2025 |
| HGF | 2 | Dec 30, 2020 |
| HNF1A | 161 | Dec 24, 2025 |
| HNF1B | 53 | Dec 24, 2025 |
| HNF4A | 89 | Dec 24, 2025 |
| HNRNPU | 8 | Dec 31, 2024 |
| HNRNPUL2-BSCL2 | 26 | Dec 24, 2025 |
| HOMER2 | 7 | Dec 30, 2020 |
| HOXB1 | 3 | Sep 25, 2019 |
| HPGD | 1 | Dec 30, 2022 |
| HRAS | 1 | Dec 30, 2022 |
| HSD11B2 | 9 | Dec 24, 2025 |
| HSD17B10 | 1 | Dec 24, 2025 |
| HSD17B4 | 10 | Mar 5, 2025 |
| HSD3B2 | 5 | Jan 3, 2024 |
| HSPB1 | 37 | Dec 24, 2025 |
| HSPB3 | 4 | Aug 31, 2018 |
| HSPB8 | 16 | Dec 31, 2024 |
| HSPD1 | 14 | Dec 24, 2025 |
| HSPG2 | 369 | Dec 24, 2025 |
| HTRA1 | 25 | Dec 31, 2024 |
| IFIH1 | 1 | Dec 30, 2022 |
| IGHMBP2 | 26 | Dec 31, 2024 |
| ILDR1 | 5 | Sep 25, 2019 |
| INF2 | 30 | Dec 31, 2024 |
| INS | 8 | Dec 24, 2025 |
| INS-IGF2 | 5 | Aug 31, 2018 |
| IQSEC2 | 10 | Dec 24, 2025 |
| ITGA7 | 11 | Dec 24, 2025 |
| ITGBL1 | 5 | Dec 24, 2025 |
| ITPR1 | 268 | Dec 24, 2025 |
| JAG1 | 1 | Dec 30, 2022 |
| KAAG1 | 1 | Dec 30, 2020 |
| KANSL1 | 31 | Dec 24, 2025 |
| KARS1 | 4 | Sep 25, 2019 |
| KBTBD13 | 8 | Dec 24, 2025 |
| KCNA1 | 39 | Dec 24, 2025 |
| KCNA2 | 5 | Dec 24, 2025 |
| KCNB1 | 8 | Dec 24, 2025 |
| KCNC1 | 9 | Dec 24, 2025 |
| KCNC3 | 70 | Dec 24, 2025 |
| KCND3 | 81 | Dec 24, 2025 |
| KCNE1 | 1 | Sep 25, 2019 |
| KCNH2 | 38 | Dec 24, 2025 |
| KCNH5 | 1 | Jan 13, 2025 |
| KCNJ1 | 8 | Dec 31, 2024 |
| KCNJ10 | 10 | Dec 24, 2025 |
| KCNJ11 | 31 | Dec 24, 2025 |
| KCNJ2 | 7 | Dec 24, 2025 |
| KCNMA1 | 29 | Dec 24, 2025 |
| KCNMA1-AS1 | 8 | Dec 24, 2025 |
| KCNQ1 | 6 | Jan 3, 2024 |
| KCNQ1-AS1 | 1 | Sep 25, 2019 |
| KCNQ2 | 26 | Dec 24, 2025 |
| KCNQ3 | 14 | Dec 24, 2025 |
| KCNQ4 | 5 | Sep 25, 2019 |
| KCNQ5 | 1 | Jan 13, 2025 |
| KCNT1 | 48 | Dec 24, 2025 |
| KCTD7 | 9 | Dec 24, 2025 |
| KDM5C | 4 | Dec 31, 2024 |
| KDM6A | 1 | Dec 30, 2022 |
| KIF1A | 92 | Dec 24, 2025 |
| KIF5A | 30 | Dec 24, 2025 |
| KIFBP | 14 | Dec 24, 2025 |
| KIRREL2 | 3 | Sep 13, 2021 |
| KISS1R | 5 | Sep 13, 2021 |
| KLHL40 | 12 | Dec 24, 2025 |
| KLHL9 | 5 | Dec 24, 2025 |
| KMT2D | 84 | Dec 24, 2025 |
| KRIT1 | 20 | Dec 24, 2025 |
| KRT1 | 1 | Dec 30, 2022 |
| L1CAM | 24 | Dec 24, 2025 |
| L2HGDH | 17 | Dec 24, 2025 |
| LAMA2 | 108 | Dec 24, 2025 |
| LAMB2 | 16 | Sep 13, 2021 |
| LARGE1 | 19 | Dec 24, 2025 |
| LARS1 | 2 | Dec 30, 2022 |
| LARS2 | 12 | Dec 31, 2024 |
| LARS2-AS1 | 6 | Dec 31, 2024 |
| LBR | 16 | Dec 24, 2025 |
| LDB3 | 16 | Dec 24, 2025 |
| LDLR | 12 | Aug 31, 2018 |
| LDLRAD2 | 22 | Dec 24, 2025 |
| LEPR | 17 | Dec 31, 2024 |
| LGI1 | 5 | Dec 24, 2025 |
| LHCGR | 10 | Dec 31, 2024 |
| LIAS | 8 | Dec 31, 2024 |
| LITAF | 11 | Dec 24, 2025 |
| LMNA | 70 | Dec 24, 2025 |
| LMNB2 | 21 | Dec 24, 2025 |
| LOC100130587 | 4 | Dec 24, 2025 |
| LOC101927055 | 27 | Dec 24, 2025 |
| LOC101928008 | 30 | Dec 24, 2025 |
| LOC101928965 | 2 | Dec 24, 2025 |
| LOC101929305 | 3 | Dec 30, 2020 |
| LOC102724058 | 61 | Dec 24, 2025 |
| LOC105369149 | 14 | Dec 24, 2025 |
| LOC105371566 | 12 | Sep 13, 2021 |
| LOC106501712 | 13 | Aug 31, 2018 |
| LOC106501713 | 34 | Dec 31, 2024 |
| LOC106627981 | 2 | Dec 30, 2022 |
| LOC106780800 | 73 | Dec 24, 2025 |
| LOC106799833 | 40 | Dec 24, 2025 |
| LOC107075317 | 1 | Sep 25, 2019 |
| LOC107303340 | 3 | Dec 31, 2024 |
| LOC107652445 | 22 | Dec 24, 2025 |
| LOC107982234 | 2 | Dec 31, 2024 |
| LOC108021846 | 1 | Dec 30, 2022 |
| LOC108903148 | 3 | Aug 31, 2018 |
| LOC109610631 | 1 | Sep 13, 2021 |
| LOC110121269 | 9 | Dec 24, 2025 |
| LOC110121486 | 4 | Dec 31, 2024 |
| LOC110631417 | 1 | Dec 24, 2025 |
| LOC110673972 | 2 | Aug 17, 2017 |
| LOC111811967 | 3 | Aug 17, 2017 |
| LOC112533671 | 2 | Aug 31, 2018 |
| LOC112840921 | 2 | Sep 25, 2019 |
| LOC112872299 | 3 | Dec 24, 2025 |
| LOC112939935 | 1 | Dec 31, 2024 |
| LOC113633877 | 1 | Dec 30, 2022 |
| LOC113839516 | 1 | Aug 31, 2018 |
| LOC113845788 | 2 | Aug 31, 2018 |
| LOC114803470 | 1 | Dec 31, 2024 |
| LOC122094844 | 2 | Dec 31, 2024 |
| LOC122152296 | 2 | Dec 31, 2024 |
| LOC122787137 | 1 | Sep 25, 2019 |
| LOC123864065 | 4 | Dec 24, 2025 |
| LOC123956210 | 1 | Aug 31, 2018 |
| LOC123956257 | 7 | Dec 27, 2022 |
| LOC125177489 | 5 | Dec 30, 2020 |
| LOC125467768 | 2 | Dec 31, 2024 |
| LOC126653398 | 1 | Sep 25, 2019 |
| LOC126805576 | 1 | Sep 13, 2021 |
| LOC126805655 | 10 | Dec 31, 2024 |
| LOC126805688 | 3 | Dec 27, 2022 |
| LOC126805814 | 1 | Sep 25, 2019 |
| LOC126805877 | 3 | Sep 25, 2019 |
| LOC126805890 | 5 | Dec 24, 2025 |
| LOC126806252 | 1 | Sep 25, 2019 |
| LOC126806373 | 2 | Sep 13, 2021 |
| LOC126806420 | 11 | Dec 24, 2025 |
| LOC126806421 | 10 | Dec 24, 2025 |
| LOC126806422 | 15 | Dec 24, 2025 |
| LOC126806423 | 11 | Dec 24, 2025 |
| LOC126806424 | 14 | Dec 31, 2024 |
| LOC126806425 | 16 | Dec 24, 2025 |
| LOC126806426 | 7 | Dec 31, 2024 |
| LOC126806427 | 12 | Dec 24, 2025 |
| LOC126806428 | 13 | Dec 24, 2025 |
| LOC126806429 | 9 | Dec 24, 2025 |
| LOC126806430 | 14 | Dec 24, 2025 |
| LOC126806431 | 9 | Dec 24, 2025 |
| LOC126806433 | 7 | Dec 24, 2025 |
| LOC126806573 | 1 | Dec 31, 2024 |
| LOC126806583 | 5 | Dec 31, 2024 |
| LOC126806590 | 15 | Dec 24, 2025 |
| LOC126806878 | 1 | Aug 31, 2018 |
| LOC126806913 | 7 | Dec 31, 2024 |
| LOC126807238 | 8 | Dec 24, 2025 |
| LOC126859784 | 1 | Dec 24, 2025 |
| LOC126859821 | 1 | Sep 13, 2021 |
| LOC126859836 | 9 | Dec 24, 2025 |
| LOC126859837 | 19 | Dec 24, 2025 |
| LOC126859838 | 12 | Dec 24, 2025 |
| LOC126859871 | 1 | Dec 31, 2024 |
| LOC126860130 | 2 | Dec 24, 2025 |
| LOC126860131 | 4 | Dec 30, 2020 |
| LOC126860216 | 1 | Aug 31, 2018 |
| LOC126860403 | 2 | Sep 25, 2019 |
| LOC126860461 | 1 | Sep 25, 2019 |
| LOC126860498 | 3 | Dec 31, 2024 |
| LOC126860531 | 4 | Dec 27, 2022 |
| LOC126860782 | 4 | Jan 3, 2024 |
| LOC126861109 | 2 | Dec 24, 2025 |
| LOC126861245 | 1 | Jul 17, 2017 |
| LOC126861360 | 2 | Dec 30, 2020 |
| LOC126861509 | 4 | Dec 24, 2025 |
| LOC126861520 | 3 | Dec 31, 2024 |
| LOC126861535 | 2 | Dec 27, 2022 |
| LOC126861638 | 2 | Aug 17, 2017 |
| LOC126861897 | 3 | Dec 31, 2024 |
| LOC126861898 | 1 | Sep 25, 2019 |
| LOC126862019 | 23 | Dec 24, 2025 |
| LOC126862060 | 2 | Aug 31, 2018 |
| LOC126862115 | 2 | Dec 24, 2025 |
| LOC126862194 | 2 | Dec 30, 2020 |
| LOC126862278 | 2 | Dec 31, 2024 |
| LOC126862279 | 3 | Dec 31, 2024 |
| LOC126862361 | 6 | Dec 27, 2022 |
| LOC126862402 | 1 | Sep 25, 2019 |
| LOC126862500 | 1 | Sep 13, 2021 |
| LOC126862549 | 13 | Dec 24, 2025 |
| LOC126862578 | 2 | Dec 24, 2025 |
| LOC126862586 | 7 | Dec 24, 2025 |
| LOC126862757 | 1 | Aug 31, 2018 |
| LOC126862864 | 9 | Dec 24, 2025 |
| LOC126862865 | 4 | Dec 30, 2020 |
| LOC126862866 | 3 | Dec 24, 2025 |
| LOC126862902 | 4 | Dec 31, 2024 |
| LOC126863084 | 3 | Dec 30, 2020 |
| LOC126863087 | 2 | Sep 25, 2019 |
| LOC126863145 | 2 | Sep 25, 2019 |
| LOC126863207 | 1 | Dec 30, 2022 |
| LOC127898564 | 9 | Dec 24, 2025 |
| LOC129929241 | 1 | Dec 24, 2025 |
| LOC129929426 | 1 | Dec 24, 2025 |
