Al Jalila Children’s Genomics Center (Al Jalila Childrens Speciality Hospital)
General information
Personnel
- Ahmad Tayoun, Lab Director
Phone: +971 4 281 1837
Email: ahmad.tayoun@ajch.ae
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1127
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 2 | Dec 17, 2022 |
| AARS1 | 1 | Dec 17, 2022 |
| ABCA2 | 1 | Oct 4, 2021 |
| ABCA4 | 2 | Dec 17, 2022 |
| ABCB11 | 2 | Oct 4, 2021 |
| ABCB6 | 1 | Oct 4, 2021 |
| ABCG2 | 2 | Dec 17, 2022 |
| ABCG8 | 1 | Dec 17, 2022 |
| ACO2 | 1 | Dec 17, 2022 |
| ACOX2 | 1 | Oct 4, 2021 |
| ACP5 | 1 | Oct 4, 2021 |
| ADAM17 | 1 | Oct 4, 2021 |
| ADAMTSL1 | 1 | Oct 4, 2021 |
| ADAMTSL4 | 1 | Oct 4, 2021 |
| ADGRE2 | 2 | Oct 4, 2021 |
| ADGRV1 | 5 | Oct 4, 2021 |
| ADNP | 1 | Oct 4, 2021 |
| AFG2A | 1 | Oct 4, 2021 |
| AGBL2 | 1 | Oct 4, 2021 |
| AGBL5 | 1 | Oct 4, 2021 |
| AGMO | 1 | Oct 4, 2021 |
| AGXT | 1 | Dec 17, 2022 |
| AHDC1 | 1 | Oct 4, 2021 |
| AHI1 | 1 | Oct 4, 2021 |
| AIRE | 2 | Dec 17, 2022 |
| AKAP9 | 1 | Oct 4, 2021 |
| ALDH18A1 | 1 | Oct 4, 2021 |
| ALDH7A1 | 2 | Dec 17, 2022 |
| ALG13 | 1 | Oct 4, 2021 |
| ALG9 | 1 | Oct 4, 2021 |
| ALMS1 | 1 | Oct 4, 2021 |
| ALOX12B | 1 | Oct 4, 2021 |
| ALPI | 1 | Dec 17, 2022 |
| AMPD1 | 2 | Oct 4, 2021 |
| ANK3 | 1 | Oct 4, 2021 |
| ANKRD11 | 1 | Dec 17, 2022 |
| ANKRD26 | 1 | Oct 4, 2021 |
| ANKRD37 | 1 | Dec 17, 2022 |
| ANO5 | 1 | Dec 17, 2022 |
| AOX1 | 1 | Oct 4, 2021 |
| AP1S3 | 2 | Oct 4, 2021 |
| AP4B1 | 1 | Oct 4, 2021 |
| AP4B1-AS1 | 1 | Oct 4, 2021 |
| APC | 1 | Oct 4, 2021 |
| APOL1 | 1 | Oct 4, 2021 |
| ARAP3 | 1 | Oct 4, 2021 |
| ARHGEF10 | 1 | Oct 4, 2021 |
| ARHGEF18 | 1 | Oct 4, 2021 |
| ARHGEF9 | 1 | Oct 4, 2021 |
| ARID1B | 2 | Dec 17, 2022 |
| ARID2 | 1 | Oct 4, 2021 |
| ARPC1B | 1 | Oct 4, 2021 |
| ARSA | 1 | Oct 4, 2021 |
| ARSB | 2 | Oct 4, 2021 |
| ASPN | 1 | Oct 4, 2021 |
| ASXL3 | 2 | Oct 4, 2021 |
| ATAD3A | 1 | Oct 4, 2021 |
| ATIC | 1 | Oct 4, 2021 |
| ATM | 4 | Dec 17, 2022 |
| ATN1 | 1 | Oct 4, 2021 |
| ATP13A2 | 1 | Oct 4, 2021 |
| ATP1A2 | 1 | Dec 17, 2022 |
| ATP1A3 | 2 | Dec 17, 2022 |
| ATP8A2 | 1 | Oct 4, 2021 |
| ATP8B1 | 4 | Dec 17, 2022 |
| ATP8B1-AS1 | 2 | Dec 17, 2022 |
| ATXN2 | 1 | Oct 4, 2021 |
| ATXN7 | 1 | Dec 17, 2022 |
| AVIL | 1 | Dec 17, 2022 |
| AVPR2 | 1 | Oct 4, 2021 |
| BBS10 | 1 | Dec 17, 2022 |
| BCR | 1 | Oct 4, 2021 |
| BFSP1 | 1 | Oct 4, 2021 |
| BIRC6 | 1 | Dec 17, 2022 |
| BLTP1 | 2 | Oct 4, 2021 |
| BPTF | 1 | Oct 4, 2021 |
| BTD | 2 | Dec 17, 2022 |
| C11orf65 | 2 | Dec 17, 2022 |
| C2CD3 | 1 | Oct 4, 2021 |
| C3 | 2 | Dec 17, 2022 |
| C4B | 1 | Nov 16, 2020 |
| C9 | 1 | Oct 4, 2021 |
| CACNA1A | 1 | Oct 4, 2021 |
| CACNA1C | 2 | Dec 17, 2022 |
| CACNA1D | 2 | Dec 17, 2022 |
| CACNA1S | 1 | Oct 4, 2021 |
| CAPN3 | 2 | Dec 17, 2022 |
| CARMIL2 | 1 | Dec 17, 2022 |
| CASK | 1 | Dec 17, 2022 |
| CASP10 | 1 | Oct 4, 2021 |
| CASQ2 | 2 | Oct 4, 2021 |
| CAV1 | 1 | Oct 4, 2021 |
| CC2D2A | 3 | Dec 17, 2022 |
| CCDC40 | 1 | Oct 4, 2021 |
| CCDC88C | 1 | Oct 4, 2021 |
| CCDST | 2 | Oct 4, 2021 |
| CCN6 | 1 | Nov 16, 2020 |
| CCNO | 3 | Dec 17, 2022 |
| CD163 | 1 | Nov 15, 2021 |
| CD247 | 2 | Dec 17, 2022 |
| CD2AP | 1 | Dec 17, 2022 |
| CD2BP2-DT | 1 | Oct 4, 2021 |
| CD36 | 2 | Oct 4, 2021 |
| CD3D | 1 | Dec 17, 2022 |
| CD40LG | 1 | Dec 17, 2022 |
| CD84 | 1 | Nov 15, 2021 |
| CDH3 | 1 | Dec 17, 2022 |
| CDHR1 | 1 | Oct 4, 2021 |
| CDK10 | 1 | Oct 4, 2021 |
| CDKL5 | 1 | Dec 17, 2022 |
| CDKN1C | 2 | Dec 17, 2022 |
| CEL | 2 | Dec 17, 2022 |
| CENPP | 1 | Oct 4, 2021 |
| CEP104 | 2 | Oct 4, 2021 |
| CEP120 | 1 | Oct 4, 2021 |
| CEP164 | 1 | Oct 4, 2021 |
| CEP19 | 1 | Oct 4, 2021 |
| CERS1 | 1 | Oct 4, 2021 |
| CFH | 1 | Oct 4, 2021 |
| CFHR5 | 1 | Oct 4, 2021 |
| CFL2 | 1 | Oct 4, 2021 |
| CFTR | 9 | Dec 17, 2022 |
| CFTR-AS1 | 3 | Dec 17, 2022 |
| CHAT | 1 | Oct 4, 2021 |
| CHD3 | 1 | Oct 4, 2021 |
| CHD7 | 3 | Dec 17, 2022 |
| CHIT1 | 1 | Oct 4, 2021 |
| CHRNA1 | 1 | Dec 17, 2022 |
| CHRNA4 | 2 | Dec 17, 2022 |
| CHRNA7 | 1 | Oct 4, 2021 |
| CHRND | 1 | Oct 4, 2021 |
| CHRNE | 1 | Dec 17, 2022 |
| CIC | 1 | Oct 4, 2021 |
| CLDN14 | 2 | Dec 17, 2022 |
| CLDN14-AS1 | 2 | Dec 17, 2022 |
| CLDN16 | 1 | Oct 4, 2021 |
| CLN6 | 1 | Oct 4, 2021 |
| CLN8 | 1 | Oct 4, 2021 |
| CLRN1 | 1 | Oct 4, 2021 |
| COL11A1 | 1 | Oct 4, 2021 |
| COL11A2 | 2 | Oct 4, 2021 |
| COL1A2 | 1 | Dec 17, 2022 |
| COL4A1 | 1 | Oct 4, 2021 |
| COL4A3 | 3 | Dec 17, 2022 |
| COL4A6 | 1 | Oct 4, 2021 |
| COL5A1 | 1 | Oct 4, 2021 |
| COL6A1 | 2 | Oct 4, 2021 |
| COL6A2 | 2 | Dec 17, 2022 |
| COL6A3 | 7 | Dec 17, 2022 |
| COL7A1 | 1 | Oct 4, 2021 |
| COL9A2 | 1 | Oct 4, 2021 |
| COPA | 1 | Oct 4, 2021 |
| COQ6 | 1 | Oct 4, 2021 |
| COQ8A | 2 | Oct 4, 2021 |
| COQ8B | 1 | Oct 4, 2021 |
| COQ9 | 1 | Oct 4, 2021 |
| CPLANE1 | 1 | Dec 17, 2022 |
| CPS1 | 3 | Dec 17, 2022 |
| CPT2 | 1 | Dec 17, 2022 |
| CRB1 | 2 | Oct 4, 2021 |
| CREBBP | 1 | Oct 4, 2021 |
| CRYBA4 | 1 | Oct 4, 2021 |
| CRYBB1 | 1 | Oct 4, 2021 |
| CSF3R | 1 | Dec 17, 2022 |
| CSPP1 | 2 | Oct 4, 2021 |
| CTNNA3 | 1 | Oct 4, 2021 |
| CTNS | 1 | Oct 4, 2021 |
| CTRC | 1 | Dec 17, 2022 |
| CWC27 | 1 | Oct 4, 2021 |
| CYBB | 1 | Dec 17, 2022 |
| CYP1B1 | 3 | Dec 17, 2022 |
| CYP21A2 | 3 | Dec 17, 2022 |
| CYP2B6 | 2 | Oct 4, 2021 |
| CYP4V2 | 1 | Oct 4, 2021 |
| DARS2 | 2 | Oct 4, 2021 |
| DCDC2 | 1 | Oct 4, 2021 |
| DCLRE1C | 1 | Oct 4, 2021 |
| DEPDC5 | 4 | Dec 17, 2022 |
| DGAT1 | 2 | Dec 17, 2022 |
| DHCR7 | 1 | Oct 4, 2021 |
| DHODH | 1 | Oct 4, 2021 |
| DIAPH1 | 1 | Oct 4, 2021 |
| DKC1 | 2 | Dec 17, 2022 |
| DLX6 | 1 | Oct 4, 2021 |
| DLX6-AS1 | 1 | Oct 4, 2021 |
| DMAC2L | 2 | Oct 4, 2021 |
| DMD | 3 | Dec 17, 2022 |
| DMGDH | 3 | Dec 17, 2022 |
| DMXL2 | 1 | Oct 4, 2021 |
| DNAH1 | 3 | Dec 17, 2022 |
| DNAH11 | 2 | Oct 4, 2021 |
| DNAH5 | 2 | Oct 4, 2021 |
| DNAJB2 | 1 | Dec 17, 2022 |
| DNASE1L3 | 1 | Dec 17, 2022 |
| DNHD1 | 1 | Oct 4, 2021 |
| DNM2 | 1 | Oct 4, 2021 |
| DOCK2 | 2 | Dec 17, 2022 |
| DOCK6 | 1 | Dec 17, 2022 |
| DOCK8 | 3 | Dec 17, 2022 |
