PreventionGenetics (PreventionGenetics)
General information
PreventionGenetics
PreventionGenetics
3800 S Business Park Ave
Marshfield
Wisconsin
United States - 54449
https://www.preventiongenetics.com/
Organization ID: 239772
PreventionGenetics
3800 S Business Park Ave
Marshfield
Wisconsin
United States - 54449
https://www.preventiongenetics.com/
Organization ID: 239772
Personnel
- Chris Heilala, Informatics staff
Phone: 7153870484
Email: chris.heilala@preventiongenetics.com - Julie Rath, Contact
Phone: 7153870484x263
Email: julie.rath@preventiongenetics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 18417
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA12 | 15 | Apr 28, 2016 |
| ABCA4 | 42 | Apr 28, 2016 |
| ABCB11 | 21 | Apr 28, 2016 |
| ABCB4 | 16 | Apr 28, 2016 |
| ABCC2 | 3 | Apr 28, 2016 |
| ABCC8 | 32 | Apr 28, 2016 |
| ABCC9 | 13 | Apr 28, 2016 |
| ABCD1 | 4 | Apr 28, 2016 |
| ABCD3 | 2 | Apr 28, 2016 |
| ABCD4 | 4 | Apr 28, 2016 |
| ABHD14A-ACY1 | 4 | Apr 28, 2016 |
| ACADM | 12 | Apr 28, 2016 |
| ACADS | 6 | Apr 28, 2016 |
| ACADVL | 19 | Apr 28, 2016 |
| ACBD5 | 3 | Apr 28, 2016 |
| ACBD6 | 2 | Apr 28, 2016 |
| ACE | 12 | Apr 28, 2016 |
| ACO2 | 7 | Apr 28, 2016 |
| ACOX1 | 4 | Apr 28, 2016 |
| ACP5 | 3 | Apr 28, 2016 |
| ACTA1 | 13 | Apr 28, 2016 |
| ACTA2 | 3 | Apr 28, 2016 |
| ACTC1 | 3 | Apr 28, 2016 |
| ACTN2 | 5 | Apr 28, 2016 |
| ACTN4 | 19 | Apr 28, 2016 |
| ACVR1 | 3 | Apr 28, 2016 |
| ACVR2B | 10 | Apr 28, 2016 |
| ACVRL1 | 10 | Apr 28, 2016 |
| ACY1 | 4 | Apr 28, 2016 |
| ADA | 3 | Apr 28, 2016 |
| ADAM9 | 3 | Apr 28, 2016 |
| ADAMTS13 | 32 | Apr 28, 2016 |
| ADAMTSL4 | 6 | Apr 28, 2016 |
| ADAMTSL4-AS2 | 3 | Apr 28, 2016 |
| ADAR | 5 | Apr 28, 2016 |
| ADGRG1 | 16 | Apr 28, 2016 |
| ADGRV1 | 37 | Apr 28, 2016 |
| ADNP-AS1 | 1 | Apr 28, 2016 |
| ADSL | 3 | Apr 28, 2016 |
| AGA | 3 | Apr 28, 2016 |
| AGL | 38 | Apr 28, 2016 |
| AGPAT2 | 6 | Apr 28, 2016 |
| AGPS | 3 | Apr 28, 2016 |
| AGRN | 81 | Apr 28, 2016 |
| AGT | 2 | Apr 28, 2016 |
| AGTR1 | 2 | Apr 28, 2016 |
| AGXT | 12 | Apr 28, 2016 |
| AHI1 | 47 | Apr 28, 2016 |
| AICDA | 2 | Apr 28, 2016 |
| AIP | 3 | Apr 28, 2016 |
| AIPL1 | 8 | Apr 28, 2016 |
| AIRE | 10 | Apr 28, 2016 |
| AKAP9 | 14 | Apr 28, 2016 |
| AKR1D1 | 4 | Apr 28, 2016 |
| ALAS2 | 1 | Apr 28, 2016 |
| ALDH18A1 | 5 | Apr 28, 2016 |
| ALDH1A3 | 3 | Apr 28, 2016 |
| ALDH1A3-AS1 | 3 | Apr 28, 2016 |
| ALDH7A1 | 6 | Apr 28, 2016 |
| ALDOB | 4 | Apr 28, 2016 |
| ALG12 | 8 | Apr 28, 2016 |
| ALG2 | 3 | Apr 28, 2016 |
| ALG3 | 2 | Apr 28, 2016 |
| ALG6 | 2 | Apr 28, 2016 |
| ALG8 | 9 | Apr 28, 2016 |
| ALK | 15 | Apr 28, 2016 |
| ALMS1 | 12 | Apr 28, 2016 |
| ALOX12B | 1 | Apr 28, 2016 |
| ALOXE3 | 4 | Apr 28, 2016 |
| ALPL | 16 | Apr 28, 2016 |
| ALS2 | 16 | Apr 28, 2016 |
| ALX3 | 1 | Apr 28, 2016 |
| AMELX | 1 | Apr 28, 2016 |
| AMT | 2 | Apr 28, 2016 |
| ANG | 1 | Apr 28, 2016 |
| ANK1 | 34 | Apr 28, 2016 |
| ANK2 | 13 | Apr 28, 2016 |
| ANKIB1 | 2 | Oct 12, 2018 |
| ANKRD1 | 1 | Apr 28, 2016 |
| ANKRD26 | 21 | Apr 28, 2016 |
| ANKS6 | 24 | Apr 28, 2016 |
| ANLN | 4 | Apr 28, 2016 |
| ANO10 | 2 | Apr 28, 2016 |
| ANO5 | 21 | Apr 28, 2016 |
| ANO6 | 10 | Apr 28, 2016 |
| ANOS1 | 2 | Apr 28, 2016 |
| ANTXR1 | 1 | Apr 28, 2016 |
| AOPEP | 4 | Apr 28, 2016 |
| AP2S1 | 1 | Apr 28, 2016 |
| AP3B1 | 10 | Apr 28, 2016 |
| APC | 135 | Jan 29, 2018 |
| APOB | 35 | Apr 28, 2016 |
| APRT | 1 | Apr 28, 2016 |
| APTX | 2 | Apr 28, 2016 |
| AQP2 | 4 | Apr 28, 2016 |
| AR | 3 | Apr 28, 2016 |
| ARFGEF2 | 8 | Apr 28, 2016 |
| ARG1 | 1 | Apr 28, 2016 |
| ARHGAP6 | 1 | Apr 28, 2016 |
| ARHGEF28 | 24 | Apr 28, 2016 |
| ARL13B | 6 | Apr 28, 2016 |
| ARL6 | 4 | Apr 28, 2016 |
| ARSA | 11 | Apr 28, 2016 |
| ARSB | 8 | Apr 28, 2016 |
| ARSL | 8 | Apr 28, 2016 |
| ARVCF | 1 | Apr 28, 2016 |
| ARX | 2 | Apr 28, 2016 |
| ASAH1 | 11 | Apr 28, 2016 |
| ASCL1 | 7 | Apr 28, 2016 |
| ASL | 3 | Apr 28, 2016 |
| ASPA | 2 | Apr 28, 2016 |
| ASPM | 19 | Apr 28, 2016 |
| ASS1 | 14 | Apr 28, 2016 |
| ASTN2 | 4 | Apr 28, 2016 |
| ATM | 164 | Jan 29, 2018 |
| ATP13A2 | 15 | Apr 28, 2016 |
| ATP1A2 | 8 | Apr 28, 2016 |
| ATP6V0A2 | 7 | Apr 28, 2016 |
| ATP6V0A4 | 7 | Apr 28, 2016 |
| ATP6V1B1 | 3 | Apr 28, 2016 |
| ATP6V1B1-AS1 | 1 | Apr 28, 2016 |
| ATP7A | 6 | Apr 28, 2016 |
| ATP7B | 36 | Apr 28, 2016 |
| ATP8B1 | 15 | Apr 28, 2016 |
| ATRIP | 2 | Apr 28, 2016 |
| ATRIP-TREX1 | 2 | Apr 28, 2016 |
| ATRX | 2 | Apr 28, 2016 |
| AUH | 4 | Apr 28, 2016 |
| AVPR2 | 6 | Apr 28, 2016 |
| AXDND1 | 3 | Apr 28, 2016 |
| AXIN2 | 9 | Apr 28, 2016 |
| B3GALNT2 | 4 | Apr 28, 2016 |
| B3GLCT | 6 | Apr 28, 2016 |
| B3GNT4 | 1 | Apr 28, 2016 |
| B4GAT1 | 2 | Apr 28, 2016 |
| B9D1 | 6 | Apr 28, 2016 |
| B9D2 | 6 | Apr 28, 2016 |
| BAAT | 4 | Apr 28, 2016 |
| BAG3 | 15 | Apr 28, 2016 |
| BAP1 | 8 | Apr 28, 2016 |
| BARD1 | 40 | Jan 29, 2018 |
| BBS1 | 13 | Apr 28, 2016 |
| BBS10 | 10 | Apr 28, 2016 |
| BBS12 | 18 | Apr 28, 2016 |
| BBS2 | 12 | Apr 28, 2016 |
| BBS4 | 19 | Apr 28, 2016 |
| BBS5 | 8 | Apr 28, 2016 |
| BBS7 | 7 | Apr 28, 2016 |
| BBS9 | 27 | Apr 28, 2016 |
| BCHE | 1 | Apr 28, 2016 |
| BCKDHA | 12 | Apr 28, 2016 |
| BCKDHB | 5 | Apr 28, 2016 |
| BCKDK | 3 | Apr 28, 2016 |
| BCOR | 5 | Apr 28, 2016 |
| BDNF | 1 | Apr 28, 2016 |
| BDNF-AS | 1 | Apr 28, 2016 |
| BDNF-AS1 | 1 | Apr 28, 2016 |
| BEST1 | 6 | Apr 28, 2016 |
| BFSP1 | 6 | Apr 28, 2016 |
| BFSP2 | 1 | Apr 28, 2016 |
| BFSP2-AS1 | 1 | Apr 28, 2016 |
| BIN1 | 25 | Apr 28, 2016 |
| BIVM-ERCC5 | 8 | Apr 28, 2016 |
| BLK | 11 | Apr 28, 2016 |
| BLM | 15 | Apr 28, 2016 |
| BLOC1S1-RDH5 | 3 | Apr 28, 2016 |
| BLOC1S3 | 4 | Apr 28, 2016 |
| BMP1 | 1 | Apr 28, 2016 |
| BMP15 | 7 | Apr 28, 2016 |
| BMP2 | 5 | Apr 28, 2016 |
| BMP4 | 1 | Apr 28, 2016 |
| BMPR1A | 19 | Jan 29, 2018 |
| BMPR2 | 5 | Apr 28, 2016 |
| BRAF | 17 | Apr 28, 2016 |
| BRCA1 | 104 | Jan 29, 2018 |
| BRCA2 | 183 | Jan 29, 2018 |
| BRIP1 | 45 | Jan 29, 2018 |
| BSCL2 | 6 | Apr 28, 2016 |
| BSND | 5 | Apr 28, 2016 |
| BTD | 2 | Apr 28, 2016 |
| BTK | 1 | Apr 28, 2016 |
| BUB1B | 11 | Apr 28, 2016 |
| BUB1B-PAK6 | 2 | Apr 28, 2016 |
| C10orf105 | 3 | Apr 28, 2016 |
| C11orf65 | 46 | Jan 29, 2018 |
| C12orf29 | 3 | Apr 28, 2016 |
| C17orf107 | 13 | Apr 28, 2016 |
| C1QTNF5 | 6 | Apr 28, 2016 |
| CA2 | 1 | Apr 28, 2016 |
| CABP4 | 2 | Apr 28, 2016 |
| CACNA1A | 17 | Apr 28, 2016 |
| CACNA1C | 16 | Apr 28, 2016 |
| CACNA1C-AS1 | 4 | Apr 28, 2016 |
| CACNA1F | 4 | Apr 28, 2016 |
| CACNA1S | 72 | Apr 28, 2016 |
| CACNA2D1 | 3 | Apr 28, 2016 |
| CACNA2D4 | 19 | Apr 28, 2016 |
| CACNB2 | 6 | Apr 28, 2016 |
| CAPN3 | 41 | Apr 28, 2016 |
| CAPN5 | 2 | Apr 28, 2016 |
| CASD1 | 4 | Apr 28, 2016 |
| CASQ2 | 8 | Apr 28, 2016 |
| CASR | 13 | Apr 28, 2016 |
| CATIP-AS2 | 6 | Apr 28, 2016 |
| CAV3 | 10 | Apr 28, 2016 |
| CBL | 14 | Apr 28, 2016 |
| CBS | 3 | Apr 28, 2016 |
| CC2D2A | 42 | Apr 28, 2016 |
| CCBE1 | 9 | Apr 28, 2016 |
| CCDC103 | 4 | Apr 28, 2016 |
| CCDC39 | 38 | Apr 28, 2016 |
| CCDC40 | 74 | Apr 28, 2016 |
| CCDC50 | 15 | Apr 28, 2016 |
| CCDC65 | 2 | Apr 28, 2016 |
| CCDC78 | 15 | Apr 28, 2016 |
| CCDC8 | 2 | Apr 28, 2016 |
| CCM2 | 45 | Oct 12, 2018 |
| CCNO | 1 | Apr 28, 2016 |
| CD2AP | 14 | Apr 28, 2016 |
| CDAN1 | 17 | Apr 28, 2016 |
| CDC6 | 4 | Apr 28, 2016 |
| CDC73 | 3 | Apr 28, 2016 |
| CDCA7L | 6 | Apr 28, 2016 |
| CDH1 | 63 | Jan 29, 2018 |
| CDH13 | 10 | Apr 28, 2016 |
| CDH23 | 49 | Apr 28, 2016 |
| CDH23-AS1 | 5 | Apr 28, 2016 |
| CDHR1 | 13 | Apr 28, 2016 |
| CDIN1 | 5 | Apr 28, 2016 |
| CDK4 | 9 | Jan 29, 2018 |
| CDK5RAP2 | 9 | Apr 28, 2016 |
| CDKL5 | 7 | Apr 28, 2016 |
| CDKN1B | 3 | Apr 28, 2016 |
| CDKN1C | 10 | Apr 28, 2016 |
| CDKN2A | 24 | Dec 5, 2019 |
| CDON | 28 | Apr 28, 2016 |
| CDT1 | 9 | Apr 28, 2016 |
| CEACAM16 | 6 | Apr 28, 2016 |
| CEBPA | 2 | Apr 28, 2016 |
| CENPJ | 10 | Apr 28, 2016 |
| CEP128 | 2 | Apr 28, 2016 |
| CEP152 | 5 | Apr 28, 2016 |
| CEP164 | 18 | Apr 28, 2016 |
| CEP290 | 68 | Dec 23, 2019 |
| CEP41 | 4 | Apr 28, 2016 |
| CERKL | 7 | Apr 28, 2016 |
| CERS1 | 7 | Apr 28, 2016 |
| CFAP410 | 5 | Apr 28, 2016 |
| CFAP53 | 13 | Apr 28, 2016 |
| CFL2 | 2 | Apr 28, 2016 |
| CFTR | 40 | Apr 28, 2016 |
| CFTR-AS1 | 8 | Apr 28, 2016 |
| CHAT | 29 | Apr 28, 2016 |
| CHD2 | 13 | Apr 28, 2016 |
| CHD7 | 62 | Apr 28, 2016 |
| CHEK2 | 29 | Nov 12, 2020 |
| CHKB | 5 | Apr 28, 2016 |
| CHKB-CPT1B | 5 | Apr 28, 2016 |
| CHM | 1 | Apr 28, 2016 |
| CHMP2B | 4 | Apr 28, 2016 |
| CHMP4B | 2 | Apr 28, 2016 |
| CHPT1 | 1 | Apr 28, 2016 |
| CHRDL1 | 1 | Apr 28, 2016 |
| CHRNA1 | 14 | Apr 28, 2016 |
| CHRNA4 | 12 | Apr 28, 2016 |
| CHRNB1 | 13 | Apr 28, 2016 |
| CHRNB2 | 4 | Apr 28, 2016 |
| CHRND | 12 | Apr 28, 2016 |
| CHRNE | 30 | Apr 28, 2016 |
| CHRNG | 13 | Apr 28, 2016 |
| CHST14 | 2 | Apr 28, 2016 |
| CIB2 | 6 | Apr 28, 2016 |
| CLCN7 | 14 | Apr 28, 2016 |
| CLDN1 | 5 | Apr 28, 2016 |
| CLDN14 | 7 | Apr 28, 2016 |
| CLDN16 | 6 | Apr 28, 2016 |
| CLN3 | 2 | Apr 28, 2016 |
| CLN5 | 8 | Apr 28, 2016 |
| CLN6 | 4 | Apr 28, 2016 |
| CLN8 | 2 | Apr 28, 2016 |
| CLRN1 | 2 | Apr 28, 2016 |
| CNGA3 | 4 | Apr 28, 2016 |
| CNGB1 | 4 | Apr 28, 2016 |
| CNGB3 | 17 | Apr 28, 2016 |
| CNNM4 | 1 | Apr 28, 2016 |
| CNTN1 | 21 | Apr 28, 2016 |
| CNTNAP2 | 22 | Apr 28, 2016 |
| COCH | 2 | Apr 28, 2016 |
| COG4 | 2 | Apr 28, 2016 |
| COL10A1 | 4 | Apr 28, 2016 |
| COL11A1 | 44 | Apr 28, 2016 |
| COL11A2 | 30 | Apr 28, 2016 |
| COL12A1 | 41 | Apr 28, 2016 |
| COL17A1 | 14 | Apr 28, 2016 |
| COL18A1 | 37 | Apr 28, 2016 |
| COL1A1 | 9 | Apr 28, 2016 |
| COL1A2 | 8 | Apr 28, 2016 |
| COL2A1 | 48 | Apr 28, 2016 |
| COL3A1 | 40 | Apr 28, 2016 |
| COL4A1 | 26 | Apr 28, 2016 |
| COL4A2 | 1 | Apr 28, 2016 |
| COL4A3 | 37 | Apr 28, 2016 |
| COL4A4 | 37 | Apr 28, 2016 |
| COL4A5 | 12 | Apr 28, 2016 |
| COL4A6 | 15 | Apr 28, 2016 |
| COL5A1 | 127 | Feb 20, 2020 |
| COL5A2 | 50 | Apr 28, 2016 |
| COL6A1 | 96 | Apr 28, 2016 |
| COL6A2 | 78 | Apr 28, 2016 |
| COL6A3 | 117 | Dec 20, 2016 |
| COL7A1 | 14 | Apr 28, 2016 |
| COL9A1 | 33 | Apr 28, 2016 |
| COL9A2 | 41 | Apr 28, 2016 |
| COL9A3 | 46 | Apr 28, 2016 |
| COLQ | 19 | Apr 28, 2016 |
| COMP | 11 | Apr 28, 2016 |
| COMT | 4 | Apr 28, 2016 |
| COQ2 | 12 | Apr 28, 2016 |
| CP | 2 | Apr 28, 2016 |
| CPA1 | 4 | Apr 28, 2016 |
| CPLANE1 | 52 | Apr 28, 2016 |
| CPS1 | 17 | Apr 28, 2016 |
| CRB1 | 4 | Apr 28, 2016 |
| CREBBP | 16 | Apr 28, 2016 |
| CRPPA | 12 | Apr 28, 2016 |
| CRPPA-AS1 | 5 | Apr 28, 2016 |
| CRTAP | 2 | Apr 28, 2016 |
| CRX | 2 | Apr 28, 2016 |
| CRYAA | 3 | Apr 28, 2016 |
| CRYAB | 2 | Apr 28, 2016 |
| CRYBA1 | 4 | Apr 28, 2016 |
| CRYBA4 | 5 | Apr 28, 2016 |
| CRYBB2 | 3 | Apr 28, 2016 |
| CRYBB3 | 3 | Apr 28, 2016 |
| CRYGD | 5 | Apr 28, 2016 |
| CRYM | 4 | Apr 28, 2016 |
| CSF3R | 11 | Apr 28, 2016 |
| CSRP3 | 3 | Apr 28, 2016 |
| CSTB | 2 | Apr 28, 2016 |
| CTC1 | 3 | Apr 28, 2016 |
| CTDP1 | 5 | Apr 28, 2016 |
| CTNS | 7 | Apr 28, 2016 |
| CTRC | 5 | Apr 28, 2016 |
| CTSC | 5 | Apr 28, 2016 |
| CTSD | 8 | Apr 28, 2016 |
| CTSF | 9 | Apr 28, 2016 |
| CUL3 | 3 | Apr 28, 2016 |
| CUL7 | 9 | Apr 28, 2016 |
| CXCR4 | 1 | Apr 28, 2016 |
| CYB5R3 | 3 | Apr 28, 2016 |
| CYBA | 5 | Apr 28, 2016 |
| CYBB | 1 | Apr 28, 2016 |
| CYCS | 1 | Apr 28, 2016 |
| CYP1B1 | 7 | Apr 28, 2016 |
| CYP21A2 | 29 | Apr 28, 2016 |
| CYP27A1 | 4 | Apr 28, 2016 |
| CYP4F22 | 1 | Apr 28, 2016 |
| CYP4V2 | 5 | Apr 28, 2016 |
| DAG1 | 11 | Apr 28, 2016 |
| DBT | 5 | Apr 28, 2016 |
| DCHS1 | 7 | Apr 28, 2016 |
| DCLRE1C | 4 | Apr 28, 2016 |
| DCTN1 | 11 | Apr 28, 2016 |
| DCX | 3 | Apr 28, 2016 |
| DDR2 | 8 | Apr 28, 2016 |
| DEPDC5 | 13 | Apr 28, 2016 |
| DES | 16 | Apr 28, 2016 |
| DGKE | 1 | Apr 28, 2016 |
| DGUOK | 2 | Apr 28, 2016 |
| DGUOK-AS1 | 1 | Apr 28, 2016 |
| DHCR7 | 13 | Apr 28, 2016 |
| DHODH | 4 | Apr 28, 2016 |
| DIABLO | 2 | Apr 28, 2016 |
| DIAPH1 | 7 | Apr 28, 2016 |
| DICER1 | 116 | Apr 22, 2019 |
| DIS3L2 | 3 | Apr 28, 2016 |
| DISP1 | 5 | Apr 28, 2016 |
| DKC1 | 2 | Apr 28, 2016 |
| DLD | 3 | Apr 28, 2016 |
| DLG4 | 1 | Apr 28, 2016 |
| DLL3 | 12 | Apr 28, 2016 |
| DLX3 | 2 | Apr 28, 2016 |
| DMD | 36 | Apr 28, 2016 |
| DNA2 | 6 | Apr 28, 2016 |
| DNAAF1 | 50 | Apr 28, 2016 |
| DNAAF11 | 12 | Apr 28, 2016 |
| DNAAF2 | 27 | Apr 28, 2016 |
| DNAAF3 | 27 | Apr 28, 2016 |
| DNAAF4 | 4 | Apr 28, 2016 |
| DNAAF4-CCPG1 | 4 | Apr 28, 2016 |
| DNAAF5 | 30 | Apr 28, 2016 |
| DNAH11 | 204 | Apr 28, 2016 |
| DNAH5 | 187 | Apr 28, 2016 |
| DNAH8 | 6 | Apr 28, 2016 |
| DNAH8-AS1 | 2 | Apr 28, 2016 |
| DNAI1 | 22 | Apr 28, 2016 |
| DNAI2 | 37 | Apr 28, 2016 |
| DNAJB6 | 4 | Apr 28, 2016 |
| DNAJC5 | 4 | Apr 28, 2016 |
| DNAL1 | 8 | Apr 28, 2016 |
| DNASE1L1 | 1 | Apr 28, 2016 |
| DNM1L | 8 | Apr 28, 2016 |
| DNM2 | 16 | Apr 28, 2016 |
| DNMT1 | 14 | Apr 28, 2016 |
| DOCK6 | 4 | Apr 28, 2016 |
| DOCK8 | 16 | Apr 28, 2016 |
| DOK1 | 1 | Apr 28, 2016 |
| DOK7 | 50 | Apr 28, 2016 |
| DPAGT1 | 3 | Apr 28, 2016 |
| DPM1 | 2 | Apr 28, 2016 |
| DPYD | 10 | Apr 28, 2016 |
| DPYD-AS1 | 1 | Apr 28, 2016 |
| DRC1 | 4 | Apr 28, 2016 |
| DRD2 | 6 | Apr 28, 2016 |
| DSC2 | 7 | Apr 28, 2016 |
| DSG2 | 14 | Apr 28, 2016 |
| DSG2-AS1 | 7 | Apr 28, 2016 |
| DSP | 24 | Apr 28, 2016 |
| DSPP | 9 | Apr 28, 2016 |
| DSTYK | 2 | Apr 28, 2016 |
| DTNA | 3 | Apr 28, 2016 |
| DTNBP1 | 7 | Apr 28, 2016 |
| DUOX2 | 14 | Apr 28, 2016 |
| DUOXA2 | 5 | Apr 28, 2016 |
| DUSP29 | 11 | Apr 28, 2016 |
| DYNC1H1 | 14 | Apr 28, 2016 |
| DYSF | 75 | Apr 28, 2016 |
| EBP | 2 | Apr 28, 2016 |
| ECE1 | 10 | Apr 28, 2016 |
| ECEL1 | 9 | Apr 28, 2016 |
| EDA | 3 | Apr 28, 2016 |
| EDAR | 10 | Apr 28, 2016 |
| EDARADD | 5 | Apr 28, 2016 |
| EDN3 | 1 | Apr 28, 2016 |
| EDNRB | 7 | Apr 28, 2016 |
| EDNRB-AS1 | 5 | Apr 28, 2016 |
| EFCAB13-DT | 1 | Apr 28, 2016 |
| EFEMP1 | 1 | Apr 28, 2016 |
| EFEMP2 | 2 | Apr 28, 2016 |
| EFHC1 | 7 | Apr 28, 2016 |
| EFTUD2 | 10 | Apr 28, 2016 |
| EGFR | 7 | Apr 28, 2016 |
| EGFR-AS1 | 1 | Apr 28, 2016 |
| EGR2 | 1 | Apr 28, 2016 |
| EHMT1 | 6 | Apr 28, 2016 |
| EIF2B1 | 5 | Apr 28, 2016 |
| EIF2B2 | 2 | Apr 28, 2016 |
| EIF2B3 | 8 | Apr 28, 2016 |
| EIF2B4 | 9 | Apr 28, 2016 |
| EIF2B5 | 3 | Apr 28, 2016 |
| ELANE | 11 | Apr 28, 2016 |
| ELN | 9 | Apr 28, 2016 |
| ELOVL4 | 1 | Apr 28, 2016 |
| ELP1 | 16 | Apr 28, 2016 |
| EMP2 | 1 | Apr 28, 2016 |
| ENAM | 2 | Apr 28, 2016 |
| ENG | 17 | Apr 28, 2016 |
| EP300 | 18 | Apr 28, 2016 |
| EPB42 | 12 | Apr 28, 2016 |
| EPCAM | 32 | Jan 29, 2018 |
| EPHA2 | 13 | Apr 28, 2016 |
| EPM2A | 4 | Apr 28, 2016 |
| ERCC2 | 12 | Apr 28, 2016 |
| ERCC4 | 12 | Apr 28, 2016 |
| ERCC5 | 8 | Apr 28, 2016 |
| ERCC6 | 17 | Apr 28, 2016 |
| ERCC6-PGBD3 | 5 | Apr 28, 2016 |
| ERCC8 | 5 | Apr 28, 2016 |
| ERCC8-AS1 | 1 | Apr 28, 2016 |
| ESCO2 | 4 | Apr 28, 2016 |
| ESR1 | 2 | Apr 28, 2016 |
| ESRRB | 5 | Apr 28, 2016 |
| ETHE1 | 1 | Apr 28, 2016 |
| EVC | 39 | Apr 28, 2016 |
| EVC2 | 24 | Apr 28, 2016 |
| EXOSC3 | 2 | Apr 28, 2016 |
| EXT1 | 9 | Apr 28, 2016 |
| EXT2 | 9 | Apr 28, 2016 |
| EYA1 | 5 | Apr 28, 2016 |
| EYA4 | 3 | Apr 28, 2016 |
| EZH2 | 6 | Apr 28, 2016 |
| F10 | 3 | Apr 28, 2016 |
| F11 | 6 | Apr 28, 2016 |
| F11-AS1 | 3 | Apr 28, 2016 |
| F12 | 3 | Apr 28, 2016 |
| F13A1 | 7 | Apr 28, 2016 |
| F13B | 4 | Apr 28, 2016 |
| F2 | 7 | Apr 28, 2016 |
| F5 | 31 | Apr 28, 2016 |
| F7 | 5 | Apr 28, 2016 |
| F8 | 7 | Apr 28, 2016 |
| F9 | 3 | Apr 28, 2016 |
| FAH | 12 | Apr 28, 2016 |
| FAM126A | 1 | Apr 28, 2016 |
| FAM20A | 5 | Apr 28, 2016 |
| FAM83H | 5 | Apr 28, 2016 |
| FAN1 | 2 | Apr 28, 2016 |
| FANCA | 64 | Apr 28, 2016 |
| FANCB | 2 | Apr 28, 2016 |
| FANCC | 9 | Apr 28, 2016 |
| FANCD2 | 31 | Apr 28, 2016 |
| FANCD2OS | 6 | Apr 28, 2016 |
| FANCE | 7 | Apr 28, 2016 |
| FANCF | 7 | Apr 28, 2016 |
| FANCG | 8 | Apr 28, 2016 |
| FANCI | 21 | Apr 28, 2016 |
| FANCL | 4 | Apr 28, 2016 |
| FANCM | 17 | Apr 28, 2016 |
| FARS2 | 4 | Apr 28, 2016 |
| FAS | 1 | Apr 28, 2016 |
| FBLN5 | 1 | Apr 28, 2016 |
| FBN1 | 57 | Apr 28, 2016 |
| FBN2 | 79 | Apr 28, 2016 |
| FBP1 | 11 | Apr 28, 2016 |
| FBXL3 | 3 | Apr 28, 2016 |
| FBXL4 | 3 | Apr 28, 2016 |
| FBXO30-DT | 3 | Apr 28, 2016 |
| FECH | 3 | Apr 28, 2016 |
| FERMT1 | 6 | Apr 28, 2016 |
| FGA | 4 | Apr 28, 2016 |
| FGB | 8 | Apr 28, 2016 |
| FGD1 | 6 | Apr 28, 2016 |
| FGF3 | 4 | Apr 28, 2016 |
| FGFR1 | 1 | Apr 28, 2016 |
| FGFR2 | 11 | Apr 28, 2016 |
| FGFR3 | 35 | Apr 28, 2016 |
| FH | 5 | Apr 28, 2016 |
| FHL1 | 3 | Apr 28, 2016 |
| FIG4 | 12 | Apr 28, 2016 |
| FKBP10 | 2 | Apr 28, 2016 |
| FKRP | 13 | Apr 28, 2016 |
| FKTN | 14 | Apr 28, 2016 |
| FLCN | 9 | Apr 28, 2016 |
| FLNA | 13 | Apr 28, 2016 |
| FLNB | 25 | Apr 28, 2016 |
| FLNB-AS1 | 2 | Apr 28, 2016 |
| FLNC | 57 | Apr 28, 2016 |
| FLNC-AS1 | 15 | Apr 28, 2016 |
| FLT4 | 59 | Apr 28, 2016 |
| FMO3 | 19 | Jul 10, 2017 |
| FOLR1 | 1 | Apr 28, 2016 |
| FOXC1 | 2 | Apr 28, 2016 |
| FOXC2 | 6 | Apr 28, 2016 |
| FOXC2-AS1 | 3 | Apr 28, 2016 |
| FOXE3 | 3 | Apr 28, 2016 |
| FOXG1 | 1 | Apr 28, 2016 |
| FOXH1 | 11 | Apr 28, 2016 |
| FOXI1 | 1 | Apr 28, 2016 |
| FOXL2 | 4 | Apr 28, 2016 |
| FOXP3 | 1 | Apr 28, 2016 |
| FRAS1 | 32 | Apr 28, 2016 |
| FREM1 | 14 | Apr 28, 2016 |
| FREM2 | 6 | Apr 28, 2016 |
| FRMD7 | 5 | Apr 28, 2016 |
| FSHB | 1 | Apr 28, 2016 |
| FSHR | 5 | Apr 28, 2016 |
| FTCD | 7 | Apr 28, 2016 |
| FTH1 | 3 | Apr 28, 2016 |
| FTL | 1 | Apr 28, 2016 |
| FUS | 8 | Apr 28, 2016 |
| FYCO1 | 21 | Apr 28, 2016 |
| G6PC1 | 4 | Apr 28, 2016 |
| G6PC3 | 4 | Apr 28, 2016 |
| G6PD | 1 | Apr 28, 2016 |
| GAA | 54 | Apr 28, 2016 |
| GABRA1 | 6 | Apr 28, 2016 |
| GABRB3 | 5 | Apr 28, 2016 |
| GABRD | 4 | Apr 28, 2016 |
| GABRG2 | 4 | Apr 28, 2016 |
| GALC | 24 | Apr 28, 2016 |
| GALE | 3 | Apr 28, 2016 |
| GALK1 | 2 | Apr 28, 2016 |
| GALNS | 20 | Apr 28, 2016 |
| GALT | 7 | Apr 28, 2016 |
| GAMT | 3 | Apr 28, 2016 |
| GAN | 8 | Apr 28, 2016 |
| GARS1 | 18 | Apr 28, 2016 |
| GATA1 | 3 | Apr 28, 2016 |
| GATA2 | 65 | Aug 15, 2019 |
| GATA3 | 3 | Apr 28, 2016 |
| GATAD1 | 3 | Apr 28, 2016 |
| GATM | 2 | Apr 28, 2016 |
| GBA | 10 | Jun 7, 2019 |
| GBE1 | 15 | Apr 28, 2016 |
| GCDH | 5 | Apr 28, 2016 |
| GCH1 | 2 | Apr 28, 2016 |
| GCK | 10 | Apr 28, 2016 |
| GCNT2 | 3 | Apr 28, 2016 |
| GDAP1 | 1 | Apr 28, 2016 |
| GDF1 | 7 | Apr 28, 2016 |
| GDF5 | 5 | Apr 28, 2016 |
| GDF5-AS1 | 3 | Apr 28, 2016 |
| GDF6 | 5 | Apr 28, 2016 |
| GDNF | 2 | Apr 28, 2016 |
| GFI1 | 11 | Apr 28, 2016 |
| GFPT1 | 8 | Apr 28, 2016 |
| GH-LCR | 25 | Apr 28, 2016 |
| GHR | 10 | Apr 28, 2016 |
| GHSR | 2 | Apr 28, 2016 |
| GIPC3 | 4 | Apr 28, 2016 |
| GJA1 | 3 | Apr 28, 2016 |
| GJA3 | 3 | Apr 28, 2016 |
| GJA8 | 1 | Apr 28, 2016 |
| GJB1 | 1 | Apr 28, 2016 |
| GJB2 | 10 | Feb 25, 2020 |
| GJB3 | 6 | Apr 28, 2016 |
| GJC2 | 3 | Apr 28, 2016 |
| GLA | 8 | Apr 28, 2016 |
| GLB1 | 12 | Apr 28, 2016 |
| GLDC | 9 | Apr 28, 2016 |
| GLE1 | 7 | Apr 28, 2016 |
| GLI2 | 42 | Apr 28, 2016 |
| GLI3 | 46 | Apr 28, 2016 |
| GLIS2 | 7 | Apr 28, 2016 |
| GLIS3 | 5 | Apr 28, 2016 |
| GLUD1 | 7 | Apr 28, 2016 |
| GM2A | 5 | Apr 28, 2016 |
| GMPPB | 6 | Apr 28, 2016 |
| GNA11 | 5 | Apr 28, 2016 |
| GNAT2 | 3 | Apr 28, 2016 |
| GNB4 | 2 | Apr 28, 2016 |
| GNE | 9 | Apr 28, 2016 |
| GNPAT | 5 | Apr 28, 2016 |
| GNPTAB | 11 | Apr 28, 2016 |
| GNPTG | 2 | Apr 28, 2016 |
| GNS | 3 | Apr 28, 2016 |
| GORAB | 1 | Apr 28, 2016 |
| GOSR2 | 5 | Apr 28, 2016 |
| GP1BA | 11 | Apr 28, 2016 |
| GP1BB | 1 | Apr 28, 2016 |
| GP6 | 19 | Apr 28, 2016 |
| GP9 | 3 | Apr 28, 2016 |
| GPC3 | 4 | Apr 28, 2016 |
| GPD1L | 1 | Apr 28, 2016 |
| GPHN | 2 | Apr 28, 2016 |
| GPI | 1 | Apr 28, 2016 |
| GPR143 | 4 | Apr 28, 2016 |
| GPSM2 | 6 | Apr 28, 2016 |
| GRHL2 | 5 | Apr 28, 2016 |
| GRHPR | 4 | Apr 28, 2016 |
| GRIN2A | 7 | Apr 28, 2016 |
| GRIP1 | 5 | Apr 28, 2016 |
| GRN | 7 | Apr 28, 2016 |
| GRXCR1 | 3 | Apr 28, 2016 |
| GSS | 2 | Apr 28, 2016 |
| GUCA1A | 1 | Apr 28, 2016 |
| GUCA1B | 1 | Apr 28, 2016 |
| GUCY2D | 11 | Apr 28, 2016 |
| GUSB | 5 | Apr 28, 2016 |
| GYS1 | 1 | Apr 28, 2016 |
| GYS2 | 23 | Apr 28, 2016 |
| HADH | 1 | Apr 28, 2016 |
| HAMP | 1 | Apr 28, 2016 |
| HAX1 | 5 | Apr 28, 2016 |
| HBB | 11 | Apr 28, 2016 |
| HCCS | 1 | Apr 28, 2016 |
| HCN4 | 6 | Apr 28, 2016 |
| HDAC8 | 2 | Apr 28, 2016 |
| HEPACAM | 8 | Apr 28, 2016 |
| HES7 | 3 | Apr 28, 2016 |
| HEXA | 11 | Apr 28, 2016 |
| HEXB | 14 | Oct 12, 2018 |
| HFE | 1 | Apr 28, 2016 |
| HGD | 2 | Apr 28, 2016 |
| HGF | 5 | Apr 28, 2016 |
| HGSNAT | 3 | Apr 28, 2016 |
| HIGD2B | 2 | Apr 28, 2016 |
| HINT1 | 1 | Apr 28, 2016 |
| HJV | 1 | Apr 28, 2016 |
| HK1 | 1 | Apr 28, 2016 |
| HLCS | 9 | Apr 28, 2016 |
| HMBS | 5 | Apr 28, 2016 |
| HMGCL | 2 | Apr 28, 2016 |
| HNF1A | 16 | Apr 28, 2016 |
| HNF1B | 4 | Apr 28, 2016 |
| HNF4A | 10 | Apr 28, 2016 |
| HNRNPA1 | 1 | Apr 28, 2016 |
| HNRNPA2B1 | 4 | Apr 28, 2016 |
| HNRNPUL2-BSCL2 | 6 | Apr 28, 2016 |
| HPS1 | 23 | Apr 28, 2016 |
| HPS3 | 8 | Apr 28, 2016 |
| HPS4 | 16 | Apr 28, 2016 |
| HPS5 | 17 | Apr 28, 2016 |
| HPS6 | 8 | Apr 28, 2016 |
| HRAS | 9 | Apr 28, 2016 |
| HSD17B3 | 5 | Apr 28, 2016 |
| HSD17B3-AS1 | 1 | Apr 28, 2016 |
| HSD17B4 | 11 | Apr 28, 2016 |
| HSD3B7 | 8 | Apr 28, 2016 |
| HSF4 | 1 | Apr 28, 2016 |
| HSPB1 | 5 | Apr 28, 2016 |
| HSPB8 | 2 | Apr 28, 2016 |
| IDS | 1 | Apr 28, 2016 |
| IDUA | 24 | Apr 28, 2016 |
| IFIH1 | 4 | Apr 28, 2016 |
| IFITM5 | 1 | Apr 28, 2016 |
| IFT122 | 10 | Apr 28, 2016 |
| IGHMBP2 | 30 | Apr 28, 2016 |
| IGSF1 | 4 | Apr 28, 2016 |
| IL7R | 4 | Apr 28, 2016 |
| ILDR1 | 6 | Apr 28, 2016 |
| INF2 | 27 | Apr 28, 2016 |
| INPP5E | 33 | Apr 28, 2016 |
| INS | 6 | Apr 28, 2016 |
| INS-IGF2 | 5 | Apr 28, 2016 |
| INVS | 24 | Apr 28, 2016 |
| IQCB1 | 9 | Apr 28, 2016 |
| IRF6 | 8 | Apr 28, 2016 |
| ITGA2B | 6 | Apr 28, 2016 |
| ITGA7 | 27 | Apr 28, 2016 |
| ITGB3 | 9 | Apr 28, 2016 |
| ITGB4 | 2 | Apr 28, 2016 |
| IVD | 5 | Apr 28, 2016 |
| IYD | 1 | Apr 28, 2016 |
| JAG1 | 34 | Apr 28, 2016 |
| JUP | 13 | Apr 28, 2016 |
| KAT6B | 22 | Apr 28, 2016 |
| KBTBD13 | 18 | Apr 28, 2016 |
| KCNA5 | 1 | Apr 28, 2016 |
| KCND3 | 2 | Apr 28, 2016 |
| KCNE1 | 1 | Apr 28, 2016 |
| KCNE2 | 1 | Apr 28, 2016 |
| KCNE3 | 1 | Apr 28, 2016 |
| KCNH1 | 1 | Apr 28, 2016 |
| KCNH2 | 5 | Apr 28, 2016 |
| KCNJ10 | 3 | Apr 28, 2016 |
| KCNJ11 | 13 | Apr 28, 2016 |
| KCNJ2 | 2 | Apr 28, 2016 |
| KCNJ5 | 6 | Apr 28, 2016 |
| KCNQ1 | 7 | Apr 28, 2016 |
| KCNQ1-AS1 | 1 | Apr 28, 2016 |
| KCNQ1OT1 | 1 | Apr 28, 2016 |
| KCNQ2 | 9 | Apr 28, 2016 |
| KCNQ4 | 14 | Apr 28, 2016 |
| KCNT1 | 19 | Apr 28, 2016 |
| KCNV2 | 12 | Apr 28, 2016 |
| KCTD7 | 4 | Apr 28, 2016 |
| KDM6A | 8 | Apr 28, 2016 |
| KIF11 | 5 | Apr 28, 2016 |
| KIF1B | 9 | Apr 28, 2016 |
| KIF7 | 42 | Apr 28, 2016 |
| KIFBP | 2 | Apr 28, 2016 |
| KIRREL2 | 3 | Apr 28, 2016 |
| KIT | 11 | Apr 28, 2016 |
| KLF1 | 1 | Apr 28, 2016 |
| KLF11 | 3 | Apr 28, 2016 |
