Invitae, Invitae
General information
Invitae, Invitae
1400 16th Street
San Francisco
California
United States - 94103
https://www.invitae.com/
Organization ID: 500031
1400 16th Street
San Francisco
California
United States - 94103
https://www.invitae.com/
Organization ID: 500031
Personnel
- Michele Cargill
- John Garcia, Coordinator
Phone: 800-436-3037
Email: john.garcia@invitae.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 133573
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 77 | Mar 14, 2017 |
| AARS | 145 | Aug 29, 2018 |
| ABAT | 46 | Aug 29, 2018 |
| ABCC9 | 121 | Aug 29, 2018 |
| ABCD1 | 81 | Aug 29, 2018 |
| ABCD4 | 10 | Aug 29, 2018 |
| ABCG5 | 2 | Apr 2, 2018 |
| ABRAXAS1 | 46 | Mar 14, 2017 |
| ACAD8 | 13 | Aug 29, 2018 |
| ACADM | 55 | Aug 29, 2018 |
| ACADS | 35 | Aug 29, 2018 |
| ACADSB | 15 | Aug 29, 2018 |
| ACADVL | 129 | Aug 29, 2018 |
| ACAT1 | 8 | Aug 29, 2018 |
| ACD | 26 | Aug 29, 2018 |
| ACOX1 | 5 | Aug 29, 2018 |
| ACP5 | 18 | Aug 29, 2018 |
| ACSF3 | 9 | Aug 29, 2018 |
| ACTA1 | 55 | Aug 29, 2018 |
| ACTA2 | 58 | Aug 29, 2018 |
| ACTB | 21 | Aug 29, 2018 |
| ACTC1 | 57 | Aug 29, 2018 |
| ACTG1 | 10 | Apr 2, 2018 |
| ACTN2 | 206 | Aug 29, 2018 |
| ACVR2B | 13 | Aug 29, 2018 |
| ACVRL1 | 114 | Aug 29, 2018 |
| ADA | 25 | Aug 29, 2018 |
| ADA2 | 37 | Aug 29, 2018 |
| ADAM17 | 25 | Aug 29, 2018 |
| ADAMTS2 | 99 | Aug 29, 2018 |
| ADAR | 33 | Aug 29, 2018 |
| ADSL | 58 | Aug 29, 2018 |
| AFF4 | 2 | Aug 29, 2018 |
| AGA | 7 | Aug 29, 2018 |
| AGK | 7 | Aug 29, 2018 |
| AGL | 242 | Aug 29, 2018 |
| AGRN | 261 | Aug 29, 2018 |
| AHCY | 8 | Aug 29, 2018 |
| AHI1 | 48 | Aug 29, 2018 |
| AICDA | 13 | Aug 29, 2018 |
| AIFM1 | 25 | Aug 29, 2018 |
| AIPL1 | 7 | Aug 29, 2018 |
| AIRE | 58 | Aug 29, 2018 |
| AK2 | 16 | Aug 29, 2018 |
| AKAP9 | 257 | Aug 29, 2018 |
| AKT1 | 101 | Aug 29, 2018 |
| AKT2 | 5 | Apr 2, 2018 |
| AKT3 | 5 | Aug 29, 2018 |
| ALDH18A1 | 29 | Aug 29, 2018 |
| ALDH1A3 | 3 | Apr 2, 2018 |
| ALDH4A1 | 15 | Aug 29, 2018 |
| ALDH5A1 | 85 | Aug 29, 2018 |
| ALDH7A1 | 84 | Aug 29, 2018 |
| ALDOA | 4 | Aug 29, 2018 |
| ALDOB | 3 | Aug 29, 2018 |
| ALG1 | 13 | Aug 29, 2018 |
| ALG11 | 11 | Aug 29, 2018 |
| ALG12 | 9 | Aug 29, 2018 |
| ALG13 | 69 | Aug 29, 2018 |
| ALG14 | 14 | Aug 29, 2018 |
| ALG2 | 32 | Aug 29, 2018 |
| ALG3 | 2 | Aug 29, 2018 |
| ALG6 | 8 | Aug 29, 2018 |
| ALG8 | 5 | Aug 29, 2018 |
| ALG9 | 7 | Apr 2, 2018 |
| ALK | 703 | Aug 29, 2018 |
| ALMS1 | 319 | Aug 29, 2018 |
| ALS2 | 60 | Aug 29, 2018 |
| AMACR | 3 | Aug 29, 2018 |
| AMN | 8 | Aug 29, 2018 |
| AMPD1 | 7 | Aug 29, 2018 |
| AMPD2 | 13 | Aug 29, 2018 |
| AMT | 27 | Aug 29, 2018 |
| ANK2 | 383 | Aug 29, 2018 |
| ANKRD1 | 45 | Aug 29, 2018 |
| ANKRD11 | 13 | Aug 29, 2018 |
| ANKS6 | 36 | Aug 29, 2018 |
| ANO3 | 23 | Aug 29, 2018 |
| ANO5 | 108 | Aug 29, 2018 |
| ANOS1 | 7 | Aug 29, 2018 |
| AP3B1 | 38 | Aug 29, 2018 |
| AP4B1 | 28 | Aug 29, 2018 |
| AP4E1 | 27 | Aug 29, 2018 |
| AP4M1 | 24 | Aug 29, 2018 |
| AP4S1 | 10 | Aug 29, 2018 |
| AP5Z1 | 88 | Aug 29, 2018 |
| APC | 2498 | Aug 29, 2018 |
| APOB | 292 | Aug 29, 2018 |
| APP | 7 | Aug 29, 2018 |
| AR | 54 | Aug 29, 2018 |
| ARG1 | 13 | Aug 29, 2018 |
| ARHGEF15 | 87 | Aug 29, 2018 |
| ARHGEF9 | 28 | Aug 29, 2018 |
| ARL13B | 10 | Aug 29, 2018 |
| ARL6 | 2 | Aug 29, 2018 |
| ARL6IP1 | 5 | Aug 29, 2018 |
| ARMC4 | 96 | Aug 29, 2018 |
| ARSA | 27 | Aug 29, 2018 |
| ARSB | 8 | Aug 29, 2018 |
| ARSE | 3 | Oct 5, 2017 |
| ARSI | 16 | Aug 29, 2018 |
| ARX | 57 | Aug 29, 2018 |
| ASL | 30 | Aug 29, 2018 |
| ASPA | 6 | Aug 29, 2018 |
| ASS1 | 48 | Aug 29, 2018 |
| ATL1 | 48 | Aug 29, 2018 |
| ATL3 | 45 | Aug 29, 2018 |
| ATM | 3251 | Aug 29, 2018 |
| ATP13A2 | 58 | Aug 29, 2018 |
| ATP1A2 | 94 | Aug 29, 2018 |
| ATP1A3 | 95 | Aug 29, 2018 |
| ATP2A1 | 73 | Aug 29, 2018 |
| ATP6AP2 | 15 | Aug 29, 2018 |
| ATP6V0A2 | 9 | Aug 29, 2018 |
| ATP7A | 87 | Aug 29, 2018 |
| ATP7B | 96 | Aug 29, 2018 |
| ATRX | 108 | Aug 29, 2018 |
| AUH | 9 | Aug 29, 2018 |
| AXIN2 | 733 | Aug 29, 2018 |
| B2M | 1 | Apr 2, 2018 |
| B3GALNT2 | 46 | Aug 29, 2018 |
| B3GALT6 | 6 | Aug 29, 2018 |
| B3GAT3 | 4 | Aug 29, 2018 |
| B3GLCT | 5 | Aug 29, 2018 |
| B4GALNT1 | 25 | Aug 29, 2018 |
| B4GALT7 | 1 | Apr 2, 2018 |
| B4GAT1 | 26 | Aug 29, 2018 |
| B9D1 | 9 | Apr 2, 2018 |
| B9D2 | 5 | Oct 5, 2017 |
| BAG3 | 147 | Aug 29, 2018 |
| BAP1 | 333 | Aug 29, 2018 |
| BARD1 | 787 | Aug 29, 2018 |
| BBS1 | 33 | Aug 29, 2018 |
| BBS10 | 28 | Aug 29, 2018 |
| BBS12 | 29 | Aug 29, 2018 |
| BBS2 | 20 | Aug 29, 2018 |
| BBS4 | 22 | Aug 29, 2018 |
| BBS5 | 15 | Aug 29, 2018 |
| BBS7 | 19 | Aug 29, 2018 |
| BBS9 | 44 | Aug 29, 2018 |
| BCKDHA | 15 | Aug 29, 2018 |
| BCKDHB | 23 | Aug 29, 2018 |
| BCKDK | 1 | Aug 29, 2018 |
| BCL10 | 6 | Aug 29, 2018 |
| BCOR | 43 | Aug 29, 2018 |
| BFSP1 | 14 | Aug 29, 2018 |
| BFSP2 | 6 | Apr 2, 2018 |
| BICD2 | 84 | Aug 29, 2018 |
| BIN1 | 62 | Aug 29, 2018 |
| BLM | 555 | Aug 29, 2018 |
| BLNK | 20 | Aug 29, 2018 |
| BLOC1S6 | 6 | Aug 29, 2018 |
| BMP4 | 3 | Apr 2, 2018 |
| BMPR1A | 368 | Aug 29, 2018 |
| BMPR1B | 5 | Aug 29, 2018 |
| BMPR2 | 30 | Aug 29, 2018 |
| BRAF | 60 | Aug 29, 2018 |
| BRAT1 | 171 | Aug 29, 2018 |
| BRCA1 | 2086 | Nov 5, 2018 |
| BRCA2 | 3729 | Aug 29, 2018 |
| BRIP1 | 1072 | Aug 29, 2018 |
| BSCL2 | 60 | Aug 29, 2018 |
| BTD | 43 | Aug 29, 2018 |
| BTK | 25 | Aug 29, 2018 |
| BUB1B | 121 | Aug 29, 2018 |
| C12orf57 | 23 | Aug 29, 2018 |
| C12orf65 | 3 | Aug 29, 2018 |
| C19orf12 | 14 | Aug 29, 2018 |
| C1GALT1C1 | 1 | Oct 5, 2017 |
| C1QTNF5 | 3 | Aug 29, 2018 |
| CA5A | 4 | Aug 29, 2018 |
| CACNA1A | 227 | Aug 29, 2018 |
| CACNA1C | 381 | Aug 29, 2018 |
| CACNA1C-AS1 | 1 | Apr 2, 2018 |
| CACNA1H | 417 | Aug 29, 2018 |
| CACNA1S | 220 | Aug 29, 2018 |
| CACNA2D1 | 57 | Aug 29, 2018 |
| CACNA2D2 | 131 | Aug 29, 2018 |
| CACNB2 | 85 | Aug 29, 2018 |
| CACNB4 | 32 | Aug 29, 2018 |
| CALM1 | 11 | Aug 29, 2018 |
| CALM2 | 12 | Aug 29, 2018 |
| CALM3 | 14 | Aug 29, 2018 |
| CALR3 | 47 | Aug 29, 2018 |
| CAPN3 | 144 | Aug 29, 2018 |
| CARD11 | 66 | Aug 29, 2018 |
| CARD14 | 90 | Aug 29, 2018 |
| CARD9 | 43 | Aug 29, 2018 |
| CARS2 | 61 | Aug 29, 2018 |
| CASK | 37 | Aug 29, 2018 |
| CASP10 | 31 | Aug 29, 2018 |
| CASP8 | 14 | Aug 29, 2018 |
| CASQ2 | 53 | Aug 29, 2018 |
| CASR | 338 | Aug 29, 2018 |
| CAV1 | 4 | Aug 29, 2018 |
| CAV3 | 53 | Aug 29, 2018 |
| CBL | 135 | Aug 29, 2018 |
| CBLIF | 10 | Aug 29, 2018 |
| CBS | 139 | Aug 29, 2018 |
| CC2D2A | 51 | Aug 29, 2018 |
| CCDC103 | 17 | Aug 29, 2018 |
| CCDC114 | 81 | Aug 29, 2018 |
| CCDC151 | 43 | Aug 29, 2018 |
| CCDC39 | 109 | Aug 29, 2018 |
| CCDC40 | 162 | Aug 29, 2018 |
| CCDC65 | 34 | Aug 29, 2018 |
| CCDC78 | 78 | Aug 29, 2018 |
| CCM2 | 11 | Aug 29, 2018 |
| CCNO | 32 | Aug 29, 2018 |
| CCT5 | 24 | Aug 29, 2018 |
| CD247 | 15 | Aug 29, 2018 |
| CD27 | 11 | Aug 29, 2018 |
| CD320 | 3 | Aug 29, 2018 |
| CD3D | 8 | Apr 2, 2018 |
| CD3E | 10 | Aug 29, 2018 |
| CD3G | 11 | Aug 29, 2018 |
| CD40LG | 13 | Aug 29, 2018 |
| CD79A | 10 | Aug 29, 2018 |
| CD79B | 7 | Aug 29, 2018 |
| CD8A | 9 | Aug 29, 2018 |
| CDC73 | 155 | Aug 29, 2018 |
| CDH1 | 909 | Aug 29, 2018 |
| CDK4 | 121 | Aug 29, 2018 |
| CDKL5 | 77 | Aug 29, 2018 |
| CDKN1B | 122 | Aug 29, 2018 |
| CDKN1C | 231 | Aug 29, 2018 |
| CDKN2A | 289 | Aug 29, 2018 |
| CDON | 11 | Apr 2, 2018 |
| CEBPA | 141 | Aug 29, 2018 |
| CEBPE | 11 | Aug 29, 2018 |
| CEP104 | 15 | Aug 29, 2018 |
| CEP120 | 16 | Aug 29, 2018 |
| CEP164 | 29 | Aug 29, 2018 |
| CEP290 | 119 | Aug 29, 2018 |
| CEP41 | 6 | Aug 29, 2018 |
| CEP57 | 43 | Aug 29, 2018 |
| CEP83 | 11 | Aug 29, 2018 |
| CERS1 | 33 | Aug 29, 2018 |
| CFAP298 | 28 | Aug 29, 2018 |
| CFAP52 | 8 | Aug 29, 2018 |
| CFAP53 | 7 | Apr 2, 2018 |
| CFL2 | 7 | Aug 29, 2018 |
| CFTR | 223 | Aug 29, 2018 |
| CHAT | 78 | Aug 29, 2018 |
| CHCHD10 | 25 | Aug 29, 2018 |
| CHD2 | 138 | Aug 29, 2018 |
| CHD7 | 211 | Aug 29, 2018 |
| CHEK2 | 860 | Aug 29, 2018 |
| CHIT1 | 6 | Aug 29, 2018 |
| CHKB | 28 | Aug 29, 2018 |
| CHMP2B | 4 | Aug 29, 2018 |
| CHMP4B | 1 | Apr 2, 2018 |
| CHRM2 | 15 | Aug 29, 2018 |
| CHRNA1 | 43 | Aug 29, 2018 |
| CHRNA2 | 74 | Aug 29, 2018 |
| CHRNA4 | 141 | Aug 29, 2018 |
| CHRNB1 | 37 | Aug 29, 2018 |
| CHRNB2 | 53 | Aug 29, 2018 |
| CHRND | 50 | Aug 29, 2018 |
| CHRNE | 78 | Aug 29, 2018 |
| CHST14 | 11 | Aug 29, 2018 |
| CHST3 | 4 | Aug 29, 2018 |
| CHST6 | 4 | Apr 2, 2018 |
| CHSY1 | 7 | Aug 29, 2018 |
| CIITA | 57 | Aug 29, 2018 |
| CIZ1 | 26 | Aug 29, 2018 |
| CLCN1 | 134 | Aug 29, 2018 |
| CLCN4 | 12 | Mar 14, 2017 |
| CLN3 | 74 | Aug 29, 2018 |
| CLN5 | 62 | Aug 29, 2018 |
| CLN6 | 56 | Aug 29, 2018 |
| CLN8 | 48 | Aug 29, 2018 |
| CLPB | 37 | Aug 29, 2018 |
| CNTN1 | 53 | Aug 29, 2018 |
| CNTN2 | 68 | Aug 29, 2018 |
| CNTNAP2 | 195 | Aug 29, 2018 |
| COASY | 4 | Aug 29, 2018 |
| COG1 | 3 | Aug 29, 2018 |
| COG2 | 5 | Aug 29, 2018 |
| COG4 | 10 | Aug 29, 2018 |
| COG5 | 13 | Aug 29, 2018 |
| COG6 | 9 | Aug 29, 2018 |
| COG7 | 3 | Aug 29, 2018 |
| COG8 | 3 | Oct 5, 2017 |
| COL12A1 | 232 | Aug 29, 2018 |
| COL1A1 | 258 | Aug 29, 2018 |
| COL1A2 | 140 | Aug 29, 2018 |
| COL3A1 | 235 | Aug 29, 2018 |
| COL5A1 | 441 | Aug 29, 2018 |
| COL5A2 | 198 | Aug 29, 2018 |
| COL6A1 | 210 | Aug 29, 2018 |
| COL6A2 | 255 | Aug 29, 2018 |
| COL6A3 | 395 | Aug 29, 2018 |
| COLQ | 44 | Aug 29, 2018 |
| COPA | 28 | Aug 29, 2018 |
| COQ4 | 38 | Aug 29, 2018 |
| CORO1A | 13 | Aug 29, 2018 |
| CP | 26 | Aug 29, 2018 |
| CPA6 | 32 | Aug 29, 2018 |
| CPLANE1 | 86 | Aug 29, 2018 |
| CPS1 | 47 | Aug 29, 2018 |
| CPT1A | 25 | Aug 29, 2018 |
| CPT1C | 17 | Aug 29, 2018 |
| CPT2 | 82 | Aug 29, 2018 |
| CR2 | 50 | Aug 29, 2018 |
| CRB1 | 13 | Aug 29, 2018 |
| CREBBP | 48 | Aug 29, 2018 |
| CRELD1 | 18 | Apr 2, 2018 |
| CRPPA | 52 | Aug 29, 2018 |
| CRTAP | 32 | Aug 29, 2018 |
| CRX | 1 | Oct 5, 2017 |
| CRYAA | 7 | Aug 29, 2018 |
| CRYAB | 28 | Aug 29, 2018 |
| CRYBA1 | 3 | Aug 29, 2018 |
| CRYBA4 | 4 | Aug 29, 2018 |
| CRYBB1 | 4 | Aug 29, 2018 |
| CRYBB2 | 7 | Aug 29, 2018 |
| CRYBB3 | 6 | Apr 2, 2018 |
| CRYGB | 4 | Aug 29, 2018 |
| CRYGC | 7 | Apr 2, 2018 |
| CRYGD | 9 | Aug 29, 2018 |
| CRYGS | 2 | Apr 2, 2018 |
| CSF2RA | 23 | Aug 29, 2018 |
| CSF3R | 35 | Aug 29, 2018 |
| CSPP1 | 23 | Aug 29, 2018 |
| CSRP3 | 59 | Aug 29, 2018 |
| CSTB | 23 | Aug 29, 2018 |
| CTC1 | 106 | Aug 29, 2018 |
| CTF1 | 17 | Aug 29, 2018 |
| CTLA4 | 22 | Aug 29, 2018 |
| CTNNA1 | 35 | Mar 14, 2017 |
| CTNNA3 | 105 | Aug 29, 2018 |
| CTNS | 16 | Aug 29, 2018 |
| CTPS1 | 14 | Aug 29, 2018 |
| CTRC | 34 | Aug 29, 2018 |
| CTSA | 6 | Aug 29, 2018 |
| CTSC | 11 | Aug 29, 2018 |
| CTSD | 71 | Aug 29, 2018 |
| CTSF | 2 | Aug 29, 2018 |
| CUBN | 51 | Aug 29, 2018 |
| CUL4B | 9 | Aug 29, 2018 |
| CXCR4 | 6 | Aug 29, 2018 |
| CYBA | 21 | Aug 29, 2018 |
| CYBB | 20 | Aug 29, 2018 |
| CYP1B1 | 12 | Aug 29, 2018 |
| CYP27A1 | 9 | Aug 29, 2018 |
| CYP2U1 | 12 | Aug 29, 2018 |
| CYP7B1 | 27 | Aug 29, 2018 |
| D2HGDH | 6 | Aug 29, 2018 |
| DAG1 | 77 | Aug 29, 2018 |
| DBH | 9 | Aug 29, 2018 |
| DBT | 21 | Aug 29, 2018 |
| DCAF17 | 4 | Aug 29, 2018 |
| DCDC2 | 10 | Aug 29, 2018 |
| DCLRE1B | 16 | Aug 29, 2018 |
| DCLRE1C | 41 | Aug 29, 2018 |
| DCTN1 | 131 | Aug 29, 2018 |
| DDC | 5 | Aug 29, 2018 |
| DDHD1 | 28 | Aug 29, 2018 |
| DDHD2 | 26 | Aug 29, 2018 |
| DDOST | 5 | Aug 29, 2018 |
| DECR1 | 1 | Apr 2, 2018 |
| DEPDC5 | 232 | Aug 29, 2018 |
| DES | 133 | Aug 29, 2018 |
| DHCR7 | 26 | Aug 29, 2018 |
| DHDDS | 4 | Aug 29, 2018 |
| DHH | 2 | Apr 2, 2018 |
| DHTKD1 | 8 | Aug 29, 2018 |
| DIAPH1 | 70 | Aug 29, 2018 |
| DICER1 | 1069 | Aug 29, 2018 |
| DIS3L2 | 381 | Aug 29, 2018 |
| DKC1 | 22 | Aug 29, 2018 |
| DLAT | 3 | Aug 29, 2018 |
| DLD | 8 | Aug 29, 2018 |
| DMD | 844 | Aug 29, 2018 |
| DNAAF1 | 102 | Aug 29, 2018 |
| DNAAF2 | 88 | Aug 29, 2018 |
| DNAAF3 | 75 | Aug 29, 2018 |
| DNAAF4 | 41 | Aug 29, 2018 |
| DNAAF5 | 103 | Aug 29, 2018 |
| DNAH1 | 283 | Aug 29, 2018 |
| DNAH11 | 536 | Aug 29, 2018 |
| DNAH5 | 500 | Aug 29, 2018 |
| DNAH8 | 324 | Aug 29, 2018 |
| DNAI1 | 75 | Aug 29, 2018 |
| DNAI2 | 71 | Aug 29, 2018 |
| DNAJB2 | 28 | Aug 29, 2018 |
| DNAJB6 | 24 | Aug 29, 2018 |
| DNAJC19 | 4 | Aug 29, 2018 |
| DNAJC5 | 32 | Aug 29, 2018 |
| DNAJC6 | 11 | Aug 29, 2018 |
| DNAL1 | 14 | Aug 29, 2018 |
| DNM1 | 55 | Aug 29, 2018 |
| DNM2 | 118 | Aug 29, 2018 |
| DNMT1 | 128 | Aug 29, 2018 |
| DNMT3A | 20 | Aug 29, 2018 |
| DNMT3B | 37 | Aug 29, 2018 |
| DOCK2 | 78 | Aug 29, 2018 |
| DOCK7 | 134 | Aug 29, 2018 |
| DOCK8 | 132 | Aug 29, 2018 |
| DOK7 | 100 | Aug 29, 2018 |
| DOLK | 57 | Aug 29, 2018 |
| DPAGT1 | 18 | Aug 29, 2018 |
| DPM1 | 30 | Aug 29, 2018 |
| DPM2 | 8 | Aug 29, 2018 |
| DPM3 | 6 | Aug 29, 2018 |
| DRC1 | 70 | Aug 29, 2018 |
| DRD2 | 12 | Aug 29, 2018 |
| DSC2 | 160 | Aug 29, 2018 |
| DSE | 4 | Aug 29, 2018 |
| DSG2 | 182 | Aug 29, 2018 |
| DSP | 497 | Aug 29, 2018 |
| DST | 220 | Aug 29, 2018 |
| DTNA | 44 | Aug 29, 2018 |
| DYNC1H1 | 365 | Aug 29, 2018 |
| DYNC2H1 | 103 | Aug 29, 2018 |
| DYRK1A | 58 | Aug 29, 2018 |
| DYSF | 283 | Aug 29, 2018 |
| EDA | 52 | Aug 29, 2018 |
| EDAR | 26 | Aug 29, 2018 |
| EDARADD | 6 | Aug 29, 2018 |
| EED | 3 | Aug 29, 2018 |
| EEF1A2 | 44 | Aug 29, 2018 |
| EFEMP2 | 61 | Aug 29, 2018 |
| EFHC1 | 78 | Aug 29, 2018 |
| EGFR | 1 | Aug 29, 2018 |
| EGLN1 | 24 | Aug 29, 2018 |
| EGR2 | 45 | Aug 29, 2018 |
| EHMT1 | 163 | Aug 29, 2018 |
| ELAC2 | 62 | Aug 29, 2018 |
| ELANE | 30 | Aug 29, 2018 |
| ELN | 63 | Aug 29, 2018 |
| ELP1 | 124 | Aug 29, 2018 |
| EMD | 50 | Aug 29, 2018 |
| ENG | 222 | Aug 29, 2018 |
| ENO3 | 5 | Aug 29, 2018 |
| ENTPD1 | 6 | Apr 2, 2018 |
| EOGT | 2 | Aug 29, 2018 |
| EP300 | 30 | Aug 29, 2018 |
| EPCAM | 137 | Oct 25, 2018 |
| EPG5 | 92 | Aug 29, 2018 |
| EPHA2 | 28 | Aug 29, 2018 |
| EPM2A | 58 | Aug 29, 2018 |
| ERCC4 | 61 | Aug 29, 2018 |
| ERF | 16 | Aug 29, 2018 |
| ERLIN1 | 1 | Oct 5, 2017 |
| ERLIN2 | 14 | Aug 29, 2018 |
| ETFA | 9 | Aug 29, 2018 |
| ETFB | 8 | Aug 29, 2018 |
| ETFDH | 25 | Aug 29, 2018 |
| ETHE1 | 6 | Aug 29, 2018 |
| EVC | 39 | Aug 29, 2018 |
| EVC2 | 46 | Aug 29, 2018 |
| EXOSC3 | 6 | Aug 29, 2018 |
| EXT1 | 49 | Aug 29, 2018 |
| EXT2 | 34 | Aug 29, 2018 |
| EYA1 | 19 | Aug 29, 2018 |
| EYA4 | 69 | Aug 29, 2018 |
| EZH2 | 33 | Aug 29, 2018 |
| F2 | 1 | Aug 29, 2018 |
| F5 | 3 | Aug 29, 2018 |
| F9 | 12 | Aug 29, 2018 |
| FA2H | 23 | Aug 29, 2018 |
| FADD | 6 | Aug 29, 2018 |