| DOK1 | 1 | Dec 17, 2022 |
| DOK7 | 1 | Oct 4, 2021 |
| DSC2 | 2 | Oct 4, 2021 |
| DSE | 2 | Oct 4, 2021 |
| DST | 3 | Oct 4, 2021 |
| DUOX2 | 5 | Dec 17, 2022 |
| DYNC1H1 | 1 | Oct 4, 2021 |
| DYNC2H1 | 2 | Oct 4, 2021 |
| DYSF | 3 | Dec 17, 2022 |
| EDA | 1 | Dec 17, 2022 |
| EFL1 | 1 | Oct 4, 2021 |
| EHMT1 | 1 | Nov 16, 2020 |
| EIF2B2 | 1 | Oct 4, 2021 |
| ELMOD3 | 1 | Oct 4, 2021 |
| EMC10 | 1 | Dec 17, 2022 |
| ENPP1 | 2 | Oct 4, 2021 |
| EP300 | 1 | Oct 4, 2021 |
| EP400 | 1 | Oct 4, 2021 |
| EPB41L1 | 2 | Dec 17, 2022 |
| EPM2A | 1 | Dec 17, 2022 |
| EPM2A-DT | 1 | Dec 17, 2022 |
| EPS8 | 1 | Oct 4, 2021 |
| ERCC1 | 1 | Oct 4, 2021 |
| ERCC6 | 2 | Oct 4, 2021 |
| ESPN | 1 | Oct 4, 2021 |
| ETHE1 | 1 | Oct 4, 2021 |
| EVC2 | 1 | Oct 4, 2021 |
| EXOSC9 | 2 | Dec 17, 2022 |
| EXT1 | 2 | Dec 17, 2022 |
| EXT2 | 1 | Oct 4, 2021 |
| EYA1 | 2 | Dec 17, 2022 |
| EYS | 3 | Oct 4, 2021 |
| F2 | 1 | Dec 17, 2022 |
| F5 | 1 | Oct 4, 2021 |
| FAH | 1 | Dec 17, 2022 |
| FAM161B | 1 | Oct 4, 2021 |
| FANCA | 1 | Oct 4, 2021 |
| FANCC | 2 | Dec 17, 2022 |
| FANCD2 | 2 | Oct 4, 2021 |
| FAT2 | 2 | Dec 17, 2022 |
| FBN1 | 3 | Dec 17, 2022 |
| FBP2 | 1 | Oct 4, 2021 |
| FBXL4 | 1 | Oct 4, 2021 |
| FBXO22 | 2 | Dec 17, 2022 |
| FBXO7 | 1 | Oct 4, 2021 |
| FDFT1 | 1 | Oct 4, 2021 |
| FERMT1 | 1 | Oct 4, 2021 |
| FERRY3 | 1 | Oct 4, 2021 |
| FGA | 1 | Oct 4, 2021 |
| FGF12 | 2 | Dec 17, 2022 |
| FGFR1 | 2 | Oct 4, 2021 |
| FGFR2 | 2 | Oct 4, 2021 |
| FGFR3 | 3 | Dec 17, 2022 |
| FH | 1 | Oct 4, 2021 |
| FKBP10 | 1 | Dec 17, 2022 |
| FKRP | 1 | Oct 4, 2021 |
| FLG | 2 | Oct 4, 2021 |
| FLNA | 1 | Oct 4, 2021 |
| FLNB | 2 | Oct 4, 2021 |
| FLNC | 2 | Dec 17, 2022 |
| FN1 | 1 | Oct 4, 2021 |
| FOXC1 | 2 | Oct 4, 2021 |
| FOXE1 | 1 | Oct 4, 2021 |
| FOXG1 | 1 | Dec 17, 2022 |
| FOXP1 | 1 | Dec 17, 2022 |
| FOXP2 | 1 | Dec 17, 2022 |
| FRRS1L | 1 | Dec 17, 2022 |
| G6PC1 | 1 | Dec 17, 2022 |
| G6PD | 1 | Dec 17, 2022 |
| GAA | 1 | Dec 17, 2022 |
| GABBR2 | 1 | Oct 4, 2021 |
| GABRB2 | 2 | Dec 17, 2022 |
| GABRB3 | 1 | Dec 17, 2022 |
| GALE | 1 | Dec 17, 2022 |
| GALNS | 1 | Oct 4, 2021 |
| GALT | 1 | Dec 17, 2022 |
| GATA3 | 1 | Dec 17, 2022 |
| GATA4 | 1 | Oct 4, 2021 |
| GATAD1 | 1 | Oct 4, 2021 |
| GBE1 | 1 | Oct 4, 2021 |
| GBF1 | 1 | Oct 4, 2021 |
| GDF1 | 1 | Oct 4, 2021 |
| GFAP | 1 | Dec 17, 2022 |
| GH-LCR | 3 | Dec 17, 2022 |
| GHR | 1 | Dec 17, 2022 |
| GHSR | 1 | Dec 17, 2022 |
| GIGYF2 | 1 | Oct 4, 2021 |
| GIPC3 | 1 | Oct 4, 2021 |
| GJB2 | 5 | Dec 17, 2022 |
| GJB4 | 1 | Oct 4, 2021 |
| GLA | 1 | Oct 4, 2021 |
| GLB1 | 1 | Oct 4, 2021 |
| GLI3 | 1 | Oct 4, 2021 |
| GLMN | 1 | Dec 17, 2022 |
| GNAS | 1 | Nov 16, 2020 |
| GNAT1 | 1 | Oct 4, 2021 |
| GNE | 1 | Oct 4, 2021 |
| GNPTAB | 2 | Oct 4, 2021 |
| GPHN | 1 | Dec 17, 2022 |
| GPI | 1 | Oct 4, 2021 |
| GPIHBP1 | 1 | Oct 4, 2021 |
| GPR179 | 3 | Oct 4, 2021 |
| GPSM2 | 1 | Oct 4, 2021 |
| GRIN2A | 1 | Dec 17, 2022 |
| GRIN2B | 2 | Dec 17, 2022 |
| GTPBP3 | 1 | Oct 4, 2021 |
| GYG2 | 1 | Oct 4, 2021 |
| HACD1 | 1 | Oct 4, 2021 |
| HBB | 7 | Dec 17, 2022 |
| HECW2 | 1 | Dec 17, 2022 |
| HGSNAT | 1 | Oct 4, 2021 |
| HHAT | 1 | Oct 4, 2021 |
| HIVEP2 | 1 | Dec 17, 2022 |
| HNF1A | 1 | Dec 17, 2022 |
| HOXA11 | 1 | Dec 17, 2022 |
| HOXA3 | 1 | Oct 4, 2021 |
| HPS4 | 1 | Oct 4, 2021 |
| HSALR1 | 1 | Oct 4, 2021 |
| HSD11B2 | 1 | Dec 17, 2022 |
| HSD17B4 | 2 | Oct 4, 2021 |
| HSPG2 | 4 | Oct 4, 2021 |
| HTT | 1 | Oct 4, 2021 |
| HYDIN | 2 | Oct 4, 2021 |
| IDS | 2 | Oct 4, 2021 |
| IDUA | 2 | Oct 4, 2021 |
| IFI27L1 | 1 | Feb 2, 2023 |
| IFI44 | 3 | Feb 2, 2023 |
| IFI44L | 1 | Nov 15, 2021 |
| IFIH1 | 14 | Feb 2, 2023 |
| IFNA10 | 1 | Feb 2, 2023 |
| IFNA14 | 1 | Feb 2, 2023 |
| IFNA21 | 1 | Nov 15, 2021 |
| IFNA4 | 1 | Nov 15, 2021 |
| IFNA6 | 1 | Nov 15, 2021 |
| IFNAR1 | 2 | Feb 2, 2023 |
| IFNAR2 | 4 | Feb 2, 2023 |
| IFNAR2-IL10RB | 4 | Feb 2, 2023 |
| IFNB1 | 1 | Nov 15, 2021 |
| IFNGR2 | 2 | Feb 2, 2023 |
| IFNL2 | 1 | Feb 2, 2023 |
| IFRD2 | 1 | Oct 4, 2021 |
| IFT43 | 1 | Oct 4, 2021 |
| IGHMBP2 | 1 | Dec 17, 2022 |
| IKBKE | 2 | Dec 17, 2022 |
| IL17RB | 1 | Oct 4, 2021 |
| IL17RC | 1 | Oct 4, 2021 |
| IL1RN | 2 | Oct 4, 2021 |
| IL22RA2 | 1 | Nov 15, 2021 |
| IL6ST | 2 | Oct 4, 2021 |
| ILDR1 | 1 | Oct 4, 2021 |
| IMPDH1 | 1 | Dec 17, 2022 |
| INF2 | 1 | Oct 4, 2021 |
| INPPL1 | 1 | Dec 17, 2022 |
| INTS1 | 2 | Oct 4, 2021 |
| IQCB1 | 1 | Dec 17, 2022 |
| IRAK3 | 2 | Feb 2, 2023 |
| IRF3 | 1 | Nov 15, 2021 |
| IRF6 | 1 | Oct 4, 2021 |
| IRF7 | 1 | Oct 4, 2021 |
| ITGA7 | 1 | Oct 4, 2021 |
| JAG1 | 1 | Dec 17, 2022 |
| JMJD1C | 1 | Dec 17, 2022 |
| KANK1 | 1 | Oct 4, 2021 |
| KANSL1 | 1 | Oct 4, 2021 |
| KAT6A | 1 | Oct 4, 2021 |
| KCNB1 | 1 | Dec 17, 2022 |
| KCNC1 | 1 | Oct 4, 2021 |
| KCNJ10 | 1 | Oct 4, 2021 |
| KCNJ11 | 1 | Oct 4, 2021 |
| KCNMA1 | 1 | Oct 4, 2021 |
| KCNMA1-AS1 | 1 | Oct 4, 2021 |
| KCNQ1 | 1 | Oct 4, 2021 |
| KCNQ2 | 2 | Dec 17, 2022 |
| KIAA0586 | 1 | Oct 4, 2021 |
| KIF1C | 2 | Dec 17, 2022 |
| KIF7 | 2 | Oct 4, 2021 |
| KIRREL1 | 1 | Oct 4, 2021 |
| KLHL7 | 1 | Oct 4, 2021 |
| KMT2A | 1 | Dec 17, 2022 |
| KMT2C | 3 | Dec 17, 2022 |
| KRT18 | 1 | Oct 4, 2021 |
| KRT8 | 1 | Oct 4, 2021 |
| KRTAP10-12 | 1 | Oct 4, 2021 |
| KRTAP10-3 | 1 | Oct 4, 2021 |
| L2HGDH | 3 | Oct 4, 2021 |
| LAMA2 | 4 | Dec 17, 2022 |
| LAMB2 | 2 | Oct 4, 2021 |
| LAMB3 | 1 | Oct 4, 2021 |
| LAMC2 | 1 | Oct 4, 2021 |
| LAMC3 | 3 | Oct 4, 2021 |
| LAMP2 | 1 | Oct 4, 2021 |
| LARGE1 | 3 | Dec 17, 2022 |
| LARS2 | 4 | Oct 4, 2021 |
| LDB3 | 1 | Oct 4, 2021 |
| LDHAL6B | 1 | Oct 4, 2021 |
| LDLRAD2 | 1 | Oct 4, 2021 |
| LFNG | 1 | Oct 4, 2021 |
| LIPA | 1 | Oct 4, 2021 |
| LMNA | 2 | Dec 17, 2022 |
| LOC105371468 | 1 | Nov 15, 2021 |
| LOC105371566 | 2 | Oct 4, 2021 |
| LOC106029312 | 1 | Dec 17, 2022 |
| LOC106050102 | 2 | Oct 4, 2021 |
| LOC106096416 | 1 | Oct 4, 2021 |
| LOC106099062 | 7 | Dec 17, 2022 |
| LOC106780800 | 3 | Dec 17, 2022 |
| LOC107126281 | 1 | Dec 17, 2022 |
| LOC107133510 | 7 | Dec 17, 2022 |
| LOC107303338 | 2 | Oct 4, 2021 |
