Blueprint Genetics
General information
Blueprint Genetics
Keilaranta 16 A-B
Espoo
Southern Finland
Finland - 02150
http://www.blueprintgenetics.com/
Organization ID: 500188
Keilaranta 16 A-B
Espoo
Southern Finland
Finland - 02150
http://www.blueprintgenetics.com/
Organization ID: 500188
Personnel
- Juha Koskenvuo, Lab Director
Phone: +358402511372
Email: support@blueprintgenetics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5556
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 385 | Jul 22, 2020 |
| ABCC6 | 1 | May 8, 2019 |
| ABCC9 | 9 | May 8, 2019 |
| ABCG5 | 1 | Jan 15, 2016 |
| ABHD12 | 6 | Oct 15, 2019 |
| ABL1 | 1 | May 8, 2019 |
| ACADVL | 2 | Jan 15, 2016 |
| ACAN | 9 | Sep 1, 2021 |
| ACBD6 | 1 | Sep 1, 2021 |
| ACO2 | 1 | Oct 15, 2019 |
| ACTA1 | 1 | May 8, 2019 |
| ACTA2 | 14 | May 8, 2019 |
| ACTA2-AS1 | 6 | May 8, 2019 |
| ACTB | 1 | May 8, 2019 |
| ACTC1 | 9 | May 8, 2019 |
| ACTN1 | 1 | May 8, 2019 |
| ACTN2 | 18 | May 8, 2019 |
| ACVRL1 | 1 | Feb 2, 2015 |
| ADA | 5 | May 8, 2019 |
| ADA2 | 4 | May 8, 2019 |
| ADAM17 | 1 | May 8, 2019 |
| ADAMTSL2 | 3 | Sep 1, 2021 |
| ADGRV1 | 40 | Oct 15, 2019 |
| AGBL5 | 8 | Oct 15, 2019 |
| AHI1 | 17 | Oct 15, 2019 |
| AICDA | 1 | May 8, 2019 |
| AIPL1 | 7 | Oct 15, 2019 |
| AIRE | 5 | May 8, 2019 |
| AK2 | 1 | May 8, 2019 |
| AKAP9 | 20 | Jan 15, 2016 |
| ALMS1 | 25 | Oct 15, 2019 |
| ALPK3 | 6 | May 8, 2019 |
| ALPL | 7 | Sep 1, 2021 |
| ANK2 | 21 | Jan 15, 2016 |
| ANKRD1 | 5 | Jan 15, 2016 |
| ANKRD11 | 6 | Sep 1, 2021 |
| APOA1 | 1 | May 8, 2019 |
| APOA1-AS | 1 | May 8, 2019 |
| APOB | 4 | Feb 2, 2015 |
| ARHGEF18 | 4 | Oct 15, 2019 |
| ARPC1B | 1 | May 8, 2019 |
| ARSB | 1 | Sep 1, 2021 |
| ARSL | 2 | Sep 1, 2021 |
| ATM | 8 | May 8, 2019 |
| AXDND1 | 1 | Feb 2, 2015 |
| B9D1 | 2 | May 26, 2022 |
| BACH2 | 3 | May 8, 2019 |
| BAG3 | 14 | May 8, 2019 |
| BBS1 | 12 | Oct 15, 2019 |
| BBS10 | 6 | Oct 15, 2019 |
| BBS12 | 14 | Oct 15, 2019 |
| BBS2 | 9 | Oct 15, 2019 |
| BBS4 | 4 | Oct 15, 2019 |
| BBS5 | 1 | Oct 15, 2019 |
| BBS7 | 3 | Oct 15, 2019 |
| BBS9 | 3 | Oct 15, 2019 |
| BEST1 | 43 | Oct 15, 2019 |
| BGN | 3 | Sep 1, 2021 |
| BLOC1S1-RDH5 | 5 | Oct 15, 2019 |
| BMP2 | 3 | Sep 1, 2021 |
| BMPR2 | 2 | Jan 15, 2016 |
| BRAF | 8 | May 8, 2019 |
| BTK | 4 | May 8, 2019 |
| C10orf105 | 4 | Oct 15, 2019 |
| C11orf65 | 4 | May 8, 2019 |
| C1QA | 1 | May 8, 2019 |
| C1QTNF5 | 11 | Oct 15, 2019 |
| C1R | 1 | May 8, 2019 |
| C2 | 2 | May 8, 2019 |
| C2orf49 | 5 | Jan 15, 2016 |
| C3 | 4 | May 8, 2019 |
| C6 | 2 | May 8, 2019 |
| C7 | 3 | May 8, 2019 |
| C8G | 1 | May 8, 2019 |
| CABP4 | 3 | Oct 15, 2019 |
| CACNA1A | 2 | Nov 26, 2021 |
| CACNA1C | 12 | Jan 15, 2016 |
| CACNA1C-AS1 | 6 | Jan 15, 2016 |
| CACNA1F | 21 | Oct 15, 2019 |
| CACNA2D1 | 3 | Jan 15, 2016 |
| CACNA2D4 | 4 | Oct 15, 2019 |
| CACNB2 | 7 | Jan 15, 2016 |
| CALM1 | 2 | Feb 2, 2015 |
| CALR3 | 3 | Feb 2, 2015 |
| CANT1 | 1 | Sep 1, 2021 |
| CAPN5 | 2 | Oct 15, 2019 |
| CARD11 | 11 | May 8, 2019 |
| CARD9 | 2 | May 8, 2019 |
| CARMIL2 | 2 | May 8, 2019 |
| CASP8 | 2 | May 8, 2019 |
| CASQ2 | 1 | Jan 15, 2016 |
| CAV3 | 1 | Jan 15, 2016 |
| CBL | 4 | Sep 1, 2021 |
| CBS | 1 | May 8, 2019 |
| CC2D2A | 1 | Oct 15, 2019 |
| CCDC107 | 1 | Sep 1, 2021 |
| CCDC40 | 1 | May 8, 2019 |
| CD19 | 3 | May 8, 2019 |
| CD27 | 2 | May 8, 2019 |
| CD27-AS1 | 2 | May 8, 2019 |
| CD3D | 1 | May 8, 2019 |
| CD40 | 1 | May 8, 2019 |
| CD40LG | 3 | May 8, 2019 |
| CD63 | 2 | Oct 15, 2019 |
| CD81 | 2 | May 8, 2019 |
| CDH23 | 24 | Oct 15, 2019 |
| CDH23-AS1 | 1 | Oct 15, 2019 |
| CDH3 | 1 | Oct 15, 2019 |
| CDHR1 | 14 | Oct 15, 2019 |
| CDKL5 | 24 | Jul 23, 2020 |
| CDKN1C | 1 | Sep 1, 2021 |
| CDT1 | 1 | Sep 1, 2021 |
| CEP164 | 2 | Oct 15, 2019 |
| CEP290 | 37 | Oct 15, 2019 |
| CEP78 | 7 | Oct 15, 2019 |
| CEP85L | 3 | Jan 15, 2016 |
| CERKL | 21 | Oct 15, 2019 |
| CFAP410 | 8 | Oct 15, 2019 |
| CFAP418 | 1 | Oct 15, 2019 |
| CFD | 2 | May 8, 2019 |
| CFH | 5 | May 8, 2019 |
| CFI | 1 | May 8, 2019 |
| CFTR | 3 | May 8, 2019 |
| CFTR-AS1 | 2 | May 8, 2019 |
| CFTR-AS2 | 1 | May 8, 2019 |
| CHD2 | 2 | Jul 23, 2020 |
| CHM | 29 | Oct 15, 2019 |
| CHST3 | 3 | Sep 1, 2021 |
| CIITA | 2 | May 8, 2019 |
| CLASP1 | 7 | Sep 1, 2021 |
| CLCN5 | 1 | May 8, 2019 |
| CLCN7 | 1 | May 8, 2019 |
| CLN3 | 9 | Oct 15, 2019 |
| CLRN1 | 9 | Oct 15, 2019 |
| CLRN1-AS1 | 1 | Oct 15, 2019 |
| CNGA1 | 18 | Oct 15, 2019 |
| CNGA3 | 33 | Sep 29, 2020 |
| CNGB1 | 27 | Oct 15, 2019 |
| CNGB3 | 13 | Oct 15, 2019 |
| CNNM4 | 2 | Oct 15, 2019 |
| COL10A1 | 9 | Sep 1, 2021 |
| COL11A1 | 4 | Sep 1, 2021 |
| COL11A2 | 5 | Sep 1, 2021 |
| COL18A1 | 3 | Oct 15, 2019 |
| COL1A1 | 16 | Sep 1, 2021 |
| COL1A2 | 13 | Sep 1, 2021 |
| COL2A1 | 41 | Sep 1, 2021 |
| COL3A1 | 20 | May 8, 2019 |
| COL5A1 | 19 | Sep 1, 2021 |
| COL5A2 | 22 | May 8, 2019 |
| COL9A1 | 1 | Sep 1, 2021 |
| COL9A2 | 1 | Sep 1, 2021 |
| COL9A3 | 1 | Sep 1, 2021 |
| COMP | 12 | Sep 1, 2021 |
| COMT | 1 | Jan 15, 2016 |
| COPA | 2 | May 8, 2019 |
| CR2 | 5 | May 8, 2019 |
| CRB1 | 69 | Oct 15, 2019 |
| CREBBP | 3 | Sep 1, 2021 |
| CRTAP | 1 | Sep 1, 2021 |
| CRX | 19 | Oct 15, 2019 |
| CRYAB | 3 | Jan 15, 2016 |
| CSF2RA | 1 | May 8, 2019 |
