EGL Genetic Diagnostics (Eurofins Clinical Diagnostics), EGL

General information

EGL Genetic Diagnostics, EGL
Eurofins Clinical Diagnostics
2460 Mountain Industrial Boulevard
Tucker
Georgia
United States - 30084
http://www.egl-eurofins.com/
Organization ID: 500060

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 37980

Gene

GeneSubmissionsLast Updated
A2ML12Jun 30, 2017
AARS10Jun 30, 2017
AARS26Jun 30, 2017
ABAT15Jun 30, 2017
ABCA11Jun 30, 2017
ABCA121Jun 30, 2017
ABCA131Jun 30, 2017
ABCA35Jun 30, 2017
ABCA4154Jun 30, 2017
ABCB14Jun 30, 2017
ABCB11152Jun 30, 2017
ABCB4124Jun 30, 2017
ABCC2127Jun 30, 2017
ABCC610Jun 30, 2017
ABCC816Jun 30, 2017
ABCC97Jun 30, 2017
ABCD155Jun 30, 2017
ABCD41Jun 30, 2017
ABCG552Jun 30, 2017
ABCG882Jun 30, 2017
ABHD127Jun 30, 2017
ACACA1Jun 30, 2017
ACAD112Jun 30, 2017
ACAD824Jun 30, 2017
ACAD95Jun 30, 2017
ACADM59Jun 30, 2017
ACADS9Jun 30, 2017
ACADSB2Jun 30, 2017
ACADVL77Jun 30, 2017
ACAN31Jun 30, 2017
ACAT125Jun 30, 2017
ACO21Jun 30, 2017
ACP11Jun 30, 2017
ACP53Jun 30, 2017
ACSF31Jun 30, 2017
ACSL44Jun 30, 2017
ACTA118Jun 30, 2017
ACTA23Jun 30, 2017
ACTB5Jun 30, 2017
ACTC12Jun 30, 2017
ACTG115Jun 30, 2017
ACTN22Jun 30, 2017
ACTN42Jun 30, 2017
ACVR12Jun 30, 2017
ACVRL12Jun 30, 2017
ACY13Jun 30, 2017
ADA2Jun 30, 2017
ADAM99Jun 30, 2017
ADAMTS102Jun 30, 2017
ADAMTS132Jun 30, 2017
ADAMTS172Jun 30, 2017
ADAMTS212Jun 30, 2017
ADAMTSL22Jun 30, 2017
ADAMTSL42Jun 30, 2017
ADAR11Jun 30, 2017
ADAT32Jun 30, 2017
ADCY12Jun 30, 2017
ADCY52Jun 30, 2017
ADGRG126Jun 30, 2017
ADGRV1283Jun 30, 2017
ADNP2Jun 30, 2017
ADSL26Jun 30, 2017
AFF227Jun 30, 2017
AFG3L25Jun 30, 2017
AGA7Jun 30, 2017
AGAP31Jun 30, 2017
AGL34Jun 30, 2017
AGMO2Jun 30, 2017
AGPAT23Jun 30, 2017
AGPS10Jun 30, 2017
AGRN7Jun 30, 2017
AGTR24Jun 30, 2017
AGXT13Jun 30, 2017
AGXT21Jun 30, 2017
AHDC11Jun 30, 2017
AHI129Jun 30, 2017
AICDA2Jun 30, 2017
AIPL124Jun 30, 2017
AIRE12Jun 30, 2017
AKAP913Jun 30, 2017
AKR1D118Jun 30, 2017
AKT11Jun 30, 2017
ALDH18A12Jun 30, 2017
ALDH1A31Jun 30, 2017
ALDH3A26Jun 30, 2017
ALDH5A121Jun 30, 2017
ALDH7A115Jun 30, 2017
ALDOB22Jun 30, 2017
ALG125Jun 30, 2017
ALG118Jun 30, 2017
ALG1211Jun 30, 2017
ALG138Jun 30, 2017
ALG141Jun 30, 2017
ALG26Jun 30, 2017
ALG33Jun 30, 2017
ALG67Jun 30, 2017
ALG811Jun 30, 2017
ALG98Jun 30, 2017
ALK3Jun 30, 2017
ALMS140Jun 30, 2017
ALPL33Jun 30, 2017
ALS21Jun 30, 2017
ALX11Jun 30, 2017
AMACR9Jun 30, 2017
AMER12Jun 30, 2017
AMPD138Jun 30, 2017
AMPD21Jun 30, 2017
AMPD38Jun 30, 2017
ANG1Jun 30, 2017
ANK29Jun 30, 2017
ANK32Jun 30, 2017
ANKH7Jun 30, 2017
ANKK11Jun 30, 2017
ANKRD15Jun 30, 2017
ANKRD112Jun 30, 2017
ANO5224Jun 30, 2017
AP1S21Jun 30, 2017
AP3B12Jun 30, 2017
AP3D11Jun 30, 2017
AP4B11Jun 30, 2017
AP4M11Jun 30, 2017
APC43Jun 30, 2017
APOB5Jun 30, 2017
APOE2Jun 30, 2017
APTX11Jun 30, 2017
AQP21Jun 30, 2017
AR1Nov 3, 2016
ARFGEF29Jun 30, 2017
ARHGAP3125Jun 30, 2017
ARHGEF63Jun 30, 2017
ARHGEF97Jun 30, 2017
ARID1A5Jun 30, 2017
ARID1B4Jun 30, 2017
ARID4A1Jun 30, 2017
ARL13B4Jun 30, 2017
ARL61Jun 30, 2017
ARMC41Jun 30, 2017
ARSA59Jun 30, 2017
ARSB22Jun 30, 2017
ARSE1Jun 30, 2017
ARX27Jun 30, 2017
ASAH14Jun 30, 2017
ASCL14Jun 30, 2017
ASL26Jun 30, 2017
ASMT1Jun 30, 2017
ASPA6Jun 30, 2017
ASPH1Jun 30, 2017
ASPM112Jun 30, 2017
ASS129Jun 30, 2017
ASXL19Jun 30, 2017
ASXL35Jun 30, 2017
ATG16L12Jun 30, 2017
ATL12Jun 30, 2017
ATM66Jun 30, 2017
ATP13A216Jun 30, 2017
ATP1A223Jun 30, 2017
ATP1A36Jun 30, 2017
ATP2A17Jun 30, 2017
ATP2B31Jun 30, 2017
ATP6AP28Jun 30, 2017
ATP6V0A231Jun 30, 2017
ATP6V1B15Jun 30, 2017
ATP7A25Jun 30, 2017
ATP7B60Jun 30, 2017
ATP8B178Jun 30, 2017
ATPAF22Jun 30, 2017
ATR10Jun 30, 2017
ATRX58Jun 30, 2017
ATXN102Jun 30, 2017
AUH3Jun 30, 2017
AURKC1Jun 30, 2017
AUTS21Jun 30, 2017
AXIN21Jun 30, 2017
B3GALT612Jun 30, 2017
B3GAT31Jun 30, 2017
B3GLCT26Jun 30, 2017
B4GALT16Jun 30, 2017
B4GALT78Jun 30, 2017
B9D21Jun 30, 2017
BAAT30Jun 30, 2017
BAG316Jun 30, 2017
BAP11Jun 30, 2017
BBS121Jun 30, 2017
BBS1020Jun 30, 2017
BBS1220Jun 30, 2017
BBS216Jun 30, 2017
BBS416Jun 30, 2017
BBS54Jun 30, 2017
BBS714Jun 30, 2017
BBS918Jun 30, 2017
BCKDHA69Jun 30, 2017
BCKDHB67Jun 30, 2017
BCKDK20Jun 30, 2017
BCL11A1Jun 30, 2017
BCOR33Jun 30, 2017
BCS1L3Jun 30, 2017
BEST130Jun 30, 2017
BHLHA91Jun 30, 2017
BIN116Jun 30, 2017
BLK1Jun 30, 2017
BLM32Jun 30, 2017
BLOC1S34Jun 30, 2017
BMP16Jun 30, 2017
BMP27Jun 30, 2017
BMP43Jun 30, 2017
BMPR1A2Jun 30, 2017
BMPR1B5Jun 30, 2017
BMPR22Jun 30, 2017
BRAF28Jun 30, 2017
BRCA191Jun 30, 2017
BRCA2144Jun 30, 2017
BRD23Jun 30, 2017
BRF11Jun 30, 2017
BRIP12Jun 30, 2017
BRWD38Jun 30, 2017
BSCL28Jun 30, 2017
BSND7Jun 30, 2017
BTD38Jun 30, 2017
BTK5Jun 30, 2017
C12orf651Jun 30, 2017
C19orf123Jun 30, 2017
C1QTNF515Jun 30, 2017
C2CD32Jun 30, 2017
C8orf372Jun 30, 2017
CA24Jun 30, 2017
CA43Jun 30, 2017
CABP22Jun 30, 2017
CABP410Jun 30, 2017
CACNA1A89Jun 30, 2017
CACNA1C95Jun 30, 2017
CACNA1D5Jun 30, 2017
CACNA1F26Jun 30, 2017
CACNA1H24Jun 30, 2017
CACNA1S2Jun 30, 2017
CACNA2D425Jun 30, 2017
CACNB22Jun 30, 2017
CACNB415Jun 30, 2017
CACNG21Jun 30, 2017
CAMTA12Jun 30, 2017
CANT114Jun 30, 2017
CAPN3312Jun 30, 2017
CAPN52Jun 30, 2017
CARD111Jun 30, 2017
CASK27Jun 30, 2017
CASQ26Jun 30, 2017
CASR26Jun 30, 2017
CAV336Jun 30, 2017
CAVIN17Jun 30, 2017
CBL5Jun 30, 2017
CBS48Jun 30, 2017
CC2D2A129Jun 30, 2017
CCDC1031Jun 30, 2017
CCDC1144Jun 30, 2017
CCDC2213Jun 30, 2017
CCDC28B2Jun 30, 2017
CCDC398Jun 30, 2017
CCDC4022Jun 30, 2017
CCDC503Jun 30, 2017
CCDC88A1Jun 30, 2017
CCDC88C1Jun 30, 2017
CCM21Jun 30, 2017
CCN63Jun 30, 2017
CD3202Jun 30, 2017
CD362Jun 30, 2017
CD40LG3Jun 30, 2017
CDC734Jun 30, 2017
CDH16Jun 30, 2017
CDH23147Jun 30, 2017
CDH325Jun 30, 2017
CDHR119Jun 30, 2017
CDK167Jun 30, 2017
CDK5RAP25Jun 30, 2017
CDKL543Jun 30, 2017
CDKN1C13Jun 30, 2017
CDKN2A3Jun 30, 2017
CDON4Jun 30, 2017
CDT12Jun 30, 2017
CEACAM167Jun 30, 2017
CEL1Jun 30, 2017
CENPE1Jun 30, 2017
CENPJ37Jun 30, 2017
CEP1356Jun 30, 2017
CEP15214Jun 30, 2017
CEP1646Jun 30, 2017
CEP290159Jun 30, 2017
CEP411Jun 30, 2017
CEP634Jun 30, 2017
CERKL18Jun 30, 2017
CFH2Jun 30, 2017
CFI1Jun 30, 2017
CFL21Jun 30, 2017
CFTR321Jun 30, 2017
CHAT28Jun 30, 2017
CHD1L2Jun 30, 2017
CHD7144Jun 30, 2017
CHD830Jun 30, 2017
CHKB1Jun 30, 2017
CHM11Jun 30, 2017
CHMP1A4Jun 30, 2017
CHMP2B2Jun 30, 2017
CHRNA16Jun 30, 2017
CHRNA227Jun 30, 2017
CHRNA445Jun 30, 2017
CHRNB15Jun 30, 2017
CHRNB29Jun 30, 2017
CHRND20Jun 30, 2017
CHRNE17Jun 30, 2017
CHRNG12Jun 30, 2017
CHST1411Jun 30, 2017
CHST312Jun 30, 2017
CHST63Jun 30, 2017
CHSY19Jun 30, 2017
CIB27Jun 30, 2017
CIC1Jun 30, 2017
CIITA1Jun 30, 2017
CISD21Jun 30, 2017
CKAP2L1Jun 30, 2017
CLCN18Jun 30, 2017
CLCN41Jun 30, 2017
CLCN53Jun 30, 2017
CLCN79Jun 30, 2017
CLCNKB1Jun 30, 2017
CLDN114Jun 30, 2017
CLDN148Jun 30, 2017
CLDN161Jun 30, 2017
CLIC22Jun 30, 2017
CLIC51Jun 30, 2017
CLN324Jun 30, 2017
CLN525Jun 30, 2017
CLN617Jun 30, 2017
CLN821Jun 30, 2017
CLPB3Jun 30, 2017
CLPP3Jun 30, 2017
CLRN17Jun 30, 2017
CNGA18Jun 30, 2017
CNGA320Jun 30, 2017
CNGB144Jun 30, 2017
CNGB323Jun 30, 2017
CNKSR26Jun 30, 2017
CNNM47Jun 30, 2017
CNTN41Jun 30, 2017
CNTNAP298Jun 30, 2017
COA51Jun 30, 2017
COCH8Jun 30, 2017
COG117Jun 30, 2017
COG410Jun 30, 2017
COG59Jun 30, 2017
COG613Jun 30, 2017
COG79Jun 30, 2017
COG86Jun 30, 2017
COL10A19Jun 30, 2017
COL11A159Jun 30, 2017
COL11A279Jun 30, 2017
COL17A12Jun 30, 2017
COL18A12Jun 30, 2017
COL1A192Jun 30, 2017
COL1A239Jun 30, 2017
COL27A13Jun 30, 2017
COL2A1112Jun 30, 2017
COL3A118Jun 30, 2017
COL4A129Jun 30, 2017
COL4A21Jun 30, 2017
COL4A37Jun 30, 2017
COL4A48Jun 30, 2017
COL4A511Jun 30, 2017
COL4A64Jun 30, 2017
COL5A141Jun 30, 2017
COL5A224Jun 30, 2017
COL6A1411Jun 30, 2017
COL6A2490Jun 30, 2017
COL6A3663Jun 30, 2017
COL6A62Jun 30, 2017
COL7A14Jun 30, 2017
COL9A132Jun 30, 2017
COL9A222Jun 30, 2017
COL9A332Jun 30, 2017
COLQ12Jun 30, 2017
COMP9Jun 30, 2017
COQ21Jun 30, 2017
COQ61Jun 30, 2017
COQ8A11Jun 30, 2017
COX103Jun 30, 2017
COX153Jun 30, 2017
COX4I22Jun 30, 2017
CP11Jun 30, 2017
CPA616Jun 30, 2017
CPLANE136Jun 30, 2017
CPOX1Jun 30, 2017
CPS19Jun 30, 2017
CPT1A25Jun 30, 2017
CPT229Jun 30, 2017
CRB136Jun 30, 2017
CREBBP124Jun 30, 2017
CRELD13Jun 30, 2017
CRTAP8Jun 30, 2017
CRX11Jun 30, 2017
CRYAB3Jun 30, 2017
CRYM4Jun 30, 2017
CSF2RA1Jun 30, 2017
CSMD11Jun 30, 2017
CSPP11Jun 30, 2017
CSRP31Jun 30, 2017
CSTB5Jun 30, 2017
CTCF1Jun 30, 2017
CTDP112Jun 30, 2017
CTNNB11Jun 30, 2017
CTNS10Jun 30, 2017
CTSA1Jun 30, 2017
CTSC3Jun 30, 2017
CTSD16Jun 30, 2017
CTSF2Jun 30, 2017
CTSK4Jun 30, 2017
CUBN8Jun 30, 2017
CUL4B5Jun 30, 2017
CUL773Jun 30, 2017
CYBA9Jun 30, 2017
CYBB2Jun 30, 2017
CYP1B124Jun 30, 2017
CYP21A211Jun 30, 2017
CYP24A11Jun 30, 2017
CYP27A169Jun 30, 2017
CYP2C196Jun 30, 2017
CYP2C94Jun 30, 2017
CYP2D61Jun 30, 2017
CYP4V213Jun 30, 2017
CYP7A127Jun 30, 2017
CYP7B129Jun 30, 2017
DAG199Jun 30, 2017
DARS22Jun 30, 2017
DBH1Jun 30, 2017
DBT52Jun 30, 2017
DCAF173Jun 30, 2017
DCDC214Jun 30, 2017
DCHS13Jun 30, 2017
DCLRE1C8Jun 30, 2017
DCPS2Jun 30, 2017
DCTN19Jun 30, 2017
DCX8Jun 30, 2017
DDC3Jun 30, 2017
DDOST7Jun 30, 2017
DDR29Jun 30, 2017
DDX3X1Jun 30, 2017
DEAF11Jun 30, 2017
DES99Jun 30, 2017
DGKE2Jun 30, 2017
DGUOK25Jun 30, 2017
DHCR246Jun 30, 2017
DHCR779Jun 30, 2017
DHDDS5Jun 30, 2017
DHFR1Jun 30, 2017
DHODH1Jun 30, 2017
DIABLO2Jun 30, 2017
DIAPH114Jun 30, 2017
DIAPH31Jun 30, 2017
DIP2B1Jun 30, 2017
DIS3L21Jun 30, 2017
DISP11Jun 30, 2017
DKC15Jun 30, 2017
DLAT3Jun 30, 2017
DLD5Jun 30, 2017
DLG39Jun 30, 2017
DLL311Jun 30, 2017
DLX36Jun 30, 2017
DMD1116Jun 30, 2017
DMP19Jun 30, 2017
DNA21Jun 30, 2017
DNAAF112Jun 30, 2017
DNAAF210Jun 30, 2017
DNAAF39Jun 30, 2017
DNAAF42Jun 30, 2017
DNAH11Jun 30, 2017
DNAH1154Jun 30, 2017
DNAH538Jun 30, 2017
DNAI18Jun 30, 2017
DNAI210Jun 30, 2017
DNAJB22Jun 30, 2017
DNAJB658Jun 30, 2017
DNAJC31Jun 30, 2017
DNAJC56Jun 30, 2017
DNAL13Jun 30, 2017
DNASE1L31Jun 30, 2017
DNM213Jun 30, 2017
DNMT123Jun 30, 2017
DNMT3A3Jun 30, 2017
DOCK66Jun 30, 2017
DOCK84Jun 30, 2017
DOK733Jun 30, 2017
DOLK7Jun 30, 2017
DPAGT14Jun 30, 2017
DPM13Jun 30, 2017
DPM22Jun 30, 2017
DPYD9Jun 30, 2017
DPYS1Jun 30, 2017
DRC11Jun 30, 2017
DRD27Jun 30, 2017
DRD52Jun 30, 2017
DSC25Jun 30, 2017
DSG211Jun 30, 2017
DSP20Jun 30, 2017
DSPP20Jun 30, 2017
DST1Jun 30, 2017
DTNA1Jun 30, 2017
DUOX22Jun 30, 2017
DUOXA21Jun 30, 2017
DYM15Jun 30, 2017
DYNC1H121Jun 30, 2017
DYNC2H191Jun 30, 2017
DYRK1A4Jun 30, 2017
DYSF713Jun 30, 2017
EARS25Jun 30, 2017
EBP1Jun 30, 2017
ECEL11Jun 30, 2017
EDA6Jun 30, 2017
EDAR6Jun 30, 2017
EDARADD2Jun 30, 2017
EDNRB3Jun 30, 2017
EFEMP110Jun 30, 2017
EFEMP21Jun 30, 2017
EFHC119Jun 30, 2017
EFHC22Jun 30, 2017
EGR23Jun 30, 2017
EHHADH32Jun 30, 2017
EHMT182Jun 30, 2017
EIF2AK312Jun 30, 2017
EIF2B12Jun 30, 2017
EIF2B22Jun 30, 2017
EIF2B35Jun 30, 2017
EIF2B46Jun 30, 2017
EIF2B55Jun 30, 2017
ELANE1Jun 30, 2017
ELMOD31Jun 30, 2017
ELN11Jun 30, 2017
ELOVL46Jun 30, 2017
ELP115Jun 30, 2017
EMC41Jun 30, 2017
EMD47Jun 30, 2017
EMX26Jun 30, 2017
ENG11Jun 30, 2017
ENPP121Jun 30, 2017
ENTPD11Jun 30, 2017
EOMES7Jun 30, 2017
EP30058Jun 30, 2017
EPG54Jun 30, 2017
EPM2A17Jun 30, 2017
EPS85Jun 30, 2017
ERAP21Jun 30, 2017
ERCC24Jun 30, 2017
ERCC42Jun 30, 2017
ERCC51Jun 30, 2017
ERCC634Jun 30, 2017
ERCC813Jun 30, 2017
ERLIN21Jun 30, 2017
ESCO214Jun 30, 2017
ESRRB6Jun 30, 2017
ETFA6Jun 30, 2017
ETFB3Jun 30, 2017
ETFDH11Jun 30, 2017
EVC46Jun 30, 2017
EVC242Jun 30, 2017
EXOSC31Jun 30, 2017
EXT16Jun 30, 2017
EXT211Jun 30, 2017
EYA14Jun 30, 2017
EYA43Jun 30, 2017
EYS75Jun 30, 2017
EZH23Jun 30, 2017
F119Jun 30, 2017
F13B1Jun 30, 2017
F71Jun 30, 2017
F81Jun 30, 2017
F92Jun 30, 2017
FA2H3Jun 30, 2017
FAAH22Jun 30, 2017
FAH35Jun 30, 2017
FAM126A1Jun 30, 2017
FAM161A15Jun 30, 2017
FAM205A1Jun 30, 2017
FAM20C19Jun 30, 2017
FANCA4Jun 30, 2017
FANCB8Jun 30, 2017
FANCC6Jun 30, 2017
FANCI3Jun 30, 2017
FANCL1Nov 3, 2016
FAR11Jun 30, 2017
FASTKD27Jun 30, 2017
FAT43Jun 30, 2017
FBLN114Jun 30, 2017
FBLN56Jun 30, 2017
FBN168Jun 30, 2017
FBN241Jun 30, 2017
FBP11Jun 30, 2017
FBXL41Jun 30, 2017
FBXL61Jun 30, 2017
FBXO311Jun 30, 2017
FBXO73Jun 30, 2017
FBXW410Jun 30, 2017
FERMT311Jun 30, 2017
FGD144Jun 30, 2017
FGD47Jun 30, 2017
FGF102Jun 30, 2017
FGF141Jun 30, 2017
FGF231Jun 30, 2017
FGF31Jun 30, 2017
FGFR115Jun 30, 2017
FGFR220Jun 30, 2017
FGFR340Jun 30, 2017
FH28Jun 30, 2017
FHL135Jun 30, 2017
FIG49Jun 30, 2017
FIGLA2Jun 30, 2017
FKBP1017Jun 30, 2017
FKBP143Jun 30, 2017
FKRP116Jun 30, 2017
FKTN85Jun 30, 2017
FLCN32Jun 30, 2017
FLNA146Jun 30, 2017
FLNB51Jun 30, 2017
FLNC65Jun 30, 2017
FLVCR13Jun 30, 2017
FLVCR24Jun 30, 2017
FMN142Jun 30, 2017
FMN26Jun 30, 2017
FMR114Jun 30, 2017
FOLR115Jun 30, 2017
FOXC128Jun 30, 2017
FOXE14Jun 30, 2017
FOXE315Jun 30, 2017
FOXG128Jun 30, 2017
FOXH112Jun 30, 2017
FOXI18Jun 30, 2017
FOXL23Jun 30, 2017
FOXN11Jun 30, 2017
FOXP120Jun 30, 2017
FOXP229Jun 30, 2017
FOXP36Jun 30, 2017
FOXRED15Jun 30, 2017
FRAS172Jun 30, 2017
FREM126Jun 30, 2017
FREM257Jun 30, 2017
FREM31Jun 30, 2017
FRMPD48Jun 30, 2017
FSCN227Jun 30, 2017
FSHR1Jun 30, 2017
FTCD24Jun 30, 2017
FTH16Jun 30, 2017
FTO1Jun 30, 2017
FTSJ12Jun 30, 2017
FUCA15Jun 30, 2017
FXN3Jun 30, 2017
FZD47Jun 30, 2017
FZD61Jun 30, 2017
G6PC11Jun 30, 2017
G6PD53Jun 30, 2017
GAA280Jun 30, 2017
GABRA118Jun 30, 2017
GABRB31Jun 30, 2017
GABRG28Jun 30, 2017
GABRP1Jun 30, 2017
GALC46Jun 30, 2017
GALE32Jun 30, 2017
GALK14Jun 30, 2017
GALNS53Jun 30, 2017
GALNT36Jun 30, 2017
GALT116Jun 30, 2017
GAMT8Jun 30, 2017
GAN2Jun 30, 2017
GARS7Jun 30, 2017
GATA23Jun 30, 2017
GATA61Jun 30, 2017
GATAD14Jun 30, 2017
GATM4Jun 30, 2017
GBA52Jun 30, 2017
GBE16Jun 30, 2017
GCDH28Jun 30, 2017