| LOC109461484 | 1 | Oct 4, 2021 |
| LOC109611589 | 1 | Oct 4, 2021 |
| LOC110006319 | 1 | Oct 4, 2021 |
| LOC111674472 | 1 | Oct 4, 2021 |
| LOC112533671 | 1 | Oct 4, 2021 |
| LOC112577486 | 1 | Oct 4, 2021 |
| LOC121725046 | 1 | Oct 4, 2021 |
| LOC121740638 | 2 | Dec 17, 2022 |
| LOC123522803 | 1 | Oct 4, 2021 |
| LOC123956272 | 2 | Oct 4, 2021 |
| LOC125467768 | 1 | Dec 17, 2022 |
| LOC126805612 | 2 | Dec 17, 2022 |
| LOC126805794 | 1 | Dec 17, 2022 |
| LOC126806426 | 1 | Oct 4, 2021 |
| LOC126859690 | 2 | Oct 4, 2021 |
| LOC126859837 | 1 | Oct 4, 2021 |
| LOC126862264 | 8 | Dec 17, 2022 |
| LOC126862447 | 1 | Oct 4, 2021 |
| LOC126862484 | 1 | Oct 4, 2021 |
| LOC126863145 | 1 | Oct 4, 2021 |
| LOC129929027 | 1 | Oct 4, 2021 |
| LOC129931083 | 1 | Oct 4, 2021 |
| LOC129936143 | 1 | Oct 4, 2021 |
| LOC129936788 | 1 | Oct 4, 2021 |
| LOC129937339 | 1 | Oct 4, 2021 |
| LOC129992296 | 1 | Oct 4, 2021 |
| LOC129993690 | 1 | Dec 17, 2022 |
| LOC129993895 | 3 | Dec 17, 2022 |
| LOC129994126 | 1 | Oct 4, 2021 |
| LOC129994526 | 1 | Dec 17, 2022 |
| LOC129995144 | 1 | Oct 4, 2021 |
| LOC129997034 | 1 | Oct 4, 2021 |
| LOC129997381 | 1 | Dec 17, 2022 |
| LOC129997928 | 1 | Oct 4, 2021 |
| LOC130005598 | 1 | Oct 4, 2021 |
| LOC130007700 | 1 | Oct 4, 2021 |
| LOC130008791 | 1 | Oct 4, 2021 |
| LOC130061370 | 1 | Oct 4, 2021 |
| LOC130062568 | 1 | Oct 4, 2021 |
| LOC130066299 | 1 | Oct 4, 2021 |
| LORICRIN | 1 | Dec 17, 2022 |
| LOXHD1 | 4 | Dec 17, 2022 |
| LOXL3 | 1 | Dec 17, 2022 |
| LPAR6 | 1 | Oct 4, 2021 |
| LPIN2 | 2 | Dec 17, 2022 |
| LRBA | 2 | Oct 4, 2021 |
| LRIT3 | 1 | Oct 4, 2021 |
| LRP4 | 1 | Dec 17, 2022 |
| LRP4-AS1 | 1 | Dec 17, 2022 |
| LRP5 | 2 | Oct 4, 2021 |
| LRP6 | 1 | Dec 17, 2022 |
| LRRC51 | 1 | Oct 4, 2021 |
| LRRK2 | 1 | Oct 4, 2021 |
| LRTOMT | 1 | Oct 4, 2021 |
| LTBP2 | 1 | Oct 4, 2021 |
| LTBP4 | 2 | Oct 4, 2021 |
| LY9 | 1 | Nov 15, 2021 |
| LYST | 4 | Feb 2, 2023 |
| MACF1 | 3 | Dec 17, 2022 |
| MALT1 | 1 | Oct 4, 2021 |
| MAN2B2 | 1 | Oct 4, 2021 |
| MAP2K2 | 1 | Dec 17, 2022 |
| MAPK1 | 1 | Dec 17, 2022 |
| MBD5 | 1 | Dec 17, 2022 |
| MBTPS1 | 1 | Oct 4, 2021 |
| MCIDAS | 1 | Dec 17, 2022 |
| MCOLN1 | 1 | Oct 4, 2021 |
| MECP2 | 1 | Oct 4, 2021 |
| MED13L | 1 | Oct 4, 2021 |
| MEFV | 15 | Dec 17, 2022 |
| METTL23 | 1 | Dec 17, 2022 |
| MFF-DT | 3 | Dec 17, 2022 |
| MICU1 | 1 | Dec 17, 2022 |
| MID2 | 1 | Oct 4, 2021 |
| MIPEP | 1 | Oct 4, 2021 |
| MIR6848 | 1 | Dec 17, 2022 |
| MLH1 | 1 | Oct 4, 2021 |
| MMACHC | 1 | Dec 17, 2022 |
| MMP2 | 1 | Oct 4, 2021 |
| MMP9 | 1 | Oct 4, 2021 |
| MMUT | 1 | Dec 17, 2022 |
| MPDZ | 1 | Oct 4, 2021 |
| MPL | 1 | Oct 4, 2021 |
| MPV17 | 1 | Dec 17, 2022 |
| MPZL2 | 1 | Oct 4, 2021 |
| MRE11 | 1 | Oct 4, 2021 |
| MSC-AS1 | 1 | Oct 4, 2021 |
| MSRB3 | 1 | Oct 4, 2021 |
| MTCL1 | 1 | Oct 4, 2021 |
| MVD | 1 | Oct 4, 2021 |
| MVK | 3 | Dec 17, 2022 |
| MVP-DT | 3 | Dec 17, 2022 |
| MYBPC2 | 1 | Oct 4, 2021 |
| MYBPC3 | 3 | Dec 17, 2022 |
| MYH14 | 1 | Oct 4, 2021 |
| MYH7B | 1 | Dec 17, 2022 |
| MYH9 | 1 | Oct 4, 2021 |
| MYLK | 1 | Dec 17, 2022 |
| MYO15A | 3 | Oct 4, 2021 |
| MYO1E | 1 | Oct 4, 2021 |
| MYO5A | 1 | Oct 4, 2021 |
| MYO5B | 1 | Oct 4, 2021 |
| MYO6 | 1 | Oct 4, 2021 |
| MYOCD | 1 | Oct 4, 2021 |
| NALCN | 2 | Oct 4, 2021 |
| NANS | 1 | Oct 4, 2021 |
| NARS2 | 1 | Oct 4, 2021 |
| NCF1 | 1 | Dec 17, 2022 |
| NCKAP1L | 1 | Dec 17, 2022 |
| NDUFB4 | 1 | Oct 4, 2021 |
| NEB | 5 | Dec 17, 2022 |
| NEDD4L | 2 | Oct 4, 2021 |
| NELL1 | 2 | Oct 4, 2021 |
| NF1 | 5 | Dec 17, 2022 |
| NFAT5 | 1 | Dec 17, 2022 |
| NFKB2 | 1 | Dec 17, 2022 |
| NGLY1 | 1 | Oct 4, 2021 |
| NKX2-1 | 1 | Oct 4, 2021 |
| NLRC4 | 1 | Oct 4, 2021 |
| NLRP1 | 3 | Oct 4, 2021 |
| NLRP12 | 5 | Dec 17, 2022 |
| NLRP2 | 1 | Nov 15, 2021 |
| NME3 | 1 | Oct 4, 2021 |
| NME8 | 1 | Oct 4, 2021 |
| NNT | 1 | Dec 17, 2022 |
| NOD2 | 4 | Dec 17, 2022 |
| NOTCH2 | 2 | Oct 4, 2021 |
| NPC1 | 5 | Oct 4, 2021 |
| NPHP1 | 1 | Oct 4, 2021 |
| NPHP4 | 1 | Oct 4, 2021 |
| NPHS1 | 3 | Dec 17, 2022 |
| NPHS2 | 1 | Oct 4, 2021 |
| NPR2 | 1 | Oct 4, 2021 |
| NRL | 2 | Dec 17, 2022 |
| NRXN1 | 2 | Dec 17, 2022 |
| NSD1 | 1 | Dec 17, 2022 |
| NUP93 | 1 | Oct 4, 2021 |
| NUTM2B | 2 | Oct 4, 2021 |
| NUTM2B-AS1 | 2 | Oct 4, 2021 |
| OFD1 | 1 | Dec 17, 2022 |
| OPA1 | 2 | Dec 17, 2022 |
| OPHN1 | 1 | Oct 4, 2021 |
| ORC1 | 2 | Oct 4, 2021 |
| OSBPL2 | 1 | Oct 4, 2021 |
| OTOA | 1 | Oct 4, 2021 |
| OTOF | 1 | Oct 4, 2021 |
| OTOG | 5 | Dec 17, 2022 |
| PACS2 | 2 | Dec 17, 2022 |
| PAH | 2 | Dec 17, 2022 |
| PARS2 | 2 | Dec 17, 2022 |
| PAX2 | 1 | Dec 17, 2022 |
| PCARE | 1 | Oct 4, 2021 |
| PCAT7 | 1 | Oct 4, 2021 |
| PCDH15 | 1 | Oct 4, 2021 |
| PCDH19 | 2 | Dec 17, 2022 |
| PCNT | 1 | Oct 4, 2021 |
| PDHA1 | 1 | Dec 17, 2022 |
| PDHX | 1 | Oct 4, 2021 |
| PDILT | 1 | Oct 4, 2021 |
| PDZD7 | 1 | Dec 17, 2022 |
| PEX1 | 2 | Oct 4, 2021 |
| PEX26 | 1 | Oct 4, 2021 |
| PEX6 | 2 | Oct 4, 2021 |
| PGBD3 | 1 | Oct 4, 2021 |
| PGK1 | 1 | Oct 4, 2021 |
| PGM3 | 1 | Dec 17, 2022 |
| PHF21A | 1 | Oct 4, 2021 |
| PHF3 | 1 | Oct 4, 2021 |
| PHKA1 | 1 | Oct 4, 2021 |
| PHKA2 | 1 | Oct 4, 2021 |
| PHKG2 | 1 | Oct 4, 2021 |
| PHYH | 1 | Oct 4, 2021 |
| PIEZO1 | 2 | Oct 4, 2021 |
| PIGT | 1 | Oct 4, 2021 |
| PIK3CD | 4 | Dec 17, 2022 |
| PITX3 | 1 | Oct 4, 2021 |
| PJVK | 1 | Dec 17, 2022 |
| PKD1L1 | 1 | Oct 4, 2021 |
| PKHD1 | 6 | Dec 17, 2022 |
| PKP2 | 1 | Oct 4, 2021 |
| PLCB1 | 1 | Oct 4, 2021 |
| PLCE1 | 1 | Dec 17, 2022 |
| PLCG2 | 2 | Dec 17, 2022 |
| PLEC | 6 | Oct 4, 2021 |
| PLOD1 | 1 | Oct 4, 2021 |
| PMM2 | 1 | Oct 4, 2021 |
| PMS2 | 1 | Dec 17, 2022 |
| PNKP | 1 | Oct 4, 2021 |
| PNPO | 3 | Dec 17, 2022 |
| POGZ | 1 | Oct 4, 2021 |
| POLD1 | 2 | Oct 4, 2021 |
| POLG | 2 | Dec 17, 2022 |
| POLGARF | 2 | Dec 17, 2022 |
| POMT1 | 1 | Dec 17, 2022 |
| PRDM5 | 1 | Oct 4, 2021 |
| PRG4 | 2 | Nov 16, 2020 |
| PRICKLE1 | 2 | Oct 4, 2021 |
| PRMT7 | 1 | Oct 4, 2021 |
| PRODH | 1 | Oct 4, 2021 |
| PRRT2 | 3 | Dec 17, 2022 |
| PRSS1 | 1 | Dec 17, 2022 |
| PRSS8 | 1 | Oct 4, 2021 |