| FAH | 17 | Aug 29, 2018 |
| FAM126A | 8 | Aug 29, 2018 |
| FANCA | 338 | Aug 29, 2018 |
| FANCB | 61 | Aug 29, 2018 |
| FANCC | 247 | Aug 29, 2018 |
| FANCD2 | 106 | Aug 29, 2018 |
| FANCE | 72 | Aug 29, 2018 |
| FANCF | 50 | Aug 29, 2018 |
| FANCG | 80 | Aug 29, 2018 |
| FANCI | 180 | Aug 29, 2018 |
| FANCL | 55 | Aug 29, 2018 |
| FANCM | 134 | Aug 29, 2018 |
| FARS2 | 43 | Aug 29, 2018 |
| FAS | 17 | Aug 29, 2018 |
| FASLG | 11 | Aug 29, 2018 |
| FASN | 278 | Aug 29, 2018 |
| FBN1 | 816 | Aug 29, 2018 |
| FBN2 | 373 | Aug 29, 2018 |
| FBP1 | 9 | Aug 29, 2018 |
| FBXO38 | 68 | Aug 29, 2018 |
| FBXO7 | 5 | Apr 2, 2018 |
| FERMT3 | 29 | Aug 29, 2018 |
| FGD4 | 71 | Aug 29, 2018 |
| FGFR1 | 23 | Aug 29, 2018 |
| FGFR2 | 47 | Aug 29, 2018 |
| FGFR3 | 58 | Aug 29, 2018 |
| FH | 291 | Aug 29, 2018 |
| FHL1 | 57 | Aug 29, 2018 |
| FHL2 | 28 | Aug 29, 2018 |
| FIG4 | 97 | Aug 29, 2018 |
| FKBP14 | 18 | Aug 29, 2018 |
| FKRP | 114 | Aug 29, 2018 |
| FKTN | 82 | Aug 29, 2018 |
| FLCN | 330 | Aug 29, 2018 |
| FLNA | 337 | Aug 29, 2018 |
| FLNC | 700 | Aug 29, 2018 |
| FLRT1 | 36 | Aug 29, 2018 |
| FOLR1 | 22 | Aug 29, 2018 |
| FOXC1 | 29 | Aug 29, 2018 |
| FOXE3 | 1 | Oct 5, 2017 |
| FOXG1 | 56 | Aug 29, 2018 |
| FOXH1 | 24 | Aug 29, 2018 |
| FOXN1 | 29 | Aug 29, 2018 |
| FOXP3 | 13 | Aug 29, 2018 |
| FPR1 | 16 | Aug 29, 2018 |
| FRRS1L | 45 | Aug 29, 2018 |
| FTCD | 19 | Aug 29, 2018 |
| FTL | 3 | Aug 29, 2018 |
| FUCA1 | 10 | Aug 29, 2018 |
| FUS | 18 | Aug 29, 2018 |
| FYCO1 | 29 | Apr 2, 2018 |
| G6PC | 14 | Aug 29, 2018 |
| G6PC3 | 13 | Aug 29, 2018 |
| G6PD | 16 | Aug 29, 2018 |
| GAA | 302 | Aug 29, 2018 |
| GABBR2 | 41 | Aug 29, 2018 |
| GABRA1 | 35 | Aug 29, 2018 |
| GABRA6 | 10 | Oct 5, 2017 |
| GABRB2 | 26 | Aug 29, 2018 |
| GABRB3 | 54 | Aug 29, 2018 |
| GABRD | 43 | Aug 29, 2018 |
| GABRG2 | 44 | Aug 29, 2018 |
| GAD1 | 3 | Aug 29, 2018 |
| GAL | 16 | Aug 29, 2018 |
| GALC | 29 | Aug 29, 2018 |
| GALE | 6 | Aug 29, 2018 |
| GALK1 | 8 | Aug 29, 2018 |
| GALNS | 32 | Aug 29, 2018 |
| GALNT12 | 60 | Mar 14, 2017 |
| GALT | 44 | Aug 29, 2018 |
| GAMT | 62 | Aug 29, 2018 |
| GAN | 66 | Aug 29, 2018 |
| GARS | 96 | Aug 29, 2018 |
| GAS8 | 38 | Aug 29, 2018 |
| GATA1 | 15 | Aug 29, 2018 |
| GATA2 | 165 | Aug 29, 2018 |
| GATA4 | 82 | Aug 29, 2018 |
| GATA6 | 48 | Aug 29, 2018 |
| GATAD1 | 19 | Aug 29, 2018 |
| GATM | 27 | Aug 29, 2018 |
| GBA2 | 38 | Aug 29, 2018 |
| GBE1 | 18 | Aug 29, 2018 |
| GCDH | 41 | Aug 29, 2018 |
| GCH1 | 27 | Aug 29, 2018 |
| GCNT2 | 6 | Aug 29, 2018 |
| GCSH | 14 | Aug 29, 2018 |
| GDAP1 | 64 | Aug 29, 2018 |
| GDF1 | 26 | Aug 29, 2018 |
| GDF2 | 15 | Aug 29, 2018 |
| GDF3 | 2 | Apr 2, 2018 |
| GDF6 | 3 | Apr 2, 2018 |
| GFI1 | 22 | Aug 29, 2018 |
| GFPT1 | 33 | Aug 29, 2018 |
| GJA1 | 16 | Aug 29, 2018 |
| GJA3 | 10 | Aug 29, 2018 |
| GJA5 | 11 | Aug 29, 2018 |
| GJA8 | 8 | Aug 29, 2018 |
| GJB1 | 98 | Aug 29, 2018 |
| GJB6 | 6 | Apr 2, 2018 |
| GJC2 | 16 | Aug 29, 2018 |
| GLA | 67 | Aug 29, 2018 |
| GLB1 | 11 | Aug 29, 2018 |
| GLDC | 132 | Aug 29, 2018 |
| GLI2 | 18 | Aug 29, 2018 |
| GLI3 | 61 | Aug 29, 2018 |
| GLIS2 | 20 | Aug 29, 2018 |
| GLRA1 | 60 | Aug 29, 2018 |
| GLRB | 7 | Aug 29, 2018 |
| GLUD1 | 5 | Aug 29, 2018 |
| GLUL | 1 | Apr 2, 2018 |
| GM2A | 1 | Apr 2, 2018 |
| GMPPA | 2 | Aug 29, 2018 |
| GMPPB | 44 | Aug 29, 2018 |
| GNAL | 12 | Aug 29, 2018 |
| GNAO1 | 36 | Aug 29, 2018 |
| GNB4 | 31 | Aug 29, 2018 |
| GNE | 54 | Aug 29, 2018 |
| GNPTAB | 9 | Aug 29, 2018 |
| GNS | 2 | Aug 29, 2018 |
| GOSR2 | 28 | Aug 29, 2018 |
| GPC3 | 144 | Aug 29, 2018 |
| GPD1L | 43 | Aug 29, 2018 |
| GPHN | 42 | Aug 29, 2018 |
| GREM1 | 5 | Aug 29, 2018 |
| GRHL3 | 4 | Oct 5, 2017 |
| GRIN1 | 56 | Aug 29, 2018 |
| GRIN2A | 146 | Aug 29, 2018 |
| GRIN2B | 115 | Aug 29, 2018 |
| GRN | 18 | Aug 29, 2018 |
| GSS | 1 | Aug 29, 2018 |
| GUCY2D | 14 | Aug 29, 2018 |
| GUSB | 10 | Aug 29, 2018 |
| GYG1 | 7 | Aug 29, 2018 |
| GYS1 | 6 | Aug 29, 2018 |
| GYS2 | 16 | Aug 29, 2018 |
| HADH | 2 | Apr 2, 2018 |
| HADHA | 13 | Aug 29, 2018 |
| HADHB | 13 | Aug 29, 2018 |
| HAMP | 9 | Apr 2, 2018 |
| HAND1 | 7 | Apr 2, 2018 |
| HARS | 43 | Aug 29, 2018 |
| HAX1 | 10 | Aug 29, 2018 |
| HCFC1 | 9 | Aug 29, 2018 |
| HCN1 | 83 | Aug 29, 2018 |
| HCN4 | 213 | Aug 29, 2018 |
| HDAC8 | 5 | Aug 29, 2018 |
| HESX1 | 2 | Apr 2, 2018 |
| HEXA | 20 | Aug 29, 2018 |
| HEXB | 13 | Aug 29, 2018 |
| HFE | 20 | Aug 29, 2018 |
| HGD | 2 | Aug 29, 2018 |
| HGSNAT | 14 | Aug 29, 2018 |
| HIBCH | 2 | Aug 29, 2018 |
| HINT1 | 10 | Aug 29, 2018 |
| HJV | 16 | Aug 29, 2018 |
| HLCS | 26 | Aug 29, 2018 |
| HMBS | 1 | Aug 29, 2018 |
| HMGCL | 8 | Aug 29, 2018 |
| HMGCS2 | 13 | Aug 29, 2018 |
| HNRNPA2B1 | 14 | Aug 29, 2018 |
| HNRNPDL | 32 | Aug 29, 2018 |
| HNRNPU | 86 | Aug 29, 2018 |
| HNRNPUL2-BSCL2 | 1 | Aug 29, 2018 |
| HOXB13 | 1 | Mar 14, 2017 |
| HPD | 16 | Aug 29, 2018 |
| HPRT1 | 5 | Aug 29, 2018 |
| HPS3 | 2 | Apr 2, 2018 |
| HRAS | 83 | Aug 29, 2018 |
| HSD17B4 | 7 | Aug 29, 2018 |
| HSF4 | 10 | Aug 29, 2018 |
| HSPB1 | 47 | Aug 29, 2018 |
| HSPB3 | 9 | Aug 29, 2018 |
| HSPB8 | 29 | Aug 29, 2018 |
| HSPD1 | 22 | Apr 2, 2018 |
| HYAL1 | 1 | Apr 2, 2018 |
| IBA57 | 11 | Aug 29, 2018 |
| ICOS | 9 | Aug 29, 2018 |
| IDH2 | 3 | Aug 29, 2018 |
| IDS | 17 | Aug 29, 2018 |
| IDUA | 29 | Aug 29, 2018 |
| IER3IP1 | 8 | Aug 29, 2018 |
| IFIH1 | 54 | Aug 29, 2018 |
| IFNGR1 | 20 | Aug 29, 2018 |
| IFNGR2 | 18 | Aug 29, 2018 |
| IFT122 | 14 | Aug 29, 2018 |
| IFT140 | 33 | Aug 29, 2018 |
| IFT172 | 18 | Aug 29, 2018 |
| IFT80 | 15 | Apr 2, 2018 |
| IGHMBP2 | 185 | Aug 29, 2018 |
| IGLL1 | 31 | Aug 29, 2018 |
| IKBKB | 23 | Aug 29, 2018 |
| IL10 | 3 | Aug 29, 2018 |
| IL10RA | 36 | Aug 29, 2018 |
| IL10RB | 13 | Aug 29, 2018 |
| IL12B | 19 | Aug 29, 2018 |
| IL12RB1 | 40 | Aug 29, 2018 |
| IL17F | 8 | Aug 29, 2018 |
| IL17RA | 56 | Aug 29, 2018 |
| IL17RC | 45 | Aug 29, 2018 |
| IL1RN | 15 | Aug 29, 2018 |
| IL21R | 26 | Aug 29, 2018 |
| IL2RA | 14 | Aug 29, 2018 |
| IL2RG | 25 | Aug 29, 2018 |
| IL36RN | 11 | Aug 29, 2018 |
| IL7R | 33 | Aug 29, 2018 |
| ILK | 20 | Aug 29, 2018 |
| INF2 | 143 | Aug 29, 2018 |
| INPP5E | 31 | Aug 29, 2018 |
| INS | 3 | Apr 2, 2018 |
| INVS | 46 | Aug 29, 2018 |
| IQCB1 | 12 | Aug 29, 2018 |
| IQSEC2 | 69 | Aug 29, 2018 |
| IRAK4 | 20 | Aug 29, 2018 |
| IRF6 | 24 | Aug 29, 2018 |
| IRF7 | 23 | Aug 29, 2018 |
| IRF8 | 28 | Aug 29, 2018 |
| ISG15 | 9 | Aug 29, 2018 |
| ITCH | 16 | Aug 29, 2018 |
| ITGA2B | 2 | Aug 29, 2018 |
| ITGA7 | 123 | Aug 29, 2018 |
| ITGB2 | 52 | Aug 29, 2018 |
| ITK | 20 | Aug 29, 2018 |
| ITPA | 39 | Aug 29, 2018 |
| IVD | 27 | Aug 29, 2018 |
| JAG1 | 77 | Aug 29, 2018 |
| JAGN1 | 11 | Aug 29, 2018 |
| JAK3 | 49 | Aug 29, 2018 |
| JMJD1C | 138 | Aug 29, 2018 |
| JPH2 | 80 | Aug 29, 2018 |
| JUP | 142 | Aug 29, 2018 |
| KANSL1 | 133 | Aug 29, 2018 |
| KAT6B | 6 | Aug 29, 2018 |
| KBTBD13 | 84 | Aug 29, 2018 |
| KCNA1 | 17 | Aug 29, 2018 |
| KCNA2 | 34 | Aug 29, 2018 |
| KCNA5 | 62 | Aug 29, 2018 |
| KCNB1 | 62 | Aug 29, 2018 |
| KCNC1 | 56 | Aug 29, 2018 |
| KCND2 | 27 | Aug 29, 2018 |
| KCND3 | 35 | Aug 29, 2018 |
| KCNE1 | 35 | Aug 29, 2018 |
| KCNE2 | 19 | Aug 29, 2018 |
| KCNE3 | 10 | Aug 29, 2018 |
| KCNE5 | 10 | Aug 29, 2018 |
| KCNH2 | 431 | Aug 29, 2018 |
| KCNH5 | 72 | Aug 29, 2018 |
| KCNJ10 | 38 | Aug 29, 2018 |
| KCNJ2 | 52 | Aug 29, 2018 |
| KCNJ5 | 31 | Aug 29, 2018 |
| KCNJ8 | 15 | Aug 29, 2018 |
| KCNK3 | 15 | Aug 29, 2018 |
| KCNMA1 | 69 | Aug 29, 2018 |
| KCNQ1 | 255 | Aug 29, 2018 |
| KCNQ2 | 180 | Aug 29, 2018 |
| KCNQ3 | 97 | Aug 29, 2018 |
| KCNT1 | 265 | Aug 29, 2018 |
| KCTD17 | 5 | Aug 29, 2018 |
| KCTD7 | 42 | Aug 29, 2018 |
| KDM5C | 12 | Aug 29, 2018 |
| KDM6A | 8 | Aug 29, 2018 |
| KIAA0586 | 38 | Aug 29, 2018 |
| KIF1A | 249 | Aug 29, 2018 |
| KIF1B | 85 | Aug 29, 2018 |
| KIF1C | 38 | Aug 29, 2018 |
| KIF5A | 31 | Aug 29, 2018 |
| KIF7 | 39 | Aug 29, 2018 |
| KIT | 547 | Aug 29, 2018 |
| KLHL40 | 65 | Aug 29, 2018 |
| KLHL41 | 28 | Aug 29, 2018 |
| KMT2D | 108 | Aug 29, 2018 |
| KPNA7 | 18 | Mar 14, 2017 |
| KPTN | 12 | Aug 29, 2018 |
| KRAS | 21 | Aug 29, 2018 |
| KRIT1 | 41 | Aug 29, 2018 |
| L1CAM | 48 | Aug 29, 2018 |
| L2HGDH | 8 | Aug 29, 2018 |
| LAMA2 | 342 | Aug 29, 2018 |
| LAMA4 | 155 | Aug 29, 2018 |
| LAMB2 | 81 | Aug 29, 2018 |
| LAMP2 | 62 | Aug 29, 2018 |
| LARGE1 | 69 | Aug 29, 2018 |
| LAS1L | 17 | Aug 29, 2018 |
| LCK | 13 | Aug 29, 2018 |
| LDB3 | 154 | Aug 29, 2018 |
| LDHA | 4 | Apr 2, 2018 |
| LDLR | 286 | Aug 29, 2018 |
| LDLRAP1 | 24 | Aug 29, 2018 |
| LEFTY2 | 21 | Aug 29, 2018 |
| LFNG | 4 | Apr 2, 2018 |
| LGI1 | 44 | Aug 29, 2018 |
| LIAS | 49 | Aug 29, 2018 |
| LIG4 | 34 | Aug 29, 2018 |
| LIM2 | 3 | Apr 2, 2018 |
| LIMS2 | 37 | Aug 29, 2018 |
| LIPA | 6 | Aug 29, 2018 |
| LITAF | 31 | Aug 29, 2018 |
| LMBRD1 | 7 | Aug 29, 2018 |
| LMNA | 235 | Aug 29, 2018 |
| LMNB2 | 59 | Aug 29, 2018 |
| LMOD3 | 70 | Aug 29, 2018 |
| LOC100507346 | 1 | Oct 5, 2017 |
| LPIN2 | 55 | Aug 29, 2018 |
| LRBA | 137 | Aug 29, 2018 |
| LRP4 | 80 | Aug 29, 2018 |
| LRRC10 | 27 | Aug 29, 2018 |
| LRRC6 | 33 | Aug 29, 2018 |
| LRRK2 | 44 | Aug 29, 2018 |
| LRSAM1 | 122 | Aug 29, 2018 |
| LTBP3 | 16 | Aug 29, 2018 |
| LYST | 145 | Aug 29, 2018 |
| MAF | 9 | Aug 29, 2018 |
| MAG | 20 | Aug 29, 2018 |
| MAGT1 | 9 | Aug 29, 2018 |
| MALT1 | 18 | Aug 29, 2018 |
| MAN1B1 | 12 | Aug 29, 2018 |
| MAN2B1 | 15 | Aug 29, 2018 |
| MANBA | 11 | Aug 29, 2018 |
| MAOA | 4 | Aug 29, 2018 |
| MAP2K1 | 27 | Aug 29, 2018 |
| MAP2K2 | 57 | Aug 29, 2018 |
| MAP3K1 | 15 | Aug 29, 2018 |
| MAP3K14 | 28 | Aug 29, 2018 |
| MAPT | 22 | Aug 29, 2018 |
| MARS | 60 | Aug 29, 2018 |
| MASP1 | 8 | Aug 29, 2018 |
| MAT1A | 22 | Aug 29, 2018 |
| MAT2A | 14 | Apr 2, 2018 |
| MATR3 | 30 | Aug 29, 2018 |
| MAX | 55 | Aug 29, 2018 |
| MBD5 | 136 | Aug 29, 2018 |
| MC1R | 83 | Aug 29, 2018 |
| MCCC1 | 49 | Aug 29, 2018 |
| MCCC2 | 39 | Aug 29, 2018 |
| MCEE | 3 | Apr 2, 2018 |
| MCIDAS | 24 | Aug 29, 2018 |
| MCOLN1 | 10 | Aug 29, 2018 |
| MDM2 | 4 | Apr 2, 2018 |
| MECP2 | 144 | Aug 29, 2018 |
| MED12 | 101 | Aug 29, 2018 |
| MED13L | 51 | Aug 29, 2018 |
| MED23 | 1 | Oct 5, 2017 |
| MED25 | 88 | Aug 29, 2018 |
| MEF2C | 20 | Aug 29, 2018 |
| MEFV | 72 | Aug 29, 2018 |
| MEGF10 | 91 | Aug 29, 2018 |
| MEGF8 | 60 | Aug 29, 2018 |
| MEIS2 | 5 | Aug 29, 2018 |
| MEN1 | 475 | Aug 29, 2018 |
| MET | 488 | Aug 29, 2018 |
| MFN2 | 152 | Aug 29, 2018 |
| MFRP | 6 | Aug 29, 2018 |
| MFSD8 | 60 | Aug 29, 2018 |
| MGAT2 | 5 | Aug 29, 2018 |
| MIP | 7 | Aug 29, 2018 |
| MITF | 1 | Aug 29, 2018 |
| MKKS | 11 | Aug 29, 2018 |
| MKS1 | 31 | Aug 29, 2018 |
| MLH1 | 1006 | Aug 29, 2018 |
| MLH3 | 155 | Aug 29, 2018 |
| MLYCD | 25 | Aug 29, 2018 |
| MMAA | 8 | Aug 29, 2018 |
| MMAB | 11 | Aug 29, 2018 |
| MMACHC | 24 | Aug 29, 2018 |
| MMADHC | 6 | Apr 2, 2018 |
| MMUT | 32 | Aug 29, 2018 |
| MOCOS | 8 | Aug 29, 2018 |
| MOCS1 | 6 | Aug 29, 2018 |
| MOGS | 41 | Aug 29, 2018 |
| MORC2 | 92 | Aug 29, 2018 |
| MPDU1 | 5 | Aug 29, 2018 |
| MPI | 9 | Aug 29, 2018 |
| MPL | 23 | Aug 29, 2018 |
| MPZ | 94 | Aug 29, 2018 |
| MRE11 | 275 | Aug 29, 2018 |
| MSH2 | 1340 | Aug 29, 2018 |
| MSH6 | 1923 | Aug 29, 2018 |
| MSX1 | 12 | Aug 29, 2018 |
| MSX2 | 4 | Aug 29, 2018 |
| MTHFR | 13 | Aug 29, 2018 |
| MTM1 | 34 | Aug 29, 2018 |
| MTMR2 | 68 | Aug 29, 2018 |
| MTO1 | 34 | Aug 29, 2018 |
| MTOR | 37 | Mar 14, 2017 |
| MTR | 21 | Aug 29, 2018 |
| MTRR | 13 | Aug 29, 2018 |
| MUSK | 70 | Aug 29, 2018 |
| MUTYH | 574 | Aug 29, 2018 |
| MVK | 31 | Aug 29, 2018 |
| MYBPC3 | 550 | Aug 29, 2018 |
| MYD88 | 12 | Aug 29, 2018 |
| MYF6 | 14 | Aug 29, 2018 |
| MYH11 | 341 | Aug 29, 2018 |
| MYH2 | 117 | Aug 29, 2018 |
| MYH6 | 328 | Aug 29, 2018 |
| MYH7 | 628 | Aug 29, 2018 |
| MYL2 | 65 | Aug 29, 2018 |
| MYL3 | 41 | Aug 29, 2018 |
| MYL4 | 18 | Aug 29, 2018 |
| MYLK | 290 | Aug 29, 2018 |
| MYLK2 | 58 | Aug 29, 2018 |
| MYOM1 | 221 | Aug 29, 2018 |
| MYOT | 43 | Aug 29, 2018 |
| MYOZ2 | 25 | Aug 29, 2018 |
| MYPN | 186 | Aug 29, 2018 |
| NADK2 | 5 | Aug 29, 2018 |
| NAGA | 6 | Aug 29, 2018 |
| NAGLU | 11 | Aug 29, 2018 |
| NAGS | 8 | Aug 29, 2018 |
| NBN | 727 | Aug 29, 2018 |
| NCF2 | 28 | Aug 29, 2018 |
| NCF4 | 25 | Aug 29, 2018 |
| NDE1 | 29 | Aug 29, 2018 |
| NDRG1 | 62 | Aug 29, 2018 |
| NEB | 771 | Aug 29, 2018 |
| NEBL | 124 | Aug 29, 2018 |
| NECAP1 | 11 | Aug 29, 2018 |
| NEDD4L | 21 | Mar 14, 2017 |
| NEFL | 71 | Aug 29, 2018 |
| NEK1 | 16 | Aug 29, 2018 |
| NEK8 | 19 | Aug 29, 2018 |
| NEXMIF | 68 | Aug 29, 2018 |
| NEXN | 66 | Aug 29, 2018 |
| NF1 | 2149 | Aug 29, 2018 |
| NF2 | 199 | Aug 29, 2018 |
| NFAT5 | 31 | Aug 29, 2018 |
| NFIX | 8 | Aug 29, 2018 |
| NFKB2 | 36 | Aug 29, 2018 |
| NFKBIA | 15 | Aug 29, 2018 |
| NFU1 | 3 | Apr 2, 2018 |
| NGF | 33 | Aug 29, 2018 |
| NGLY1 | 67 | Aug 29, 2018 |
| NHEJ1 | 10 | Aug 29, 2018 |
| NHLRC1 | 34 | Aug 29, 2018 |
| NHP2 | 17 | Aug 29, 2018 |
| NHS | 25 | Aug 29, 2018 |
| NIPA1 | 24 | Aug 29, 2018 |
| NIPBL | 50 | Aug 29, 2018 |
| NKX2-5 | 57 | Aug 29, 2018 |
| NKX2-6 | 15 | Aug 29, 2018 |
| NLRC4 | 35 | Aug 29, 2018 |
| NLRP12 | 85 | Aug 29, 2018 |
| NLRP3 | 50 | Aug 29, 2018 |
| NME8 | 44 | Aug 29, 2018 |
| NMNAT1 | 4 | Aug 29, 2018 |
| NOD2 | 84 | Aug 29, 2018 |
| NODAL | 14 | Aug 29, 2018 |
| NOP10 | 4 | Apr 2, 2018 |
| NOTCH1 | 510 | Aug 29, 2018 |
| NOTCH2 | 41 | Aug 29, 2018 |
| NPC1 | 52 | Aug 29, 2018 |
| NPC2 | 1 | Apr 2, 2018 |
| NPHP1 | 39 | Aug 29, 2018 |
| NPHP3 | 70 | Aug 29, 2018 |
| NPHP4 | 65 | Aug 29, 2018 |
| NPPA | 20 | Aug 29, 2018 |
| NPR2 | 9 | Aug 29, 2018 |
| NPRL3 | 69 | Aug 29, 2018 |
| NR0B1 | 5 | Aug 29, 2018 |
| NR2F2 | 4 | Apr 2, 2018 |
| NR5A1 | 7 | Aug 29, 2018 |
| NRAS | 13 | Aug 29, 2018 |
| NRXN1 | 152 | Aug 29, 2018 |
| NSD1 | 144 | Aug 29, 2018 |
| NT5C2 | 15 | Aug 29, 2018 |
| NTRK1 | 115 | Aug 29, 2018 |
| NUS1 | 4 | Aug 29, 2018 |
| OAT | 13 | Aug 29, 2018 |
| OCRL | 13 | Aug 29, 2018 |
| OFD1 | 62 | Aug 29, 2018 |
| OGDH | 1 | Oct 5, 2017 |
| OPA3 | 2 | Aug 29, 2018 |
| OPLAH | 5 | Aug 29, 2018 |
| OPTN | 11 | Aug 29, 2018 |
| ORAI1 | 15 | Aug 29, 2018 |
| OTC | 29 | Aug 29, 2018 |
| OTX2 | 5 | Aug 29, 2018 |
| OXCT1 | 2 | Aug 29, 2018 |
| P3H1 | 74 | Aug 29, 2018 |
| PACS1 | 7 | Oct 5, 2017 |
| PAH | 114 | Aug 29, 2018 |
| PALB2 | 1317 | Aug 29, 2018 |
| PALLD | 151 | Aug 29, 2018 |
| PANK2 | 24 | Aug 29, 2018 |
| PAPSS2 | 6 | Aug 29, 2018 |