GCH12Jun 30, 2017
GCK8Jun 30, 2017
GDF17Jun 30, 2017
GDF21Jun 30, 2017
GDF56Jun 30, 2017
GDF61Jun 30, 2017
GDI14Jun 30, 2017
GDNF3Jun 30, 2017
GFPT12Jun 30, 2017
GH111Jun 30, 2017
GHR12Jun 30, 2017
GHRHR11Jun 30, 2017
GIPC310Jun 30, 2017
GJB13Jun 30, 2017
GJB283Jun 30, 2017
GJB310Jun 30, 2017
GJB44Jun 30, 2017
GJB611Jun 30, 2017
GK2Jun 30, 2017
GLA144Jun 30, 2017
GLB1107Jun 30, 2017
GLDC1Nov 3, 2016
GLE112Jun 30, 2017
GLI248Jun 30, 2017
GLI340Jun 30, 2017
GLIS212Jun 30, 2017
GLIS37Jun 30, 2017
GLRB1Jun 30, 2017
GLUL1Jun 30, 2017
GM2A4Jun 30, 2017
GMPPA1Jun 30, 2017
GMPPB1Jun 30, 2017
GNAO11Jun 30, 2017
GNAS18Jun 30, 2017
GNAT11Jun 30, 2017
GNAT23Jun 30, 2017
GNE163Jun 30, 2017
GNPTAB34Jun 30, 2017
GNPTG2Jun 30, 2017
GNS5Jun 30, 2017
GORAB3Jun 30, 2017
GOSR211Jun 30, 2017
GP1BB2Jun 30, 2017
GP61Jun 30, 2017
GP93Jun 30, 2017
GPBAR117Jun 30, 2017
GPC35Jun 30, 2017
GPC64Jun 30, 2017
GPD1L1Jun 30, 2017
GPD21Jun 30, 2017
GPIHBP11Jun 30, 2017
GPR1433Jun 30, 2017
GPR17923Jun 30, 2017
GPSM23Jun 30, 2017
GREM13Jun 30, 2017
GRHL23Jun 30, 2017
GRHL31Jun 30, 2017
GRHPR1Jun 30, 2017
GRIA35Jun 30, 2017
GRID21Jun 30, 2017
GRIN2A27Jun 30, 2017
GRIN2B5Jun 30, 2017
GRIP19Jun 30, 2017
GRM633Jun 30, 2017
GRN4Jun 30, 2017
GRXCR13Jun 30, 2017
GRXCR22Jun 30, 2017
GSDME7Jun 30, 2017
GSPT22Jun 30, 2017
GTF2H51Jun 30, 2017
GUCA1A8Jun 30, 2017
GUCA1B6Jun 30, 2017
GUCY2D35Jun 30, 2017
GUSB16Jun 30, 2017
GYS14Jun 30, 2017
GYS22Jun 30, 2017
HADH2Jun 30, 2017
HADHA21Jun 30, 2017
HADHB5Jun 30, 2017
HARS3Jun 30, 2017
HARS24Jun 30, 2017
HBB9Jun 30, 2017
HCCS4Jun 30, 2017
HCFC119Jun 30, 2017
HCN121Jun 30, 2017
HCN31Jun 30, 2017
HCN455Jun 30, 2017
HDAC430Jun 30, 2017
HERC21Jun 30, 2017
HES74Jun 30, 2017
HESX17Jun 30, 2017
HEXA22Jun 30, 2017
HEXB30Jun 30, 2017
HFE4Jun 30, 2017
HGF6Jun 30, 2017
HGSNAT11Jun 30, 2017
HLCS3Jun 30, 2017
HMBS2Jun 30, 2017
HMCN18Jun 30, 2017
HMGCL7Jun 30, 2017
HMGCS21Jun 30, 2017
HMOX11Jun 30, 2017
HNF1A9Jun 30, 2017
HNF1B32Jun 30, 2017
HNF4A1Jun 30, 2017
HOMER24Jun 30, 2017
HOXA11Jun 30, 2017
HOXB11Jun 30, 2017
HOXD136Jun 30, 2017
HPGD2Jun 30, 2017
HPRT114Jun 30, 2017
HPS118Jun 30, 2017
HPS31Jun 30, 2017
HPS413Jun 30, 2017
HPS52Jun 30, 2017
HPS69Jun 30, 2017
HRAS4Jun 30, 2017
HSD17B103Jun 30, 2017
HSD17B424Jun 30, 2017
HSD3B735Jun 30, 2017
HSF41Jun 30, 2017
HSPB16Jun 30, 2017
HSPB31Jun 30, 2017
HSPB81Jun 30, 2017
HSPG2104Jun 30, 2017
HUWE115Jun 30, 2017
HYLS12Jun 30, 2017
ICK9Jun 30, 2017
ICOS2Jun 30, 2017
IDH3B9Jun 30, 2017
IDS29Jun 30, 2017
IDUA70Jun 30, 2017
IFIH12Jun 30, 2017
IFITM57Jun 30, 2017
IFT12224Jun 30, 2017
IFT14026Jun 30, 2017
IFT8015Jun 30, 2017
IGBP12Jun 30, 2017
IGF13Jun 30, 2017
IGF1R37Jun 30, 2017
IGHMBP244Jun 30, 2017
IHH8Jun 30, 2017
IL10RA11Jun 30, 2017
IL12RB11Jun 30, 2017
IL1RAPL11Jun 30, 2017
IL2RA5Jun 30, 2017
ILDR19Jun 30, 2017
IMPDH118Jun 30, 2017
IMPG218Jun 30, 2017
INF28Jun 30, 2017
INPP5E3Jun 30, 2017
INS1Jun 30, 2017
INSR29Jun 30, 2017
INVS70Jun 30, 2017
IQCB118Jun 30, 2017
IQSEC217Jun 30, 2017
ISPD86Jun 30, 2017
ITGA748Jun 30, 2017
ITGA93Jun 30, 2017
ITGAM1Jun 30, 2017
ITGB41Jun 30, 2017
ITPR111Jun 30, 2017
IVD22Jun 30, 2017
JAG1114Jun 30, 2017
JCAD2Jun 30, 2017
JPH27Jun 30, 2017
JUP2Jun 30, 2017
KANK16Jun 30, 2017
KANSL13Jun 30, 2017
KARS1Jun 30, 2017
KAT6A1Jun 30, 2017
KAT6B2Jun 30, 2017
KBTBD131Jun 30, 2017
KCNA19Jun 30, 2017
KCNA53Jun 30, 2017
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TMEM23710Jun 30, 2017
TMEM432Jun 30, 2017
TMEM6723Jun 30, 2017
TMEM702Jun 30, 2017
TMIE4Jun 30, 2017
TMPRSS311Jun 30, 2017
TNC1Jun 30, 2017
TNFRSF11A19Jun 30, 2017
TNFRSF11B9Jun 30, 2017
TNFRSF13B1Jun 30, 2017
TNFRSF1A1Jun 30, 2017
TNFSF1110Jun 30, 2017
TNNC11Jun 30, 2017
TNNI210Jun 30, 2017
TNNI38Jun 30, 2017
TNNT17Jun 30, 2017
TNNT24Jun 30, 2017
TNPO365Jun 30, 2017
TNXB3Jun 30, 2017
TOPORS29Jun 30, 2017
TOR1A2Jun 30, 2017
TP5315Jun 30, 2017
TP6313Jun 30, 2017
TPK11Jun 30, 2017
TPM11Jun 30, 2017
TPM215Jun 30, 2017
TPM33Jun 30, 2017
TPMT2Jun 30, 2017
TPO1Jun 30, 2017
TPP127Jun 30, 2017
TPRN14Jun 30, 2017
TRAPPC112Jun 30, 2017
TRAPPC91Jun 30, 2017
TRDN3Jun 30, 2017
TREM213Jun 30, 2017
TREX15Jun 30, 2017
TRIM3283Jun 30, 2017
TRIM3710Jun 30, 2017
TRIO4Jun 30, 2017
TRIOBP46Jun 30, 2017
TRIP1126Jun 30, 2017
TRMU31Jun 30, 2017
TRPC62Jun 30, 2017
TRPM131Jun 30, 2017
TRPM41Jun 30, 2017
TRPS111Jun 30, 2017
TRPV419Jun 30, 2017
TSC149Jun 30, 2017
TSC2101Jun 30, 2017
TSEN27Jun 30, 2017
TSEN344Jun 30, 2017
TSEN5435Jun 30, 2017
TSHR1Jun 30, 2017
TSPAN122Jun 30, 2017
TSPAN71Jun 30, 2017
TSPEAR2Jun 30, 2017
TTBK23Jun 30, 2017
TTC195Jun 30, 2017
TTC21B18Jun 30, 2017
TTC3723Jun 30, 2017
TTC7A3Jun 30, 2017
TTC83Jun 30, 2017
TTLL53Jun 30, 2017
TTN2749Jun 30, 2017
TTN-AS11Jun 30, 2017
TTPA6Jun 30, 2017
TTR7Jun 30, 2017
TUBA1A5Jun 30, 2017
TUBA83Jun 30, 2017
TUBB1Jun 30, 2017
TUBB2B2Jun 30, 2017
TUBB35Jun 30, 2017
TUBB4A1Jun 30, 2017
TUBGCP41Jun 30, 2017
TULP120Jun 30, 2017
TUSC310Jun 30, 2017
TWIST11Jun 30, 2017
TWNK6Jun 30, 2017
TYK21Jun 30, 2017
TYMP3Jun 30, 2017
TYR30Jun 30, 2017
TYROBP2Jun 30, 2017
TYRP18Jun 30, 2017
UACA1Jun 30, 2017
UBA11Jun 30, 2017
UBE2A1Jun 30, 2017
UBE3A29Jun 30, 2017
UBR11Jun 30, 2017
UGT1A145Jun 30, 2017
UMOD15Jun 30, 2017
UMPS1Jun 30, 2017
UNC1193Jun 30, 2017
UNC13D1Jun 30, 2017
UNC802Jun 30, 2017
UPB11Jun 30, 2017
UPF3B4Jun 30, 2017
UQCRB2Jun 30, 2017
UROS1Jun 30, 2017
USH1C35Jun 30, 2017
USH1G10Jun 30, 2017
USH2A244Jun 30, 2017
VAMP11Jun 30, 2017
VANGL13Jun 30, 2017
VARS21Jun 30, 2017
VAX14Jun 30, 2017
VCAN31Jun 30, 2017
VCL10Jun 30, 2017
VCP20Jun 30, 2017
VEGFA1Jun 30, 2017
VHL16Jun 30, 2017
VIPAS3931Jun 30, 2017
VKORC12Jun 30, 2017
VLDLR9Jun 30, 2017
VPS13B145Jun 30, 2017
VPS33B34Jun 30, 2017
VPS37A5Jun 30, 2017
VRK16Jun 30, 2017
VSX212Jun 30, 2017
VWF22Jun 30, 2017
WAS4Jun 30, 2017
WASHC41Jun 30, 2017
WASHC58Jun 30, 2017
WDPCP6Jun 30, 2017
WDR111Jun 30, 2017
WDR1912Jun 30, 2017
WDR3531Jun 30, 2017
WDR454Jun 30, 2017
WDR6266Jun 30, 2017
WDR733Jun 30, 2017
WFS175Jun 30, 2017
WHRN34Jun 30, 2017
WIPF11Jun 30, 2017
WNK118Jun 30, 2017
WNT10A1Jun 30, 2017
WNT33Jun 30, 2017
WNT5A7Jun 30, 2017
WNT7A9Jun 30, 2017
WRN34Jun 30, 2017
WT18Jun 30, 2017
WWOX1Jun 30, 2017
XIAP3Jun 30, 2017
XPNPEP32Jun 30, 2017
XRCC21Jun 30, 2017
XRCC41Jun 30, 2017
XYLT12Jun 30, 2017
YARS4Jun 30, 2017
ZAP703Jun 30, 2017
ZCCHC121Jun 30, 2017
ZDHHC153Jun 30, 2017
ZDHHC92Jun 30, 2017
ZEB11Jun 30, 2017
ZEB269Jun 30, 2017
ZFPM21Jun 30, 2017
ZFYVE2621Jun 30, 2017
ZFYVE276Jun 30, 2017
ZIC27Jun 30, 2017
ZIC36Jun 30, 2017
ZMPSTE247Jun 30, 2017
ZMYM34Jun 30, 2017
ZNF3356Jun 30, 2017
ZNF414Jun 30, 2017
ZNF4201Jun 30, 2017
ZNF42320Jun 30, 2017
ZNF46960Jun 30, 2017
ZNF5137Jun 30, 2017
ZNF6742Jun 30, 2017
ZNF7111Jun 9, 2015
ZNF811Jun 30, 2017

Condition

NameSubmissionsLast Updated
2-methyl-3-hydroxybutyric aciduria1Jun 30, 2017
21-hydroxylase deficiency3Jun 30, 2017
22q13.3 deletion syndrome1Jun 30, 2017
3 Methylcrotonyl-CoA carboxylase 1 deficiency16Jun 30, 2017
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Jun 30, 2017
3-methylcrotonyl CoA carboxylase 2 deficiency9Jun 30, 2017
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia1Jun 30, 2017
ADULT syndrome1Jun 30, 2017
ATR-X syndrome3Jun 30, 2017
Aarskog syndrome8Jun 30, 2017
Achondrogenesis, type IB2Jun 30, 2017
Achondrogenesis, type II2Jun 30, 2017
Achondroplasia5Jun 30, 2017
Achromatopsia 24Jun 30, 2017
Achromatopsia 35Jun 30, 2017
Acrocallosal syndrome, Schinzel type1Jun 30, 2017
Acromicric dysplasia1Jun 30, 2017
Acute myeloid leukemia1Jun 30, 2017
Acute neuronopathic Gaucher's disease1Jun 30, 2017
Adams-Oliver syndrome 22Jun 30, 2017
Adenylosuccinate lyase deficiency2Jun 30, 2017
Adolescent nephronophthisis9Jun 30, 2017
Adrenoleukodystrophy32Jun 30, 2017
Adult hypophosphatasia7Jun 30, 2017
Adult junctional epidermolysis bullosa2Jun 30, 2017
Afibrinogenemia1Jun 30, 2017
Age-related macular degeneration 21Jun 30, 2017
Age-related macular degeneration 31Jun 30, 2017
Age-related macular degeneration 61Jun 30, 2017
Aicardi Goutieres syndrome 13Jun 30, 2017
Aicardi Goutieres syndrome 21Jun 30, 2017
Aicardi Goutieres syndrome 31Jun 30, 2017
Aicardi-Goutieres syndrome 62Jun 30, 2017
Alagille syndrome 133Jun 30, 2017
Alagille syndrome 25Jun 30, 2017
Albinism, oculocutaneous, type VII1Jun 30, 2017
Allan-Herndon-Dudley syndrome6Jun 30, 2017
Alpha-1-antitrypsin deficiency3Jun 30, 2017
Alport syndrome, X-linked recessive1Jun 30, 2017
Alport syndrome, autosomal recessive1Jun 30, 2017
Alstrom syndrome2Jun 30, 2017
Alternating hemiplegia of childhood 21Jun 30, 2017
Amelogenesis imperfecta, hypomaturation type, IIA11Jun 30, 2017
Amyloidogenic transthyretin amyloidosis1Jun 30, 2017
Amyotrophic lateral sclerosis type 12Jun 30, 2017
Amyotrophic lateral sclerosis type 42Jun 30, 2017
Androgen resistance syndrome1Nov 3, 2016
Anemia, nonspherocytic hemolytic, due to G6PD deficiency23Jun 30, 2017
Angelman syndrome6Jun 30, 2017
Aniridia 111Jun 30, 2017
Aortic aneurysm, ascending, and dissection1Jun 30, 2017
Argininosuccinate lyase deficiency5Jun 30, 2017
Arrhythmogenic right ventricular cardiomyopathy, type 93Jun 30, 2017
Arterial calcification of infancy1Jun 30, 2017
Arthrogryposis renal dysfunction cholestasis syndrome4Jun 30, 2017
Arthrogryposis, renal dysfunction, and cholestasis 21Jun 30, 2017
Aspartylglucosaminuria2Jun 30, 2017
Ataxia-telangiectasia syndrome4Jun 30, 2017
Atrophia bulborum hereditaria4Jun 30, 2017
Autism, susceptibility to, 182Jun 30, 2017
Autosomal dominant hypohidrotic ectodermal dysplasia1Jun 30, 2017
Autosomal dominant optic atrophy plus syndrome1Jun 30, 2017
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11Nov 3, 2016
Autosomal recessive centronuclear myopathy1Jun 30, 2017
Autosomal recessive congenital ichthyosis 11Jun 30, 2017
Autosomal recessive congenital ichthyosis 61Jun 30, 2017
Autosomal recessive cutis laxa type 1B1Jun 30, 2017
Autosomal recessive cutis laxa type 2B1Jun 30, 2017
Autosomal recessive cutis laxa type IA1Jun 30, 2017
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome1Jun 30, 2017
Autosomal recessive hypophosphatemic bone disease1Jun 30, 2017
Autosomal recessive polycystic kidney disease57Jun 30, 2017
Axenfeld-Rieger syndrome type 31Nov 3, 2016
Bainbridge-Ropers syndrome4Jun 30, 2017
Bannayan-Riley-Ruvalcaba syndrome1Jun 30, 2017
Bardet-Biedl syndrome3Jun 30, 2017
Bardet-Biedl syndrome 107Jun 30, 2017
Bardet-Biedl syndrome 121Jun 30, 2017
Bardet-Biedl syndrome 161Jun 30, 2017
Bardet-Biedl syndrome 171Jun 30, 2017
Bardet-Biedl syndrome 25Jun 30, 2017
Bardet-Biedl syndrome 73Jun 30, 2017
Bardet-Biedl syndrome 92Jun 30, 2017
Bare lymphocyte syndrome 21Jun 30, 2017
Becker muscular dystrophy199Jun 30, 2017
Beckwith-Wiedemann syndrome1Jun 30, 2017
Benign familial neonatal seizures 18Jun 30, 2017
Benign familial neonatal-infantile seizures3Jun 30, 2017
Benign recurrent intrahepatic cholestasis 216Jun 30, 2017
Benign scapuloperoneal muscular dystrophy with cardiomyopathy13Jun 30, 2017
Bent bone dysplasia syndrome1Jun 30, 2017
Bernard Soulier syndrome1Jun 30, 2017
Bestrophinopathy, autosomal recessive2Jun 30, 2017
Bethlem myopathy 1110Jun 30, 2017
Bietti crystalline corneoretinal dystrophy2Jun 30, 2017
Bifunctional peroxisomal enzyme deficiency2Jun 30, 2017
Bile acid synthesis defect, congenital, 14Jun 30, 2017
Bile acid synthesis defect, congenital, 23Jun 30, 2017
Biotin-thiamine-responsive basal ganglia disease1Nov 3, 2016
Biotinidase deficiency14Jun 30, 2017
Blepharophimosis, ptosis, and epicanthus inversus1Jun 30, 2017
Bloom syndrome3Jun 30, 2017
Brachydactyly type E11Jun 30, 2017
Breast-ovarian cancer, familial 113Jun 30, 2017
Breast-ovarian cancer, familial 216Jun 30, 2017
Breast-ovarian cancer, familial 42Jun 30, 2017
Bronchiectasis with or without elevated sweat chloride 11Jun 30, 2017
Brown-Vialetto-Van Laere syndrome 22Jun 30, 2017
Bull's eye macular dystrophy1Jun 30, 2017
C-like syndrome1Jun 30, 2017
CHARGE association20Jun 30, 2017
COACH syndrome1Jun 30, 2017
COG7 congenital disorder of glycosylation1Nov 3, 2016
Camptomelic dysplasia2Jun 30, 2017
Carbohydrate-deficient glycoprotein syndrome type I17Jun 30, 2017
Cardiofaciocutaneous syndrome 12Jun 30, 2017
Cardiofaciocutaneous syndrome 31Jun 30, 2017
Carnitine palmitoyltransferase I deficiency6Jun 30, 2017
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced4Jun 30, 2017
Cerebellar ataxia infantile with progressive external ophthalmoplegia4Jun 30, 2017
Cerebellar ataxia, nonprogressive, with mental retardation1Jun 30, 2017
Cerebral cavernous malformation2Jun 30, 2017
Cerebral cavernous malformations 21Jun 30, 2017
Cerebral folate deficiency2Jun 30, 2017
Ceroid lipofuscinosis neuronal 13Jun 30, 2017
Ceroid lipofuscinosis neuronal 21Jun 30, 2017
Ceroid lipofuscinosis neuronal 52Jun 30, 2017
Ceroid lipofuscinosis neuronal 61Jun 30, 2017
Ceroid lipofuscinosis neuronal 71Jun 30, 2017
Charcot-Marie-Tooth disease, axonal, type 2S2Jun 30, 2017
Charcot-Marie-Tooth disease, demyelinating, type 1b3Jun 30, 2017
Charcot-Marie-Tooth disease, demyelinating, type 4f1Jun 30, 2017
Charcot-Marie-Tooth disease, type 2A2A4Jun 30, 2017
Charcot-Marie-Tooth disease, type 4B21Jun 30, 2017
Charcot-Marie-Tooth disease, type 4C1Jun 30, 2017
Childhood hypophosphatasia3Jun 30, 2017
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1Jun 30, 2017
Cholecystitis2Jun 30, 2017
Cholestanol storage disease7Jun 30, 2017
Cholestasis of pregnancy1Jun 30, 2017
Cholestasis, benign recurrent intrahepatic 13Jun 30, 2017
Cholestasis, intrahepatic, of pregnancy 32Jun 30, 2017