| KLHL3 | 3 | Apr 28, 2016 |
| KLHL40 | 10 | Apr 28, 2016 |
| KLHL41 | 6 | Apr 28, 2016 |
| KLK4 | 3 | Apr 28, 2016 |
| KLLN | 3 | Dec 20, 2016 |
| KMT2A | 3 | Apr 28, 2016 |
| KMT2D | 45 | Apr 28, 2016 |
| KRAS | 7 | Dec 23, 2019 |
| KRIT1 | 117 | Oct 12, 2018 |
| KRT14 | 8 | Apr 28, 2016 |
| KRT5 | 13 | Apr 28, 2016 |
| L1CAM | 14 | Apr 28, 2016 |
| LAMA2 | 85 | Apr 28, 2016 |
| LAMA3 | 9 | Apr 28, 2016 |
| LAMA4 | 14 | Apr 28, 2016 |
| LAMB2 | 21 | Apr 28, 2016 |
| LAMB3 | 17 | Apr 28, 2016 |
| LAMC2 | 8 | Apr 28, 2016 |
| LAMP2 | 3 | Apr 28, 2016 |
| LARGE1 | 23 | Apr 28, 2016 |
| LARS2 | 6 | Apr 28, 2016 |
| LARS2-AS1 | 3 | Apr 28, 2016 |
| LBR | 4 | Apr 28, 2016 |
| LDB3 | 23 | Apr 28, 2016 |
| LDLR | 15 | Apr 28, 2016 |
| LEFTY2 | 9 | Apr 28, 2016 |
| LFNG | 9 | Apr 28, 2016 |
| LHCGR | 3 | Apr 28, 2016 |
| LHFPL5 | 1 | Apr 28, 2016 |
| LHX4 | 3 | Apr 28, 2016 |
| LHX4-AS1 | 2 | Apr 28, 2016 |
| LIG4 | 1 | Apr 28, 2016 |
| LIMS2 | 7 | Apr 28, 2016 |
| LINC01389 | 3 | Apr 28, 2016 |
| LIPA | 5 | Apr 28, 2016 |
| LMAN1 | 7 | Apr 28, 2016 |
| LMBRD1 | 3 | Apr 28, 2016 |
| LMNA | 18 | Apr 28, 2016 |
| LMX1B | 13 | Apr 28, 2016 |
| LOC100130587 | 2 | Apr 28, 2016 |
| LOC100505549 | 8 | Apr 28, 2016 |
| LOC100506071 | 2 | Apr 28, 2016 |
| LOC100507346 | 9 | Apr 28, 2016 |
| LOC100507443 | 5 | Apr 28, 2016 |
| LOC101448202 | 24 | Apr 28, 2016 |
| LOC101927055 | 6 | Apr 28, 2016 |
| LOC101927870 | 9 | Apr 28, 2016 |
| LOC101928174 | 3 | Apr 28, 2016 |
| LOC101928222 | 3 | Apr 28, 2016 |
| LOC102723566 | 5 | Apr 28, 2016 |
| LOC102724058 | 8 | Apr 28, 2016 |
| LOC105371049 | 17 | Apr 28, 2016 |
| LOC105371566 | 25 | Apr 28, 2016 |
| LOC105372273 | 1 | Apr 28, 2016 |
| LOC105378311 | 1 | Apr 28, 2016 |
| LOC106050102 | 1 | Apr 28, 2016 |
| LOC106099062 | 3 | Apr 28, 2016 |
| LOC106560211 | 1 | Apr 28, 2016 |
| LOC106627981 | 9 | Jun 7, 2019 |
| LOC106780800 | 28 | Apr 28, 2016 |
| LOC106780803 | 28 | Apr 28, 2016 |
| LOC107133510 | 11 | Apr 28, 2016 |
| LOC107303338 | 24 | Apr 28, 2016 |
| LOC107303340 | 20 | Jun 11, 2018 |
| LOC107457585 | 4 | Apr 28, 2016 |
| LOC107652445 | 1 | Apr 28, 2016 |
| LOC107982234 | 7 | Apr 28, 2016 |
| LOC107988032 | 1 | Apr 28, 2016 |
| LOC108903148 | 2 | Apr 28, 2016 |
| LOC109115964 | 1 | Apr 28, 2016 |
| LOC109461476 | 1 | Apr 28, 2016 |
| LOC109610631 | 1 | Apr 28, 2016 |
| LOC109611589 | 2 | Apr 28, 2016 |
| LOC110006319 | 8 | Apr 28, 2016 |
| LOC110011216 | 5 | Apr 28, 2016 |
| LOC110121269 | 2 | Apr 28, 2016 |
| LOC110121288 | 6 | Apr 28, 2016 |
| LOC110121427 | 2 | Apr 28, 2016 |
| LOC110121471 | 1 | Apr 28, 2016 |
| LOC110121486 | 5 | Apr 28, 2016 |
| LOC110631417 | 1 | Apr 28, 2016 |
| LOC111674463 | 1 | Apr 28, 2016 |
| LOC111674472 | 3 | Apr 28, 2016 |
| LOC111674477 | 3 | Apr 28, 2016 |
| LOC111811965 | 1 | Apr 28, 2016 |
| LOC112449713 | 1 | Apr 28, 2016 |
| LOC112486223 | 3 | Apr 28, 2016 |
| LOC112533671 | 1 | Apr 28, 2016 |
| LOC112533672 | 2 | Apr 28, 2016 |
| LOC112997540 | 4 | Apr 28, 2016 |
| LOC113748416 | 2 | Oct 12, 2018 |
| LOC113939944 | 1 | Apr 28, 2016 |
| LOC114827827 | 1 | Apr 28, 2016 |
| LOC114827850 | 1 | Apr 28, 2016 |
| LOC114827851 | 5 | Apr 28, 2016 |
| LOC117038776 | 1 | Apr 28, 2016 |
| LOC117038795 | 1 | Apr 28, 2016 |
| LOC118142757 | 1 | Apr 28, 2016 |
| LOXHD1 | 23 | Apr 28, 2016 |
| LOXL3 | 3 | Apr 28, 2016 |
| LPIN1 | 19 | Apr 28, 2016 |
| LPIN2 | 3 | Apr 28, 2016 |
| LRIG2 | 1 | Apr 28, 2016 |
| LRMDA | 7 | Apr 28, 2016 |
| LRP2 | 43 | Apr 28, 2016 |
| LRP5 | 16 | Apr 28, 2016 |
| LRRC37A2 | 5 | Apr 28, 2016 |
| LRRC56 | 9 | Apr 28, 2016 |
| LRTOMT | 1 | Apr 28, 2016 |
| LTBP2 | 6 | Apr 28, 2016 |
| LURAP1L-AS1 | 5 | Apr 28, 2016 |
| LYST | 41 | Apr 28, 2016 |
| MAF | 6 | Apr 28, 2016 |
| MAN2B1 | 4 | Apr 28, 2016 |
| MAP2K1 | 13 | Apr 28, 2016 |
| MAP2K2 | 26 | Apr 28, 2016 |
| MAPT | 18 | Apr 28, 2016 |
| MARVELD2 | 2 | Apr 28, 2016 |
| MASTL | 18 | Apr 28, 2016 |
| MAT1A | 7 | Apr 28, 2016 |
| MATN3 | 6 | Apr 28, 2016 |
| MATR3 | 2 | Apr 28, 2016 |
| MBD5 | 2 | Apr 28, 2016 |
| MC1R | 13 | Apr 28, 2016 |
| MC4R | 1 | Apr 28, 2016 |
| MCCC1 | 9 | Apr 28, 2016 |
| MCCC2 | 10 | Apr 28, 2016 |
| MCOLN1 | 2 | Apr 28, 2016 |
| MCPH1 | 8 | Apr 28, 2016 |
| MECP2 | 4 | Apr 28, 2016 |
| MED12 | 12 | Apr 28, 2016 |
| MED12L | 2 | Apr 28, 2016 |
| MED23 | 1 | Apr 28, 2016 |
| MEF2C | 1 | Apr 28, 2016 |
| MEF2C-AS2 | 1 | Apr 28, 2016 |
| MEFV | 15 | Apr 28, 2016 |
| MEGF10 | 23 | Apr 28, 2016 |
| MEN1 | 26 | Jan 29, 2018 |
| MEOX1 | 2 | Apr 28, 2016 |
| MESP2 | 14 | Apr 28, 2016 |
| MET | 18 | Apr 28, 2016 |
| MFF-DT | 36 | Apr 28, 2016 |
| MFN2 | 7 | Apr 28, 2016 |
| MFRP | 6 | Apr 28, 2016 |
| MFSD8 | 2 | Apr 28, 2016 |
| MGAT2 | 1 | Apr 28, 2016 |
| MGME1 | 1 | Apr 28, 2016 |
| MHRT | 12 | Apr 28, 2016 |
| MILR1 | 3 | Apr 28, 2016 |
| MIP | 1 | Apr 28, 2016 |
| MIR1225 | 1 | Apr 28, 2016 |
| MIR6084 | 1 | Apr 28, 2016 |
| MIR6511B1 | 1 | Apr 28, 2016 |
| MIR6766 | 1 | Apr 28, 2016 |
| MIR6886 | 1 | Apr 28, 2016 |
| MITF | 5 | Jul 10, 2017 |
| MKKS | 11 | Apr 28, 2016 |
| MKS1 | 18 | Apr 28, 2016 |
| MLC1 | 19 | Apr 28, 2016 |
| MLH1 | 53 | Jan 29, 2018 |
| MLH3 | 4 | Apr 28, 2016 |
| MMAA | 3 | Apr 28, 2016 |
| MMAB | 8 | Apr 28, 2016 |
| MMACHC | 3 | Apr 28, 2016 |
| MMADHC | 2 | Apr 28, 2016 |
| MMP20 | 4 | Apr 28, 2016 |
| MMUT | 7 | Apr 28, 2016 |
| MPDU1 | 3 | Apr 28, 2016 |
| MPI | 5 | Apr 28, 2016 |
| MPL | 11 | Apr 28, 2016 |
| MPZ | 2 | Apr 28, 2016 |
| MRE11 | 6 | Apr 28, 2016 |
| MSH2 | 72 | Jan 29, 2018 |
| MSH6 | 81 | Jan 29, 2018 |
| MSX2 | 1 | Apr 28, 2016 |
| MTM1 | 3 | Apr 28, 2016 |
| MTMR10 | 1 | Apr 28, 2016 |
| MTMR2 | 2 | Apr 28, 2016 |
| MTPAP | 4 | Apr 28, 2016 |
| MTR | 1 | Apr 28, 2016 |
| MTRFR | 2 | Apr 28, 2016 |
| MTRR | 1 | Apr 28, 2016 |
| MUSK | 23 | Apr 28, 2016 |
| MUTYH | 42 | Jan 29, 2018 |
| MVK | 11 | Apr 28, 2016 |
| MYBPC1 | 14 | Apr 28, 2016 |
| MYBPC3 | 22 | Apr 28, 2016 |
| MYEF2 | 1 | Apr 28, 2016 |
| MYF6 | 2 | Apr 28, 2016 |
| MYH11 | 59 | Apr 28, 2016 |
| MYH14 | 31 | Apr 28, 2016 |
| MYH2 | 20 | Apr 28, 2016 |
| MYH3 | 61 | Apr 28, 2016 |
| MYH6 | 32 | Apr 28, 2016 |
| MYH7 | 60 | Apr 28, 2016 |
| MYH8 | 19 | Apr 28, 2016 |
| MYH9 | 81 | Apr 28, 2016 |
| MYHAS | 39 | Apr 28, 2016 |
| MYL2 | 5 | Apr 28, 2016 |
| MYL3 | 3 | Apr 28, 2016 |
| MYLK | 54 | Apr 28, 2016 |
| MYLK-AS1 | 2 | Apr 28, 2016 |
| MYO15A | 34 | Apr 28, 2016 |
| MYO1A | 6 | Apr 28, 2016 |
| MYO3A | 27 | Apr 28, 2016 |
| MYO5A | 20 | Apr 28, 2016 |
| MYO6 | 11 | Apr 28, 2016 |
| MYO7A | 31 | Apr 28, 2016 |
| MYOC | 1 | Apr 28, 2016 |
| MYOT | 12 | Apr 28, 2016 |
| NAGLU | 3 | Apr 28, 2016 |
| NAGPA | 6 | Apr 28, 2016 |
| NAGS | 5 | Apr 28, 2016 |
| NALCN | 16 | Apr 28, 2016 |
| NALCN-AS1 | 1 | Apr 28, 2016 |
| NBEAL2 | 18 | Apr 28, 2016 |
| NBN | 52 | Jan 29, 2018 |
| NCF2 | 4 | Apr 28, 2016 |
| NCF4 | 7 | Apr 28, 2016 |
| NCF4-AS1 | 1 | Apr 28, 2016 |
| NDE1 | 30 | Apr 28, 2016 |
| NDP | 1 | Apr 28, 2016 |
| NDRG1 | 2 | Apr 28, 2016 |
| NDUFS1 | 5 | Apr 28, 2016 |
| NDUFS7 | 2 | Apr 28, 2016 |
| NEB | 228 | Nov 9, 2018 |
| NEK8 | 2 | Apr 28, 2016 |
| NEUROD1 | 2 | Apr 28, 2016 |
| NEXN | 1 | Apr 28, 2016 |
| NF1 | 125 | Jan 29, 2018 |
| NF2 | 6 | Apr 28, 2016 |
| NHLRC1 | 2 | Apr 28, 2016 |
| NHP2 | 2 | Apr 28, 2016 |
| NHS | 3 | Apr 28, 2016 |
| NIPAL4 | 4 | Apr 28, 2016 |
| NIPBL | 21 | Apr 28, 2016 |
| NKX2-1 | 1 | Apr 28, 2016 |
| NKX2-5 | 6 | Apr 28, 2016 |
| NLRP12 | 9 | Apr 28, 2016 |
| NLRP3 | 10 | Apr 28, 2016 |
| NME8 | 39 | Apr 28, 2016 |
| NOC3L | 3 | Apr 28, 2016 |
| NODAL | 6 | Apr 28, 2016 |
| NOP10 | 1 | Apr 28, 2016 |
| NOTCH2 | 8 | Apr 28, 2016 |
| NOTCH3 | 39 | Apr 28, 2016 |
| NPC1 | 29 | Apr 28, 2016 |
| NPC2 | 1 | Apr 28, 2016 |
| NPHP1 | 14 | Apr 28, 2016 |
| NPHP3 | 38 | Apr 28, 2016 |
| NPHP3-ACAD11 | 38 | Apr 28, 2016 |
| NPHP3-AS1 | 4 | Apr 28, 2016 |
| NPHP4 | 37 | Apr 28, 2016 |
| NPHS1 | 30 | Apr 28, 2016 |
| NPHS2 | 9 | Apr 28, 2016 |
| NPPA | 2 | Apr 28, 2016 |
| NPPA-AS1 | 2 | Apr 28, 2016 |
| NR0B1 | 2 | Apr 28, 2016 |
| NR1H4 | 4 | Apr 28, 2016 |
| NR2E3 | 4 | Apr 28, 2016 |
| NR3C2 | 6 | Apr 28, 2016 |
| NR5A1 | 2 | Apr 28, 2016 |
| NRTN | 4 | Apr 28, 2016 |
| NRXN1 | 5 | Apr 28, 2016 |
| NSD1 | 46 | Apr 28, 2016 |
| NSDHL | 1 | Apr 28, 2016 |
| NSUN6 | 5 | Apr 28, 2016 |
| NT5DC1 | 4 | Apr 28, 2016 |
| OCA2 | 27 | Apr 28, 2016 |
| OCRL | 1 | Apr 28, 2016 |
| ODAD1 | 40 | Apr 28, 2016 |
| ODAD2 | 1 | Apr 28, 2016 |
| ODAD3 | 1 | Apr 28, 2016 |
| ODAPH | 1 | Apr 28, 2016 |
| OFD1 | 17 | Apr 28, 2016 |
| OPA1 | 11 | Apr 28, 2016 |
| OPA1-AS1 | 2 | Apr 28, 2016 |
| OPA3 | 1 | Apr 28, 2016 |
| OPHN1 | 2 | Apr 28, 2016 |
| OPTN | 9 | Apr 28, 2016 |
| ORC1 | 1 | Apr 28, 2016 |
| ORC4 | 1 | Apr 28, 2016 |
| ORC6 | 2 | Apr 28, 2016 |
| OTC | 9 | Apr 28, 2016 |
| OTOA | 7 | Apr 28, 2016 |
| OTOF | 34 | Apr 28, 2016 |
| OXCT1 | 1 | Apr 28, 2016 |
| P2RY12 | 2 | Apr 28, 2016 |
| PAFAH1B1 | 8 | Apr 28, 2016 |
| PAH | 16 | Apr 28, 2016 |
| PAK6 | 1 | Apr 28, 2016 |
| PALB2 | 57 | Jan 29, 2018 |
| PAX2 | 4 | Apr 28, 2016 |
| PAX3 | 6 | Apr 28, 2016 |
| PAX4 | 5 | Apr 28, 2016 |
| PAX6 | 3 | Apr 28, 2016 |
| PAX8 | 2 | Apr 28, 2016 |
| PAX8-AS1 | 2 | Apr 28, 2016 |
| PAX9 | 1 | Apr 28, 2016 |
| PCCA | 11 | Apr 28, 2016 |
| PCCB | 5 | Apr 28, 2016 |
| PCDH15 | 21 | Apr 28, 2016 |
| PCDH19 | 5 | Apr 28, 2016 |
| PCSK9 | 18 | Apr 28, 2016 |
| PDCD10 | 23 | Oct 12, 2018 |
| PDE6C | 12 | Apr 28, 2016 |
| PDGFRA | 10 | Apr 28, 2016 |
| PDGFRB | 5 | Apr 28, 2016 |
| PDSS2 | 7 | Apr 28, 2016 |
| PDX1 | 2 | Apr 28, 2016 |
| PDZD7 | 9 | Apr 28, 2016 |
| PEX1 | 13 | Apr 28, 2016 |
| PEX10 | 8 | Apr 28, 2016 |
| PEX13 | 1 | Apr 28, 2016 |
| PEX14 | 9 | Apr 28, 2016 |
| PEX16 | 5 | Apr 28, 2016 |
| PEX19 | 1 | Apr 28, 2016 |
| PEX2 | 1 | Apr 28, 2016 |
| PEX26 | 2 | Apr 28, 2016 |
| PEX3 | 6 | Apr 28, 2016 |
| PEX5 | 4 | Apr 28, 2016 |
| PEX6 | 14 | Apr 28, 2016 |
| PEX7 | 2 | Apr 28, 2016 |
| PFKM | 21 | Apr 28, 2016 |
| PFN1 | 1 | Apr 28, 2016 |
| PGBD3 | 2 | Apr 28, 2016 |
| PHEX | 1 | Apr 28, 2016 |
| PHKA1 | 5 | Apr 28, 2016 |
| PHKA1-AS1 | 1 | Apr 28, 2016 |
| PHKA2 | 13 | Apr 28, 2016 |
| PHKA2-AS1 | 1 | Apr 28, 2016 |
| PHKB | 11 | Apr 28, 2016 |
| PHKG2 | 7 | Apr 28, 2016 |
| PHOX2A | 3 | Apr 28, 2016 |
| PHOX2B | 11 | Apr 28, 2016 |
| PHOX2B-AS1 | 1 | Apr 28, 2016 |
| PHYH | 4 | Apr 28, 2016 |
| PIEZO2 | 37 | Apr 28, 2016 |
| PIGO | 9 | Apr 28, 2016 |
| PIK3CA | 6 | Apr 28, 2016 |
| PIK3R5 | 8 | Apr 28, 2016 |
| PINK1 | 3 | Apr 28, 2016 |
| PINK1-AS | 1 | Apr 28, 2016 |
| PITPNM3 | 12 | Apr 28, 2016 |
| PITX2 | 1 | Apr 28, 2016 |
| PITX3 | 1 | Apr 28, 2016 |
| PJVK | 4 | Apr 28, 2016 |
| PKD1 | 165 | Sep 28, 2018 |
| PKD2 | 15 | Apr 28, 2016 |
| PKHD1 | 105 | Apr 28, 2016 |
| PKLR | 2 | Apr 28, 2016 |
| PKP1 | 2 | Apr 28, 2016 |
| PKP2 | 9 | Apr 28, 2016 |
| PLCB1 | 16 | Apr 28, 2016 |
| PLCE1 | 24 | Apr 28, 2016 |
| PLCE1-AS1 | 3 | Apr 28, 2016 |
| PLEC | 59 | Apr 28, 2016 |
| PLEKHG2 | 1 | Apr 28, 2016 |
| PLEKHG3 | 1 | Apr 28, 2016 |
| PLEKHG5 | 2 | Apr 28, 2016 |
| PLOD1 | 7 | Apr 28, 2016 |
| PLOD2 | 2 | Apr 28, 2016 |
| PLP1 | 2 | Apr 28, 2016 |
| PLUT | 2 | Apr 28, 2016 |
| PMM2 | 6 | Apr 28, 2016 |
| PMS2 | 72 | Jun 11, 2019 |
| PNKD | 6 | Apr 28, 2016 |
| PNKP | 3 | Apr 28, 2016 |
| PNPLA1 | 5 | Apr 28, 2016 |
| PNPLA2 | 22 | Apr 28, 2016 |
| PNPO | 4 | Apr 28, 2016 |
| POLD1 | 119 | Jan 29, 2018 |
| POLE | 156 | Jan 29, 2018 |
| POLG | 26 | Apr 28, 2016 |
| POLG2 | 3 | Apr 28, 2016 |
| POLH | 4 | Apr 28, 2016 |
| POLR2F | 4 | Apr 28, 2016 |
| POLR3H | 1 | Apr 28, 2016 |
| POMGNT1 | 18 | Apr 28, 2016 |
| POMGNT2 | 8 | Apr 28, 2016 |
| POMK | 2 | Apr 28, 2016 |
| POMT1 | 44 | Apr 28, 2016 |
| POMT2 | 23 | Apr 28, 2016 |
| POR | 7 | Apr 28, 2016 |
| POU4F3 | 1 | Apr 28, 2016 |
| PPM1D | 2 | Apr 28, 2016 |
| PPT1 | 3 | Apr 28, 2016 |
| PRF1 | 11 | Apr 28, 2016 |
| PRKAG2 | 13 | Apr 28, 2016 |
| PRKAR1A | 5 | Apr 28, 2016 |
| PRKAR1B | 3 | Apr 28, 2016 |
| PRKCSH | 10 | Apr 28, 2016 |
| PRKN | 4 | Apr 28, 2016 |
| PROC | 3 | Apr 28, 2016 |
| PROM1 | 12 | Apr 28, 2016 |
| PROS1 | 2 | Apr 28, 2016 |
| PRPH2 | 8 | Apr 28, 2016 |
| PRPS1 | 2 | Apr 28, 2016 |
| PRRT2 | 1 | Apr 28, 2016 |
| PRSS1 | 7 | Apr 28, 2016 |
| PRX | 1 | Apr 28, 2016 |
| PSAP | 16 | Apr 28, 2016 |
| PSEN1 | 3 | Apr 28, 2016 |
| PSEN2 | 8 | Apr 28, 2016 |
| PSTPIP1 | 8 | Apr 28, 2016 |
| PTCH1 | 44 | Apr 28, 2016 |
| PTCHD1-AS | 1 | Apr 28, 2016 |
| PTEN | 18 | Jan 29, 2018 |
| PTH | 2 | Apr 28, 2016 |
| PTPN11 | 20 | Apr 28, 2016 |
| PXDN | 15 | Apr 28, 2016 |
| PYGL | 27 | Apr 28, 2016 |
| PYGM | 20 | Apr 28, 2016 |
| PYY | 5 | Apr 28, 2016 |
| QDPR | 1 | Apr 28, 2016 |
| RAB27A | 4 | Apr 28, 2016 |
| RAB3GAP1 | 3 | Apr 28, 2016 |
| RAB9B | 2 | Apr 28, 2016 |
| RAD21 | 3 | Apr 28, 2016 |
| RAD50 | 1 | Apr 28, 2016 |
| RAD51C | 24 | Jan 29, 2018 |
| RAD51D | 19 | Jan 29, 2018 |
| RAD51L3-RFFL | 19 | Jan 29, 2018 |
| RAF1 | 12 | Apr 28, 2016 |
| RAG1 | 5 | Apr 28, 2016 |
| RAG2 | 1 | Apr 28, 2016 |
| RAI1 | 18 | Apr 28, 2016 |
| RANBP2 | 10 | Apr 28, 2016 |
| RAPSN | 16 | Apr 28, 2016 |
| RARS2 | 3 | Apr 28, 2016 |
| RAX | 2 | Apr 28, 2016 |
| RAX2 | 2 | Apr 28, 2016 |
| RB1 | 11 | Apr 28, 2016 |
| RBM20 | 11 | Apr 28, 2016 |
| RDH5 | 3 | Apr 28, 2016 |
| RECQL4 | 21 | Apr 28, 2016 |
| REEP1 | 2 | Apr 28, 2016 |
| RELN | 30 | Apr 28, 2016 |
| REN | 2 | Apr 28, 2016 |
| RET | 89 | Jan 29, 2018 |
| RHO | 4 | Apr 28, 2016 |
| RIF1 | 39 | Nov 9, 2018 |
| RIMS1 | 10 | Apr 28, 2016 |
| RIN2 | 2 | Apr 28, 2016 |
| RIPK4 | 6 | Apr 28, 2016 |
| RIT1 | 4 | Apr 28, 2016 |
| RMND5B | 1 | Apr 28, 2016 |
| RNASE4 | 1 | Apr 28, 2016 |
| RNASEH2A | 4 | Apr 28, 2016 |
| RNASEH2B | 1 | Apr 28, 2016 |
| RNASEH2C | 1 | Apr 28, 2016 |
| RNF17 | 2 | Apr 28, 2016 |
| ROGDI | 4 | Apr 28, 2016 |
| ROR2 | 14 | Apr 28, 2016 |
| RP1 | 2 | Apr 28, 2016 |
| RPE65 | 4 | Apr 28, 2016 |
| RPGR | 32 | Apr 28, 2016 |
| RPGRIP1 | 12 | Apr 28, 2016 |
| RPGRIP1L | 31 | Apr 28, 2016 |
| RPL36A-HNRNPH2 | 8 | Apr 28, 2016 |
| RS1 | 4 | Apr 28, 2016 |
| RSPH1 | 1 | Apr 28, 2016 |
| RSPH4A | 16 | Apr 28, 2016 |
| RSPH9 | 4 | Apr 28, 2016 |
| RUNX1 | 72 | Jul 12, 2018 |
| RUNX2 | 3 | Apr 28, 2016 |
| RXYLT1 | 8 | Apr 28, 2016 |
| RXYLT1-AS1 | 3 | Apr 28, 2016 |
| RYR1 | 1049 | Feb 22, 2021 |
| RYR2 | 67 | Apr 28, 2016 |
| SACS | 27 | Apr 28, 2016 |
| SALL1 | 22 | Apr 28, 2016 |
| SALL4 | 9 | Apr 28, 2016 |
| SBDS | 5 | Apr 28, 2016 |
| SBF1 | 3 | Apr 28, 2016 |
| SBF2 | 2 | Apr 28, 2016 |
| SBF2-AS1 | 1 | Apr 28, 2016 |
| SCARB2 | 7 | Apr 28, 2016 |
| SCN10A | 12 | Apr 28, 2016 |
| SCN11A | 3 | Apr 28, 2016 |
| SCN1A | 18 | Apr 28, 2016 |
| SCN1A-AS1 | 28 | Apr 28, 2016 |
| SCN1B | 5 | Apr 28, 2016 |
| SCN2A | 8 | Apr 28, 2016 |
| SCN2B | 1 | Apr 28, 2016 |
| SCN3B | 1 | Apr 28, 2016 |
| SCN4A | 44 | Apr 28, 2016 |
| SCN4B | 1 | Apr 28, 2016 |
| SCN5A | 23 | Apr 28, 2016 |
| SCN8A | 8 | Apr 28, 2016 |
| SCN9A | 31 | Apr 28, 2016 |
| SCNN1A | 4 | Apr 28, 2016 |
| SCNN1B | 8 | Apr 28, 2016 |
| SCNN1G | 7 | Apr 28, 2016 |
| SCO2 | 5 | Apr 28, 2016 |
| SDCCAG8 | 11 | Apr 28, 2016 |
| SDHA | 26 | Apr 28, 2016 |
| SDHAF2 | 3 | Apr 28, 2016 |
| SDHB | 9 | Apr 28, 2016 |
| SDHC | 2 | Apr 28, 2016 |
| SDHD | 3 | Apr 28, 2016 |
| SEC23B | 11 | Apr 28, 2016 |
| SEC63 | 4 | Apr 28, 2016 |
| SELENON | 31 | Apr 28, 2016 |
| SEMA3E | 4 | Apr 28, 2016 |
| SEMA4A | 4 | Apr 28, 2016 |
| SEPT5-GP1BB | 1 | Apr 28, 2016 |
| SERPINA1 | 8 | Apr 28, 2016 |
| SERPINB6 | 4 | Apr 28, 2016 |
| SERPINC1 | 3 | Apr 28, 2016 |
| SERPINF2 | 5 | Apr 28, 2016 |
| SERPING1 | 2 | Apr 28, 2016 |
| SETX | 31 | Apr 28, 2016 |
| SF3B4 | 2 | Apr 28, 2016 |
| SFTA3 | 1 | Apr 28, 2016 |
| SFTPB | 4 | Apr 28, 2016 |
| SFTPC | 1 | Apr 28, 2016 |
| SGCA | 9 | Apr 28, 2016 |
| SGCB | 3 | Apr 28, 2016 |
| SGCD | 10 | Apr 28, 2016 |
| SGCE | 4 | Apr 28, 2016 |
| SGCG | 13 | Apr 28, 2016 |
| SGSH | 14 | Apr 28, 2016 |
| SH3BP2 | 6 | Apr 28, 2016 |
| SH3PXD2B | 4 | Apr 28, 2016 |
| SH3TC2 | 5 | Apr 28, 2016 |
| SHH | 4 | Apr 28, 2016 |
| SHOC2 | 13 | Apr 28, 2016 |
| SHOX | 7 | Apr 28, 2016 |
| SIL1 | 4 | Apr 28, 2016 |
| SIX3 | 6 | Apr 28, 2016 |
| SIX5 | 2 | Apr 28, 2016 |
| SIX6 | 1 | Apr 28, 2016 |
| SKI | 20 | Apr 28, 2016 |
| SLA | 2 | Apr 28, 2016 |
| SLC12A1 | 4 | Apr 28, 2016 |
| SLC12A3 | 17 | Apr 28, 2016 |
| SLC12A6 | 6 | Apr 28, 2016 |
| SLC16A1 | 3 | Apr 28, 2016 |
| SLC16A2 | 1 | Apr 28, 2016 |
| SLC17A5 | 1 | Apr 28, 2016 |
| SLC17A8 | 6 | Apr 28, 2016 |
| SLC19A1 | 17 | Apr 28, 2016 |
| SLC19A3 | 9 | Apr 28, 2016 |
| SLC24A1 | 4 | Apr 28, 2016 |
| SLC24A5 | 2 | Apr 28, 2016 |
| SLC25A13 | 3 | Apr 28, 2016 |
| SLC25A22 | 5 | Apr 28, 2016 |
| SLC25A3 | 1 | Apr 28, 2016 |
| SLC25A4 | 1 | Apr 28, 2016 |
| SLC26A1 | 5 | Apr 28, 2016 |
| SLC26A2 | 6 | Apr 28, 2016 |
| SLC26A4 | 2 | Apr 28, 2016 |
| SLC26A5 | 5 | Apr 28, 2016 |
| SLC2A1 | 8 | Apr 28, 2016 |
| SLC2A10 | 15 | Apr 28, 2016 |
| SLC2A2 | 12 | Apr 28, 2016 |
| SLC33A1 | 1 | Apr 28, 2016 |
| SLC34A1 | 3 | Apr 28, 2016 |
| SLC35C1 | 3 | Apr 28, 2016 |
| SLC37A4 | 8 | Apr 28, 2016 |
| SLC40A1 | 3 | Apr 28, 2016 |
| SLC45A2 | 3 | Apr 28, 2016 |
| SLC4A1 | 18 | Apr 28, 2016 |
| SLC4A11 | 10 | Apr 28, 2016 |
| SLC52A2 | 2 | Apr 28, 2016 |
| SLC52A3 | 16 | Apr 28, 2016 |
| SLC5A5 | 6 | Apr 28, 2016 |
| SLC5A7 | 2 | Apr 28, 2016 |
| SLC9A6 | 4 | Apr 28, 2016 |
| SLCO1B1 | 3 | Apr 28, 2016 |
| SLCO1B3 | 4 | Apr 28, 2016 |
| SLCO1B3-SLCO1B7 | 4 | Apr 28, 2016 |
| SLMAP | 2 | Apr 28, 2016 |
| SLX4 | 41 | Apr 28, 2016 |
| SMAD3 | 8 | Apr 28, 2016 |
| SMAD4 | 21 | Jan 29, 2018 |
| SMARCA4 | 7 | Apr 28, 2016 |
| SMARCAL1 | 15 | Apr 28, 2016 |
| SMARCB1 | 2 | Apr 28, 2016 |
| SMC1A | 6 | Apr 28, 2016 |
| SMC3 | 17 | Apr 28, 2016 |
| SMCHD1 | 29 | Apr 28, 2016 |
| SMOC1 | 5 | Apr 28, 2016 |
| SMPD1 | 9 | Apr 28, 2016 |
| SNAPC5 | 2 | Apr 28, 2016 |
| SNHG14 | 2 | Apr 28, 2016 |
| SNHG31 | 4 | Apr 28, 2016 |
| SNTA1 | 1 | Apr 28, 2016 |
| SOD1 | 2 | Apr 28, 2016 |
| SOS1 | 26 | Apr 28, 2016 |
| SOX10 | 4 | Apr 28, 2016 |
| SOX18 | 3 | Apr 28, 2016 |
| SOX2 | 1 | Apr 28, 2016 |
| SOX2-OT | 1 | Apr 28, 2016 |
| SPAG1 | 7 | Apr 28, 2016 |
| SPATA22 | 2 | Apr 28, 2016 |
| SPG7 | 17 | Apr 28, 2016 |
| SPINK1 | 4 | Apr 28, 2016 |
| SPINK5 | 26 | Apr 28, 2016 |
| SPRED1 | 6 | Apr 28, 2016 |
| SPTA1 | 50 | Apr 28, 2016 |
| SPTAN1 | 10 | Apr 28, 2016 |
| SPTB | 42 | Apr 28, 2016 |
| SQSTM1 | 8 | Apr 28, 2016 |
| SRCAP | 8 | Apr 28, 2016 |
| SRD5A2 | 2 | Apr 28, 2016 |
| SRY | 1 | Apr 28, 2016 |
| SSUH2 | 2 | Apr 28, 2016 |
| ST3GAL3 | 5 | Apr 28, 2016 |
| ST3GAL4 | 3 | Apr 28, 2016 |
| ST3GAL5 | 1 | Apr 28, 2016 |
| STAC3 | 11 | Apr 28, 2016 |
| STAT3 | 2 | Apr 28, 2016 |
| STIL | 5 | Apr 28, 2016 |
| STIM1 | 14 | Apr 28, 2016 |
| STK11 | 38 | Jan 29, 2018 |
| STON1-GTF2A1L | 3 | Apr 28, 2016 |
| STRA6 | 2 | Apr 28, 2016 |
| STX11 | 4 | Apr 28, 2016 |
| STXBP1 | 6 | Apr 28, 2016 |
| STXBP2 | 34 | Apr 28, 2016 |
| SUCLA2 | 6 | Apr 28, 2016 |
| SUCLG2 | 6 | Apr 28, 2016 |
| SUFU | 3 | Apr 28, 2016 |
| SUMF1 | 11 | Apr 28, 2016 |
| SUOX | 1 | Apr 28, 2016 |
| SYCE2 | 1 | Apr 28, 2016 |
| SYN3 | 1 | Apr 28, 2016 |
| SYNE1 | 109 | Apr 28, 2016 |
| SZT2 | 19 | Apr 28, 2016 |
| SZT2-AS1 | 1 | Apr 28, 2016 |
| TAF1C | 2 | Apr 28, 2016 |
| TARID | 1 | Apr 28, 2016 |
| TASP1 | 1 | Jun 10, 2019 |
| TAT | 1 | Apr 28, 2016 |
| TAZ | 1 | Apr 28, 2016 |
| TBC1D24 | 4 | Apr 28, 2016 |
| TBCEL-TECTA | 18 | Apr 28, 2016 |
| TBX3 | 3 | Apr 28, 2016 |
| TBX4 | 3 | Apr 28, 2016 |
| TBX5 | 8 | Apr 28, 2016 |
| TBX6 | 4 | Apr 28, 2016 |
| TBXA2R | 6 | Apr 28, 2016 |
| TCAP | 8 | Apr 28, 2016 |
| TCEA2 | 3 | Apr 28, 2016 |
| TCF12 | 8 | Apr 28, 2016 |
| TCF4 | 1 | Apr 28, 2016 |
| TCOF1 | 18 | Apr 28, 2016 |
| TCTN1 | 13 | Apr 28, 2016 |
| TCTN2 | 24 | Apr 28, 2016 |
| TCTN3 | 11 | Apr 28, 2016 |
| TDRD7 | 9 | Apr 28, 2016 |
| TECTA | 18 | Apr 28, 2016 |
| TENM3 | 10 | Apr 28, 2016 |
| TERT | 21 | Apr 28, 2016 |
| TFAP2A | 1 | Apr 28, 2016 |
| TFAP2B | 3 | Apr 28, 2016 |
| TFR2 | 3 | Apr 28, 2016 |
| TG | 20 | Apr 28, 2016 |
| TGFB1 | 5 | Apr 28, 2016 |
| TGFB2 | 5 | Apr 28, 2016 |
| TGFBI | 5 | Apr 28, 2016 |
| TGFBR1 | 8 | Apr 28, 2016 |
| TGFBR2 | 12 | Apr 28, 2016 |
| TGIF1 | 7 | Apr 28, 2016 |
| TGM1 | 4 | Apr 28, 2016 |
| TH | 13 | Apr 28, 2016 |
| THPO | 2 | Apr 28, 2016 |
| THRA | 2 | Apr 28, 2016 |
| THRB | 3 | Apr 28, 2016 |
| TIA1 | 3 | May 18, 2017 |
| TIGD1 | 2 | Apr 28, 2016 |
| TIMP3 | 1 | Apr 28, 2016 |
| TJP2 | 30 | Apr 28, 2016 |
| TK2 | 4 | Apr 28, 2016 |
| TMC1 | 9 | Apr 28, 2016 |
| TMEM126A | 2 | Apr 28, 2016 |
| TMEM127 | 2 | Apr 28, 2016 |
| TMEM138 | 2 | Apr 28, 2016 |
| TMEM216 | 8 | Apr 28, 2016 |
| TMEM231 | 11 | Apr 28, 2016 |
| TMEM237 | 20 | Apr 28, 2016 |
| TMEM43 | 7 | Apr 28, 2016 |
| TMEM67 | 33 | Apr 28, 2016 |
| TMIE | 3 | Apr 28, 2016 |
| TMPPE | 2 | Apr 28, 2016 |
| TMPRSS3 | 11 | Apr 28, 2016 |
| TMPRSS6 | 11 | Apr 28, 2016 |
| TNFRSF11A | 8 | Apr 28, 2016 |
| TNFRSF11B | 5 | Apr 28, 2016 |
| TNFRSF13B | 3 | Apr 28, 2016 |
| TNFRSF1A | 3 | Apr 28, 2016 |
| TNK2 | 14 | Apr 28, 2016 |
| TNNI2 | 8 | Apr 28, 2016 |
| TNNI3 | 23 | Apr 28, 2016 |
| TNNT1 | 13 | Apr 28, 2016 |
| TNNT2 | 13 | Apr 28, 2016 |
| TNNT3 | 12 | Apr 28, 2016 |
| TNPO3 | 8 | Apr 28, 2016 |
| TNXB | 91 | Apr 28, 2016 |
| TOE1 | 2 | Jan 29, 2018 |
| TOR1A | 7 | Apr 28, 2016 |
| TOR1AIP1 | 9 | Apr 28, 2016 |
| TP53 | 30 | Jan 29, 2018 |
| TP63 | 13 | Apr 28, 2016 |
| TPM1 | 3 | Apr 28, 2016 |
| TPM2 | 11 | Apr 28, 2016 |
| TPM3 | 5 | Apr 28, 2016 |
| TPO | 12 | Apr 28, 2016 |
| TPP1 | 9 | Apr 28, 2016 |
| TRAP1 | 2 | Apr 28, 2016 |
| TRAPPC11 | 18 | Apr 28, 2016 |
| TRAPPC9 | 8 | Apr 28, 2016 |
| TRB | 7 | Apr 28, 2016 |
| TRDN | 14 | Apr 28, 2016 |
| TREM2 | 3 | Apr 28, 2016 |
| TREX1 | 2 | Apr 28, 2016 |
| TRH | 5 | Apr 28, 2016 |
| TRIM32 | 4 | Apr 28, 2016 |
| TRIOBP | 21 | Apr 28, 2016 |
| TRPC6 | 12 | Apr 28, 2016 |
| TRPM4 | 2 | Apr 28, 2016 |
| TRPS1 | 5 | Apr 28, 2016 |
| TRPV4 | 24 | Apr 28, 2016 |
| TSC1 | 40 | Apr 28, 2016 |
| TSC2 | 129 | Apr 28, 2016 |
| TSEN2 | 9 | Apr 28, 2016 |
| TSEN34 | 2 | Apr 28, 2016 |
| TSEN54 | 24 | Apr 28, 2016 |
| TSHB | 1 | Apr 28, 2016 |
| TSHR | 7 | Apr 28, 2016 |
| TSPAN1 | 14 | Apr 28, 2016 |
| TSPAN12 | 1 | Apr 28, 2016 |
| TSPAN31 | 3 | Jan 29, 2018 |
| TTC14 | 12 | Apr 28, 2016 |
| TTC21B | 39 | Apr 28, 2016 |
| TTC21B-AS1 | 4 | Apr 28, 2016 |
| TTC8 | 11 | Apr 28, 2016 |
| TTN | 291 | Apr 28, 2016 |
| TTN-AS1 | 156 | Apr 28, 2016 |
| TTR | 3 | Apr 28, 2016 |
| TUBA1A | 4 | Apr 28, 2016 |
| TUSC3 | 1 | Apr 28, 2016 |
| TWIST1 | 1 | Apr 28, 2016 |
| TWNK | 5 | Apr 28, 2016 |
| TYK2 | 10 | Apr 28, 2016 |
| TYMP | 7 | Apr 28, 2016 |
| TYR | 5 | Apr 28, 2016 |
| TYRP1 | 10 | Apr 28, 2016 |
| UBE3A | 2 | Apr 28, 2016 |
| UBQLN2 | 1 | Apr 28, 2016 |