| PARK7 | 7 | Aug 29, 2018 |
| PARN | 21 | Aug 29, 2018 |
| PAX2 | 5 | Aug 29, 2018 |
| PAX6 | 33 | Aug 29, 2018 |
| PAX9 | 7 | Aug 29, 2018 |
| PC | 9 | Aug 29, 2018 |
| PCBD1 | 1 | Apr 2, 2018 |
| PCCA | 22 | Aug 29, 2018 |
| PCCB | 22 | Aug 29, 2018 |
| PCDH19 | 107 | Aug 29, 2018 |
| PCSK9 | 69 | Aug 29, 2018 |
| PDCD10 | 10 | Aug 29, 2018 |
| PDE6D | 1 | Apr 2, 2018 |
| PDGFRA | 621 | Aug 29, 2018 |
| PDGFRB | 23 | Aug 29, 2018 |
| PDHA1 | 6 | Aug 29, 2018 |
| PDHB | 3 | Aug 29, 2018 |
| PDK3 | 19 | Aug 29, 2018 |
| PDLIM3 | 51 | Aug 29, 2018 |
| PEX1 | 14 | Aug 29, 2018 |
| PEX10 | 3 | Apr 2, 2018 |
| PEX12 | 3 | Aug 29, 2018 |
| PEX13 | 7 | Aug 29, 2018 |
| PEX14 | 4 | Aug 29, 2018 |
| PEX16 | 1 | Oct 5, 2017 |
| PEX19 | 3 | Aug 29, 2018 |
| PEX2 | 2 | Aug 29, 2018 |
| PEX26 | 2 | Aug 29, 2018 |
| PEX5 | 3 | Aug 29, 2018 |
| PEX6 | 10 | Aug 29, 2018 |
| PEX7 | 4 | Aug 29, 2018 |
| PFKM | 7 | Aug 29, 2018 |
| PGAM2 | 5 | Aug 29, 2018 |
| PGAP1 | 15 | Aug 29, 2018 |
| PGM1 | 12 | Aug 29, 2018 |
| PGM3 | 18 | Aug 29, 2018 |
| PHF6 | 4 | Apr 2, 2018 |
| PHGDH | 6 | Aug 29, 2018 |
| PHKA1 | 5 | Aug 29, 2018 |
| PHKA2 | 24 | Aug 29, 2018 |
| PHKB | 17 | Aug 29, 2018 |
| PHKG2 | 14 | Aug 29, 2018 |
| PHOX2B | 127 | Aug 29, 2018 |
| PIGA | 24 | Aug 29, 2018 |
| PIGG | 112 | Aug 29, 2018 |
| PIGM | 1 | Oct 5, 2017 |
| PIGN | 91 | Aug 29, 2018 |
| PIGO | 100 | Aug 29, 2018 |
| PIGQ | 78 | Aug 29, 2018 |
| PIGT | 8 | Aug 29, 2018 |
| PIGW | 6 | Aug 29, 2018 |
| PIK3AP1 | 57 | Aug 29, 2018 |
| PIK3CA | 114 | Aug 29, 2018 |
| PIK3CD | 42 | Aug 29, 2018 |
| PIK3R1 | 23 | Aug 29, 2018 |
| PIK3R2 | 15 | Apr 2, 2018 |
| PINK1 | 8 | Aug 29, 2018 |
| PITX2 | 5 | Apr 2, 2018 |
| PITX3 | 4 | Aug 29, 2018 |
| PKD2 | 40 | Aug 29, 2018 |
| PKHD1 | 181 | Aug 29, 2018 |
| PKP2 | 257 | Aug 29, 2018 |
| PLA2G6 | 24 | Aug 29, 2018 |
| PLCB1 | 95 | Aug 29, 2018 |
| PLCG2 | 93 | Aug 29, 2018 |
| PLEC | 844 | Aug 29, 2018 |
| PLEKHG5 | 160 | Aug 29, 2018 |
| PLEKHM2 | 86 | Aug 29, 2018 |
| PLN | 17 | Aug 29, 2018 |
| PLOD1 | 118 | Aug 29, 2018 |
| PLP1 | 16 | Aug 29, 2018 |
| PMM2 | 17 | Aug 29, 2018 |
| PMP22 | 49 | Aug 29, 2018 |
| PMS2 | 1121 | Aug 29, 2018 |
| PNKD | 60 | Aug 29, 2018 |
| PNKP | 119 | Aug 29, 2018 |
| PNP | 16 | Aug 29, 2018 |
| PNPLA2 | 70 | Aug 29, 2018 |
| PNPLA6 | 64 | Aug 29, 2018 |
| PNPO | 22 | Aug 29, 2018 |
| POFUT1 | 5 | Aug 29, 2018 |
| POLD1 | 1161 | Aug 29, 2018 |
| POLE | 1981 | Aug 29, 2018 |
| POLG | 233 | Aug 29, 2018 |
| POMGNT1 | 56 | Aug 29, 2018 |
| POMGNT2 | 65 | Aug 29, 2018 |
| POMK | 35 | Aug 29, 2018 |
| POMT1 | 95 | Aug 29, 2018 |
| POMT2 | 86 | Aug 29, 2018 |
| POR | 6 | Aug 29, 2018 |
| POT1 | 225 | Aug 29, 2018 |
| PPM1K | 4 | Aug 29, 2018 |
| PPT1 | 48 | Aug 29, 2018 |
| PRDM12 | 28 | Aug 29, 2018 |
| PRDM16 | 183 | Aug 29, 2018 |
| PRDM8 | 50 | Aug 29, 2018 |
| PREPL | 42 | Aug 29, 2018 |
| PRF1 | 52 | Aug 29, 2018 |
| PRICKLE1 | 83 | Aug 29, 2018 |
| PRICKLE2 | 36 | Aug 29, 2018 |
| PRIMA1 | 10 | Aug 29, 2018 |
| PRKAG2 | 110 | Aug 29, 2018 |
| PRKAR1A | 103 | Aug 29, 2018 |
| PRKCD | 22 | Aug 29, 2018 |
| PRKDC | 156 | Aug 29, 2018 |
| PRKG1 | 57 | Aug 29, 2018 |
| PRKN | 58 | Aug 29, 2018 |
| PRKRA | 10 | Aug 29, 2018 |
| PRNP | 11 | Aug 29, 2018 |
| PROC | 36 | Aug 29, 2018 |
| PRODH | 23 | Aug 29, 2018 |
| PROS1 | 33 | Aug 29, 2018 |
| PRPH2 | 1 | Oct 5, 2017 |
| PRPS1 | 11 | Aug 29, 2018 |
| PRRT2 | 62 | Aug 29, 2018 |
| PRSS1 | 49 | Aug 29, 2018 |
| PRSS56 | 3 | Apr 2, 2018 |
| PRX | 224 | Aug 29, 2018 |
| PSAP | 4 | Aug 29, 2018 |
| PSAT1 | 5 | Aug 29, 2018 |
| PSEN1 | 17 | Aug 29, 2018 |
| PSEN2 | 11 | Aug 29, 2018 |
| PSMB8 | 20 | Aug 29, 2018 |
| PSPH | 1 | Apr 2, 2018 |
| PSTPIP1 | 44 | Aug 29, 2018 |
| PTCH1 | 877 | Aug 29, 2018 |
| PTCH2 | 105 | Aug 29, 2018 |
| PTEN | 410 | Aug 29, 2018 |
| PTPN11 | 90 | Aug 29, 2018 |
| PTPRC | 65 | Aug 29, 2018 |
| PTS | 11 | Aug 29, 2018 |
| PURA | 34 | Aug 29, 2018 |
| PXDN | 19 | Aug 29, 2018 |
| PYGL | 18 | Aug 29, 2018 |
| PYGM | 31 | Aug 29, 2018 |
| QARS | 110 | Aug 29, 2018 |
| QDPR | 8 | Aug 29, 2018 |
| RAB23 | 6 | Aug 29, 2018 |
| RAB27A | 18 | Aug 29, 2018 |
| RAB3GAP2 | 23 | Aug 29, 2018 |
| RAB7A | 12 | Aug 29, 2018 |
| RAC2 | 4 | Aug 29, 2018 |
| RAD21 | 6 | Aug 29, 2018 |
| RAD50 | 991 | Aug 29, 2018 |
| RAD51C | 414 | Aug 29, 2018 |
| RAD51D | 329 | Aug 29, 2018 |
| RAF1 | 80 | Aug 29, 2018 |
| RAG1 | 40 | Aug 29, 2018 |
| RAG2 | 21 | Aug 29, 2018 |
| RANBP2 | 167 | Aug 29, 2018 |
| RANGRF | 11 | Apr 2, 2018 |
| RAPSN | 39 | Aug 29, 2018 |
| RARB | 5 | Aug 29, 2018 |
| RASA1 | 73 | Aug 29, 2018 |
| RAX | 1 | Oct 5, 2017 |
| RB1 | 368 | Aug 29, 2018 |
| RBCK1 | 22 | Aug 29, 2018 |
| RBFOX1 | 49 | Aug 29, 2018 |
| RBFOX3 | 30 | Aug 29, 2018 |
| RBM20 | 243 | Aug 29, 2018 |
| RBM8A | 3 | Aug 29, 2018 |
| RD3 | 2 | Oct 5, 2017 |
| RDH12 | 2 | Aug 29, 2018 |
| RECQL4 | 998 | Aug 29, 2018 |
| REEP1 | 42 | Aug 29, 2018 |
| REEP2 | 1 | Oct 5, 2017 |
| RELN | 263 | Aug 29, 2018 |
| RET | 577 | Aug 29, 2018 |
| RETREG1 | 50 | Aug 29, 2018 |
| RFT1 | 3 | Aug 29, 2018 |
| RFX5 | 20 | Aug 29, 2018 |
| RFXANK | 18 | Aug 29, 2018 |
| RFXAP | 20 | Aug 29, 2018 |
| RHOH | 6 | Aug 29, 2018 |
| RINT1 | 97 | Mar 14, 2017 |
| RIT1 | 21 | Aug 29, 2018 |
| RMRP | 49 | Aug 29, 2018 |
| RNASEH2A | 15 | Aug 29, 2018 |
| RNASEH2B | 17 | Aug 29, 2018 |
| RNASEH2C | 7 | Aug 29, 2018 |
| RNF125 | 5 | Aug 29, 2018 |
| ROGDI | 76 | Aug 29, 2018 |
| RORC | 11 | Aug 29, 2018 |
| RPE65 | 11 | Aug 29, 2018 |
| RPGR | 42 | Apr 2, 2018 |
| RPGRIP1 | 12 | Aug 29, 2018 |
| RPGRIP1L | 42 | Aug 29, 2018 |
| RPL11 | 12 | Aug 29, 2018 |
| RPL26 | 4 | Oct 5, 2017 |
| RPL35A | 6 | Aug 29, 2018 |
| RPL36A-HNRNPH2 | 2 | Aug 29, 2018 |
| RPL5 | 20 | Aug 29, 2018 |
| RPN2 | 5 | Aug 29, 2018 |
| RPS10 | 7 | Aug 29, 2018 |
| RPS19 | 12 | Aug 29, 2018 |
| RPS24 | 9 | Aug 29, 2018 |
| RPS26 | 3 | Apr 2, 2018 |
| RPS6KA3 | 6 | Aug 29, 2018 |
| RPS7 | 6 | Aug 29, 2018 |
| RRAS | 29 | Aug 29, 2018 |
| RSPH1 | 55 | Aug 29, 2018 |
| RSPH3 | 46 | Aug 29, 2018 |
| RSPH4A | 54 | Aug 29, 2018 |
| RSPH9 | 18 | Aug 29, 2018 |
| RTEL1 | 119 | Aug 29, 2018 |
| RTN2 | 20 | Aug 29, 2018 |
| RUNX1 | 176 | Aug 29, 2018 |
| RXYLT1 | 38 | Aug 29, 2018 |
| RYR1 | 749 | Aug 29, 2018 |
| RYR2 | 706 | Aug 29, 2018 |
| RYR3 | 382 | Aug 29, 2018 |
| SACS | 135 | Aug 29, 2018 |
| SALL1 | 23 | Aug 29, 2018 |
| SALL4 | 9 | Aug 29, 2018 |
| SAMHD1 | 18 | Aug 29, 2018 |
| SATB2 | 55 | Aug 29, 2018 |
| SBF2 | 187 | Aug 29, 2018 |
| SCARB2 | 57 | Aug 29, 2018 |
| SCN10A | 220 | Aug 29, 2018 |
| SCN11A | 181 | Aug 29, 2018 |
| SCN1A | 348 | Aug 29, 2018 |
| SCN1B | 73 | Aug 29, 2018 |
| SCN2A | 162 | Aug 29, 2018 |
| SCN2B | 14 | Aug 29, 2018 |
| SCN3A | 41 | Mar 14, 2017 |
| SCN3B | 9 | Aug 29, 2018 |
| SCN4A | 221 | Aug 29, 2018 |
| SCN4B | 13 | Aug 29, 2018 |
| SCN5A | 616 | Aug 29, 2018 |
| SCN8A | 140 | Aug 29, 2018 |
| SCN9A | 373 | Aug 29, 2018 |
| SDCCAG8 | 11 | Aug 29, 2018 |
| SDHA | 546 | Aug 29, 2018 |
| SDHAF2 | 66 | Aug 29, 2018 |
| SDHB | 271 | Aug 29, 2018 |
| SDHC | 138 | Aug 29, 2018 |
| SDHD | 148 | Aug 29, 2018 |
| SEC23A | 2 | Aug 29, 2018 |
| SEC23B | 13 | Aug 29, 2018 |
| SELENON | 59 | Aug 29, 2018 |
| SEMA3E | 26 | Aug 29, 2018 |
| SERAC1 | 3 | Aug 29, 2018 |
| SERPINA1 | 13 | Aug 29, 2018 |
| SERPINC1 | 27 | Aug 29, 2018 |
| SERPINI1 | 36 | Aug 29, 2018 |
| SETD2 | 129 | Aug 29, 2018 |
| SETX | 143 | Aug 29, 2018 |
| SGCA | 45 | Aug 29, 2018 |
| SGCB | 39 | Aug 29, 2018 |
| SGCD | 54 | Aug 29, 2018 |
| SGCE | 66 | Aug 29, 2018 |
| SGCG | 32 | Aug 29, 2018 |
| SGSH | 15 | Aug 29, 2018 |
| SH2D1A | 5 | Aug 29, 2018 |
| SH3BP2 | 40 | Aug 29, 2018 |
| SH3TC2 | 198 | Aug 29, 2018 |
| SHH | 7 | Aug 29, 2018 |
| SHOC2 | 25 | Aug 29, 2018 |
| SIGMAR1 | 23 | Aug 29, 2018 |
| SIK1 | 87 | Aug 29, 2018 |
| SIL1 | 8 | Apr 2, 2018 |
| SIX1 | 3 | Aug 29, 2018 |
| SIX3 | 6 | Aug 29, 2018 |
| SKI | 122 | Aug 29, 2018 |
| SLC12A5 | 62 | Aug 29, 2018 |
| SLC13A5 | 59 | Aug 29, 2018 |
| SLC16A2 | 15 | Aug 29, 2018 |
| SLC17A5 | 5 | Aug 29, 2018 |
| SLC19A3 | 51 | Aug 29, 2018 |
| SLC22A5 | 122 | Aug 29, 2018 |
| SLC25A12 | 11 | Mar 14, 2017 |
| SLC25A13 | 11 | Aug 29, 2018 |
| SLC25A15 | 6 | Aug 29, 2018 |
| SLC25A20 | 8 | Aug 29, 2018 |
| SLC25A22 | 56 | Aug 29, 2018 |
| SLC25A46 | 42 | Aug 29, 2018 |
| SLC26A2 | 9 | Aug 29, 2018 |
| SLC29A3 | 38 | Aug 29, 2018 |
| SLC2A1 | 100 | Aug 29, 2018 |
| SLC2A10 | 79 | Aug 29, 2018 |
| SLC2A2 | 11 | Aug 29, 2018 |
| SLC33A1 | 11 | Aug 29, 2018 |
| SLC35A1 | 3 | Aug 29, 2018 |
| SLC35A2 | 25 | Aug 29, 2018 |
| SLC35A3 | 22 | Aug 29, 2018 |
| SLC35C1 | 17 | Aug 29, 2018 |
| SLC35D1 | 1 | Aug 29, 2018 |
| SLC37A4 | 32 | Aug 29, 2018 |
| SLC39A13 | 14 | Aug 29, 2018 |
| SLC3A1 | 5 | Aug 29, 2018 |
| SLC40A1 | 16 | Aug 29, 2018 |
| SLC52A1 | 4 | Aug 29, 2018 |
| SLC52A2 | 70 | Aug 29, 2018 |
| SLC52A3 | 60 | Aug 29, 2018 |
| SLC5A1 | 1 | Apr 2, 2018 |
| SLC5A7 | 47 | Aug 29, 2018 |
| SLC6A1 | 70 | Aug 29, 2018 |
| SLC6A3 | 37 | Aug 29, 2018 |
| SLC6A5 | 11 | Aug 29, 2018 |
| SLC6A8 | 72 | Aug 29, 2018 |
| SLC6A9 | 3 | Aug 29, 2018 |
| SLC7A7 | 28 | Aug 29, 2018 |
| SLC9A6 | 29 | Aug 29, 2018 |
| SLMAP | 29 | Aug 29, 2018 |
| SLX4 | 297 | Aug 29, 2018 |
| SMAD3 | 101 | Aug 29, 2018 |
| SMAD4 | 294 | Aug 29, 2018 |
| SMAD6 | 76 | Aug 29, 2018 |
| SMAD9 | 5 | Apr 2, 2018 |
| SMARCA4 | 1154 | Aug 29, 2018 |
| SMARCAL1 | 37 | Aug 29, 2018 |
| SMARCB1 | 117 | Aug 29, 2018 |
| SMARCE1 | 104 | Aug 29, 2018 |
| SMC1A | 43 | Aug 29, 2018 |
| SMC3 | 10 | Aug 29, 2018 |
| SMCHD1 | 41 | Aug 29, 2018 |
| SMN1 | 4 | Aug 29, 2018 |
| SMN2 | 1 | Apr 2, 2018 |
| SMPD1 | 26 | Aug 29, 2018 |
| SNAP25 | 9 | Aug 29, 2018 |
| SNCA | 3 | Aug 29, 2018 |
| SNTA1 | 58 | Aug 29, 2018 |
| SNX27 | 45 | Aug 29, 2018 |
| SOD1 | 18 | Aug 29, 2018 |
| SOS1 | 107 | Aug 29, 2018 |
| SOS2 | 69 | Aug 29, 2018 |
| SOX2 | 11 | Aug 29, 2018 |
| SOX9 | 6 | Apr 2, 2018 |
| SP110 | 26 | Aug 29, 2018 |
| SPAG1 | 77 | Aug 29, 2018 |
| SPART | 25 | Aug 29, 2018 |
| SPAST | 126 | Aug 29, 2018 |
| SPATA5 | 68 | Aug 29, 2018 |
| SPATA7 | 2 | Apr 2, 2018 |
| SPG11 | 378 | Aug 29, 2018 |
| SPG21 | 10 | Aug 29, 2018 |
| SPG7 | 76 | Aug 29, 2018 |
| SPINK1 | 29 | Aug 29, 2018 |
| SPINK5 | 59 | Aug 29, 2018 |
| SPR | 15 | Aug 29, 2018 |
| SPRED1 | 75 | Aug 29, 2018 |
| SPTAN1 | 208 | Aug 29, 2018 |
| SPTLC1 | 44 | Aug 29, 2018 |
| SPTLC2 | 53 | Aug 29, 2018 |
| SQSTM1 | 47 | Aug 29, 2018 |
| SRD5A2 | 25 | Aug 29, 2018 |
| SRD5A3 | 3 | Aug 29, 2018 |
| SRPX2 | 30 | Aug 29, 2018 |
| SRY | 5 | Aug 29, 2018 |
| SSUH2 | 1 | Aug 29, 2018 |
| ST3GAL3 | 28 | Aug 29, 2018 |
| ST3GAL5 | 33 | Aug 29, 2018 |
| STAC3 | 24 | Aug 29, 2018 |
| STAT1 | 30 | Aug 29, 2018 |
| STAT2 | 28 | Aug 29, 2018 |
| STAT3 | 26 | Aug 29, 2018 |
| STAT5B | 24 | Aug 29, 2018 |
| STIM1 | 69 | Aug 29, 2018 |
| STK11 | 552 | Aug 29, 2018 |
| STK4 | 14 | Aug 29, 2018 |
| STRA6 | 12 | Aug 29, 2018 |
| STRADA | 41 | Aug 29, 2018 |
| STT3B | 2 | Apr 2, 2018 |
| STX11 | 14 | Aug 29, 2018 |
| STX1B | 22 | Aug 29, 2018 |
| STXBP1 | 79 | Aug 29, 2018 |
| STXBP2 | 49 | Aug 29, 2018 |
| SUCLA2 | 6 | Aug 29, 2018 |
| SUCLG1 | 5 | Aug 29, 2018 |
| SUFU | 164 | Aug 29, 2018 |
| SUMF1 | 2 | Aug 29, 2018 |
| SUN1 | 67 | Aug 29, 2018 |
| SUN2 | 49 | Aug 29, 2018 |
| SUOX | 6 | Aug 29, 2018 |
| SURF1 | 32 | Aug 29, 2018 |
| SYN1 | 45 | Aug 29, 2018 |
| SYNE1 | 459 | Aug 29, 2018 |
| SYNE2 | 376 | Aug 29, 2018 |
| SYNGAP1 | 127 | Aug 29, 2018 |
| SYNJ1 | 133 | Aug 29, 2018 |
| SZT2 | 82 | Mar 14, 2017 |
| TAP1 | 49 | Aug 29, 2018 |
| TAP2 | 39 | Aug 29, 2018 |
| TAPBP | 18 | Aug 29, 2018 |
| TARDBP | 8 | Aug 29, 2018 |
| TAT | 1 | Oct 5, 2017 |
| TAZ | 29 | Aug 29, 2018 |
| TBC1D24 | 98 | Aug 29, 2018 |
| TBK1 | 29 | Aug 29, 2018 |
| TBL1XR1 | 17 | Aug 29, 2018 |
| TBX1 | 25 | Aug 29, 2018 |
| TBX3 | 3 | Aug 29, 2018 |
| TBX5 | 35 | Aug 29, 2018 |
| TCAP | 45 | Aug 29, 2018 |
| TCF4 | 63 | Aug 29, 2018 |
| TCN1 | 3 | Aug 29, 2018 |
| TCN2 | 34 | Aug 29, 2018 |
| TCOF1 | 43 | Aug 29, 2018 |
| TCTN1 | 20 | Aug 29, 2018 |
| TCTN2 | 24 | Aug 29, 2018 |
| TCTN3 | 8 | Aug 29, 2018 |
| TDRD7 | 8 | Apr 2, 2018 |
| TECPR2 | 53 | Aug 29, 2018 |
| TERC | 40 | Aug 29, 2018 |
| TERT | 431 | Aug 29, 2018 |
| TFG | 39 | Aug 29, 2018 |
| TFR2 | 43 | Aug 29, 2018 |
| TGFB2 | 57 | Aug 29, 2018 |
| TGFB3 | 87 | Aug 29, 2018 |
| TGFBR1 | 80 | Aug 29, 2018 |
| TGFBR2 | 102 | Aug 29, 2018 |
| TGIF1 | 4 | Apr 2, 2018 |
| TH | 56 | Aug 29, 2018 |
| THAP1 | 16 | Aug 29, 2018 |
| TIA1 | 19 | Aug 29, 2018 |
| TICAM1 | 38 | Aug 29, 2018 |
| TINF2 | 28 | Aug 29, 2018 |
| TLR3 | 31 | Aug 29, 2018 |
| TMC6 | 53 | Aug 29, 2018 |
| TMC8 | 39 | Aug 29, 2018 |
| TMEM127 | 113 | Aug 29, 2018 |
| TMEM138 | 4 | Aug 29, 2018 |
| TMEM165 | 1 | Aug 29, 2018 |
| TMEM173 | 19 | Aug 29, 2018 |
| TMEM216 | 6 | Aug 29, 2018 |
| TMEM231 | 20 | Aug 29, 2018 |
| TMEM237 | 6 | Aug 29, 2018 |
| TMEM43 | 99 | Aug 29, 2018 |
| TMEM67 | 30 | Aug 29, 2018 |
| TMEM70 | 20 | Aug 29, 2018 |
| TMPO | 63 | Aug 29, 2018 |
| TNFRSF13B | 37 | Aug 29, 2018 |
| TNFRSF13C | 16 | Aug 29, 2018 |
| TNFRSF1A | 22 | Aug 29, 2018 |
| TNFRSF4 | 13 | Aug 29, 2018 |
| TNFSF12 | 11 | Aug 29, 2018 |
| TNNC1 | 45 | Aug 29, 2018 |
| TNNI3 | 89 | Aug 29, 2018 |
| TNNT1 | 26 | Aug 29, 2018 |
| TNNT2 | 125 | Aug 29, 2018 |
| TNPO3 | 34 | Aug 29, 2018 |
| TOR1A | 4 | Aug 29, 2018 |
| TOR1AIP1 | 33 | Aug 29, 2018 |
| TP53 | 639 | Aug 29, 2018 |
| TP63 | 17 | Aug 29, 2018 |
| TPK1 | 12 | Aug 29, 2018 |
| TPM1 | 71 | Aug 29, 2018 |
| TPM2 | 22 | Aug 29, 2018 |
| TPM3 | 16 | Aug 29, 2018 |
| TPP1 | 97 | Aug 29, 2018 |
| TPP2 | 33 | Aug 29, 2018 |
| TRAF3 | 19 | Aug 29, 2018 |
| TRAF3IP2 | 23 | Aug 29, 2018 |
| TRAPPC11 | 81 | Aug 29, 2018 |
| TRDN | 121 | Aug 29, 2018 |
| TREX1 | 18 | Aug 29, 2018 |
| TRIM2 | 44 | Aug 29, 2018 |
| TRIM32 | 47 | Aug 29, 2018 |
| TRIP11 | 20 | Aug 29, 2018 |
| TRNT1 | 11 | Aug 29, 2018 |
| TRPM4 | 99 | Aug 29, 2018 |
| TRPS1 | 18 | Aug 29, 2018 |
| TRPV4 | 150 | Aug 29, 2018 |
| TSC1 | 771 | Aug 29, 2018 |
| TSC2 | 2019 | Aug 29, 2018 |
| TTC21B | 43 | Aug 29, 2018 |
| TTC7A | 55 | Aug 29, 2018 |
| TTC8 | 15 | Aug 29, 2018 |
| TTN | 5334 | Aug 29, 2018 |
| TTN-AS1 | 2 | Apr 2, 2018 |
| TTR | 48 | Aug 29, 2018 |
| TUBB4A | 12 | Aug 29, 2018 |
| TUSC3 | 2 | Apr 2, 2018 |
| TWIST1 | 24 | Aug 29, 2018 |
| TXNRD2 | 76 | Aug 29, 2018 |