| CSF3R | 1 | May 8, 2019 |
| CSRP3 | 11 | May 8, 2019 |
| CTC1 | 1 | May 8, 2019 |
| CTF1 | 2 | Jan 15, 2016 |
| CTLA4 | 4 | May 8, 2019 |
| CTNNA1 | 8 | Oct 15, 2019 |
| CTNNA3 | 14 | Jan 15, 2016 |
| CTSC | 1 | May 8, 2019 |
| CUL7 | 5 | Sep 1, 2021 |
| CWC27 | 1 | Oct 15, 2019 |
| CXCR4 | 1 | May 8, 2019 |
| CYBA | 1 | May 8, 2019 |
| CYBB | 2 | May 8, 2019 |
| CYGB | 2 | Oct 15, 2019 |
| CYP2U1-AS1 | 1 | Sep 1, 2021 |
| CYP4V2 | 7 | Oct 15, 2019 |
| DCLRE1C | 1 | May 8, 2019 |
| DCX | 1 | Jul 23, 2020 |
| DDR2 | 2 | Sep 1, 2021 |
| DES | 11 | May 8, 2019 |
| DGKE | 1 | May 8, 2019 |
| DHODH | 1 | Sep 1, 2021 |
| DLG4 | 1 | Feb 2, 2015 |
| DLL3 | 1 | Sep 1, 2021 |
| DMD | 14 | May 8, 2019 |
| DMPK | 3 | Jan 15, 2016 |
| DNAAF1 | 1 | May 8, 2019 |
| DNAAF11 | 1 | May 8, 2019 |
| DNAAF4 | 1 | May 8, 2019 |
| DNAAF4-CCPG1 | 1 | May 8, 2019 |
| DNAAF5 | 2 | May 8, 2019 |
| DNAH11 | 2 | May 8, 2019 |
| DNAH5 | 1 | May 8, 2019 |
| DNAJC21 | 1 | May 8, 2019 |
| DNMT3B | 1 | May 8, 2019 |
| DOCK2 | 7 | May 8, 2019 |
| DOCK6 | 2 | Sep 1, 2021 |
| DOCK6-AS1 | 1 | Sep 1, 2021 |
| DOCK8 | 1 | May 8, 2019 |
| DOP1A | 1 | Sep 1, 2021 |
| DPH2 | 2 | May 8, 2020 |
| DPP6 | 4 | Jan 15, 2016 |
| DRAM2 | 2 | Oct 15, 2019 |
| DSC2 | 19 | May 8, 2019 |
| DSCAS | 1 | Jan 15, 2016 |
| DSG2 | 22 | Jan 15, 2016 |
| DSG2-AS1 | 8 | Jan 15, 2016 |
| DSP | 67 | May 8, 2019 |
| DSP-AS1 | 1 | Jan 15, 2016 |
| DTHD1 | 2 | Oct 15, 2019 |
| DTNA | 6 | Jan 15, 2016 |
| DVL1 | 2 | Sep 1, 2021 |
| DYNC2H1 | 15 | Sep 1, 2021 |
| DYNC2LI1 | 1 | Jan 15, 2016 |
| DYSF | 2 | May 8, 2019 |
| EFEMP1 | 6 | Oct 15, 2019 |
| EFEMP2 | 1 | May 8, 2019 |
| EFTUD2 | 1 | Sep 1, 2021 |
| ELANE | 4 | May 8, 2019 |
| ELN | 6 | May 8, 2019 |
| ELN-AS1 | 1 | May 8, 2019 |
| ELOVL4 | 2 | Oct 15, 2019 |
| EMD | 2 | Jan 15, 2016 |
| ENG | 2 | Jan 15, 2016 |
| EP300 | 1 | Sep 1, 2021 |
| ESCO2 | 1 | Sep 1, 2021 |
| ESR2 | 2 | Jan 15, 2016 |
| EVC | 1 | Sep 1, 2021 |
| EVC2 | 2 | Sep 1, 2021 |
| EXT2 | 1 | Sep 1, 2021 |
| EYA4 | 1 | Jan 15, 2016 |
| EYS | 111 | May 26, 2022 |
| FAM161A | 7 | Oct 15, 2019 |
| FAM20A | 2 | Sep 1, 2021 |
| FAS | 3 | May 8, 2019 |
| FBLN5 | 2 | Oct 15, 2019 |
| FBN1 | 104 | Sep 1, 2021 |
| FBN2 | 16 | May 8, 2019 |
| FGD1 | 1 | Sep 1, 2021 |
| FGFR1 | 1 | Sep 1, 2021 |
| FGFR2 | 1 | Sep 1, 2021 |
| FGFR3 | 14 | Sep 1, 2021 |
| FHL1 | 6 | May 8, 2019 |
| FHL2 | 5 | Jan 15, 2016 |
| FKBP10 | 1 | Sep 1, 2021 |
| FLNA | 11 | Sep 1, 2021 |
| FLNB | 11 | Sep 1, 2021 |
| FLNC | 17 | May 8, 2019 |
| FLNC-AS1 | 7 | May 8, 2019 |
| FLVCR1 | 9 | Oct 15, 2019 |
| FN1 | 1 | Sep 1, 2021 |
| FOXP3 | 2 | May 8, 2019 |
| FPGT-TNNI3K | 2 | May 8, 2019 |
| FRMD7 | 1 | Oct 15, 2019 |
| FTH1 | 1 | Oct 15, 2019 |
| FZD4 | 2 | Oct 15, 2019 |
| G6PD | 2 | May 8, 2019 |
| GAA | 3 | May 8, 2019 |
| GANAB | 2 | May 8, 2019 |
| GATA2 | 3 | May 8, 2019 |
| GATA4 | 1 | May 31, 2022 |
| GATA5 | 6 | May 8, 2019 |
| GATA6 | 1 | May 8, 2019 |
| GATAD1 | 1 | Oct 15, 2019 |
| GDF5 | 1 | Sep 1, 2021 |
| GFI1 | 1 | May 8, 2019 |
| GIGYF2 | 2 | Oct 15, 2019 |
| GJD2-DT | 9 | May 8, 2019 |
| GLA | 9 | May 8, 2019 |
| GLB1 | 1 | Mar 2, 2015 |
| GLI3 | 3 | Sep 1, 2021 |
| GNAS | 3 | Sep 1, 2021 |
| GNAT1 | 2 | Oct 15, 2019 |
| GNAT2 | 2 | Oct 15, 2019 |
| GPD1L | 3 | Jan 15, 2016 |
| GPHN | 28 | Oct 15, 2019 |
| GPR179 | 6 | Oct 15, 2019 |
| GRM6 | 6 | Oct 15, 2019 |
| GUCA1A | 10 | Oct 15, 2019 |
| GUCA1ANB-GUCA1A | 10 | Oct 15, 2019 |
| GUCA1B | 1 | Oct 15, 2019 |
| GUCY2D | 26 | Oct 15, 2019 |
| HARS1 | 2 | Oct 15, 2019 |
| HAX1 | 1 | May 8, 2019 |
| HCN4 | 7 | May 8, 2019 |
| HDAC8 | 1 | Sep 1, 2021 |
| HFE | 5 | Jan 15, 2016 |
| HFE-AS1 | 3 | Jan 15, 2016 |
| HGSNAT | 11 | May 15, 2020 |
| HK1 | 4 | Oct 15, 2019 |
| HNF1B | 1 | May 8, 2019 |
| HRAS | 7 | May 8, 2019 |
| HRC | 2 | Jan 15, 2016 |
| HSPG2 | 5 | Sep 1, 2021 |
| HYDIN | 1 | May 8, 2019 |
| HYOU1 | 1 | May 8, 2019 |
| IFIH1 | 3 | May 8, 2019 |
| IFITM5 | 1 | Sep 1, 2021 |
| IFNAR2-IL10RB | 1 | May 8, 2019 |
| IFNGR1 | 1 | May 8, 2019 |
| IFNGR2 | 1 | May 8, 2019 |
| IFT140 | 32 | Oct 15, 2019 |
| IFT172 | 4 | Oct 15, 2019 |
| IGFALS | 2 | Sep 1, 2021 |
| IHH | 2 | Sep 1, 2021 |
| IKZF1 | 3 | May 8, 2019 |
| IL10RB | 1 | May 8, 2019 |
| IL12RB1 | 2 | May 8, 2019 |
| IL2RG | 3 | May 8, 2019 |
| IL36RN | 1 | May 8, 2019 |
| IL7R | 3 | May 8, 2019 |
| ILK | 7 | Jan 15, 2016 |
| IMPDH1 | 16 | Oct 15, 2019 |
| IMPG1 | 11 | Oct 15, 2019 |
| IMPG2 | 42 | Oct 15, 2019 |
| INF2 | 1 | Feb 2, 2015 |
| INPP5E | 10 | Oct 15, 2019 |
| INPPL1 | 1 | Sep 1, 2021 |
| INVS | 1 | May 8, 2019 |
| IQCB1 | 4 | Oct 15, 2019 |
| IRF2BP2 | 5 | May 8, 2019 |
| ITGA4 | 2 | Oct 15, 2019 |
| ITGB2 | 3 | May 8, 2019 |
| ITK | 1 | May 8, 2019 |
| JAG1 | 1 | Oct 15, 2019 |
| JAK3 | 4 | May 8, 2019 |
| JPH2 | 16 | May 8, 2019 |
| JUP | 14 | May 8, 2019 |
| KCNA2 | 2 | Jul 23, 2020 |
| KCND3 | 2 | Jan 15, 2016 |
| KCNE1 | 2 | Aug 9, 2023 |
| KCNE2 | 1 | Feb 2, 2015 |
| KCNH2 | 34 | Jan 15, 2016 |
| KCNJ13 | 2 | Oct 15, 2019 |
| KCNJ2 | 5 | Jan 15, 2016 |
| KCNJ8 | 2 | Jan 15, 2016 |
| KCNJ8-AS1 | 6 | Jan 15, 2016 |
| KCNV2 | 18 | Oct 15, 2019 |
| KIAA0586 | 2 | Oct 15, 2019 |
| KIF11 | 4 | Oct 15, 2019 |
| KIF1A | 1 | Jul 23, 2020 |
| KIF22 | 2 | Sep 1, 2021 |