Chondroectodermal dysplasia3Jun 30, 2017
Choroidal dystrophy, central areolar 21Jun 30, 2017
Choroideremia2Jun 30, 2017
Christianson syndrome2Jun 30, 2017
Chromosome 9q deletion syndrome1Jun 30, 2017
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21Jun 30, 2017
Chudley-McCullough syndrome1Jun 30, 2017
Chylomicron retention disease1Jun 30, 2017
Ciliary dyskinesia, primary, 111Jun 30, 2017
Ciliary dyskinesia, primary, 121Jun 30, 2017
Ciliary dyskinesia, primary, 141Jun 30, 2017
Ciliary dyskinesia, primary, 154Jun 30, 2017
Ciliary dyskinesia, primary, 171Jun 30, 2017
Ciliary dyskinesia, primary, 211Jun 30, 2017
Ciliary dyskinesia, primary, 31Jun 30, 2017
Ciliary dyskinesia, primary, 74Jun 30, 2017
Ciliary dyskinesia, primary, 91Jun 30, 2017
Cirrhosis due to liver phosphorylase kinase deficiency1Jun 30, 2017
Citrullinemia type I12Jun 30, 2017
Citrullinemia type II2Jun 30, 2017
Cockayne syndrome B2Jun 30, 2017
Cockayne syndrome type A2Jun 30, 2017
Coenzyme Q10 deficiency, primary, 42Jun 30, 2017
Coffin-Lowry syndrome2Jun 30, 2017
Coffin-Siris syndrome 13Jun 30, 2017
Cohen syndrome7Jun 30, 2017
Cole disease1Jun 30, 2017
Combined oxidative phosphorylation deficiency 121Jun 30, 2017
Combined oxidative phosphorylation deficiency 131Jun 30, 2017
Combined oxidative phosphorylation deficiency 81Nov 3, 2016
Cone-rod dystrophy 111Jun 30, 2017
Cone-rod dystrophy 122Jun 30, 2017
Cone-rod dystrophy 132Jun 30, 2017
Cone-rod dystrophy 152Jun 30, 2017
Cone-rod dystrophy 193Jun 30, 2017
Cone-rod dystrophy 36Jun 30, 2017
Cone-rod dystrophy 62Jun 30, 2017
Cone-rod dystrophy X-linked 31Jun 30, 2017
Congenital bilateral absence of the vas deferens8Jun 30, 2017
Congenital disorder of deglycosylation1Jun 30, 2017
Congenital disorder of glycosylation type 1D1Jun 30, 2017
Congenital disorder of glycosylation type 1H2Jun 30, 2017
Congenital disorder of glycosylation type 1K6Jun 30, 2017
Congenital disorder of glycosylation type 1M2Jun 30, 2017
Congenital disorder of glycosylation type 1Q3Jun 30, 2017
Congenital disorder of glycosylation type 1t1Jun 30, 2017
Congenital disorder of glycosylation type 2L3Jun 30, 2017
Congenital disorder of glycosylation type Ir2Jun 30, 2017
Congenital dyserythropoietic anemia, type II1Jun 30, 2017
Congenital erythropoietic porphyria1Jun 30, 2017
Congenital generalized lipodystrophy type 11Jun 30, 2017
Congenital glucose-galactose malabsorption1Jun 30, 2017
Congenital hyperammonemia, type I1Jun 30, 2017
Congenital muscular dystrophy, LMNA-related1Jun 30, 2017
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B56Jun 30, 2017
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A56Jun 30, 2017
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A23Jun 30, 2017
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A74Jun 30, 2017
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B12Jun 30, 2017
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B23Jun 30, 2017
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B31Jun 30, 2017
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41Jun 30, 2017
Congenital myasthenic syndrome 1B, fast-channel1Jun 30, 2017
Congenital myopathy with fiber type disproportion3Jun 30, 2017
Congenital myotonia, autosomal recessive form2Jun 30, 2017
Congenital stationary night blindness, type 1A2Jun 30, 2017
Congenital stationary night blindness, type 1B2Jun 30, 2017
Congenital stationary night blindness, type 1C2Jun 30, 2017
Congenital stationary night blindness, type 1E3Jun 30, 2017
Congenital stationary night blindness, type 2A3Jun 30, 2017
Corneal endothelial dystrophy type 21Jun 30, 2017
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility3Jun 30, 2017
Cornelia de Lange syndrome 119Jun 30, 2017
Cortical malformations, occipital1Jun 30, 2017
Costello syndrome1Jun 30, 2017
Cowden syndrome 12Jun 30, 2017
Cowden syndrome 51Jun 30, 2017
Cranioectodermal dysplasia 23Jun 30, 2017
Crigler Najjar syndrome, type 15Jun 30, 2017
Crigler-Najjar syndrome, type II5Jun 30, 2017
Crouzon syndrome1Jun 30, 2017
Cryptophthalmos syndrome7Jun 30, 2017
Culler-Jones syndrome1Jun 30, 2017
Cutaneous malignant melanoma 11Nov 3, 2016
Cutis laxa with osteodystrophy5Jun 30, 2017
Cutis laxa, autosomal dominant 11Jun 30, 2017
Cutis laxa, autosomal dominant 21Jun 30, 2017
Cystic fibrosis74Jun 30, 2017
Cystinuria2Jun 30, 2017
Danon disease1Jun 30, 2017
Deafness, autosomal dominant 101Jun 30, 2017
Deafness, autosomal dominant 122Jun 30, 2017
Deafness, autosomal dominant 221Jun 30, 2017
Deafness, autosomal dominant 251Jun 30, 2017
Deafness, autosomal dominant 281Jun 30, 2017
Deafness, autosomal dominant 3a27Jun 30, 2017
Deafness, autosomal dominant 401Jun 30, 2017
Deafness, autosomal dominant 641Jun 30, 2017
Deafness, autosomal recessive 161Jun 30, 2017
Deafness, autosomal recessive 182Jun 30, 2017
Deafness, autosomal recessive 1A32Jun 30, 2017
Deafness, autosomal recessive 214Jun 30, 2017
Deafness, autosomal recessive 222Jun 30, 2017
Deafness, autosomal recessive 283Jun 30, 2017
Deafness, autosomal recessive 291Jun 30, 2017
Deafness, autosomal recessive 37Jun 30, 2017
Deafness, autosomal recessive 302Jun 30, 2017
Deafness, autosomal recessive 311Jun 30, 2017
Deafness, autosomal recessive 371Jun 30, 2017
Deafness, autosomal recessive 591Jun 30, 2017
Deafness, autosomal recessive 661Jun 30, 2017
Deafness, autosomal recessive 72Jun 30, 2017
Deafness, autosomal recessive 701Jun 30, 2017
Deafness, autosomal recessive 777Jun 30, 2017
Deafness, autosomal recessive 83Jun 30, 2017
Deafness, autosomal recessive 841Jun 30, 2017
Deafness, autosomal recessive 84b3Jun 30, 2017
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Jun 30, 2017
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase61Jun 30, 2017
Deficiency of acetyl-CoA acetyltransferase13Jun 30, 2017
Deficiency of alpha-mannosidase3Jun 30, 2017
Deficiency of butyryl-CoA dehydrogenase1Jun 30, 2017
Deficiency of hydroxymethylglutaryl-CoA lyase2Jun 30, 2017
Deficiency of iodide peroxidase1Jun 30, 2017
Deficiency of isobutyryl-CoA dehydrogenase3Jun 30, 2017
Dejerine-Sottas disease3Jun 30, 2017
Dent disease 25Jun 30, 2017
Desbuquois dysplasia 14Jun 30, 2017
Diabetes mellitus AND insipidus with optic atrophy AND deafness2Jun 30, 2017
Diabetes mellitus type 21Jun 30, 2017
Diastrophic dysplasia2Jun 30, 2017
Digitorenocerebral syndrome1Jun 30, 2017
Dihydropyrimidinase deficiency1Jun 30, 2017
Dihydropyrimidine dehydrogenase deficiency2Jun 30, 2017
Dilated cardiomyopathy 1A9Jun 30, 2017
Dilated cardiomyopathy 1F2Jun 30, 2017
Dilated cardiomyopathy 1G40Jun 30, 2017
Dilated cardiomyopathy 1I2Jun 30, 2017
Dilated cardiomyopathy 1Y1Jun 30, 2017
Dilated cardiomyopathy 3B122Jun 30, 2017
Dilated cardiomyopathy with woolly hair and keratoderma1Jun 30, 2017
Distal arthrogryposis type 2B1Jun 30, 2017
Distal arthrogryposis type 5D1Jun 30, 2017
Distal arthrogryposis type 81Jun 30, 2017
Distal myopathy Markesbery-Griggs type39Jun 30, 2017
Distal myopathy, Tateyama type1Jun 30, 2017
Dominant hereditary optic atrophy29Jun 30, 2017
Dopamine beta hydroxylase deficiency1Jun 30, 2017
Doyne honeycomb retinal dystrophy1Jun 30, 2017
Duane-radial ray syndrome1Jun 30, 2017
Dubin-Johnson syndrome20Jun 30, 2017
Duchenne muscular dystrophy268Jun 30, 2017
Dyggve-Melchior-Clausen syndrome2Jun 30, 2017
Dysostosis multiplex24Jun 30, 2017
Dystonia 102Jun 30, 2017
Dystonia 121Jun 30, 2017
Early infantile epileptic encephalopathy 102Nov 3, 2016
Early infantile epileptic encephalopathy 112Jun 30, 2017
Early infantile epileptic encephalopathy 131Jun 30, 2017
Early infantile epileptic encephalopathy 211Jun 30, 2017
Early infantile epileptic encephalopathy 46Jun 30, 2017
Early infantile epileptic encephalopathy 52Jun 30, 2017
Early infantile epileptic encephalopathy 78Jun 30, 2017
Early infantile epileptic encephalopathy 93Jun 30, 2017
Ectopia lentis et pupillae1Jun 30, 2017
Ectopia lentis, isolated autosomal recessive1Jun 30, 2017
Ectopia lentis, isolated, autosomal dominant2Jun 30, 2017
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31Jun 30, 2017
Ehlers-Danlos syndrome progeroid type1Jun 30, 2017
Ehlers-Danlos syndrome, classic type6Jun 30, 2017
Ehlers-Danlos syndrome, hydroxylysine-deficient3Jun 30, 2017
Ehlers-Danlos syndrome, musculocontractural type2Jun 30, 2017
Ehlers-Danlos syndrome, procollagen proteinase deficient1Jun 30, 2017
Ehlers-Danlos syndrome, type 41Jun 30, 2017
Eichsfeld type congenital muscular dystrophy9Jun 30, 2017
Emery-Dreifuss muscular dystrophy 1, X-linked4Jun 30, 2017
Emery-Dreifuss muscular dystrophy 4, autosomal dominant11Jun 30, 2017
Endplate acetylcholinesterase deficiency1Jun 30, 2017
Enlarged vestibular aqueduct3Jun 30, 2017
Epidermolysa bullosa simplex and limb girdle muscular dystrophy3Jun 30, 2017
Epidermolysis bullosa simplex, autosomal recessive 21Jun 30, 2017
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1Jun 30, 2017
Epilepsy, focal, with speech disorder and with or without mental retardation4Jun 30, 2017
Epilepsy, idiopathic generalized, susceptibility to, 126Jun 30, 2017
Epileptic encephalopathy, early infantile, 12Jun 30, 2017
Epileptic encephalopathy, early infantile, 191Jun 30, 2017
Epileptic encephalopathy, early infantile, 281Jun 30, 2017
Episodic ataxia type 21Jun 30, 2017
Exudative vitreoretinopathy 11Jun 30, 2017
FG syndrome1Jun 30, 2017
FG syndrome 21Nov 3, 2016
FG syndrome 42Jun 30, 2017
Fabry disease113Jun 30, 2017
Facioscapulohumeral muscular dystrophy 214Jun 30, 2017
Familial Mediterranean fever11Jun 30, 2017
Familial X-linked hypophosphatemic vitamin D refractory rickets1Jun 30, 2017
Familial adenomatous polyposis 115Jun 30, 2017
Familial cancer of breast2Jun 30, 2017
Familial dysautonomia1Jun 30, 2017
Familial exudative vitreoretinopathy, X-linked1Jun 30, 2017
Familial hypertrophic cardiomyopathy 15Jun 30, 2017
Familial hypertrophic cardiomyopathy 43Jun 30, 2017
Familial hypertrophic cardiomyopathy 937Jun 30, 2017
Familial hypoplastic, glomerulocystic kidney1Jun 30, 2017
Familial infantile myasthenia3Jun 30, 2017
Familial juvenile gout1Jun 30, 2017
Familial mediterranean fever, autosomal dominant1Jun 30, 2017
Familial medullary thyroid carcinoma4Jun 30, 2017
Familial partial lipodystrophy 21Jun 30, 2017
Fanconi anemia, complementation group C1Jun 30, 2017
Fanconi anemia, complementation group L1Nov 3, 2016
Fanconi-Bickel syndrome1Jun 30, 2017
Feingold syndrome 11Jun 30, 2017
Fibrochondrogenesis 23Jun 30, 2017
Fibrous dysplasia of jaw1Jun 30, 2017
Finnish congenital nephrotic syndrome1Jun 30, 2017
Floating-Harbor syndrome2Jun 30, 2017
Focal segmental glomerulosclerosis 61Jun 30, 2017
Freeman-Sheldon syndrome1Jun 30, 2017
Fucosidosis1Jun 30, 2017
Fukuyama congenital muscular dystrophy2Jun 30, 2017
Fumarase deficiency2Jun 30, 2017
GLUT1 deficiency syndrome 18Jun 30, 2017
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY3Jun 30, 2017
GM1 gangliosidosis type 221Jun 30, 2017
Galactosylceramide beta-galactosidase deficiency16Jun 30, 2017
Gangliosidosis GM1 type 320Jun 30, 2017
Gaucher's disease, type 133Jun 30, 2017
Gaze palsy, familial horizontal, with progressive scoliosis1Jun 30, 2017
Geleophysic dysplasia 21Jun 30, 2017
Generalized arterial calcification of infancy 21Jun 30, 2017
Generalized epilepsy with febrile seizures plus, type 12Jun 30, 2017
Generalized epilepsy with febrile seizures plus, type 232Jun 30, 2017
Ghosal syndrome1Jun 30, 2017
Giant axonal neuropathy1Jun 30, 2017
Glaucoma 3, primary congenital, A4Jun 30, 2017
Glucose-6-phosphate transport defect2Jun 30, 2017
Glutaric aciduria, type 112Jun 30, 2017
Glutaric aciduria, type 28Jun 30, 2017
Glycogen storage disease IXb1Jun 30, 2017
Glycogen storage disease IXc1Jun 30, 2017
Glycogen storage disease type 1A8Jun 30, 2017
Glycogen storage disease type III16Jun 30, 2017
Glycogen storage disease type IXa11Jun 30, 2017
Glycogen storage disease type X1Jun 30, 2017
Glycogen storage disease, type II49Jun 30, 2017
Glycogen storage disease, type IV1Jun 30, 2017
Glycogen storage disease, type V10Jun 30, 2017
Glycogen storage disease, type VI2Jun 30, 2017
Goldberg-Shprintzen megacolon syndrome1Jun 30, 2017
Gorlin syndrome2Jun 30, 2017
Haim-Munk syndrome1Jun 30, 2017
Hajdu-Cheney syndrome2Jun 30, 2017
Hb SS disease3Jun 30, 2017
Hecht syndrome13Mar 27, 2017
Hemophagocytic lymphohistiocytosis, familial, 21Jun 30, 2017
Hemophagocytic lymphohistiocytosis, familial, 31Jun 30, 2017
Hereditary factor VIII deficiency disease1Jun 30, 2017
Hereditary factor XI deficiency disease6Jun 30, 2017
Hereditary fructosuria5Jun 30, 2017
Hereditary liability to pressure palsies1Jun 30, 2017
Hereditary myopathy with early respiratory failure37Jun 30, 2017
Hereditary nonpolyposis colorectal cancer type 41Jun 30, 2017
Hereditary nonpolyposis colorectal cancer type 52Jun 30, 2017
Hereditary pancreatitis57Jun 30, 2017
Hereditary sensory and autonomic neuropathy type IIA1Jun 30, 2017
Hermansky-Pudlak syndrome 11Nov 3, 2016
Hermansky-Pudlak syndrome 31Jun 30, 2017
Hermansky-Pudlak syndrome 41Jun 30, 2017
Heterotaxy, visceral, X-linked1Jun 30, 2017
Histiocytic medullary reticulosis1Jun 30, 2017
Holocarboxylase synthetase deficiency1Jun 30, 2017
Holoprosencephaly 31Jun 30, 2017
Homocysteinemia due to MTHFR deficiency1Jun 30, 2017
Homocystinuria due to CBS deficiency16Jun 30, 2017
Hutchinson-Gilford syndrome1Jun 30, 2017
Hydrocephalus, congenital, 2, with or without brain or eye anomalies1Jun 30, 2017
Hyperammonemia, type III1Jun 30, 2017