| TYK2 | 62 | Aug 29, 2018 |
| UBA1 | 39 | Aug 29, 2018 |
| UBE3A | 53 | Aug 29, 2018 |
| UBQLN2 | 4 | Aug 29, 2018 |
| UMPS | 3 | Apr 2, 2018 |
| UNC13D | 77 | Aug 29, 2018 |
| UNC93B1 | 33 | Aug 29, 2018 |
| UNG | 12 | Aug 29, 2018 |
| UPF3B | 3 | Aug 29, 2018 |
| USP8 | 19 | Aug 29, 2018 |
| VAMP1 | 2 | Apr 2, 2018 |
| VANGL1 | 2 | Apr 2, 2018 |
| VAPB | 21 | Aug 29, 2018 |
| VAX1 | 3 | Oct 5, 2017 |
| VCL | 166 | Aug 29, 2018 |
| VCP | 44 | Aug 29, 2018 |
| VHL | 298 | Aug 29, 2018 |
| VIM | 3 | Aug 29, 2018 |
| VMA21 | 9 | Aug 29, 2018 |
| VPS13B | 166 | Aug 29, 2018 |
| VPS35 | 6 | Aug 29, 2018 |
| VPS37A | 12 | Aug 29, 2018 |
| VPS45 | 14 | Aug 29, 2018 |
| VRK1 | 34 | Aug 29, 2018 |
| VSX2 | 11 | Aug 29, 2018 |
| WAS | 27 | Aug 29, 2018 |
| WASHC5 | 48 | Aug 29, 2018 |
| WDPCP | 18 | Aug 29, 2018 |
| WDR19 | 17 | Aug 29, 2018 |
| WDR34 | 13 | Aug 29, 2018 |
| WDR35 | 19 | Aug 29, 2018 |
| WDR45 | 24 | Aug 29, 2018 |
| WDR60 | 22 | Aug 29, 2018 |
| WIPF1 | 15 | Aug 29, 2018 |
| WNK1 | 176 | Aug 29, 2018 |
| WNT10A | 26 | Aug 29, 2018 |
| WRN | 615 | Aug 29, 2018 |
| WT1 | 203 | Aug 29, 2018 |
| WWOX | 156 | Aug 29, 2018 |
| XDH | 12 | Aug 29, 2018 |
| XIAP | 16 | Aug 29, 2018 |
| XPNPEP3 | 10 | Aug 29, 2018 |
| XRCC2 | 28 | Mar 14, 2017 |
| XYLT1 | 8 | Aug 29, 2018 |
| YARS | 48 | Aug 29, 2018 |
| ZAP70 | 28 | Aug 29, 2018 |
| ZBTB24 | 29 | Aug 29, 2018 |
| ZDHHC9 | 20 | Aug 29, 2018 |
| ZEB2 | 119 | Aug 29, 2018 |
| ZFPM2 | 34 | Aug 29, 2018 |
| ZFR | 4 | Aug 29, 2018 |
| ZFYVE26 | 121 | Aug 29, 2018 |
| ZFYVE27 | 18 | Aug 29, 2018 |
| ZIC2 | 5 | Aug 29, 2018 |
| ZIC3 | 18 | Aug 29, 2018 |
| ZMYND10 | 31 | Aug 29, 2018 |
| ZNF423 | 44 | Aug 29, 2018 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 2,4-Dienoyl-CoA reductase deficiency | 1 test |
| 2-methyl-3-hydroxybutyric aciduria | 4 tests |
| 3 Methylcrotonyl-CoA carboxylase 1 deficiency | 5 tests |
| 3-Methylglutaconic aciduria type 1 | 5 tests |
| 3-Methylglutaconic aciduria type 2 | 8 tests |
| 3-Methylglutaconic aciduria type 3 | 4 tests |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2 tests |
| 3-methylcrotonyl CoA carboxylase 2 deficiency | 5 tests |
| 3-methylglutaconic aciduria type V | 4 tests |
| 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 4 tests |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 4 tests |
| 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency | 3 tests |
| 4-Hydroxyphenylpyruvate dioxygenase deficiency | 3 tests |
| 46,XX sex reversal, type 1 | 1 test |
| 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy | 1 test |
| 46,XY sex reversal, type 1 | 1 test |
| 46,XY sex reversal, type 2 | 1 test |
| 46,XY sex reversal, type 3 | 1 test |
| 46,XY sex reversal, type 6 | 1 test |
| 46,XY sex reversal, type 7 | 1 test |
| 5-Oxoprolinase deficiency | 1 test |
| 6-pyruvoyl-tetrahydropterin synthase deficiency | 5 tests |
| ADULT syndrome | 1 test |
| ALG12-congenital disorder of glycosylation | 1 test |
| ALG9 congenital disorder of glycosylation | 1 test |
| ANO5-Related Muscle Diseases | 4 tests |
| ATR-X syndrome | 3 tests |
| Aase syndrome | 2 tests |
| Achondrogenesis, type IA | 1 test |
| Achondroplasia | 1 test |
| Acrocallosal syndrome, Schinzel type | 2 tests |
| Acrocephalosyndactyly type I | 1 test |
| Acromesomelic dysplasia Maroteaux type | 1 test |
| Acute intermittent porphyria | 1 test |
| Acute lymphoid leukemia | 4 tests |
| Acute myeloid leukemia | 4 tests |
| Adams-Oliver syndrome | 2 tests |
| Adams-Oliver syndrome 5 | 2 tests |
| Adenylosuccinate lyase deficiency | 3 tests |
| Adolescent nephronophthisis | 4 tests |
| Adrenocortical carcinoma, hereditary | 1 test |
| Adrenoleukodystrophy | 4 tests |
| Adult neuronal ceroid lipofuscinosis | 3 tests |
| Adult proximal spinal muscular atrophy, autosomal dominant | 3 tests |
| Agammaglobulinemia | 1 test |
| Agammaglobulinemia 2, autosomal recessive | 2 tests |
| Agammaglobulinemia 3, autosomal recessive | 2 tests |
| Agammaglobulinemia 4, autosomal recessive | 2 tests |
| Agammaglobulinemia 6, autosomal recessive | 2 tests |
| Agammaglobulinemia 7, autosomal recessive | 5 tests |
| Aicardi Goutieres syndrome | 3 tests |
| Aicardi Goutieres syndrome 1 | 2 tests |
| Aicardi Goutieres syndrome 2 | 2 tests |
| Aicardi Goutieres syndrome 3 | 2 tests |
| Aicardi Goutieres syndrome 4 | 2 tests |
| Aicardi Goutieres syndrome 5 | 3 tests |
| Aicardi-Goutieres syndrome 6 | 3 tests |
| Aicardi-Goutieres syndrome 7 | 2 tests |
| Alacrima, achalasia, and mental retardation syndrome | 1 test |
| Alagille syndrome 1 | 3 tests |
| Alagille syndrome 2 | 2 tests |
| Alkaptonuria | 1 test |
| Allan-Herndon-Dudley syndrome | 2 tests |
| Alpha thalassemia-mental retardation syndrome | 3 tests |
| Alpha-B crystallinopathy | 4 tests |
| Alpha-ketoglutarate dehydrogenase deficiency | 1 test |
| Alpha-methylacyl-CoA racemase deficiency | 1 test |
| Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | 5 tests |
| Alstrom syndrome | 1 test |
| Alternating hemiplegia of childhood | 2 tests |
| Alternating hemiplegia of childhood 1 | 1 test |
| Alternating hemiplegia of childhood 2 | 2 tests |
| Alzheimer disease, type 3 | 2 tests |
| Alzheimer disease, type 4 | 2 tests |
| Alzheimer's disease | 2 tests |
| Amish lethal microcephaly | 1 test |
| Amyloidogenic transthyretin amyloidosis | 6 tests |
| Amyotrophic lateral sclerosis | 3 tests |
| Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 2 tests |
| Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 3 tests |
| Amyotrophic lateral sclerosis 18 | 2 tests |
| Amyotrophic lateral sclerosis 21 | 4 tests |
| Amyotrophic lateral sclerosis type 1 | 3 tests |
| Amyotrophic lateral sclerosis type 10 | 3 tests |
| Amyotrophic lateral sclerosis type 12 | 2 tests |
| Amyotrophic lateral sclerosis type 2 | 2 tests |
| Amyotrophic lateral sclerosis type 5 | 2 tests |
| Amyotrophic lateral sclerosis type 6 | 3 tests |
| Amyotrophic lateral sclerosis type 8 | 2 tests |
| Anauxetic dysplasia 1 | 3 tests |
| Andersen Tawil syndrome | 3 tests |
| Androgen resistance syndrome | 2 tests |
| Anemia without thromobocytopenia, X-linked | 3 tests |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 5 tests |
| Angelman syndrome | 2 tests |
| Angelman syndrome-like | 3 tests |
| Aniridia 1 | 6 tests |
| Anophthalmia-microphthalmia syndrome | 6 tests |
| Anterior segment dysgenesis 3 | 1 test |
| Anterior segment dysgenesis 6 | 1 test |
| Anterior segment mesenchymal dysgenesis | 1 test |
| Antley-Bixler syndrome | 1 test |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 1 test |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 1 test |
| Aortic valve disease 2 | 1 test |
| Aortic valve disorder | 2 tests |
| Aplastic anemia | 7 tests |
| Arginase deficiency | 5 tests |
| Arginine:glycine amidinotransferase deficiency | 3 tests |
| Argininosuccinate lyase deficiency | 4 tests |
| Arrhythmia | 7 tests |
| Arrhythmogenic right ventricular cardiomyopathy | 5 tests |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 | 5 tests |
| Arrhythmogenic right ventricular cardiomyopathy, type 11 | 5 tests |
| Arrhythmogenic right ventricular cardiomyopathy, type 12 | 5 tests |
| Arrhythmogenic right ventricular cardiomyopathy, type 5 | 5 tests |
| Arrhythmogenic right ventricular cardiomyopathy, type 8 | 5 tests |
| Arrhythmogenic right ventricular cardiomyopathy, type 9 | 5 tests |
| Arrhythmogenic right ventricular dysplasia, familial 1 | 1 test |
| Arrhythmogenic right ventricular dysplasia, familial, 2 | 6 tests |
| Arteriohepatic dysplasia | 3 tests |
| Aspartylglucosaminuria | 3 tests |
| Asphyxiating thoracic dystrophy 2 | 2 tests |
| Asphyxiating thoracic dystrophy 4 | 2 tests |
| Asphyxiating thoracic dystrophy 5 | 3 tests |
| Ataxia, spastic, 1, autosomal dominant | 2 tests |
| Ataxia, spastic, 2, autosomal recessive | 2 tests |
| Ataxia-telangiectasia syndrome | 9 tests |
| Atrial fibrillation | 2 tests |
| Atrial fibrillation, familial, 1 | 2 tests |
| Atrial fibrillation, familial, 7 | 2 tests |
| Atrial septal defect | 2 tests |
| Atrial septal defect 2 | 2 tests |
| Atrial septal defect 3 | 1 test |
| Atrial septal defect 5 | 2 tests |
| Atrial septal defect 7 with or without atrioventricular conduction defects | 2 tests |
| Atrial septal defect 9 | 1 test |
| Atrioventricular septal defect | 2 tests |
| Atrioventricular septal defect 2 | 1 test |
| Atrioventricular septal defect 4 | 2 tests |
| Atrioventricular septal defect 5 | 1 test |
| Atrioventricular septal defect and common atrioventricular junction | 2 tests |
| Attenuated FAP | 7 tests |
| Atypical mycobacteriosis, familial, X-linked 2 | 5 tests |
| Autoimmune disease, multisystem, infantile-onset, 1 | 6 tests |
| Autoimmune disease, multisystem, infantile-onset, 2 | 4 tests |
| Autoimmune disease, syndromic multisystem | 2 tests |
| Autoimmune interstitial lung, joint, and kidney disease | 2 tests |
| Autoimmune lymphoproliferatiVe syndrome, type V | 5 tests |
| Autoimmune lymphoproliferative syndrome | 3 tests |
| Autoimmune lymphoproliferative syndrome, type 1b | 3 tests |
| Autoimmune lymphoproliferative syndrome, type 2A | 2 tests |
| Autoimmune lymphoproliferative syndrome, type III | 4 tests |
| Autoinflammation with infantile enterocolitis | 5 tests |
| Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | 6 tests |
| Autosomal dominant hypohidrotic ectodermal dysplasia | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy | 1 test |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 1 test |
| Autosomal dominant torsion dystonia 4 | 1 test |
| Autosomal recessive axonal neuropathy with neuromyotonia | 4 tests |
| Autosomal recessive centronuclear myopathy | 5 tests |
| Autosomal recessive cutis laxa type 1B | 1 test |
| Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 1 test |
| Autosomal recessive polycystic kidney disease | 3 tests |
| Axenfeld-Rieger syndrome type 1 | 3 tests |
| Axenfeld-Rieger syndrome type 2 | 1 test |
| Axenfeld-Rieger syndrome type 3 | 3 tests |
| Ayme-gripp syndrome | 1 test |
| B-cell expansion with NFKB and T-cell anergy | 3 tests |
| Baller-Gerold syndrome | 1 test |
| Bannayan-Riley-Ruvalcaba syndrome | 13 tests |
| Baraitser-Winter Syndrome 2 | 1 test |
| Baraitser-Winter syndrome 1 | 2 tests |
| Bardet-Biedl syndrome | 5 tests |
| Bardet-Biedl syndrome 1 | 2 tests |
| Bardet-Biedl syndrome 10 | 2 tests |
| Bardet-Biedl syndrome 11 | 2 tests |
| Bardet-Biedl syndrome 12 | 2 tests |
| Bardet-Biedl syndrome 13 | 3 tests |
| Bardet-Biedl syndrome 14 | 3 tests |
| Bardet-Biedl syndrome 15 | 2 tests |
| Bardet-Biedl syndrome 16 | 4 tests |
| Bardet-Biedl syndrome 2 | 2 tests |
| Bardet-Biedl syndrome 3 | 2 tests |
| Bardet-Biedl syndrome 4 | 2 tests |
| Bardet-Biedl syndrome 5 | 2 tests |
| Bardet-Biedl syndrome 6 | 2 tests |
| Bardet-Biedl syndrome 7 | 2 tests |
| Bardet-Biedl syndrome 8 | 2 tests |
| Bardet-Biedl syndrome 9 | 2 tests |
| Bare lymphocyte syndrome 2 | 4 tests |
| Bare lymphocyte syndrome type 1 | 3 tests |
| Basal cell carcinoma, multiple | 4 tests |
| Becker muscular dystrophy | 1 test |
| Beckwith-Wiedemann syndrome | 6 tests |
| Benign Rolandic epilepsy | 1 test |
| Benign familial neonatal seizures | 2 tests |
| Benign familial neonatal seizures 1 | 2 tests |
| Benign familial neonatal seizures 2 | 2 tests |
| Benign familial neonatal-infantile seizures | 2 tests |
| Benign scapuloperoneal muscular dystrophy with cardiomyopathy | 5 tests |
| Beta-D-mannosidosis | 2 tests |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2 tests |
| Beta-propeller protein-associated neurodegeneration | 1 test |
| Bethlem myopathy 1 | 2 tests |
| Bifunctional peroxisomal enzyme deficiency | 1 test |
| Bilateral right-sidedness sequence | 2 tests |
| Bile acid synthesis defect, congenital, 4 | 1 test |
| Biotin-Responsive Multiple Carboxylase Deficiencies | 7 tests |
| Biotin-thiamine-responsive basal ganglia disease | 3 tests |
| Biotinidase deficiency | 7 tests |
| Bladder cancer, somatic | 3 tests |
| Bladder carcinoma | 2 tests |
| Blau syndrome | 2 tests |
| Bloom syndrome | 3 tests |
| Bone marrow failure syndrome 1 | 1 test |
| Borjeson-Forssman-Lehmann syndrome | 1 test |
| Branchiootic syndrome | 1 test |
| Branchiootic syndrome 3 | 1 test |
| Branchiootorenal Spectrum Disorders | 1 test |
| Breast and/or ovarian cancer | 2 tests |
| Breast cancer, early-onset | 8 tests |
| Breast cancer, familial male | 3 tests |
| Breast cancer, lobular | 8 tests |
| Breast cancer, susceptibility to | 11 tests |
| Breast-ovarian cancer, familial 1 | 10 tests |
| Breast-ovarian cancer, familial 2 | 11 tests |
| Breast-ovarian cancer, familial 3 | 4 tests |
| Breast-ovarian cancer, familial 4 | 2 tests |
| Brody myopathy | 3 tests |
| Brown-Vialetto-Van Laere syndrome | 1 test |
| Brown-Vialetto-Van Laere syndrome 1 | 3 tests |
| Brown-Vialetto-Van Laere syndrome 2 | 3 tests |
| Brugada syndrome | 3 tests |
| Brugada syndrome 1 | 3 tests |
| Brugada syndrome 2 | 3 tests |
| Brugada syndrome 3 | 5 tests |
| Brugada syndrome 4 | 3 tests |
| Brugada syndrome 8 | 3 tests |
| Bulbo-spinal atrophy X-linked | 1 test |
| CDC73-Related Disorders | 3 tests |
| CHARGE association | 5 tests |
| CHRNA1-Related Congenital Myasthenic Syndrome | 2 tests |
| COACH syndrome | 2 tests |
| COG1 congenital disorder of glycosylation | 1 test |
| COG7 congenital disorder of glycosylation | 1 test |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm | 1 test |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 1 test |
| Café-au-lait macules with pulmonary stenosis | 3 tests |
| Camptodactyly, tall stature, and hearing loss syndrome | 1 test |
| Camptomelic dysplasia | 1 test |
| Candidiasis, familial, 2 | 1 test |
| Candidiasis, familial, 6 | 2 tests |
| Candidiasis, familial, 8 | 2 tests |
| Candidiasis, familial, 9 | 2 tests |
| Capillary malformation-arteriovenous malformation | 3 tests |
| Carbohydrate-deficient glycoprotein syndrome type I | 2 tests |
| Carbohydrate-deficient glycoprotein syndrome type II | 1 test |
| Carcinoid tumor of intestine | 5 tests |
| Carcinoma of colon | 12 tests |
| Carcinoma of pancreas | 4 tests |
| Cardiac arrhythmia | 7 tests |
| Cardiac arrhythmia, ankyrin B-related | 4 tests |
| Cardiac valvular dysplasia, X-linked | 1 test |