| KIRREL2 | 1 | Feb 2, 2015 |
| KIZ | 5 | Oct 15, 2019 |
| KIZ-AS1 | 1 | Oct 15, 2019 |
| KLHL7 | 7 | Oct 15, 2019 |
| KRAS | 9 | May 8, 2019 |
| LAMA4 | 12 | Jan 15, 2016 |
| LAMB2 | 2 | Jan 15, 2016 |
| LAMP2 | 9 | May 8, 2019 |
| LAT | 1 | May 8, 2019 |
| LCA5 | 7 | Oct 15, 2019 |
| LDB3 | 8 | Jan 15, 2016 |
| LDLR | 7 | Jan 15, 2016 |
| LHX4 | 1 | Sep 1, 2021 |
| LHX4-AS1 | 1 | Sep 1, 2021 |
| LIFR | 1 | Sep 1, 2021 |
| LIG4 | 2 | May 8, 2019 |
| LMNA | 27 | May 8, 2019 |
| LOC101448202 | 4 | Jan 15, 2016 |
| LOC101927055 | 1 | May 8, 2019 |
| LOC101927157 | 18 | Oct 15, 2019 |
| LOC102723692 | 1 | Sep 1, 2021 |
| LOC102724058 | 1 | Jul 23, 2020 |
| LOC105371046 | 14 | Oct 15, 2019 |
| LOC105372791 | 1 | Feb 2, 2015 |
| LOC106029312 | 3 | May 8, 2019 |
| LOC107303343 | 2 | May 8, 2019 |
| LOC107652445 | 1 | Sep 1, 2021 |
| LOC108021846 | 2 | Sep 1, 2021 |
| LOC110121269 | 2 | Jan 15, 2016 |
| LOC110806306 | 1 | May 8, 2019 |
| LOC111674472 | 1 | May 8, 2019 |
| LOC114827850 | 1 | May 8, 2019 |
| LOC114827851 | 3 | Jan 15, 2016 |
| LOC122152296 | 9 | Oct 15, 2019 |
| LOC124418421 | 1 | May 8, 2019 |
| LOC126805612 | 1 | May 8, 2019 |
| LOC126805613 | 1 | Oct 15, 2019 |
| LOC126805726 | 2 | May 8, 2020 |
| LOC126805793 | 24 | Oct 15, 2019 |
| LOC126805794 | 4 | Oct 15, 2019 |
| LOC126805877 | 3 | Jan 15, 2016 |
| LOC126805994 | 1 | May 8, 2019 |
| LOC126806067 | 1 | Jan 15, 2016 |
| LOC126806068 | 3 | Jan 15, 2016 |
| LOC126806173 | 2 | Oct 15, 2019 |
| LOC126806422 | 2 | Jan 15, 2016 |
| LOC126806423 | 2 | May 8, 2019 |
| LOC126806426 | 3 | May 8, 2019 |
| LOC126806427 | 2 | May 8, 2019 |
| LOC126806428 | 1 | Aug 28, 2014 |
| LOC126806431 | 1 | Feb 2, 2015 |
| LOC126806433 | 2 | May 8, 2019 |
| LOC126806446 | 1 | May 8, 2019 |
| LOC126806913 | 1 | Oct 15, 2019 |
| LOC126807136 | 3 | Jan 15, 2016 |
| LOC126807137 | 4 | Jan 15, 2016 |
| LOC126807501 | 2 | May 8, 2019 |
| LOC126807589 | 1 | May 8, 2019 |
| LOC126859690 | 2 | May 8, 2019 |
| LOC126859837 | 1 | Jan 15, 2016 |
| LOC126860392 | 5 | Oct 15, 2019 |
| LOC126861318 | 1 | Sep 1, 2021 |
| LOC126861896 | 2 | Jan 15, 2016 |
| LOC126861897 | 6 | Jan 15, 2016 |
| LOC126861898 | 13 | May 8, 2019 |
| LOC126862124 | 2 | Jan 15, 2016 |
| LOC126862260 | 3 | Oct 15, 2019 |
| LOC126862586 | 1 | May 8, 2019 |
| LOC126862866 | 1 | Jul 23, 2020 |
| LOC126863008 | 1 | Oct 15, 2019 |
| LOC126863257 | 2 | Oct 15, 2019 |
| LOC126863258 | 1 | May 8, 2019 |
| LOC129388577 | 1 | Oct 15, 2019 |
| LOC129391306 | 4 | Oct 15, 2019 |
| LOC129932486 | 1 | Oct 15, 2019 |
| LOC129932810 | 2 | May 8, 2019 |
| LOC129932812 | 1 | May 8, 2019 |
| LOC129933843 | 1 | Oct 15, 2019 |
| LOC129935183 | 1 | Jan 15, 2016 |
| LOC129935184 | 1 | Feb 2, 2015 |
| LOC129935214 | 1 | Oct 15, 2019 |
| LOC129936436 | 1 | Sep 1, 2021 |
| LOC129992813 | 2 | May 8, 2019 |
| LOC129996517 | 1 | Sep 1, 2021 |
| LOC129996881 | 1 | Oct 15, 2019 |
| LOC129999258 | 1 | Oct 15, 2019 |
| LOC130000316 | 1 | Oct 15, 2019 |
| LOC130005165 | 1 | May 8, 2019 |
| LOC130005201 | 1 | Aug 28, 2014 |
| LOC130008520 | 1 | Feb 2, 2015 |
| LOC130055387 | 3 | Oct 15, 2019 |
| LOC130055403 | 1 | May 8, 2019 |
| LOC130057222 | 1 | Jan 15, 2016 |
| LOC130058353 | 1 | Sep 1, 2021 |
| LOC130058878 | 2 | Jan 15, 2016 |
| LOC130059892 | 1 | Sep 1, 2021 |
| LOC130062586 | 1 | May 8, 2019 |
| LOC130063193 | 1 | May 8, 2019 |
| LOC130063377 | 1 | Oct 15, 2019 |
| LOC130065509 | 1 | Oct 15, 2019 |
| LOC130066823 | 1 | Oct 15, 2019 |
| LOC130068098 | 3 | Aug 6, 2020 |
| LOC130068202 | 3 | Oct 15, 2019 |
| LOC130068854 | 1 | Jul 23, 2020 |
| LPIN2 | 2 | May 8, 2019 |
| LPL | 1 | Feb 2, 2015 |
| LRBA | 16 | May 8, 2019 |
| LRP5 | 9 | Oct 15, 2019 |
| LRRC56 | 7 | May 8, 2019 |
| LTBP3 | 2 | Sep 1, 2021 |
| LYST | 4 | May 8, 2019 |
| LZTR1 | 7 | Sep 1, 2021 |
| MAGT1 | 1 | May 8, 2019 |
| MAK | 6 | Oct 15, 2019 |
| MALT1 | 3 | May 8, 2019 |
| MALT1-AS1 | 1 | May 8, 2019 |
| MAP2K2 | 3 | May 8, 2019 |
| MASP1 | 4 | May 8, 2019 |
| MASP2 | 1 | May 8, 2019 |
| MATN3 | 1 | Sep 1, 2021 |
| MECP2 | 4 | Jul 23, 2020 |
| MEF2C | 1 | Jul 23, 2020 |
| MEFV | 1 | May 8, 2019 |
| MERTK | 30 | Oct 15, 2019 |
| MFAP5 | 1 | May 8, 2019 |
| MFRP | 11 | Oct 15, 2019 |
| MFSD8 | 3 | Jul 23, 2020 |
| MHRT | 11 | May 8, 2019 |
| MIB1 | 5 | Jan 15, 2016 |
| MIR1225 | 1 | May 8, 2019 |
| MKKS | 4 | Oct 15, 2019 |
| MMACHC | 1 | Oct 15, 2019 |
| MMP13 | 1 | Sep 1, 2021 |
| MSN | 1 | May 8, 2019 |
| MTM1 | 1 | Jun 24, 2020 |
| MVK | 4 | Oct 15, 2019 |
| MYBPC3 | 153 | May 8, 2019 |
| MYCN | 1 | Sep 1, 2021 |
| MYH11 | 23 | May 8, 2019 |
| MYH6 | 25 | May 8, 2019 |
| MYH7 | 112 | May 8, 2019 |
| MYL2 | 7 | May 8, 2019 |
| MYL3 | 10 | May 8, 2019 |
| MYLK | 7 | Jan 15, 2016 |
| MYLK-AS1 | 1 | Jan 15, 2016 |
| MYLK2 | 2 | Jan 15, 2016 |
| MYO7A | 45 | Oct 15, 2019 |
| MYOM1 | 10 | Jan 15, 2016 |
| MYPN | 12 | Jan 15, 2016 |
| NBN | 1 | May 8, 2019 |
| NCAPH2 | 1 | Jan 15, 2016 |
| NCF1 | 3 | May 8, 2019 |
| NCF2 | 2 | May 8, 2019 |
| NDE1 | 7 | May 8, 2019 |
| NEBL | 6 | Jan 15, 2016 |
| NEK1 | 2 | Sep 1, 2021 |
| NEXN | 10 | Jan 15, 2016 |
| NF1 | 10 | Sep 1, 2021 |
| NFKB1 | 9 | May 8, 2019 |
| NFKB2 | 4 | May 8, 2019 |
| NFKBIA | 2 | May 8, 2019 |