| LOC129929540 | 1 | Sep 25, 2019 |
| LOC129930446 | 1 | Dec 30, 2022 |
| LOC129930561 | 1 | Aug 31, 2018 |
| LOC129930655 | 1 | Aug 31, 2018 |
| LOC129931597 | 4 | Dec 24, 2025 |
| LOC129932155 | 1 | Aug 31, 2018 |
| LOC129932486 | 10 | Dec 24, 2025 |
| LOC129933334 | 1 | Sep 25, 2019 |
| LOC129934236 | 1 | Aug 31, 2018 |
| LOC129934925 | 6 | Dec 31, 2024 |
| LOC129935183 | 6 | Dec 31, 2024 |
| LOC129935184 | 1 | Sep 25, 2019 |
| LOC129935185 | 1 | Sep 25, 2019 |
| LOC129935186 | 1 | Aug 17, 2017 |
| LOC129935730 | 2 | Dec 27, 2022 |
| LOC129936665 | 1 | Dec 31, 2024 |
| LOC129992585 | 3 | Dec 24, 2025 |
| LOC129992813 | 13 | Dec 31, 2024 |
| LOC129992892 | 1 | Sep 25, 2019 |
| LOC129994205 | 1 | Aug 31, 2018 |
| LOC129995449 | 2 | Aug 31, 2018 |
| LOC129997381 | 6 | Dec 24, 2025 |
| LOC129997480 | 9 | Dec 24, 2025 |
| LOC129997861 | 2 | Sep 13, 2021 |
| LOC129998005 | 4 | Dec 24, 2025 |
| LOC129998395 | 3 | Dec 24, 2025 |
| LOC129998533 | 3 | Dec 30, 2020 |
| LOC129999273 | 1 | Sep 13, 2021 |
| LOC129999940 | 1 | Aug 31, 2018 |
| LOC130000523 | 1 | Sep 13, 2021 |
| LOC130000622 | 3 | Dec 31, 2024 |
| LOC130001334 | 3 | Dec 24, 2025 |
| LOC130001338 | 4 | Dec 30, 2020 |
| LOC130001342 | 3 | Dec 31, 2024 |
| LOC130001681 | 3 | Dec 30, 2020 |
| LOC130001862 | 24 | Dec 24, 2025 |
| LOC130002651 | 1 | Aug 17, 2017 |
| LOC130003093 | 1 | Sep 25, 2019 |
| LOC130003278 | 1 | Dec 30, 2020 |
| LOC130003959 | 1 | Dec 30, 2020 |
| LOC130004254 | 1 | Sep 25, 2019 |
| LOC130006061 | 1 | Dec 24, 2025 |
| LOC130007218 | 2 | Dec 24, 2025 |
| LOC130009366 | 6 | Dec 24, 2025 |
| LOC130009747 | 3 | Dec 27, 2022 |
| LOC130009913 | 1 | Dec 24, 2025 |
| LOC130055692 | 5 | Dec 24, 2025 |
| LOC130056709 | 4 | Dec 31, 2024 |
| LOC130056973 | 3 | Dec 31, 2024 |
| LOC130058068 | 2 | Aug 31, 2018 |
| LOC130059156 | 1 | Aug 17, 2017 |
| LOC130059394 | 3 | Dec 30, 2020 |
| LOC130059818 | 10 | Dec 24, 2025 |
| LOC130060040 | 2 | Jan 3, 2024 |
| LOC130060041 | 1 | Dec 24, 2025 |
| LOC130060147 | 1 | Dec 30, 2022 |
| LOC130061940 | 1 | Sep 13, 2021 |
| LOC130062084 | 1 | Sep 25, 2019 |
| LOC130062945 | 1 | Sep 25, 2019 |
| LOC130063065 | 1 | Sep 25, 2019 |
| LOC130063066 | 1 | Aug 17, 2017 |
| LOC130063169 | 14 | Dec 31, 2024 |
| LOC130063807 | 4 | Dec 24, 2025 |
| LOC130064357 | 1 | Dec 31, 2024 |
| LOC130064454 | 3 | Sep 13, 2021 |
| LOC130064543 | 1 | Aug 17, 2017 |
| LOC130065345 | 4 | Sep 25, 2019 |
| LOC130066788 | 3 | Dec 27, 2022 |
| LOC130067862 | 2 | Aug 31, 2018 |
| LOC130067864 | 1 | Aug 17, 2017 |
| LOC130068339 | 3 | Dec 24, 2025 |
| LOC130068621 | 2 | Dec 30, 2020 |
| LOC130068746 | 1 | Aug 31, 2018 |
| LOC132090595 | 1 | Aug 31, 2018 |
| LOXHD1 | 23 | Dec 31, 2024 |
| LRP5 | 12 | Dec 24, 2025 |
| LRRC37A2 | 9 | Dec 24, 2025 |
| LRRC51 | 1 | Sep 25, 2019 |
| LRRC56 | 1 | Dec 30, 2022 |
| LRRK2 | 44 | Dec 24, 2025 |
| LRTOMT | 4 | Sep 25, 2019 |
| LZTR1 | 2 | Oct 2, 2024 |
| MAF | 6 | Dec 31, 2024 |
| MAGI2 | 24 | Dec 31, 2024 |
| MAGI2-AS3 | 2 | Sep 25, 2019 |
| MANBA | 4 | Dec 30, 2020 |
| MAP4K5 | 1 | Sep 13, 2021 |
| MAPT | 28 | Dec 24, 2025 |
| MARVELD2 | 4 | Sep 13, 2021 |
| MASP2 | 1 | Dec 27, 2022 |
| MATR3 | 2 | Aug 17, 2017 |
| MBD5 | 16 | Dec 31, 2024 |
| MC4R | 15 | Dec 24, 2025 |
| MCM2 | 8 | Dec 24, 2025 |
| MCOLN1 | 3 | Dec 24, 2025 |
| MCPH1 | 30 | Dec 24, 2025 |
| MCPH1-AS1 | 9 | Dec 31, 2024 |
| ME2 | 3 | Aug 17, 2017 |
| MECP2 | 25 | Dec 24, 2025 |
| MED12 | 1 | Dec 30, 2022 |
| MEF2C | 4 | Dec 24, 2025 |
| MEF2C-AS2 | 1 | Jan 3, 2024 |
| MEGF10 | 13 | Dec 24, 2025 |
| MEN1 | 18 | Dec 31, 2024 |
| MESD | 1 | Sep 25, 2019 |
| MET | 6 | Sep 25, 2019 |
| MFF-DT | 68 | Dec 31, 2024 |
| MFN2 | 105 | Dec 24, 2025 |
| MFSD8 | 7 | Dec 24, 2025 |
| MHRT | 8 | Dec 24, 2025 |
| MID1 | 1 | Dec 30, 2022 |
| MIF4GD-DT | 3 | Dec 31, 2024 |
| MINK1 | 1 | Aug 31, 2018 |
| MIR1225 | 1 | Sep 25, 2019 |
| MIR208B | 1 | Dec 31, 2024 |
| MIR3936HG | 2 | Dec 30, 2020 |
| MIR6084 | 2 | Aug 31, 2018 |
| MIR6511B1 | 3 | Dec 27, 2022 |
| MIR6766 | 1 | Dec 31, 2024 |
| MIR6795 | 1 | Sep 13, 2021 |
| MIR7108 | 1 | Dec 31, 2024 |
| MIR96 | 2 | Sep 25, 2019 |
| MITF | 6 | Dec 30, 2020 |
| MMACHC | 2 | Dec 30, 2022 |
| MPDZ | 1 | Dec 30, 2022 |
| MPV17 | 2 | Dec 27, 2022 |
| MPZ | 68 | Dec 24, 2025 |
| MRE11 | 84 | Dec 24, 2025 |
| MSRB3 | 1 | Dec 30, 2020 |
| MT-CO1 | 27 | Sep 13, 2021 |
| MT-CO2 | 11 | Dec 30, 2020 |
| MT-ND1 | 19 | Sep 13, 2021 |
| MT-RNR1 | 13 | Jan 3, 2024 |
| MT-TI | 1 | Sep 25, 2019 |
| MT-TK | 2 | Jan 3, 2024 |
| MT-TQ | 2 | Dec 30, 2020 |
| MT-TS1 | 1 | Sep 25, 2019 |
| MT-TS2 | 2 | Dec 30, 2020 |
| MTM1 | 4 | Dec 31, 2024 |
| MTMR2 | 23 | Dec 24, 2025 |
| MTPAP | 54 | Dec 24, 2025 |
| MUSK | 11 | Dec 31, 2024 |
| MVP-DT | 18 | Dec 24, 2025 |
| MYBPC3 | 15 | Dec 24, 2025 |
| MYH11 | 1 | Aug 17, 2017 |
| MYH14 | 24 | Sep 13, 2021 |
| MYH2 | 9 | Dec 24, 2025 |
| MYH7 | 24 | Dec 24, 2025 |
| MYH9 | 13 | Dec 27, 2022 |
| MYHAS | 9 | Dec 24, 2025 |
| MYO15A | 28 | Dec 31, 2024 |
| MYO3A | 10 | Dec 30, 2020 |
| MYO6 | 9 | Sep 25, 2019 |
| MYO7A | 29 | Jan 3, 2024 |
| MYOT | 24 | Dec 24, 2025 |
| NALCN | 1 | Dec 30, 2022 |
| NARS2 | 6 | Jan 3, 2024 |
| NDE1 | 7 | Dec 31, 2024 |
| NDP | 1 | Sep 25, 2019 |
| NDP-AS1 | 1 | Sep 25, 2019 |
| NDRG1 | 31 | Dec 24, 2025 |
| NDUFA1 | 2 | Dec 30, 2020 |
| NDUFAF5 | 1 | Dec 30, 2022 |
| NDUFB3 | 1 | Dec 30, 2022 |
| NEB | 140 | Dec 24, 2025 |
| NEFL | 41 | Dec 24, 2025 |
| NEXMIF | 12 | Dec 31, 2024 |
| NF1 | 101 | Dec 24, 2025 |
| NF2 | 13 | Dec 24, 2025 |
| NHLRC1 | 8 | Jan 3, 2024 |
| NICN1 | 1 | Sep 25, 2019 |
| NIPA1 | 12 | Dec 24, 2025 |
| NIPBL | 28 | Dec 24, 2025 |
| NKX2-1 | 1 | Dec 30, 2022 |
| NKX2-5 | 1 | Dec 30, 2022 |
| NLRP3 | 12 | Dec 30, 2022 |
| NOC3L | 2 | Aug 17, 2017 |
| NOTCH3 | 601 | Dec 24, 2025 |
| NPC1 | 2 | Dec 30, 2022 |
| NPHS1 | 42 | Dec 31, 2024 |
| NPHS2 | 30 | Dec 24, 2025 |
| NR0B1 | 9 | Dec 31, 2024 |
| NR2F1 | 2 | Aug 31, 2018 |
| NR2F1-AS1 | 1 | Aug 31, 2018 |
| NR3C2 | 2 | Dec 30, 2022 |
| NRXN1 | 26 | Dec 24, 2025 |
| NSD1 | 1 | Dec 30, 2022 |
| NTRK1 | 18 | Dec 31, 2024 |
| OFD1 | 10 | Dec 24, 2025 |
| OPA1 | 101 | Dec 24, 2025 |
| OPA1-AS1 | 3 | Dec 24, 2025 |
| OPHN1 | 10 | Dec 24, 2025 |
| OPTN | 20 | Dec 24, 2025 |
| OSBPL2 | 5 | Sep 13, 2021 |
| OTC | 1 | Dec 30, 2022 |
| OTOA | 5 | Jan 3, 2024 |
| OTOF | 33 | Dec 31, 2024 |
| OTOG | 41 | Jan 3, 2024 |
| OTOGL | 11 | Dec 30, 2020 |
| OTOP2 | 1 | Sep 25, 2019 |
| OXTR | 18 | Dec 24, 2025 |
| P2RX2 | 4 | Dec 30, 2020 |
| PACRG | 1 | Sep 25, 2019 |
| PAFAH1B1 | 3 | Dec 24, 2025 |
| PAK3 | 3 | Sep 25, 2019 |
| PANK2 | 11 | Dec 24, 2025 |
| PANK2-AS1 | 1 | Sep 25, 2019 |
| PARK7 | 9 | Dec 31, 2024 |
| PAX3 | 3 | Dec 30, 2020 |
| PAX6 | 1 | Dec 31, 2024 |
| PCCB | 2 | Dec 30, 2022 |
| PCDH15 | 24 | Jan 3, 2024 |
| PCDH19 | 28 | Dec 24, 2025 |
| PDCD10 | 2 | Dec 31, 2024 |
| PDHA1 | 3 | Dec 27, 2022 |
| PDX1 | 37 | Dec 24, 2025 |
| PDYN | 34 | Dec 24, 2025 |