| UBR1 | 7 | Apr 28, 2016 |
| UCP2 | 2 | Apr 28, 2016 |
| UGT1A | 2 | Apr 28, 2016 |
| UGT1A1 | 2 | Apr 28, 2016 |
| UGT1A10 | 2 | Apr 28, 2016 |
| UGT1A3 | 2 | Apr 28, 2016 |
| UGT1A4 | 2 | Apr 28, 2016 |
| UGT1A5 | 2 | Apr 28, 2016 |
| UGT1A6 | 2 | Apr 28, 2016 |
| UGT1A7 | 2 | Apr 28, 2016 |
| UGT1A8 | 2 | Apr 28, 2016 |
| UGT1A9 | 2 | Apr 28, 2016 |
| UMOD | 2 | Apr 28, 2016 |
| UMPS | 3 | Apr 28, 2016 |
| UNC119 | 2 | Apr 28, 2016 |
| UNC13D | 43 | Apr 28, 2016 |
| UROD | 2 | Apr 28, 2016 |
| USH1C | 17 | Apr 28, 2016 |
| USH2A | 33 | Apr 28, 2016 |
| USH2A-AS1 | 1 | Apr 28, 2016 |
| USH2A-AS2 | 3 | Apr 28, 2016 |
| UTS2B | 1 | Apr 28, 2016 |
| VANGL1 | 2 | Apr 28, 2016 |
| VAPB | 2 | Apr 28, 2016 |
| VCAN | 30 | Apr 28, 2016 |
| VCAN-AS1 | 23 | Apr 28, 2016 |
| VCL | 11 | Apr 28, 2016 |
| VCP | 16 | Apr 28, 2016 |
| VHL | 55 | Jun 11, 2018 |
| VIPAS39 | 11 | Apr 28, 2016 |
| VPS13B | 27 | Apr 28, 2016 |
| VPS33B | 14 | Apr 28, 2016 |
| VPS35 | 2 | Apr 28, 2016 |
| VPS45 | 1 | Apr 28, 2016 |
| VRK1 | 2 | Apr 28, 2016 |
| VRK2 | 1 | Apr 28, 2016 |
| VSX1 | 2 | Apr 28, 2016 |
| VSX2 | 1 | Apr 28, 2016 |
| VWF | 66 | Apr 28, 2016 |
| WAS | 7 | Apr 28, 2016 |
| WDPCP | 8 | Apr 28, 2016 |
| WDR19 | 14 | Apr 28, 2016 |
| WDR35 | 5 | Apr 28, 2016 |
| WDR36 | 4 | Apr 28, 2016 |
| WDR62 | 19 | Apr 28, 2016 |
| WDR72 | 6 | Apr 28, 2016 |
| WFS1 | 39 | Apr 28, 2016 |
| WHRN | 8 | Apr 28, 2016 |
| WNK1 | 15 | Apr 28, 2016 |
| WNK4 | 1 | Apr 28, 2016 |
| WRAP53 | 9 | Apr 28, 2016 |
| WRN | 16 | Apr 28, 2016 |
| WT1 | 17 | Apr 28, 2016 |
| WWOX | 15 | Apr 28, 2016 |
| XDH | 6 | Apr 28, 2016 |
| XIAP | 1 | Apr 28, 2016 |
| XPA | 1 | Apr 28, 2016 |
| XPC | 19 | Mar 6, 2020 |
| YARS2 | 4 | Apr 28, 2016 |
| YWHAE | 2 | Apr 28, 2016 |
| ZDHHC24 | 8 | Apr 28, 2016 |
| ZEB2 | 2 | Apr 28, 2016 |
| ZFPM2 | 10 | Apr 28, 2016 |
| ZFPM2-AS1 | 9 | Apr 28, 2016 |
| ZIC2 | 8 | Apr 28, 2016 |
| ZIC3 | 7 | Apr 28, 2016 |
| ZMPSTE24 | 3 | Apr 28, 2016 |
| ZNF276 | 7 | Apr 28, 2016 |
| ZNF408 | 2 | Apr 28, 2016 |
| ZNF423 | 24 | Apr 28, 2016 |
| ZNF627 | 3 | Apr 28, 2016 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acute neuronopathic Gaucher's disease | 1 | Jun 7, 2019 |
| Developmental delay | 1 | Jun 10, 2019 |
| Distinctive facial features | 1 | Jun 10, 2019 |
| Gaucher's disease, type 1 | 1 | Jun 7, 2019 |
| Hereditary nonpolyposis colorectal cancer type 4 | 1 | Jun 11, 2019 |
| Multiple congenital anomalies | 1 | Jun 10, 2019 |
| Polycystic kidney disease, adult type | 1 | Sep 28, 2018 |
| Sandhoff disease | 1 | Oct 12, 2018 |
| Subacute neuronopathic Gaucher's disease | 1 | Jun 7, 2019 |
| Von Hippel-Lindau syndrome | 1 | Aug 24, 2017 |
| Welander distal myopathy | 1 | May 18, 2017 |
| not provided | 2314 | Feb 22, 2021 |
| not specified | 16096 | Feb 25, 2020 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 2,4-Dienoyl-CoA reductase deficiency | 2 tests |
| 2-aminoadipic 2-oxoadipic aciduria | 1 test |
| 22q13.3 deletion syndrome | 4 tests |
| 3 Methylcrotonyl-CoA carboxylase 1 deficiency | 5 tests |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 5 tests |
| 3-Methylglutaconic aciduria type 1 | 4 tests |
| 3-Methylglutaconic aciduria type 2 | 13 tests |
| 3-Methylglutaconic aciduria type 3 | 5 tests |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 6 tests |
| 3-methylcrotonyl CoA carboxylase 2 deficiency | 5 tests |
| 3-methylglutaconic aciduria type 9 | 1 test |
| 3-methylglutaconic aciduria type V | 2 tests |
| 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 3 tests |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 5 tests |
| 3-methylglutaconic aciduria, type VIII | 2 tests |
| 3MC syndrome 1 | 1 test |
| 3MC syndrome 2 | 1 test |
| 46,XX sex reversal 4 | 2 tests |
| 46,XX sex reversal, type 1 | 6 tests |
| 46,XX testicular disorder of sex development | 1 test |
| 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis | 1 test |
| 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy | 2 tests |
| 46,XY sex reversal 8 | 5 tests |
| 46,XY sex reversal 9 | 5 tests |
| 46,XY sex reversal, type 1 | 2 tests |
| 46,XY sex reversal, type 2 | 2 tests |
| 46,XY sex reversal, type 3 | 5 tests |
| 46,XY sex reversal, type 5 | 4 tests |
| 46,XY sex reversal, type 6 | 6 tests |
| 46,XY sex reversal, type 7 | 6 tests |
| 46,xx sex reversal 5 | 1 test |
| ABCD syndrome | 2 tests |
| ABri amyloidosis | 2 tests |
| ADULT syndrome | 5 tests |
| ADan amyloidosis | 2 tests |
| ALG1-CDG | 3 tests |
| ALG12-congenital disorder of glycosylation | 5 tests |
| ALG2-CDG | 5 tests |
| ALG3-CDG | 4 tests |
| ALG8-CDG | 5 tests |
| ALG9 congenital disorder of glycosylation | 3 tests |
| ANKRD1-related dilated cardiomyopathy | 1 test |
| AU-KLINE SYNDROME | 1 test |
| Aarskog syndrome | 3 tests |
| Abdominal obesity-metabolic syndrome 3 | 2 tests |
| Abetalipoproteinaemia | 2 tests |
| Ablepharon macrostomia syndrome | 1 test |
| Abnormal activity of mitochondrial respiratory chain | 1 test |
| Abnormal bleeding | 1 test |
| Abnormality of connective tissue | 1 test |
| Abnormality of dental morphology | 1 test |
| Abnormality of metabolism/homeostasis | 1 test |
| Abnormality of mitochondrial metabolism | 1 test |
| Abnormality of the immune system | 1 test |
| Abnormality of the skeletal system | 2 tests |
| Abnormality of the skin | 1 test |
| Abortive cerebellar ataxia | 5 tests |
| Abruzzo-Erickson syndrome | 2 tests |
| Acatalasia | 1 test |
| Acheiropodia | 3 tests |
| Achondrogenesis type II | 11 tests |
| Achondrogenesis, type IA | 2 tests |
| Achondrogenesis, type IB | 5 tests |
| Achondroplasia | 10 tests |
| Achromatopsia | 1 test |
| Achromatopsia 2 | 4 tests |
| Achromatopsia 3 | 2 tests |
| Achromatopsia 4 | 4 tests |
| Achromatopsia 7 | 3 tests |
| Acquired hemoglobin H disease | 4 tests |
| Acquired partial lipodystrophy | 2 tests |
| Acrocallosal syndrome | 10 tests |
| Acrocapitofemoral dysplasia | 3 tests |
| Acrocephalosyndactyly type I | 11 tests |
| Acrodysostosis | 1 test |
| Acrodysostosis 1 with or without hormone resistance | 1 test |
| Acrodysostosis 2, with or without hormone resistance | 5 tests |
| Acrofacial dysostosis, Cincinnati type | 1 test |
| Acromelic frontonasal dysostosis | 2 tests |
| Acromesomelic dysplasia, Demirhan type | 2 tests |
| Acromesomelic dysplasia, Hunter-Thompson type | 4 tests |
| Acromesomelic dysplasia, Maroteaux type | 2 tests |
| Acromicric dysplasia | 8 tests |
| Acth-independent macronodular adrenal hyperplasia 2 | 2 tests |
| Aculeiform cataract | 1 test |
| Acute encephalopathy | 1 test |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2 tests |
| Acute intermittent porphyria | 3 tests |
| Acute lymphoid leukemia | 2 tests |
| Acute myeloid leukemia | 13 tests |
| Acute neuronopathic Gaucher's disease | 3 tests |
| Acyl-CoA dehydrogenase family, member 9, deficiency of | 6 tests |
| Adams-Oliver syndrome | 2 tests |
| Adams-Oliver syndrome 1 | 7 tests |
| Adams-Oliver syndrome 2 | 7 tests |
| Adams-Oliver syndrome 3 | 2 tests |
| Adams-Oliver syndrome 4 | 4 tests |
| Adams-Oliver syndrome 5 | 5 tests |
| Adams-Oliver syndrome 6 | 4 tests |
| Adenine phosphoribosyltransferase deficiency | 1 test |
| Adenosine triphosphate, elevated, of erythrocytes | 1 test |
| Adenylate kinase deficiency, hemolytic anemia due to | 1 test |
| Adenylosuccinate lyase deficiency | 8 tests |
| Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | 7 tests |
| Adrenocortical carcinoma, hereditary | 5 tests |
| Adrenoleukodystrophy | 10 tests |
| Adult hypophosphatasia | 6 tests |
| Adult neuronal ceroid lipofuscinosis | 5 tests |
| Adult polyglucosan body disease | 2 tests |
| Adult proximal spinal muscular atrophy, autosomal dominant | 2 tests |
| Afibrinogenemia, congenital | 4 tests |
| Agammaglobulinemia 2, autosomal recessive | 2 tests |
| Agammaglobulinemia 3, autosomal recessive | 2 tests |
| Agammaglobulinemia 4, autosomal recessive | 2 tests |
| Agammaglobulinemia 5, autosomal dominant | 2 tests |
| Agammaglobulinemia 6, autosomal recessive | 2 tests |
| Agammaglobulinemia 7, autosomal recessive | 5 tests |
| Agammaglobulinemia 8, autosomal dominant | 2 tests |
| Age-related macular degeneration 1 | 2 tests |
| Age-related macular degeneration 2 | 1 test |
| Age-related macular degeneration 3 | 7 tests |
| Age-related macular degeneration 4 | 2 tests |
| Age-related macular degeneration 5 | 2 tests |
| Age-related macular degeneration 6 | 2 tests |
| Agenesis of the corpus callosum with peripheral neuropathy | 3 tests |
| Agnathia-otocephaly complex | 2 tests |
| Aicardi Goutieres syndrome 1 | 5 tests |
| Aicardi Goutieres syndrome 2 | 5 tests |
| Aicardi Goutieres syndrome 3 | 5 tests |
| Aicardi Goutieres syndrome 4 | 5 tests |
| Aicardi Goutieres syndrome 5 | 5 tests |
| Aicardi-Goutieres syndrome 6 | 4 tests |
| Aicardi-Goutieres syndrome 7 | 3 tests |
| Alacrima, achalasia, and mental retardation syndrome | 1 test |
| Alagille syndrome 1 | 10 tests |
| Alagille syndrome 2 | 10 tests |
| Alazami syndrome | 1 test |
| Alazami-Yuan syndrome | 1 test |
| Albinism, ocular, with sensorineural deafness | 6 tests |
| Albinism, oculocutaneous, type VII | 3 tests |
| Alexander Disease | 5 tests |
| Alkaptonuria | 1 test |
| Alkuraya-Kucinskas syndrome | 4 tests |
| Allan-Herndon-Dudley syndrome | 6 tests |
| Alopecia congenita keratosis palmoplantaris | 1 test |
| Alpha thalassemia-X-linked intellectual disability syndrome | 14 tests |
| Alpha-1-antitrypsin deficiency | 2 tests |
| Alpha-2-plasmin inhibitor deficiency | 3 tests |
| Alpha-B crystallinopathy | 4 tests |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 3 tests |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 2 tests |
| Alpha-methylacyl-CoA racemase deficiency | 3 tests |
| Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | 2 tests |
| Alport syndrome | 4 tests |
| Alport syndrome 1, X-linked recessive | 4 tests |
| Alport syndrome 3, autosomal dominant | 4 tests |
| Alport syndrome, autosomal recessive | 5 tests |
| Alstrom syndrome | 8 tests |
| Alternating hemiplegia of childhood 1 | 4 tests |
| Alternating hemiplegia of childhood 2 | 6 tests |
| Alveolar rhabdomyosarcoma (disease) | 3 tests |
| Alzheimer disease | 5 tests |
| Alzheimer disease, type 3 | 4 tests |
| Alzheimer disease, type 4 | 5 tests |
| Alzheimer disease, type 9 | 1 test |
| Amaurosis-hypertrichosis syndrome | 4 tests |
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 2 tests |
| Amelogenesis imperfecta type 1G | 3 tests |
| Amelogenesis imperfecta, hypocalcification type | 2 tests |
| Amelogenesis imperfecta, hypomaturation type IIA4 | 2 tests |
| Amelogenesis imperfecta, hypomaturation type IIA5 | 1 test |
| Amelogenesis imperfecta, hypomaturation type IIA6 | 1 test |
| Amelogenesis imperfecta, hypomaturation type, IIA1 | 2 tests |
| Amelogenesis imperfecta, hypomaturation type, IIA2 | 2 tests |
| Amelogenesis imperfecta, hypomaturation type, IIA3 | 2 tests |
| Amelogenesis imperfecta, type 1E | 3 tests |
| Amelogenesis imperfecta, type IA | 2 tests |
| Amelogenesis imperfecta, type IC | 2 tests |
| Amelogenesis imperfecta, type IH | 1 test |
| Amelogenesis imperfecta, type IV | 2 tests |
| Aminoacylase 1 deficiency | 3 tests |
| Aminoglycoside-induced deafness | 1 test |
| Amish lethal microcephaly | 2 tests |
| Amyloidogenic transthyretin amyloidosis | 7 tests |
| Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 3 tests |
| Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 4 tests |
| Amyotrophic lateral sclerosis 16, juvenile | 1 test |
| Amyotrophic lateral sclerosis 17 | 4 tests |
| Amyotrophic lateral sclerosis 18 | 3 tests |
| Amyotrophic lateral sclerosis 19 | 2 tests |
| Amyotrophic lateral sclerosis 20 | 4 tests |
| Amyotrophic lateral sclerosis 21 | 5 tests |
| Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | 2 tests |
| Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | 4 tests |
| Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 4 tests |
| Amyotrophic lateral sclerosis type 1 | 3 tests |
| Amyotrophic lateral sclerosis type 10 | 5 tests |
| Amyotrophic lateral sclerosis type 11 | 5 tests |
| Amyotrophic lateral sclerosis type 12 | 4 tests |
| Amyotrophic lateral sclerosis type 2 | 3 tests |
| Amyotrophic lateral sclerosis type 23 | 3 tests |
| Amyotrophic lateral sclerosis type 4 | 3 tests |
| Amyotrophic lateral sclerosis type 8 | 3 tests |
| Amyotrophic lateral sclerosis type 9 | 3 tests |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 4 tests |
| Amyotrophic lateral sclerosis, susceptibility to, 25 | 2 tests |
| Anauxetic dysplasia 1 | 2 tests |
| Andersen Tawil syndrome | 7 tests |
| Androgen resistance syndrome | 7 tests |
| Anemia without thromobocytopenia, X-linked | 4 tests |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 4 tests |
| Anemia, sideroblastic, 1 | 2 tests |
| Anemia, sideroblastic, 2, pyridoxine-refractory | 2 tests |
| Angelman syndrome | 9 tests |
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | 5 tests |
| Aniridia 1 | 8 tests |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 13 tests |
| Anterior segment dysgenesis | 4 tests |
| Anterior segment dysgenesis 1 | 5 tests |
| Anterior segment dysgenesis 3 | 6 tests |
| Anterior segment dysgenesis 4 | 8 tests |
| Anterior segment dysgenesis 6 | 1 test |
| Anterior segment dysgenesis 7 | 6 tests |
| Anterior segment dysgenesis 8 | 2 tests |
| Antithrombin III deficiency | 1 test |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 2 tests |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 10 tests |
| Aortic aneurysm, familial thoracic 10 | 6 tests |
| Aortic aneurysm, familial thoracic 11, susceptibility to | 6 tests |
| Aortic aneurysm, familial thoracic 4 | 7 tests |
| Aortic aneurysm, familial thoracic 6 | 7 tests |
| Aortic aneurysm, familial thoracic 7 | 6 tests |
| Aortic aneurysm, familial thoracic 8 | 5 tests |
| Aortic aneurysm, familial thoracic 9 | 4 tests |
| Aortic valve disease 2 | 1 test |
| Aortic valve disorder | 6 tests |
| Aplastic anemia | 2 tests |
| Apolipoprotein C2 deficiency | 2 tests |
| Apparent mineralocorticoid excess | 1 test |
| Arginase deficiency | 7 tests |
| Arginine:glycine amidinotransferase deficiency | 5 tests |
| Argininosuccinate lyase deficiency | 3 tests |
| Armfield X-linked mental retardation syndrome | 1 test |
| Aromatase deficiency | 2 tests |
| Aromatase excess syndrome | 5 tests |
| Arrhinia with choanal atresia and microphthalmia syndrome | 1 test |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 | 7 tests |
| Arrhythmogenic right ventricular cardiomyopathy, type 11 | 7 tests |
| Arrhythmogenic right ventricular cardiomyopathy, type 12 | 7 tests |
| Arrhythmogenic right ventricular cardiomyopathy, type 5 | 5 tests |
| Arrhythmogenic right ventricular dysplasia 8 | 8 tests |
| Arrhythmogenic right ventricular dysplasia 9 | 6 tests |
| Arrhythmogenic right ventricular dysplasia, familial 1 | 7 tests |
| Arrhythmogenic right ventricular dysplasia, familial, 13 | 1 test |
| Arrhythmogenic right ventricular dysplasia, familial, 2 | 8 tests |
| Arterial calcification, generalized, of infancy, 1 | 3 tests |
| Arterial tortuosity syndrome | 6 tests |
| Arteriohepatic dysplasia | 1 test |
| Arthrogryposis multiplex congenita 2, neurogenic type | 1 test |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 1 test |
| Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 1 test |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 2 tests |
| Arthrogryposis, distal, type 2b2 | 2 tests |
| Arthrogryposis, distal, type 2b3 | 1 test |
| Arthrogryposis, perthes disease, and upward gaze palsy | 1 test |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 2 tests |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 2 tests |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 2 tests |
| Arts syndrome | 3 tests |
| Asparagine synthetase deficiency | 1 test |
| Aspartylglucosaminuria | 3 tests |
| Asperger syndrome X-linked 1 | 3 tests |
| Asperger syndrome X-linked 2 | 3 tests |
| Asphyxiating thoracic dystrophy 2 | 4 tests |
| Asphyxiating thoracic dystrophy 4 | 3 tests |
| Asphyxiating thoracic dystrophy 5 | 2 tests |
| Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 2 tests |
| Ataxia, sensory, autosomal dominant | 1 test |
| Ataxia, spastic, 1, autosomal dominant | 3 tests |
| Ataxia, spastic, 2, autosomal recessive | 3 tests |
| Ataxia, spastic, 3, autosomal recessive | 2 tests |
| Ataxia, spastic, 4, autosomal recessive | 3 tests |
| Ataxia-oculomotor apraxia 3 | 1 test |
| Ataxia-oculomotor apraxia 4 | 2 tests |
| Ataxia-oculomotor apraxia type 1 | 5 tests |
| Ataxia-pancytopenia syndrome | 4 tests |
| Ataxia-telangiectasia syndrome | 13 tests |
| Ataxia-telangiectasia-like disorder | 6 tests |
| Ataxia-telangiectasia-like disorder 1 | 2 tests |
| Atelosteogenesis type 1 | 2 tests |
| Atelosteogenesis type II | 6 tests |
| Atelosteogenesis type III | 2 tests |
| Atrial fibrillation, familial, 10 | 6 tests |
| Atrial fibrillation, familial, 11 | 4 tests |
| Atrial fibrillation, familial, 12 | 7 tests |
| Atrial fibrillation, familial, 13 | 2 tests |
| Atrial fibrillation, familial, 14 | 5 tests |
| Atrial fibrillation, familial, 18 | 2 tests |
| Atrial fibrillation, familial, 3 | 6 tests |
| Atrial fibrillation, familial, 4 | 4 tests |
| Atrial fibrillation, familial, 6 | 4 tests |
| Atrial fibrillation, familial, 7 | 5 tests |
| Atrial fibrillation, familial, 9 | 5 tests |
| Atrial septal defect 2 | 6 tests |
| Atrial septal defect 3 | 5 tests |
| Atrial septal defect 4 | 1 test |
| Atrial septal defect 5 | 5 tests |
| Atrial septal defect 6 | 1 test |
| Atrial septal defect 7 with or without atrioventricular conduction defects | 5 tests |
| Atrial septal defect 8 | 1 test |
| Atrial septal defect 9 | 3 tests |
| Atrioventricular septal defect 2 | 2 tests |
| Atrioventricular septal defect 3 | 3 tests |
| Atrioventricular septal defect 4 | 6 tests |
| Atrioventricular septal defect 5 | 3 tests |
| Atrophia bulborum hereditaria | 8 tests |
| Atypical mycobacteriosis, familial, X-linked 2 | 2 tests |
| Auditory neuropathy, autosomal dominant, 1 | 1 test |
| Auditory neuropathy-optic atrophy syndrome | 2 tests |
| Aural atresia, congenital | 1 test |
| Autism 15 | 2 tests |
| Autism 17 | 2 tests |
| Autism 5 | 2 tests |
| Autism spectrum disorder | 1 test |
| Autism, susceptibility to, 18 | 5 tests |
| Autism, susceptibility to, X-linked 1 | 3 tests |
| Autism, susceptibility to, X-linked 2 | 4 tests |
| Autism, susceptibility to, X-linked 3 | 4 tests |
| Autism, susceptibility to, X-linked 4 | 3 tests |
| Autism, susceptibility to, X-linked 5 | 1 test |
| Autism, susceptibility to, X-linked 6 | 1 test |
| Autistic disorder of childhood onset | 3 tests |
| Autoimmune disease, multisystem, infantile-onset, 1 | 5 tests |
| Autoimmune disease, multisystem, infantile-onset, 2 | 1 test |
| Autoimmune disease, syndromic multisystem | 1 test |
| Autoimmune lymphoproliferative syndrome | 2 tests |
| Autoimmune lymphoproliferative syndrome type 2B | 1 test |
| Autoimmune lymphoproliferative syndrome type V | 3 tests |
| Autoimmune lymphoproliferative syndrome, type 2A | 1 test |
| Autoimmune lymphoproliferative syndrome, type III | 3 tests |
| Autoinflammation with infantile enterocolitis | 2 tests |
| Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | 2 tests |
| Autoinflammation, immune dysregulation, and eosinophilia | 1 test |
| Autoinflammatory syndrome, familial, Behcet-like | 2 tests |
| Autosomal dominant distal renal tubular acidosis | 4 tests |
| Autosomal dominant hypophosphatemic rickets | 3 tests |
| Autosomal dominant macrothrombocytopenia TUBB1-related | 3 tests |
| Autosomal dominant medullary cystic kidney disease with hyperuricemia | 2 tests |
| Autosomal dominant nonsyndromic deafness 17 | 3 tests |
| Autosomal dominant nonsyndromic deafness 2A | 2 tests |
| Autosomal dominant nonsyndromic deafness 6 | 4 tests |
| Autosomal dominant optic atrophy classic form | 8 tests |
| Autosomal dominant osteopetrosis 1 | 5 tests |
| Autosomal dominant osteopetrosis 2 | 2 tests |
| Autosomal dominant polycystic kidney disease | 7 tests |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 7 tests |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 5 tests |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 6 tests |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 6 tests |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | 6 tests |
| Autosomal dominant pseudohypoaldosteronism type 1 | 2 tests |
| Autosomal dominant torsion dystonia 4 | 4 tests |
| Autosomal recessive DOPA responsive dystonia | 4 tests |
| Autosomal recessive Kenny-Caffey syndrome | 3 tests |
| Autosomal recessive agammaglobulinemia 1 | 2 tests |
| Autosomal recessive axonal neuropathy with neuromyotonia | 3 tests |
| Autosomal recessive congenital ichthyosis 1 | 3 tests |
| Autosomal recessive congenital ichthyosis 10 | 3 tests |
| Autosomal recessive congenital ichthyosis 2 | 3 tests |
| Autosomal recessive congenital ichthyosis 3 | 3 tests |
| Autosomal recessive congenital ichthyosis 4A | 5 tests |
| Autosomal recessive congenital ichthyosis 4B | 4 tests |
| Autosomal recessive congenital ichthyosis 5 | 3 tests |
| Autosomal recessive congenital ichthyosis 6 | 3 tests |
| Autosomal recessive congenital ichthyosis 8 | 2 tests |
| Autosomal recessive congenital ichthyosis 9 | 2 tests |
| Autosomal recessive cutis laxa type 1B | 8 tests |
| Autosomal recessive cutis laxa type 2B | 4 tests |
| Autosomal recessive cutis laxa type 2c | 2 tests |
| Autosomal recessive cutis laxa type 2d | 3 tests |
| Autosomal recessive cutis laxa type 3B | 3 tests |
| Autosomal recessive cutis laxa type IA | 7 tests |
| Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 3 tests |
| Autosomal recessive hypophosphatemic bone disease | 5 tests |
| Autosomal recessive hypophosphatemic vitamin D refractory rickets | 3 tests |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 4 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 3 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 6 tests |
| Autosomal recessive multiple pterygium syndrome | 5 tests |
| Autosomal recessive omodysplasia | 1 test |
| Autosomal recessive osteopetrosis 1 | 3 tests |
| Autosomal recessive osteopetrosis 2 | 2 tests |
| Autosomal recessive osteopetrosis 4 | 2 tests |
| Autosomal recessive osteopetrosis 7 | 2 tests |
| Autosomal recessive polycystic kidney disease | 6 tests |
| Autosomal recessive pseudohypoaldosteronism type 1 | 4 tests |
| Avascular necrosis of the head of femur | 9 tests |