| NIPBL | 3 | Sep 1, 2021 |
| NLRC4 | 2 | May 8, 2019 |
| NLRP1 | 3 | May 8, 2019 |
| NLRP12 | 3 | May 8, 2019 |
| NLRP3 | 2 | May 8, 2019 |
| NMNAT1 | 8 | Oct 15, 2019 |
| NOD2 | 1 | May 8, 2019 |
| NOTCH1 | 27 | May 8, 2019 |
| NOTCH2 | 2 | Sep 1, 2021 |
| NOVA2 | 1 | Nov 30, 2021 |
| NPHP3 | 4 | May 8, 2019 |
| NPHP3-ACAD11 | 4 | May 8, 2019 |
| NPHP4 | 7 | Oct 15, 2019 |
| NPHS1 | 11 | Jan 15, 2016 |
| NPHS2 | 3 | Jan 15, 2016 |
| NPR2 | 7 | Sep 1, 2021 |
| NR2E3 | 27 | Oct 15, 2019 |
| NRAS | 1 | May 8, 2019 |
| NRL | 6 | Oct 15, 2019 |
| NSUN6 | 6 | Jan 15, 2016 |
| NT5DC1 | 9 | Sep 1, 2021 |
| NYX | 7 | Oct 15, 2019 |
| OAT | 3 | Oct 15, 2019 |
| OBSL1 | 7 | Sep 1, 2021 |
| ODAD1 | 1 | May 8, 2019 |
| OFD1 | 2 | Oct 15, 2019 |
| OPA1 | 7 | Oct 15, 2019 |
| OPA1-AS1 | 1 | Oct 15, 2019 |
| OTX2 | 2 | Oct 15, 2019 |
| OXTR | 1 | Jan 15, 2016 |
| PARN | 1 | May 8, 2019 |
| PAX2 | 3 | Oct 15, 2019 |
| PCARE | 18 | Oct 15, 2019 |
| PCDH15 | 4 | Oct 15, 2019 |
| PCDH19 | 1 | Jul 23, 2020 |
| PDE4D | 2 | Sep 1, 2021 |
| PDE6A | 28 | Oct 15, 2019 |
| PDE6B | 40 | Oct 15, 2019 |
| PDE6B-AS1 | 12 | Oct 15, 2019 |
| PDE6C | 9 | Oct 15, 2019 |
| PDE6G | 1 | Oct 15, 2019 |
| PDLIM3 | 3 | Jan 15, 2016 |
| PEX1 | 5 | Oct 15, 2019 |
| PEX6 | 2 | Oct 15, 2019 |
| PGGHG | 1 | Sep 1, 2021 |
| PGM3 | 2 | Sep 1, 2021 |
| PHF3 | 17 | Oct 15, 2019 |
| PHYH | 4 | Oct 15, 2019 |
| PIGT | 1 | Jul 23, 2020 |
| PIK3CD | 8 | May 8, 2019 |
| PIK3R1 | 1 | May 8, 2019 |
| PITPNM3 | 5 | Oct 15, 2019 |
| PKD1 | 92 | May 8, 2019 |
| PKD1-AS1 | 10 | May 8, 2019 |
| PKD2 | 20 | May 8, 2019 |
| PKHD1 | 45 | May 8, 2019 |
| PKP2 | 25 | May 8, 2019 |
| PLCG2 | 6 | May 8, 2019 |
| PLN | 3 | Jan 15, 2016 |
| PNP | 3 | May 8, 2019 |
| PNPLA6 | 2 | Oct 15, 2019 |
| POC1A | 2 | Sep 1, 2021 |
| POC1B | 2 | Oct 15, 2019 |
| POC1B-DUSP6 | 2 | Oct 15, 2019 |
| POLE | 3 | May 8, 2019 |
| POLR1C | 2 | Sep 1, 2021 |
| PPP1CB | 1 | May 8, 2019 |
| PPT1 | 1 | Jul 23, 2020 |
| PRCD | 2 | Oct 15, 2019 |
| PRDM13 | 2 | Oct 15, 2019 |
| PRDM16 | 2 | May 8, 2019 |
| PRF1 | 1 | May 8, 2019 |
| PRKAG2 | 11 | May 8, 2019 |
| PRKAR1A | 2 | Sep 1, 2021 |
| PRKCSH | 1 | May 8, 2019 |
| PRKDC | 6 | May 8, 2019 |
| PRKG1 | 3 | Jan 15, 2016 |
| PROM1 | 36 | Oct 15, 2019 |
| PRPF3 | 10 | Oct 15, 2019 |
| PRPF31 | 47 | Oct 15, 2019 |
| PRPF31-AS1 | 28 | Oct 15, 2019 |
| PRPF4 | 4 | Oct 15, 2019 |
| PRPF6 | 4 | Apr 9, 2021 |
| PRPF8 | 22 | Oct 15, 2019 |
| PRPH2 | 58 | Oct 15, 2019 |
| PRPS1 | 2 | Oct 15, 2019 |
| PRSS23 | 2 | Oct 15, 2019 |
| PSEN2 | 1 | Feb 2, 2015 |
| PTPN11 | 29 | Sep 1, 2021 |
| PTPRC | 3 | May 8, 2019 |
| PUF60 | 2 | Sep 1, 2021 |
| RAB27A | 1 | May 8, 2019 |
| RAB28 | 3 | Oct 15, 2019 |
| RAF1 | 19 | May 8, 2019 |
| RAG1 | 9 | May 8, 2019 |
| RAG2 | 2 | May 8, 2019 |
| RAX2 | 10 | Oct 15, 2019 |
| RBM20 | 25 | May 8, 2019 |
| RBP3 | 5 | Oct 15, 2019 |
| RDH12 | 28 | Oct 15, 2019 |
| RDH5 | 5 | Oct 15, 2019 |
| RECQL4 | 2 | Sep 1, 2021 |
| REEP6 | 2 | Oct 15, 2019 |
| RFX5 | 4 | May 8, 2019 |
| RFXANK | 3 | May 8, 2019 |
| RFXAP | 2 | May 8, 2019 |
| RHO | 47 | Oct 15, 2019 |
| RIC3 | 1 | Oct 15, 2019 |
| RILP | 1 | Oct 15, 2019 |
| RIMS1 | 12 | Oct 15, 2019 |
| RIT1 | 4 | May 8, 2019 |
| RLBP1 | 4 | Oct 15, 2019 |
| RLIG1 | 3 | Oct 15, 2019 |
| RMRP | 2 | Sep 1, 2021 |
| RNASEH2A | 1 | May 8, 2019 |
| RNASEH2B | 1 | Jul 23, 2020 |
| RNASEH2C | 2 | May 8, 2019 |
| RNF31 | 1 | May 8, 2019 |
| RNU4ATAC | 7 | Sep 1, 2021 |
| ROM1 | 3 | Oct 15, 2019 |
| RP1 | 50 | Oct 15, 2019 |
| RP1L1 | 30 | Oct 15, 2019 |
| RP2 | 20 | May 26, 2022 |
| RPE65 | 20 | Oct 6, 2022 |
| RPGR | 228 | Apr 12, 2022 |
| RPGRIP1 | 13 | Oct 15, 2019 |
| RPGRIP1L | 4 | Oct 15, 2019 |
| RPL36A-HNRNPH2 | 9 | May 8, 2019 |
| RRAS | 1 | May 8, 2019 |
| RS1 | 28 | Oct 15, 2019 |
| RTEL1 | 2 | May 8, 2019 |
| RTEL1-TNFRSF6B | 2 | May 8, 2019 |
| RYR2 | 55 | Jan 15, 2016 |
| SAG | 6 | Oct 15, 2019 |
| SAMD9 | 1 | May 8, 2019 |
| SAMHD1 | 3 | May 8, 2019 |
| SBDS | 2 | May 8, 2019 |
| SCN1A | 3 | Jul 23, 2020 |
| SCN1A-AS1 | 1 | May 8, 2019 |
| SCN1B | 2 | Jan 15, 2016 |
| SCN2A | 2 | Jul 23, 2020 |
| SCN3B | 2 | Jan 15, 2016 |
| SCN4B | 1 | Aug 28, 2014 |
| SCN5A | 52 | May 8, 2019 |
| SCN9A | 1 | May 8, 2019 |
| SCO2 | 1 | Jan 15, 2016 |
| SDHA | 1 | Jan 15, 2016 |
| SEC63 | 2 | May 8, 2019 |
| SEMA4A | 4 | Oct 15, 2019 |
| SERPINF1 | 1 | Sep 1, 2021 |
| SGMS2 | 1 | Sep 1, 2021 |
| SH2D1A | 1 | May 8, 2019 |
| SHOC2 | 2 | Jan 15, 2016 |
| SHOX | 4 | Sep 1, 2021 |
| SIX5 | 1 | May 8, 2019 |
| SKI | 6 | May 8, 2019 |
| SLC19A1 | 1 | Oct 15, 2019 |
| SLC19A3 | 1 | Jul 23, 2020 |
| SLC24A1 | 4 | Oct 15, 2019 |
| SLC26A2 | 4 | Sep 1, 2021 |
| SLC29A3 | 1 | May 8, 2019 |
| SLC2A10 | 1 | Jan 15, 2016 |
| SLC34A3 | 1 | Sep 1, 2021 |
| SLC6A8 | 1 | Jul 23, 2020 |
| SLC7A14 | 2 | Oct 15, 2019 |
| SLC7A14-AS1 | 2 | Oct 15, 2019 |
| SLC7A9 | 1 | May 8, 2019 |
| SLMAP | 1 | Jan 15, 2016 |
| SMAD3 | 13 | May 8, 2019 |
| SNRNP200 | 29 | Oct 15, 2019 |
| SNTA1 | 5 | Jan 15, 2016 |
| SOS1 | 19 | May 8, 2019 |
| SOS2 | 1 | May 8, 2019 |
| SOX9 | 6 | Sep 1, 2021 |
| SPAG8 | 1 | Sep 1, 2021 |
| SPATA7 | 2 | Oct 15, 2019 |
| SPINK5 | 1 | May 8, 2019 |
| SPRED1 | 2 | May 8, 2019 |
| STAT2 | 5 | May 8, 2019 |