| PSMB8 | 2 | Dec 17, 2022 |
| PTBP2 | 1 | Oct 4, 2021 |
| PTPN11 | 1 | Dec 17, 2022 |
| PTPN23 | 1 | Oct 4, 2021 |
| PTRH2 | 1 | Dec 17, 2022 |
| PYGM | 1 | Oct 4, 2021 |
| PYY | 1 | Oct 4, 2021 |
| RAB27A | 1 | Nov 15, 2021 |
| RAC1 | 1 | Oct 4, 2021 |
| RAC2 | 1 | Oct 4, 2021 |
| RAI1 | 1 | Dec 17, 2022 |
| RANGAP1 | 1 | Oct 4, 2021 |
| RARS1 | 1 | Oct 4, 2021 |
| RARS2 | 1 | Oct 4, 2021 |
| RB1 | 1 | Oct 4, 2021 |
| RBP3 | 1 | Dec 17, 2022 |
| RDH12 | 1 | Dec 17, 2022 |
| RDX | 1 | Oct 4, 2021 |
| RELN | 3 | Dec 17, 2022 |
| RET | 2 | Oct 4, 2021 |
| RHOBTB2 | 1 | Dec 17, 2022 |
| RIF1 | 1 | Dec 17, 2022 |
| RIT1 | 1 | Dec 17, 2022 |
| RLBP1 | 2 | Dec 17, 2022 |
| RNF13 | 1 | Dec 17, 2022 |
| ROR2 | 2 | Oct 4, 2021 |
| RP1L1 | 1 | Oct 4, 2021 |
| RPGRIP1 | 2 | Dec 17, 2022 |
| RPL36A-HNRNPH2 | 1 | Oct 4, 2021 |
| RRP8 | 1 | Oct 4, 2021 |
| RS1 | 3 | Dec 17, 2022 |
| RSPH3 | 1 | Oct 4, 2021 |
| RUNX2 | 2 | Oct 4, 2021 |
| RYR1 | 5 | Dec 17, 2022 |
| RYR2 | 2 | Oct 4, 2021 |
| RYR3 | 1 | Oct 4, 2021 |
| S100A6 | 1 | Oct 4, 2021 |
| S1PR2 | 1 | Oct 4, 2021 |
| SACS | 1 | Oct 4, 2021 |
| SALL1 | 3 | Oct 4, 2021 |
| SALL4 | 1 | Oct 4, 2021 |
| SAMD11 | 1 | Oct 4, 2021 |
| SAMD9 | 2 | Dec 17, 2022 |
| SAMHD1 | 1 | Oct 4, 2021 |
| SBF1 | 1 | Oct 4, 2021 |
| SCN10A | 1 | Dec 17, 2022 |
| SCN1A-AS1 | 1 | Oct 4, 2021 |
| SCN3A | 1 | Oct 4, 2021 |
| SCN4A | 3 | Dec 17, 2022 |
| SCN5A | 1 | Oct 4, 2021 |
| SCN8A | 1 | Dec 17, 2022 |
| SCN9A | 1 | Oct 4, 2021 |
| SCNN1A | 1 | Dec 17, 2022 |
| SCRIB | 1 | Oct 4, 2021 |
| SDHA | 1 | Oct 4, 2021 |
| SELENON | 1 | Oct 4, 2021 |
| SERPINA1 | 1 | Oct 4, 2021 |
| SERPINA3 | 1 | Oct 4, 2021 |
| SERPINA6 | 1 | Oct 4, 2021 |
| SERPINB6 | 1 | Oct 4, 2021 |
| SERPINC1 | 1 | Oct 4, 2021 |
| SETD2 | 1 | Oct 4, 2021 |
| SETD5 | 1 | Oct 4, 2021 |
| SETX | 3 | Dec 17, 2022 |
| SFTA3 | 1 | Oct 4, 2021 |
| SFTPB | 1 | Dec 17, 2022 |
| SGCA | 1 | Oct 4, 2021 |
| SGCB | 2 | Dec 17, 2022 |
| SH3BP2 | 1 | Oct 4, 2021 |
| SH3PXD2B | 1 | Oct 4, 2021 |
| SH3TC2 | 1 | Oct 4, 2021 |
| SHOC2 | 1 | Oct 4, 2021 |
| SHROOM3 | 1 | Oct 4, 2021 |
| SHROOM3-AS1 | 1 | Oct 4, 2021 |
| SIGMAR1 | 1 | Dec 17, 2022 |
| SIK1 | 2 | Dec 17, 2022 |
| SIN3A | 1 | Oct 4, 2021 |
| SIX1 | 1 | Oct 4, 2021 |
| SKIC2 | 1 | Oct 4, 2021 |
| SKIC3 | 2 | Oct 4, 2021 |
| SLC12A2 | 1 | Dec 17, 2022 |
| SLC12A3 | 3 | Dec 17, 2022 |
| SLC13A5 | 1 | Oct 4, 2021 |
| SLC22A12 | 1 | Oct 4, 2021 |
| SLC22A18 | 1 | Oct 4, 2021 |
| SLC22A18AS | 1 | Oct 4, 2021 |
| SLC25A24 | 1 | Oct 4, 2021 |
| SLC26A1 | 2 | Oct 4, 2021 |
| SLC26A3 | 2 | Oct 4, 2021 |
| SLC26A4 | 7 | Dec 17, 2022 |
| SLC38A8 | 1 | Oct 4, 2021 |
| SLC3A1 | 1 | Dec 17, 2022 |
| SLC5A1 | 1 | Dec 17, 2022 |
| SLC5A7 | 1 | Dec 17, 2022 |
| SLITRK6 | 1 | Oct 4, 2021 |
| SLX4 | 2 | Oct 4, 2021 |
| SMAD7 | 1 | Oct 4, 2021 |
| SMARCA1 | 1 | Dec 17, 2022 |
| SMARCA4 | 1 | Oct 4, 2021 |
| SMC1A | 1 | Dec 17, 2022 |
| SMCHD1 | 1 | Oct 4, 2021 |
| SMPD1 | 1 | Oct 4, 2021 |
| SNX10 | 1 | Dec 17, 2022 |
| SOAT2 | 1 | Oct 4, 2021 |
| SOHLH1 | 1 | Oct 4, 2021 |
| SON | 1 | Dec 17, 2022 |
| SPAG1 | 1 | Oct 4, 2021 |
| SPAG17 | 1 | Oct 4, 2021 |
| SPART | 2 | Dec 17, 2022 |
| SPAST | 1 | Dec 17, 2022 |
| SPG11 | 3 | Oct 4, 2021 |
| SPINK5 | 1 | Dec 17, 2022 |
| SPINT2 | 1 | Dec 17, 2022 |
| SPRY1 | 1 | Oct 4, 2021 |
| SPTA1 | 1 | Oct 4, 2021 |
| SPTAN1 | 5 | Dec 17, 2022 |
| SPTB | 1 | Dec 17, 2022 |
| SRA1 | 1 | Oct 4, 2021 |
| SSH1 | 2 | Oct 4, 2021 |
| ST3GAL3 | 1 | Oct 4, 2021 |
| STAT2 | 3 | Feb 2, 2023 |
| STIL | 1 | Dec 17, 2022 |
| STING1 | 1 | Oct 4, 2021 |
| STRC | 1 | Oct 4, 2021 |
| STXBP1 | 1 | Dec 17, 2022 |
| STXBP3 | 1 | Oct 4, 2021 |
| SVBP | 1 | Dec 17, 2022 |
| SYN1 | 2 | Dec 17, 2022 |
| SYNE1 | 10 | Dec 17, 2022 |
| SYNJ1 | 1 | Dec 17, 2022 |
| TANGO2 | 2 | Dec 17, 2022 |
| TAPT1 | 1 | Oct 4, 2021 |
| TBC1D10B | 1 | Oct 4, 2021 |
| TBC1D24 | 2 | Oct 4, 2021 |
| TBC1D8B | 2 | Oct 4, 2021 |
| TBCEL-TECTA | 1 | Oct 4, 2021 |
| TBCK | 1 | Oct 4, 2021 |
| TBK1 | 1 | Feb 2, 2023 |
| TBL1XR1 | 1 | Oct 4, 2021 |
| TCF12 | 1 | Oct 4, 2021 |
| TCN2 | 1 | Dec 17, 2022 |
| TDRD9 | 1 | Oct 4, 2021 |
| TECTA | 1 | Oct 4, 2021 |
| TENT5A | 1 | Oct 4, 2021 |
| TERT | 1 | Oct 4, 2021 |
| TEX14 | 1 | Oct 4, 2021 |
| TFAP2A | 2 | Dec 17, 2022 |
| TFAP2A-AS2 | 2 | Dec 17, 2022 |
| TGFB2 | 2 | Oct 4, 2021 |
| THG1L | 1 | Oct 4, 2021 |
| TICAM1 | 2 | Feb 2, 2023 |
| TICRR | 1 | Oct 4, 2021 |
| TINF2 | 1 | Oct 4, 2021 |
| TLDC2 | 1 | Oct 4, 2021 |
| TLK2 | 1 | Oct 4, 2021 |
| TLR3 | 1 | Nov 15, 2021 |
| TLR4 | 1 | Feb 2, 2023 |
| TLR6 | 2 | Feb 2, 2023 |
| TMC1 | 1 | Dec 17, 2022 |
| TMEM240 | 1 | Dec 17, 2022 |
| TMEM50B | 1 | Feb 2, 2023 |
| TMEM67 | 3 | Dec 17, 2022 |
| TMPRSS6 | 2 | Dec 17, 2022 |
| TNFAIP3 | 1 | Nov 16, 2020 |
| TNFRSF13B | 3 | Dec 17, 2022 |
| TNFRSF1A | 1 | Nov 16, 2020 |
| TNNT1 | 1 | Oct 4, 2021 |
| TNXB | 3 | Dec 17, 2022 |
| TOM1 | 2 | Dec 17, 2022 |
| TOR1AIP1 | 1 | Oct 4, 2021 |
| TPO | 3 | Oct 4, 2021 |
| TRAF3 | 1 | Nov 15, 2021 |
| TRAP1 | 2 | Oct 4, 2021 |
| TRAPPC11 | 2 | Oct 4, 2021 |
| TRAPPC12 | 1 | Dec 17, 2022 |
| TRB | 1 | Dec 17, 2022 |
| TRIM14 | 1 | Oct 4, 2021 |
| TRIM69 | 1 | Nov 15, 2021 |
| TRIO | 2 | Dec 17, 2022 |
| TRIOBP | 5 | Oct 4, 2021 |
| TRPA1 | 1 | Oct 4, 2021 |
| TRPM1 | 2 | Dec 17, 2022 |
| TRPM7 | 1 | Oct 4, 2021 |
| TSC1 | 1 | Oct 4, 2021 |
| TSC2 | 4 | Dec 17, 2022 |
| TSEN54 | 1 | Oct 4, 2021 |
| TSPEAR | 3 | Oct 4, 2021 |
| TSPOAP1 | 2 | Oct 4, 2021 |
| TSPYL1 | 1 | Oct 4, 2021 |
| TTC21B | 1 | Oct 4, 2021 |
| TTC7A | 1 | Oct 4, 2021 |
| TTI1 | 1 | Oct 4, 2021 |
| TTN | 10 | Dec 17, 2022 |
| TTN-AS1 | 3 | Oct 4, 2021 |
| TUBB2B | 1 | Oct 4, 2021 |
| TXNRD2 | 1 | Dec 17, 2022 |
| UBQLN4 | 1 | Oct 4, 2021 |
| UFSP2 | 1 | Dec 17, 2022 |
| UGT1A | 5 | Dec 17, 2022 |
| UGT1A1 | 5 | Dec 17, 2022 |
| UGT1A10 | 5 | Dec 17, 2022 |
| UGT1A3 | 5 | Dec 17, 2022 |
| UGT1A4 | 5 | Dec 17, 2022 |
| UGT1A5 | 5 | Dec 17, 2022 |
| UGT1A6 | 5 | Dec 17, 2022 |
| UGT1A7 | 5 | Dec 17, 2022 |
| UGT1A8 | 5 | Dec 17, 2022 |