| PDYN-AS1 | 34 | Dec 24, 2025 |
| PDZD7 | 13 | Dec 31, 2024 |
| PEX1 | 12 | Dec 30, 2022 |
| PEX6 | 11 | Dec 30, 2022 |
| PEX7 | 6 | Jan 3, 2024 |
| PFN1 | 2 | Dec 24, 2025 |
| PHEX | 28 | Dec 31, 2024 |
| PHEX-AS1 | 1 | Aug 31, 2018 |
| PHF6 | 1 | Dec 27, 2022 |
| PHGDH | 12 | Dec 31, 2024 |
| PHKA2 | 1 | Dec 30, 2022 |
| PI4KA | 1 | Aug 31, 2018 |
| PIGA | 3 | Sep 25, 2019 |
| PIGN | 21 | Dec 24, 2025 |
| PIGO | 17 | Dec 31, 2024 |
| PIGV | 4 | Dec 24, 2025 |
| PINK1 | 24 | Dec 24, 2025 |
| PINK1-AS | 16 | Dec 24, 2025 |
| PJVK | 1 | Sep 25, 2019 |
| PKD1 | 574 | Dec 24, 2025 |
| PKD1-AS1 | 58 | Dec 24, 2025 |
| PKD2 | 69 | Dec 24, 2025 |
| PKD2L2-DT | 24 | Dec 24, 2025 |
| PKP2 | 1 | Dec 30, 2022 |
| PLA2G6 | 13 | Dec 24, 2025 |
| PLCB1 | 20 | Dec 24, 2025 |
| PLCE1 | 23 | Dec 30, 2020 |
| PLCE1-AS1 | 1 | Sep 25, 2019 |
| PLD3 | 1 | Jul 17, 2017 |
| PLEC | 433 | Dec 24, 2025 |
| PLP1 | 7 | Dec 24, 2025 |
| PLUT | 9 | Dec 24, 2025 |
| PLXNB3-AS1 | 28 | Dec 24, 2025 |
| PMP22 | 38 | Dec 24, 2025 |
| PNKD | 5 | Dec 31, 2024 |
| PNKP | 17 | Dec 24, 2025 |
| PNPLA6 | 55 | Dec 24, 2025 |
| PNPO | 8 | Dec 30, 2022 |
| PNPT1 | 5 | Dec 30, 2022 |
| POLG | 229 | Dec 24, 2025 |
| POLGARF | 225 | Dec 24, 2025 |
| POLR1C | 3 | Dec 30, 2020 |
| POLR1D | 5 | Sep 25, 2019 |
| POLR2F | 4 | Dec 27, 2022 |
| POMGNT1 | 28 | Dec 24, 2025 |
| POMGNT2 | 5 | Dec 30, 2022 |
| POMT1 | 66 | Dec 24, 2025 |
| POMT2 | 41 | Dec 24, 2025 |
| POU1F1 | 1 | Aug 31, 2018 |
| POU4F3 | 3 | Sep 25, 2019 |
| PPT1 | 5 | Dec 24, 2025 |
| PQBP1 | 3 | Dec 31, 2024 |
| PRADX | 4 | Sep 25, 2019 |
| PRICKLE1 | 24 | Dec 24, 2025 |
| PRICKLE2 | 21 | Dec 24, 2025 |
| PRICKLE2-AS1 | 2 | Dec 24, 2025 |
| PRIMA1 | 6 | Dec 31, 2024 |
| PRKCG | 88 | Dec 24, 2025 |
| PRKN | 25 | Dec 24, 2025 |
| PROK2 | 2 | Dec 27, 2022 |
| PROKR2 | 7 | Dec 31, 2024 |
| PROP1 | 5 | Aug 31, 2018 |
| PRPS1 | 1 | Dec 30, 2020 |
| PRRT2 | 19 | Dec 24, 2025 |
| PRX | 99 | Dec 24, 2025 |
| PSEN1 | 59 | Dec 24, 2025 |
| PSEN2 | 29 | Dec 24, 2025 |
| PTCHD1-AS | 8 | Jan 3, 2024 |
| PTEN | 1 | Aug 31, 2018 |
| PTPN11 | 7 | Dec 31, 2024 |
| PTPRQ | 19 | Dec 30, 2020 |
| PURA | 2 | Dec 31, 2024 |
| QARS1 | 13 | Dec 24, 2025 |
| RAB33A | 2 | Sep 25, 2019 |
| RAB39B | 1 | Dec 30, 2020 |
| RAB3GAP1 | 20 | Dec 24, 2025 |
| RAB7A | 11 | Dec 24, 2025 |
| RAB9B | 7 | Dec 24, 2025 |
| RAF1 | 1 | Dec 30, 2022 |
| RAI1 | 32 | Dec 24, 2025 |
| RAPSN | 8 | Dec 24, 2025 |
| RARS2 | 2 | Dec 30, 2022 |
| RBFOX1 | 11 | Dec 31, 2024 |
| RBM27-POU4F3 | 3 | Sep 25, 2019 |
| RDX | 3 | Dec 30, 2020 |
| REEP1 | 21 | Dec 24, 2025 |
| RELN | 73 | Dec 24, 2025 |
| RET | 25 | Dec 24, 2025 |
| RIF1 | 25 | Dec 24, 2025 |
| RIPOR2 | 21 | Dec 24, 2025 |
| RNASE4 | 8 | Dec 24, 2025 |
| RNASEH2A | 6 | Dec 31, 2024 |
| RNASEH2B | 10 | Dec 24, 2025 |
| RNASEH2C | 4 | Dec 24, 2025 |
| RNF17 | 5 | Dec 24, 2025 |
| RNR1 | 1 | Sep 25, 2019 |
| ROGDI | 14 | Dec 24, 2025 |
| ROR1 | 3 | Sep 25, 2019 |
| RPL36A-HNRNPH2 | 1 | Dec 30, 2022 |
| RRM2B | 2 | Sep 25, 2019 |
| RS1 | 5 | Dec 24, 2025 |
| RTN2 | 31 | Dec 24, 2025 |
| RXYLT1 | 5 | Sep 13, 2021 |
| RXYLT1-AS1 | 1 | Aug 31, 2018 |
| RYR1 | 105 | Dec 24, 2025 |
| S100PBP | 1 | Dec 31, 2024 |
| S1PR2 | 3 | Dec 30, 2020 |
| SACS | 464 | Dec 24, 2025 |
| SALL1 | 8 | Dec 30, 2020 |
| SAMHD1 | 5 | Dec 31, 2024 |
| SBF2 | 90 | Dec 24, 2025 |
| SBF2-AS1 | 21 | Dec 24, 2025 |
| SCARB2 | 12 | Dec 24, 2025 |
| SCN1A | 123 | Dec 24, 2025 |
| SCN1A-AS1 | 39 | Dec 24, 2025 |
| SCN1B | 10 | Dec 31, 2024 |
| SCN2A | 49 | Dec 24, 2025 |
| SCN3A | 25 | Dec 24, 2025 |
| SCN4A | 245 | Dec 24, 2025 |
| SCN5A | 54 | Dec 24, 2025 |
| SCN8A | 21 | Dec 24, 2025 |
| SCN9A | 48 | Dec 24, 2025 |
| SCNN1B | 29 | Dec 24, 2025 |
| SCNN1G | 14 | Dec 31, 2024 |
| SCO2 | 3 | Sep 25, 2019 |
| SDHB | 8 | Dec 24, 2025 |
| SELENON | 18 | Dec 24, 2025 |
| SEMA3E | 5 | Sep 13, 2021 |
| SEPTIN9 | 10 | Dec 31, 2024 |
| SERPINB6 | 4 | Dec 30, 2020 |
| SERPINI1 | 10 | Dec 24, 2025 |
| SETBP1 | 21 | Dec 24, 2025 |
| SETD2 | 25 | Dec 24, 2025 |
| SETX | 362 | Dec 24, 2025 |
| SFTA3 | 1 | Dec 30, 2022 |
| SGCA | 30 | Dec 24, 2025 |
| SGCB | 16 | Dec 24, 2025 |
| SGCD | 14 | Dec 24, 2025 |
| SGCE | 33 | Dec 31, 2024 |
| SGCG | 27 | Dec 24, 2025 |
| SH3TC2 | 95 | Dec 24, 2025 |
| SHANK2 | 1 | Aug 31, 2018 |
| SHANK3 | 2 | Dec 31, 2024 |
| SHH | 8 | Dec 24, 2025 |
| SHLD2 | 1 | Aug 31, 2018 |
| SHOC2 | 1 | Dec 30, 2022 |
| SHOX | 84 | Dec 24, 2025 |
| SIGMAR1 | 8 | Dec 24, 2025 |
| SIK1 | 20 | Dec 24, 2025 |
| SIL1 | 70 | Dec 24, 2025 |
| SIX1 | 1 | Sep 25, 2019 |
| SIX3 | 13 | Dec 24, 2025 |
| SIX5 | 4 | Sep 13, 2021 |
| SLC12A1 | 24 | Dec 31, 2024 |
| SLC12A3 | 62 | Dec 24, 2025 |
| SLC13A5 | 8 | Dec 24, 2025 |
| SLC17A8 | 3 | Dec 30, 2020 |
| SLC19A1 | 12 | Aug 31, 2018 |
| SLC19A2 | 2 | Sep 25, 2019 |
| SLC19A3 | 21 | Dec 24, 2025 |
| SLC1A3 | 67 | Dec 24, 2025 |
| SLC1A3-AS1 | 52 | Dec 24, 2025 |
| SLC22A4 | 3 | Dec 30, 2020 |
| SLC25A19 | 6 | Dec 31, 2024 |
| SLC25A22 | 11 | Dec 24, 2025 |
| SLC25A4 | 4 | Dec 31, 2024 |
| SLC26A4 | 10 | Dec 30, 2020 |
| SLC26A4-AS1 | 1 | Sep 25, 2019 |
| SLC26A5 | 4 | Dec 27, 2022 |
| SLC26A5-AS1 | 9 | Dec 24, 2025 |
| SLC2A1 | 22 | Dec 24, 2025 |
| SLC33A1 | 15 | Dec 24, 2025 |
| SLC35A2 | 5 | Dec 30, 2020 |
| SLC4A10 | 15 | Dec 24, 2025 |
| SLC4A11 | 11 | Dec 30, 2020 |
| SLC6A1 | 18 | Dec 24, 2025 |
| SLC6A1-AS1 | 4 | Dec 24, 2025 |
| SLC6A8 | 19 | Dec 24, 2025 |
| SLC9A6 | 12 | Dec 31, 2024 |
| SLITRK6 | 6 | Sep 25, 2019 |
| SMARCA4 | 1 | Dec 30, 2022 |
| SMC1A | 6 | Dec 31, 2024 |
| SMC3 | 13 | Dec 24, 2025 |
| SMCHD1 | 33 | Dec 24, 2025 |
| SMN1 | 40 | Dec 24, 2025 |
| SMS | 2 | Dec 30, 2020 |
| SNAI2 | 1 | Sep 25, 2019 |
| SNAP25 | 3 | Dec 24, 2025 |
| SNAP29 | 7 | Dec 31, 2024 |
| SNHG14 | 10 | Dec 24, 2025 |
| SOD1 | 35 | Dec 24, 2025 |
| SOD1-DT | 4 | Dec 31, 2024 |
| SOS1 | 3 | Dec 30, 2022 |
| SOX10 | 4 | Dec 27, 2022 |
| SOX9 | 1 | Dec 30, 2022 |
| SPART | 13 | Dec 24, 2025 |
| SPAST | 165 | Dec 24, 2025 |
| SPG11 | 117 | Dec 24, 2025 |
| SPG21 | 8 | Dec 24, 2025 |
| SPG7 | 76 | Dec 24, 2025 |
| SPTA1 | 1 | Dec 30, 2022 |
| SPTAN1 | 44 | Dec 24, 2025 |
| SPTBN2 | 334 | Dec 24, 2025 |
| SPTLC1 | 6 | Dec 31, 2024 |
| SPTLC2 | 3 | Jan 3, 2024 |
| SQSTM1 | 33 | Dec 24, 2025 |
| SRPX2 | 5 | Sep 25, 2019 |
| SSUH2 | 6 | Dec 31, 2024 |
| ST3GAL3 | 7 | Dec 24, 2025 |
| ST3GAL5 | 8 | Dec 24, 2025 |
| STAR | 6 | Sep 25, 2019 |
| STIL | 16 | Dec 24, 2025 |
| STON1-GTF2A1L | 10 | Dec 31, 2024 |
| STRC | 11 | Dec 30, 2020 |
| STX1B | 6 | Sep 25, 2019 |
| STXBP1 | 13 | Dec 24, 2025 |
| SUCLA2 | 13 | Dec 31, 2024 |
| SYN1 | 11 | Dec 24, 2025 |
| SYNE1 | 1138 | Dec 24, 2025 |
| SYNE1-AS1 | 12 | Dec 24, 2025 |
| SYNE1-AS2 | 1 | Aug 31, 2018 |
| SYNE2 | 198 | Dec 24, 2025 |
| SYNE4 | 3 | Dec 30, 2020 |
| SYNGAP1 | 13 | Dec 24, 2025 |
| SYNGAP1-AS1 | 10 | Dec 24, 2025 |
| SYNJ1 | 31 | Dec 24, 2025 |
| SYP | 1 | Aug 31, 2018 |