| STAT3 | 8 | May 8, 2019 |
| STAT5B | 2 | May 8, 2019 |
| STIM1 | 2 | May 8, 2019 |
| STING1 | 2 | May 8, 2019 |
| STXBP1 | 2 | Jul 23, 2020 |
| STXBP2 | 1 | May 8, 2019 |
| SYN3 | 4 | Oct 15, 2019 |
| SYNE1 | 2 | Jan 15, 2016 |
| SYNE2 | 5 | Jan 15, 2016 |
| SYNGAP1 | 1 | Jul 23, 2020 |
| SYNGAP1-AS1 | 1 | Jul 23, 2020 |
| TAF10 | 6 | Jan 15, 2016 |
| TAFAZZIN | 1 | Jan 15, 2016 |
| TAP1 | 1 | May 8, 2019 |
| TAP2 | 1 | May 8, 2019 |
| TAPBP | 2 | May 8, 2019 |
| TBX1 | 1 | May 8, 2019 |
| TBX5 | 1 | May 8, 2019 |
| TCAP | 3 | Jan 15, 2016 |
| TCF3 | 2 | May 8, 2019 |
| TEAD3 | 1 | Oct 15, 2019 |
| TERC | 1 | May 8, 2019 |
| TERT | 2 | May 8, 2019 |
| TGFB2 | 10 | May 8, 2019 |
| TGFB3 | 6 | May 8, 2019 |
| TGFBR1 | 14 | May 8, 2019 |
| TGFBR2 | 13 | May 8, 2019 |
| THBD | 2 | May 8, 2019 |
| TIMP3 | 4 | Oct 15, 2019 |
| TINF2 | 1 | May 8, 2019 |
| TLDC2 | 1 | May 8, 2019 |
| TMEM43 | 7 | Jan 15, 2016 |
| TMPO | 3 | Feb 2, 2015 |
| TMPO-AS1 | 1 | Feb 2, 2015 |
| TNFAIP3 | 1 | May 8, 2019 |
| TNFRSF13B | 6 | May 8, 2019 |
| TNNC1 | 2 | May 8, 2019 |
| TNNI3 | 17 | May 8, 2019 |
| TNNI3K | 2 | May 8, 2019 |
| TNNT2 | 24 | May 8, 2019 |
| TOPORS | 9 | Oct 15, 2019 |
| TP63 | 1 | Sep 1, 2021 |
| TPM1 | 21 | May 8, 2019 |
| TPM1-AS | 1 | Jan 15, 2016 |
| TPP1 | 2 | Jul 23, 2020 |
| TRIM63 | 5 | Jan 15, 2016 |
| TRIP11 | 1 | Sep 1, 2021 |
| TRPC6 | 1 | Jan 15, 2016 |
| TRPM1 | 7 | Oct 15, 2019 |
| TRPM1-AS1 | 2 | Oct 15, 2019 |
| TRPM4 | 11 | Jan 15, 2016 |
| TRPS1 | 5 | Sep 1, 2021 |
| TRPV4 | 7 | Sep 1, 2021 |
| TSC1 | 1 | Jul 23, 2020 |
| TSC2 | 1 | May 8, 2019 |
| TSFM | 2 | Jan 15, 2016 |
| TSPAN12 | 2 | Oct 15, 2019 |
| TTC21B | 6 | Sep 1, 2021 |
| TTC21B-AS1 | 1 | Oct 15, 2019 |
| TTC8 | 4 | Oct 15, 2019 |
| TTLL5 | 9 | Oct 15, 2019 |
| TTN | 117 | May 8, 2019 |
| TTN-AS1 | 75 | May 8, 2019 |
| TTR | 2 | May 8, 2019 |
| TUB | 1 | Oct 15, 2019 |
| TULP1 | 20 | Oct 15, 2019 |
| TXNRD2 | 10 | Jan 15, 2016 |
| TYK2 | 2 | May 8, 2019 |
| TYMP | 1 | Jan 15, 2016 |
| UBE3A | 3 | Jul 23, 2020 |
| UMOD | 1 | May 8, 2019 |
| UNC119 | 1 | May 8, 2019 |
| USH1C | 3 | Oct 15, 2019 |
| USH2A | 353 | Sep 2, 2022 |
| USH2A-AS1 | 25 | Oct 15, 2019 |
| USH2A-AS2 | 21 | Sep 2, 2022 |
| VCAN | 5 | Oct 15, 2019 |
| VCAN-AS1 | 2 | Oct 15, 2019 |
| VCL | 7 | May 8, 2019 |
| WDR19 | 9 | Oct 15, 2019 |
| WNT1 | 1 | Sep 1, 2021 |
| WNT5A | 2 | Sep 1, 2021 |
| WT1 | 4 | Jan 15, 2016 |
| XIAP | 2 | May 8, 2019 |
| XYLT1 | 1 | Sep 1, 2021 |
| ZAP70 | 4 | May 8, 2019 |
| ZDHHC24 | 8 | Oct 15, 2019 |
| ZEB2 | 1 | Jul 23, 2020 |
| ZFYVE26 | 13 | Oct 15, 2019 |
| ZNF408 | 1 | Oct 15, 2019 |
| ZNF454 | 6 | Oct 15, 2019 |
| ZNF513 | 2 | Oct 15, 2019 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3-M syndrome | 2 tests |
| AICA-ribosiduria | 1 test |
| Abnormality of neuronal migration | 1 test |
| Achromatopsia | 1 test |
| Acromesomelic dysplasia 1, Maroteaux type | 1 test |
| Acromesomelic dysplasia 2C, Hunter-Thompson type | 1 test |
| Acute pancreatitis | 1 test |
| Adams-Oliver syndrome | 2 tests |
| Adenine phosphoribosyltransferase deficiency | 1 test |
| Adenylosuccinate lyase deficiency | 1 test |
| Aganglionic megacolon | 2 tests |
| Aicardi Goutieres syndrome | 2 tests |
| Alpha-1-antitrypsin deficiency | 2 tests |
| Alport syndrome | 3 tests |
| Alstrom syndrome | 1 test |
| Alternating hemiplegia of childhood | 1 test |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 test |
| Amelogenesis imperfecta hypomaturation type 2A2 | 1 test |
| Amelogenesis imperfecta hypomaturation type 2A3 | 1 test |
| Amelogenesis imperfecta hypomaturation type 2A5 | 1 test |
| Amelogenesis imperfecta type 1E | 1 test |
| Amelogenesis imperfecta type 1H | 1 test |
| Amelogenesis imperfecta type 2A1 | 1 test |
| Amelogenesis imperfecta, hypomaturation type, IIa6 | 1 test |
| Amyotrophic lateral sclerosis | 1 test |
| Androgen resistance syndrome | 1 test |
| Anophthalmia | 1 test |
| Anterior segment anomalies with or without cataract | 1 test |
| Aortic aneurysm | 1 test |
| Arginase deficiency | 1 test |
| Arrhythmogenic right ventricular cardiomyopathy | 4 tests |
| Arterial tortuosity | 1 test |
| Arterial tortuosity syndrome | 1 test |
| Arteriohepatic dysplasia | 2 tests |
| Arthrogryposis, distal, type 1A | 1 test |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
| Ataxia-telangiectasia syndrome | 1 test |
| Atrial fibrillation | 1 test |
| Atrial septal defect | 1 test |
| Atypical hemolytic-uremic syndrome | 1 test |
| Autism spectrum disorder | 1 test |
| Autosomal dominant Robinow syndrome 1 | 1 test |
| Autosomal dominant polycystic kidney disease | 3 tests |
| Autosomal dominant polycystic liver disease | 1 test |
| Autosomal recessive polycystic kidney disease | 2 tests |
| Autosomal recessive spinocerebellar ataxia 10 | 1 test |
| Bardet-Biedl syndrome | 3 tests |
| Bartter syndrome | 2 tests |
| Bernard Soulier syndrome | 2 tests |
| Bethlem myopathy | 1 test |
| Bietti crystalline corneoretinal dystrophy | 1 test |
| Bilateral frontoparietal polymicrogyria | 1 test |
| Biotinidase deficiency | 1 test |
| Birt-Hogg-Dube syndrome | 3 tests |
| Bloom syndrome | 2 tests |
| Brachydactyly | 1 test |