Hyperimmunoglobulin D with periodic fever2Jun 30, 2017
Hypermanganesemia with dystonia 11Jun 30, 2017
Hyperparathyroidism 11Jun 30, 2017
Hyperparathyroidism 21Jun 30, 2017
Hyperphosphatasia with mental retardation syndrome 22Jun 30, 2017
Hypertrophic cardiomyopathy1Jun 30, 2017
Hypochondroplasia2Jun 30, 2017
Hypoglycemia with deficiency of glycogen synthetase in the liver1Jun 30, 2017
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1Jun 30, 2017
Hypogonadotropic hypogonadism 4 with or without anosmia1Jun 30, 2017
Hypohidrotic X-linked ectodermal dysplasia3Jun 30, 2017
Hypokalemic periodic paralysis 11Jun 30, 2017
Hypomyelination and Congenital Cataract1Jun 30, 2017
Hypophosphatemic rickets, autosomal recessive, 21Jun 30, 2017
I cell disease16Jun 30, 2017
IVIC syndrome1Jun 30, 2017
Immunodeficiency 301Jun 30, 2017
Inclusion body myopathy 225Jun 30, 2017
Infantile GM1 gangliosidosis24Jun 30, 2017
Infantile convulsions and paroxysmal choreoathetosis, familial2Jun 30, 2017
Infantile cortical hyperostosis1Jun 30, 2017
Infantile hypophosphatasia5Jun 30, 2017
Infantile nephronophthisis2Jun 30, 2017
Infertility associated with multi-tailed spermatozoa and excessive DNA1Jun 30, 2017
Inflammatory bowel disease 28, autosomal recessive1Jun 30, 2017
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Jun 30, 2017
Insulin-like growth factor 1 resistance to1Jun 30, 2017
Interleukin 2 receptor, alpha, deficiency of1Jun 30, 2017
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked2Jun 30, 2017
Intrahepatic cholestasis1Jun 30, 2017
Iodotyrosyl coupling defect2Jun 30, 2017
Irido-corneo-trabecular dysgenesis2Jun 30, 2017
Isovaleryl-CoA dehydrogenase deficiency9Jun 30, 2017
Jankovic Rivera syndrome1Jun 30, 2017
Joubert syndrome 173Jun 30, 2017
Joubert syndrome 211Jun 30, 2017
Joubert syndrome 232Jun 30, 2017
Joubert syndrome 514Jun 30, 2017
Joubert syndrome 63Jun 30, 2017
Joubert syndrome 72Jun 30, 2017
Joubert syndrome 81Jun 30, 2017
Joubert syndrome 99Jun 30, 2017
Junctional epidermolysis bullosa gravis of Herlitz1Jun 30, 2017
Juvenile macular degeneration and hypotrichosis1Jun 30, 2017
Juvenile neuronal ceroid lipofuscinosis3Jun 30, 2017
Kabuki syndrome 170Jun 30, 2017
Kabuki syndrome 21Jun 30, 2017
Kallmann syndrome 21Jun 30, 2017
Kartagener syndrome1Nov 3, 2016
Keratitis-ichthyosis-deafness syndrome, autosomal dominant1Jun 30, 2017
Keutel syndrome1Jun 30, 2017
Kniest dysplasia2Jun 30, 2017
Knobloch syndrome 11Jun 30, 2017
LEOPARD syndrome 12Jun 30, 2017
LEOPARD syndrome 21Jun 30, 2017
Lafora disease1Jun 30, 2017
Langer mesomelic dysplasia syndrome1Jun 30, 2017
Leber congenital amaurosis 14Jun 30, 2017
Leber congenital amaurosis 1024Jun 30, 2017
Leber congenital amaurosis 132Jun 30, 2017
Leber congenital amaurosis 151Jun 30, 2017
Leber congenital amaurosis 22Jun 30, 2017
Leber congenital amaurosis 41Jun 30, 2017
Leber congenital amaurosis 51Jun 30, 2017
Leber congenital amaurosis 62Jun 30, 2017
Leber congenital amaurosis 71Jun 30, 2017
Leber congenital amaurosis 86Jun 30, 2017
Left ventricular noncompaction 61Jun 30, 2017
Leigh syndrome1Jun 30, 2017
Leprechaunism syndrome1Jun 30, 2017
Leri Weill dyschondrosteosis2Jun 30, 2017
Lesch-Nyhan syndrome5Jun 30, 2017
Lethal Kniest-like syndrome1Jun 30, 2017
Lethal tight skin contracture syndrome2Jun 30, 2017
Leukodystrophy, hypomyelinating, 101Nov 3, 2016
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation1Jun 30, 2017
Leukoencephalopathy with vanishing white matter4Jun 30, 2017
Leukoencephalopathy, progressive, with ovarian failure1Nov 3, 2016
Li-Fraumeni syndrome 22Jun 30, 2017
Lig4 syndrome1Jun 30, 2017
Limb-girdle muscle weakness1Jun 30, 2017
Limb-girdle muscular dystrophy, type 1A2Jun 30, 2017
Limb-girdle muscular dystrophy, type 1B12Jun 30, 2017
Limb-girdle muscular dystrophy, type 1C5Jun 30, 2017
Limb-girdle muscular dystrophy, type 1E4Jun 30, 2017
Limb-girdle muscular dystrophy, type 1F1Jun 30, 2017
Limb-girdle muscular dystrophy, type 2A105Jun 30, 2017
Limb-girdle muscular dystrophy, type 2B156Jun 30, 2017
Limb-girdle muscular dystrophy, type 2D20Jun 30, 2017
Limb-girdle muscular dystrophy, type 2E7Jun 30, 2017
Limb-girdle muscular dystrophy, type 2F2Jun 30, 2017
Limb-girdle muscular dystrophy, type 2G2Jun 30, 2017
Limb-girdle muscular dystrophy, type 2J43Jun 30, 2017
Limb-girdle muscular dystrophy, type 2L42Jun 30, 2017
Limb-girdle muscular dystrophy, type 2Q2Jun 30, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C14Jun 30, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C28Jun 30, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C32Jun 30, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C410Jun 30, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C514Jun 30, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C92Jun 30, 2017
Limb-mammary syndrome1Jun 30, 2017
Lipodystrophy, congenital generalized, type 41Jun 30, 2017
Lipoyltransferase 1 deficiency1Jun 30, 2017
Lissencephaly 12Jun 30, 2017
Lissencephaly 2, X-linked3Jun 30, 2017
Lissencephaly 31Jun 30, 2017
Lissencephaly, X-linked1Jun 30, 2017
Loeys-Dietz syndrome 31Jun 30, 2017
Loeys-Dietz syndrome 41Jun 30, 2017
Long QT syndrome 11Jun 30, 2017
Long QT syndrome 22Jun 30, 2017
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency8Jun 30, 2017
Lowe syndrome9Jun 30, 2017
Lynch syndrome I4Jun 30, 2017
Lynch syndrome II2Jun 30, 2017
Lysosomal acid lipase deficiency2Jun 30, 2017
METHYLCOBALAMIN DEFICIENCY, cblG TYPE2Jun 30, 2017
Macrocephaly/autism syndrome1Jun 30, 2017
Macular corneal dystrophy Type I1Jun 30, 2017
Macular dystrophy, vitelliform, 51Nov 3, 2016
Malignant hyperthermia, susceptibility to, 113Jun 30, 2017
Malignant tumor of prostate1Jun 30, 2017
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome1Jun 30, 2017
Mandibuloacral dysostosis6Jun 30, 2017
Mandibuloacral dysplasia with type B lipodystrophy1Nov 3, 2016
Maple syrup urine disease74Jun 30, 2017
Marfan syndrome7Jun 30, 2017
Marinesco-Sjögren syndrome2Jun 30, 2017
Marshall syndrome2Jun 30, 2017
Maturity-onset diabetes of the young, type 23Jun 30, 2017
Maturity-onset diabetes of the young, type 31Jun 30, 2017
Maturity-onset diabetes of the young, type 81Jun 30, 2017
McKusick Kaufman syndrome1Jun 30, 2017
Meckel syndrome type 12Jun 30, 2017
Meckel syndrome type 31Jun 30, 2017
Meckel syndrome type 423Jun 30, 2017
Meckel syndrome type 52Jun 30, 2017
Meckel syndrome type 67Jun 30, 2017
Meckel syndrome type 71Jun 30, 2017
Meckel syndrome type 81Nov 3, 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency24Jun 30, 2017
Medullary cystic kidney disease 21Jun 30, 2017
Megalencephaly cutis marmorata telangiectatica congenita1Jun 30, 2017
Megaloblastic anemia due to inborn errors of metabolism1Jun 30, 2017
Melanoma-pancreatic cancer syndrome1Jun 30, 2017
Menkes kinky-hair syndrome4Jun 30, 2017
Mental retardation 63, X-linked1Jun 30, 2017
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1Jun 30, 2017
Mental retardation and microcephaly with pontine and cerebellar hypoplasia2Jun 30, 2017
Mental retardation with language impairment and with or without autistic features6Jun 30, 2017
Mental retardation, X-linked 191Jun 30, 2017
Mental retardation, X-linked 982Jun 30, 2017
Mental retardation, X-linked, syndromic 1315Jun 30, 2017
Mental retardation, X-linked, syndromic, wu type1Jun 30, 2017
Mental retardation, autosomal dominant 11Jun 30, 2017
Mental retardation, autosomal dominant 191Jun 30, 2017
Mental retardation, autosomal dominant 231Jun 30, 2017
Mental retardation, autosomal dominant 312Jun 30, 2017
Mental retardation, autosomal dominant 61Jun 30, 2017
Mental retardation, autosomal dominant 71Jun 30, 2017
Mental retardation, syndromic 14, X-linked1Jun 30, 2017
Mental retardation, syndromic, Claes-Jensen type, X-linked4Jun 30, 2017
Mental retardation, with or without seizures, ARX-related, X-linked1Nov 3, 2016
Merosin deficient congenital muscular dystrophy44Jun 30, 2017
Metachromatic leukodystrophy27Jun 30, 2017
Methylmalonic acidemia with homocystinuria9Jun 30, 2017
Methylmalonic aciduria cblB type2Jun 30, 2017
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency12Jun 30, 2017
Michels syndrome1Jun 30, 2017
Microcephalic osteodysplastic primordial dwarfism type 23Jun 30, 2017
Microcephaly, short stature, and polymicrogyria with or without seizures1Nov 3, 2016
Microcephaly-capillary malformation syndrome2Jun 30, 2017
Microphthalmia syndromic 33Jun 30, 2017
Microphthalmia syndromic 51Jun 30, 2017
Microphthalmia syndromic 92Jun 30, 2017
Microphthalmia, isolated 51Jun 30, 2017
Minicore myopathy1Jun 30, 2017
Mitchell-Riley syndrome1Jun 30, 2017
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Jun 30, 2017
Mitochondrial DNA depletion syndrome 4B, MNGIE type4Jun 30, 2017
Mitochondrial DNA-depletion syndrome 3, hepatocerebral3Jun 30, 2017
Mitochondrial complex I deficiency2Jun 30, 2017
Mitochondrial complex III deficiency, nuclear type 31Jun 30, 2017
Mitochondrial trifunctional protein deficiency6Jun 30, 2017
Miyoshi muscular dystrophy 196Jun 30, 2017
Miyoshi muscular dystrophy 314Jun 30, 2017
Mowat-Wilson syndrome25Jun 30, 2017
Mucolipidosis III Gamma2Jun 30, 2017
Mucolipidosis type IV2Jun 30, 2017
Mucopolysaccharidosis type VI2Jun 30, 2017
Mucopolysaccharidosis type VII6Jun 30, 2017
Mucopolysaccharidosis, MPS-I-H/S5Jun 30, 2017
Mucopolysaccharidosis, MPS-I-S2Jun 30, 2017
Mucopolysaccharidosis, MPS-II21Jun 30, 2017
Mucopolysaccharidosis, MPS-III-A9Jun 30, 2017
Mucopolysaccharidosis, MPS-III-B5Jun 30, 2017
Mucopolysaccharidosis, MPS-IV-A17Jun 30, 2017
Mucopolysaccharidosis, MPS-IV-B20Jun 30, 2017
Multicentric osteolysis nephropathy1Jun 30, 2017
Multicentric osteolysis, nodulosis and arthropathy3Jun 30, 2017
Multiple congenital anomalies-hypotonia-seizures syndrome 11Jun 30, 2017
Multiple cutaneous leiomyomas6Jun 30, 2017
Multiple endocrine neoplasia, type 13Jun 30, 2017
Multiple endocrine neoplasia, type 2a9Jun 30, 2017
Multiple epiphyseal dysplasia 44Jun 30, 2017
Multiple fibrofolliculomas1Nov 3, 2016
Multiple gastrointestinal atresias2Jun 30, 2017
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Jun 30, 2017
Multiple pterygium syndrome Escobar type1Nov 3, 2016
Muscle AMP deaminase deficiency4Jun 30, 2017
Muscle eye brain disease2Jun 30, 2017
Muscular Diseases3Jun 30, 2017
Muscular dystrophy, limb-girdle, type 2R1Jun 30, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 113Jun 30, 2017
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 75Jun 30, 2017
Myasthenia, limb-girdle, familial2Jun 30, 2017
Myasthenic syndrome, congenital, 2a, slow-channel1Jun 30, 2017
Myasthenic syndrome, congenital, 4a, slow-channel1Jun 30, 2017
Myasthenic syndrome, congenital, 4b, fast-channel1Jun 30, 2017
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency5Jun 30, 2017
Myasthenic syndrome, slow-channel congenital1Jun 30, 2017
Mycobacterial and viral infections, susceptibility to, autosomal recessive1Jun 30, 2017
Myhre syndrome1Jun 30, 2017
Myoclonic dystonia2Jun 30, 2017
Myofibrillar myopathy 114Jun 30, 2017
Myopathy with postural muscle atrophy, X-linked1Jun 30, 2017
Myopathy, Central Core17Jun 30, 2017
Myopathy, centronuclear, 11Jun 30, 2017
Myopathy, distal, with anterior tibial onset7Jun 30, 2017
Myopathy, early-onset, with fatal cardiomyopathy37Jun 30, 2017
Myosclerosis, autosomal recessive1Jun 30, 2017
Myotilinopathy2Jun 30, 2017
Nanophthalmos 24Jun 30, 2017
Navajo neurohepatopathy4Jun 30, 2017
Nemaline myopathy 11Jun 30, 2017
Nemaline myopathy 212Jun 30, 2017
Nemaline myopathy 34Jun 30, 2017
Nemaline myopathy 51Jun 30, 2017
Neonatal adrenoleucodystrophy1Jun 30, 2017
Neonatal intrahepatic cholestasis caused by citrin deficiency1Jun 30, 2017
Nephrogenic diabetes insipidus, X-linked1Jun 30, 2017
Nephronophthisis 13Jun 30, 2017
Nephronophthisis 193Jun 30, 2017
Nephronophthisis 43Jun 30, 2017
Nephropathic cystinosis2Jun 30, 2017
Nephrotic syndrome, idiopathic, steroid-resistant1Jun 30, 2017
Nephrotic syndrome, type 31Jun 30, 2017
Neural tube defects, folate-sensitive1Jun 30, 2017
Neurodegeneration with brain iron accumulation 41Jun 30, 2017
Neutral 1 amino acid transport defect1Jun 30, 2017
Niemann-Pick disease type C127Jun 30, 2017
Niemann-Pick disease, type A5Jun 30, 2017
Niemann-Pick disease, type B26Jun 30, 2017
Nijmegen breakage syndrome-like disorder1Jun 30, 2017
Non-ketotic hyperglycinemia1Nov 3, 2016
Nonaka myopathy25Jun 30, 2017
Noonan syndrome 17Jun 30, 2017
Noonan syndrome 31Jun 30, 2017
Noonan syndrome 42Jun 30, 2017
Noonan syndrome 53Jun 30, 2017
Noonan syndrome 71Jun 30, 2017
Noonan syndrome 81Jun 30, 2017
Noonan syndrome-like disorder with loose anagen hair 11Jun 30, 2017
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 21Jun 30, 2017
Occult macular dystrophy1Jun 30, 2017
Oculocutaneous albinism type 1B5Jun 30, 2017
Oculocutaneous albinism type 31Jun 30, 2017
Oculocutaneous albinism type 44Jun 30, 2017
Oculofaciocardiodental syndrome3Jun 30, 2017
Ohdo syndrome, X-linked1Jun 30, 2017
Opitz-Frias syndrome5Jun 30, 2017
Ornithine carbamoyltransferase deficiency5Jun 30, 2017
Orofaciodigital syndrome 61Jun 30, 2017
Osler hemorrhagic telangiectasia syndrome3Jun 30, 2017
Osteochondritis dissecans1Jun 30, 2017
Osteogenesis imperfecta type 51Jun 30, 2017
Osteogenesis imperfecta type 83Jun 30, 2017
Osteogenesis imperfecta type I26Jun 30, 2017
Osteogenesis imperfecta type III5Jun 30, 2017
Osteogenesis imperfecta with normal sclerae, dominant form9Jun 30, 2017
Osteogenesis imperfecta, recessive perinatal lethal13Jun 30, 2017