| SYT14 | 46 | Dec 24, 2025 |
| SZT2 | 58 | Dec 24, 2025 |
| SZT2-AS1 | 1 | Dec 24, 2025 |
| TACR3 | 5 | Dec 31, 2024 |
| TACR3-AS1 | 3 | Dec 31, 2024 |
| TAPBPL | 14 | Dec 31, 2024 |
| TARDBP | 19 | Dec 24, 2025 |
| TARID | 1 | Sep 25, 2019 |
| TBC1D24 | 20 | Dec 31, 2024 |
| TBCEL-TECTA | 13 | Sep 13, 2021 |
| TBL1XR1 | 8 | Dec 24, 2025 |
| TBL1XR1-AS1 | 2 | Aug 31, 2018 |
| TBX1 | 19 | Dec 24, 2025 |
| TCAP | 11 | Dec 31, 2024 |
| TCF4 | 12 | Dec 24, 2025 |
| TCF4-AS1 | 1 | Dec 24, 2025 |
| TCOF1 | 15 | Sep 13, 2021 |
| TDP1 | 73 | Dec 24, 2025 |
| TECTA | 13 | Sep 13, 2021 |
| TFAP2A | 2 | Sep 25, 2019 |
| TGFBR1 | 1 | Dec 31, 2024 |
| TGFBR2 | 2 | Dec 31, 2024 |
| TGM6 | 159 | Dec 24, 2025 |
| TH | 23 | Dec 24, 2025 |
| THAP1 | 9 | Dec 24, 2025 |
| TIA1 | 5 | Dec 31, 2024 |
| TJP2 | 12 | Sep 13, 2021 |
| TK2 | 3 | Dec 31, 2024 |
| TLDC2 | 1 | Dec 31, 2024 |
| TMC1 | 10 | Dec 30, 2020 |
| TMEM132E | 8 | Sep 13, 2021 |
| TMEM216 | 1 | Aug 17, 2017 |
| TMEM43 | 13 | Dec 24, 2025 |
| TMEM67 | 2 | Aug 17, 2017 |
| TMEM70 | 2 | Dec 30, 2022 |
| TMPRSS3 | 4 | Dec 30, 2020 |
| TNC | 21 | Sep 13, 2021 |
| TNNI3 | 1 | Dec 31, 2024 |
| TNNT1 | 3 | Dec 24, 2025 |
| TNXB | 5 | Dec 24, 2025 |
| TOMT | 2 | Sep 25, 2019 |
| TPI1 | 1 | Dec 30, 2022 |
| TPM2 | 2 | Dec 30, 2020 |
| TPM3 | 3 | Dec 31, 2024 |
| TPP1 | 22 | Dec 31, 2024 |
| TPRN | 3 | Sep 25, 2019 |
| TRAPPC11 | 43 | Dec 24, 2025 |
| TRAPPC2L | 1 | Aug 31, 2018 |
| TREX1 | 10 | Sep 25, 2019 |
| TRIM32 | 17 | Dec 24, 2025 |
| TRIOBP | 11 | Dec 30, 2020 |
| TRPC6 | 19 | Dec 27, 2022 |
| TRPV4 | 81 | Dec 24, 2025 |
| TSC1 | 80 | Dec 24, 2025 |
| TSC2 | 256 | Dec 24, 2025 |
| TSEN54 | 23 | Dec 24, 2025 |
| TSPAN1 | 25 | Dec 24, 2025 |
| TSPEAR | 8 | Sep 25, 2019 |
| TSPEAR-AS1 | 1 | Sep 25, 2019 |
| TSR2 | 3 | Sep 25, 2019 |
| TTBK2 | 107 | Dec 24, 2025 |
| TTN | 1489 | Dec 24, 2025 |
| TTN-AS1 | 825 | Dec 24, 2025 |
| TTPA | 35 | Dec 24, 2025 |
| TTR | 47 | Dec 24, 2025 |
| TUBA1A | 11 | Dec 24, 2025 |
| TUBA8 | 8 | Dec 24, 2025 |
| TUBB2B | 5 | Dec 24, 2025 |
| TUBB6 | 6 | Dec 24, 2025 |
| TWNK | 17 | Dec 31, 2024 |
| TYMP | 5 | Sep 25, 2019 |
| UBA1 | 4 | Dec 31, 2024 |
| UBE3A | 10 | Dec 24, 2025 |
| UBQLN2 | 12 | Dec 24, 2025 |
| UGT1A | 1 | Dec 30, 2022 |
| UGT1A1 | 1 | Dec 30, 2022 |
| UGT1A10 | 1 | Dec 30, 2022 |
| UGT1A3 | 1 | Dec 30, 2022 |
| UGT1A4 | 1 | Dec 30, 2022 |
| UGT1A5 | 1 | Dec 30, 2022 |
| UGT1A6 | 1 | Dec 30, 2022 |
| UGT1A7 | 1 | Dec 30, 2022 |
| UGT1A8 | 1 | Dec 30, 2022 |
| UGT1A9 | 1 | Dec 30, 2022 |
| UMOD | 13 | Dec 24, 2025 |
| USH1C | 5 | Sep 25, 2019 |
| USH1G | 4 | Sep 25, 2019 |
| USH2A | 47 | Dec 31, 2024 |
| USH2A-AS1 | 3 | Sep 25, 2019 |
| USH2A-AS2 | 2 | Sep 13, 2021 |
| VAMP1 | 14 | Dec 31, 2024 |
| VAPB | 8 | Dec 24, 2025 |
| VCP | 20 | Dec 24, 2025 |
| VHL | 9 | Dec 24, 2025 |
| VPS13A | 69 | Dec 24, 2025 |
| VPS13B | 72 | Dec 24, 2025 |
| VRK1 | 2 | Dec 31, 2024 |
| WASHC5 | 34 | Dec 24, 2025 |
| WASHC5-AS1 | 3 | Dec 24, 2025 |
| WDR45 | 6 | Dec 31, 2024 |
| WDR62 | 42 | Dec 24, 2025 |
| WFS1 | 17 | Dec 24, 2025 |
| WHRN | 11 | Sep 13, 2021 |
| WNK1 | 24 | Dec 24, 2025 |
| WT1 | 15 | Dec 31, 2024 |
| WWOX | 36 | Dec 24, 2025 |
| YARS1 | 21 | Dec 24, 2025 |
| ZDHHC24 | 5 | Sep 25, 2019 |
| ZEB2 | 14 | Dec 24, 2025 |
| ZFYVE26 | 101 | Dec 24, 2025 |
| ZRANB3 | 2 | Aug 31, 2018 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 1 test |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 4 tests |
| ALG9 congenital disorder of glycosylation | 4 tests |
| Aarskog syndrome | 2 tests |
| Absence seizure | 2 tests |
| Achondroplasia | 2 tests |
| Actin accumulation myopathy | 1 test |
| Action myoclonus-renal failure syndrome | 2 tests |
| Adenylosuccinate lyase deficiency | 5 tests |
| Adrenoleukodystrophy | 3 tests |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 1 test |
| Aicardi-Goutieres syndrome 1 | 2 tests |
| Aicardi-Goutieres syndrome 2 | 2 tests |
| Aicardi-Goutieres syndrome 3 | 2 tests |
| Aicardi-Goutieres syndrome 4 | 2 tests |
| Aicardi-Goutieres syndrome 5 | 2 tests |
| Alexander disease | 4 tests |
| Alternating hemiplegia of childhood 2 | 2 tests |
| Alzheimer disease | 2 tests |
| Alzheimer disease 2 | 1 test |
| Alzheimer disease 3 | 2 tests |
| Alzheimer disease 4 | 2 tests |
| Amelocerebrohypohidrotic syndrome | 2 tests |
| Amyloidosis, hereditary systemic 1 | 2 tests |
| Amyotrophic lateral sclerosis type 1 | 3 tests |
| Amyotrophic lateral sclerosis type 10 | 2 tests |
| Amyotrophic lateral sclerosis type 12 | 2 tests |
| Amyotrophic lateral sclerosis type 15 | 2 tests |
| Amyotrophic lateral sclerosis type 16 | 2 tests |
| Amyotrophic lateral sclerosis type 18 | 2 tests |
| Amyotrophic lateral sclerosis type 2, juvenile | 6 tests |
| Amyotrophic lateral sclerosis type 21 | 1 test |
| Amyotrophic lateral sclerosis type 4 | 5 tests |
| Amyotrophic lateral sclerosis type 6 | 2 tests |
| Amyotrophic lateral sclerosis type 8 | 2 tests |
| Amyotrophic lateral sclerosis type 9 | 2 tests |
| Amyotrophic neuralgia | 1 test |
| Andersen Tawil syndrome | 1 test |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 test |
| Angelman syndrome | 2 tests |
| Aniridia 1 | 2 tests |
| Apparent mineralocorticoid excess | 3 tests |
| Arginine:glycine amidinotransferase deficiency | 3 tests |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 4 tests |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 3 tests |
| Ataxia-telangiectasia syndrome | 4 tests |
| Ataxia-telangiectasia-like disorder | 3 tests |
| Ateleiotic dwarfism | 2 tests |
| Autism, susceptibility to, 17 | 1 test |
| Autosomal dominant Alport syndrome | 2 tests |
| Autosomal dominant Parkinson disease 1 | 3 tests |
| Autosomal dominant Parkinson disease 4 | 3 tests |
| Autosomal dominant Parkinson disease 8 | 3 tests |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 test |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 test |
| Autosomal dominant hypocalcemia 1 | 1 test |
| Autosomal dominant hypophosphatemic rickets | 2 tests |
| Autosomal dominant isolated somatotropin deficiency | 2 tests |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 3A | 2 tests |
| Autosomal dominant nonsyndromic hearing loss 3B | 2 tests |
| Autosomal dominant optic atrophy classic form | 1 test |
| Autosomal recessive Alport syndrome | 3 tests |
| Autosomal recessive DOPA responsive dystonia | 2 tests |
| Autosomal recessive ataxia due to ubiquinone deficiency | 3 tests |
| Autosomal recessive ataxia, Beauce type | 3 tests |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
| Autosomal recessive distal spinal muscular atrophy 2 | 2 tests |
| Autosomal recessive early-onset Parkinson disease 6 | 3 tests |
| Autosomal recessive early-onset Parkinson disease 7 | 3 tests |
| Autosomal recessive juvenile Parkinson disease 2 | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 5 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 1A | 3 tests |