| UGT1A9 | 5 | Dec 17, 2022 |
| UNC13D | 4 | Dec 17, 2022 |
| UNC45B | 1 | Oct 4, 2021 |
| UNG | 1 | Oct 4, 2021 |
| UPB1 | 1 | Oct 4, 2021 |
| USH2A | 2 | Oct 4, 2021 |
| USP7 | 1 | Dec 17, 2022 |
| USP9X | 1 | Oct 4, 2021 |
| VANGL1 | 2 | Oct 4, 2021 |
| VARS2 | 1 | Oct 4, 2021 |
| VCAN | 1 | Oct 4, 2021 |
| VCAN-AS1 | 1 | Oct 4, 2021 |
| VCP | 1 | Oct 4, 2021 |
| VDR | 1 | Oct 4, 2021 |
| VIPAS39 | 1 | Oct 4, 2021 |
| VPS11 | 1 | Oct 4, 2021 |
| VPS13B | 1 | Oct 4, 2021 |
| VWF | 1 | Dec 17, 2022 |
| WAS | 1 | Dec 17, 2022 |
| WDR45 | 1 | Dec 17, 2022 |
| WDR81 | 2 | Oct 4, 2021 |
| WFS1 | 1 | Oct 4, 2021 |
| WHRN | 1 | Oct 4, 2021 |
| WWOX | 1 | Oct 4, 2021 |
| XYLT1 | 1 | Oct 4, 2021 |
| ZBTB18 | 1 | Oct 4, 2021 |
| ZFYVE26 | 4 | Oct 4, 2021 |
| ZFYVE27 | 1 | Dec 17, 2022 |
| ZIC5 | 1 | Oct 4, 2021 |
| ZNF141 | 2 | Oct 4, 2021 |
| ZNF276 | 1 | Oct 4, 2021 |
| ZNF292 | 1 | Oct 4, 2021 |
| ZNF335 | 1 | Oct 4, 2021 |
| ZNF462 | 1 | Oct 4, 2021 |
| ZNF469 | 1 | Oct 4, 2021 |
| ZNF627 | 1 | Oct 4, 2021 |
| ZPBP | 1 | Oct 4, 2021 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| ABCD syndrome | 1 test |
| Abdominal obesity-metabolic syndrome 3 | 1 test |
| Abetalipoproteinaemia | 1 test |
| Achondrogenesis type II | 1 test |
| Achondroplasia | 2 tests |
| Acquired hemoglobin H disease | 1 test |
| Acrodysostosis 1 with or without hormone resistance | 1 test |
| Acrodysostosis 2 with or without hormone resistance | 1 test |
| Acrofacial dysostosis Cincinnati type | 1 test |
| Acromelic frontonasal dysostosis | 1 test |
| Acromesomelic dysplasia 3 | 1 test |
| Adams-Oliver syndrome 5 | 1 test |
| Adrenoleukodystrophy | 1 test |
| Adult hypophosphatasia | 1 test |
| Afibrinogenemia | 1 test |
| Agammaglobulinemia 7, autosomal recessive | 1 test |
| Age related macular degeneration 1 | 1 test |
| Age related macular degeneration 13 | 1 test |
| Age related macular degeneration 14 | 1 test |
| Aicardi-Goutieres syndrome 2 | 1 test |
| Aicardi-Goutieres syndrome 3 | 1 test |
| Aicardi-Goutieres syndrome 4 | 1 test |
| Aicardi-Goutieres syndrome 5 | 1 test |
| Aicardi-Goutieres syndrome 6 | 1 test |
| Aicardi-Goutieres syndrome 7 | 1 test |
| Alagille syndrome due to a JAG1 point mutation | 2 tests |
| Alagille syndrome due to a NOTCH2 point mutation | 4 tests |
| Alpha-1-antitrypsin deficiency | 1 test |
| Alstrom syndrome | 1 test |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 3 tests |
| Aneurysm-osteoarthritis syndrome | 1 test |
| Angelman syndrome | 2 tests |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 2 tests |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 2 tests |
| Aortic aneurysm, familial thoracic 10 | 1 test |
| Aortic aneurysm, familial thoracic 11, susceptibility to | 1 test |
| Aortic aneurysm, familial thoracic 4 | 1 test |
| Aortic aneurysm, familial thoracic 6 | 1 test |
| Aortic aneurysm, familial thoracic 7 | 1 test |
| Aortic aneurysm, familial thoracic 8 | 1 test |
| Aortic aneurysm, familial thoracic 9 | 1 test |
| Aortic valve disease 2 | 1 test |
| Arginine:glycine amidinotransferase deficiency | 1 test |
| Arterial tortuosity syndrome | 1 test |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 1 test |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 1 test |
| Ataxia - oculomotor apraxia type 4 | 1 test |
| Ataxia-telangiectasia syndrome | 1 test |
| Atrial fibrillation, familial, 7 | 2 tests |
| Atypical hemolytic-uremic syndrome | 2 tests |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 1 test |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 2 tests |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 test |
| Auriculocondylar syndrome 1 | 1 test |
| Auriculocondylar syndrome 2 | 1 test |
| Auriculocondylar syndrome 3 | 1 test |
| Autism spectrum disorder | 1 test |
| Autoimmune interstitial lung disease-arthritis syndrome | 3 tests |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 1 test |
| Autoimmune lymphoproliferative syndrome type 4 | 1 test |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 1 test |
| Autoinflammatory syndrome, familial, Behcet-like | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 test |
| Autosomal dominant osteopetrosis 2 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 test |
| Autosomal recessive osteopetrosis 1 | 1 test |
| Autosomal recessive osteopetrosis 2 | 1 test |
| Autosomal recessive osteopetrosis 5 | 1 test |
| Autosomal recessive osteopetrosis 6 | 1 test |
| Autosomal recessive osteopetrosis 8 | 1 test |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | 1 test |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 test |
| Baller-Gerold syndrome | 2 tests |
| Bardet-Biedl syndrome 1 | 1 test |
| Bardet-Biedl syndrome 10 | 1 test |
| Bardet-Biedl syndrome 12 | 1 test |
| Bardet-Biedl syndrome 13 | 1 test |
| Bardet-Biedl syndrome 14 | 1 test |
| Bardet-Biedl syndrome 15 | 1 test |
| Bardet-Biedl syndrome 16 | 1 test |
| Bardet-Biedl syndrome 2 | 1 test |
| Bardet-Biedl syndrome 22 | 1 test |
| Bardet-Biedl syndrome 4 | 1 test |
| Bardet-Biedl syndrome 5 | 1 test |
| Bardet-Biedl syndrome 7 | 1 test |
| Bardet-Biedl syndrome 9 | 1 test |
| Basal cell carcinoma, susceptibility to, 1 | 1 test |
| Basal laminar drusen | 1 test |
| Benign familial hematuria | 1 test |
| Benign hereditary chorea | 1 test |
| Benign recurrent intrahepatic cholestasis type 1 | 1 test |
| Benign recurrent intrahepatic cholestasis type 2 | 1 test |
| Biotinidase deficiency | 1 test |
| Body mass index quantitative trait locus 4 | 1 test |
| Bohring-Opitz syndrome | 1 test |
| Bone fragility with contractures, arterial rupture, and deafness | 1 test |
| Borjeson-Forssman-Lehmann syndrome | 1 test |
| Brachydactyly type A1D | 1 test |
| Brain-lung-thyroid syndrome | 1 test |
| Branchiootic syndrome 3 | 2 tests |
| Branchiootorenal syndrome 2 | 2 tests |
| C syndrome | 2 tests |
| C1Q deficiency | 1 test |
| CFHR5 deficiency | 1 test |
| CHARGE syndrome | 3 tests |