Osteogenesis imperfecta, type XI1Jun 30, 2017
Osteopetrosis autosomal recessive 12Jun 30, 2017
Osteopetrosis with renal tubular acidosis1Jun 30, 2017
Osteopetrosis, autosomal recessive 51Jun 30, 2017
Osteoporosis with pseudoglioma1Nov 3, 2016
Osteosarcoma1Jun 30, 2017
Oto-palato-digital syndrome, type I12Jun 30, 2017
Otospondylomegaepiphyseal dysplasia4Jun 30, 2017
PTEN hamartoma tumor syndrome1Jun 30, 2017
Papillon-Lefèvre syndrome1Jun 30, 2017
Paragangliomas 42Jun 30, 2017
Paramyotonia congenita of von Eulenburg2Jun 30, 2017
Patterned dystrophy of retinal pigment epithelium1Jun 30, 2017
Pelizaeus-Merzbacher disease1Jun 30, 2017
Pendred syndrome7Jun 30, 2017
Periventricular nodular heterotopia 117Jun 30, 2017
Permanent neonatal diabetes mellitus2Jun 30, 2017
Peroxisome biogenesis disorder 11A1Jun 30, 2017
Peroxisome biogenesis disorder 11B1Jun 30, 2017
Peroxisome biogenesis disorder 1B2Jun 30, 2017
Peroxisome biogenesis disorder 2a (zellweger)1Jun 30, 2017
Peroxisome biogenesis disorder 4B1Jun 30, 2017
Peroxisome biogenesis disorder 4a (zellweger)5Jun 30, 2017
Peroxisome biogenesis disorder 5a (zellweger)1Jun 30, 2017
Peroxisome biogenesis disorder 6A2Jun 30, 2017
Peroxisome biogenesis disorder 7A2Jun 30, 2017
Peroxisome biogenesis disorder 9B2Jun 30, 2017
Perrault syndrome 41Jun 30, 2017
Persistent hyperinsulinemic hypoglycemia of infancy3Jun 30, 2017
Peters plus syndrome3Jun 30, 2017
Peutz-Jeghers syndrome7Jun 30, 2017
Phenylketonuria77Jun 30, 2017
Pheochromocytoma2Jun 30, 2017
Phosphoglycerate kinase 1 deficiency1Jan 18, 2018
Phytanic acid storage disease1Jun 30, 2017
Pigmentary pallidal degeneration1Jun 30, 2017
Pigmentary retinal dystrophy3Jun 30, 2017
Pilomatrixoma1Jun 30, 2017
Pineal hyperplasia AND diabetes mellitus syndrome1Jun 30, 2017
Pitt-Hopkins syndrome8Jun 30, 2017
Pitt-Hopkins-like syndrome 21Jun 30, 2017
Pituitary hormone deficiency, combined 61Jun 30, 2017
Plasminogen deficiency, type I2Jun 30, 2017
Platelet glycoprotein IV deficiency1Jun 30, 2017
Platelet-type bleeding disorder 111Jun 30, 2017
Platyspondylic lethal skeletal dysplasia Torrance type3Jun 30, 2017
Polycystic liver disease 13Jun 30, 2017
Polyglandular autoimmune syndrome, type 14Jun 30, 2017
Polyglucosan body disease, adult2Jun 30, 2017
Pontocerebellar hypoplasia type 2A1Jun 30, 2017
Pontocerebellar hypoplasia type 41Jun 30, 2017
Pontocerebellar hypoplasia, type 1b1Jun 30, 2017
Poretti-Boltshauser syndrome1Jun 30, 2017
Primary autosomal recessive microcephaly 11Jun 30, 2017
Primary autosomal recessive microcephaly 21Jun 30, 2017
Primary autosomal recessive microcephaly 31Jun 30, 2017
Primary autosomal recessive microcephaly 52Jun 30, 2017
Primary autosomal recessive microcephaly 61Jun 30, 2017
Primary ciliary dyskinesia 231Jun 30, 2017
Primary ciliary dyskinesia 241Jun 30, 2017
Primary ciliary dyskinesia 252Jun 30, 2017
Primary dilated cardiomyopathy1Jun 30, 2017
Primary hyperoxaluria, type I1Jun 30, 2017
Primary hyperoxaluria, type II1Jun 30, 2017
Primary pulmonary hypertension1Jun 30, 2017
Progressive familial intrahepatic cholestasis 219Jun 30, 2017
Progressive familial intrahepatic cholestasis 313Jun 30, 2017
Progressive familial intrahepatic cholestasis 46Jun 30, 2017
Progressive intrahepatic cholestasis6Jun 30, 2017
Progressive pseudorheumatoid dysplasia1Jun 30, 2017
Progressive sclerosing poliodystrophy12Jun 30, 2017
Propionyl-CoA carboxylase deficiency25Jun 30, 2017
Pseudohypoparathyroidism2Jun 30, 2017
Pseudohypoparathyroidism type 1C1Jun 30, 2017
Pseudopseudohypoparathyroidism2Jun 30, 2017
Pseudoxanthoma elasticum2Jun 30, 2017
Pseudoxanthoma elasticum, forme fruste1Jun 30, 2017
Pyridoxine-dependent epilepsy3Jun 30, 2017
Pyruvate dehydrogenase E1-alpha deficiency1Jun 30, 2017
Pyruvate kinase deficiency of red cells1Jun 30, 2017
Radial aplasia-thrombocytopenia syndrome2Jun 30, 2017
Recessive dystrophic epidermolysis bullosa2Jun 30, 2017
Renal carnitine transport defect19Jun 30, 2017
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia1Jun 30, 2017
Renal-hepatic-pancreatic dysplasia7Jun 30, 2017
Renpenning syndrome 11Jun 30, 2017
Retinitis pigmentosa 16Jun 30, 2017
Retinitis pigmentosa 113Jun 30, 2017
Retinitis pigmentosa 124Jun 30, 2017
Retinitis pigmentosa 141Jun 30, 2017
Retinitis pigmentosa 156Jun 30, 2017
Retinitis pigmentosa 181Jun 30, 2017
Retinitis pigmentosa 194Jun 30, 2017
Retinitis pigmentosa 22Jun 30, 2017
Retinitis pigmentosa 2515Jun 30, 2017
Retinitis pigmentosa 262Jun 30, 2017
Retinitis pigmentosa 271Jun 30, 2017
Retinitis pigmentosa 284Jun 30, 2017
Retinitis pigmentosa 371Jun 30, 2017
Retinitis pigmentosa 3915Jun 30, 2017
Retinitis pigmentosa 41Jun 30, 2017
Retinitis pigmentosa 403Jun 30, 2017
Retinitis pigmentosa 413Jun 30, 2017
Retinitis pigmentosa 433Jun 30, 2017
Retinitis pigmentosa 453Jun 30, 2017
Retinitis pigmentosa 501Jun 30, 2017
Retinitis pigmentosa 545Jun 30, 2017
Retinitis pigmentosa 562Jun 30, 2017
Retinitis pigmentosa 621Jun 30, 2017
Retinitis pigmentosa 71Jun 30, 2017
Retinoblastoma20Jun 30, 2017
Rett syndrome20Jun 30, 2017
Rett syndrome, congenital variant2Jun 30, 2017
Rhizomelic chondrodysplasia punctata type 11Jun 30, 2017
Riddle syndrome1Jun 30, 2017
Rippling muscle disease1Jun 30, 2017
Robinow syndrome, autosomal recessive1Nov 3, 2016
Rothmund-Thomson syndrome7Jun 30, 2017
Rubinstein-Taybi syndrome3Jun 30, 2017
Rubinstein-Taybi syndrome 22Jun 30, 2017
Salla disease1Jun 30, 2017
Sandhoff disease12Jun 30, 2017
Sarcotubular myopathy3Jun 30, 2017
Schaaf-yang syndrome1Jun 30, 2017
Schindler disease, type 11Jun 30, 2017
Schinzel-Giedion syndrome1Jun 30, 2017
Schwannomatosis 21Jun 30, 2017
Schwartz Jampel syndrome type 11Jun 30, 2017
Segawa syndrome, autosomal recessive1Jun 30, 2017
Seizures, benign familial infantile, 21Jun 30, 2017
Senior-Loken syndrome 56Jun 30, 2017
Senior-Loken syndrome 625Jun 30, 2017
Senior-Loken syndrome 71Jun 30, 2017
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Jun 30, 2017
Septo-optic dysplasia sequence1Jun 30, 2017
Severe X-linked myotubular myopathy14Jun 30, 2017
Severe autosomal recessive muscular dystrophy of childhood - North African type12Jun 30, 2017
Severe combined immunodeficiency due to ADA deficiency2Jun 30, 2017
Severe combined immunodeficiency, atypical1Jun 30, 2017
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive2Jun 30, 2017
Severe myoclonic epilepsy in infancy31Jun 30, 2017
Short rib polydactyly syndrome 51Jun 30, 2017
Short rib-polydactyly syndrome, Majewski type3Jun 30, 2017
Short stature, idiopathic, X-linked2Jun 30, 2017
Short-rib thoracic dysplasia 3 with or without polydactyly8Jun 30, 2017
Shwachman syndrome1Jun 30, 2017
Sialidosis, type II2Jun 30, 2017
Sialuria21Jun 30, 2017
Sick sinus syndrome 1, autosomal recessive1Jun 30, 2017
Sick sinus syndrome 2, autosomal dominant1Jun 30, 2017
Siderius X-linked mental retardation syndrome2Jun 30, 2017
Simpson-Golabi-Behmel syndrome1Jun 30, 2017
Sitosterolemia10Jun 30, 2017
Sjögren-Larsson syndrome2Jun 30, 2017
Smith-Lemli-Opitz syndrome16Jun 30, 2017
Smith-Magenis syndrome5Jun 30, 2017
Smith-McCort dysplasia 11Jun 30, 2017
Sotos syndrome 112Jun 30, 2017
Spastic ataxia Charlevoix-Saguenay type3Jun 30, 2017
Spastic paraplegia 11, autosomal recessive1Jun 30, 2017
Spastic paraplegia 152Jun 30, 2017
Spastic paraplegia 49, autosomal recessive1Jun 30, 2017
Spastic paraplegia 50, autosomal recessive1Jun 30, 2017
Spastic paraplegia 5A2Jun 30, 2017
Spastic paraplegia 62Jun 30, 2017
Spastic paraplegia 73Jun 30, 2017
Spinal muscular atrophy, distal, autosomal recessive, 16Jun 30, 2017
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Jun 30, 2017
Spinocerebellar ataxia, autosomal recessive 822Jun 30, 2017
Spondylocarpotarsal synostosis syndrome1Jun 30, 2017
Spondyloepimetaphyseal dysplasia, Missouri type1Nov 3, 2016
Spondyloepimetaphyseal dysplasia, pakistani type3Jun 30, 2017
Spondyloepiphyseal dysplasia7Jun 30, 2017
Spondyloepiphyseal dysplasia, kimberley type1Jun 30, 2017
Spondylometaphyseal dysplasia2Jun 30, 2017
Spondyloperipheral dysplasia4Jun 30, 2017
Spongy degeneration of central nervous system4Jun 30, 2017
Stargardt disease 142Jun 30, 2017
Stargardt disease 41Jun 30, 2017
Stickler syndrome type 135Jun 30, 2017
Stickler syndrome, type 26Jun 30, 2017
Stickler syndrome, type 34Jun 30, 2017
Stickler syndrome, type 41Jun 30, 2017
Stickler syndrome, type I, nonsyndromic ocular1Jun 30, 2017
Stuve-Wiedemann syndrome1Nov 3, 2016
Subacute neuronopathic Gaucher's disease1Jun 30, 2017
Surfactant metabolism dysfunction, pulmonary, 31Jun 30, 2017
Symmetrical dyschromatosis of extremities1Nov 3, 2016
T-cell immunodeficiency, congenital alopecia and nail dystrophy1Jun 30, 2017
Tatton-Brown-rahman syndrome1Jun 30, 2017
Tay-Sachs disease5Jun 30, 2017
Thanatophoric dysplasia type 11Jun 30, 2017
Three M syndrome 110Jun 30, 2017
Three M syndrome 22Jun 30, 2017
Thyroid dyshormonogenesis 62Jun 30, 2017
Thyroid hormone resistance, generalized, autosomal dominant2Jun 30, 2017
Timothy syndrome1Jun 30, 2017
Tooth agenesis, selective, 41Jun 30, 2017
Townes-Brocks syndrome 11Jun 30, 2017
Transposition of the great arteries, dextro-looped 11Jun 30, 2017
Trichohepatoenteric syndrome 13Jun 30, 2017
Trichorhinophalangeal dysplasia type I2Jun 30, 2017
Trichothiodystrophy 1, photosensitive2Jun 30, 2017
Trichothiodystrophy 3, photosensitive1Jun 30, 2017
Tuberous sclerosis 14Jun 30, 2017
Tuberous sclerosis 28Jun 30, 2017
Tumoral calcinosis, familial, hyperphosphatemic1Jun 30, 2017
Turcot syndrome3Jun 30, 2017
Type B brachydactyly1Nov 3, 2016
Type C brachydactyly1Jun 30, 2017
Tyrosinase-negative oculocutaneous albinism11Jun 30, 2017
Tyrosinase-positive oculocutaneous albinism8Jun 30, 2017
Tyrosinemia type I3Jun 30, 2017
UDPglucose-4-epimerase deficiency6Jun 30, 2017
Ullrich congenital muscular dystrophy 1108Jun 30, 2017
Ulna and fibula absence of with severe limb deficiency1Jun 30, 2017
Unverricht-Lundborg syndrome1Jun 30, 2017
Usher syndrome, type 17Jun 30, 2017
Usher syndrome, type 1C2Jun 30, 2017
Usher syndrome, type 1D2Jun 30, 2017
Usher syndrome, type 1F1Jun 30, 2017
Usher syndrome, type 1G1Jun 30, 2017
Usher syndrome, type 2A42Jun 30, 2017
Usher syndrome, type 2C6Jun 30, 2017
Usher syndrome, type 3A1Jun 30, 2017
Very long chain acyl-CoA dehydrogenase deficiency24Jun 30, 2017
Vici syndrome1Jun 30, 2017
Vitelliform macular dystrophy type 23Jun 30, 2017
Vitiligo-associated multiple autoimmune disease susceptibility 11Jun 30, 2017
Von Hippel-Lindau syndrome12Jun 30, 2017
WFS1-Related Disorders4Jun 30, 2017
Warburg micro syndrome 14Jun 30, 2017
Werner syndrome2Jun 30, 2017
White-sutton syndrome1Jun 30, 2017
Wilson disease20Jun 30, 2017
Wrinkly skin syndrome1Nov 3, 2016
X-linked hereditary motor and sensory neuropathy2Jun 30, 2017
X-linked hydrocephalus syndrome3Jun 30, 2017
X-linked mental retardation with marfanoid habitus syndrome1Jun 30, 2017
Xeroderma pigmentosum, group D1Jun 30, 2017
Xeroderma pigmentosum, group F1Jun 30, 2017
Xeroderma pigmentosum, group G1Jun 30, 2017
Zellweger syndrome8Jun 30, 2017
Zunich neuroectodermal syndrome2Jun 30, 2017
beta Thalassemia5Jun 30, 2017
not provided466Jun 30, 2017
not specified31804Jun 30, 2017
von Willebrand disease type 21Jun 30, 2017

Testing in GTR

Disease nameNumber of tests
2-methyl-3-hydroxybutyric aciduria1 test
3 Methylcrotonyl-CoA carboxylase 1 deficiency4 tests
3-Methylglutaconic aciduria type 12 tests
3-Methylglutaconic aciduria type 27 tests
3-Methylglutaconic aciduria type 37 tests
3-methylcrotonyl CoA carboxylase 2 deficiency4 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
46,XY sex reversal, type 22 tests
46,XY sex reversal, type 32 tests
ADULT syndrome2 tests
AIP-Related Familial Isolated Pituitary Adenomas1 test
ALG12-congenital disorder of glycosylation4 tests
ALG9 congenital disorder of glycosylation4 tests
ATR-X syndrome7 tests
Aarskog syndrome6 tests
Abetalipoproteinaemia4 tests
Abnormality of mitochondrial metabolism1 test
Acheiropodia2 tests
Achondrogenesis, type IA3 tests
Achondrogenesis, type IB5 tests
Achondrogenesis, type II10 tests
Achondroplasia6 tests
Achromatopsia1 test
Achromatopsia 24 tests
Achromatopsia 36 tests
Achromatopsia 44 tests
Acquired hemoglobin H disease5 tests
Acrocallosal syndrome, Schinzel type10 tests
Acrocapitofemoral dysplasia4 tests
Acrocephalosyndactyly type I4 tests
Acrodysostosis4 tests
Acrodysostosis 1 with or without hormone resistance1 test
Acromesomelic dysplasia Hunter Thompson type4 tests
Acromesomelic dysplasia Maroteaux type3 tests
Acromesomelic dysplasia, Demirhan type4 tests
Acromicric dysplasia7 tests
Acute lymphoid leukemia2 tests
Acute myeloid leukemia5 tests
Acute neuronopathic Gaucher's disease2 tests
Acyl-CoA dehydrogenase family, member 9, deficiency of3 tests
Adams-Oliver syndrome 12 tests
Adenylosuccinate lyase deficiency5 tests
Adolescent nephronophthisis10 tests
Adrenocortical carcinoma, hereditary2 tests
Adrenoleukodystrophy2 tests
Adult hypophosphatasia3 tests
Adult neuronal ceroid lipofuscinosis8 tests
Advanced maternal age gravida5 tests
Age-related macular degeneration 28 tests
Age-related macular degeneration 35 tests
Age-related macular degeneration 64 tests
Aicardi Goutieres syndrome 11 test
Aicardi Goutieres syndrome 21 test
Aicardi Goutieres syndrome 31 test
Aicardi Goutieres syndrome 48 tests
Aicardi Goutieres syndrome 51 test
Aicardi's syndrome1 test
Alacrima, achalasia, and mental retardation syndrome1 test