| Avellino corneal dystrophy | 2 tests |
| Axenfeld-Rieger syndrome type 1 | 10 tests |
| Axenfeld-Rieger syndrome type 3 | 6 tests |
| Axenfeld-rieger anomaly | 1 test |
| Axial spondylometaphyseal dysplasia | 2 tests |
| Ayme-gripp syndrome | 5 tests |
| B-cell expansion with NFKB and T-cell anergy | 1 test |
| B4GALT1-CDG | 1 test |
| BCC1 | 3 tests |
| BH4-deficient hyperphenylalaninemia A | 2 tests |
| BLOOD GROUP--LUTHERAN INHIBITOR | 2 tests |
| BNAR syndrome | 3 tests |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | 1 test |
| Bailey-Bloch congenital myopathy | 4 tests |
| Bainbridge-Ropers syndrome | 3 tests |
| Baller-Gerold syndrome | 6 tests |
| Bamforth-Lazarus syndrome | 3 tests |
| Band heterotopia | 3 tests |
| Bannayan-Riley-Ruvalcaba syndrome | 10 tests |
| Baraitser-Winter Syndrome 2 | 5 tests |
| Baraitser-Winter syndrome 1 | 8 tests |
| Barber-Say syndrome | 3 tests |
| Bardet-Biedl syndrome | 15 tests |
| Bardet-Biedl syndrome 1 | 6 tests |
| Bardet-Biedl syndrome 10 | 10 tests |
| Bardet-Biedl syndrome 11 | 8 tests |
| Bardet-Biedl syndrome 12 | 10 tests |
| Bardet-Biedl syndrome 13 | 9 tests |
| Bardet-Biedl syndrome 14 | 5 tests |
| Bardet-Biedl syndrome 15 | 6 tests |
| Bardet-Biedl syndrome 16 | 5 tests |
| Bardet-Biedl syndrome 17 | 6 tests |
| Bardet-Biedl syndrome 18 | 6 tests |
| Bardet-Biedl syndrome 19 | 6 tests |
| Bardet-Biedl syndrome 2 | 9 tests |
| Bardet-Biedl syndrome 20 | 5 tests |
| Bardet-Biedl syndrome 21 | 3 tests |
| Bardet-Biedl syndrome 3 | 4 tests |
| Bardet-Biedl syndrome 4 | 10 tests |
| Bardet-Biedl syndrome 5 | 10 tests |
| Bardet-Biedl syndrome 6 | 1 test |
| Bardet-Biedl syndrome 7 | 10 tests |
| Bardet-Biedl syndrome 8 | 7 tests |
| Bardet-Biedl syndrome 9 | 10 tests |
| Bartsocas-Papas syndrome | 7 tests |
| Bartter disease type 4a | 4 tests |
| Bartter syndrome, type 1, antenatal | 3 tests |
| Bartter syndrome, type 2, antenatal | 3 tests |
| Basal cell carcinoma, susceptibility to, 7 | 4 tests |
| Basal ganglia calcification, idiopathic, 4 | 4 tests |
| Basal ganglia calcification, idiopathic, 6 | 2 tests |
| Basal laminar drusen | 1 test |
| Basan syndrome | 1 test |
| Beare-Stevenson cutis gyrata syndrome | 6 tests |
| Becker muscular dystrophy | 4 tests |
| Beckwith-Wiedemann syndrome | 11 tests |
| Benign familial hematuria | 2 tests |
| Benign familial neonatal seizures 1 | 4 tests |
| Benign familial neonatal seizures 2 | 6 tests |
| Benign hereditary chorea | 2 tests |
| Benign recurrent intrahepatic cholestasis type 2 | 2 tests |
| Bent bone dysplasia syndrome | 9 tests |
| Bernard Soulier syndrome | 8 tests |
| Bernard-Soulier syndrome, type A2, autosomal dominant | 4 tests |
| Bestrophinopathy, autosomal recessive | 7 tests |
| Beta-D-mannosidosis | 2 tests |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 4 tests |
| Bethlem myopathy 1 | 7 tests |
| Bethlem myopathy 2 | 7 tests |
| Beukes hip dysplasia | 1 test |
| Bietti crystalline corneoretinal dystrophy | 2 tests |
| Bifunctional peroxisomal enzyme deficiency | 4 tests |
| Bilateral right-sidedness sequence | 1 test |
| Bile acid malabsorption, primary | 1 test |
| Bile acid synthesis defect, congenital, 3 | 2 tests |
| Bile acid synthesis defect, congenital, 5 | 2 tests |
| Biotin-responsive basal ganglia disease | 8 tests |
| Biotinidase deficiency | 4 tests |
| Blau syndrome | 3 tests |
| Bleeding disorder, platelet-type, 21 | 1 test |
| Bleeding disorder, platelet-type, 22 | 1 test |
| Blepharocheilodontic syndrome 1 | 3 tests |
| Blepharocheilodontic syndrome 2 | 1 test |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 3 tests |
| Blepharophimosis, ptosis, and epicanthus inversus | 6 tests |
| Bloom syndrome | 6 tests |
| Body mass index quantitative trait locus 12 | 2 tests |
| Body mass index quantitative trait locus 18 | 1 test |
| Body mass index quantitative trait locus 4 | 1 test |
| Body mass index quantitative trait locus 9 | 1 test |
| Bohring-Opitz syndrome | 3 tests |
| Bone fragility with contractures, arterial rupture, and deafness | 1 test |
| Bone marrow failure syndrome 1 | 5 tests |
| Bone marrow failure syndrome 2 | 1 test |
| Bone marrow failure syndrome 3 | 2 tests |
| Bone marrow failure syndrome 4 | 1 test |
| Bone marrow failure syndrome 5 | 2 tests |
| Bone mineral density quantitative trait locus 1 | 1 test |
| Bone mineral density quantitative trait locus 16 | 1 test |
| Bone mineral density quantitative trait locus 18 | 5 tests |
| Boomerang dysplasia | 2 tests |
| Borjeson-Forssman-Lehmann syndrome | 7 tests |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 4 tests |
| Bothnia retinal dystrophy | 6 tests |
| Brachydactyly type A2 | 7 tests |
| Brachydactyly type B1 | 5 tests |
| Brachydactyly type B2 | 5 tests |
| Brachydactyly type C | 5 tests |
| Brachydactyly type D | 4 tests |
| Brachydactyly type E1 | 4 tests |
| Brachydactyly type E2 | 1 test |
| Brachydactyly, type a1, c | 3 tests |
| Brachydactyly, type a1, d | 2 tests |
| Brachydactyly-arterial hypertension syndrome | 3 tests |
| Brachydactyly-syndactyly syndrome | 3 tests |
| Brachyrachia (short spine dysplasia) | 1 test |
| Bradyopsia | 4 tests |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 2 tests |
| Brain malformations and urinary tract defects | 1 test |
| Brain small vessel disease 1 with or without ocular anomalies | 11 tests |
| Brain small vessel disease 3 | 3 tests |
| Brain small vessel disease with hemorrhage | 2 tests |
| Branched-chain keto acid dehydrogenase kinase deficiency | 5 tests |
| Branchiooculofacial syndrome | 4 tests |
| Branchiootic syndrome 1 | 5 tests |
| Branchiootic syndrome 3 | 4 tests |
| Branchiootorenal Syndrome 1 | 4 tests |
| Branchiootorenal syndrome 2 | 4 tests |
| Breast-ovarian cancer, familial 1 | 12 tests |
| Breast-ovarian cancer, familial 2 | 15 tests |
| Breast-ovarian cancer, familial 3 | 6 tests |
| Breast-ovarian cancer, familial 4 | 8 tests |
| Brittle cornea syndrome 1 | 4 tests |
| Brittle cornea syndrome 2 | 5 tests |
| Brody myopathy | 2 tests |
| Bronchiectasis with or without elevated sweat chloride 1 | 1 test |
| Brown-Vialetto-Van Laere syndrome 1 | 4 tests |
| Brown-Vialetto-Van Laere syndrome 2 | 4 tests |
| Bruck syndrome 2 | 5 tests |
| Brugada syndrome | 2 tests |
| Brugada syndrome 1 | 7 tests |
| Brugada syndrome 2 | 5 tests |
| Brugada syndrome 3 | 5 tests |
| Brugada syndrome 4 | 6 tests |
| Brugada syndrome 5 | 3 tests |
| Brugada syndrome 6 | 5 tests |
| Brugada syndrome 7 | 5 tests |
| Brugada syndrome 8 | 4 tests |
| Brugada syndrome 9 | 4 tests |
| Brunner syndrome | 4 tests |
| Budd-Chiari syndrome | 1 test |
| Bull's eye macular dystrophy | 1 test |
| Bullous ichthyosiform erythroderma | 3 tests |
| CARASIL | 5 tests |
| CCDC115-CDG | 1 test |
| CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | 1 test |
| CEDNIK syndrome | 2 tests |
| CHARGE association | 20 tests |
| CHIME syndrome | 2 tests |
| CK syndrome | 5 tests |
| CODAS syndrome | 1 test |
| COG1 congenital disorder of glycosylation | 1 test |
| COG7 congenital disorder of glycosylation | 2 tests |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 1 test |
| CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | 1 test |
| CYP2C19-related poor drug metabolism | 1 test |
| Café-au-lait macules with pulmonary stenosis | 4 tests |
| Calcification of joints and arteries | 1 test |
| Calcium oxalate urolithiasis | 2 tests |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 10 tests |
| Camptomelic dysplasia | 12 tests |
| Camptosynpolydactyly, complex | 4 tests |
| Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | 3 tests |
| Capillary malformation-arteriovenous malformation 1 | 2 tests |
| Capillary malformation-arteriovenous malformation 2 | 2 tests |
| Carbonic anhydrase VA deficiency, hyperammonemia due to | 4 tests |
| Carcinoid tumor of intestine | 4 tests |
| Carcinoma of cervix | 4 tests |
| Carcinoma of colon | 7 tests |
| Carcinoma of pancreas | 6 tests |
| Cardiac arrhythmia, ankyrin B-related | 7 tests |
| Cardiac conduction disease with or without dilated cardiomyopathy | 1 test |
| Cardiac valvular dysplasia, X-linked | 11 tests |
| Cardiac, facial, and digital anomalies with developmental delay | 1 test |
| Cardiac-urogenital syndrome | 2 tests |
| Cardio-facio-cutaneous syndrome | 2 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 6 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 5 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 3 tests |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 3 tests |
| Cardiofaciocutaneous syndrome 1 | 8 tests |
| Cardiofaciocutaneous syndrome 2 | 8 tests |
| Cardiofaciocutaneous syndrome 3 | 8 tests |
| Cardiofaciocutaneous syndrome 4 | 8 tests |
| Cardiomyopathy | 1 test |
| Cardiomyopathy, dilated, 1NN | 2 tests |
| Cardiomyopathy, dilated, 2b | 3 tests |
| Cardiomyopathy, dilated, 2c | 1 test |
| Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | 1 test |
| Cardiomyopathy, familial hypertrophic 27 | 2 tests |
| Cardiomyopathy, familial hypertrophic, 26 | 3 tests |
| Carney complex variant | 2 tests |
| Carney complex, type 1 | 5 tests |
| Carney-Stratakis syndrome | 6 tests |
| Carnitine acylcarnitine translocase deficiency | 7 tests |
| Carnitine palmitoyltransferase 1A deficiency | 5 tests |
| Carnitine palmitoyltransferase II deficiency, infantile | 5 tests |
| Carnitine palmitoyltransferase II deficiency, lethal neonatal | 5 tests |
| Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | 5 tests |
| Carpenter syndrome | 1 test |
| Carpenter syndrome 1 | 2 tests |
| Carpenter syndrome 2 | 2 tests |
| Cataract (disease) | 2 tests |
| Cataract 1 | 4 tests |
| Cataract 11 | 5 tests |
| Cataract 12, multiple types | 3 tests |
| Cataract 13 with adult i phenotype | 3 tests |
| Cataract 15, multiple types | 4 tests |
| Cataract 16, multiple types | 3 tests |
| Cataract 18 | 3 tests |
| Cataract 19, multiple types | 4 tests |
| Cataract 20 multiple types | 3 tests |
| Cataract 21, multiple types | 6 tests |
| Cataract 23, multiple types | 5 tests |
| Cataract 3, multiple types | 4 tests |
| Cataract 30 | 3 tests |
| Cataract 31 multiple types | 4 tests |
| Cataract 33, multiple types | 4 tests |
| Cataract 34, multiple types | 5 tests |
| Cataract 39, multiple types | 4 tests |
| Cataract 4 | 2 tests |
| Cataract 40 | 6 tests |
| Cataract 41 | 5 tests |
| Cataract 42 | 1 test |
| Cataract 43 | 1 test |
| Cataract 44 | 1 test |
| Cataract 45 | 2 tests |
| Cataract 5 multiple types | 3 tests |
| Cataract 6, multiple types | 3 tests |
| Cataract Hutterite type | 1 test |
| Cataract, autosomal dominant | 4 tests |
| Cataract, autosomal recessive congenital 4 | 3 tests |
| Cataract, autosomal recessive congenital 5 | 6 tests |
| Cataract, congenital nuclear, autosomal recessive 2 | 4 tests |
| Cataract, congenital nuclear, autosomal recessive 3 | 4 tests |
| Cataract, congenital zonular, with sutural opacities | 4 tests |
| Cataract, juvenile, with microcornea and glucosuria | 3 tests |
| Cataract-intellectual disability-hypogonadism syndrome | 5 tests |
| Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia | 3 tests |
| Catecholaminergic polymorphic ventricular tachycardia type 1 | 4 tests |
| Catel Manzke syndrome | 1 test |
| Celiac disease 3 | 2 tests |
| Cenani-Lenz syndactyly syndrome | 5 tests |
| Central core myopathy | 6 tests |
| Central precocious puberty | 1 test |
| Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | 4 tests |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | 3 tests |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 5 tests |
| Cerebellar atrophy with seizures and variable developmental delay | 2 tests |
| Cerebellar atrophy, developmental delay, and seizures | 4 tests |
| Cerebellar atrophy, visual impairment, and psychomotor retardation | 4 tests |
| Cerebellar, ocular, craniofacial, and genital syndrome | 2 tests |
| Cerebral amyloid angiopathy, APP-related | 1 test |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 4 tests |
| Cerebral arteriovenous malformation | 3 tests |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 3 tests |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | 3 tests |
| Cerebral cavernous malformation | 3 tests |
| Cerebral cavernous malformations 2 | 3 tests |
| Cerebral cavernous malformations 3 | 2 tests |
| Cerebral folate transport deficiency | 9 tests |
| Cerebral palsy, spastic quadriplegic, 1 | 3 tests |
| Cerebral palsy, spastic quadriplegic, 2 | 2 tests |
| Cerebrooculofacioskeletal syndrome 1 | 3 tests |
| Cerebrooculofacioskeletal syndrome 2 | 3 tests |
| Cerebrooculofacioskeletal syndrome 3 | 3 tests |
| Cerebrooculofacioskeletal syndrome 4 | 4 tests |
| Cerebroretinal microangiopathy with calcifications and cysts | 3 tests |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 4 tests |
| Cerebroretinal microangiopathy with calcifications and cysts 2 | 2 tests |
| Ceroid lipofuscinosis neuronal 2 | 7 tests |
| Ceroid lipofuscinosis, neuronal, 11 | 7 tests |
| Ceroid lipofuscinosis, neuronal, 13 | 4 tests |
| Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 6 tests |
| Char syndrome | 3 tests |
| Charcot-Marie-Tooth Neuropathy X Type 1 | 4 tests |
| Charcot-Marie-Tooth disease axonal type 2C | 7 tests |
| Charcot-Marie-Tooth disease axonal type 2F | 5 tests |
| Charcot-Marie-Tooth disease dominant intermediate d | 4 tests |
| Charcot-Marie-Tooth disease type 2B | 5 tests |
| Charcot-Marie-Tooth disease type 2B1 | 7 tests |
| Charcot-Marie-Tooth disease type 2B2 | 4 tests |
| Charcot-Marie-Tooth disease type 2D | 6 tests |
| Charcot-Marie-Tooth disease type 2E | 5 tests |
| Charcot-Marie-Tooth disease type 2I | 5 tests |
| Charcot-Marie-Tooth disease type 2J | 5 tests |
| Charcot-Marie-Tooth disease type 2K | 4 tests |
| Charcot-Marie-Tooth disease type 2P | 3 tests |
| Charcot-Marie-Tooth disease, X-linked dominant, 6 | 5 tests |
| Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 7 tests |
| Charcot-Marie-Tooth disease, axonal type 2V | 1 test |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 2 tests |
| Charcot-Marie-Tooth disease, axonal, type 2CC | 2 tests |
| Charcot-Marie-Tooth disease, axonal, type 2O | 7 tests |
| Charcot-Marie-Tooth disease, axonal, type 2Q | 4 tests |
| Charcot-Marie-Tooth disease, axonal, type 2R | 4 tests |
| Charcot-Marie-Tooth disease, axonal, type 2S | 3 tests |
| Charcot-Marie-Tooth disease, axonal, type 2T | 1 test |
| Charcot-Marie-Tooth disease, axonal, type 2u | 4 tests |
| Charcot-Marie-Tooth disease, axonal, type 2w | 1 test |
| Charcot-Marie-Tooth disease, axonal, type 2y | 3 tests |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 4 tests |
| Charcot-Marie-Tooth disease, demyelinating, type 1b | 5 tests |
| Charcot-Marie-Tooth disease, demyelinating, type 1d | 2 tests |
| Charcot-Marie-Tooth disease, demyelinating, type 1f | 5 tests |
| Charcot-Marie-Tooth disease, demyelinating, type 4F | 6 tests |
| Charcot-Marie-Tooth disease, dominant intermediate B | 5 tests |
| Charcot-Marie-Tooth disease, dominant intermediate C | 4 tests |
| Charcot-Marie-Tooth disease, dominant intermediate E | 5 tests |
| Charcot-Marie-Tooth disease, dominant intermediate F | 5 tests |
| Charcot-Marie-Tooth disease, recessive intermediate A | 4 tests |
| Charcot-Marie-Tooth disease, recessive intermediate B | 7 tests |
| Charcot-Marie-Tooth disease, recessive intermediate c | 4 tests |
| Charcot-Marie-Tooth disease, recessive intermediate d | 6 tests |
| Charcot-Marie-Tooth disease, type 1C | 4 tests |
| Charcot-Marie-Tooth disease, type 2 | 1 test |
| Charcot-Marie-Tooth disease, type 2A2A | 8 tests |
| Charcot-Marie-Tooth disease, type 2L | 6 tests |
| Charcot-Marie-Tooth disease, type 2N | 4 tests |
| Charcot-Marie-Tooth disease, type 4A | 4 tests |
| Charcot-Marie-Tooth disease, type 4B1 | 5 tests |
| Charcot-Marie-Tooth disease, type 4B2 | 7 tests |
| Charcot-Marie-Tooth disease, type 4B3 | 7 tests |
| Charcot-Marie-Tooth disease, type 4C | 5 tests |
| Charcot-Marie-Tooth disease, type 4D | 5 tests |
| Charcot-Marie-Tooth disease, type 4H | 4 tests |
| Charcot-Marie-Tooth disease, type 4J | 9 tests |
| Charcot-Marie-Tooth disease, type 4k | 2 tests |
| Charcot-Marie-Tooth disease, type IA | 4 tests |
| Charcot-marie-tooth disease, axonal, type 2ee | 2 tests |
| Charlevoix-Saguenay spastic ataxia | 3 tests |
| Child syndrome | 6 tests |
| Childhood hypophosphatasia | 6 tests |
| Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 2 tests |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 test |
| Choanal atresia and lymphedema | 1 test |
| Cholestanol storage disease | 8 tests |
| Cholestasis, benign recurrent intrahepatic 1 | 2 tests |
| Cholestasis, progressive familial intrahepatic, 5 | 1 test |
| Cholesterol monooxygenase (side-chain cleaving) deficiency | 6 tests |
| Chondrodysplasia Blomstrand type | 2 tests |
| Chondrodysplasia punctata | 1 test |
| Chondrodysplasia punctata 2 X-linked dominant | 7 tests |
| Chondrodysplasia with joint dislocations, GPAPP type | 2 tests |
| Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | 2 tests |
| Chops syndrome | 3 tests |
| Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 5 tests |
| Choroid plexus papilloma | 7 tests |
| Choroidal dystrophy, central areolar 2 | 1 test |
| Choroideremia | 7 tests |
| Christianson syndrome | 9 tests |
| Chromosome 17q11.2 deletion syndrome, 1.4 MB | 1 test |
| Chromosome 2q32-q33 deletion syndrome | 4 tests |
| Chromosome Xq28 deletion syndrome | 1 test |
| Chronic granulomatous disease | 1 test |
| Chronic granulomatous disease, X-linked | 4 tests |
| Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | 3 tests |
| Chronic infantile neurological, cutaneous and articular syndrome | 3 tests |
| Chronic pancreatitis | 1 test |
| Chudley-McCullough syndrome | 4 tests |
| Chylomicron retention disease | 1 test |
| Chédiak-Higashi syndrome | 9 tests |
| Ciliary dyskinesia, primary, 10 | 5 tests |
| Ciliary dyskinesia, primary, 11 | 4 tests |
| Ciliary dyskinesia, primary, 12 | 4 tests |
| Ciliary dyskinesia, primary, 13 | 5 tests |
| Ciliary dyskinesia, primary, 14 | 5 tests |
| Ciliary dyskinesia, primary, 15 | 5 tests |
| Ciliary dyskinesia, primary, 16 | 5 tests |
| Ciliary dyskinesia, primary, 17 | 5 tests |
| Ciliary dyskinesia, primary, 18 | 5 tests |
| Ciliary dyskinesia, primary, 19 | 5 tests |
| Ciliary dyskinesia, primary, 2 | 5 tests |
| Ciliary dyskinesia, primary, 20 | 5 tests |
| Ciliary dyskinesia, primary, 21 | 4 tests |
| Ciliary dyskinesia, primary, 22 | 5 tests |
| Ciliary dyskinesia, primary, 26 | 5 tests |
| Ciliary dyskinesia, primary, 27 | 4 tests |
| Ciliary dyskinesia, primary, 28 | 5 tests |
| Ciliary dyskinesia, primary, 29 | 4 tests |
| Ciliary dyskinesia, primary, 3 | 5 tests |
| Ciliary dyskinesia, primary, 30 | 5 tests |
| Ciliary dyskinesia, primary, 32 | 4 tests |
| Ciliary dyskinesia, primary, 33 | 5 tests |
| Ciliary dyskinesia, primary, 34 | 4 tests |
| Ciliary dyskinesia, primary, 35 | 5 tests |
| Ciliary dyskinesia, primary, 36, X-linked | 4 tests |
| Ciliary dyskinesia, primary, 37 | 4 tests |
| Ciliary dyskinesia, primary, 38 | 3 tests |
| Ciliary dyskinesia, primary, 39 | 3 tests |
| Ciliary dyskinesia, primary, 40 | 5 tests |
| Ciliary dyskinesia, primary, 41 | 3 tests |
| Ciliary dyskinesia, primary, 42 | 3 tests |
| Ciliary dyskinesia, primary, 43 | 4 tests |
| Ciliary dyskinesia, primary, 45 | 3 tests |
| Ciliary dyskinesia, primary, 6 | 5 tests |
| Ciliary dyskinesia, primary, 7 | 5 tests |
| Ciliary dyskinesia, primary, 9 | 5 tests |
| Ciliopathy | 1 test |
| Citrullinemia type I | 3 tests |
| Citrullinemia type II | 7 tests |
| Clark-Baraitser syndrome | 2 tests |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 tests |
| Classic homocystinuria | 10 tests |
| Cleft lip/palate-ectodermal dysplasia syndrome | 3 tests |
| Cleft palate with or without ankyloglossia, X-linked | 2 tests |
| Cleft palate, cardiac defects, and mental retardation | 5 tests |
| Cleft palate, psychomotor retardation, and distinctive facial features | 3 tests |
| Cleidocranial dysostosis | 2 tests |
| Clubfoot | 2 tests |
| Cobalamin C disease | 6 tests |
| Cockayne syndrome B | 3 tests |
| Cockayne syndrome type A | 5 tests |
| Cocoon syndrome | 1 test |
| Coenzyme Q10 deficiency, primary | 5 tests |
| Coenzyme Q10 deficiency, primary 1 | 2 tests |
| Coenzyme Q10 deficiency, primary, 2 | 3 tests |
| Coenzyme Q10 deficiency, primary, 3 | 5 tests |
| Coenzyme Q10 deficiency, primary, 4 | 3 tests |
| Coenzyme Q10 deficiency, primary, 5 | 6 tests |
| Coenzyme Q10 deficiency, primary, 6 | 4 tests |
| Coenzyme Q10 deficiency, primary, 7 | 4 tests |
| Coenzyme Q10 deficiency, primary, 8 | 1 test |
| Coffin-Lowry syndrome | 2 tests |
| Coffin-Siris syndrome | 1 test |
| Coffin-Siris syndrome 1 | 9 tests |
| Coffin-Siris syndrome 5 | 4 tests |
| Coffin-Siris syndrome 7 | 1 test |
| Coffin-Siris syndrome 8 | 1 test |
| Cognitive impairment with or without cerebellar ataxia | 4 tests |
| Cohen syndrome | 10 tests |
| Cohen-Gibson syndrome | 1 test |
| Colchicine resistance | 1 test |
| Cole disease | 2 tests |
| Cole-Carpenter syndrome 1 | 1 test |
| Cole-Carpenter syndrome 2 | 5 tests |
| Collagen VI-related myopathy | 2 tests |
| Coloboma of optic disc | 5 tests |
| Coloboma, ocular, autosomal dominant | 2 tests |
| Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation | 2 tests |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 2 tests |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 4 tests |
| Colorectal cancer | 4 tests |
| Colorectal cancer 1 | 2 tests |
| Colorectal cancer 10 | 8 tests |
| Colorectal cancer, susceptibility to, 12 | 4 tests |
| Combined cellular and humoral immune defects with granulomas | 3 tests |
| Combined d-2- and l-2-hydroxyglutaric aciduria | 5 tests |
| Combined deficiency of factor V and factor VIII, 1 | 3 tests |
| Combined deficiency of sialidase AND beta galactosidase | 7 tests |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 1 test |
| Combined immunodeficiency due to STIM1 deficiency | 2 tests |
| Combined immunodeficiency due to ZAP70 deficiency | 1 test |
| Combined immunodeficiency, X-linked | 3 tests |
| Combined malonic and methylmalonic aciduria | 6 tests |
| Combined oxidative phosphorylation deficiency 1 | 5 tests |
| Combined oxidative phosphorylation deficiency 10 | 2 tests |
| Combined oxidative phosphorylation deficiency 11 | 1 test |
| Combined oxidative phosphorylation deficiency 12 | 4 tests |
| Combined oxidative phosphorylation deficiency 13 | 3 tests |