| Cardio-facio-cutaneous syndrome | 3 tests |
| Cardiofaciocutaneous syndrome 1 | 1 test |
| Cardiofaciocutaneous syndrome 2 | 4 tests |
| Cardiofaciocutaneous syndrome 3 | 5 tests |
| Cardiofaciocutaneous syndrome 4 | 5 tests |
| Cardiomyopathy | 7 tests |
| Cardiomyopathy, dilated, 1NN | 4 tests |
| Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | 4 tests |
| Cardiomyopathy, familial hypertrophic, 26 | 5 tests |
| Carney complex | 6 tests |
| Carney complex, type 1 | 6 tests |
| Carnitine acylcarnitine translocase deficiency | 3 tests |
| Carnitine palmitoyltransferase I deficiency | 3 tests |
| Carnitine palmitoyltransferase II 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 | 6 tests |
| Carpal tunnel syndrome | 1 test |
| Carpenter syndrome 1 | 2 tests |
| Carpenter syndrome 2 | 2 tests |
| Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders | 3 tests |
| Caspase-8 deficiency | 3 tests |
| Cataract | 1 test |
| Cataract 1 | 1 test |
| Cataract 11 | 1 test |
| Cataract 12, multiple types | 1 test |
| Cataract 13 with adult i phenotype | 1 test |
| Cataract 15, multiple types | 1 test |
| Cataract 16, multiple types | 1 test |
| Cataract 21, multiple types | 1 test |
| Cataract 33, multiple types | 1 test |
| Cataract 4 | 1 test |
| Cataract 40 | 1 test |
| Cataract and cardiomyopathy | 1 test |
| Cataract, autosomal dominant | 1 test |
| Cataract, autosomal recessive congenital 2 | 1 test |
| Cataract, autosomal recessive congenital 5 | 1 test |
| Cataract, congenital nuclear, autosomal recessive 2 | 1 test |
| Cataract, congenital nuclear, autosomal recessive 3 | 1 test |
| Cataract, congenital zonular, with sutural opacities | 1 test |
| Cataract, coppock-like | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia | 5 tests |
| Catecholaminergic polymorphic ventricular tachycardia type 1 | 1 test |
| Cd8 deficiency, familial | 4 tests |
| Celiac disease | 5 tests |
| Celiac disease 3 | 5 tests |
| Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | 3 tests |
| Cerebellar ataxia infantile with progressive external ophthalmoplegia | 1 test |
| Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 2 tests |
| Cerebral amyloid angiopathy, APP-related | 2 tests |
| Cerebral cavernous malformation | 1 test |
| Cerebral cavernous malformations 1 | 1 test |
| Cerebral cavernous malformations 2 | 1 test |
| Cerebral cavernous malformations 3 | 1 test |
| Cerebral creatine deficiency syndrome | 3 tests |
| Cerebral folate deficiency | 2 tests |
| Cerebral palsy, spastic quadriplegic, 1 | 1 test |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 4 tests |
| Ceroid lipofuscinosis neuronal 1 | 3 tests |
| Ceroid lipofuscinosis neuronal 10 | 2 tests |
| Ceroid lipofuscinosis neuronal 2 | 4 tests |
| Ceroid lipofuscinosis neuronal 5 | 3 tests |
| Ceroid lipofuscinosis neuronal 6 | 3 tests |
| Ceroid lipofuscinosis neuronal 7 | 3 tests |
| Ceroid lipofuscinosis neuronal 8 | 3 tests |
| Ceroid lipofuscinosis, neuronal, 11 | 3 tests |
| Ceroid lipofuscinosis, neuronal, 13 | 1 test |
| Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 3 tests |
| Charcot-Marie-Tooth Neuropathy Type 2H/2K | 4 tests |
| Charcot-Marie-Tooth Neuropathy X | 3 tests |
| Charcot-Marie-Tooth disease | 5 tests |
| Charcot-Marie-Tooth disease and deafness | 3 tests |
| Charcot-Marie-Tooth disease dominant intermediate 3 | 3 tests |
| Charcot-Marie-Tooth disease type 2B1 | 4 tests |
| Charcot-Marie-Tooth disease type 2B2 | 3 tests |
| Charcot-Marie-Tooth disease type 2C | 3 tests |
| Charcot-Marie-Tooth disease type 2D | 3 tests |
| Charcot-Marie-Tooth disease type 2E | 4 tests |
| Charcot-Marie-Tooth disease type 2F | 3 tests |
| Charcot-Marie-Tooth disease type 2H | 2 tests |
| Charcot-Marie-Tooth disease type 2I | 3 tests |
| Charcot-Marie-Tooth disease type 2J | 3 tests |
| Charcot-Marie-Tooth disease type 2K | 4 tests |
| Charcot-Marie-Tooth disease type 2P | 4 tests |
| Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 3 tests |
| Charcot-Marie-Tooth disease, axonal type 2X | 3 tests |
| Charcot-Marie-Tooth disease, axonal, type 2O | 3 tests |
| Charcot-Marie-Tooth disease, axonal, type 2R | 3 tests |
| Charcot-Marie-Tooth disease, axonal, type 2S | 3 tests |
| Charcot-Marie-Tooth disease, axonal, type 2T | 3 tests |
| Charcot-Marie-Tooth disease, axonal, type 2b | 4 tests |
| Charcot-Marie-Tooth disease, axonal, type 2w | 3 tests |
| Charcot-Marie-Tooth disease, axonal, type 2z | 3 tests |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 2 tests |
| Charcot-Marie-Tooth disease, demyelinating, type 1b | 3 tests |
| Charcot-Marie-Tooth disease, demyelinating, type 1d | 4 tests |
| Charcot-Marie-Tooth disease, demyelinating, type 1f | 4 tests |
| Charcot-Marie-Tooth disease, demyelinating, type 4f | 3 tests |
| Charcot-Marie-Tooth disease, dominant intermediate B | 3 tests |
| Charcot-Marie-Tooth disease, dominant intermediate C | 3 tests |
| Charcot-Marie-Tooth disease, dominant intermediate E | 3 tests |
| Charcot-Marie-Tooth disease, dominant intermediate F | 3 tests |
| Charcot-Marie-Tooth disease, recessive intermediate A | 3 tests |
| Charcot-Marie-Tooth disease, recessive intermediate c | 3 tests |
| Charcot-Marie-Tooth disease, type 1C | 3 tests |
| Charcot-Marie-Tooth disease, type 2 | 4 tests |
| Charcot-Marie-Tooth disease, type 2A | 2 tests |
| Charcot-Marie-Tooth disease, type 2A2A | 4 tests |
| Charcot-Marie-Tooth disease, type 2L | 3 tests |
| Charcot-Marie-Tooth disease, type 2N | 3 tests |
| Charcot-Marie-Tooth disease, type 4A | 4 tests |
| Charcot-Marie-Tooth disease, type 4B1 | 3 tests |
| Charcot-Marie-Tooth disease, type 4B2 | 3 tests |
| Charcot-Marie-Tooth disease, type 4C | 3 tests |
| Charcot-Marie-Tooth disease, type 4D | 3 tests |
| Charcot-Marie-Tooth disease, type 4H | 3 tests |
| Charcot-Marie-Tooth disease, type 4J | 3 tests |
| Charcot-Marie-Tooth disease, type I | 3 tests |
| Charcot-Marie-Tooth disease, type IA | 3 tests |
| Charcot-Marie-Tooth disease, type IV | 3 tests |
| Chilblain lupus 1 | 2 tests |
| Chilblain lupus 2 | 3 tests |
| Child syndrome | 1 test |
| Cholestanol storage disease | 2 tests |
| Chondrodysplasia punctata 1, X-linked recessive | 1 test |
| Chondroectodermal dysplasia | 3 tests |
| Chondrosarcoma | 2 tests |
| Chops syndrome | 1 test |
| Choroidal dystrophy, central areolar 2 | 1 test |
| Choroideremia | 1 test |
| Christianson syndrome | 2 tests |
| Chromosome 2q32-q33 deletion syndrome | 3 tests |
| Chromosome 9q deletion syndrome | 2 tests |
| Chronic granulomatous disease | 5 tests |
| Chronic granulomatous disease, X-linked | 5 tests |
| Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | 4 tests |
| Chronic infantile neurological, cutaneous and articular syndrome | 3 tests |
| Chronic mucocutaneous candidiasis | 1 test |
| Chédiak-Higashi syndrome | 3 tests |
| Ciliary dyskinesia | 3 tests |
| Ciliary dyskinesia, primary, 10 | 3 tests |
| Ciliary dyskinesia, primary, 11 | 3 tests |
| Ciliary dyskinesia, primary, 12 | 3 tests |
| Ciliary dyskinesia, primary, 13 | 3 tests |
| Ciliary dyskinesia, primary, 14 | 3 tests |
| Ciliary dyskinesia, primary, 15 | 3 tests |
| Ciliary dyskinesia, primary, 16 | 3 tests |
| Ciliary dyskinesia, primary, 17 | 3 tests |
| Ciliary dyskinesia, primary, 18 | 3 tests |
| Ciliary dyskinesia, primary, 19 | 3 tests |
| Ciliary dyskinesia, primary, 2 | 3 tests |
| Ciliary dyskinesia, primary, 20 | 3 tests |
| Ciliary dyskinesia, primary, 21 | 3 tests |
| Ciliary dyskinesia, primary, 22 | 3 tests |
| Ciliary dyskinesia, primary, 26 | 3 tests |
| Ciliary dyskinesia, primary, 27 | 3 tests |
| Ciliary dyskinesia, primary, 28 | 3 tests |
| Ciliary dyskinesia, primary, 29 | 3 tests |
| Ciliary dyskinesia, primary, 3 | 3 tests |
| Ciliary dyskinesia, primary, 30 | 3 tests |
| Ciliary dyskinesia, primary, 32 | 3 tests |
| Ciliary dyskinesia, primary, 33 | 3 tests |
| Ciliary dyskinesia, primary, 6 | 3 tests |
| Ciliary dyskinesia, primary, 7 | 3 tests |
| Ciliary dyskinesia, primary, 9 | 3 tests |
| Citrin deficiency | 4 tests |
| Citrullinemia type I | 4 tests |
| Citrullinemia type II | 4 tests |
| Cleft palate, cardiac defects, and mental retardation | 2 tests |
| Coffin-Lowry syndrome | 1 test |
| Cohen syndrome | 3 tests |
| Collagen VI-related myopathy | 4 tests |
| Coloboma of optic disc | 3 tests |
| Colorectal cancer 10 | 3 tests |
| Colorectal cancer, susceptibility to, 12 | 3 tests |
| Combined cellular and humoral immune defects with granulomas | 5 tests |
| Combined d-2- and l-2-hydroxyglutaric aciduria | 2 tests |
| Combined deficiency of sialidase AND beta galactosidase | 2 tests |
| Combined immunodeficiency | 12 tests |
| Combined immunodeficiency, X-linked | 7 tests |
| Combined malonic and methylmalonic aciduria | 2 tests |
| Combined molybdoflavoprotein enzyme deficiency | 4 tests |
| Combined saposin deficiency | 3 tests |
| Common variable immunodeficiency | 2 tests |
| Common variable immunodeficiency 1 | 6 tests |
| Common variable immunodeficiency 10 | 3 tests |
| Common variable immunodeficiency 11 | 6 tests |
| Common variable immunodeficiency 2 | 6 tests |
| Common variable immunodeficiency 4 | 3 tests |
| Common variable immunodeficiency 7 | 3 tests |
| Common variable immunodeficiency 8, with autoimmunity | 6 tests |
| Complex V deficiency | 3 tests |
| Cone-rod dystrophy | 1 test |
| Cone-rod dystrophy 13 | 1 test |
| Cone-rod dystrophy 6 | 1 test |
| Cone-rod dystrophy, X-linked 1 | 2 tests |
| Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 1 test |
| Congenital adrenal hypoplasia, X-linked | 1 test |
| Congenital amegakaryocytic thrombocytopenia | 2 tests |
| Congenital aneurysm of ascending aorta | 1 test |
| Congenital bilateral absence of the vas deferens | 3 tests |
| Congenital cataract | 1 test |
| Congenital cataracts, hearing loss, and neurodegeneration | 1 test |
| Congenital disorder of deglycosylation | 2 tests |
| Congenital disorder of glycosylation | 8 tests |
| Congenital disorder of glycosylation type 1B | 1 test |
| Congenital disorder of glycosylation type 1C | 1 test |
| Congenital disorder of glycosylation type 1D | 1 test |
| Congenital disorder of glycosylation type 1E | 1 test |
| Congenital disorder of glycosylation type 1F | 1 test |
| Congenital disorder of glycosylation type 1H | 1 test |
| Congenital disorder of glycosylation type 1I | 1 test |
| Congenital disorder of glycosylation type 1J | 1 test |
| Congenital disorder of glycosylation type 1K | 1 test |
| Congenital disorder of glycosylation type 1M | 1 test |
| Congenital disorder of glycosylation type 1N | 1 test |
| Congenital disorder of glycosylation type 1O | 1 test |
| Congenital disorder of glycosylation type 1P | 1 test |
| Congenital disorder of glycosylation type 1Q | 1 test |
| Congenital disorder of glycosylation type 1t | 1 test |
| Congenital disorder of glycosylation type 1u | 1 test |
| Congenital disorder of glycosylation type 1y | 1 test |
| Congenital disorder of glycosylation type 2B | 2 tests |
| Congenital disorder of glycosylation type 2C | 3 tests |
| Congenital disorder of glycosylation type 2F | 1 test |
| Congenital disorder of glycosylation type 2H | 1 test |
| Congenital disorder of glycosylation type 2J | 1 test |
| Congenital disorder of glycosylation type 2L | 1 test |
| Congenital disorder of glycosylation type 2i | 1 test |
| Congenital disorder of glycosylation type 2k | 1 test |
| Congenital dyserythropoietic anemia | 1 test |
| Congenital dyserythropoietic anemia, type II | 1 test |
| Congenital glucose-galactose malabsorption | 1 test |
| Congenital heart block | 2 tests |
| Congenital heart defects | 2 tests |
| Congenital heart defects, multiple types, 4 | 2 tests |
| Congenital heart disease | 2 tests |
| Congenital hepatic fibrosis | 1 test |
| Congenital hyperammonemia, type I | 4 tests |
| Congenital hypomyelinating neuropathy 1, autosomal recessive | 4 tests |
| Congenital muscular dystrophy | 5 tests |
| Congenital muscular dystrophy due to partial LAMA2 deficiency | 4 tests |
| 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 | 1 test |
| Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 5 tests |
| Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 1 test |
| Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 5 tests |
| Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 5 tests |
| Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 1 test |
| Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 | 5 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 | 3 tests |
| Congenital myasthenic syndrome | 6 tests |
| Congenital myasthenic syndrome 12 | 3 tests |
| Congenital myasthenic syndrome 13 | 2 tests |
| Congenital myasthenic syndrome 1B, fast-channel | 2 tests |
| Congenital myasthenic syndrome, acetazolamide-responsive | 2 tests |
| Congenital myopathy | 4 tests |
| Congenital myopathy with fiber type disproportion | 6 tests |
| Congenital myotonia, autosomal dominant form | 2 tests |
| Congenital myotonia, autosomal recessive form | 2 tests |
| Congenital primary aphakia | 1 test |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 2 tests |
| Conotruncal heart malformations | 2 tests |
| Copper Transport Disorders | 1 test |
| Cornelia de Lange syndrome 1 | 1 test |
| Cornelia de Lange syndrome 3 | 1 test |
| Cornelia de Lange syndrome 4 | 1 test |
| Cornelia de Lange syndrome 5 | 1 test |
| Costello syndrome | 7 tests |
| Cowchock syndrome | 3 tests |
| Cowden syndrome | 11 tests |
| Cowden syndrome 1 | 7 tests |
| Cowden syndrome 3 | 4 tests |
| Cranioectodermal dysplasia | 3 tests |
| Cranioectodermal dysplasia 1 | 2 tests |
| Cranioectodermal dysplasia 2 | 2 tests |
| Cranioectodermal dysplasia 4 | 3 tests |
| Craniosynostosis 1 | 1 test |
| Craniosynostosis 2 | 1 test |
| Craniosynostosis syndrome | 1 test |
| Creatine deficiency, X-linked | 3 tests |
| Crouzon syndrome | 1 test |
| Crouzon syndrome with acanthosis nigricans | 2 tests |
| Curry-Hall syndrome | 3 tests |
| Cutaneous leiomyoma | 1 test |
| Cutaneous malignant melanoma 1 | 1 test |
| Cutaneous malignant melanoma 2 | 4 tests |
| Cutaneous malignant melanoma 3 | 2 tests |
| Cutaneous malignant melanoma 8 | 2 tests |
| Cutaneous malignant melanoma 9 | 1 test |
| Cutaneous melanoma | 2 tests |