| Branchiootorenal syndrome 1 | 3 tests |
| Brugada syndrome | 3 tests |
| Carcinoma of pancreas | 1 test |
| Cardiac arrhythmia | 1 test |
| Cardio-facio-cutaneous syndrome | 1 test |
| Cardiomyopathy | 1 test |
| Carney complex | 1 test |
| Cataract | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia | 3 tests |
| Cerebellar ataxia | 1 test |
| Cerebral cavernous malformation | 2 tests |
| Cerebral creatine deficiency syndrome | 2 tests |
| Charcot-Marie-Tooth disease | 1 test |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 test |
| Cholesteryl ester storage disease | 1 test |
| Chondrodysplasia punctata | 1 test |
| Choroideremia | 1 test |
| Chronic granulomatous disease | 1 test |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 test |
| Chronic pancreatitis | 1 test |
| Chédiak-Higashi syndrome | 1 test |
| Citrullinemia type II | 1 test |
| Cleft lip/palate | 1 test |
| Cobalamin deficiency | 1 test |
| Cockayne syndrome | 1 test |
| Coenzyme Q10 deficiency, primary, 1 | 1 test |
| Cohen syndrome | 1 test |
| Colorectal cancer | 1 test |
| Cone-rod dystrophy | 1 test |
| Congenital adrenal hyperplasia | 2 tests |
| Congenital central hypoventilation | 1 test |
| Congenital contractural arachnodactyly | 1 test |
| Congenital defect of folate absorption | 1 test |
| Congenital diarrhea 5 with tufting enteropathy | 1 test |
| Congenital disorder of deglycosylation | 1 test |
| Congenital disorder of glycosylation | 3 tests |
| Congenital generalized lipodystrophy | 3 tests |
| Congenital glucose-galactose malabsorption | 1 test |
| Congenital hepatic fibrosis | 1 test |
| Congenital hypothyroidism | 1 test |
| Congenital ichthyosiform erythroderma | 1 test |
| Congenital lactase deficiency | 1 test |
| Congenital microvillous atrophy | 1 test |
| Congenital muscular dystrophy | 1 test |
| Congenital myasthenic syndrome | 1 test |
| Congenital neutropenia | 1 test |
| Congenital secretory diarrhea, chloride type | 1 test |
| Congenital secretory sodium diarrhea 3 | 1 test |
| Congenital stationary night blindness | 1 test |
| Corneal dystrophy | 1 test |
| Costello syndrome | 1 test |
| Cranioectodermal dysplasia | 1 test |
| Craniometadiaphyseal dysplasia wormian bone type | 1 test |
| Craniosynostosis syndrome | 1 test |
| Crigler-Najjar syndrome type 1 | 1 test |
| Crigler-Najjar syndrome, type II | 1 test |
| Crouzon syndrome | 1 test |
| Cutis laxa | 2 tests |
| Cutis laxa, autosomal dominant 1 | 1 test |
| Cyclical neutropenia | 1 test |
| Cystic fibrosis | 4 tests |
| Cystinuria | 3 tests |
| De Lange syndrome | 2 tests |
| Deficiency of beta-ureidopropionase | 1 test |
| Deficiency of galactokinase | 2 tests |
| Dementia | 1 test |
| Dent disease | 1 test |
| Dentinogenesis imperfecta type 2 | 1 test |
| Diamond-Blackfan anemia | 3 tests |
| Diarrhea with Microvillus Atrophy | 1 test |
| Disorder of fatty acid metabolism | 1 test |
| Disorder of organic acid metabolism | 2 tests |
| Disorder of the urea cycle metabolism | 2 tests |
| Distal myopathy | 1 test |
| Dubin-Johnson syndrome | 1 test |
| Dyskeratosis congenita | 1 test |
| Dystonic disorder | 1 test |
| Ebstein anomaly | 1 test |
| Ectopia lentis | 1 test |
| Ehlers-Danlos syndrome | 2 tests |
| Elliptocytosis | 1 test |
| Ellis-van Creveld syndrome | 1 test |
| Emery-Dreifuss muscular dystrophy | 1 test |
| Epidermolysis bullosa | 1 test |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 test |
| Epileptic encephalopathy | 1 test |
| Fabry disease | 1 test |
| Familial Mediterranean fever | 1 test |
| Familial adenomatous polyposis 1 | 1 test |
| Familial amyloid nephropathy with urticaria AND deafness | 1 test |
| Familial cancer of breast | 1 test |
| Familial cold autoinflammatory syndrome 2 | 1 test |
| Familial cold autoinflammatory syndrome 3 | 1 test |
| Familial hemiplegic migraine | 1 test |
| Familial hemophagocytic lymphohistiocytosis | 1 test |
| Familial hyperinsulinism | 1 test |
| Familial hypokalemia-hypomagnesemia | 1 test |
| Familial medullary thyroid carcinoma | 1 test |
| Familial pancreatic carcinoma | 1 test |
| Familial partial lipodystrophy | 2 tests |
| Familial thoracic aortic aneurysm and aortic dissection | 1 test |
| Fanconi anemia | 4 tests |
| Female pseudohermaphroditism | 1 test |
| Fluorouracil response | 1 test |
| Focal epilepsy | 2 tests |
| Frontotemporal dementia | 1 test |
| Galactosemia | 2 tests |
| Ganglioneuroma | 1 test |
| Gaucher disease | 1 test |
| Generalized epilepsy | 2 tests |
| Generalized juvenile polyposis/juvenile polyposis coli | 1 test |
| Genetic predisposition | 4 tests |
| Gilbert syndrome | 1 test |
| Glanzmann thrombasthenia | 2 tests |
| Glaucoma | 1 test |
| Glomuvenous malformation | 1 test |
| Glucocorticoid deficiency 1 | 1 test |
| Glycine encephalopathy | 2 tests |
| Glycogen storage disease | 4 tests |
| Glycogen storage disease, type II | 1 test |
| Gorlin syndrome | 1 test |
| Gray platelet syndrome | 1 test |
| Grebe syndrome | 1 test |
| Griscelli syndrome | 1 test |
| Growth abnormality | 1 test |
| Haddad syndrome | 1 test |
| Hemochromatosis type 1 | 1 test |
| Hemochromatosis type 2A | 1 test |
| Hemochromatosis type 2B | 1 test |