| Combined oxidative phosphorylation deficiency 14 | 7 tests |
| Combined oxidative phosphorylation deficiency 15 | 4 tests |
| Combined oxidative phosphorylation deficiency 16 | 1 test |
| Combined oxidative phosphorylation deficiency 17 | 1 test |
| Combined oxidative phosphorylation deficiency 18 | 1 test |
| Combined oxidative phosphorylation deficiency 19 | 1 test |
| Combined oxidative phosphorylation deficiency 2 | 1 test |
| Combined oxidative phosphorylation deficiency 20 | 1 test |
| Combined oxidative phosphorylation deficiency 21 | 1 test |
| Combined oxidative phosphorylation deficiency 22 | 2 tests |
| Combined oxidative phosphorylation deficiency 23 | 2 tests |
| Combined oxidative phosphorylation deficiency 24 | 3 tests |
| Combined oxidative phosphorylation deficiency 25 | 1 test |
| Combined oxidative phosphorylation deficiency 26 | 2 tests |
| Combined oxidative phosphorylation deficiency 27 | 3 tests |
| Combined oxidative phosphorylation deficiency 28 | 1 test |
| Combined oxidative phosphorylation deficiency 3 | 4 tests |
| Combined oxidative phosphorylation deficiency 30 | 2 tests |
| Combined oxidative phosphorylation deficiency 31 | 1 test |
| Combined oxidative phosphorylation deficiency 32 | 1 test |
| Combined oxidative phosphorylation deficiency 33 | 2 tests |
| Combined oxidative phosphorylation deficiency 34 | 2 tests |
| Combined oxidative phosphorylation deficiency 35 | 1 test |
| Combined oxidative phosphorylation deficiency 36 | 2 tests |
| Combined oxidative phosphorylation deficiency 37 | 2 tests |
| Combined oxidative phosphorylation deficiency 38 | 1 test |
| Combined oxidative phosphorylation deficiency 39 | 1 test |
| Combined oxidative phosphorylation deficiency 4 | 2 tests |
| Combined oxidative phosphorylation deficiency 40 | 1 test |
| Combined oxidative phosphorylation deficiency 41 | 2 tests |
| Combined oxidative phosphorylation deficiency 42 | 1 test |
| Combined oxidative phosphorylation deficiency 43 | 1 test |
| Combined oxidative phosphorylation deficiency 44 | 1 test |
| Combined oxidative phosphorylation deficiency 46 | 1 test |
| Combined oxidative phosphorylation deficiency 47 | 1 test |
| Combined oxidative phosphorylation deficiency 5 | 3 tests |
| Combined oxidative phosphorylation deficiency 6 | 5 tests |
| Combined oxidative phosphorylation deficiency 7 | 6 tests |
| Combined oxidative phosphorylation deficiency 8 | 3 tests |
| Combined oxidative phosphorylation deficiency 9 | 2 tests |
| Combined saposin deficiency | 3 tests |
| Common variable immunodeficiency 1 | 4 tests |
| Common variable immunodeficiency 10 | 4 tests |
| Common variable immunodeficiency 11 | 3 tests |
| Common variable immunodeficiency 2 | 3 tests |
| Common variable immunodeficiency 3 | 2 tests |
| Common variable immunodeficiency 4 | 2 tests |
| Common variable immunodeficiency 5 | 2 tests |
| Common variable immunodeficiency 6 | 2 tests |
| Common variable immunodeficiency 7 | 2 tests |
| Common variable immunodeficiency 8, with autoimmunity | 5 tests |
| Complement component 4, partial deficiency of | 1 test |
| Complete trisomy 21 syndrome | 2 tests |
| Complex V deficiency | 1 test |
| Cone dystrophy 3 | 3 tests |
| Cone dystrophy 4 | 4 tests |
| Cone dystrophy with supernormal rod response | 3 tests |
| Cone-rod dystrophy | 1 test |
| Cone-rod dystrophy 10 | 2 tests |
| Cone-rod dystrophy 11 | 3 tests |
| Cone-rod dystrophy 12 | 2 tests |
| Cone-rod dystrophy 13 | 6 tests |
| Cone-rod dystrophy 15 | 5 tests |
| Cone-rod dystrophy 16 | 6 tests |
| Cone-rod dystrophy 18 | 2 tests |
| Cone-rod dystrophy 19 | 2 tests |
| Cone-rod dystrophy 2 | 5 tests |
| Cone-rod dystrophy 20 | 3 tests |
| Cone-rod dystrophy 21 | 3 tests |
| Cone-rod dystrophy 3 | 4 tests |
| Cone-rod dystrophy 5 | 5 tests |
| Cone-rod dystrophy 6 | 5 tests |
| Cone-rod dystrophy 7 | 3 tests |
| Cone-rod dystrophy 9 | 3 tests |
| Cone-rod dystrophy and hearing loss | 2 tests |
| Cone-rod dystrophy and hearing loss 2 | 1 test |
| Cone-rod dystrophy, X-linked 1 | 4 tests |
| Congenital absence of salivary gland | 3 tests |
| Congenital adrenal hypoplasia, X-linked | 7 tests |
| Congenital amegakaryocytic thrombocytopenia | 5 tests |
| Congenital aneurysm of ascending aorta | 1 test |
| Congenital anomalies of kidney and urinary tract | 2 tests |
| Congenital anomalies of kidney and urinary tract 1, susceptibility to | 3 tests |
| Congenital anomalies of kidney and urinary tract 3 | 1 test |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 2 tests |
| Congenital anomalies of kidney and urinary tract type 2 | 1 test |
| Congenital anomaly of eye | 1 test |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 5 tests |
| Congenital bile acid synthesis defect 1 | 2 tests |
| Congenital bile acid synthesis defect 2 | 2 tests |
| Congenital bile acid synthesis defect 4 | 3 tests |
| Congenital brain dysgenesis due to glutamine synthetase deficiency | 2 tests |
| Congenital cataracts, hearing loss, and neurodegeneration | 5 tests |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 7 tests |
| Congenital central hypoventilation | 12 tests |
| Congenital contractural arachnodactyly | 8 tests |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 6 tests |
| Congenital defect of folate absorption | 4 tests |
| Congenital disorder of deglycosylation | 5 tests |
| Congenital disorder of glycosylation type 1C | 4 tests |
| Congenital disorder of glycosylation type 1E | 7 tests |
| Congenital disorder of glycosylation type 1M | 4 tests |
| Congenital disorder of glycosylation type 1N | 1 test |
| Congenital disorder of glycosylation type 1O | 5 tests |
| Congenital disorder of glycosylation type 1P | 1 test |
| Congenital disorder of glycosylation type 1Q | 3 tests |
| Congenital disorder of glycosylation type 1t | 5 tests |
| Congenital disorder of glycosylation type 1u | 5 tests |
| Congenital disorder of glycosylation type 1w | 1 test |
| Congenital disorder of glycosylation type 1x | 1 test |
| Congenital disorder of glycosylation type 1y | 2 tests |
| Congenital disorder of glycosylation type 2B | 3 tests |
| Congenital disorder of glycosylation type 2F | 1 test |
| Congenital disorder of glycosylation type 2H | 1 test |
| Congenital disorder of glycosylation type 2J | 2 tests |
| Congenital disorder of glycosylation type 2L | 2 tests |
| Congenital disorder of glycosylation type 2i | 2 tests |
| Congenital disorder of glycosylation type 2k | 1 test |
| Congenital disorder of glycosylation type Ir | 1 test |
| Congenital disorder of glycosylation with defective fucosylation 1 | 1 test |
| Congenital disorder of glycosylation, type IIa | 2 tests |
| Congenital disorder of glycosylation, type IIr | 2 tests |
| Congenital disorder of glycosylation, type Ia | 5 tests |
| Congenital disorder of glycosylation, type Iaa | 2 tests |
| Congenital dyserythropoietic anemia type type 1B | 3 tests |
| Congenital dyserythropoietic anemia, type I | 5 tests |
| Congenital dyserythropoietic anemia, type II | 5 tests |
| Congenital dyserythropoietic anemia, type IV | 5 tests |
| Congenital erythropoietic porphyria | 4 tests |
| Congenital fibrosis of extraocular muscles | 1 test |
| Congenital generalized lipodystrophy type 1 | 3 tests |
| Congenital generalized lipodystrophy type 2 | 3 tests |
| Congenital glucose-galactose malabsorption | 1 test |
| Congenital heart defects | 1 test |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 tests |
| Congenital heart defects, hamartomas of tongue, and polysyndactyly | 2 tests |
| Congenital heart defects, multiple types, 2 | 1 test |
| Congenital heart defects, multiple types, 4 | 2 tests |
| Congenital heart defects, multiple types, 5 | 1 test |
| Congenital heart defects, multiple types, 7 | 1 test |
| Congenital heart disease | 3 tests |
| Congenital hydrocephalus 1 | 2 tests |
| Congenital hyperammonemia, type I | 4 tests |
| Congenital hypomyelinating neuropathy | 5 tests |
| Congenital hypomyelinating neuropathy 3 | 1 test |
| Congenital hypothyroidism | 1 test |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 1 test |
| Congenital hypotrichosis with juvenile macular dystrophy | 2 tests |
| Congenital lactase deficiency | 1 test |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 5 tests |
| Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | 3 tests |
| Congenital macrodactylia | 3 tests |
| Congenital microvillous atrophy | 1 test |
| Congenital muscular dystrophy, LMNA-related | 5 tests |
| Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 5 tests |
| Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 6 tests |
| Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 8 tests |
| Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 9 tests |
| Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 9 tests |
| Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 5 tests |
| Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 4 tests |
| Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 | 6 tests |
| Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 5 tests |
| Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 | 5 tests |
| Congenital muscular hypertrophy-cerebral syndrome | 13 tests |
| Congenital myasthenic syndrome 12 | 3 tests |
| Congenital myasthenic syndrome 13 | 4 tests |
| Congenital myasthenic syndrome 1A | 2 tests |
| Congenital myasthenic syndrome 1B, fast-channel | 7 tests |
| Congenital myasthenic syndrome 3B | 3 tests |
| Congenital myasthenic syndrome 4C | 4 tests |
| Congenital myasthenic syndrome, acetazolamide-responsive | 2 tests |
| Congenital myopathy | 1 test |
| Congenital myopathy with fiber type disproportion | 6 tests |
| Congenital myotonia, autosomal dominant form | 2 tests |
| Congenital myotonia, autosomal recessive form | 2 tests |
| Congenital ocular coloboma | 3 tests |
| Congenital plasminogen activator inhibitor type 1 deficiency | 2 tests |
| Congenital primary aphakia | 8 tests |
| Congenital secretory diarrhea, chloride type | 1 test |
| Congenital secretory diarrhea, sodium type | 2 tests |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 3 tests |
| Congenital stationary night blindness, autosomal dominant 1 | 4 tests |
| Congenital stationary night blindness, autosomal dominant 2 | 4 tests |
| Congenital stationary night blindness, autosomal dominant 3 | 2 tests |
| Congenital stationary night blindness, type 1A | 3 tests |
| Congenital stationary night blindness, type 1B | 2 tests |
| Congenital stationary night blindness, type 1C | 2 tests |
| Congenital stationary night blindness, type 1D | 4 tests |
| Congenital stationary night blindness, type 1E | 2 tests |
| Congenital stationary night blindness, type 1F | 3 tests |
| Congenital stationary night blindness, type 2A | 4 tests |
| Congenital stationary night blindness, type 2B | 6 tests |
| Congenital stromal corneal dystrophy | 2 tests |
| Conotruncal heart malformations | 9 tests |
| Contiguous abcd1/dxs1375e deletion syndrome | 1 test |
| Contractures, pterygia, and variable skeletal fusions syndrome 1A | 4 tests |
| Cornea plana 2 | 2 tests |
| Corneal dystrophy, Fuchs endothelial 1 | 3 tests |
| Corneal dystrophy, Fuchs endothelial, 3 | 5 tests |
| Corneal dystrophy, Fuchs endothelial, 4 | 1 test |
| Corneal dystrophy, Fuchs endothelial, 6 | 2 tests |
| Corneal dystrophy, Fuchs endothelial, 8 | 2 tests |
| Corneal dystrophy, lattice type 3A | 2 tests |
| Corneal dystrophy, posterior polymorphous 4 | 2 tests |
| Corneal dystrophy, posterior polymorphous, 2 | 3 tests |
| Corneal dystrophy-perceptive deafness syndrome | 1 test |
| Corneal endothelial dystrophy | 2 tests |
| Corneal epithelial dystrophy | 2 tests |
| Cornelia de Lange syndrome 1 | 9 tests |
| Cornelia de Lange syndrome 3 | 7 tests |
| Cornelia de Lange syndrome 4 | 9 tests |
| Cornelia de Lange syndrome 5 | 8 tests |
| Corpus callosum agenesis-abnormal genitalia syndrome | 9 tests |
| Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia | 2 tests |
| Corpus callosum, partial agenesis of, X-linked | 3 tests |
| Cortical dysplasia, complex, with other brain malformations 1 | 6 tests |
| Cortical dysplasia, complex, with other brain malformations 10 | 2 tests |
| Cortical dysplasia, complex, with other brain malformations 2 | 4 tests |
| Cortical dysplasia, complex, with other brain malformations 3 | 3 tests |
| Cortical dysplasia, complex, with other brain malformations 4 | 5 tests |
| Cortical dysplasia, complex, with other brain malformations 5 | 3 tests |
| Cortical dysplasia, complex, with other brain malformations 6 | 3 tests |
| Cortical dysplasia, complex, with other brain malformations 9 | 2 tests |
| Cortical malformations, occipital | 2 tests |
| Costello syndrome | 11 tests |
| Cowchock syndrome | 5 tests |
| Cowden syndrome | 5 tests |
| Cowden syndrome 1 | 18 tests |
| Cowden syndrome 3 | 1 test |
| Cowden syndrome 5 | 5 tests |
| Cowden syndrome 6 | 1 test |
| Cowden syndrome 7 | 2 tests |
| Coxa plana | 11 tests |
| Coxopodopatellar syndrome | 2 tests |
| Craniodiaphyseal dysplasia, autosomal dominant | 1 test |
| Cranioectodermal dysplasia 1 | 4 tests |
| Cranioectodermal dysplasia 2 | 5 tests |
| Cranioectodermal dysplasia 3 | 2 tests |
| Cranioectodermal dysplasia 4 | 2 tests |
| Craniofacial anomalies and anterior segment dysgenesis syndrome | 2 tests |
| Craniofacial-deafness-hand syndrome | 5 tests |
| Craniofrontonasal syndrome | 8 tests |
| Craniolenticulosutural dysplasia | 1 test |
| Craniometaphyseal dysplasia, autosomal recessive | 3 tests |
| Craniosynostosis 1 | 9 tests |
| Craniosynostosis 2 | 2 tests |
| Craniosynostosis 3 | 5 tests |
| Craniosynostosis 5, susceptibility to | 1 test |
| Craniosynostosis and dental anomalies | 1 test |
| Craniosynostosis syndrome | 1 test |
| Creatine transporter deficiency | 4 tests |
| Crigler-Najjar syndrome | 1 test |
| Crigler-Najjar syndrome, type II | 1 test |
| Cromer blood group system | 1 test |
| Crouzon syndrome | 10 tests |
| Crouzon syndrome with acanthosis nigricans | 9 tests |
| Cryptophthalmos syndrome | 6 tests |
| Cryptophthalmos, unilateral or bilateral, isolated | 3 tests |
| Cryptorchidism | 3 tests |
| Culler-Jones syndrome | 7 tests |
| Curly hair, ankyloblepharon, nail dysplasia syndrome | 3 tests |
| Currarino triad | 2 tests |
| Curry-Hall syndrome | 5 tests |
| Curry-Jones syndrome | 3 tests |
| Cutaneous malignant melanoma 1 | 1 test |
| Cutaneous malignant melanoma 2 | 3 tests |
| Cutaneous malignant melanoma 3 | 5 tests |
| Cutaneous malignant melanoma 8 | 5 tests |
| Cutaneous malignant melanoma 9 | 3 tests |
| Cutaneous telangiectasia and cancer syndrome, familial | 1 test |
| Cutis laxa with osteodystrophy | 8 tests |
| Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | 4 tests |
| Cutis laxa, X-linked | 5 tests |
| Cutis laxa, autosomal dominant 1 | 6 tests |
| Cutis laxa, autosomal dominant 2 | 6 tests |
| Cutis laxa, autosomal dominant 3 | 4 tests |
| Cutis laxa, autosomal recessive IIIA | 1 test |
| Cyclical neutropenia | 4 tests |
| Cystathioninuria | 1 test |
| Cystic fibrosis | 7 tests |
| Cystinuria | 5 tests |
| Czech dysplasia, metatarsal type | 12 tests |
| D-2-hydroxyglutaric aciduria 1 | 5 tests |
| D-2-hydroxyglutaric aciduria 2 | 4 tests |
| DE SANCTIS-CACCHIONE SYNDROME | 1 test |
| DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 7 tests |
| DOORS syndrome | 5 tests |
| DPAGT1-CDG | 3 tests |
| Danon disease | 9 tests |
| De Lange syndrome | 3 tests |
| Deafness and myopia | 1 test |
| Deafness dystonia syndrome | 6 tests |
| Deafness enamel hypoplasia nail defects | 8 tests |
| Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 2 tests |
| Deafness, X-linked 1 | 3 tests |
| Deafness, X-linked 2 | 2 tests |
| Deafness, X-linked 4 | 2 tests |
| Deafness, X-linked 5 | 4 tests |
| Deafness, X-linked 6 | 4 tests |
| Deafness, autosomal dominant 1 | 4 tests |
| Deafness, autosomal dominant 10 | 3 tests |
| Deafness, autosomal dominant 11 | 1 test |
| Deafness, autosomal dominant 12 | 2 tests |
| Deafness, autosomal dominant 13 | 4 tests |
| Deafness, autosomal dominant 15 | 2 tests |
| Deafness, autosomal dominant 20 | 2 tests |
| Deafness, autosomal dominant 22 | 4 tests |
| Deafness, autosomal dominant 23 | 1 test |
| Deafness, autosomal dominant 25 | 2 tests |
| Deafness, autosomal dominant 27 | 1 test |
| Deafness, autosomal dominant 28 | 2 tests |
| Deafness, autosomal dominant 2b | 2 tests |
| Deafness, autosomal dominant 34, with or without inflammation | 1 test |
| Deafness, autosomal dominant 36 | 2 tests |
| Deafness, autosomal dominant 37 | 1 test |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
| Deafness, autosomal dominant 3a | 3 tests |
| Deafness, autosomal dominant 3b | 2 tests |
| Deafness, autosomal dominant 4 | 2 tests |
| Deafness, autosomal dominant 40 | 2 tests |
| Deafness, autosomal dominant 41 | 1 test |
| Deafness, autosomal dominant 44 | 2 tests |
| Deafness, autosomal dominant 4b | 2 tests |
| Deafness, autosomal dominant 5 | 1 test |
| Deafness, autosomal dominant 50 | 1 test |
| Deafness, autosomal dominant 51 | 1 test |
| Deafness, autosomal dominant 56 | 1 test |
| Deafness, autosomal dominant 64 | 2 tests |
| Deafness, autosomal dominant 65 | 2 tests |
| Deafness, autosomal dominant 66 | 1 test |
| Deafness, autosomal dominant 67 | 1 test |
| Deafness, autosomal dominant 68 | 1 test |
| Deafness, autosomal dominant 69 | 2 tests |
| Deafness, autosomal dominant 70 | 1 test |
| Deafness, autosomal dominant 71 | 2 tests |
| Deafness, autosomal dominant 72 | 1 test |
| Deafness, autosomal dominant 73 | 1 test |
| Deafness, autosomal dominant 74 | 1 test |
| Deafness, autosomal dominant 9 | 2 tests |
| Deafness, autosomal recessive 101 | 1 test |
| Deafness, autosomal recessive 102 | 1 test |
| Deafness, autosomal recessive 103 | 1 test |
| Deafness, autosomal recessive 104 | 1 test |
| Deafness, autosomal recessive 106 | 1 test |
| Deafness, autosomal recessive 107 | 1 test |
| Deafness, autosomal recessive 108 | 1 test |
| Deafness, autosomal recessive 110 | 1 test |
| Deafness, autosomal recessive 111 | 1 test |
| Deafness, autosomal recessive 112 | 1 test |
| Deafness, autosomal recessive 115 | 1 test |
| Deafness, autosomal recessive 12 | 1 test |
| Deafness, autosomal recessive 15 | 2 tests |
| Deafness, autosomal recessive 16 | 3 tests |
| Deafness, autosomal recessive 18 | 1 test |
| Deafness, autosomal recessive 18b | 1 test |
| Deafness, autosomal recessive 1A | 5 tests |
| Deafness, autosomal recessive 1b | 2 tests |
| Deafness, autosomal recessive 2 | 1 test |
| Deafness, autosomal recessive 21 | 2 tests |
| Deafness, autosomal recessive 22 | 2 tests |
| Deafness, autosomal recessive 23 | 2 tests |
| Deafness, autosomal recessive 24 | 2 tests |
| Deafness, autosomal recessive 25 | 2 tests |
| Deafness, autosomal recessive 28 | 2 tests |
| Deafness, autosomal recessive 29 | 2 tests |
| Deafness, autosomal recessive 3 | 2 tests |
| Deafness, autosomal recessive 30 | 2 tests |
| Deafness, autosomal recessive 31 | 1 test |
| Deafness, autosomal recessive 32 | 1 test |
| Deafness, autosomal recessive 35 | 2 tests |
| Deafness, autosomal recessive 36, with or without vestibular involvement | 1 test |
| Deafness, autosomal recessive 37 | 2 tests |
| Deafness, autosomal recessive 39 | 2 tests |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | 6 tests |
| Deafness, autosomal recessive 42 | 2 tests |
| Deafness, autosomal recessive 44 | 1 test |
| Deafness, autosomal recessive 48 | 2 tests |
| Deafness, autosomal recessive 49 | 2 tests |
| Deafness, autosomal recessive 53 | 3 tests |
| Deafness, autosomal recessive 57 | 1 test |
| Deafness, autosomal recessive 59 | 2 tests |
| Deafness, autosomal recessive 6 | 2 tests |
| Deafness, autosomal recessive 61 | 2 tests |
| Deafness, autosomal recessive 63 | 2 tests |
| Deafness, autosomal recessive 66 | 1 test |
| Deafness, autosomal recessive 67 | 2 tests |
| Deafness, autosomal recessive 68 | 1 test |
| Deafness, autosomal recessive 7 | 2 tests |
| Deafness, autosomal recessive 70 | 2 tests |
| Deafness, autosomal recessive 74 | 2 tests |
| Deafness, autosomal recessive 76 | 1 test |
| Deafness, autosomal recessive 77 | 3 tests |
| Deafness, autosomal recessive 79 | 1 test |
| Deafness, autosomal recessive 8 | 2 tests |
| Deafness, autosomal recessive 84 | 1 test |
| Deafness, autosomal recessive 84b | 1 test |
| Deafness, autosomal recessive 86 | 2 tests |
| Deafness, autosomal recessive 88 | 1 test |
| Deafness, autosomal recessive 89 | 2 tests |
| Deafness, autosomal recessive 9 | 2 tests |
| Deafness, autosomal recessive 91 | 2 tests |
| Deafness, autosomal recessive 93 | 1 test |
| Deafness, autosomal recessive 94 | 1 test |
| Deafness, autosomal recessive 97 | 1 test |
| Deafness, autosomal recessive 98 | 1 test |
| Deafness, congenital heart defects, and posterior embryotoxon | 1 test |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 3 tests |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 7 tests |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 9 tests |
| Deficiency of acetyl-CoA acetyltransferase | 7 tests |
| Deficiency of alpha-mannosidase | 2 tests |
| Deficiency of aromatic-L-amino-acid decarboxylase | 3 tests |
| Deficiency of butyryl-CoA dehydrogenase | 5 tests |
| Deficiency of butyrylcholine esterase | 1 test |
| Deficiency of cytochrome-b5 reductase | 1 test |
| Deficiency of ferroxidase | 5 tests |
| Deficiency of galactokinase | 5 tests |
| Deficiency of glycerol kinase | 3 tests |
| Deficiency of guanidinoacetate methyltransferase | 7 tests |
| Deficiency of hyaluronoglucosaminidase | 2 tests |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 8 tests |
| Deficiency of iodide peroxidase | 2 tests |
| Deficiency of isobutyryl-CoA dehydrogenase | 1 test |
| Deficiency of malonyl-CoA decarboxylase | 8 tests |
| Deficiency of phosphoserine phosphatase | 1 test |
| Deficiency of steroid 11-beta-monooxygenase | 5 tests |
| Deficiency of steroid 17-alpha-monooxygenase | 7 tests |
| Deficiency of transaldolase | 2 tests |
| Dehydrated hereditary stomatocytosis 2 | 2 tests |
| Dejerine-Sottas disease | 6 tests |
| Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 3 tests |
| Dent disease type 1 | 7 tests |
| Dent disease type 2 | 8 tests |
| Dental anomalies and short stature | 5 tests |
| Dentatorubral-pallidoluysian atrophy | 1 test |
| Denticles | 2 tests |
| Dentin dysplasia, type 1 | 1 test |
| Dentinogenesis imperfecta - Shield's type II | 2 tests |
| Dentinogenesis imperfecta - Shield's type III | 2 tests |