| Cutis Gyrata syndrome of Beare and Stevenson | 1 test |
| Cutis laxa with osteodystrophy | 1 test |
| Cutis laxa, X-linked | 4 tests |
| Cutis laxa, autosomal dominant 3 | 1 test |
| Cutis laxa-corneal clouding-oligophrenia syndrome | 1 test |
| Cyclical neutropenia | 6 tests |
| Cystic fibrosis | 3 tests |
| Cystinosis | 2 tests |
| Cystinosis, ocular nonnephropathic | 2 tests |
| Cystinuria | 1 test |
| D-2-hydroxyglutaric aciduria 1 | 2 tests |
| D-2-hydroxyglutaric aciduria 2 | 2 tests |
| Danon disease | 13 tests |
| De Lange syndrome | 3 tests |
| Deafness, autosomal recessive 66 | 1 test |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 4 tests |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 3 tests |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 tests |
| Deficiency of acetyl-CoA acetyltransferase | 5 tests |
| Deficiency of alpha-mannosidase | 3 tests |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 test |
| Deficiency of butyryl-CoA dehydrogenase | 3 tests |
| Deficiency of ferroxidase | 3 tests |
| Deficiency of galactokinase | 3 tests |
| Deficiency of guanidinoacetate methyltransferase | 3 tests |
| Deficiency of hyaluronoglucosaminidase | 2 tests |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 6 tests |
| Deficiency of isobutyryl-CoA dehydrogenase | 3 tests |
| Deficiency of malonyl-CoA decarboxylase | 4 tests |
| Deficiency of phosphoserine phosphatase | 3 tests |
| Deficiency of pyrroline-5-carboxylate reductase | 3 tests |
| Deficiency of xanthine oxidase | 1 test |
| Dejerine-Sottas disease | 4 tests |
| Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 7 tests |
| Desmoid disease, hereditary | 8 tests |
| DiGeorge sequence | 2 tests |
| Diabetes mellitus type 1 | 3 tests |
| Diabetes mellitus type 2 | 2 tests |
| Diabetes mellitus, insulin-dependent, 10 | 4 tests |
| Diabetes mellitus, insulin-dependent, 12 | 5 tests |
| Diamond-Blackfan anemia | 2 tests |
| Diamond-Blackfan anemia 1 | 2 tests |
| Diamond-Blackfan anemia 10 | 2 tests |
| Diamond-Blackfan anemia 11 | 2 tests |
| Diamond-Blackfan anemia 3 | 2 tests |
| Diamond-Blackfan anemia 5 | 2 tests |
| Diamond-Blackfan anemia 7 | 2 tests |
| Diamond-Blackfan anemia 8 | 2 tests |
| Diamond-Blackfan anemia 9 | 2 tests |
| Diffuse mesangial sclerosis | 4 tests |
| Dihydropteridine reductase deficiency | 5 tests |
| Dilated cardiomyopathy 1A | 5 tests |
| Dilated cardiomyopathy 1AA | 5 tests |
| Dilated cardiomyopathy 1BB | 5 tests |
| Dilated cardiomyopathy 1DD | 5 tests |
| Dilated cardiomyopathy 1E | 5 tests |
| Dilated cardiomyopathy 1F | 5 tests |
| Dilated cardiomyopathy 1FF | 5 tests |
| Dilated cardiomyopathy 1G | 5 tests |
| Dilated cardiomyopathy 1HH | 4 tests |
| Dilated cardiomyopathy 1I | 5 tests |
| Dilated cardiomyopathy 1II | 4 tests |
| Dilated cardiomyopathy 1J | 4 tests |
| Dilated cardiomyopathy 1KK | 1 test |
| Dilated cardiomyopathy 1L | 3 tests |
| Dilated cardiomyopathy 1M | 4 tests |
| Dilated cardiomyopathy 1N | 4 tests |
| Dilated cardiomyopathy 1O | 5 tests |
| Dilated cardiomyopathy 1P | 5 tests |
| Dilated cardiomyopathy 1R | 4 tests |
| Dilated cardiomyopathy 1S | 4 tests |
| Dilated cardiomyopathy 1W | 4 tests |
| Dilated cardiomyopathy 1X | 4 tests |
| Dilated cardiomyopathy 1Y | 4 tests |
| Dilated cardiomyopathy 1Z | 4 tests |
| Dilated cardiomyopathy 2A | 5 tests |
| Dilated cardiomyopathy 3B | 5 tests |
| Dilated cardiomyopathy with woolly hair and keratoderma | 4 tests |
| Disorder of amino acid metabolism | 4 tests |
| Disorder of fatty acid metabolism | 20 tests |
| Disorder of organic acid metabolism | 10 tests |
| Disorder of the urea cycle metabolism | 11 tests |
| Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency | 1 test |
| Disorders of Intracellular Cobalamin Metabolism | 4 tests |
| Disseminated atypical mycobacterial infection | 2 tests |
| Distal hereditary motor neuronopathy | 2 tests |
| Distal hereditary motor neuronopathy 2D | 2 tests |
| Distal hereditary motor neuronopathy type 2A | 2 tests |
| Distal hereditary motor neuronopathy type 2B | 2 tests |
| Distal hereditary motor neuronopathy type 5 | 4 tests |
| Distal hereditary motor neuronopathy type 5B | 2 tests |
| Distal hereditary motor neuronopathy type 7B | 3 tests |
| Distal myopathy | 4 tests |
| Distal myopathy Markesbery-Griggs type | 1 test |
| Distal myopathy, Tateyama type | 4 tests |
| Distal spinal muscular atrophy, X-linked 3 | 6 tests |
| Distal spinal muscular atrophy, autosomal recessive 2 | 2 tests |
| Distal spinal muscular atrophy, autosomal recessive 4 | 2 tests |
| Distal spinal muscular atrophy, congenital nonprogressive | 2 tests |
| Dopamine beta hydroxylase deficiency | 1 test |
| Drash syndrome | 6 tests |
| Duane-radial ray syndrome | 1 test |
| Duchenne muscular dystrophy | 1 test |
| Dyskeratosis congenita | 8 tests |
| Dyskeratosis congenita X-linked | 5 tests |
| Dyskeratosis congenita autosomal dominant | 7 tests |
| Dyskeratosis congenita autosomal recessive 1 | 4 tests |
| Dyskeratosis congenita, autosomal dominant 6 | 2 tests |
| Dyskeratosis congenita, autosomal dominant, 2 | 7 tests |
| Dyskeratosis congenita, autosomal dominant, 3 | 4 tests |
| Dyskeratosis congenita, autosomal recessive 2 | 4 tests |
| Dyskeratosis congenita, autosomal recessive 6 | 2 tests |
| Dyskeratosis congenita, autosomal recessive, 3 | 2 tests |
| Dyskeratosis congenita, autosomal recessive, 5 | 3 tests |
| Dysostosis multiplex | 6 tests |
| Dystonia | 1 test |
| Dystonia 1 | 1 test |
| Dystonia 10 | 1 test |
| Dystonia 12 | 2 tests |
| Dystonia 16 | 2 tests |
| Dystonia 24 | 1 test |
| Dystonia 25 | 1 test |
| Dystonia 5, Dopa-responsive type | 4 tests |
| Dystonia 6, torsion | 1 test |
| Dystransthyretinemic euthyroidal hyperthyroxinemia | 1 test |
| Dystrophinopathies | 1 test |
| EGFR-related lung cancer | 1 test |
| EPIDERMODYSPLASIA VERRUCIFORMIS | 2 tests |
| Early infantile epileptic encephalopathy | 2 tests |
| Early infantile epileptic encephalopathy 10 | 2 tests |
| Early infantile epileptic encephalopathy 11 | 2 tests |
| Early infantile epileptic encephalopathy 12 | 2 tests |
| Early infantile epileptic encephalopathy 13 | 3 tests |
| Early infantile epileptic encephalopathy 14 | 2 tests |
| Early infantile epileptic encephalopathy 17 | 2 tests |
| Early infantile epileptic encephalopathy 18 | 2 tests |
| Early infantile epileptic encephalopathy 2 | 3 tests |
| Early infantile epileptic encephalopathy 4 | 3 tests |
| Early infantile epileptic encephalopathy 5 | 2 tests |
| Early infantile epileptic encephalopathy 7 | 2 tests |
| Early infantile epileptic encephalopathy 8 | 4 tests |
| Early infantile epileptic encephalopathy 9 | 2 tests |
| Early myoclonic encephalopathy | 3 tests |
| Early-Onset Familial Alzheimer Disease | 2 tests |
| Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant | 1 test |
| Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive | 1 test |
| Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant | 4 tests |
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 1 test |
| Ehlers-Danlos syndrome | 1 test |
| Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | 1 test |
| Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | 1 test |
| Ehlers-Danlos syndrome, classic type | 1 test |
| Ehlers-Danlos syndrome, hydroxylysine-deficient | 2 tests |
| Ehlers-Danlos syndrome, musculocontractural type | 2 tests |
| Ehlers-Danlos syndrome, procollagen proteinase deficient | 1 test |
| Ehlers-Danlos syndrome, type 3 | 1 test |
| Ehlers-Danlos syndrome, type 4 | 2 tests |
| Ehlers-Danlos syndrome, type vii, autosomal recessive | 1 test |
| Ellis-van Creveld Syndrome | 1 test |
| Emery-Dreifuss muscular dystrophy | 5 tests |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 6 tests |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 5 tests |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 test |
| Encephalopathy, acute, infection-induced, 4, susceptibility to | 1 test |
| Encephalopathy, familial, with neuroserpin inclusion bodies | 1 test |
| Endometrial carcinoma | 6 tests |
| Endometrial neoplasm | 5 tests |
| Endplate acetylcholinesterase deficiency | 2 tests |
| Epidermal nevus | 3 tests |
| Epidermal nevus syndrome | 2 tests |
| Epidermolysis bullosa | 1 test |
| Epilepsy juvenile absence | 2 tests |
| Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 1 test |
| Epilepsy, childhood absence 1 | 2 tests |
| Epilepsy, childhood absence 2 | 1 test |
| Epilepsy, childhood absence 4 | 2 tests |
| Epilepsy, childhood absence 5 | 2 tests |
| Epilepsy, familial focal, with variable foci 1 | 1 test |
| Epilepsy, hearing loss, and mental retardation syndrome | 1 test |
| Epilepsy, idiopathic generalized 8 | 1 test |
| Epilepsy, juvenile myoclonic 5 | 2 tests |
| Epilepsy, lateral temporal lobe, autosomal dominant | 1 test |
| Epilepsy, nocturnal frontal lobe, 5 | 2 tests |
| Epilepsy, nocturnal frontal lobe, type 1 | 1 test |
| Epilepsy, nocturnal frontal lobe, type 3 | 1 test |
| Epilepsy, nocturnal frontal lobe, type 4 | 1 test |
| Epilepsy, progressive myoclonic 3 | 3 tests |
| Epilepsy, progressive myoclonic 4, with or without renal failure | 1 test |
| Epilepsy, progressive myoclonic 6 | 1 test |
| Epilepsy, progressive myoclonic 7 | 1 test |
| Epileptic encephalopathy, early infantile, 1 | 3 tests |
| Epileptic encephalopathy, early infantile, 19 | 2 tests |
| Epileptic encephalopathy, early infantile, 24 | 2 tests |
| Epileptic encephalopathy, early infantile, 25 | 3 tests |
| Epileptic encephalopathy, early infantile, 26 | 2 tests |
| Epileptic encephalopathy, early infantile, 27 | 2 tests |
| Epileptic encephalopathy, early infantile, 28 | 2 tests |
| Epileptic encephalopathy, early infantile, 31 | 2 tests |
| Epileptic encephalopathy, early infantile, 32 | 2 tests |
| Epileptic encephalopathy, early infantile, 33 | 2 tests |
| Epileptic encephalopathy, early infantile, 35 | 1 test |
| Epileptic encephalopathy, early infantile, 36 | 1 test |
| Epileptic encephalopathy, early infantile, 37 | 2 tests |
| Epileptic encephalopathy, early infantile, 53 | 1 test |
| Epiphyseal chondrodysplasia, miura type | 1 test |
| Episodic pain syndrome, familial, 3 | 2 tests |
| Ethylmalonic encephalopathy | 5 tests |
| FG syndrome | 1 test |
| FG syndrome 2 | 1 test |
| Fabry disease | 9 tests |
| Fabry disease, cardiac variant | 5 tests |
| Facial dysmorphism, immunodeficiency, livedo, and short stature | 2 tests |
| Familial Mediterranean fever | 5 tests |
| Familial adenomatous polyposis 1 | 9 tests |
| Familial amyloid nephropathy with urticaria AND deafness | 4 tests |
| Familial aortopathy | 2 tests |
| Familial cancer of breast | 12 tests |
| Familial chronic mucocutaneous candidiasis | 1 test |
| Familial cold autoinflammatory syndrome | 1 test |
| Familial cold autoinflammatory syndrome 2 | 4 tests |
| Familial cold autoinflammatory syndrome 3 | 6 tests |
| Familial cold autoinflammatory syndrome 4 | 5 tests |
| Familial cold urticaria | 4 tests |
| Familial colorectal cancer | 11 tests |
| Familial dilated cardiomyopathy | 6 tests |
| Familial dysautonomia | 3 tests |
| Familial episodic pain syndrome 1 | 2 tests |
| Familial febrile seizures 8 | 1 test |
| Familial hemiplegic migraine | 1 test |
| Familial hemiplegic migraine type 2 | 2 tests |
| Familial hemophagocytic lymphohistiocytosis | 4 tests |
| Familial hypercholesterolemia | 1 test |
| Familial hypercholesterolemias | 1 test |
| Familial hyperinsulinism | 1 test |
| Familial hypertrophic cardiomyopathy 1 | 5 tests |
| Familial hypertrophic cardiomyopathy 10 | 4 tests |
| Familial hypertrophic cardiomyopathy 11 | 4 tests |
| Familial hypertrophic cardiomyopathy 12 | 4 tests |
| Familial hypertrophic cardiomyopathy 13 | 4 tests |
| Familial hypertrophic cardiomyopathy 15 | 4 tests |
| Familial hypertrophic cardiomyopathy 18 | 5 tests |
| Familial hypertrophic cardiomyopathy 2 | 5 tests |
| Familial hypertrophic cardiomyopathy 3 | 4 tests |
| Familial hypertrophic cardiomyopathy 4 | 4 tests |
| Familial hypertrophic cardiomyopathy 6 | 5 tests |
| Familial hypertrophic cardiomyopathy 7 | 5 tests |
| Familial hypertrophic cardiomyopathy 8 | 4 tests |
| Familial hypertrophic cardiomyopathy 9 | 4 tests |
| Familial infantile myasthenia | 2 tests |
| Familial mediterranean fever, autosomal dominant | 5 tests |
| Familial medullary thyroid carcinoma | 5 tests |
| Familial multiple polyposis syndrome | 9 tests |
| Familial pancreatic carcinoma | 4 tests |
| Familial platelet disorder with associated myeloid malignancy | 5 tests |
| Familial prostate cancer | 1 test |
| Familial visceral amyloidosis, Ostertag type | 3 tests |
| Fanconi anemia | 2 tests |
| Fanconi anemia, complementation group A | 2 tests |
| Fanconi anemia, complementation group B | 2 tests |
| Fanconi anemia, complementation group C | 2 tests |
| Fanconi anemia, complementation group D1 | 2 tests |
| Fanconi anemia, complementation group D2 | 2 tests |
| Fanconi anemia, complementation group E | 2 tests |
| Fanconi anemia, complementation group F | 2 tests |
| Fanconi anemia, complementation group G | 2 tests |
| Fanconi anemia, complementation group I | 2 tests |
| Fanconi anemia, complementation group J | 2 tests |
| Fanconi anemia, complementation group L | 2 tests |
| Fanconi anemia, complementation group M | 2 tests |
| Fanconi anemia, complementation group N | 4 tests |
| Fanconi anemia, complementation group O | 4 tests |
| Fanconi anemia, complementation group P | 2 tests |
| Fanconi anemia, complementation group Q | 2 tests |
| Fanconi-Bickel syndrome | 2 tests |
| Farber disease | 2 tests |
| Fatal familial insomnia | 2 tests |
| Febrile seizures, familial, 1 | 2 tests |
| Fibrous dysplasia of jaw | 2 tests |
| Focal segmental glomerulosclerosis 7 | 1 test |
| Follicular lymphoma 1 | 1 test |
| Follicular thyroid carcinoma | 3 tests |
| Foveal hypoplasia and presenile cataract syndrome | 3 tests |
| Frasier syndrome | 6 tests |
| Frontometaphyseal dysplasia | 1 test |
| Frontotemporal dementia | 3 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 3 tests |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 4 tests |
| Frontotemporal dementia, ubiquitin-positive | 3 tests |
| Fructose-biphosphatase deficiency | 4 tests |
| Fucosidosis | 3 tests |