Alagille syndrome 11 test
Alagille syndrome 23 tests
Albinism1 test
Albinism, ocular, with sensorineural deafness4 tests
Albinism, oculocutaneous, type VI3 tests
Albinism, oculocutaneous, type VII3 tests
Allan-Herndon-Dudley syndrome3 tests
Alpha mannosidosis type 21 test
Alpha-1-antitrypsin deficiency4 tests
Alpha-B crystallinopathy4 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
Alport syndrome1 test
Alport syndrome, X-linked recessive2 tests
Alstrom syndrome6 tests
Alternating hemiplegia of childhood3 tests
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 21 test
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia1 test
Ambiguous genitalia2 tests
Amelogenesis imperfecta, type IV2 tests
Aminoglycoside-induced deafness1 test
Amish lethal microcephaly3 tests
Amyloidogenic transthyretin amyloidosis5 tests
Amyloidosis hereditary4 tests
Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
Andermann syndrome3 tests
Andersen Tawil syndrome4 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency9 tests
Angelman syndrome11 tests
Angelman syndrome-like2 tests
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps4 tests
Aniridia 16 tests
Anophthalmos with limb anomalies4 tests
Anterior segment dysgenesis 36 tests
Anterior segment mesenchymal dysgenesis4 tests
Antley-Bixler syndrome2 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
Aortic aneurysm2 tests
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 63 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic valve disorder2 tests
Aplastic anemia7 tests
Arginine:glycine amidinotransferase deficiency3 tests
Argininosuccinate lyase deficiency4 tests
Aromatase deficiency2 tests
Arrhythmogenic right ventricular cardiomyopathy2 tests
Arrhythmogenic right ventricular cardiomyopathy, type 106 tests
Arrhythmogenic right ventricular cardiomyopathy, type 116 tests
Arrhythmogenic right ventricular cardiomyopathy, type 126 tests
Arrhythmogenic right ventricular cardiomyopathy, type 56 tests
Arrhythmogenic right ventricular cardiomyopathy, type 86 tests
Arrhythmogenic right ventricular cardiomyopathy, type 96 tests
Arrhythmogenic right ventricular dysplasia, familial, 133 tests
Arrhythmogenic right ventricular dysplasia, familial, 212 tests
Arterial calcification of infancy2 tests
Arterial tortuosity syndrome5 tests
Arthrogryposis renal dysfunction cholestasis syndrome1 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Arthropathy, erosive1 test
Arts syndrome7 tests
Aspartylglucosaminuria6 tests
Asperger syndrome X-linked 13 tests
Asphyxiating thoracic dystrophy 25 tests
Asphyxiating thoracic dystrophy 45 tests
Asphyxiating thoracic dystrophy 52 tests
Asthma, nasal polyps, and aspirin intolerance3 tests
Ataxia with vitamin E deficiency3 tests
Ataxia-oculomotor apraxia type 12 tests
Ataxia-telangiectasia syndrome12 tests
Ataxia-telangiectasia-like disorder 16 tests
Ateleiotic dwarfism1 test
Atelosteogenesis type 13 tests
Atelosteogenesis type 24 tests
Atelosteogenesis type 33 tests
Athabaskan brainstem dysgenesis2 tests
Atrial fibrillation, familial, 1010 tests
Atrial fibrillation, familial, 112 tests
Atrial fibrillation, familial, 122 tests
Atrial fibrillation, familial, 137 tests
Atrial fibrillation, familial, 36 tests
Atrial fibrillation, familial, 44 tests
Atrial fibrillation, familial, 62 tests
Atrial fibrillation, familial, 72 tests
Atrial fibrillation, familial, 94 tests
Atrial myxoma, familial5 tests
Atrial septal defect2 tests
Atrial septal defect 32 tests
Atrial septal defect 55 tests
Atrial septal defect 7 with or without atrioventricular conduction defects5 tests
Atrial septal defect 92 tests
Atrioventricular septal defect 21 test
Atrioventricular septal defect 52 tests
Atrophia bulborum hereditaria8 tests
Attenuated FAP2 tests
Atypical mycobacteriosis, familial, X-linked 22 tests
Autism spectrum disorder7 tests
Autism, susceptibility to, 182 tests
Autism, susceptibility to, X-linked 13 tests
Autism, susceptibility to, X-linked 25 tests
Autism, susceptibility to, X-linked 34 tests
Autism, susceptibility to, X-linked 45 tests
Autism, susceptibility to, X-linked 53 tests
Autoimmune lymphoproliferative syndrome, type III1 test
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia1 test
Autoinflammation with infantile enterocolitis1 test
Autosomal dominant hypohidrotic ectodermal dysplasia1 test
Autosomal dominant hypophosphatemic rickets2 tests
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant optic atrophy plus syndrome4 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 17 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 32 tests
Autosomal hypohidrotic ectodermal dysplasia1 test
Autosomal recessive centronuclear myopathy2 tests
Autosomal recessive cutis laxa type 1B3 tests
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive cutis laxa type 3B2 tests
Autosomal recessive cutis laxa type IA5 tests
Autosomal recessive hypophosphatemic bone disease2 tests
Autosomal recessive hypophosphatemic vitamin D refractory rickets2 tests
Autosomal recessive polycystic kidney disease5 tests
Avascular necrosis of the head of femur10 tests
Axenfeld-Rieger syndrome type 17 tests
Axenfeld-Rieger syndrome type 36 tests
Azoospermia2 tests
Baller-Gerold syndrome4 tests
Bamforth syndrome2 tests
Bannayan-Riley-Ruvalcaba syndrome10 tests
Baraitser-Winter Syndrome 25 tests
Bardet-Biedl syndrome24 tests
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bartter syndrome type 42 tests
Basal cell carcinoma, multiple6 tests
Basal cell carcinoma, susceptibility to, 72 tests
Becker muscular dystrophy10 tests
Beckwith-Wiedemann syndrome12 tests
Behavior disorder2 tests
Benign familial neonatal seizures 13 tests
Benign familial neonatal seizures 23 tests
Benign familial neonatal-infantile seizures3 tests
Benign recurrent intrahepatic cholestasis 21 test
Benign scapuloperoneal muscular dystrophy with cardiomyopathy12 tests
Bent bone dysplasia syndrome4 tests
Bernard Soulier syndrome1 test
Bestrophinopathy, autosomal recessive6 tests
Beta-D-mannosidosis8 tests
Bethlem myopathy 114 tests
Bietti crystalline corneoretinal dystrophy3 tests
Bifid nose with or without anorectal and renal anomalies4 tests
Bifunctional peroxisomal enzyme deficiency2 tests
Bilateral right-sidedness sequence1 test
Bile acid malabsorption, primary1 test
Bile acid synthesis defect, congenital, 11 test
Bile acid synthesis defect, congenital, 21 test
Bile acid synthesis defect, congenital, 31 test
Bilirubin, serum level of, quantitative trait locus 11 test
Biotin-Responsive Multiple Carboxylase Deficiencies1 test
Biotin-thiamine-responsive basal ganglia disease4 tests
Biotinidase deficiency7 tests
Bladder cancer, somatic4 tests
Bloom syndrome14 tests
Bone mineral density quantitative trait locus 16 tests
Boomerang dysplasia3 tests
Borjeson-Forssman-Lehmann syndrome9 tests
Bothnia retinal dystrophy5 tests
Boucher Neuhauser syndrome2 tests
Brachydactyly type B22 tests
Brachydactyly type E12 tests
Brachydactyly type E22 tests
Brachydactyly, type a1, c4 tests
Brachydactyly-Mental Retardation syndrome2 tests
Brachydactyly-syndactyly syndrome2 tests
Brachyrachia (short spine dysplasia)5 tests
Bradyopsia5 tests
Brain small vessel disease with hemorrhage4 tests
Brain tumor-polyposis syndrome 24 tests
Branched-chain keto acid dehydrogenase kinase deficiency5 tests
Branchiootic syndrome2 tests
Branchiootic syndrome 32 tests
Branchiootorenal syndrome 21 test
Breast and colorectal cancer, susceptibility to2 tests
Breast cancer, early-onset1 test
Breast cancer, familial male1 test
Breast cancer, lobular1 test
Breast cancer, susceptibility to8 tests
Breast-ovarian cancer, familial 18 tests
Breast-ovarian cancer, familial 28 tests
Breast-ovarian cancer, familial 42 tests
Brittle cornea syndrome 22 tests
Brody myopathy1 test
Bronchiectasis with or without elevated sweat chloride 16 tests
Bronchiectasis with or without elevated sweat chloride 24 tests
Bronchiectasis with or without elevated sweat chloride 34 tests
Bruck syndrome 22 tests
Brugada syndrome2 tests
Brugada syndrome 110 tests
Brugada syndrome 24 tests
Brugada syndrome 39 tests
Brugada syndrome 44 tests
Brugada syndrome 57 tests
Brugada syndrome 64 tests
Brugada syndrome 74 tests
Brugada syndrome 86 tests
Brugada syndrome 92 tests
Bulimia nervosa 13 tests
Bull's eye macular dystrophy6 tests
CHARGE association8 tests
COACH syndrome11 tests
COG1 congenital disorder of glycosylation4 tests
COG7 congenital disorder of glycosylation4 tests
Camptodactyly, tall stature, and hearing loss syndrome6 tests
Camptomelic dysplasia4 tests
Capillary malformation-arteriovenous malformation3 tests
Carbohydrate-deficient glycoprotein syndrome type I8 tests
Carbohydrate-deficient glycoprotein syndrome type II4 tests
Carcinoid tumor of intestine3 tests
Carcinoma of cervix4 tests
Carcinoma of colon12 tests
Carcinoma of pancreas3 tests
Cardiac arrhythmia4 tests
Cardiac arrhythmia, ankyrin B-related4 tests
Cardiac valvular dysplasia, X-linked10 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Cardiofaciocutaneous syndrome 115 tests
Cardiofaciocutaneous syndrome 24 tests
Cardiofaciocutaneous syndrome 34 tests
Cardiofaciocutaneous syndrome 43 tests
Cardiomyopathy2 tests
Cardiomyopathy, dilated, 2b2 tests
Carney complex, type 15 tests
Carnitine acylcarnitine translocase deficiency4 tests
Carnitine palmitoyltransferase I deficiency5 tests
Carnitine palmitoyltransferase I deficiency , muscle1 test
Carnitine palmitoyltransferase II deficiency3 tests
Carnitine palmitoyltransferase II deficiency, infantile3 tests
Carnitine palmitoyltransferase II deficiency, lethal neonatal2 tests
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1 test
Carotid intimal medial thickness 12 tests
Carpal tunnel syndrome5 tests
Cataract 114 tests
Cataract 16, multiple types4 tests
Cataract 403 tests
Cataract 414 tests
Catecholaminergic polymorphic ventricular tachycardia type 112 tests
Cellular mosaicism2 tests
Central precocious puberty2 tests
Cerebellar ataxia infantile with progressive external ophthalmoplegia7 tests
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant4 tests
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 16 tests
Cerebral cavernous malformations 12 tests
Cerebral cavernous malformations 22 tests
Cerebral cavernous malformations 32 tests
Cerebral creatine deficiency syndrome1 test
Cerebral folate deficiency7 tests
Cerebro-oculo-facio-skeletal syndrome1 test
Cerebrooculonasal syndrome1 test
Ceroid lipofuscinosis neuronal 19 tests
Ceroid lipofuscinosis neuronal 107 tests
Ceroid lipofuscinosis neuronal 29 tests
Ceroid lipofuscinosis neuronal 4B autosomal dominant4 tests
Ceroid lipofuscinosis neuronal 59 tests
Ceroid lipofuscinosis neuronal 68 tests
Ceroid lipofuscinosis neuronal 78 tests
Ceroid lipofuscinosis neuronal 89 tests
Ceroid lipofuscinosis, neuronal, 114 tests
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant8 tests
Charcot-Marie-Tooth disease3 tests
Charcot-Marie-Tooth disease and deafness2 tests
Charcot-Marie-Tooth disease dominant intermediate 32 tests
Charcot-Marie-Tooth disease type 2B112 tests
Charcot-Marie-Tooth disease type 2C3 tests
Charcot-Marie-Tooth disease type 2D2 tests
Charcot-Marie-Tooth disease type 2E2 tests
Charcot-Marie-Tooth disease type 2F2 tests
Charcot-Marie-Tooth disease type 2I2 tests
Charcot-Marie-Tooth disease type 2J2 tests
Charcot-Marie-Tooth disease type 2K2 tests
Charcot-Marie-Tooth disease, X-linked recessive, type 57 tests
Charcot-Marie-Tooth disease, axonal, type 2b2 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1d2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1f2 tests
Charcot-Marie-Tooth disease, demyelinating, type 4f2 tests
Charcot-Marie-Tooth disease, dominant intermediate B4 tests
Charcot-Marie-Tooth disease, dominant intermediate C2 tests
Charcot-Marie-Tooth disease, recessive intermediate A2 tests
Charcot-Marie-Tooth disease, recessive intermediate c4 tests
Charcot-Marie-Tooth disease, type 1C2 tests
Charcot-Marie-Tooth disease, type 2A12 tests
Charcot-Marie-Tooth disease, type 2A2A3 tests
Charcot-Marie-Tooth disease, type 2L2 tests
Charcot-Marie-Tooth disease, type 2N2 tests
Charcot-Marie-Tooth disease, type 4A2 tests
Charcot-Marie-Tooth disease, type 4B12 tests
Charcot-Marie-Tooth disease, type 4B22 tests
Charcot-Marie-Tooth disease, type 4C2 tests
Charcot-Marie-Tooth disease, type 4D2 tests
Charcot-Marie-Tooth disease, type 4H2 tests
Charcot-Marie-Tooth disease, type 4J2 tests
Charcot-Marie-Tooth disease, type IA2 tests
Child syndrome1 test
Childhood hypophosphatasia2 tests
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia8 tests
Cholecystitis1 test
Cholestanol storage disease4 tests
Cholestasis of pregnancy1 test
Cholestasis, benign recurrent intrahepatic 11 test
Cholestasis, intrahepatic, of pregnancy 31 test
Chondrocalcinosis 25 tests
Chondrodysplasia Blomstrand type3 tests
Chondrodysplasia punctata 1, X-linked recessive1 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Chondroectodermal dysplasia5 tests
Chondrosarcoma5 tests
Choreoathetosis1 test
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
Choroid plexus papilloma2 tests
Choroidal dystrophy, central areolar 28 tests
Choroideremia6 tests
Christianson syndrome8 tests
Chromosome 1q41-q42 deletion syndrome1 test
Chromosome 22q deletion1 test
Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb3 tests
Chromosome 9q deletion syndrome5 tests
Chronic granulomatous disease, X-linked2 tests