| Dermatitis, atopic, 2 | 1 test |
| Dermatopathia pigmentosa reticularis | 2 tests |
| Desanto-shinawi syndrome | 3 tests |
| Desbuquois dysplasia 1 | 4 tests |
| Desmoid disease, hereditary | 2 tests |
| Desmosterolosis | 5 tests |
| Developmental and epileptic encephalopathy, 56 | 3 tests |
| Developmental and epileptic encephalopathy, 57 | 2 tests |
| Developmental and epileptic encephalopathy, 58 | 3 tests |
| Developmental and epileptic encephalopathy, 60 | 2 tests |
| Developmental and epileptic encephalopathy, 63 | 2 tests |
| Developmental and epileptic encephalopathy, 64 | 2 tests |
| Developmental and epileptic encephalopathy, 65 | 2 tests |
| Developmental and epileptic encephalopathy, 66 | 2 tests |
| Developmental and epileptic encephalopathy, 67 | 2 tests |
| Developmental and epileptic encephalopathy, 69 | 1 test |
| Developmental and epileptic encephalopathy, 70 | 2 tests |
| Developmental and epileptic encephalopathy, 71 | 2 tests |
| Developmental and epileptic encephalopathy, 72 | 1 test |
| Developmental and epileptic encephalopathy, 73 | 1 test |
| Developmental and epileptic encephalopathy, 74 | 2 tests |
| Developmental and epileptic encephalopathy, 75 | 1 test |
| Developmental and epileptic encephalopathy, 76 | 2 tests |
| Developmental and epileptic encephalopathy, 77 | 3 tests |
| Developmental and epileptic encephalopathy, 80 | 1 test |
| Developmental and epileptic encephalopathy, 81 | 1 test |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 4 tests |
| Developmental delay | 1 test |
| Developmental delay and seizures with or without movement abnormalities | 2 tests |
| Developmental delay with or without dysmorphic facies and autism | 1 test |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 test |
| Developmental delay, intellectual disability, obesity, and dysmorphic features | 1 test |
| Developmental malformations-deafness-dystonia syndrome | 3 tests |
| Di-George syndrome | 1 test |
| DiGeorge Syndrome | 4 tests |
| Diabetes mellitus type 1 | 2 tests |
| Diabetes mellitus, insulin-dependent, 10 | 2 tests |
| Diabetes mellitus, insulin-dependent, 12 | 2 tests |
| Diabetes mellitus, insulin-dependent, 2 | 1 test |
| Diabetes mellitus, insulin-dependent, 20 | 1 test |
| Diabetes mellitus, ketosis-prone | 1 test |
| Diabetes mellitus, neonatal, with congenital hypothyroidism | 3 tests |
| Diabetes mellitus, noninsulin-dependent, 5 | 2 tests |
| Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 2 tests |
| Diamond-Blackfan anemia | 1 test |
| Diamond-Blackfan anemia 1 | 4 tests |
| Diamond-Blackfan anemia 10 | 4 tests |
| Diamond-Blackfan anemia 11 | 2 tests |
| Diamond-Blackfan anemia 12 | 4 tests |
| Diamond-Blackfan anemia 13 | 2 tests |
| Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 1 test |
| Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 1 test |
| Diamond-Blackfan anemia 16 | 1 test |
| Diamond-Blackfan anemia 17 | 1 test |
| Diamond-Blackfan anemia 3 | 4 tests |
| Diamond-Blackfan anemia 4 | 4 tests |
| Diamond-Blackfan anemia 5 | 4 tests |
| Diamond-Blackfan anemia 6 | 4 tests |
| Diamond-Blackfan anemia 7 | 4 tests |
| Diamond-Blackfan anemia 8 | 4 tests |
| Diamond-Blackfan anemia 9 | 4 tests |
| Diaphanospondylodysostosis | 1 test |
| Diaphragmatic hernia 3 | 2 tests |
| Diaphyseal dysplasia | 4 tests |
| Diarrhea 10, protein-losing enteropathy type | 1 test |
| Diarrhea 4, malabsorptive, congenital | 2 tests |
| Diarrhea 5, with tufting enteropathy, congenital | 5 tests |
| Diarrhea 6 | 1 test |
| Diarrhea 7 | 1 test |
| Diarrhea 8, secretory sodium, congenital | 1 test |
| Diarrhea 9 | 1 test |
| Diastrophic dysplasia | 6 tests |
| Diencephalic-mesencephalic junction dysplasia syndrome 2 | 1 test |
| Diets-Jongmans syndrome | 1 test |
| Diffuse menangial sclerosis | 4 tests |
| Digital arthropathy-brachydactyly, familial | 1 test |
| Dihydropteridine reductase deficiency | 3 tests |
| Dihydropyrimidinase deficiency | 1 test |
| Dihydropyrimidine dehydrogenase deficiency | 3 tests |
| Dilated cardiomyopathy 1A | 10 tests |
| Dilated cardiomyopathy 1AA | 6 tests |
| Dilated cardiomyopathy 1BB | 1 test |
| Dilated cardiomyopathy 1C | 6 tests |
| Dilated cardiomyopathy 1CC | 6 tests |
| Dilated cardiomyopathy 1DD | 4 tests |
| Dilated cardiomyopathy 1E | 4 tests |
| Dilated cardiomyopathy 1EE | 4 tests |
| Dilated cardiomyopathy 1FF | 3 tests |
| Dilated cardiomyopathy 1GG | 1 test |
| Dilated cardiomyopathy 1HH | 3 tests |
| Dilated cardiomyopathy 1I | 6 tests |
| Dilated cardiomyopathy 1II | 3 tests |
| Dilated cardiomyopathy 1J | 4 tests |
| Dilated cardiomyopathy 1JJ | 4 tests |
| Dilated cardiomyopathy 1KK | 6 tests |
| Dilated cardiomyopathy 1L | 4 tests |
| Dilated cardiomyopathy 1M | 1 test |
| Dilated cardiomyopathy 1O | 1 test |
| Dilated cardiomyopathy 1P | 5 tests |
| Dilated cardiomyopathy 1R | 5 tests |
| Dilated cardiomyopathy 1S | 7 tests |
| Dilated cardiomyopathy 1W | 3 tests |
| Dilated cardiomyopathy 1X | 4 tests |
| Dilated cardiomyopathy 1Y | 5 tests |
| Dilated cardiomyopathy 1Z | 1 test |
| Dilated cardiomyopathy 2A | 6 tests |
| Dilated cardiomyopathy 3B | 5 tests |
| Dilated cardiomyopathy with woolly hair and keratoderma | 5 tests |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 8 tests |
| Dilution, pigmentary | 2 tests |
| Dimethylglycine dehydrogenase deficiency | 1 test |
| Disorder of fatty acid metabolism | 1 test |
| Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency | 9 tests |
| Disorders of Intracellular Cobalamin Metabolism | 1 test |
| Disseminated atypical mycobacterial infection | 1 test |
| Distal arthrogryposis type 1A | 4 tests |
| Distal arthrogryposis type 1B | 3 tests |
| Distal arthrogryposis type 2B | 7 tests |
| Distal arthrogryposis type 5D | 4 tests |
| Distal hereditary motor neuronopathy 2D | 2 tests |
| Distal hereditary motor neuronopathy type 2A | 3 tests |
| Distal hereditary motor neuronopathy type 2B | 3 tests |
| Distal hereditary motor neuronopathy type 2C | 2 tests |
| Distal hereditary motor neuronopathy type 5 | 7 tests |
| Distal hereditary motor neuronopathy type 5B | 3 tests |
| Distal hereditary motor neuronopathy type 7B | 6 tests |
| Distal myopathy with rimmed vacuoles | 1 test |
| Distal myopathy, Tateyama type | 1 test |
| Distal spinal muscular atrophy, X-linked 3 | 5 tests |
| Distal spinal muscular atrophy, congenital nonprogressive | 2 tests |
| Distichiasis-lymphedema syndrome | 3 tests |
| Dizygotic twins | 1 test |
| Dominant dystrophic epidermolysis bullosa with absence of skin | 3 tests |
| Donnai-Barrow syndrome | 4 tests |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 4 tests |
| Doughnut lesions of skull, familial | 1 test |
| Dowling-Degos disease 1 | 1 test |
| Doyne honeycomb retinal dystrophy | 4 tests |
| Drash syndrome | 6 tests |
| Duane retraction syndrome 2 | 2 tests |
| Duane retraction syndrome 3 with or without deafness | 2 tests |
| Duane-radial ray syndrome | 8 tests |
| Dubin-Johnson syndrome | 1 test |
| Duchenne muscular dystrophy | 3 tests |
| Dyggve-Melchior-Clausen syndrome | 1 test |
| Dyskeratosis congenita autosomal recessive 1 | 4 tests |
| Dyskeratosis congenita, X-linked | 8 tests |
| Dyskeratosis congenita, autosomal dominant 1 | 7 tests |
| Dyskeratosis congenita, autosomal dominant 6 | 2 tests |
| Dyskeratosis congenita, autosomal dominant, 2 | 8 tests |
| Dyskeratosis congenita, autosomal dominant, 3 | 5 tests |
| Dyskeratosis congenita, autosomal recessive 2 | 4 tests |
| Dyskeratosis congenita, autosomal recessive 6 | 5 tests |
| Dyskeratosis congenita, autosomal recessive, 3 | 4 tests |
| Dyskeratosis congenita, autosomal recessive, 5 | 6 tests |
| Dyskinesia, seizures, and intellectual developmental disorder | 4 tests |
| Dysmorphic features | 1 test |
| Dystonia 1 | 2 tests |
| Dystonia 12 | 6 tests |
| Dystonia 16 | 2 tests |
| Dystonia 24 | 2 tests |
| Dystonia 25 | 2 tests |
| Dystonia 27 | 1 test |
| Dystonia 5 | 6 tests |
| Dystonia 9 | 5 tests |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 3 tests |
| Dystrophic epidermolysis bullosa | 1 test |
| EAST syndrome | 6 tests |
| EDICT syndrome | 2 tests |
| EEM syndrome | 3 tests |
| ERCC1-Related Xeroderma Pigmentosum | 1 test |
| Early Infantile Epileptic Encephalopathy 6 | 1 test |
| Early infantile epileptic encephalopathy 10 | 5 tests |
| Early infantile epileptic encephalopathy 11 | 8 tests |
| Early infantile epileptic encephalopathy 12 | 4 tests |
| Early infantile epileptic encephalopathy 13 | 7 tests |
| Early infantile epileptic encephalopathy 14 | 4 tests |
| Early infantile epileptic encephalopathy 15 | 4 tests |
| Early infantile epileptic encephalopathy 16 | 5 tests |
| Early infantile epileptic encephalopathy 17 | 5 tests |
| Early infantile epileptic encephalopathy 18 | 4 tests |
| Early infantile epileptic encephalopathy 2 | 9 tests |
| Early infantile epileptic encephalopathy 21 | 2 tests |
| Early infantile epileptic encephalopathy 34 | 3 tests |
| Early infantile epileptic encephalopathy 4 | 9 tests |
| Early infantile epileptic encephalopathy 5 | 6 tests |
| Early infantile epileptic encephalopathy 55 | 4 tests |
| Early infantile epileptic encephalopathy 59 | 3 tests |
| Early infantile epileptic encephalopathy 61 | 1 test |
| Early infantile epileptic encephalopathy 62 | 5 tests |
| Early infantile epileptic encephalopathy 7 | 6 tests |
| Early infantile epileptic encephalopathy 8 | 6 tests |
| Early infantile epileptic encephalopathy 9 | 7 tests |
| Early myoclonic encephalopathy | 4 tests |
| Early-onset parkinsonism-intellectual disability syndrome | 6 tests |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 1 test |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 3 tests |
| Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant | 3 tests |
| Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive | 3 tests |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 1 test |
| Ectodermal dysplasia 4, hair/nail type | 2 tests |
| Ectodermal dysplasia and immunodeficiency 1 | 3 tests |
| Ectodermal dysplasia and immunodeficiency 2 | 3 tests |
| Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema | 2 tests |
| Ectodermal dysplasia-syndactyly syndrome 1 | 2 tests |
| Ectodermal dysplasia/short stature syndrome | 3 tests |
| Ectopia lentis 2, isolated, autosomal recessive | 1 test |
| Ectopia lentis et pupillae | 1 test |
| Ectopia lentis, isolated, autosomal dominant | 7 tests |
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 8 tests |
| Efavirenz response | 1 test |
| Ehlers-Danlos syndrome | 1 test |
| Ehlers-Danlos syndrome classic type 2 | 2 tests |
| Ehlers-Danlos syndrome dermatosparaxis type | 2 tests |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 3 tests |
| Ehlers-Danlos syndrome progeroid type | 3 tests |
| Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | 3 tests |
| Ehlers-Danlos syndrome, cardiac valvular type | 7 tests |
| Ehlers-Danlos syndrome, classic type | 9 tests |
| Ehlers-Danlos syndrome, classic type I | 1 test |
| Ehlers-Danlos syndrome, hydroxylysine-deficient | 5 tests |
| Ehlers-Danlos syndrome, musculocontractural type | 4 tests |
| Ehlers-Danlos syndrome, musculocontractural type 2 | 2 tests |
| Ehlers-Danlos syndrome, periodontal type, 2 | 2 tests |
| Ehlers-Danlos syndrome, procollagen proteinase deficient | 9 tests |
| Ehlers-Danlos syndrome, progeroid type, 2 | 2 tests |
| Ehlers-Danlos syndrome, type 3 | 2 tests |
| Ehlers-Danlos syndrome, type 4 | 8 tests |
| Ehlers-Danlos syndrome, type 8 | 2 tests |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 test |
| Ehlers-danlos syndrome, classic-like, 2 | 3 tests |
| Eichsfeld type congenital muscular dystrophy | 3 tests |
| Eiken skeletal dysplasia | 1 test |
| Elliptocytosis 1 | 2 tests |
| Elliptocytosis 2 | 3 tests |
| Elliptocytosis 3 | 1 test |
| Ellis-van Creveld syndrome | 11 tests |
| Elsahy-Waters syndrome | 2 tests |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 6 tests |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 6 tests |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 5 tests |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2 tests |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 test |
| Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | 2 tests |
| Encephalocraniocutaneous lipomatosis | 1 test |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 7 tests |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 1 test |
| Encephalopathy, familial, with neuroserpin inclusion bodies | 2 tests |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 2 tests |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 | 2 tests |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | 1 test |
| Encephalopathy, progressive, with or without lipodystrophy | 2 tests |
| Endocrine-cerebroosteodysplasia | 4 tests |
| Endometrial carcinoma | 6 tests |
| Endplate acetylcholinesterase deficiency | 3 tests |
| Enterokinase deficiency | 1 test |
| Epidermal nevus | 6 tests |
| Epidermal nevus syndrome | 4 tests |
| Epidermolysis bullosa junctionalis with pyloric atresia | 5 tests |
| Epidermolysis bullosa pruriginosa | 3 tests |
| Epidermolysis bullosa simplex Dowling-Meara type | 4 tests |
| Epidermolysis bullosa simplex due to plakophilin deficiency | 3 tests |
| Epidermolysis bullosa simplex with migratory circinate erythema | 3 tests |
| Epidermolysis bullosa simplex with mottled pigmentation | 3 tests |
| Epidermolysis bullosa simplex with muscular dystrophy | 4 tests |
| Epidermolysis bullosa simplex with nail dystrophy | 4 tests |
| Epidermolysis bullosa simplex with pyloric atresia | 4 tests |
| Epidermolysis bullosa simplex, Koebner type | 4 tests |
| Epidermolysis bullosa simplex, Ogna type | 4 tests |
| Epidermolysis bullosa simplex, autosomal recessive | 3 tests |
| Epidermolysis bullosa simplex, autosomal recessive 2 | 2 tests |
| Epidermolytic palmoplantar keratoderma | 4 tests |
| Epilepsy | 1 test |
| Epilepsy with grand mal seizures on awakening | 1 test |
| Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 4 tests |
| Epilepsy, childhood absence 2 | 2 tests |
| Epilepsy, childhood absence 5 | 5 tests |
| Epilepsy, childhood absence 6 | 1 test |
| Epilepsy, early-onset, vitamin b6-dependent | 2 tests |
| Epilepsy, familial adult myoclonic, 5 | 2 tests |
| Epilepsy, familial focal, with variable foci 1 | 2 tests |
| Epilepsy, familial focal, with variable foci 2 | 3 tests |
| Epilepsy, familial focal, with variable foci 3 | 3 tests |
| Epilepsy, familial focal, with variable foci 4 | 4 tests |
| Epilepsy, familial temporal lobe, 5 | 2 tests |
| Epilepsy, familial temporal lobe, 7 | 5 tests |
| Epilepsy, focal, with speech disorder and with or without mental retardation | 4 tests |
| Epilepsy, hearing loss, and mental retardation syndrome | 3 tests |
| Epilepsy, idiopathic generalized 10 | 2 tests |
| Epilepsy, idiopathic generalized 8 | 1 test |
| Epilepsy, idiopathic generalized 9 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 4 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 3 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 2 tests |
| Epilepsy, idiopathic generalized, susceptibility to, 16 | 3 tests |
| Epilepsy, juvenile absence, susceptibility to, 1 | 2 tests |
| Epilepsy, juvenile myoclonic 5 | 4 tests |
| Epilepsy, juvenile myoclonic, susceptibility to, 10 | 2 tests |
| Epilepsy, nocturnal frontal lobe, 5 | 3 tests |
| Epilepsy, nocturnal frontal lobe, type 1 | 3 tests |
| Epilepsy, nocturnal frontal lobe, type 3 | 3 tests |
| Epilepsy, nocturnal frontal lobe, type 4 | 3 tests |
| Epilepsy, progressive myoclonic 2A (Lafora) | 1 test |
| Epilepsy, progressive myoclonic 2B (Lafora) | 1 test |
| Epilepsy, progressive myoclonic 3 | 6 tests |
| Epilepsy, progressive myoclonic 4, with or without renal failure | 5 tests |
| Epilepsy, progressive myoclonic 6 | 3 tests |
| Epilepsy, progressive myoclonic 7 | 2 tests |
| Epilepsy, progressive myoclonic 8 | 2 tests |
| Epilepsy, progressive myoclonic, 9 | 2 tests |
| Epileptic encephalopathy, childhood-onset | 7 tests |
| Epileptic encephalopathy, early infantile, 1 | 8 tests |
| Epileptic encephalopathy, early infantile, 19 | 4 tests |
| Epileptic encephalopathy, early infantile, 23 | 3 tests |
| Epileptic encephalopathy, early infantile, 24 | 6 tests |
| Epileptic encephalopathy, early infantile, 25 | 4 tests |
| Epileptic encephalopathy, early infantile, 26 | 5 tests |
| Epileptic encephalopathy, early infantile, 27 | 8 tests |
| Epileptic encephalopathy, early infantile, 28 | 3 tests |
| Epileptic encephalopathy, early infantile, 31 | 3 tests |
| Epileptic encephalopathy, early infantile, 32 | 4 tests |
| Epileptic encephalopathy, early infantile, 33 | 3 tests |
| Epileptic encephalopathy, early infantile, 35 | 3 tests |
| Epileptic encephalopathy, early infantile, 36 | 6 tests |
| Epileptic encephalopathy, early infantile, 37 | 3 tests |
| Epileptic encephalopathy, early infantile, 38 | 2 tests |
| Epileptic encephalopathy, early infantile, 40 | 2 tests |
| Epileptic encephalopathy, early infantile, 41 | 2 tests |
| Epileptic encephalopathy, early infantile, 42 | 4 tests |
| Epileptic encephalopathy, early infantile, 43 | 5 tests |
| Epileptic encephalopathy, early infantile, 44 | 3 tests |
| Epileptic encephalopathy, early infantile, 45 | 3 tests |
| Epileptic encephalopathy, early infantile, 46 | 4 tests |
| Epileptic encephalopathy, early infantile, 47 | 3 tests |
| Epileptic encephalopathy, early infantile, 48 | 3 tests |
| Epileptic encephalopathy, early infantile, 49 | 3 tests |
| Epileptic encephalopathy, early infantile, 50 | 3 tests |
| Epileptic encephalopathy, early infantile, 51 | 4 tests |
| Epileptic encephalopathy, early infantile, 52 | 2 tests |
| Epileptic encephalopathy, early infantile, 53 | 4 tests |
| Epileptic encephalopathy, early infantile, 54 | 5 tests |
| Epileptic encephalopathy, infantile or early childhood 1 | 2 tests |
| Epileptic encephalopathy, infantile or early childhood 2 | 3 tests |
| Epileptic encephalopathy, infantile or early childhood 3 | 3 tests |
| Epiphyseal chondrodysplasia, miura type | 2 tests |
| Epiphyseal dysplasia, multiple, 2 | 5 tests |
| Epiphyseal dysplasia, multiple, 3 | 4 tests |
| Epiphyseal dysplasia, multiple, 7 | 4 tests |
| Epiphyseal dysplasia, multiple, with myopia and conductive deafness | 10 tests |
| Episodic ataxia type 1 | 4 tests |
| Episodic ataxia type 2 | 4 tests |
| Episodic ataxia type 9 | 1 test |
| Episodic ataxia, type 5 | 2 tests |
| Episodic kinesigenic dyskinesia 1 | 4 tests |
| Episodic pain syndrome, familial, 2 | 2 tests |
| Episodic pain syndrome, familial, 3 | 3 tests |
| Epithelial recurrent erosion dystrophy | 1 test |
| Erythrocyte lactate transporter defect | 1 test |
| Erythrocytosis, familial, 2 | 1 test |
| Erythroderma, ichthyosiform, congenital reticular | 1 test |
| Erythrokeratoderma, reticular | 1 test |
| Erythrokeratodermia variabilis | 1 test |
| Erythrokeratodermia variabilis et progressiva 1 | 1 test |
| Erythrokeratodermia variabilis et progressiva 3 | 1 test |
| Erythropoietic protoporphyria | 3 tests |
| Essential hypertension | 1 test |
| Ethylmalonic encephalopathy | 4 tests |
| Exercise intolerance, riboflavin-responsive | 1 test |
| Exercise-induced hyperinsulinism | 3 tests |
| Extraskeletal myxoid chondrosarcoma | 2 tests |
| Exudative vitreoretinopathy 1 | 4 tests |
| Exudative vitreoretinopathy 4 | 4 tests |
| Exudative vitreoretinopathy 5 | 3 tests |
| Exudative vitreoretinopathy 6 | 3 tests |
| Exudative vitreoretinopathy 7 | 3 tests |
| FG syndrome 1 | 14 tests |
| FG syndrome 2 | 15 tests |
| FG syndrome 4 | 7 tests |
| FRAXE | 1 test |
| Fabry disease | 9 tests |
| Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | 2 tests |
| Facioscapulohumeral muscular dystrophy 2 | 3 tests |
| Factor V deficiency | 3 tests |
| Factor VII deficiency | 3 tests |
| Factor X deficiency | 3 tests |
| Factor XII deficiency disease | 2 tests |
| Factor XIII subunit A deficiency | 3 tests |
| Factor XIII, b subunit, deficiency of | 3 tests |
| Factor v and factor viii, combined deficiency of, 2 | 3 tests |
| Failure of tooth eruption, primary | 1 test |
| Failure to thrive | 1 test |
| Familial Mediterranean fever | 4 tests |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 4 tests |
| Familial adenomatous polyposis 1 | 6 tests |
| Familial adenomatous polyposis 3 | 3 tests |
| Familial adenomatous polyposis 4 | 2 tests |
| Familial amyloid nephropathy with urticaria AND deafness | 3 tests |
| Familial atrial myxoma | 4 tests |
| Familial atypical mycobacteriosis, type 1, X-linked | 3 tests |
| Familial benign pemphigus | 1 test |
| Familial cancer of breast | 19 tests |
| Familial cold autoinflammatory syndrome | 2 tests |
| Familial cold autoinflammatory syndrome 1 | 1 test |
| Familial cold autoinflammatory syndrome 2 | 2 tests |
| Familial cold autoinflammatory syndrome 3 | 1 test |
| Familial cold autoinflammatory syndrome 4 | 1 test |
| Familial dysautonomia | 5 tests |
| Familial expansile osteolysis | 2 tests |
| Familial exudative vitreoretinopathy | 1 test |
| Familial exudative vitreoretinopathy, X-linked | 8 tests |
| Familial febrile seizures 8 | 2 tests |
| Familial focal epilepsy with variable foci | 2 tests |
| Familial hemiplegic migraine type 1 | 6 tests |
| Familial hemiplegic migraine type 2 | 5 tests |
| Familial hemiplegic migraine type 3 | 6 tests |
| Familial hemophagocytic lymphohistiocytosis 2 | 3 tests |
| Familial hemophagocytic lymphohistiocytosis 3 | 3 tests |
| Familial hemophagocytic lymphohistiocytosis 4 | 2 tests |
| Familial hyperaldosteronism type 3 | 1 test |
| Familial hypercholesterolemia | 3 tests |
| Familial hypercholesterolemia 2 | 3 tests |
| Familial hypercholesterolemia 3 | 2 tests |
| Familial hypercholesterolemia 4 | 3 tests |
| Familial hyperinsulinism | 1 test |
| Familial hyperkalemic periodic paralysis | 4 tests |
| Familial hypertriglyceridemia | 2 tests |
| Familial hypertrophic cardiomyopathy 1 | 7 tests |
| Familial hypertrophic cardiomyopathy 10 | 5 tests |
| Familial hypertrophic cardiomyopathy 11 | 3 tests |
| Familial hypertrophic cardiomyopathy 12 | 6 tests |
| Familial hypertrophic cardiomyopathy 13 | 6 tests |
| Familial hypertrophic cardiomyopathy 14 | 7 tests |
| Familial hypertrophic cardiomyopathy 15 | 4 tests |
| Familial hypertrophic cardiomyopathy 16 | 3 tests |
| Familial hypertrophic cardiomyopathy 17 | 4 tests |
| Familial hypertrophic cardiomyopathy 18 | 7 tests |
| Familial hypertrophic cardiomyopathy 19 | 2 tests |