| Fumarase deficiency | 5 tests |
| GARS-Associated Axonal Neuropathy | 3 tests |
| GATA-1-related thrombocytopenia with dyserythropoiesis | 3 tests |
| GLUT1 deficiency syndrome 1 | 1 test |
| GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | 2 tests |
| GM1 gangliosidosis | 2 tests |
| GM1 gangliosidosis type 2 | 2 tests |
| GTP cyclohydrolase I deficiency | 6 tests |
| Galactosemia | 2 tests |
| Galactosylceramide beta-galactosidase deficiency | 3 tests |
| Gamma-aminobutyric acid transaminase deficiency | 1 test |
| Gangliosidosis GM1 type 3 | 2 tests |
| Gardner syndrome | 8 tests |
| Gastric lymphoma | 1 test |
| Gastrointestinal stroma tumor | 6 tests |
| Gaucher disease | 3 tests |
| Gaucher disease, atypical, due to saposin C deficiency | 3 tests |
| Generalized epilepsy with febrile seizures plus | 2 tests |
| Generalized epilepsy with febrile seizures plus 3 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 2 | 2 tests |
| Generalized epilepsy with febrile seizures plus, type 7 | 2 tests |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 test |
| Genetic prion diseases | 2 tests |
| Genitopatellar syndrome | 1 test |
| Gerstmann-Straussler-Scheinker syndrome | 2 tests |
| Giant axonal neuropathy | 1 test |
| Gillespie syndrome | 3 tests |
| Gillessen-Kaesbach-Nishimura syndrome | 1 test |
| Glaucoma | 1 test |
| Glaucoma 3, primary congenital, A | 1 test |
| Glaucoma 3, primary infantile, b | 1 test |
| Glioma | 2 tests |
| Glioma susceptibility 1 | 3 tests |
| Glioma susceptibility 2 | 2 tests |
| Glioma susceptibility 9 | 1 test |
| Glucose 6 phosphate dehydrogenase deficiency | 2 tests |
| Glucose-6-phosphate transport defect | 5 tests |
| Glutaric acidemia | 1 test |
| Glutaric aciduria, type 1 | 5 tests |
| Glutaric aciduria, type 2 | 6 tests |
| Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to | 2 tests |
| Gluthathione synthetase deficiency | 2 tests |
| Glycine N-methyltransferase deficiency | 2 tests |
| Glycine encephalopathy with normal serum glycine | 2 tests |
| Glycogen phosphorylase kinase deficiency | 3 tests |
| Glycogen storage disease | 8 tests |
| Glycogen storage disease 0, muscle | 2 tests |
| Glycogen storage disease IXb | 3 tests |
| Glycogen storage disease IXc | 2 tests |
| Glycogen storage disease IXd | 2 tests |
| Glycogen storage disease XI | 2 tests |
| Glycogen storage disease XV | 2 tests |
| Glycogen storage disease type 13 | 2 tests |
| Glycogen storage disease type 1A | 2 tests |
| Glycogen storage disease type III | 3 tests |
| Glycogen storage disease type IXa1 | 2 tests |
| Glycogen storage disease type X | 2 tests |
| Glycogen storage disease, type I | 5 tests |
| Glycogen storage disease, type II | 8 tests |
| Glycogen storage disease, type IV | 3 tests |
| Glycogen storage disease, type V | 2 tests |
| Glycogen storage disease, type VI | 2 tests |
| Glycogen storage disease, type VII | 2 tests |
| Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | 2 tests |
| Gorlin syndrome | 6 tests |
| Graft-versus-host disease, susceptibility to | 4 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 4 tests |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III | 4 tests |
| Greig cephalopolysyndactyly syndrome | 2 tests |
| Griscelli syndrome type 2 | 3 tests |
| Growth hormone insensitivity with immunodeficiency | 3 tests |
| HNSHA due to aldolase A deficiency | 2 tests |
| Haim-Munk syndrome | 2 tests |
| Hajdu-Cheney syndrome | 1 test |
| Hamartoma of hypothalamus | 2 tests |
| Hashimoto thyroiditis | 5 tests |
| Hay-Wells syndrome of ectodermal dysplasia | 1 test |
| Heimler syndrome 2 | 1 test |
| Helicobacter pylori infection, susceptibility to | 2 tests |
| Hematologic neoplasm | 2 tests |
| Hemochromatosis type 1 | 1 test |
| Hemochromatosis type 2A | 1 test |
| Hemochromatosis type 2B | 1 test |
| Hemochromatosis type 3 | 1 test |
| Hemochromatosis type 4 | 1 test |
| Hemophagocytic lymphohistiocytosis, familial, 2 | 3 tests |
| Hemophagocytic lymphohistiocytosis, familial, 3 | 3 tests |
| Hemophagocytic lymphohistiocytosis, familial, 4 | 3 tests |
| Hemophagocytic lymphohistiocytosis, familial, 5 | 4 tests |
| Hepatic methionine adenosyltransferase deficiency | 2 tests |
| Hepatic venoocclusive disease with immunodeficiency | 2 tests |
| Hepatitis b virus, susceptibility to | 5 tests |
| Hepatitis c virus, susceptibility to | 3 tests |
| Hepatocellular carcinoma | 1 test |
| Hereditary Nephrotic Syndromes, Autosomal Dominant | 2 tests |
| Hereditary Paraganglioma-Pheochromocytoma Syndromes | 7 tests |
| Hereditary breast and ovarian cancer syndrome | 11 tests |
| Hereditary cancer-predisposing syndrome | 6 tests |
| Hereditary coproporphyria | 1 test |
| Hereditary cutaneous melanoma | 4 tests |
| Hereditary diffuse gastric cancer | 8 tests |
| Hereditary disease | 1 test |
| Hereditary fructosuria | 1 test |
| Hereditary hearing loss and deafness | 3 tests |
| Hereditary hemorrhagic telangiectasia type 1 | 1 test |
| Hereditary hemorrhagic telangiectasia type 2 | 2 tests |
| Hereditary insensitivity to pain with anhidrosis | 2 tests |
| Hereditary mixed polyposis syndrome 2 | 7 tests |
| Hereditary multiple osteochondromas | 2 tests |
| Hereditary myopathy with early respiratory failure | 3 tests |
| Hereditary nephrotic syndrome | 2 tests |
| Hereditary neutrophilia | 2 tests |
| Hereditary nonpolyposis colorectal cancer type 4 | 7 tests |
| Hereditary nonpolyposis colorectal cancer type 5 | 7 tests |
| Hereditary nonpolyposis colorectal cancer type 8 | 9 tests |
| Hereditary ovarian carcinoma | 6 tests |
| Hereditary pancreatitis | 1 test |
| Hereditary sensory and autonomic neuropathy type IC | 2 tests |
| Hereditary sensory and autonomic neuropathy type II | 3 tests |
| Hereditary sensory and autonomic neuropathy type IIA | 3 tests |
| Hereditary sensory and autonomic neuropathy type IIB | 2 tests |
| Hereditary sensory and autonomic neuropathy type IIC | 2 tests |
| Hereditary sensory neuropathy type 1D | 2 tests |
| Hereditary sensory neuropathy type IE | 2 tests |
| Hereditary sensory neuropathy type IF | 2 tests |
| Hereditary spastic paraplegia | 4 tests |
| Hereditary thrombophilia | 1 test |
| Hermansky Pudlak syndrome 2 | 3 tests |
| Hermansky-Pudlak syndrome | 3 tests |
| Hermansky-Pudlak syndrome 9 | 3 tests |
| Herpes simplex encephalitis 1 | 2 tests |
| Herpes simplex encephalitis, susceptibility to, 3 | 2 tests |
| Herpes simplex encephalitis, susceptibility to, 4 | 2 tests |
| Heterotaxy, visceral, 4, autosomal | 2 tests |
| Heterotaxy, visceral, 6, autosomal | 1 test |
| Heterotaxy, visceral, X-linked | 2 tests |
| Histiocytic medullary reticulosis | 6 tests |
| Histiocytosis-lymphadenopathy plus syndrome | 2 tests |
| Holocarboxylase synthetase deficiency | 5 tests |
| Holoprosencephaly 2 | 1 test |
| Holoprosencephaly 3 | 2 tests |
| Holoprosencephaly 4 | 1 test |
| Holoprosencephaly 5 | 1 test |
| Holoprosencephaly 9 | 1 test |
| Holoprosencephaly sequence | 4 tests |
| Holt-Oram syndrome | 3 tests |
| Homocysteinemia due to MTHFR deficiency | 2 tests |
| Homocystinuria due to CBS deficiency | 4 tests |
| Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type | 3 tests |
| Hoyeraal Hreidarsson syndrome | 3 tests |
| Human immunodeficiency virus type 1, susceptibility to | 5 tests |
| Huntington disease-like 1 | 2 tests |
| Hydrolethalus syndrome 2 | 2 tests |
| Hyperammonemia, type III | 4 tests |
| Hypercholesterolemia, autosomal dominant, 3 | 1 test |
| Hypercholesterolemia, autosomal dominant, type B | 1 test |
| Hypercholesterolemia, autosomal recessive | 1 test |
| Hyperekplexia | 4 tests |
| Hyperekplexia 2 | 2 tests |
| Hyperekplexia 3 | 2 tests |
| Hyperekplexia hereditary | 4 tests |
| Hyperferritinemia cataract syndrome | 1 test |
| Hyperimmunoglobulin D with periodic fever | 5 tests |
| Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive | 6 tests |
| Hyperimmunoglobulin E syndrome | 6 tests |
| Hyperimmunoglobulin M syndrome | 1 test |
| Hyperinsulinemic hypoglycemia, familial, 4 | 3 tests |
| Hyperinsulinism-hyperammonemia syndrome | 1 test |
| Hyperkalemic Periodic Paralysis Type 1 | 2 tests |
| Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency | 2 tests |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 3 tests |
| Hyperparathyroidism | 2 tests |
| Hyperparathyroidism 1 | 3 tests |
| Hyperphenylalaninemia, BH4-deficient, D | 5 tests |
| Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency | 3 tests |
| Hyperphosphatasia with mental retardation syndrome 2 | 2 tests |
| Hyperphosphatasia-intellectual disability syndrome | 2 tests |
| Hyperprolinemia | 3 tests |
| Hypocalcemia, autosomal dominant 1 | 1 test |
| Hypocalciuric hypercalcemia, familial, type 1 | 1 test |
| Hypochondroplasia | 1 test |
| Hypoglycemia with deficiency of glycogen synthetase in the liver | 2 tests |
| Hypoglycemia, neonatal, simulating foetopathia diabetica | 1 test |
| Hypogonadism with anosmia | 1 test |
| Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 1 test |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 1 test |
| Hypohidrotic X-linked ectodermal dysplasia | 1 test |
| Hypohidrotic ectodermal dysplasia | 1 test |
| Hypokalemic periodic paralysis | 2 tests |
| Hypokalemic periodic paralysis 1 | 2 tests |
| Hypokalemic periodic paralysis, type 2 | 2 tests |
| Hypomyelination and Congenital Cataract | 1 test |
| Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 1 test |
| Hypoplastic left heart syndrome 1 | 2 tests |
| Hypoplastic left heart syndrome 2 | 2 tests |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 2 tests |
| Hypoproteinemia, hypercatabolic | 3 tests |
| Hypospadias 1, X-linked | 1 test |
| I cell disease | 2 tests |
| IL21R immunodeficiency | 5 tests |
| IRAK4 deficiency | 2 tests |
| IVIC syndrome | 1 test |
| Idiopathic fibrosing alveolitis, chronic form | 2 tests |
| Idiopathic generalized epilepsy | 2 tests |
| Idiopathic growth hormone deficiency | 5 tests |
| Idiopathic livedo reticularis with systemic involvement | 4 tests |
| Ige responsiveness, atopic | 8 tests |
| Immune dysfunction with T-cell inactivation due to calcium entry defect 1 | 3 tests |
| Immune dysfunction with T-cell inactivation due to calcium entry defect 2 | 4 tests |
| Immunodeficiency 11 | 3 tests |
| Immunodeficiency 12 | 3 tests |
| Immunodeficiency 14 | 5 tests |
| Immunodeficiency 15 | 3 tests |
| Immunodeficiency 16 | 3 tests |
| Immunodeficiency 17 | 4 tests |
| Immunodeficiency 18 | 4 tests |
| Immunodeficiency 19 | 4 tests |
| Immunodeficiency 22 | 3 tests |
| Immunodeficiency 23 | 3 tests |
| Immunodeficiency 24 | 3 tests |
| Immunodeficiency 26 with or without neurologic abnormalities | 5 tests |
| Immunodeficiency 27b | 2 tests |
| Immunodeficiency 28 | 2 tests |
| Immunodeficiency 29 | 2 tests |
| Immunodeficiency 30 | 2 tests |
| Immunodeficiency 31C | 4 tests |
| Immunodeficiency 31a | 4 tests |
| Immunodeficiency 32a | 2 tests |
| Immunodeficiency 32b | 2 tests |
| Immunodeficiency 36 | 5 tests |
| Immunodeficiency 37 | 3 tests |
| Immunodeficiency 38 with basal ganglia calcification | 2 tests |
| Immunodeficiency 39 | 1 test |
| Immunodeficiency 40 | 3 tests |
| Immunodeficiency 42 | 1 test |
| Immunodeficiency 44 | 2 tests |
| Immunodeficiency 51 | 2 tests |
| Immunodeficiency 8 | 4 tests |
| Immunodeficiency due to defect in CD3-gamma | 4 tests |
| Immunodeficiency due to defect in cd3-zeta | 4 tests |
| Immunodeficiency due to defect in mapbp-interacting protein | 2 tests |
| Immunodeficiency with hyper IgM type 1 | 6 tests |
| Immunodeficiency with hyper IgM type 2 | 4 tests |
| Immunodeficiency with hyper IgM type 5 | 3 tests |
| Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia | 6 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 3 tests |
| Immunoglobulin A deficiency 2 | 3 tests |
| Inclusion body myopathy 2 | 5 tests |
| Inclusion body myopathy 3 | 2 tests |
| Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 7 tests |
| Indifference to pain, congenital, autosomal recessive | 1 test |
| Infantile GM1 gangliosidosis | 2 tests |
| Infantile Parkinsonism-dystonia | 3 tests |
| Infantile Refsum's disease | 1 test |
| Infantile cortical hyperostosis | 1 test |
| Infantile nephronophthisis | 4 tests |
| Infantile neuroaxonal dystrophy | 1 test |
| Infantile neuronal ceroid lipofuscinosis | 2 tests |
| Infantile-onset ascending hereditary spastic paralysis | 4 tests |
| Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 2 tests |
| Inflammatory bowel disease 1 | 4 tests |
| Inflammatory bowel disease 25, autosomal recessive | 4 tests |
| Inflammatory bowel disease 28, autosomal recessive | 4 tests |
| Inflammatory skin and bowel disease, neonatal 1 | 3 tests |
| Inosine triphosphatase deficiency | 1 test |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 3 tests |
| Interleukin 2 receptor, alpha, deficiency of | 4 tests |
| Intestinal pseudoobstruction neuronal chronic idiopathic X-linked | 1 test |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies | 1 test |
| Intrinsic factor deficiency | 2 tests |
| Invasive pneumococcal disease, recurrent isolated, 1 | 2 tests |
| Irido-corneo-trabecular dysgenesis | 4 tests |
| Iridogoniodysgenesis, dominant type | 2 tests |
| Isolated Nonsyndromic Congenital Heart Disease/Defects | 2 tests |
| Isolated coronal synostosis | 2 tests |
| Isovaleryl-CoA dehydrogenase deficiency | 4 tests |
| Jackson-Weiss syndrome | 1 test |
| Jakob-Creutzfeldt disease | 2 tests |
| Jankovic Rivera syndrome | 2 tests |
| Jervell and Lange-Nielsen syndrome | 3 tests |
| Jervell and Lange-Nielsen syndrome 2 | 3 tests |
| Jeune thoracic dystrophy | 3 tests |
| Joubert syndrome | 4 tests |
| Joubert syndrome 1 | 2 tests |
| Joubert syndrome 10 | 4 tests |
| Joubert syndrome 13 | 3 tests |
| Joubert syndrome 14 | 3 tests |
| Joubert syndrome 15 | 2 tests |
| Joubert syndrome 16 | 2 tests |
| Joubert syndrome 17 | 2 tests |
| Joubert syndrome 18 | 2 tests |
| Joubert syndrome 2 | 3 tests |
| Joubert syndrome 20 | 2 tests |
| Joubert syndrome 21 | 3 tests |
| Joubert syndrome 22 | 2 tests |
| Joubert syndrome 23 | 2 tests |
| Joubert syndrome 25 | 2 tests |
| Joubert syndrome 3 | 3 tests |
| Joubert syndrome 4 | 2 tests |
| Joubert syndrome 5 | 3 tests |