| Autosomal recessive nonsyndromic hearing loss 1B | 2 tests |
| Autosomal recessive spinocerebellar ataxia 10 | 3 tests |
| Autosomal recessive spinocerebellar ataxia 11 | 3 tests |
| Autosomal recessive spinocerebellar ataxia 13 | 3 tests |
| Autosomal recessive spinocerebellar ataxia 14 | 2 tests |
| Azorean disease | 4 tests |
| Bardet-Biedl syndrome | 4 tests |
| Bartter disease type 1 | 2 tests |
| Bartter disease type 2 | 2 tests |
| Bartter disease type 3 | 2 tests |
| Bartter disease type 4A | 2 tests |
| Bartter disease type 4B | 2 tests |
| Becker muscular dystrophy | 4 tests |
| Bethlem myopathy 1A | 1 test |
| Bilateral frontoparietal polymicrogyria | 2 tests |
| Biotin-responsive basal ganglia disease | 3 tests |
| Borjeson-Forssman-Lehmann syndrome | 2 tests |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 tests |
| Brain small vessel disease 1 with or without ocular anomalies | 3 tests |
| Branched-chain keto acid dehydrogenase kinase deficiency | 3 tests |
| Brody myopathy | 1 test |
| Brugada syndrome 1 | 2 tests |
| Brugada syndrome 9 | 2 tests |
| CARASIL syndrome | 1 test |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 2 tests |
| Cataract 16 multiple types | 1 test |
| Central core myopathy | 1 test |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 4 tests |
| Cerebral cavernous malformation | 2 tests |
| Cerebral cavernous malformation 2 | 2 tests |
| Cerebral cavernous malformation 3 | 2 tests |
| Cerebral folate transport deficiency | 4 tests |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 2 tests |
| Ceroid lipofuscinosis, neuronal, 6A | 2 tests |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 8 tests |
| Charcot-Marie-Tooth disease axonal type 2C | 8 tests |
| Charcot-Marie-Tooth disease axonal type 2F | 8 tests |
| Charcot-Marie-Tooth disease axonal type 2K | 9 tests |
| Charcot-Marie-Tooth disease axonal type 2L | 8 tests |
| Charcot-Marie-Tooth disease dominant intermediate B | 13 tests |
| Charcot-Marie-Tooth disease dominant intermediate C | 10 tests |
| Charcot-Marie-Tooth disease dominant intermediate D | 9 tests |
| Charcot-Marie-Tooth disease recessive intermediate A | 5 tests |
| Charcot-Marie-Tooth disease type 1B | 9 tests |
| Charcot-Marie-Tooth disease type 1C | 7 tests |
| Charcot-Marie-Tooth disease type 1D | 8 tests |
| Charcot-Marie-Tooth disease type 1E | 11 tests |
| Charcot-Marie-Tooth disease type 1F | 7 tests |
| Charcot-Marie-Tooth disease type 2A2 | 6 tests |
| Charcot-Marie-Tooth disease type 2B | 7 tests |
| Charcot-Marie-Tooth disease type 2B1 | 12 tests |
| Charcot-Marie-Tooth disease type 2D | 8 tests |
| Charcot-Marie-Tooth disease type 2E | 7 tests |
| Charcot-Marie-Tooth disease type 2I | 9 tests |
| Charcot-Marie-Tooth disease type 2J | 9 tests |
| Charcot-Marie-Tooth disease type 2Y | 1 test |
| Charcot-Marie-Tooth disease type 4A | 9 tests |
| Charcot-Marie-Tooth disease type 4B1 | 7 tests |
| Charcot-Marie-Tooth disease type 4B2 | 7 tests |
| Charcot-Marie-Tooth disease type 4C | 7 tests |
| Charcot-Marie-Tooth disease type 4D | 7 tests |
| Charcot-Marie-Tooth disease type 4E | 4 tests |
| Charcot-Marie-Tooth disease type 4F | 7 tests |
| Charcot-Marie-Tooth disease type 4H | 7 tests |
| Charcot-Marie-Tooth disease type 4J | 9 tests |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 5 tests |
| Charcot-Marie-Tooth disease, type IA | 11 tests |
| Charlevoix-Saguenay spastic ataxia | 7 tests |
| Cholestanol storage disease | 2 tests |
| Chorea-acanthocytosis | 2 tests |
| Christianson syndrome | 3 tests |
| Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss | 2 tests |
| Cohen syndrome | 3 tests |
| Complex cortical dysplasia with other brain malformations 7 | 2 tests |
| Compton-North congenital myopathy | 1 test |
| Congenital adrenal hypoplasia, X-linked | 2 tests |
| Congenital bile acid synthesis defect 3 | 3 tests |
| Congenital generalized lipodystrophy type 2 | 3 tests |
| Congenital generalized lipodystrophy type 4 | 1 test |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 1 test |
| Congenital multicore myopathy with external ophthalmoplegia | 1 test |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 1 test |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | 1 test |
| Congenital muscular hypertrophy-cerebral syndrome | 2 tests |
| Congenital myasthenic syndrome 10 | 1 test |
| Congenital myasthenic syndrome 11 | 1 test |
| Congenital myasthenic syndrome 12 | 1 test |
| Congenital myasthenic syndrome 13 | 1 test |
| Congenital myasthenic syndrome 18 | 2 tests |
| Congenital myasthenic syndrome 2A | 1 test |
| Congenital myasthenic syndrome 3B | 1 test |
| Congenital myasthenic syndrome 4A | 1 test |
| Congenital myasthenic syndrome 4B | 1 test |
| Congenital myasthenic syndrome 4C | 1 test |
| Congenital myasthenic syndrome 5 | 1 test |
| Congenital myasthenic syndrome 8 | 1 test |
| Congenital myasthenic syndrome 9 | 1 test |
| Congenital myopathy 23 | 1 test |
| Congenital myopathy 4B, autosomal recessive | 1 test |
| Congenital myopathy with fiber type disproportion | 3 tests |
| Congenital myopathy with internal nuclei and atypical cores | 2 tests |
| Congenital myotonia, autosomal dominant form | 3 tests |
| Congenital myotonia, autosomal recessive form | 3 tests |
| Cornelia de Lange syndrome 1 | 2 tests |
| Cornelia de Lange syndrome 3 | 2 tests |
| Cortical dysplasia-focal epilepsy syndrome | 2 tests |
| Creatine transporter deficiency | 3 tests |
| Cutis laxa with osteodystrophy | 2 tests |
| DYRK1A-related intellectual disability syndrome | 2 tests |
| Deficiency of guanidinoacetate methyltransferase | 3 tests |
| Deficiency of steroid 11-beta-monooxygenase | 4 tests |
| Deficiency of steroid 17-alpha-monooxygenase | 1 test |
| Dentatorubral-pallidoluysian atrophy | 4 tests |
| Desmin-related myofibrillar myopathy | 4 tests |
| Developmental and epileptic encephalopathy 94 | 3 tests |
| Developmental and epileptic encephalopathy, 1 | 6 tests |
| Developmental and epileptic encephalopathy, 11 | 4 tests |
| Developmental and epileptic encephalopathy, 12 | 2 tests |
| Developmental and epileptic encephalopathy, 13 | 2 tests |
| Developmental and epileptic encephalopathy, 14 | 3 tests |
| Developmental and epileptic encephalopathy, 15 | 2 tests |
| Developmental and epileptic encephalopathy, 17 | 2 tests |
| Developmental and epileptic encephalopathy, 18 | 2 tests |
| Developmental and epileptic encephalopathy, 2 | 6 tests |
| Developmental and epileptic encephalopathy, 23 | 2 tests |
| Developmental and epileptic encephalopathy, 24 | 3 tests |
| Developmental and epileptic encephalopathy, 25 | 2 tests |
| Developmental and epileptic encephalopathy, 26 | 2 tests |
| Developmental and epileptic encephalopathy, 27 | 4 tests |
| Developmental and epileptic encephalopathy, 28 | 2 tests |