| Familial hypertrophic cardiomyopathy 2 | 5 tests |
| Familial hypertrophic cardiomyopathy 20 | 5 tests |
| Familial hypertrophic cardiomyopathy 3 | 3 tests |
| Familial hypertrophic cardiomyopathy 4 | 5 tests |
| Familial hypertrophic cardiomyopathy 6 | 5 tests |
| Familial hypertrophic cardiomyopathy 7 | 7 tests |
| Familial hypertrophic cardiomyopathy 8 | 5 tests |
| Familial hypertrophic cardiomyopathy 9 | 3 tests |
| Familial hypoalphalipoproteinemia | 1 test |
| Familial hypocalciuric hypercalcemia | 2 tests |
| Familial hypokalemia-hypomagnesemia | 2 tests |
| Familial idiopathic hypercalciuria | 2 tests |
| Familial infantile myasthenia | 3 tests |
| Familial isolated deficiency of vitamin E | 1 test |
| Familial isolated hypoparathyroidism | 3 tests |
| Familial juvenile gout | 2 tests |
| Familial mediterranean fever, autosomal dominant | 4 tests |
| Familial medullary thyroid carcinoma | 3 tests |
| Familial multiple polyposis syndrome | 1 test |
| Familial partial lipodystrophy 2 | 4 tests |
| Familial partial lipodystrophy 3 | 4 tests |
| Familial partial lipodystrophy 4 | 2 tests |
| Familial partial lipodystrophy 5 | 2 tests |
| Familial partial lipodystrophy 6 | 3 tests |
| Familial platelet disorder with associated myeloid malignancy | 9 tests |
| Familial porphyria cutanea tarda | 3 tests |
| Familial progressive hyperpigmentation with or without hypopigmentation | 3 tests |
| Familial renal hypouricemia | 1 test |
| Familial restrictive cardiomyopathy 1 | 3 tests |
| Familial restrictive cardiomyopathy 3 | 2 tests |
| Familial temporal lobe epilepsy 1 | 3 tests |
| Familial thoracic aortic aneurysm and aortic dissection | 1 test |
| Familial type 3 hyperlipoproteinemia | 1 test |
| Familial type 5 hyperlipoproteinemia | 2 tests |
| Familial visceral amyloidosis, Ostertag type | 1 test |
| Fanconi anemia | 1 test |
| Fanconi anemia, complementation group A | 5 tests |
| Fanconi anemia, complementation group B | 5 tests |
| Fanconi anemia, complementation group C | 7 tests |
| Fanconi anemia, complementation group D1 | 6 tests |
| Fanconi anemia, complementation group D2 | 5 tests |
| Fanconi anemia, complementation group E | 5 tests |
| Fanconi anemia, complementation group F | 5 tests |
| Fanconi anemia, complementation group G | 5 tests |
| Fanconi anemia, complementation group I | 5 tests |
| Fanconi anemia, complementation group J | 8 tests |
| Fanconi anemia, complementation group L | 5 tests |
| Fanconi anemia, complementation group M | 2 tests |
| Fanconi anemia, complementation group N | 9 tests |
| Fanconi anemia, complementation group O | 6 tests |
| Fanconi anemia, complementation group P | 5 tests |
| Fanconi anemia, complementation group Q | 5 tests |
| Fanconi anemia, complementation group R | 3 tests |
| Fanconi anemia, complementation group S | 2 tests |
| Fanconi anemia, complementation group T | 3 tests |
| Fanconi anemia, complementation group U | 5 tests |
| Fanconi anemia, complementation group V | 3 tests |
| Fanconi anemia, complementation group W | 4 tests |
| Fanconi renotubular syndrome 1 | 2 tests |
| Fanconi renotubular syndrome 2 | 3 tests |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 2 tests |
| Fanconi renotubular syndrome 5 | 1 test |
| Fanconi-Bickel syndrome | 10 tests |
| Farber disease | 4 tests |
| Fasting plasma glucose level quantitative trait locus 5 | 1 test |
| Fatal infantile hypertonic myofibrillar myopathy | 1 test |
| Febrile seizures, familial, 11 | 2 tests |
| Febrile seizures, familial, 4 | 1 test |
| Feeding difficulties | 1 test |
| Feingold syndrome | 1 test |
| Feingold syndrome 1 | 5 tests |
| Feingold syndrome 2 | 4 tests |
| Fetal akinesia deformation sequence 2 | 1 test |
| Fetal akinesia deformation sequence 3 | 1 test |
| Fetal akinesia deformation sequence 4 | 1 test |
| Fetal hemoglobin quantitative trait locus 6 | 3 tests |
| Fibrochondrogenesis | 2 tests |
| Fibrochondrogenesis 1 | 3 tests |
| Fibrochondrogenesis 2 | 5 tests |
| Fibromatosis, gingival, 5 | 2 tests |
| Fibrosis of extraocular muscles, congenital, 1 | 1 test |
| Fibrosis of extraocular muscles, congenital, 2 | 2 tests |
| Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | 2 tests |
| Fibrous dysplasia of jaw | 1 test |
| Fibular hypoplasia and complex brachydactyly | 4 tests |
| Filippi syndrome | 2 tests |
| Finnish congenital nephrotic syndrome | 2 tests |
| Fish-eye disease | 2 tests |
| Fleck corneal dystrophy | 2 tests |
| Fleck retina, familial benign | 5 tests |
| Floating-Harbor syndrome | 6 tests |
| Focal cortical dysplasia type II | 4 tests |
| Focal dermal hypoplasia | 6 tests |
| Focal facial dermal dysplasia 3, Setleis type | 1 test |
| Focal segmental glomerulosclerosis | 1 test |
| Focal segmental glomerulosclerosis 1 | 2 tests |
| Focal segmental glomerulosclerosis 2 | 2 tests |
| Focal segmental glomerulosclerosis 3, susceptibility to | 2 tests |
| Focal segmental glomerulosclerosis 4, susceptibility to | 1 test |
| Focal segmental glomerulosclerosis 5 | 1 test |
| Focal segmental glomerulosclerosis 6 | 1 test |
| Focal segmental glomerulosclerosis 7 | 3 tests |
| Focal segmental glomerulosclerosis 8 | 2 tests |
| Focal segmental glomerulosclerosis 9 | 1 test |
| Fontaine progeroid syndrome | 2 tests |
| Foveal hypoplasia 2 | 3 tests |
| Foveal hypoplasia and presenile cataract syndrome | 8 tests |
| Fragile X syndrome | 4 tests |
| Fragile X tremor/ataxia syndrome | 3 tests |
| Frank-Ter Haar syndrome | 4 tests |
| Fraser syndrome 1 | 6 tests |
| Fraser syndrome 2 | 10 tests |
| Fraser syndrome 3 | 8 tests |
| Frasier syndrome | 6 tests |
| Freeman-Sheldon syndrome | 5 tests |
| Frontometaphyseal dysplasia | 1 test |
| Frontometaphyseal dysplasia 1 | 9 tests |
| Frontonasal dysplasia 1 | 3 tests |
| Frontonasal dysplasia 2 | 2 tests |
| Frontonasal dysplasia 3 | 1 test |
| Frontotemporal dementia | 6 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 5 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 6 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 4 tests |
| Frontotemporal dementia, chromosome 3-linked | 4 tests |
| Fructose-biphosphatase deficiency | 4 tests |
| Fucosidosis | 4 tests |
| Fuhrmann syndrome | 2 tests |
| Fukuyama congenital muscular dystrophy | 9 tests |
| Fumarase deficiency | 7 tests |
| GAPO syndrome | 1 test |
| GATA-1-related thrombocytopenia with dyserythropoiesis | 3 tests |
| GLUT1 deficiency syndrome 1 | 6 tests |
| GLUT1 deficiency syndrome 2 | 5 tests |
| GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | 1 test |
| GM1 gangliosidosis type 2 | 4 tests |
| GM1 gangliosidosis type 3 | 3 tests |
| GNE myopathy | 5 tests |
| GRACILE syndrome | 5 tests |
| GTP cyclohydrolase I deficiency | 1 test |
| Galactosylceramide beta-galactosidase deficiency | 7 tests |
| Galloway-Mowat syndrome 1 | 4 tests |
| Galloway-Mowat syndrome 2, X-linked | 4 tests |
| Galloway-Mowat syndrome 3 | 5 tests |
| Galloway-Mowat syndrome 4 | 3 tests |
| Galloway-Mowat syndrome 5 | 3 tests |
| Galloway-Mowat syndrome 6 | 2 tests |
| Galloway-Mowat syndrome 7 | 2 tests |
| Galloway-Mowat syndrome 8 | 2 tests |
| Gamma-aminobutyric acid transaminase deficiency | 2 tests |
| Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to | 1 test |
| Gastric lymphoma | 1 test |
| Gastrointestinal stromal tumor | 4 tests |
| Gaucher disease type 3C | 3 tests |
| Gaucher disease, atypical, due to saposin C deficiency | 1 test |
| Gaucher disease, perinatal lethal | 3 tests |
| Gaucher's disease, type 1 | 3 tests |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 2 tests |
| Geleophysic dysplasia 1 | 3 tests |
| Geleophysic dysplasia 2 | 8 tests |
| Geleophysic dysplasia 3 | 2 tests |
| Generalized arterial calcification of infancy | 3 tests |
| Generalized arterial calcification of infancy 2 | 4 tests |
| Generalized dominant dystrophic epidermolysis bullosa | 3 tests |
| Generalized epilepsy with febrile seizures plus, type 1 | 4 tests |
| Generalized epilepsy with febrile seizures plus, type 10 | 3 tests |
| Generalized epilepsy with febrile seizures plus, type 2 | 7 tests |
| Generalized epilepsy with febrile seizures plus, type 7 | 4 tests |
| Generalized epilepsy with febrile seizures plus, type 9 | 4 tests |
| Generalized juvenile polyposis/juvenile polyposis coli | 6 tests |
| Generalized neonatal hypotonia | 1 test |
| Genitopatellar syndrome | 4 tests |
| Genitourinary and/or brain malformation syndrome | 1 test |
| Geroderma osteodysplastica | 3 tests |
| Giant axonal neuropathy 1 | 4 tests |
| Gilbert's syndrome | 1 test |
| Gillespie syndrome | 1 test |
| Gillessen-Kaesbach-Nishimura syndrome | 2 tests |
| Gingival fibromatosis 1 | 2 tests |
| Glanzmann thrombasthenia | 7 tests |
| Glaucoma | 1 test |
| Glaucoma 1, open angle, A | 3 tests |
| Glaucoma 1, open angle, G | 2 tests |
| Glaucoma 1, open angle, O | 1 test |
| Glaucoma 3, primary congenital, A | 4 tests |
| Glaucoma 3, primary congenital, E | 1 test |
| Glaucoma 3, primary congenital, d | 5 tests |
| Glaucoma, normal tension, susceptibility to | 5 tests |
| Glioma susceptibility 1 | 4 tests |
| Glioma susceptibility 2 | 4 tests |
| Glioma susceptibility 3 | 3 tests |
| Glioma susceptibility 9 | 4 tests |
| Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | 1 test |
| Global developmental delay, progressive ataxia, and elevated glutamine | 2 tests |
| Globozoospermia | 4 tests |
| Glomerulopathy with fibronectin deposits 2 | 1 test |
| Glucocorticoid deficiency 2 | 1 test |
| Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | 2 tests |
| Glucocorticoid deficiency 5 | 1 test |
| Glucocorticoid deficiency with achalasia | 1 test |
| Glucocorticoid resistance, generalized | 3 tests |
| Glucose-6-phosphate transport defect | 7 tests |
| Glutaric aciduria, type 1 | 5 tests |
| Glutathione peroxidase deficiency | 1 test |
| Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to | 3 tests |
| Gluthathione synthetase deficiency | 3 tests |
| Glycine N-methyltransferase deficiency | 3 tests |
| Glycine encephalopathy with normal serum glycine | 2 tests |
| Glycogen storage disease 0, muscle | 2 tests |
| Glycogen storage disease IXb | 4 tests |
| Glycogen storage disease IXc | 4 tests |
| Glycogen storage disease IXd | 3 tests |
| Glycogen storage disease XI | 2 tests |
| Glycogen storage disease XV | 3 tests |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 4 tests |
| Glycogen storage disease due to hepatic glycogen synthase deficiency | 4 tests |
| Glycogen storage disease due to muscle beta-enolase deficiency | 2 tests |
| Glycogen storage disease of heart, lethal congenital | 5 tests |
| Glycogen storage disease type III | 6 tests |
| Glycogen storage disease type IXa1 | 4 tests |
| Glycogen storage disease type X | 3 tests |
| Glycogen storage disease, type II | 11 tests |
| Glycogen storage disease, type IV | 7 tests |
| Glycogen storage disease, type V | 4 tests |
| Glycogen storage disease, type VI | 4 tests |
| Glycogen storage disease, type VII | 5 tests |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 3 tests |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 1 test |
| Glycosylphosphatidylinositol biosynthesis defect 17 | 1 test |
| Glycosylphosphatidylinositol biosynthesis defect 18 | 1 test |
| Glycosylphosphatidylinositol biosynthesis defect 21 | 1 test |
| Gnathodiaphyseal dysplasia | 1 test |
| Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | 5 tests |
| Goldberg-Shprintzen megacolon syndrome | 3 tests |
| Goldblatt hypertension | 1 test |
| Gonadotropin-independent familial sexual precocity | 5 tests |
| Gordon Holmes syndrome | 2 tests |
| Gordon's syndrome | 2 tests |
| Gorlin syndrome | 7 tests |
| Graft-versus-host disease, susceptibility to | 1 test |
| Grange syndrome | 2 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 3 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III | 3 tests |
| Gray platelet syndrome | 3 tests |
| Grebe syndrome | 4 tests |
| Greenberg dysplasia | 3 tests |
| Greig cephalopolysyndactyly syndrome | 9 tests |
| Griscelli syndrome type 1 | 4 tests |
| Griscelli syndrome type 2 | 6 tests |
| Griscelli syndrome type 3 | 2 tests |
| Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | 6 tests |
| Groenouw corneal dystrophy type I | 2 tests |
| Growth delay due to insulin-like growth factor I resistance | 2 tests |
| Growth restriction, severe, with distinctive facies | 1 test |
| Growth retardation, developmental delay, coarse facies, and early death | 1 test |
| Guttmacher syndrome | 8 tests |
| H3-3B syndrome | 1 test |
| HNSHA due to aldolase A deficiency | 3 tests |
| HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS | 1 test |
| HSD10 disease | 5 tests |
| Haim-Munk syndrome | 1 test |
| Hajdu-Cheney syndrome | 5 tests |
| Hamartoma of hypothalamus | 5 tests |
| Hand-foot-genital syndrome | 5 tests |
| Hartsfield syndrome | 7 tests |
| Hashimoto thyroiditis | 2 tests |
| Hawkinsinuria | 2 tests |
| Hay-Wells syndrome of ectodermal dysplasia | 7 tests |
| Hb SS disease | 1 test |
| Heart, malformation of | 1 test |
| Heart-hand syndrome, Slovenian type | 3 tests |
| Hecht syndrome | 3 tests |
| Heimler syndrome 2 | 6 tests |
| Heinz body anemia | 1 test |
| Helicobacter pylori infection, susceptibility to | 1 test |
| Helsmoortel-Van der Aa Syndrome | 5 tests |
| Hemangioma, capillary infantile | 1 test |
| Hematologic neoplasm | 1 test |
| Hemochromatosis type 1 | 6 tests |
| Hemochromatosis type 2A | 2 tests |
| Hemochromatosis type 2B | 2 tests |
| Hemochromatosis type 3 | 2 tests |
| Hemochromatosis type 4 | 2 tests |
| Hemochromatosis type 5 | 1 test |
| Hemoglobin H disease | 3 tests |
| Hemolytic anemia due to glutathione reductase deficiency | 1 test |
| Hemolytic anemia due to hexokinase deficiency | 1 test |
| Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | 2 tests |
| Hemophagocytic lymphohistiocytosis, familial, 5 | 3 tests |
| Hemorrhage, intracerebral, susceptibility to | 1 test |
| Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | 4 tests |
| Hennekam lymphangiectasia-lymphedema syndrome | 2 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 4 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 3 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 3 | 1 test |
| Hepatic adenomas, familial | 1 test |
| Hepatic methionine adenosyltransferase deficiency | 3 tests |
| Hepatitis b virus, susceptibility to | 2 tests |
| Hepatocellular carcinoma | 3 tests |
| Hepatomegaly | 1 test |
| Hereditary acrodermatitis enteropathica | 1 test |
| Hereditary angioedema type 1 | 2 tests |
| Hereditary breast and ovarian cancer syndrome | 2 tests |
| Hereditary cancer-predisposing syndrome | 1 test |
| Hereditary congenital facial paresis 3 | 1 test |
| Hereditary coproporphyria | 4 tests |
| Hereditary cryohydrocytosis with normal stomatin | 1 test |
| Hereditary diffuse gastric cancer | 7 tests |
| Hereditary diffuse leukoencephalopathy with spheroids | 6 tests |
| Hereditary disease | 4 tests |
| Hereditary factor I deficiency disease | 2 tests |
| Hereditary factor IX deficiency disease | 3 tests |
| Hereditary factor VIII deficiency disease | 3 tests |
| Hereditary factor XI deficiency disease | 3 tests |
| Hereditary fructosuria | 4 tests |
| Hereditary hearing loss and deafness | 3 tests |
| Hereditary hemochromatosis | 1 test |
| Hereditary hemorrhagic telangiectasia | 2 tests |
| Hereditary hemorrhagic telangiectasia type 1 | 1 test |
| Hereditary hyperferritinemia with congenital cataracts | 3 tests |
| Hereditary insensitivity to pain with anhidrosis | 3 tests |
| Hereditary leiomyomatosis and renal cell cancer | 6 tests |
| Hereditary liability to pressure palsies | 1 test |
| Hereditary lymphedema type I | 3 tests |
| Hereditary mixed polyposis syndrome 2 | 3 tests |
| Hereditary motor and sensory neuropathy with optic atrophy | 7 tests |
| Hereditary motor and sensory neuropathy, Okinawa type | 2 tests |
| Hereditary nephrotic syndrome | 2 tests |
| Hereditary neutrophilia | 2 tests |
| Hereditary nonpolyposis colorectal cancer type 4 | 11 tests |
| Hereditary nonpolyposis colorectal cancer type 5 | 13 tests |
| Hereditary nonpolyposis colorectal cancer type 7 | 3 tests |
| Hereditary nonpolyposis colorectal cancer type 8 | 13 tests |
| Hereditary pancreatitis | 8 tests |
| Hereditary pyropoikilocytosis | 2 tests |
| Hereditary sensory and autonomic neuropathy type 1 | 3 tests |
| Hereditary sensory and autonomic neuropathy type IC | 2 tests |
| Hereditary sensory and autonomic neuropathy type IIA | 2 tests |
| Hereditary sensory and autonomic neuropathy type IIB | 2 tests |
| Hereditary sensory and autonomic neuropathy type IIC | 4 tests |
| Hereditary sensory neuropathy type 1D | 2 tests |
| Hereditary sensory neuropathy type IE | 3 tests |
| Hereditary sensory neuropathy type IF | 2 tests |
| Hereditary sideroblastic anemia | 1 test |
| Hereditary spastic paraplegia 10 | 10 tests |
| Hereditary spastic paraplegia 12 | 3 tests |
| Hereditary spastic paraplegia 13 | 4 tests |
| Hereditary spastic paraplegia 15 | 5 tests |
| Hereditary spastic paraplegia 18 | 3 tests |
| Hereditary spastic paraplegia 2 | 6 tests |
| Hereditary spastic paraplegia 23 | 2 tests |
| Hereditary spastic paraplegia 26 | 3 tests |
| Hereditary spastic paraplegia 39 | 3 tests |
| Hereditary spastic paraplegia 3A | 4 tests |
| Hereditary spastic paraplegia 5A | 6 tests |
| Hereditary spastic paraplegia 6 | 4 tests |
| Hereditary spastic paraplegia 7 | 9 tests |
| Hereditary spastic paraplegia 8 | 5 tests |
| Hereditary spastic paraplegia 9A | 5 tests |
| Hereditary xanthinuria type 1 | 2 tests |
| Hermansky-Pudlak syndrome 1 | 8 tests |
| Hermansky-Pudlak syndrome 10 | 4 tests |
| Hermansky-Pudlak syndrome 2 | 9 tests |
| Hermansky-Pudlak syndrome 3 | 8 tests |
| Hermansky-Pudlak syndrome 4 | 8 tests |
| Hermansky-Pudlak syndrome 5 | 7 tests |
| Hermansky-Pudlak syndrome 6 | 8 tests |
| Hermansky-Pudlak syndrome 7 | 7 tests |
| Hermansky-Pudlak syndrome 8 | 7 tests |
| Hermansky-Pudlak syndrome 9 | 6 tests |
| Heterotaxia | 1 test |
| Heterotaxy, visceral, 1, X-linked | 6 tests |
| Heterotaxy, visceral, 2, autosomal | 2 tests |
| Heterotaxy, visceral, 4, autosomal | 3 tests |
| Heterotaxy, visceral, 6, autosomal | 2 tests |
| Heterotaxy, visceral, 7, autosomal | 2 tests |
| Heterotaxy, visceral, 8, autosomal | 2 tests |
| Heterotopia, periventricular, autosomal recessive | 4 tests |
| Heyn-Sproul-Jackson syndrome | 2 tests |
| Hidrotic ectodermal dysplasia syndrome | 3 tests |
| Hirschsprung disease | 2 tests |
| Hirschsprung disease 1 | 4 tests |
| Hirschsprung disease 2 | 5 tests |
| Hirschsprung disease 3 | 2 tests |
| Hirschsprung disease 4 | 6 tests |
| Hirschsprung disease, cardiac defects, and autonomic dysfunction | 2 tests |
| Histiocytic medullary reticulosis | 7 tests |
| Histiocytosis-lymphadenopathy plus syndrome | 2 tests |
| Holocarboxylase synthetase deficiency | 4 tests |
| Holoprosencephaly 11 | 4 tests |
| Holoprosencephaly 2 | 4 tests |
| Holoprosencephaly 3 | 8 tests |
| Holoprosencephaly 4 | 4 tests |
| Holoprosencephaly 5 | 3 tests |
| Holoprosencephaly 7 | 8 tests |
| Holoprosencephaly 9 | 8 tests |
| Holoprosencephaly sequence | 3 tests |
| Holt-Oram syndrome | 6 tests |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 7 tests |
| Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type | 4 tests |
| Hoyeraal-Hreidarsson syndrome | 2 tests |
| Human HOXA1 syndromes | 3 tests |
| Human immunodeficiency virus type 1, susceptibility to | 1 test |
| Humerofemoral hypoplasia with radiotibial ray deficiency | 1 test |
| Huntington disease | 1 test |
| Hurler syndrome | 3 tests |
| Hurthle cell carcinoma of thyroid | 1 test |
| Hutchinson-Gilford syndrome | 4 tests |
| Hyaline fibromatosis syndrome | 2 tests |
| Hydranencephaly with renal aplasia-dysplasia | 3 tests |
| Hydrocephalus, congenital communicating, 1 | 1 test |
| Hydrocephalus, congenital, 2, with or without brain or eye anomalies | 3 tests |
| Hydrocephalus, congenital, 3, with brain anomalies | 1 test |
| Hydrolethalus syndrome 2 | 7 tests |
| Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | 2 tests |
| Hydrops, lactic acidosis, and sideroblastic anemia | 2 tests |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 7 tests |
| Hyper-IgM syndrome type 1 | 4 tests |
| Hyper-IgM syndrome type 2 | 4 tests |
| Hyper-IgM syndrome type 3 | 2 tests |
| Hyper-IgM syndrome type 5 | 2 tests |
| Hyperaldosteronism, familial, type II | 2 tests |
| Hyperaldosteronism, familial, type IV | 4 tests |
| Hyperalphalipoproteinemia 1 | 1 test |
| Hyperammonemia | 2 tests |
| Hyperammonemia, type III | 3 tests |
| Hypercalcemia, infantile, 1 | 1 test |
| Hypercalcemia, infantile, 2 | 1 test |
| Hypercarotenemia and vitamin a deficiency, autosomal dominant | 3 tests |
| Hypercholanemia, familial | 2 tests |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | 1 test |
| Hyperekplexia 1 | 2 tests |
| Hyperimmunoglobulin D with periodic fever | 6 tests |
| Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive | 3 tests |
| Hyperinsulinemic hypoglycemia familial 5 | 2 tests |
| Hyperinsulinemic hypoglycemia, familial, 1 | 6 tests |
| Hyperinsulinemic hypoglycemia, familial, 4 | 6 tests |
| Hyperinsulinism due to glucokinase deficiency | 4 tests |
| Hyperinsulinism-hyperammonemia syndrome | 6 tests |
| Hyperlipidemia, familial combined, LPL related | 2 tests |
| Hyperlipoproteinemia, type I | 3 tests |
| Hyperlipoproteinemia, type ID | 2 tests |
| Hypermanganesemia with dystonia 1 | 1 test |
| Hypermanganesemia with dystonia 2 | 1 test |
| Hypermethioninemia due to adenosine kinase deficiency | 3 tests |
| Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency | 4 tests |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 3 tests |
| Hyperparathyroidism 1 | 3 tests |
| Hyperparathyroidism 2 | 3 tests |
| Hyperphenylalaninemia, BH4-deficient, D | 4 tests |
| Hyperphenylalaninemia, mild, non-bh4-deficient | 3 tests |
| Hyperphosphatasemia tarda | 1 test |
| Hyperphosphatasemia with bone disease | 2 tests |
| Hyperphosphatasia with mental retardation syndrome 1 | 4 tests |
| Hyperphosphatasia with mental retardation syndrome 2 | 5 tests |
| Hyperphosphatasia with mental retardation syndrome 3 | 1 test |
| Hyperphosphatasia with mental retardation syndrome 4 | 1 test |
| Hyperphosphatasia with mental retardation syndrome 5 | 2 tests |
| Hyperphosphatasia with mental retardation syndrome 6 | 2 tests |
| Hyperphosphatemic familial tumoral calcinosis 1 | 2 tests |
| Hyperphosphatemic familial tumoral calcinosis 3 | 1 test |