| Capillary malformation-arteriovenous malformation 1 | 1 test |
| Carcinoma of pancreas | 1 test |
| Cardiofaciocutaneous syndrome 3 | 1 test |
| Carotid intimal medial thickness 1 | 1 test |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 test |
| Cerebral arteriovenous malformation | 1 test |
| Cerebral folate transport deficiency | 1 test |
| Cerebro-costo-mandibular syndrome | 1 test |
| Cernunnos-XLF deficiency | 1 test |
| Chitayat syndrome | 2 tests |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 test |
| Cholestasis, progressive familial intrahepatic, 4 | 1 test |
| Cholestasis, progressive familial intrahepatic, 5 | 1 test |
| Christianson syndrome | 1 test |
| Chylomicron retention disease | 1 test |
| Ciliary dyskinesia, primary, 37 | 2 tests |
| Citrullinemia type II | 1 test |
| Classic homocystinuria | 1 test |
| Cleidocranial dysostosis | 2 tests |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 2 tests |
| Cohen syndrome | 1 test |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 1 test |
| Combined immunodeficiency due to DOCK8 deficiency | 1 test |
| Combined immunodeficiency due to LRBA deficiency | 1 test |
| Combined immunodeficiency due to partial RAG1 deficiency | 1 test |
| Combined immunodeficiency with skin granulomas | 1 test |
| Combined immunodeficiency, X-linked | 1 test |
| Complement component 3 deficiency | 1 test |
| Complement component 4a deficiency | 1 test |
| Complement component 4b deficiency | 1 test |
| Complement component 6 deficiency | 1 test |
| Complement component 7 deficiency | 1 test |
| Complement component 9 deficiency | 1 test |
| Complement component C1s deficiency | 1 test |
| Complement factor b deficiency | 1 test |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 3 tests |
| Congenital bile acid synthesis defect 1 | 1 test |
| Congenital bile acid synthesis defect 2 | 1 test |
| Congenital central hypoventilation | 1 test |
| Congenital chromosomal disease | 1 test |
| Congenital contractural arachnodactyly | 1 test |
| Congenital diarrhea 7 with exudative enteropathy | 1 test |
| Congenital generalized lipodystrophy type 3 | 1 test |
| Congenital glucose-galactose malabsorption | 1 test |
| Congenital heart defects, multiple types, 5 | 1 test |
| Congenital lactase deficiency | 1 test |
| Congenital malabsorptive diarrhea 4 | 1 test |
| Congenital microvillous atrophy | 2 tests |
| Congenital muscular hypertrophy-cerebral syndrome | 1 test |
| Congenital secretory diarrhea, chloride type | 1 test |
| Congenital secretory sodium diarrhea 3 | 1 test |
| Congenital secretory sodium diarrhea 8 | 1 test |
| Conotruncal heart malformations | 1 test |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 test |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 1 test |
| Cornelia de Lange syndrome 1 | 1 test |
| Cornelia de Lange syndrome 3 | 1 test |
| Cornelia de Lange syndrome 5 | 1 test |
| Cortical dysplasia-focal epilepsy syndrome | 1 test |
| Cranioectodermal dysplasia 1 | 2 tests |
| Cranioectodermal dysplasia 2 | 2 tests |
| Cranioectodermal dysplasia 3 | 2 tests |
| Cranioectodermal dysplasia 4 | 1 test |
| Craniofacial-deafness-hand syndrome | 1 test |
| Craniofrontonasal syndrome | 2 tests |
| Craniosynostosis 2 | 2 tests |
| Craniosynostosis 6 | 2 tests |
| Creatine transporter deficiency | 1 test |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 1 test |
| Curry-Hall syndrome | 1 test |
| Cushing syndrome | 1 test |
| Cutis laxa, autosomal recessive, type 1A | 1 test |
| Cutis laxa, autosomal recessive, type 1B | 1 test |
| Cyclical neutropenia | 1 test |
| Cystic fibrosis | 3 tests |
| DNA ligase IV deficiency | 1 test |
| DYRK1A-related intellectual disability syndrome | 1 test |
| Deafness, congenital heart defects, and posterior embryotoxon | 2 tests |
| Deafness-lymphedema-leukemia syndrome | 2 tests |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 2 tests |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 test |
| Deficiency of acetyl-CoA acetyltransferase | 2 tests |
| Deficiency of galactokinase | 1 test |
| Deficiency of guanidinoacetate methyltransferase | 1 test |
| Dermatofibrosis lenticularis disseminata | 1 test |
| Developmental and epileptic encephalopathy, 1 | 1 test |
| Developmental and epileptic encephalopathy, 11 | 1 test |
| Developmental and epileptic encephalopathy, 2 | 1 test |
| Developmental and epileptic encephalopathy, 26 | 1 test |
| Developmental and epileptic encephalopathy, 27 | 1 test |
| Developmental and epileptic encephalopathy, 46 | 1 test |
| Developmental and epileptic encephalopathy, 58 | 1 test |
| Developmental and epileptic encephalopathy, 7 | 1 test |
| Developmental and epileptic encephalopathy, 9 | 1 test |
| Diabetes mellitus, transient neonatal, 3 | 2 tests |
| Dilated cardiomyopathy 1NN | 1 test |
| Dubin-Johnson syndrome | 1 test |
| Dyskeratosis congenita, X-linked | 2 tests |
| Dyskeratosis congenita, autosomal dominant 1 | 1 test |
| Dystonia 9 | 1 test |
| Ectodermal dysplasia and immunodeficiency 1 | 2 tests |
| Eculizumab, poor response to | 1 test |
| Ehlers-Danlos syndrome | 1 test |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 test |
| Ehlers-Danlos syndrome, classic type, 2 | 1 test |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 test |
| Ehlers-Danlos syndrome, periodontal type 1 | 1 test |
| Ehlers-Danlos syndrome, type 4 | 2 tests |
| Ellis-van Creveld syndrome | 1 test |
| Encephalocraniocutaneous lipomatosis | 2 tests |
| Epilepsy | 2 tests |
| Epiphyseal dysplasia, multiple, 6 | 1 test |
| Exudative vitreoretinopathy 4 | 1 test |
| FG syndrome 2 | 1 test |
| Familial Mediterranean fever | 2 tests |
| Familial cold autoinflammatory syndrome 1 | 1 test |
| Familial cold autoinflammatory syndrome 2 | 2 tests |
| Familial cold autoinflammatory syndrome 3 | 1 test |
| Familial expansile osteolysis | 1 test |
| Familial pulmonary capillary hemangiomatosis | 2 tests |