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 22 tests
Chronic infantile neurological, cutaneous and articular syndrome2 tests
Chronic obstructive pulmonary disease1 test
Chudley-McCullough syndrome2 tests
Chédiak-Higashi syndrome1 test
Ciliary dyskinesia1 test
Ciliary dyskinesia, primary, 105 tests
Ciliary dyskinesia, primary, 115 tests
Ciliary dyskinesia, primary, 125 tests
Ciliary dyskinesia, primary, 135 tests
Ciliary dyskinesia, primary, 145 tests
Ciliary dyskinesia, primary, 155 tests
Ciliary dyskinesia, primary, 165 tests
Ciliary dyskinesia, primary, 21 test
Ciliary dyskinesia, primary, 35 tests
Ciliary dyskinesia, primary, 65 tests
Ciliary dyskinesia, primary, 75 tests
Ciliary dyskinesia, primary, 95 tests
Citrullinemia type I4 tests
Citrullinemia type II2 tests
Classical galactosemia, homozygous Duarte-type3 tests
Classical maple syrup urine disease1 test
Cleidocranial dysostosis3 tests
Cobalamin deficiency2 tests
Cockayne syndrome B1 test
Cockayne syndrome type A1 test
Coenzyme Q10 deficiency, primary, 42 tests
Coffin-Lowry syndrome6 tests
Cognitive impairment with or without cerebellar ataxia3 tests
Cohen syndrome6 tests
Cole disease2 tests
Coloboma of optic disc6 tests
Colorectal adenoma6 tests
Colorectal cancer 102 tests
Colorectal cancer 22 tests
Colorectal cancer 45 tests
Colorectal cancer 58 tests
Colorectal cancer 84 tests
Colorectal cancer, hereditary, nonpolyposis, type 110 tests
Combined cellular and humoral immune defects with granulomas1 test
Combined deficiency of sialidase AND beta galactosidase4 tests
Combined immunodeficiency, X-linked1 test
Combined malonic and methylmalonic aciduria1 test
Combined oxidative phosphorylation deficiency 121 test
Combined oxidative phosphorylation deficiency 131 test
Combined saposin deficiency3 tests
Common variable immunodeficiency 12 tests
Common variable immunodeficiency 8, with autoimmunity2 tests
Complete trisomy 13 syndrome2 tests
Complete trisomy 18 syndrome2 tests
Complete trisomy 21 syndrome2 tests
Cone dystrophy 34 tests
Cone dystrophy 44 tests
Cone-rod dystrophy1 test
Cone-rod dystrophy 105 tests
Cone-rod dystrophy 114 tests
Cone-rod dystrophy 126 tests
Cone-rod dystrophy 139 tests
Cone-rod dystrophy 154 tests
Cone-rod dystrophy 165 tests
Cone-rod dystrophy 28 tests
Cone-rod dystrophy 39 tests
Cone-rod dystrophy 54 tests
Cone-rod dystrophy 68 tests
Cone-rod dystrophy 74 tests
Cone-rod dystrophy 95 tests
Cone-rod dystrophy X-linked 36 tests
Cone-rod dystrophy amelogenesis imperfecta4 tests
Cone-rod dystrophy, X-linked 110 tests
Congenital Cataracts, Facial Dysmorphism, and Neuropathy2 tests
Congenital absence of salivary gland2 tests
Congenital adrenal hyperplasia1 test
Congenital adrenal hypoplasia, X-linked2 tests
Congenital bilateral absence of the vas deferens6 tests
Congenital central hypoventilation7 tests
Congenital chromosomal disease6 tests
Congenital contractural arachnodactyly5 tests
Congenital defect of folate absorption1 test
Congenital disorder of deglycosylation2 tests
Congenital disorder of glycosylation14 tests
Congenital disorder of glycosylation type 1B5 tests
Congenital disorder of glycosylation type 1C4 tests
Congenital disorder of glycosylation type 1D4 tests
Congenital disorder of glycosylation type 1E6 tests
Congenital disorder of glycosylation type 1F4 tests
Congenital disorder of glycosylation type 1H4 tests
Congenital disorder of glycosylation type 1I4 tests
Congenital disorder of glycosylation type 1J5 tests
Congenital disorder of glycosylation type 1K1 test
Congenital disorder of glycosylation type 1M4 tests
Congenital disorder of glycosylation type 1N4 tests
Congenital disorder of glycosylation type 1O6 tests
Congenital disorder of glycosylation type 1P3 tests
Congenital disorder of glycosylation type 1Q3 tests
Congenital disorder of glycosylation type 1t6 tests
Congenital disorder of glycosylation type 1u2 tests
Congenital disorder of glycosylation type 2B6 tests
Congenital disorder of glycosylation type 2C4 tests
Congenital disorder of glycosylation type 2D4 tests
Congenital disorder of glycosylation type 2F4 tests
Congenital disorder of glycosylation type 2H4 tests
Congenital disorder of glycosylation type 2J3 tests
Congenital disorder of glycosylation type 2L3 tests
Congenital disorder of glycosylation type 2i3 tests
Congenital disorder of glycosylation type 2k2 tests
Congenital disorder of glycosylation type Ir3 tests
Congenital dyserythropoietic anemia, type II3 tests
Congenital generalized lipodystrophy type 12 tests
Congenital generalized lipodystrophy type 24 tests
Congenital hyperammonemia, type I1 test
Congenital hypomyelinating neuropathy2 tests
Congenital hypothyroidism6 tests
Congenital muscular dystrophy2 tests
Congenital muscular dystrophy, LMNA-related14 tests
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B513 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A511 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A213 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A62 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A76 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B113 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B213 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B311 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B64 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B413 tests
Congenital muscular hypertrophy-cerebral syndrome8 tests
Congenital myasthenic syndrome 122 tests
Congenital myasthenic syndrome 132 tests
Congenital myasthenic syndrome 1B, fast-channel4 tests
Congenital myasthenic syndrome, acetazolamide-responsive4 tests
Congenital myopathy with fiber type disproportion5 tests
Congenital ocular coloboma6 tests
Congenital primary aphakia4 tests
Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
Congenital stationary night blindness1 test
Congenital stationary night blindness, autosomal dominant 17 tests
Congenital stationary night blindness, autosomal dominant 25 tests
Congenital stationary night blindness, autosomal dominant 34 tests
Congenital stationary night blindness, type 1A4 tests
Congenital stationary night blindness, type 1B4 tests
Congenital stationary night blindness, type 1C4 tests
Congenital stationary night blindness, type 1D4 tests
Congenital stationary night blindness, type 1E4 tests
Congenital stationary night blindness, type 1F4 tests
Congenital stationary night blindness, type 2A6 tests
Congenital stationary night blindness, type 2B7 tests
Conotruncal heart malformations5 tests
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility2 tests
Cornelia de Lange syndrome 19 tests
Cornelia de Lange syndrome 33 tests
Cornelia de Lange syndrome 42 tests
Cornelia de Lange syndrome 52 tests
Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia3 tests
Corpus callosum, partial agenesis of, X-linked5 tests
Cortical dysplasia, complex, with other brain malformations 13 tests
Cortical malformations, occipital3 tests
Costello syndrome7 tests
Cousin syndrome2 tests
Cowden syndrome8 tests
Cowden syndrome 11 test
Cowden syndrome 36 tests
Coxa plana8 tests
Craniodiaphyseal dysplasia, autosomal dominant2 tests
Cranioectodermal dysplasia 13 tests
Cranioectodermal dysplasia 25 tests
Cranioectodermal dysplasia 32 tests
Cranioectodermal dysplasia 42 tests
Craniometaphyseal dysplasia, autosomal dominant5 tests
Crigler-Najjar syndrome1 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome4 tests
Crouzon syndrome with acanthosis nigricans6 tests
Cryptophthalmos syndrome4 tests
Curry-Hall syndrome5 tests
Cushing's syndrome3 tests
Cutaneous malignant melanoma 17 tests
Cutaneous malignant melanoma 24 tests
Cutaneous malignant melanoma 32 tests
Cutaneous malignant melanoma 92 tests
Cutaneous telangiectasia and cancer syndrome, familial1 test
Cutis Gyrata syndrome of Beare and Stevenson4 tests
Cutis laxa with osteodystrophy8 tests
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities3 tests
Cutis laxa, X-linked1 test
Cutis laxa, autosomal dominant 17 tests
Cutis laxa, autosomal dominant 25 tests
Cyclical neutropenia2 tests
Cystic fibrosis17 tests
Cystinosis, atypical nephropathic1 test
Cystinosis, ocular nonnephropathic1 test
Cytochrome c oxidase i deficiency1 test
Czech dysplasia metatarsal type10 tests
DE SANCTIS-CACCHIONE SYNDROME1 test
DFNA 2 Nonsyndromic Hearing Loss2 tests
Dandy-Walker like malformation with atrioventricular septal defect2 tests
Danon disease15 tests
Deafness and myopia1 test
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)2 tests
Deafness, X-linked 15 tests
Deafness, X-linked 22 tests
Deafness, X-linked 42 tests
Deafness, X-linked 51 test
Deafness, X-linked 61 test
Deafness, autosomal dominant 12 tests
Deafness, autosomal dominant 102 tests
Deafness, autosomal dominant 117 tests
Deafness, autosomal dominant 122 tests
Deafness, autosomal dominant 138 tests
Deafness, autosomal dominant 205 tests
Deafness, autosomal dominant 222 tests
Deafness, autosomal dominant 232 tests
Deafness, autosomal dominant 252 tests
Deafness, autosomal dominant 282 tests
Deafness, autosomal dominant 2b2 tests
Deafness, autosomal dominant 362 tests
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 12 tests
Deafness, autosomal dominant 3a2 tests
Deafness, autosomal dominant 3b2 tests
Deafness, autosomal dominant 42 tests
Deafness, autosomal dominant 411 test
Deafness, autosomal dominant 442 tests
Deafness, autosomal dominant 482 tests
Deafness, autosomal dominant 4b2 tests
Deafness, autosomal dominant 52 tests
Deafness, autosomal dominant 642 tests
Deafness, autosomal dominant 651 test
Deafness, autosomal dominant 671 test
Deafness, autosomal dominant 681 test
Deafness, autosomal dominant 92 tests
Deafness, autosomal dominant nonsyndromic sensorineural 172 tests
Deafness, autosomal recessive 1011 test
Deafness, autosomal recessive 1021 test
Deafness, autosomal recessive 1031 test
Deafness, autosomal recessive 1041 test
Deafness, autosomal recessive 127 tests
Deafness, autosomal recessive 152 tests
Deafness, autosomal recessive 187 tests
Deafness, autosomal recessive 18b1 test
Deafness, autosomal recessive 1A4 tests
Deafness, autosomal recessive 1b2 tests
Deafness, autosomal recessive 27 tests
Deafness, autosomal recessive 212 tests
Deafness, autosomal recessive 222 tests
Deafness, autosomal recessive 237 tests
Deafness, autosomal recessive 242 tests
Deafness, autosomal recessive 252 tests
Deafness, autosomal recessive 282 tests
Deafness, autosomal recessive 292 tests
Deafness, autosomal recessive 32 tests
Deafness, autosomal recessive 302 tests
Deafness, autosomal recessive 317 tests
Deafness, autosomal recessive 352 tests
Deafness, autosomal recessive 372 tests
Deafness, autosomal recessive 392 tests
Deafness, autosomal recessive 422 tests
Deafness, autosomal recessive 441 test
Deafness, autosomal recessive 483 tests
Deafness, autosomal recessive 492 tests
Deafness, autosomal recessive 538 tests
Deafness, autosomal recessive 592 tests
Deafness, autosomal recessive 62 tests
Deafness, autosomal recessive 612 tests
Deafness, autosomal recessive 632 tests
Deafness, autosomal recessive 661 test
Deafness, autosomal recessive 672 tests
Deafness, autosomal recessive 72 tests
Deafness, autosomal recessive 742 tests
Deafness, autosomal recessive 761 test
Deafness, autosomal recessive 772 tests
Deafness, autosomal recessive 792 tests
Deafness, autosomal recessive 82 tests
Deafness, autosomal recessive 84b1 test
Deafness, autosomal recessive 864 tests
Deafness, autosomal recessive 881 test
Deafness, autosomal recessive 891 test
Deafness, autosomal recessive 92 tests
Deafness, autosomal recessive 912 tests
Deafness, autosomal recessive 931 test
Deafness, autosomal recessive 981 test
Deafness, digenic, GJB2/GJB64 tests
Deafness, nonsyndromic sensorineural, mitochondrial2 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of N-acetylglucosamine-1-phosphotransferase3 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase6 tests
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of alpha-mannosidase8 tests
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of butyryl-CoA dehydrogenase3 tests
Deficiency of galactokinase4 tests
Deficiency of glycerol kinase3 tests
Deficiency of guanidinoacetate methyltransferase3 tests
Deficiency of hyaluronoglucosaminidase2 tests
Deficiency of hydroxymethylglutaryl-CoA lyase4 tests
Deficiency of isobutyryl-CoA dehydrogenase3 tests
Deficiency of malonyl-CoA decarboxylase3 tests
Deficiency of steroid 17-alpha-monooxygenase2 tests
Dejerine-Sottas disease2 tests
Dent disease 12 tests
Dent disease 21 test
Denticles2 tests
Dentinogenesis imperfecta - Shield's type II2 tests
Dentinogenesis imperfecta - Shield's type III2 tests
Dermatofibrosis lenticularis disseminata2 tests
Desbuquois dysplasia 13 tests
Desmoid disease, hereditary2 tests
Desmosterolosis3 tests
Developmental delay1 test
DiGeorge sequence1 test
DiGeorge syndrome/velocardiofacial syndrome complex 23 tests
Diabetes mellitus AND insipidus with optic atrophy AND deafness4 tests
Diabetes mellitus type 13 tests
Diabetes mellitus type 28 tests
Diabetes mellitus, insulin-dependent, 22 tests
Diabetes mellitus, insulin-dependent, 203 tests
Diabetes mellitus, ketosis-prone2 tests
Diabetes mellitus, neonatal, with congenital hypothyroidism2 tests
Diabetes mellitus, noninsulin-dependent, 11 test
Diabetes mellitus, permanent neonatal, with cerebellar agenesis2 tests
Diaphyseal dysplasia2 tests