| Hyperproinsulinemia | 1 test |
| Hyperprolactinemia | 2 tests |
| Hypertelorism, Teebi type | 2 tests |
| Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy | 1 test |
| Hyperthyroidism, familial gestational | 2 tests |
| Hyperthyroidism, nonautoimmune | 2 tests |
| Hypertrichotic osteochondrodysplasia Cantu type | 3 tests |
| Hypertriglyceridemia, transient infantile | 1 test |
| Hypertrophic cardiomyopathy 25 | 5 tests |
| Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 3 tests |
| Hyperuricemic nephropathy, familial juvenile, 4 | 1 test |
| Hypobetalipoproteinemia, familial, 1 | 2 tests |
| Hypobetalipoproteinemia, familial, 2 | 1 test |
| Hypobetalipoproteinemia, normotriglyceridemic | 1 test |
| Hypocalcemia, autosomal dominant 1 | 6 tests |
| Hypocalcemia, autosomal dominant 2 | 2 tests |
| Hypocalciuric hypercalcemia, familial, type 1 | 2 tests |
| Hypocalciuric hypercalcemia, familial, type II | 2 tests |
| Hypocalciuric hypercalcemia, familial, type III | 3 tests |
| Hypochondroplasia | 10 tests |
| Hypoglycemia, neonatal, simulating foetopathia diabetica | 5 tests |
| Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 5 tests |
| Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | 10 tests |
| Hypogonadotropic hypogonadism 10 with or without anosmia | 6 tests |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 12 with or without anosmia | 6 tests |
| Hypogonadotropic hypogonadism 13 with or without anosmia | 6 tests |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 8 tests |
| Hypogonadotropic hypogonadism 15 with or without anosmia | 6 tests |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 17 with or without anosmia | 5 tests |
| Hypogonadotropic hypogonadism 18 with or without anosmia | 8 tests |
| Hypogonadotropic hypogonadism 19 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 13 tests |
| Hypogonadotropic hypogonadism 20 with or without anosmia | 5 tests |
| Hypogonadotropic hypogonadism 21 with or without anosmia | 4 tests |
| Hypogonadotropic hypogonadism 22 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 24 without anosmia | 6 tests |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 16 tests |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 13 tests |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 9 tests |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 7 tests |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 7 tests |
| Hypohidrotic X-linked ectodermal dysplasia | 3 tests |
| Hypokalemic periodic paralysis 1 | 2 tests |
| Hypokalemic periodic paralysis, type 2 | 3 tests |
| Hypomagnesemia 1, intestinal | 1 test |
| Hypomagnesemia 4, renal | 1 test |
| Hypomagnesemia 5, renal, with ocular involvement | 4 tests |
| Hypomagnesemia 6, renal | 1 test |
| Hypomagnesemia, seizures, and mental retardation 2 | 1 test |
| Hypomyelinating leukodystrophy 3 | 2 tests |
| Hypomyelinating leukodystrophy 7 | 2 tests |
| Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 2 tests |
| Hypomyelination and Congenital Cataract | 3 tests |
| Hypomyelination with brainstem and spinal cord involvement and leg spasticity | 3 tests |
| Hypomyelination, global cerebral | 4 tests |
| Hypoparathyroidism - X-linked | 1 test |
| Hypoparathyroidism-deafness-renal disease syndrome | 4 tests |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 3 tests |
| Hypophosphatemic rickets, X-linked recessive | 4 tests |
| Hypophosphatemic rickets, autosomal recessive, 2 | 2 tests |
| Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 4 tests |
| Hypoplastic left heart syndrome 1 | 2 tests |
| Hypoplastic left heart syndrome 2 | 3 tests |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 test |
| Hyposegmentation of neutrophil nuclei | 1 test |
| Hypospadias 1, X-linked | 2 tests |
| Hypospadias 2, X-linked | 5 tests |
| Hypospadias 3, autosomal | 3 tests |
| Hypothalamic hypothyroidism | 2 tests |
| Hypothyroidism, central, and testicular enlargement | 2 tests |
| Hypothyroidism, congenital, nongoitrous, 1 | 2 tests |
| Hypothyroidism, congenital, nongoitrous, 2 | 2 tests |
| Hypothyroidism, congenital, nongoitrous, 5 | 2 tests |
| Hypothyroidism, congenital, nongoitrous, 6 | 2 tests |
| Hypotonia, ataxia, and delayed development syndrome | 2 tests |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 4 tests |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 5 tests |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 3 tests |
| Hypotonia-cystinuria syndrome | 1 test |
| Hypotrichosis-lymphedema-telangiectasia syndrome | 3 tests |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 test |
| Hystrix-like ichthyosis with deafness | 2 tests |
| I blood group system | 1 test |
| IFAP syndrome with or without BRESHECK syndrome | 6 tests |
| IVIC syndrome | 5 tests |
| Ichthyosis bullosa of Siemens | 3 tests |
| Ichthyosis hystrix of Curth-Macklin | 3 tests |
| Ichthyosis prematurity syndrome | 2 tests |
| Ichthyosis vulgaris | 1 test |
| Ichthyosis, congenital, autosomal recessive 11 | 2 tests |
| Ichthyosis, cyclic, with epidermolytic hyperkeratosis | 4 tests |
| Idiopathic Pulmonary Fibrosis | 3 tests |
| Idiopathic basal ganglia calcification 1 | 2 tests |
| Idiopathic basal ganglia calcification 5 | 2 tests |
| Idiopathic hypereosinophilic syndrome | 1 test |
| Idiopathic livedo reticularis with systemic involvement | 1 test |
| Idiopathic nephrotic syndrome | 2 tests |
| Imagawa-Matsumoto syndrome | 1 test |
| Imerslund-Gräsbeck syndrome | 2 tests |
| Immunodeficiency 11 | 1 test |
| Immunodeficiency 11b with atopic dermatitis | 1 test |
| Immunodeficiency 12 | 1 test |
| Immunodeficiency 13 | 3 tests |
| Immunodeficiency 14 | 6 tests |
| Immunodeficiency 17 | 1 test |
| Immunodeficiency 18 | 1 test |
| Immunodeficiency 19 | 1 test |
| Immunodeficiency 23 | 1 test |
| Immunodeficiency 26 with or without neurologic abnormalities | 1 test |
| Immunodeficiency 27b | 1 test |
| Immunodeficiency 28 | 1 test |
| Immunodeficiency 29 | 1 test |
| Immunodeficiency 30 | 2 tests |
| Immunodeficiency 31C | 3 tests |
| Immunodeficiency 31a | 3 tests |
| Immunodeficiency 32a | 1 test |
| Immunodeficiency 32b | 1 test |
| Immunodeficiency 36 | 4 tests |
| Immunodeficiency 37 | 1 test |
| Immunodeficiency 38 with basal ganglia calcification | 1 test |
| Immunodeficiency 42 | 1 test |
| Immunodeficiency 47 | 5 tests |
| Immunodeficiency 52 | 1 test |
| Immunodeficiency 8 | 1 test |
| Immunodeficiency due to defect in cd3-zeta | 1 test |
| Immunodeficiency due to defect in mapbp-interacting protein | 1 test |
| Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | 2 tests |
| Immunodeficiency without anhidrotic ectodermal dysplasia | 2 tests |
| Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia | 3 tests |
| Immunodeficiency, common variable, 12 | 2 tests |
| Immunodeficiency, common variable, 13 | 3 tests |
| Immunodeficiency, common variable, 14 | 2 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 test |
| Immunoglobulin A deficiency 2 | 2 tests |
| Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia | 4 tests |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | 3 tests |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 3 tests |
| Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | 3 tests |
| Incontinentia pigmenti syndrome | 4 tests |
| Indifference to pain, congenital, autosomal recessive | 5 tests |
| Infantile GM1 gangliosidosis | 6 tests |
| Infantile Refsum's disease | 5 tests |
| Infantile cerebellar-retinal degeneration | 4 tests |
| Infantile convulsions and choreoathetosis | 5 tests |
| Infantile cortical hyperostosis | 7 tests |
| Infantile dystonia-parkinsonism | 2 tests |
| Infantile hypophosphatasia | 6 tests |
| Infantile liver failure syndrome 1 | 2 tests |
| Infantile liver failure syndrome 2 | 5 tests |
| Infantile myofibromatosis | 2 tests |
| Infantile myofibromatosis 2 | 1 test |
| Infantile nephronophthisis | 6 tests |
| Infantile neuroaxonal dystrophy | 3 tests |
| Infantile nystagmus, X-linked | 2 tests |
| Infantile onset spinocerebellar ataxia | 7 tests |
| Infantile-onset ascending hereditary spastic paralysis | 3 tests |
| Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 1 test |
| Infertility associated with multi-tailed spermatozoa and excessive DNA | 3 tests |
| Infertility due to oligospermia | 1 test |
| Inflammatory bowel disease 1 | 1 test |
| Inflammatory bowel disease 13 | 1 test |
| Inflammatory bowel disease 25, autosomal recessive | 1 test |
| Inflammatory bowel disease 28, autosomal recessive | 1 test |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 1 test |
| Inflammatory skin and bowel disease, neonatal 1 | 1 test |
| Inflammatory skin and bowel disease, neonatal, 2 | 1 test |
| Inosine triphosphatase deficiency | 1 test |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 4 tests |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 test |
| Intellectual developmental disorder 60 with seizures | 1 test |
| Intellectual developmental disorder 61 | 1 test |
| Intellectual developmental disorder 62 | 1 test |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 test |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 1 test |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 test |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 test |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 1 test |
| Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 1 test |
| Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | 2 tests |
| Intellectual developmental disorder with persistence of fetal hemoglobin | 4 tests |
| Intellectual developmental disorder with seizures and language delay | 1 test |
| Intellectual developmental disorder with severe speech and ambulation defects | 2 tests |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 test |
| Intellectual developmental disorder, X-linked 108 | 1 test |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 test |
| Intellectual developmental disorder, autosomal recessive 67 | 1 test |
| Intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type | 1 test |
| Intellectual disability | 2 tests |
| Intellectual disability, X-linked 106 | 1 test |
| Intellectual disability, X-linked 21 | 2 tests |
| Intellectual disability, X-linked, syndromic, Houge type | 2 tests |
| Intellectual disability, autosomal dominant 45 | 2 tests |
| Intellectual disability, autosomal dominant 46 | 1 test |
| Intellectual disability, autosomal dominant 47 | 1 test |
| Intellectual disability, autosomal dominant 50 | 3 tests |
| Intellectual disability, autosomal dominant 51 | 3 tests |
| Intellectual disability, autosomal dominant 52 | 4 tests |
| Intellectual disability, autosomal dominant 54 | 1 test |
| Intellectual disability, autosomal dominant 55, with seizures | 2 tests |
| Intellectual disability, autosomal dominant 56 | 2 tests |
| Intellectual disability, autosomal dominant 9 | 4 tests |
| Intellectual disability, autosomal recessive 65 | 1 test |
| Intellectual disability, x-linked 107 | 1 test |
| Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | 6 tests |
| Intellectual disability-developmental delay-contractures syndrome | 3 tests |
| Interleukin 2 receptor, alpha, deficiency of | 3 tests |
| Interstitial lung and liver disease | 1 test |
| Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | 5 tests |
| Interstitial nephritis, karyomegalic | 1 test |
| Intervertebral disc disorder | 3 tests |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 8 tests |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies | 6 tests |
| Intrinsic factor deficiency | 1 test |
| Iodotyrosine deiodination defect | 2 tests |
| Iodotyrosyl coupling defect | 2 tests |
| Irido-corneo-trabecular dysgenesis | 7 tests |
| Islet cell adenomatosis | 2 tests |
| Islet cell hyperplasia | 5 tests |
| Isolated Nonsyndromic Congenital Heart Disease/Defects | 1 test |
| Isolated lutropin deficiency | 4 tests |
| Isolated sulfite oxidase deficiency | 3 tests |
| Isovaleryl-CoA dehydrogenase deficiency | 4 tests |
| Jaberi-Elahi syndrome | 1 test |
| Jackson-Weiss syndrome | 10 tests |
| Jarcho-Levin syndrome | 2 tests |
| Jervell and Lange-Nielsen syndrome | 1 test |
| Jervell and Lange-Nielsen syndrome 1 | 3 tests |
| Jervell and Lange-Nielsen syndrome 2 | 4 tests |
| Johanson-Blizzard syndrome | 7 tests |
| Joint laxity, short stature, and myopia | 1 test |
| Joubert syndrome | 3 tests |
| Joubert syndrome 1 | 4 tests |
| Joubert syndrome 10 | 9 tests |
| Joubert syndrome 12/15, digenic | 2 tests |
| Joubert syndrome 13 | 6 tests |
| Joubert syndrome 14 | 6 tests |
| Joubert syndrome 15 | 8 tests |
| Joubert syndrome 16 | 7 tests |
| Joubert syndrome 17 | 7 tests |
| Joubert syndrome 18 | 7 tests |
| Joubert syndrome 19 | 2 tests |
| Joubert syndrome 2 | 7 tests |
| Joubert syndrome 20 | 5 tests |
| Joubert syndrome 21 | 6 tests |
| Joubert syndrome 22 | 6 tests |
| Joubert syndrome 23 | 7 tests |
| Joubert syndrome 24 | 4 tests |
| Joubert syndrome 25 | 5 tests |
| Joubert syndrome 26 | 2 tests |
| Joubert syndrome 27 | 4 tests |
| Joubert syndrome 28 | 4 tests |
| Joubert syndrome 3 | 7 tests |
| Joubert syndrome 30 | 5 tests |
| Joubert syndrome 31 | 5 tests |
| Joubert syndrome 32 | 4 tests |
| Joubert syndrome 33 | 3 tests |
| Joubert syndrome 35 | 1 test |
| Joubert syndrome 4 | 7 tests |
| Joubert syndrome 5 | 9 tests |
| Joubert syndrome 6 | 7 tests |
| Joubert syndrome 7 | 10 tests |
| Joubert syndrome 8 | 7 tests |
| Joubert syndrome 9 | 10 tests |
| Joubert syndrome with hepatic defect | 7 tests |
| Junctional epidermolysis bullosa gravis of Herlitz | 6 tests |
| Junctional epidermolysis bullosa, non-Herlitz type | 8 tests |
| Juvenile myelomonocytic leukemia | 5 tests |
| Juvenile myoclonic epilepsy | 2 tests |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 1 test |
| Juvenile nephropathic cystinosis | 3 tests |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 7 tests |
| Juvenile primary lateral sclerosis | 1 test |
| Juvenile retinoschisis | 5 tests |
| KBG syndrome | 11 tests |
| Kabuki syndrome | 2 tests |
| Kabuki syndrome 1 | 13 tests |
| Kabuki syndrome 2 | 12 tests |
| Kahrizi syndrome | 3 tests |
| Kallmann syndrome 3 | 8 tests |
| Kartagener syndrome | 7 tests |
| Kearns Sayre syndrome | 1 test |
| Kennedy disease | 1 test |
| Kenny-Caffey syndrome type 2 | 4 tests |
| Keppen-Lubinsky syndrome | 2 tests |
| Keratitis fugax hereditaria | 1 test |
| Keratitis, hereditary | 3 tests |
| Keratitis-ichthyosis-deafness syndrome, autosomal dominant | 3 tests |
| Keratoconus 1 | 4 tests |
| Keratosis follicularis spinulosa decalvans, X-linked | 1 test |
| Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | 3 tests |
| Keratosis palmoplantaris striata 3 | 1 test |
| Keratosis palmoplantaris striata II | 2 tests |
| Keutel syndrome | 1 test |
| Kindler's syndrome | 3 tests |
| Kleefstra syndrome 1 | 7 tests |
| Kleefstra syndrome 2 | 1 test |
| Klein-Waardenberg's syndrome | 7 tests |
| Klippel-Feil syndrome 1, autosomal dominant | 3 tests |
| Klippel-Feil syndrome 2, autosomal recessive | 2 tests |
| Klippel-Feil syndrome 3, autosomal dominant | 3 tests |
| Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | 3 tests |
| Kniest dysplasia | 12 tests |
| Knobloch syndrome 1 | 7 tests |
| Knuckle pads, deafness AND leukonychia syndrome | 3 tests |
| Kohlschutter's syndrome | 5 tests |
| Koolen-de Vries syndrome | 4 tests |
| Kosaki overgrowth syndrome | 2 tests |
| Kostmann syndrome | 3 tests |
| Krabbe disease, atypical, due to saposin A deficiency | 3 tests |
| Kufor-Rakeb syndrome | 6 tests |
| Kugelberg-Welander disease | 1 test |
| L-2-hydroxyglutaric aciduria | 5 tests |
| LEOPARD syndrome 1 | 12 tests |
| LEOPARD syndrome 2 | 6 tests |
| LEOPARD syndrome 3 | 7 tests |
| Lactic acidosis | 2 tests |
| Lafora disease | 4 tests |
| Lamb-shaffer syndrome | 1 test |
| Langer mesomelic dysplasia syndrome | 1 test |
| Large congenital melanocytic nevus | 4 tests |
| Laron-type isolated somatotropin defect | 1 test |
| Larsen syndrome | 3 tests |
| Laryngo-onycho-cutaneous syndrome | 2 tests |
| Late-onset retinal degeneration | 4 tests |
| Lateral meningocele syndrome | 1 test |
| Lathosterolosis | 1 test |
| Lattice corneal dystrophy Type I | 2 tests |
| Lattice corneal dystrophy Type III | 2 tests |
| Laurin-Sandrow syndrome | 3 tests |
| Leber congenital amaurosis 1 | 5 tests |
| Leber congenital amaurosis 10 | 7 tests |
| Leber congenital amaurosis 11 | 3 tests |
| Leber congenital amaurosis 12 | 5 tests |
| Leber congenital amaurosis 13 | 7 tests |
| Leber congenital amaurosis 14 | 7 tests |
| Leber congenital amaurosis 15 | 3 tests |
| Leber congenital amaurosis 16 | 3 tests |
| Leber congenital amaurosis 17 | 2 tests |
| Leber congenital amaurosis 2 | 3 tests |
| Leber congenital amaurosis 3 | 5 tests |
| Leber congenital amaurosis 4 | 7 tests |
| Leber congenital amaurosis 5 | 7 tests |
| Leber congenital amaurosis 6 | 6 tests |
| Leber congenital amaurosis 7 | 6 tests |
| Leber congenital amaurosis 8 | 3 tests |
| Leber congenital amaurosis 9 | 3 tests |
| Leber congenital amaurosis with early-onset deafness | 1 test |
| Leber's optic atrophy | 1 test |
| Left ventricular noncompaction 1 | 5 tests |
| Left ventricular noncompaction 10 | 5 tests |
| Left ventricular noncompaction 6 | 3 tests |
| Left ventricular noncompaction 7 | 3 tests |
| Left ventricular noncompaction 8 | 3 tests |
| Legius syndrome | 2 tests |
| Leigh syndrome | 21 tests |
| Lenz microphthalmia syndrome | 7 tests |
| Lenz-Majewski hyperostosis syndrome | 5 tests |
| Leprechaunism syndrome | 2 tests |
| Leptin deficiency or dysfunction | 8 tests |
| Leptin receptor deficiency | 8 tests |
| Leri-Weill dyschondrosteosis | 1 test |
| Lesch-Nyhan syndrome | 3 tests |
| Lethal acantholytic epidermolysis bullosa | 3 tests |
| Lethal arthrogryposis with anterior horn cell disease | 3 tests |
| Lethal congenital contracture syndrome 1 | 4 tests |
| Lethal congenital contracture syndrome 10 | 1 test |
| Lethal congenital contracture syndrome 11 | 2 tests |
| Lethal congenital contracture syndrome 5 | 2 tests |
| Lethal congenital contracture syndrome 8 | 1 test |
| Lethal multiple pterygium syndrome | 8 tests |
| Lethal osteosclerotic bone dysplasia | 1 test |
| Lethal tight skin contracture syndrome | 6 tests |
| Lethargy | 1 test |
| Leucine-induced hypoglycemia | 3 tests |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 1 test |
| Leukocyte adhesion deficiency 1 | 1 test |
| Leukocyte adhesion deficiency type II | 2 tests |
| Leukocyte adhesion deficiency, type III | 1 test |
| Leukodystrophy and acquired microcephaly with or without dystonia | 1 test |
| Leukodystrophy, adult-onset, autosomal dominant | 2 tests |
| Leukodystrophy, hypomyelinating, 10 | 1 test |
| Leukodystrophy, hypomyelinating, 11 | 2 tests |
| Leukodystrophy, hypomyelinating, 12 | 1 test |
| Leukodystrophy, hypomyelinating, 13 | 1 test |
| Leukodystrophy, hypomyelinating, 14 | 1 test |
| Leukodystrophy, hypomyelinating, 15 | 1 test |
| Leukodystrophy, hypomyelinating, 16 | 1 test |
| Leukodystrophy, hypomyelinating, 17 | 1 test |
| Leukodystrophy, hypomyelinating, 18 | 2 tests |
| Leukodystrophy, hypomyelinating, 2 | 3 tests |
| Leukodystrophy, hypomyelinating, 4 | 3 tests |
| Leukodystrophy, hypomyelinating, 6 | 3 tests |
| Leukodystrophy, hypomyelinating, 9 | 2 tests |
| Leukoencephalopathy with ataxia | 3 tests |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 3 tests |
| Leukoencephalopathy with dystonia and motor neuropathy | 4 tests |
| Leukoencephalopathy with vanishing white matter | 13 tests |
| Leukoencephalopathy, cystic, without megalencephaly | 1 test |
| Leukoencephalopathy, progressive, with ovarian failure | 4 tests |
| Levy-Hollister syndrome | 14 tests |
| Lewy body dementia | 3 tests |
| Leydig cell hypoplasia, type 1 | 2 tests |
| Li-Fraumeni syndrome 1 | 19 tests |
| Li-Fraumeni syndrome 2 | 5 tests |
| Liang-Wang syndrome | 4 tests |
| Lichtenstein-knorr syndrome | 1 test |
| Liddle syndrome | 2 tests |
| Liebenberg syndrome | 3 tests |
| Lig4 syndrome | 4 tests |
| Limb-girdle muscular dystrophy, type 1B | 4 tests |
| Limb-girdle muscular dystrophy, type 1E | 4 tests |
| Limb-girdle muscular dystrophy, type 1F | 3 tests |
| Limb-girdle muscular dystrophy, type 1G | 3 tests |
| Limb-girdle muscular dystrophy, type 2A | 3 tests |
| Limb-girdle muscular dystrophy, type 2J | 4 tests |
| Limb-girdle muscular dystrophy, type 2L | 3 tests |
| Limb-girdle muscular dystrophy, type 2Q | 5 tests |
| Limb-girdle muscular dystrophy, type 2S | 3 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | 2 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 2 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 3 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 5 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 7 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | 5 tests |
| Limb-mammary syndrome | 5 tests |
| Linear skin defects with multiple congenital anomalies 1 | 7 tests |
| Linear skin defects with multiple congenital anomalies 2 | 3 tests |
| Linear skin defects with multiple congenital anomalies 3 | 3 tests |
| Lipase deficiency, combined | 2 tests |
| Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | 3 tests |
| Lipodystrophy, congenital generalized, type 3 | 4 tests |
| Lipodystrophy, congenital generalized, type 4 | 5 tests |
| Lipoyltransferase 1 deficiency | 3 tests |
| Lissencephaly 10 | 2 tests |
| Lissencephaly 2, X-linked | 13 tests |
| Lissencephaly 3 | 5 tests |
| Lissencephaly 4 | 5 tests |
| Lissencephaly 5 | 3 tests |
| Lissencephaly 6, with microcephaly | 4 tests |
| Lissencephaly 7 with cerebellar hypoplasia | 2 tests |
| Lissencephaly 8 | 3 tests |
| Lissencephaly 9 with complex brainstem malformation | 4 tests |
| Lissencephaly due to LIS1 mutation | 5 tests |
| Lissencephaly, X-linked | 6 tests |
| Localized epidermolysis bullosa simplex | 5 tests |
| Loeys-Dietz syndrome 1 | 6 tests |
| Loeys-Dietz syndrome 2 | 11 tests |
| Loeys-Dietz syndrome 3 | 9 tests |
| Loeys-Dietz syndrome 4 | 8 tests |
| Loeys-Dietz syndrome 5 | 8 tests |
| Long QT syndrome | 1 test |
| Long QT syndrome 1 | 2 tests |
| Long QT syndrome 10 | 5 tests |
| Long QT syndrome 11 | 5 tests |
| Long QT syndrome 12 | 5 tests |
| Long QT syndrome 13 | 4 tests |
| Long QT syndrome 14 | 5 tests |
| Long QT syndrome 15 | 3 tests |
| Long QT syndrome 16 | 2 tests |
| Long QT syndrome 2 | 6 tests |
| Long QT syndrome 3 | 7 tests |
| Long QT syndrome 5 |