| Familial spontaneous pneumothorax | 1 test |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 2 tests |
| Fanconi-Bickel syndrome | 1 test |
| Feingold syndrome type 1 | 1 test |
| Fibrochondrogenesis 1 | 1 test |
| Fibromatosis, gingival, 1 | 1 test |
| Fibrous dysplasia of jaw | 1 test |
| Fragile X syndrome | 1 test |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 1 test |
| Frontonasal dysplasia with alopecia and genital anomaly | 1 test |
| Frontorhiny | 1 test |
| Fructose-biphosphatase deficiency | 1 test |
| Galactosemia | 1 test |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 test |
| Generalized pustular psoriasis | 1 test |
| Global developmental delay | 1 test |
| Glucose-6-phosphate transport defect | 1 test |
| Glycogen storage disease IXa1 | 2 tests |
| Glycogen storage disease IXb | 2 tests |
| Glycogen storage disease IXc | 2 tests |
| Glycogen storage disease IXd | 1 test |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2 tests |
| Glycogen storage disease type III | 2 tests |
| Glycogen storage disease, type II | 1 test |
| Glycogen storage disease, type IV | 1 test |
| Glycogen storage disease, type VI | 2 tests |
| Glycogen storage disease, type VII | 1 test |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 2 tests |
| Granulomatous disease, chronic, X-linked | 1 test |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 1 test |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 1 test |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 1 test |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 1 test |
| Greig cephalopolysyndactyly syndrome | 1 test |
| H syndrome | 1 test |
| Hearing loss, autosomal dominant 34, with or without inflammation | 1 test |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 2 tests |
| Hereditary angioedema type 1 | 1 test |
| Hereditary disease | 2 tests |
| Hereditary pancreatitis | 1 test |
| Heterotopia, periventricular, X-linked dominant | 1 test |
| Histiocytic medullary reticulosis | 1 test |
| Hyper-IgM syndrome type 1 | 1 test |
| Hyper-IgM syndrome type 2 | 1 test |
| Hyper-IgM syndrome type 5 | 1 test |
| Hypercholanemia, familial 1 | 1 test |
| Hypercholesterolemia, autosomal dominant, type B | 1 test |
| Hyperinsulinism-hyperammonemia syndrome | 2 tests |
| Hypomyelinating leukodystrophy 11 | 1 test |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 1 test |
| IL21-related infantile inflammatory bowel disease | 1 test |
| Immunodeficiency 104 | 1 test |
| Immunodeficiency 14 | 1 test |
| Immunodeficiency due to MASP-2 deficiency | 1 test |
| Immunodeficiency due to ficolin3 deficiency | 1 test |
| Immunodeficiency, common variable, 1 | 1 test |
| Immunodeficiency, common variable, 10 | 1 test |
| Immunodeficiency, common variable, 12 | 1 test |
| Immunodeficiency, common variable, 7 | 1 test |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 test |
| Infantile nephronophthisis | 2 tests |
| Infantile-onset periodic fever-panniculitis-dermatosis syndrome | 1 test |
| Inflammatory bowel disease 1 | 1 test |
| Inflammatory skin and bowel disease, neonatal, 1 | 1 test |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 test |
| Intellectual disability, autosomal dominant 1 | 1 test |
| Intellectual disability, autosomal dominant 20 | 1 test |
| Interstitial lung disease due to ABCA3 deficiency | 2 tests |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 1 test |
| Ischemic stroke | 1 test |
| Joubert syndrome 10 | 1 test |
| Juvenile myelomonocytic leukemia | 1 test |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 test |
| KBG syndrome | 1 test |
| Kabuki syndrome 1 | 1 test |
| Kabuki syndrome 2 | 1 test |
| Kartagener syndrome | 2 tests |
| Kleefstra syndrome 1 | 1 test |
| LEOPARD syndrome 1 | 1 test |
| Lafora disease | 1 test |
| Landau-Kleffner syndrome | 1 test |
| Langer mesomelic dysplasia syndrome | 1 test |
| Larsen-like syndrome, B3GAT3 type | 1 test |
| Legius syndrome | 1 test |
| Lethal osteosclerotic bone dysplasia | 1 test |
| Leukocyte adhesion deficiency 3 | 1 test |
| Loeys-Dietz syndrome 1 | 2 tests |
| Loeys-Dietz syndrome 2 | 1 test |
| Loeys-Dietz syndrome 4 | 1 test |
| Lung carcinoma | 1 test |
| Luscan-Lumish syndrome | 1 test |
| Lymphoproliferative syndrome 2 | 1 test |
| Lynch syndrome 8 | 1 test |
| Lysinuric protein intolerance | 2 tests |
| Lysosomal acid lipase deficiency | 1 test |
| MEGF8-related Carpenter syndrome | 2 tests |
| Majeed syndrome | 2 tests |
| Malignant tumor of esophagus | 1 test |
| Malignant tumor of urinary bladder | 1 test |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 test |
| Maple syrup urine disease | 1 test |
| Marfan syndrome | 2 tests |
| Marshall syndrome | 1 test |
| Maturity-onset diabetes of the young type 1 | 1 test |
| Maturity-onset diabetes of the young type 11 | 1 test |
| Maturity-onset diabetes of the young type 14 | 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 |
| Meconium ileus | 1 test |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 1 test |
| Metabolic myopathy due to lactate transporter defect | 3 tests |
| Mevalonic aciduria | 2 tests |
| Microvascular complications of diabetes, susceptibility to, 4 | 1 test |
| Miller syndrome | 1 test |
| Monocytopenia with susceptibility to infections | 1 test |
| Mowat-Wilson syndrome | 1 test |
| Multiple congenital anomalies | 1 test |
| Multiple sclerosis, susceptibility to, 5 | 2 tests |
| Mungan syndrome | 1 test |
| Myhre syndrome | 1 test |
| Myoclonus, familial, 2 | 1 test |
| Nager syndrome | 1 test |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 1 test |
| Neonatal severe primary hyperparathyroidism | 1 test |
| Niemann-Pick disease, type C1 | 1 test |
| Niemann-Pick disease, type C2 | 1 test |
| Noonan syndrome | 1 test |
| Noonan syndrome 10 | 1 test |
| Noonan syndrome 11 | 1 test |
| Noonan syndrome 8 | 1 test |
| Noonan syndrome 9 | 1 test |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
| Noonan syndrome-like disorder with loose anagen hair 2 | 1 test |