| 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 | 3 tests |
| Developmental and epileptic encephalopathy, 36 | 4 tests |
| Developmental and epileptic encephalopathy, 4 | 3 tests |
| Developmental and epileptic encephalopathy, 5 | 3 tests |
| Developmental and epileptic encephalopathy, 53 | 2 tests |
| Developmental and epileptic encephalopathy, 54 | 3 tests |
| Developmental and epileptic encephalopathy, 7 | 2 tests |
| Developmental and epileptic encephalopathy, 8 | 3 tests |
| Developmental and epileptic encephalopathy, 9 | 4 tests |
| DiGeorge syndrome | 2 tests |
| Diabetes insipidus, nephrogenic, X-linked | 2 tests |
| Diabetes insipidus, nephrogenic, autosomal | 2 tests |
| Diabetes mellitus, transient neonatal, 2 | 2 tests |
| Diabetes mellitus, transient neonatal, 3 | 2 tests |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 3 tests |
| Dihydropyrimidine dehydrogenase deficiency | 3 tests |
| Dilated cardiomyopathy 1C | 1 test |
| Dilated cardiomyopathy 1II | 1 test |
| Dilated cardiomyopathy 1S | 1 test |
| Distal myopathy with posterior leg and anterior hand involvement | 2 tests |
| Duchenne muscular dystrophy | 4 tests |
| Dystonia 5 | 3 tests |
| Dystonia 9 | 2 tests |
| EAST syndrome | 2 tests |
| Early myoclonic encephalopathy | 3 tests |
| Early-onset generalized limb-onset dystonia | 2 tests |
| Early-onset myopathy with fatal cardiomyopathy | 4 tests |
| Eichsfeld type congenital muscular dystrophy | 3 tests |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 4 tests |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2 tests |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 2 tests |
| Encephalopathy due to GLUT1 deficiency | 3 tests |
| Epilepsy | 3 tests |
| Epilepsy with myoclonic atonic seizures | 2 tests |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2 tests |
| Epilepsy, childhood absence, susceptibility to, 5 | 3 tests |
| Epilepsy, childhood absence, susceptibility to, 6 | 2 tests |
| Epilepsy, familial focal, with variable foci 1 | 2 tests |
| Epilepsy, familial temporal lobe, 1 | 3 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 7 | 3 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 5 tests |
| Epilepsy, progressive myoclonic, 1B | 2 tests |
| Epileptic encephalopathy | 5 tests |
| Episodic ataxia type 1 | 6 tests |
| Episodic ataxia type 5 | 4 tests |
| Episodic ataxia type 6 | 4 tests |
| FG syndrome 4 | 1 test |
| FOXG1 disorder | 4 tests |
| Facioscapulohumeral muscular dystrophy 2 | 1 test |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 tests |
| Familial encephalopathy with neuroserpin inclusion bodies | 2 tests |
| Familial hypocalciuric hypercalcemia 1 | 1 test |
| Familial hypokalemia-hypomagnesemia | 2 tests |
| Familial infantile myasthenia | 1 test |
| Familial infantile myoclonic epilepsy | 2 tests |
| Familial isolated deficiency of vitamin E | 4 tests |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 test |
| Familial medullary thyroid carcinoma | 2 tests |
| Familial sleep-related hypermotor epilepsy | 2 tests |
| Familial temporal lobe epilepsy 5 | 2 tests |
| Fatal infantile hypertonic myofibrillar myopathy | 2 tests |
| Febrile seizures, familial, 11 | 2 tests |
| Febrile seizures, familial, 4 | 2 tests |
| Febrile seizures, familial, 8 | 3 tests |
| Finnish congenital nephrotic syndrome | 2 tests |
| Focal epilepsy | 2 tests |
| Focal segmental glomerulosclerosis 1 | 2 tests |
| Focal segmental glomerulosclerosis 2 | 2 tests |
| Focal segmental glomerulosclerosis 5 | 2 tests |
| Friedreich ataxia 1 | 5 tests |
| Frontotemporal dementia | 2 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 4 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 2 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 2 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 2 tests |
| GM3 synthase deficiency | 3 tests |
| GNE myopathy | 1 test |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 2 tests |
| Gamma-aminobutyric acid transaminase deficiency | 3 tests |
| Generalized epilepsy with febrile seizures plus, type 1 | 3 tests |
| Generalized epilepsy with febrile seizures plus, type 2 | 5 tests |
| Generalized epilepsy with febrile seizures plus, type 7 | 2 tests |
| Generalized epilepsy with febrile seizures plus, type 9 | 2 tests |
| Gillespie syndrome | 3 tests |
| Glaucoma, normal tension, susceptibility to | 1 test |
| Glucocorticoid-remediable aldosteronism | 1 test |
| Glycine encephalopathy | 3 tests |
| Goldberg-Shprintzen syndrome | 2 tests |
| Gonadotropin-independent familial sexual precocity | 1 test |
| HSD10 mitochondrial disease | 2 tests |
| Hereditary insensitivity to pain with anhidrosis | 2 tests |
| Hereditary sensory and autonomic neuropathy type 1 | 2 tests |
| Hereditary spastic paraplegia 10 | 4 tests |
| Hereditary spastic paraplegia 11 | 5 tests |
| Hereditary spastic paraplegia 12 | 4 tests |
| Hereditary spastic paraplegia 13 | 4 tests |
| Hereditary spastic paraplegia 15 | 5 tests |
| Hereditary spastic paraplegia 17 | 4 tests |
| Hereditary spastic paraplegia 2 | 3 tests |
| Hereditary spastic paraplegia 30 | 4 tests |
| Hereditary spastic paraplegia 31 | 4 tests |
| Hereditary spastic paraplegia 35 | 4 tests |
| Hereditary spastic paraplegia 39 | 4 tests |
| Hereditary spastic paraplegia 3A | 5 tests |
| Hereditary spastic paraplegia 4 | 5 tests |
| Hereditary spastic paraplegia 42 | 4 tests |
| Hereditary spastic paraplegia 48 | 4 tests |
| Hereditary spastic paraplegia 5A | 4 tests |
| Hereditary spastic paraplegia 6 | 4 tests |
| Hereditary spastic paraplegia 7 | 5 tests |
| Hereditary spastic paraplegia 8 | 4 tests |
| Heterotopia, periventricular, X-linked dominant | 2 tests |
| Holoprosencephaly 2 | 2 tests |
| Holoprosencephaly 3 | 2 tests |
| Huntington disease | 2 tests |
| Huppke-Brendel syndrome | 3 tests |
| Hyperinsulinemic hypoglycemia, familial, 1 | 2 tests |
| Hyperinsulinemic hypoglycemia, familial, 2 | 2 tests |
| Hyperinsulinism due to glucokinase deficiency | 2 tests |
| Hyperinsulinism-hyperammonemia syndrome | 2 tests |
| Hyperphosphatasia with intellectual disability syndrome 1 | 2 tests |
| Hyperphosphatasia with intellectual disability syndrome 2 | 2 tests |
| Hypertrophic cardiomyopathy 1 | 1 test |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 12 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 2 tests |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 3 tests |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 4 tests |
| Hypokalemic periodic paralysis, type 1 | 1 test |
| Hypokalemic periodic paralysis, type 2 | 4 tests |
| Hypomyelinating leukodystrophy 2 | 1 test |
| Hypomyelinating leukodystrophy 4 | 3 tests |
| Idiopathic generalized epilepsy | 1 test |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 2 tests |
| Infantile hypophosphatasia | 2 tests |