| Hemochromatosis type 3 | 1 test |
| Hemochromatosis type 4 | 1 test |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 test |
| Hemolytic-uremic syndrome | 1 test |
| Hemophilia | 1 test |
| Hereditary acrodermatitis enteropathica | 1 test |
| Hereditary breast ovarian cancer syndrome | 1 test |
| Hereditary cancer-predisposing syndrome | 1 test |
| Hereditary cryohydrocytosis with reduced stomatin | 1 test |
| Hereditary diffuse gastric adenocarcinoma | 1 test |
| Hereditary disease | 4 tests |
| Hereditary episodic ataxia | 1 test |
| Hereditary factor IX deficiency disease | 1 test |
| Hereditary factor VIII deficiency disease | 1 test |
| Hereditary fructosuria | 2 tests |
| Hereditary hemochromatosis | 2 tests |
| Hereditary hemorrhagic telangiectasia type 3 | 1 test |
| Hereditary leiomyomatosis and renal cell cancer | 1 test |
| Hereditary palmoplantar keratoderma | 1 test |
| Hereditary pheochromocytoma-paraganglioma | 3 tests |
| Hereditary pulmonary alveolar proteinosis | 1 test |
| Hereditary spherocytosis | 1 test |
| Hereditary von Willebrand disease | 1 test |
| Hereditary xanthinuria type 1 | 1 test |
| Hermansky-Pudlak syndrome | 4 tests |
| Hidrotic ectodermal dysplasia syndrome | 1 test |
| Holoprosencephaly sequence | 1 test |
| Holt-Oram syndrome | 1 test |
| Homocystinuria | 2 tests |
| Hoyeraal-Hreidarsson syndrome | 1 test |
| Hurler syndrome | 1 test |
| Hutchinson-Gilford syndrome | 1 test |
| Hypercholesterolemia, familial, 1 | 2 tests |
| Hyperimmunoglobulin D with periodic fever | 1 test |
| Hyperoxaluria | 2 tests |
| Hyperparathyroidism | 1 test |
| Hyperphenylalaninemia | 1 test |
| Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | 1 test |
| Hypertrophic cardiomyopathy | 3 tests |
| Hypogonadism with anosmia | 1 test |
| Hypohidrotic ectodermal dysplasia | 1 test |
| Hypomagnesemia, seizures, and intellectual disability 1 | 1 test |
| Hypophosphatasia | 1 test |
| Hypophosphatemic rickets | 2 tests |
| Hypoplastic left heart syndrome 1 | 1 test |
| Infantile onset spinocerebellar ataxia | 1 test |
| Infertility disorder | 1 test |
| Inherited bone marrow failure syndrome | 2 tests |
| Interstitial lung disease 2 | 2 tests |
| Intestinal atresia | 1 test |
| Intestinal hypomagnesemia 1 | 1 test |
| Jawad syndrome | 1 test |
| Jeune thoracic dystrophy | 1 test |
| Joubert syndrome | 3 tests |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 test |
| Juvenile hemochromatosis | 1 test |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 test |
| Juvenile retinoschisis | 1 test |
| Kabuki syndrome | 1 test |
| Lafora disease | 1 test |
| Lamellar ichthyosis | 1 test |
| Leber congenital amaurosis | 1 test |
| Left ventricular noncompaction | 3 tests |
| Lesch-Nyhan syndrome | 1 test |
| Leukemia | 2 tests |
| Leukodystrophy | 1 test |
| Leukoencephalopathy | 1 test |
| Li-Fraumeni syndrome | 3 tests |
| Liddle syndrome 1 | 1 test |
| Limb-girdle muscular dystrophy | 1 test |
| Lissencephaly | 1 test |
| Loeys-Dietz syndrome | 1 test |
| Long QT syndrome | 3 tests |
| Lung carcinoma | 1 test |
| Lymphangiomyomatosis | 1 test |
| Lymphatic malformation | 1 test |
| Lymphoproliferative disorder | 1 test |
| Lynch syndrome | 2 tests |
| Macrocephaly | 1 test |
| Macular dystrophy | 1 test |
| Male pseudohermaphroditism | 1 test |
| Maple syrup urine disease | 1 test |
| Marfan syndrome | 1 test |
| Maturity onset diabetes mellitus in young | 1 test |
| Meckel-Gruber syndrome | 2 tests |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 test |
| Medulloblastoma | 1 test |
| Meier-Gorlin syndrome | 3 tests |
| Melanoma | 1 test |
| Metabolic myopathy | 1 test |
| Metaphyseal anadysplasia 2 | 1 test |
| Metaphyseal chondrodysplasia | 1 test |
| Metaphyseal chondrodysplasia, Schmid type | 1 test |
| Methylmalonic acidemia | 1 test |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 test |
| Microcephalic osteodysplastic primordial dwarfism, type 3 | 1 test |
| Microcephaly | 1 test |
| Microcephaly, normal intelligence and immunodeficiency | 1 test |
| Microcephaly-capillary malformation syndrome | 1 test |
| Microphthalmia | 1 test |
| Miller syndrome | 1 test |
| Mitochondrial DNA depletion syndrome 1 | 1 test |
| Mitochondrial DNA depletion syndrome 11 | 1 test |
| Mitochondrial DNA depletion syndrome 13 | 1 test |
| Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 1 test |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 test |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 test |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 test |
| Mitochondrial DNA depletion syndrome, myopathic form | 1 test |
| Mucolipidosis type II | 1 test |
| Mucolipidosis type IV | 1 test |
| Mucopolysaccharidosis | 1 test |
| Multiple acyl-CoA dehydrogenase deficiency | 1 test |
| Multiple congenital exostosis | 1 test |
| Multiple endocrine neoplasia | 3 tests |
| Muscle AMP deaminase deficiency | 1 test |
| Muscular dystrophy | 1 test |
| Nemaline myopathy | 1 test |
| Neonatal diabetes mellitus | 1 test |
| Neoplasm of the skin | 1 test |
| Nephrogenic diabetes insipidus | 1 test |
| Nephrolithiasis/nephrocalcinosis | 1 test |
| Nephronophthisis | 1 test |