| OBESITY (BMIQ9), SUSCEPTIBILITY TO | 1 test |
| Obesity | 1 test |
| Obesity due to congenital leptin deficiency | 1 test |
| Obesity due to leptin receptor gene deficiency | 1 test |
| Obesity due to pro-opiomelanocortin deficiency | 1 test |
| Obesity due to prohormone convertase I deficiency | 2 tests |
| Oculomaxillofacial dysostosis | 2 tests |
| Osteogenesis imperfecta | 1 test |
| Osteogenesis imperfecta type I | 1 test |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 test |
| Osteopathia striata with cranial sclerosis | 1 test |
| Osteopetrosis with renal tubular acidosis | 1 test |
| Otitis media, susceptibility to | 1 test |
| Oto-palato-digital syndrome, type I | 1 test |
| Otofaciocervical syndrome 1 | 2 tests |
| PGM1-congenital disorder of glycosylation | 1 test |
| PMM2-congenital disorder of glycosylation | 1 test |
| Pancreatic triacylglycerol lipase deficiency | 1 test |
| Pancytopenia due to IKZF1 mutations | 1 test |
| Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 1 test |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 test |
| Phenylketonuria | 1 test |
| Phosphate transport defect | 1 test |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 1 test |
| Pitt-Hopkins-like syndrome 2 | 1 test |
| Primary CD59 deficiency | 1 test |
| Primary ciliary dyskinesia | 2 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 5 | 2 tests |
| Primary ciliary dyskinesia 6 | 2 tests |
| Primary ciliary dyskinesia 7 | 2 tests |
| Primary ciliary dyskinesia 9 | 2 tests |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 1 test |
| Progressive sclerosing poliodystrophy | 1 test |
| Properdin deficiency, X-linked | 1 test |
| Proteasome-associated autoinflammatory syndrome 1 | 2 tests |
| Pseudo-TORCH syndrome 2 | 1 test |
| Psoriasis 15, pustular, susceptibility to | 1 test |
| Psoriasis 2 | 1 test |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 1 test |
| Pulmonary hypertension, primary, 1 | 2 tests |
| Pulmonary hypertension, primary, 2 | 2 tests |
| Pulmonary hypertension, primary, 4 | 2 tests |
| Purine-nucleoside phosphorylase deficiency | 1 test |
| Pyknodysostosis | 1 test |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2 tests |
| Pyridoxal phosphate-responsive seizures | 1 test |
| Pyridoxine-dependent epilepsy | 1 test |
| RAB23-related Carpenter syndrome | 2 tests |
| Recurrent Neisseria infections due to factor D deficiency | 1 test |
| Retinitis pigmentosa 23 | 1 test |
| Retinitis pigmentosa 3 | 1 test |
| Retinitis pigmentosa 51 | 1 test |
| Retinitis pigmentosa 55 | 1 test |
| Retinitis pigmentosa 71 | 1 test |
| Retinitis pigmentosa and erythrocytic microcytosis | 1 test |
| Rett syndrome, congenital variant | 1 test |
| Rienhoff syndrome | 1 test |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 test |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 test |
| STAT3-related early-onset multisystem autoimmune disease | 1 test |
| STING-associated vasculopathy with onset in infancy | 1 test |
| Sarcotubular myopathy | 1 test |
| Schaaf-Yang syndrome | 1 test |
| Schuurs-Hoeijmakers syndrome | 1 test |
| Severe combined immunodeficiency disease | 1 test |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 1 test |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 test |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 2 tests |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 test |
| Severe neonatal-onset encephalopathy with microcephaly | 1 test |
| Sex chromosome disorder of sex development | 1 test |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 test |
| Shprintzen-Goldberg syndrome | 3 tests |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 test |
| Spinal muscular atrophy | 1 test |
| Spondyloenchondrodysplasia with immune dysregulation | 1 test |
| Stickler syndrome | 1 test |
| Sucrase-isomaltase deficiency | 1 test |
| Supravalvar aortic stenosis | 1 test |
| Surfactant metabolism dysfunction, pulmonary, 1 | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 2 | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 4 | 2 tests |
| Surfactant metabolism dysfunction, pulmonary, 5 | 2 tests |
| Systemic lupus erythematosus | 2 tests |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 1 test |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 1 test |
| TCF12-related craniosynostosis | 2 tests |
| TWIST1-related craniosynostosis | 2 tests |
| Telangiectasia, hereditary hemorrhagic, type 1 | 2 tests |
| Telangiectasia, hereditary hemorrhagic, type 2 | 2 tests |
| Telangiectasia, hereditary hemorrhagic, type 5 | 2 tests |
| Thrombomodulin-related bleeding disorder | 1 test |
| Townes-Brocks syndrome 1 | 1 test |
| Treacher Collins syndrome 1 | 1 test |
| Treacher Collins syndrome 2 | 1 test |
| Trichohepatoenteric syndrome 1 | 1 test |
| Trichohepatoenteric syndrome 2 | 1 test |
| Type 1 diabetes mellitus 2 | 1 test |
| Type 1 diabetes mellitus 20 | 3 tests |
| Type 2 diabetes mellitus | 3 tests |
| Type I complement component 8 deficiency | 1 test |
| Type II complement component 8 deficiency | 1 test |
| UDPglucose-4-epimerase deficiency | 1 test |
| Unverricht-Lundborg syndrome | 1 test |
| Vasculitis due to ADA2 deficiency | 3 tests |
| Waardenburg syndrome type 1 | 1 test |
| Waardenburg syndrome type 2D | 1 test |
| Waardenburg syndrome type 4C | 1 test |
| Warts, hypogammaglobulinemia, infections, and myelokathexis | 1 test |
| X-linked Alport syndrome | 2 tests |
| X-linked agammaglobulinemia | 1 test |
| X-linked cone-rod dystrophy 1 | 1 test |
| X-linked intellectual disability Cabezas type | 1 test |
| X-linked intellectual disability with marfanoid habitus | 1 test |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 test |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 test |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 test |
| X-linked reticulate pigmentary disorder | 1 test |
| X-linked severe congenital neutropenia | 1 test |