| Infantile neuroaxonal dystrophy | 2 tests |
| Infantile onset spinocerebellar ataxia | 2 tests |
| Infantile spasms | 2 tests |
| Infantile-onset X-linked spinal muscular atrophy | 2 tests |
| Intellectual disability, X-linked 1 | 2 tests |
| Intellectual disability, X-linked 30 | 2 tests |
| Intellectual disability, X-linked 72 | 2 tests |
| Intellectual disability, X-linked 96 | 2 tests |
| Intellectual disability, X-linked, with or without seizures, ARX-related | 2 tests |
| Intellectual disability, autosomal dominant 1 | 2 tests |
| Intellectual disability, autosomal dominant 24 | 3 tests |
| Intellectual disability, autosomal dominant 5 | 4 tests |
| Intellectual disability, autosomal dominant 9 | 3 tests |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 3 tests |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2 tests |
| Isolated focal cortical dysplasia type II | 4 tests |
| Isolated growth hormone deficiency type IB | 3 tests |
| Joubert syndrome 2 | 2 tests |
| Joubert syndrome 3 | 2 tests |
| Joubert syndrome 5 | 2 tests |
| Joubert syndrome 6 | 2 tests |
| Joubert syndrome 9 | 2 tests |
| Joubert syndrome with renal defect | 1 test |
| KBG syndrome | 2 tests |
| Kabuki syndrome 1 | 1 test |
| Kennedy disease | 1 test |
| Keratosis follicularis | 2 tests |
| Koolen-de Vries syndrome | 2 tests |
| Kufor-Rakeb syndrome | 2 tests |
| Kugelberg-Welander disease | 4 tests |
| L-2-hydroxyglutaric aciduria | 2 tests |
| LAMB2-related infantile-onset nephrotic syndrome | 2 tests |
| Lafora disease | 2 tests |
| Landau-Kleffner syndrome | 4 tests |
| Laurence-Moon syndrome | 3 tests |
| Lesch-Nyhan syndrome | 2 tests |
| Leucine-induced hypoglycemia | 2 tests |
| Liddle syndrome 1 | 5 tests |
| Lipoic acid synthetase deficiency | 3 tests |
| Lissencephaly 4 | 2 tests |
| Lissencephaly due to LIS1 mutation | 2 tests |
| Lissencephaly due to TUBA1A mutation | 2 tests |
| Lissencephaly type 1 due to doublecortin gene mutation | 3 tests |
| Long QT syndrome 2 | 2 tests |
| Luscan-Lumish syndrome | 2 tests |
| MASA syndrome | 3 tests |
| MEGF10-related myopathy | 1 test |
| MYH7-related skeletal myopathy | 1 test |
| Macrocephaly-autism syndrome | 1 test |
| Malignant hyperthermia, susceptibility to, 1 | 1 test |
| Malignant hyperthermia, susceptibility to, 5 | 1 test |
| Marinesco-Sjögren syndrome | 3 tests |
| Mast syndrome | 4 tests |
| Maturity-onset diabetes of the young type 1 | 3 tests |
| Maturity-onset diabetes of the young type 2 | 5 tests |
| Maturity-onset diabetes of the young type 3 | 5 tests |
| Maturity-onset diabetes of the young type 4 | 2 tests |
| Maturity-onset diabetes of the young type 8 | 1 test |
| Megaconial type congenital muscular dystrophy | 1 test |
| Merosin deficient congenital muscular dystrophy | 3 tests |
| Metachromatic leukodystrophy | 1 test |
| Microcephaly 1, primary, autosomal recessive | 4 tests |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 4 tests |
| Microcephaly 5, primary, autosomal recessive | 5 tests |
| Microcephaly 6, primary, autosomal recessive | 2 tests |
| Microcephaly 7, primary, autosomal recessive | 2 tests |
| Microcephaly, seizures, and developmental delay | 2 tests |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 2 tests |
| Migraine, familial hemiplegic, 1 | 9 tests |
| Migraine, familial hemiplegic, 2 | 4 tests |
| Migraine, familial hemiplegic, 3 | 4 tests |
| Mitochondrial DNA depletion syndrome 1 | 1 test |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 1 test |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 2 tests |
| Mitochondrial DNA depletion syndrome 4b | 3 tests |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 2 tests |
| Mitochondrial DNA depletion syndrome 8a | 2 tests |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 2 tests |
| Mitochondrial DNA depletion syndrome, myopathic form | 2 tests |
| Mitochondrial complex I deficiency | 2 tests |
| Miyoshi muscular dystrophy 1 | 3 tests |
| Miyoshi muscular dystrophy 3 | 2 tests |
| Mowat-Wilson syndrome | 2 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 3 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 3 tests |
| Multiple endocrine neoplasia type 2A | 2 tests |
| Multiple endocrine neoplasia type 2B | 2 tests |
| Multiple endocrine neoplasia, type 1 | 1 test |
| Muscle eye brain disease | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 4 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 6 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 3 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, 8 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2 tests |
| Muscular dystrophy-dystroglycanopathy type B5 | 4 tests |
| Muscular dystrophy-dystroglycanopathy type B6 | 1 test |
| Myasthenic syndrome, congenital, 1B, fast-channel | 1 test |
| Myoclonic dystonia 11 | 2 tests |
| Myofibrillar myopathy 2 | 2 tests |
| Myofibrillar myopathy 3 | 4 tests |
| Myofibrillar myopathy 4 | 2 tests |
| Myofibrillar myopathy 5 | 2 tests |
| Myofibrillar myopathy 6 | 1 test |
| Myopathy, centronuclear, 2 | 1 test |
| Myopathy, myofibrillar, 9, with early respiratory failure | 4 tests |
| Myopathy, myosin storage, autosomal recessive | 2 tests |
| Myopathy, proximal, and ophthalmoplegia | 1 test |
| Myopathy, reducing body, X-linked, childhood-onset | 3 tests |
| Myopathy, reducing body, X-linked, early-onset, severe | 3 tests |
| Myosin storage myopathy | 2 tests |
| Myotonia fluctuans | 2 tests |
| Myotonic dystrophy type 2 | 2 tests |
| NDE1-related microhydranencephaly | 2 tests |
| 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 |
| Neonatal-onset encephalopathy with rigidity and seizures | 3 tests |
| Nephronophthisis 1 | 1 test |
| Nephrotic syndrome 15 | 2 tests |
| Nephrotic syndrome, type 2 | 3 tests |
| Nephrotic syndrome, type 3 | 2 tests |
| Nephrotic syndrome, type 4 | 2 tests |
| Neurodegeneration with brain iron accumulation 5 | 3 tests |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 3 tests |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 2 tests |
| Neurofibromatosis, type 1 | 3 tests |
| Neurofibromatosis, type 2 | 3 tests |
| Neuronal ceroid lipofuscinosis 1 | 2 tests |
| Neuronal ceroid lipofuscinosis 10 | 2 tests |
| Neuronal ceroid lipofuscinosis 11 | 2 tests |
| Neuronal ceroid lipofuscinosis 13 | 2 tests |
| Neuronal ceroid lipofuscinosis 2 | 2 tests |
| Neuronal ceroid lipofuscinosis 3 | 2 tests |
| Neuronal ceroid lipofuscinosis 5 | 2 tests |
| Neuronal ceroid lipofuscinosis 7 | 2 tests |
| Neuronal ceroid lipofuscinosis 8 | 2 tests |
| Neuronopathy, distal hereditary motor, type 2C | 1 test |
| Neuronopathy, distal hereditary motor, type 5A | 3 tests |
| Neuronopathy, distal hereditary motor, type 5B | 3 tests |
| Neuronopathy, distal hereditary motor, type 7B | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 1C | 2 tests |
