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