| Nephrotic syndrome | 1 test |
| Neuroblastoma | 1 test |
| Neurofibroma | 1 test |
| Neurofibromatosis, type 1 | 1 test |
| Neurofibromatosis, type 2 | 1 test |
| Neuronal ceroid lipofuscinosis | 1 test |
| Niemann-Pick disease, type A | 2 tests |
| Niemann-Pick disease, type B | 2 tests |
| Niemann-Pick disease, type C | 2 tests |
| Niemann-Pick disease, type D | 1 test |
| Non-syndromic X-linked intellectual disability | 1 test |
| Nonsyndromic genetic hearing loss | 2 tests |
| Noonan syndrome | 3 tests |
| Noonan syndrome with multiple lentigines | 1 test |
| Nystagmus | 1 test |
| Obesity | 1 test |
| Oculocutaneous albinism | 1 test |
| Olmsted syndrome 1 | 1 test |
| Optic atrophy | 2 tests |
| Ornithine carbamoyltransferase deficiency | 1 test |
| Oroticaciduria | 1 test |
| Osteodysplastic primordial dwarfism, type 1 | 1 test |
| Osteogenesis imperfecta | 1 test |
| Osteopetrosis | 1 test |
| POLG-related disorder | 1 test |
| Pachyonychia congenita syndrome | 2 tests |
| Palmoplantar keratoderma, punctate type 1A | 1 test |
| Papillary renal cell carcinoma type 1 | 1 test |
| Parkinson disease | 1 test |
| Paroxysmal atrial fibrillation | 1 test |
| Pendred syndrome | 3 tests |
| Periodic paralysis | 1 test |
| Permanent atrial fibrillation | 1 test |
| Peroxisome biogenesis disorder 1A (Zellweger) | 2 tests |
| Peroxisome biogenesis disorder 2B | 1 test |
| Peroxisome biogenesis disorder type 3B | 1 test |
| Peutz-Jeghers syndrome | 2 tests |
| Phenylketonuria | 2 tests |
| Pontoneocerebellar hypoplasia | 1 test |
| Porphyria | 1 test |
| Premature ovarian failure | 1 test |
| Primary ciliary dyskinesia | 5 tests |
| Primary dilated cardiomyopathy | 3 tests |
| Primary hypomagnesemia | 1 test |
| Progressive external ophthalmoplegia | 1 test |
| Progressive familial intrahepatic cholestasis type 1 | 1 test |
| Progressive myoclonic epilepsy | 2 tests |
| Progressive sclerosing poliodystrophy | 1 test |
| Prolactin-producing pituitary gland adenoma | 1 test |
| Propionic acidemia | 1 test |
| Pseudo-Hurler polydystrophy | 1 test |
| Pseudohypoaldosteronism | 1 test |
| Pulmonary artery stenosis | 1 test |
| Pulmonary venoocclusive disease 1 | 1 test |
| Purine-nucleoside phosphorylase deficiency | 1 test |
| Pyle metaphyseal dysplasia | 1 test |
| Pyridoxine-dependent epilepsy | 1 test |
| Renal cyst | 4 tests |
| Renal dysplasia and retinal aplasia | 2 tests |
| Renal hypomagnesemia 2 | 1 test |
| Renal hypomagnesemia 4 | 1 test |
| Renal hypomagnesemia 5 with ocular involvement | 1 test |
| Renal hypomagnesemia 6 | 1 test |
| Renal tubular acidosis | 1 test |
| Renal tubular dysgenesis | 1 test |
| Respiratory distress syndrome in premature infants | 1 test |
| Restrictive cardiomyopathy | 3 tests |
| Retinal dystrophy | 1 test |
| Retinitis pigmentosa | 1 test |
| Retinitis pigmentosa-deafness syndrome | 3 tests |
| Retinoblastoma | 2 tests |
| Revesz syndrome | 1 test |
| Rhabdomyolysis | 1 test |
| Rhizomelic chondrodysplasia punctata | 1 test |
| Rothmund-Thomson syndrome | 1 test |
| Seckel syndrome | 3 tests |
| Sensorineural hearing loss disorder | 2 tests |
| Septo-optic dysplasia sequence | 1 test |
| Severe combined immunodeficiency disease | 2 tests |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 test |
| Severe short stature | 1 test |
| Short QT syndrome | 3 tests |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 test |
| Shprintzen-Goldberg syndrome | 1 test |
| Sialidosis type 2 | 1 test |
| Sialuria | 1 test |
| Simpson-Golabi-Behmel syndrome type 1 | 1 test |
| Sitosterolemia | 1 test |
| Skeletal dysplasia | 3 tests |
| Spastic paraplegia | 1 test |
| Spinal muscular atrophy | 1 test |
| Split hand-foot malformation 1 with sensorineural hearing loss | 1 test |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 test |
| Stickler syndrome | 3 tests |
| Stomatocytosis | 1 test |
| Succinate-semialdehyde dehydrogenase deficiency | 1 test |
| Sucrase-isomaltase deficiency | 1 test |
| Sudden cardiac death | 2 tests |
| Supravalvar aortic stenosis | 1 test |
| Syndactyly | 1 test |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 test |
| Telangiectasia, hereditary hemorrhagic, type 1 | 2 tests |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 test |
| Tetralogy of Fallot | 1 test |
| Thiopurine S-methyltransferase deficiency | 1 test |
| Thrombocytopenia | 1 test |
| Thyroid hormone resistance syndrome | 1 test |
| Trichohepatoenteric syndrome | 1 test |
| Tuberous sclerosis syndrome | 4 tests |
| Tyrosinemia type I | 2 tests |
| Tyrosinemia type II | 1 test |
| Tyrosinemia type III | 1 test |
| UDPglucose-4-epimerase deficiency | 2 tests |
| Ullrich congenital muscular dystrophy | 1 test |
| Ventricular septal defect | 1 test |
| Visceral heterotaxy | 1 test |
| Vitreoretinopathy | 1 test |
| Von Hippel-Lindau syndrome | 4 tests |
| Waardenburg syndrome | 4 tests |
| Weill-Marchesani syndrome | 1 test |
| Werner syndrome | 1 test |
| Wilms tumor 1 | 1 test |
| Wilson disease | 1 test |
| Wiskott-Aldrich syndrome | 1 test |
| Wolman disease | 1 test |
| Xanthinuria type II | 1 test |
| Xeroderma pigmentosum | 1 test |
| von Willebrand disease type 1 | 1 test |