| Neuropathy, hereditary sensory and autonomic, type 2A | 2 tests |
| Neuropathy, hereditary sensory, type 1D | 1 test |
| Neuropathy, hereditary sensory, type 2C | 3 tests |
| Noonan syndrome 1 | 1 test |
| Noonan syndrome 3 | 2 tests |
| Noonan syndrome 4 | 2 tests |
| Noonan syndrome 5 | 2 tests |
| Norman-Roberts syndrome | 2 tests |
| Obesity | 2 tests |
| Obesity due to leptin receptor gene deficiency | 2 tests |
| Oculopharyngeal muscular dystrophy | 1 test |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 test |
| Orofaciodigital syndrome I | 2 tests |
| Osteogenesis imperfecta type I | 2 tests |
| Osteogenesis imperfecta type III | 3 tests |
| Osteogenesis imperfecta with normal sclerae, dominant form | 3 tests |
| Osteogenesis imperfecta, perinatal lethal | 3 tests |
| Osteoporosis with pseudoglioma | 1 test |
| PHGDH deficiency | 2 tests |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 3 tests |
| Paget disease of bone 3 | 1 test |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 test |
| Partington syndrome | 2 tests |
| Pelger-Huët anomaly | 2 tests |
| Pelizaeus-Merzbacher disease | 5 tests |
| Periventricular heterotopia with microcephaly, autosomal recessive | 2 tests |
| Permanent neonatal diabetes mellitus | 7 tests |
| Peroxisome biogenesis disorder 9B | 2 tests |
| Perry syndrome | 1 test |
| Phelan-McDermid syndrome | 1 test |
| Pheochromocytoma | 3 tests |
| Pierpont syndrome | 2 tests |
| Pigmentary pallidal degeneration | 2 tests |
| Pitt-Hopkins syndrome | 2 tests |
| Pitt-Hopkins-like syndrome 2 | 2 tests |
| Pituitary hormone deficiency, combined, 1 | 2 tests |
| Pituitary hormone deficiency, combined, 2 | 2 tests |
| Polycystic kidney disease 2 | 5 tests |
| Polycystic kidney disease, adult type | 5 tests |
| Polyglandular autoimmune syndrome, type 1 | 2 tests |
| Polymicrogyria with optic nerve hypoplasia | 2 tests |
| Pontocerebellar hypoplasia type 1A | 1 test |
| Pontocerebellar hypoplasia type 2A | 2 tests |
| Pontocerebellar hypoplasia type 4 | 2 tests |
| Posterior column ataxia-retinitis pigmentosa syndrome | 3 tests |
| Postmenopausal osteoporosis | 1 test |
| Potassium-aggravated myotonia | 3 tests |
| Primary open angle glaucoma | 1 test |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 4 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 3 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 2 tests |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 3 tests |
| Progressive myoclonic epilepsy type 3 | 3 tests |
| Progressive myoclonic epilepsy type 6 | 2 tests |
| Progressive myoclonic epilepsy type 7 | 2 tests |
| Progressive myoclonic epilepsy type 9 | 2 tests |
| Progressive sclerosing poliodystrophy | 4 tests |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 6 tests |
| Pyridoxal phosphate-responsive seizures | 3 tests |
| Pyridoxine-dependent epilepsy | 2 tests |
| Pyruvate dehydrogenase complex deficiency | 1 test |
| Renal cysts and diabetes syndrome | 4 tests |
| Renpenning syndrome | 3 tests |
| Rett syndrome | 2 tests |
| Rippling muscle disease 2 | 5 tests |
| Ritscher-Schinzel syndrome 1 | 3 tests |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 3 tests |
| SHOX-related short stature | 2 tests |
| SLC35A2-congenital disorder of glycosylation | 5 tests |
| SMARCB1-related schwannomatosis | 3 tests |
| Sarcotubular myopathy | 3 tests |
| Schinzel-Giedion syndrome | 2 tests |
| Schizencephaly | 2 tests |
| Schwartz-Jampel syndrome | 1 test |
| Seizure | 2 tests |
| Seizures, benign familial infantile, 2 | 4 tests |
| Seizures, benign familial neonatal, 2 | 2 tests |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 10 tests |
| Severe X-linked myotubular myopathy | 1 test |
| Severe myoclonic epilepsy in infancy | 2 tests |
| Severe neonatal-onset encephalopathy with microcephaly | 4 tests |
| Severe neurodegenerative syndrome with lipodystrophy | 3 tests |
| Short stature due to partial GHR deficiency | 1 test |
| Simpson-Golabi-Behmel syndrome type 1 | 2 tests |
| Slow-Channel Congenital Myasthenia Syndrome | 1 test |
| Smith-Lemli-Opitz syndrome | 1 test |
| Smith-Magenis syndrome | 2 tests |
| Spastic ataxia 1 | 3 tests |
| Spastic ataxia 4 | 3 tests |
| Spastic ataxia 5 | 4 tests |
| Spinal muscular atrophy, type II | 4 tests |
| Spinal muscular atrophy, type IV | 4 tests |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 tests |
| Spinocerebellar ataxia 7 | 4 tests |
| Spinocerebellar ataxia type 1 | 4 tests |
| Spinocerebellar ataxia type 10 | 4 tests |
| Spinocerebellar ataxia type 11 | 3 tests |
| Spinocerebellar ataxia type 12 | 3 tests |
| Spinocerebellar ataxia type 13 | 3 tests |
| Spinocerebellar ataxia type 14 | 3 tests |
| Spinocerebellar ataxia type 15/16 | 3 tests |
| Spinocerebellar ataxia type 17 | 4 tests |
| Spinocerebellar ataxia type 19/22 | 3 tests |
| Spinocerebellar ataxia type 2 | 4 tests |
| Spinocerebellar ataxia type 23 | 3 tests |
| Spinocerebellar ataxia type 26 | 3 tests |
| Spinocerebellar ataxia type 27 | 3 tests |
| Spinocerebellar ataxia type 28 | 5 tests |
| Spinocerebellar ataxia type 29 | 3 tests |
| Spinocerebellar ataxia type 35 | 3 tests |
| Spinocerebellar ataxia type 5 | 3 tests |
| Spinocerebellar ataxia type 6 | 1 test |
| Spinocerebellar ataxia type 8 | 4 tests |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy | 3 tests |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 5 tests |
| Steinert myotonic dystrophy syndrome | 3 tests |
| Syndromic X-linked intellectual disability 94 | 2 tests |
| Syndromic X-linked intellectual disability Claes-Jensen type | 2 tests |
| Syndromic X-linked intellectual disability Hedera type | 2 tests |
| Syndromic X-linked intellectual disability Snyder type | 2 tests |
| Tibial muscular dystrophy | 4 tests |
| Torsion dystonia 6 | 2 tests |
| Tremor, hereditary essential, 4 | 1 test |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 3 tests |
| Troyer syndrome | 4 tests |
| Tuberous sclerosis 1 | 3 tests |
| Tuberous sclerosis 2 | 7 tests |
| Type 2 diabetes mellitus | 7 tests |
| Ullrich congenital muscular dystrophy 1A | 1 test |
| Unverricht-Lundborg syndrome | 2 tests |
| Vanishing white matter disease | 6 tests |
| Von Hippel-Lindau syndrome | 2 tests |
| Warburg micro syndrome 1 | 2 tests |
| Welander distal myopathy | 1 test |
| Werdnig-Hoffmann disease | 4 tests |
| West syndrome | 2 tests |
| X-linked Alport syndrome | 3 tests |
| X-linked Emery-Dreifuss muscular dystrophy | 2 tests |
| X-linked complicated corpus callosum dysgenesis | 3 tests |
| X-linked hydrocephalus syndrome | 3 tests |
| X-linked intellectual disability Cabezas type | 2 tests |
| X-linked intellectual disability, Cantagrel type | 2 tests |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 2 tests |
| X-linked lissencephaly with abnormal genitalia | 3 tests |
| X-linked myopathy with postural muscle atrophy | 4 tests |