| Joubert syndrome 6 | 2 tests |
| Joubert syndrome 7 | 2 tests |
| Joubert syndrome 8 | 2 tests |
| Joubert syndrome 9 | 3 tests |
| Juvenile amyotrophic lateral sclerosis | 2 tests |
| Juvenile hemochromatosis | 1 test |
| Juvenile myelomonocytic leukemia | 4 tests |
| Juvenile myoclonic epilepsy | 2 tests |
| Juvenile nephropathic cystinosis | 2 tests |
| Juvenile neuronal ceroid lipofuscinosis | 3 tests |
| Juvenile polyposis syndrome | 7 tests |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 8 tests |
| Juvenile primary lateral sclerosis | 2 tests |
| Juvenile-onset dystonia | 1 test |
| KBG syndrome | 1 test |
| KCNQ2-Related Disorders | 2 tests |
| Kabuki syndrome 1 | 1 test |
| Kabuki syndrome 2 | 1 test |
| Kallmann syndrome 1 | 1 test |
| Kallmann syndrome 2 | 1 test |
| Kallmann syndrome 5 | 2 tests |
| Kanzaki disease | 2 tests |
| Kartagener syndrome | 3 tests |
| Keratitis, hereditary | 3 tests |
| Klippel Feil syndrome | 2 tests |
| Klippel-Feil syndrome 1, autosomal dominant | 2 tests |
| Kohlschutter's syndrome | 1 test |
| Koolen-de Vries syndrome | 2 tests |
| Krabbe disease atypical due to Saposin A deficiency | 3 tests |
| Kugelberg-Welander disease | 3 tests |
| Kuru, susceptibility to | 2 tests |
| L-2-hydroxyglutaric aciduria | 2 tests |
| L-ferritin deficiency | 1 test |
| LEOPARD syndrome 1 | 4 tests |
| LEOPARD syndrome 2 | 4 tests |
| LEOPARD syndrome 3 | 4 tests |
| Lafora disease | 1 test |
| Lambdoidal craniosynostosis | 1 test |
| Lamellar cataract | 1 test |
| Laminin alpha 2-related dystrophy | 4 tests |
| Langer-Giedion syndrome | 1 test |
| Leber congenital amaurosis | 2 tests |
| Leber congenital amaurosis 1 | 1 test |
| Leber congenital amaurosis 10 | 2 tests |
| Leber congenital amaurosis 12 | 1 test |
| Leber congenital amaurosis 13 | 1 test |
| Leber congenital amaurosis 14 | 1 test |
| Leber congenital amaurosis 15 | 1 test |
| Leber congenital amaurosis 16 | 1 test |
| Leber congenital amaurosis 17 | 2 tests |
| Leber congenital amaurosis 2 | 1 test |
| Leber congenital amaurosis 3 | 1 test |
| Leber congenital amaurosis 4 | 1 test |
| Leber congenital amaurosis 5 | 1 test |
| Leber congenital amaurosis 6 | 1 test |
| Leber congenital amaurosis 7 | 1 test |
| Leber congenital amaurosis 8 | 1 test |
| Leber congenital amaurosis 9 | 1 test |
| Left ventricular noncompaction | 1 test |
| Left ventricular noncompaction 10 | 4 tests |
| Left ventricular noncompaction 6 | 4 tests |
| Legius syndrome | 3 tests |
| Leigh syndrome | 8 tests |
| Lenz microphthalmia syndrome | 3 tests |
| Lesch-Nyhan syndrome | 3 tests |
| Leukocyte adhesion deficiency type 1 | 3 tests |
| Leukocyte adhesion deficiency, type III | 2 tests |
| Levy-Hollister syndrome | 1 test |
| Lewy body dementia | 2 tests |
| Li-Fraumeni syndrome | 18 tests |
| Li-Fraumeni syndrome 1 | 22 tests |
| Li-Fraumeni syndrome 2 | 7 tests |
| Lig4 syndrome | 6 tests |
| Limb-girdle muscular dystrophy | 5 tests |
| Limb-girdle muscular dystrophy, type 1A | 4 tests |
| Limb-girdle muscular dystrophy, type 1B | 5 tests |
| Limb-girdle muscular dystrophy, type 1C | 4 tests |
| Limb-girdle muscular dystrophy, type 1E | 4 tests |
| Limb-girdle muscular dystrophy, type 2A | 5 tests |
| Limb-girdle muscular dystrophy, type 2B | 4 tests |
| Limb-girdle muscular dystrophy, type 2D | 4 tests |
| Limb-girdle muscular dystrophy, type 2E | 4 tests |
| Limb-girdle muscular dystrophy, type 2F | 4 tests |
| Limb-girdle muscular dystrophy, type 2J | 4 tests |
| Limb-girdle muscular dystrophy, type 2L | 4 tests |
| Limb-girdle muscular dystrophy, type 2Q | 4 tests |
| Limb-girdle muscular dystrophy, type 2S | 4 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | 5 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 5 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 5 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 5 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 5 tests |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | 5 tests |
| Limb-mammary syndrome | 1 test |
| Lissencephaly 2, X-linked | 2 tests |
| Loeys-Dietz syndrome | 1 test |
| Loeys-Dietz syndrome 1 | 2 tests |
| Loeys-Dietz syndrome 2 | 1 test |
| Loeys-Dietz syndrome 3 | 1 test |
| Loeys-Dietz syndrome 4 | 1 test |
| Long QT syndrome | 3 tests |
| Long QT syndrome 1 | 3 tests |
| Long QT syndrome 14 | 3 tests |
| Long QT syndrome 15 | 3 tests |
| Long QT syndrome 2 | 3 tests |
| Long QT syndrome 3 | 3 tests |
| Long QT syndrome 5 | 3 tests |
| Long QT syndrome 6 | 3 tests |
| Long QT syndrome 9 | 3 tests |
| Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 3 tests |
| Lowe syndrome | 1 test |
| Lung cancer | 2 tests |
| Luscan-lumish syndrome | 1 test |
| Lymphedema, primary, with myelodysplasia | 7 tests |
| Lymphoproliferative syndrome 1 | 5 tests |
| Lymphoproliferative syndrome 1, X-linked | 4 tests |
| Lymphoproliferative syndrome 2 | 6 tests |
| Lymphoproliferative syndrome 2, X-linked | 4 tests |
| Lynch syndrome | 17 tests |
| Lynch syndrome I | 15 tests |
| Lynch syndrome II | 17 tests |
| Lysinuric protein intolerance | 3 tests |
| Lysosomal acid lipase deficiency | 3 tests |
| METHYLCOBALAMIN DEFICIENCY, cblG TYPE | 3 tests |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 3 tests |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 2 tests |
| MORM syndrome | 1 test |
| MYH-associated polyposis | 5 tests |
| Macrocephalus | 1 test |
| Macrocephaly with multiple epiphyseal dysplasia and distinctive facies | 2 tests |
| Macrocephaly/autism syndrome | 1 test |
| Macular degeneration, X-linked atrophic | 2 tests |
| Macular dystrophy, vitelliform, adult-onset | 1 test |
| Majeed syndrome | 3 tests |
| Malignant hyperthermia | 1 test |
| Malignant hyperthermia susceptibility | 4 tests |
| Malignant hyperthermia susceptibility type 5 | 3 tests |
| Malignant hyperthermia, susceptibility to, 1 | 3 tests |
| Malignant melanoma of skin | 2 tests |
| Malignant rhabdoid tumor, somatic | 1 test |
| Malignant tumor of prostate | 1 test |
| Malignant tumor of testis | 3 tests |
| Mammalian Susceptibility to Mycobacterial Disease | 1 test |
| Maple syrup urine disease | 5 tests |
| Maple syrup urine disease type 1B | 5 tests |
| Maple syrup urine disease, mild variant | 5 tests |
| Maple syrup urine disease, type 3 | 5 tests |
| Marfan syndrome | 2 tests |
| Marinesco-Sjögren syndrome | 1 test |
| Marshall-Smith syndrome | 1 test |
| Mast syndrome | 2 tests |
| McKusick Kaufman syndrome | 1 test |
| Meacham syndrome | 4 tests |
| Meckel syndrome type 1 | 3 tests |
| Meckel syndrome type 2 | 3 tests |
| Meckel syndrome type 3 | 2 tests |
| Meckel syndrome type 4 | 3 tests |
| Meckel syndrome type 5 | 1 test |
| Meckel syndrome type 6 | 3 tests |
| Meckel syndrome type 7 | 4 tests |
| Meckel syndrome type 8 | 2 tests |
| Meckel syndrome, type 10 | 2 tests |
| Meckel syndrome, type 11 | 2 tests |
| Meckel syndrome, type 9 | 2 tests |
| Meckel-Gruber syndrome | 5 tests |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 4 tests |
| Medulloblastoma | 4 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 test |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 test |
| Megaloblastic anemia due to inborn errors of metabolism | 2 tests |
| Melanoma astrocytoma syndrome | 4 tests |
| Melanoma, cutaneous malignant, susceptibility to, 10 | 2 tests |
| Melanoma-pancreatic cancer syndrome | 5 tests |
| Melnick-Fraser syndrome | 1 test |
| Melnick-Needles syndrome | 1 test |
| Membranous cataract | 1 test |
| Meningioma, familial | 4 tests |
| Menkes kinky-hair syndrome | 4 tests |
| Mental retardation 3, X-linked | 2 tests |
| Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 2 tests |
| Mental retardation, X-linked 1 | 2 tests |
| Mental retardation, X-linked 98 | 1 test |
| Mental retardation, X-linked, syndromic 10 | 1 test |
| Mental retardation, X-linked, syndromic, Raymond type | 1 test |
| Mental retardation, autosomal dominant 1 | 2 tests |
| Mental retardation, autosomal dominant 2 | 1 test |
| Mental retardation, autosomal dominant 31 | 2 tests |
| Mental retardation, autosomal dominant 38 | 2 tests |
| Mental retardation, autosomal dominant 7 | 2 tests |
| Mental retardation, autosomal recessive 15 | 1 test |
| Mental retardation, autosomal recessive 41 | 1 test |
| Mental retardation, autosomal recessive 7 | 1 test |
| Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 1 test |
| Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 2 tests |
| Mental retardation, syndromic, Claes-Jensen type, X-linked | 2 tests |
| Mental retardation, with or without seizures, ARX-related, X-linked | 2 tests |
| Mental retardation-hypotonic facies syndrome X-linked, 1 | 3 tests |
| Merosin deficient congenital muscular dystrophy | 4 tests |
| Mesothelioma, malignant | 7 tests |
| Metabolic disease | 1 test |
| Metabolic myopathy | 5 tests |
| Metachromatic leukodystrophy | 3 tests |
| Metaphyseal chondrodysplasia, McKusick type | 3 tests |
| Metaphyseal dysplasia without hypotrichosis | 3 tests |
| Methylcrotonyl-CoA carboxylase deficiency | 5 tests |
| Methylmalonic acidemia | 6 tests |
| Methylmalonic acidemia with homocystinuria | 5 tests |
| Methylmalonic acidemia with homocystinuria cblD | 6 tests |
| Methylmalonic aciduria cblA type | 5 tests |
| Methylmalonic aciduria cblB type | 5 tests |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 5 tests |
| Methylmalonic aciduria due to transcobalamin receptor defect | 2 tests |
| Methylmalonyl-CoA epimerase deficiency | 3 tests |
| Mevalonic aciduria | 5 tests |
| Microcephaly, epilepsy, and diabetes syndrome | 2 tests |
| Microcephaly, normal intelligence and immunodeficiency | 6 tests |
| Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | 1 test |
| Microphthalmia syndromic 3 | 1 test |
| Microphthalmia syndromic 5 | 2 tests |
| Microphthalmia syndromic 6 | 1 test |
| Microphthalmia syndromic 9 | 1 test |
| Microphthalmia, isolated 2 | 2 tests |
| Microphthalmia, isolated 3 | 1 test |
| Microphthalmia, isolated 4 | 2 tests |
| Microphthalmia, isolated 5 | 1 test |
| Microphthalmia, isolated 6 | 1 test |
| Microphthalmia, isolated 8 | 1 test |
| Microphthalmia, isolated, with coloboma 3 | 2 tests |
| Microphthalmia, isolated, with coloboma 5 | 1 test |
| Microphthalmia, isolated, with coloboma 6 | 2 tests |
| Microvascular complications of diabetes 4 | 2 tests |
| Migraine | 1 test |
| Minicore myopathy | 1 test |
| Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 1 test |
| Mitochondrial DNA depletion syndrome 4B, MNGIE type | 1 test |
| Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 3 tests |
| Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 3 tests |
| Mitochondrial diseases | 1 test |
| Mitochondrial pyruvate carrier deficiency | 1 test |
| Mitochondrial trifunctional protein deficiency | 3 tests |
| Miyoshi muscular dystrophy 1 | 4 tests |
| Molybdenum cofactor deficiency, complementation group A | 2 tests |
| Molybdenum cofactor deficiency, complementation group C | 3 tests |
| Monoamine oxidase A deficiency | 1 test |
| Morquio syndrome | 3 tests |
| Mowat-Wilson syndrome | 2 tests |
| Mucolipidosis III Gamma | 2 tests |
| Mucolipidosis type IV | 2 tests |
| Mucopolysaccharidosis | 1 test |
| Mucopolysaccharidosis type I | 6 tests |
| Mucopolysaccharidosis type VI | 2 tests |
| Mucopolysaccharidosis type VII | 3 tests |
| Mucopolysaccharidosis, MPS-I-H/S | 6 tests |
| Mucopolysaccharidosis, MPS-I-S | 6 tests |
| Mucopolysaccharidosis, MPS-II | 5 tests |
| Mucopolysaccharidosis, MPS-III-A | 4 tests |
| Mucopolysaccharidosis, MPS-III-B | 3 tests |
| Mucopolysaccharidosis, MPS-III-C | 3 tests |
| Mucopolysaccharidosis, MPS-III-D | 3 tests |
| Mucopolysaccharidosis, MPS-IV-A | 3 tests |
| Mucopolysaccharidosis, MPS-IV-B | 3 tests |
| Muenke syndrome | 2 tests |
| Muir-Torré syndrome | 14 tests |
| Multiminicore Disease | 3 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2 tests |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 tests |
| Multiple congenital exostosis | 2 tests |
| Multiple cutaneous leiomyomas | 1 test |
| Multiple endocrine neoplasia | 2 tests |
| Multiple endocrine neoplasia, type 1 | 9 tests |
| Multiple endocrine neoplasia, type 2 | 5 tests |
| Multiple endocrine neoplasia, type 2a | 5 tests |
| Multiple endocrine neoplasia, type 2b | 5 tests |
| Multiple endocrine neoplasia, type 4 | 2 tests |
| Multiple exostoses type 2 | 1 test |
| Multiple fibrofolliculomas | 1 test |
| Multiple gastrointestinal atresias | 3 tests |
| Multiple mitochondrial dysfunctions syndrome 1 | 2 tests |
| Multiple myeloma | 2 tests |
| Multiple sclerosis, susceptibility to, 5 | 1 test |
| Multiple sulfatase deficiency | 3 tests |
| Muscle AMP deaminase deficiency | 1 test |
| Muscular Diseases | 5 tests |
| Muscular dystrophy | 5 tests |
| Muscular dystrophy, congenital, due to ITGA7 deficiency | 4 tests |
| Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 4 tests |
| Muscular dystrophy, congenital, megaconial type | 4 tests |
| Muscular dystrophy-dystroglycanopathy | 5 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 1 test |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 5 tests |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 | 1 test |
| Myasthenia, limb-girdle, familial | 2 tests |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 2 tests |
| Myasthenic syndrome, congenital, 14 | 2 tests |
| Myasthenic syndrome, congenital, 22 | 1 test |
| Myasthenic syndrome, congenital, 2a, slow-channel | 2 tests |
| Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency | 2 tests |
| Myasthenic syndrome, congenital, 3a, slow-channel | 2 tests |
| Myasthenic syndrome, congenital, 3b, fast-channel | 2 tests |
| Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 2 tests |
| Myasthenic syndrome, congenital, 4b, fast-channel | 2 tests |
| Myasthenic syndrome, congenital, 8 | 2 tests |
| Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | 2 tests |
| Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 4 tests |
| Myasthenic syndrome, slow-channel congenital | 2 tests |
| Mycobacterial and viral infections, susceptibility to, autosomal recessive | 4 tests |
| Mycobacterium tuberculosis, susceptibility to | 3 tests |
| Myd88 deficiency | 2 tests |
| Myelodysplastic syndrome | 7 tests |