Diarrhea 5, with tufting enteropathy, congenital1 test
Diastrophic dysplasia4 tests
Diffuse Gastric Cancer Syndrome2 tests
Diffuse mesangial sclerosis2 tests
Digital arthropathy-brachydactyly, familial3 tests
Digital clubbing, isolated congenital2 tests
Digitorenocerebral syndrome3 tests
Dihydropteridine reductase deficiency1 test
Dihydropyrimidinase deficiency1 test
Dihydropyrimidine dehydrogenase deficiency2 tests
Dilated cardiomyopathy 1A12 tests
Dilated cardiomyopathy 1AA4 tests
Dilated cardiomyopathy 1BB6 tests
Dilated cardiomyopathy 1C6 tests
Dilated cardiomyopathy 1CC4 tests
Dilated cardiomyopathy 1DD4 tests
Dilated cardiomyopathy 1E10 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF5 tests
Dilated cardiomyopathy 1G10 tests
Dilated cardiomyopathy 1HH4 tests
Dilated cardiomyopathy 1I5 tests
Dilated cardiomyopathy 1II4 tests
Dilated cardiomyopathy 1J2 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK4 tests
Dilated cardiomyopathy 1L10 tests
Dilated cardiomyopathy 1LL3 tests
Dilated cardiomyopathy 1M4 tests
Dilated cardiomyopathy 1N8 tests
Dilated cardiomyopathy 1O2 tests
Dilated cardiomyopathy 1P4 tests
Dilated cardiomyopathy 1R5 tests
Dilated cardiomyopathy 1S7 tests
Dilated cardiomyopathy 1W4 tests
Dilated cardiomyopathy 1X15 tests
Dilated cardiomyopathy 1Y5 tests
Dilated cardiomyopathy 1Z5 tests
Dilated cardiomyopathy 2A5 tests
Dilated cardiomyopathy 3B10 tests
Dilated cardiomyopathy with woolly hair and keratoderma6 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome12 tests
Disorder of amino acid metabolism5 tests
Disorder of fatty acid metabolism4 tests
Disorder of organic acid metabolism5 tests
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency2 tests
Distal arthrogryposis type 1A3 tests
Distal arthrogryposis type 2B5 tests
Distal hereditary motor neuronopathy type 2A2 tests
Distal hereditary motor neuronopathy type 2B2 tests
Distal hereditary motor neuronopathy type 56 tests
Distal hereditary motor neuronopathy type 5B2 tests
Distal hereditary motor neuronopathy type 7B2 tests
Distal myopathy Markesbery-Griggs type8 tests
Distal myopathy, Tateyama type9 tests
Distal spinal muscular atrophy, X-linked 31 test
Distal spinal muscular atrophy, autosomal recessive 42 tests
Distal spinal muscular atrophy, congenital nonprogressive3 tests
Dizygotic twins1 test
Dominant hereditary optic atrophy5 tests
Doyne honeycomb retinal dystrophy4 tests
Drash syndrome7 tests
Duane-radial ray syndrome4 tests
Dubin-Johnson syndrome1 test
Duchenne muscular dystrophy14 tests
Dyggve-Melchior-Clausen syndrome3 tests
Dyskeratosis congenita X-linked3 tests
Dyskeratosis congenita, autosomal dominant, 22 tests
Dysmorphic features4 tests
Dysostosis multiplex2 tests
Dystonia 11 test
Dystonia 102 tests
Dystonia 271 test
Dystonia 3, torsion, X-linked1 test
Dystonia 6, torsion1 test
Dystonia 95 tests
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive1 test
Dystonia, primary cervical1 test
Dystransthyretinemic euthyroidal hyperthyroxinemia5 tests
Dystrophinopathies2 tests
EEM syndrome6 tests
Early infantile epileptic encephalopathy 107 tests
Early infantile epileptic encephalopathy 113 tests
Early infantile epileptic encephalopathy 123 tests
Early infantile epileptic encephalopathy 133 tests
Early infantile epileptic encephalopathy 143 tests
Early infantile epileptic encephalopathy 155 tests
Early infantile epileptic encephalopathy 163 tests
Early infantile epileptic encephalopathy 26 tests
Early infantile epileptic encephalopathy 43 tests
Early infantile epileptic encephalopathy 53 tests
Early infantile epileptic encephalopathy 73 tests
Early infantile epileptic encephalopathy 86 tests
Early infantile epileptic encephalopathy 98 tests
Early myoclonic encephalopathy3 tests
Early repolarization associated with ventricular fibrillation2 tests
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia, X-linked1 test
Ectopia lentis, isolated, autosomal dominant7 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 32 tests
Ehlers-Danlos syndrome2 tests
Ehlers-Danlos syndrome progeroid type4 tests
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form4 tests
Ehlers-Danlos syndrome, classic type8 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
Ehlers-Danlos syndrome, musculocontractural type7 tests
Ehlers-Danlos syndrome, procollagen proteinase deficient7 tests
Ehlers-Danlos syndrome, progeroid type, 23 tests
Ehlers-Danlos syndrome, type 33 tests
Ehlers-Danlos syndrome, type 43 tests
Ehlers-Danlos syndrome, type vii, autosomal recessive2 tests
Eichsfeld type congenital muscular dystrophy7 tests
Eiken skeletal dysplasia3 tests
Elevated serum creatine phosphokinase9 tests
Emery-Dreifuss muscular dystrophy 1, X-linked9 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 61 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant6 tests
Emery-Dreifuss muscular dystrophy, X-linked2 tests
Encephalopathy, progressive, with or without lipodystrophy2 tests
Endocrine-cerebroosteodysplasia3 tests
Endometrial carcinoma12 tests
Endplate acetylcholinesterase deficiency4 tests
Enhanced s-cone syndrome3 tests
Enlarged vestibular aqueduct5 tests
Epidermal nevus9 tests
Epidermal nevus syndrome4 tests
Epidermolysa bullosa simplex and limb girdle muscular dystrophy6 tests
Epidermolysis bullosa1 test
Epidermolysis bullosa simplex with pyloric atresia6 tests
Epidermolysis bullosa simplex, Ogna type6 tests
Epidermolysis bullosa, lethal acantholytic6 tests
Epilepsy juvenile absence1 test
Epilepsy, X-linked, with variable learning disabilities and behavior disorders6 tests
Epilepsy, childhood absence 52 tests
Epilepsy, familial temporal lobe, 53 tests
Epilepsy, focal, with speech disorder and with or without mental retardation3 tests
Epilepsy, lateral temporal lobe, autosomal dominant3 tests
Epilepsy, nocturnal frontal lobe, 53 tests
Epilepsy, nocturnal frontal lobe, type 13 tests
Epilepsy, nocturnal frontal lobe, type 33 tests
Epilepsy, nocturnal frontal lobe, type 43 tests
Epilepsy, progressive myoclonic 37 tests
Epilepsy, progressive myoclonic 4, with or without renal failure3 tests
Epilepsy, progressive myoclonic 52 tests
Epilepsy, progressive myoclonic 63 tests
Epileptic encephalopathy, early infantile, 19 tests
Epileptic encephalopathy, early infantile, 191 test
Epileptic encephalopathy, early infantile, 362 tests
Epiphyseal dysplasia, multiple, with myopia and conductive deafness10 tests
Episodic ataxia1 test
Episodic ataxia type 14 tests
Episodic ataxia type 22 tests
Episodic ataxia, type 55 tests
Episodic ataxia, type 62 tests
Erythrocyte AMP deaminase deficiency4 tests
Erythrocytosis, familial, 24 tests
Erythrokeratodermia variabilis2 tests
Essential thrombocythemia2 tests
Ethylmalonic encephalopathy1 test
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
Exudative vitreoretinopathy 13 tests
Exudative vitreoretinopathy 47 tests
Exudative vitreoretinopathy 54 tests
FG syndrome5 tests
FG syndrome 212 tests
FLNA related disorders1 test
FRAXE5 tests
Fabry disease15 tests
Facioscapulohumeral muscular dystrophy 21 test
Failure of tooth eruption, primary3 tests
Familial Mediterranean fever4 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Familial adenomatous polyposis 14 tests
Familial amyloid nephropathy with urticaria AND deafness2 tests
Familial atrial fibrillation2 tests
Familial benign pemphigus1 test
Familial cancer of breast4 tests
Familial cold urticaria2 tests
Familial colorectal cancer6 tests
Familial dysautonomia7 tests
Familial expansile osteolysis3 tests
Familial exudative vitreoretinopathy, X-linked7 tests
Familial febrile seizures 83 tests
Familial gynecomastia, due to increased aromatase activity2 tests
Familial hemiplegic migraine type 12 tests
Familial hemiplegic migraine type 23 tests
Familial hemiplegic migraine type 37 tests
Familial hemophagocytic lymphohistiocytosis1 test
Familial hyperaldosteronism type 32 tests
Familial hypercholesterolemia1 test
Familial hypertrophic cardiomyopathy 113 tests
Familial hypertrophic cardiomyopathy 105 tests
Familial hypertrophic cardiomyopathy 115 tests
Familial hypertrophic cardiomyopathy 124 tests
Familial hypertrophic cardiomyopathy 135 tests
Familial hypertrophic cardiomyopathy 142 tests
Familial hypertrophic cardiomyopathy 154 tests
Familial hypertrophic cardiomyopathy 164 tests
Familial hypertrophic cardiomyopathy 174 tests
Familial hypertrophic cardiomyopathy 184 tests
Familial hypertrophic cardiomyopathy 25 tests
Familial hypertrophic cardiomyopathy 204 tests
Familial hypertrophic cardiomyopathy 232 tests
Familial hypertrophic cardiomyopathy 35 tests
Familial hypertrophic cardiomyopathy 45 tests
Familial hypertrophic cardiomyopathy 67 tests
Familial hypertrophic cardiomyopathy 75 tests
Familial hypertrophic cardiomyopathy 85 tests
Familial hypertrophic cardiomyopathy 910 tests
Familial hypoplastic, glomerulocystic kidney3 tests
Familial infantile myasthenia4 tests
Familial juvenile gout2 tests
Familial mediterranean fever, autosomal dominant5 tests
Familial medullary thyroid carcinoma7 tests
Familial multiple polyposis syndrome4 tests
Familial pancreatic carcinoma1 test
Familial partial lipodystrophy 212 tests
Familial partial lipodystrophy 32 tests
Familial partial lipodystrophy 52 tests
Familial restrictive cardiomyopathy 15 tests
Familial restrictive cardiomyopathy 35 tests
Fanconi anemia3 tests
Fanconi anemia, complementation group B3 tests
Fanconi anemia, complementation group C3 tests
Fanconi anemia, complementation group D12 tests
Fanconi anemia, complementation group J2 tests
Fanconi anemia, complementation group N4 tests
Fanconi anemia, complementation group O2 tests
Fanconi anemia, complementation group U3 tests
Fanconi-Bickel syndrome6 tests
Farber disease1 test
Febrile seizures, familial, 113 tests
Febrile seizures, familial, 410 tests
Feingold syndrome 13 tests
Fibrochondrogenesis10 tests
Fibrochondrogenesis 28 tests
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement3 tests
Fibular hypoplasia and complex brachydactyly4 tests
Fleck retina, familial benign5 tests
Floating-Harbor syndrome1 test
Focal cortical dysplasia type II8 tests
Focal dermal hypoplasia3 tests
Follicular thyroid carcinoma10 tests
Foveal hypoplasia and presenile cataract syndrome6 tests
Fragile X syndrome11 tests
Fragile X tremor/ataxia syndrome4 tests
Frank Ter Haar syndrome3 tests
Frasier syndrome4 tests
Friedreich ataxia 12 tests
Frontometaphyseal dysplasia10 tests
Frontotemporal dementia, ubiquitin-positive4 tests
Fructose-biphosphatase deficiency4 tests
Fucosidosis7 tests
Fuhrmann syndrome2 tests
Fukuyama congenital muscular dystrophy15 tests
Fumarase deficiency5 tests
GLUT1 deficiency syndrome 17 tests
GLUT1 deficiency syndrome 25 tests
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY2 tests
GM1 gangliosidosis5 tests
GM1 gangliosidosis type 22 tests
GM2-gangliosidosis, B, B1, AB variant1 test
GRACILE syndrome1 test
Galactosemia2 tests
Galactosylceramide beta-galactosidase deficiency7 tests
Gallbladder disease 41 test
Gamma-aminobutyric acid transaminase deficiency2 tests
Gangliosidosis GM1 type 32 tests
Gardner syndrome2 tests
Gastrointestinal stroma tumor4 tests
Gaucher disease12 tests
Gaucher disease type 3C2 tests
Gaucher disease, atypical, due to saposin C deficiency3 tests
Gaucher disease, perinatal lethal2 tests
Gaucher's disease, type 12 tests
Geleophysic dysplasia 27 tests
Generalized epilepsy and paroxysmal dyskinesia3 tests
Generalized epilepsy with febrile seizures plus, type 17 tests
Generalized epilepsy with febrile seizures plus, type 27 tests
Generalized epilepsy with febrile seizures plus, type 73 tests
Geroderma osteodysplastica2 tests
Ghosal syndrome2 tests
Giant axonal neuropathy2 tests
Gilbert's syndrome1 test
Gillespie syndrome6 tests
Gingival fibromatosis 14 tests
Glaucoma 3, primary congenital, A4 tests
Glaucoma 3, primary congenital, d1 test
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset1 test
Glaucoma, normal tension, susceptibility to2 tests
Glioma susceptibility 32 tests
Global developmental delay4 tests
Glomerulocystic kidney disease with hyperuricemia and isosthenuria2 tests
Glucocorticoid deficiency with achalasia1 test
Glucose 6 phosphate dehydrogenase deficiency2 tests
Glucose-6-phosphate transport defect8 tests
Glutaric aciduria, type 15 tests
Glutaric aciduria, type 24 tests
Glutaryl-CoA oxidase deficiency1 test
Glycogen storage disease4 tests
Glycogen storage disease 0, muscle5 tests
Glycogen storage disease II, adult form3 tests
Glycogen storage disease IIIa1 test
Glycogen storage disease IXb6 tests
Glycogen storage disease IXc4 tests
Glycogen storage disease of heart, lethal congenital9 tests
Glycogen storage disease type 135 tests
Glycogen storage disease type 1A6 tests
Glycogen storage disease type III7 tests
Glycogen storage disease type IXa14 tests
Glycogen storage disease type X4 tests
Glycogen storage disease, type II17 tests
Glycogen storage disease, type IV7 tests
Glycogen storage disease, type V15 tests
Glycogen storage disease, type VI5 tests
Glycogen storage disease, type VII5 tests
Glycosylphosphatidylinositol deficiency2 tests
Gnathodiaphyseal dysplasia10 tests
Goldberg-Shprintzen megacolon syndrome3 tests
Gonadotropin-independent familial sexual precocity2 tests
Gorlin syndrome4 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III2 tests
Grebe syndrome4 tests
Greig cephalopolysyndactyly syndrome5 tests
Griscelli syndrome type 21 test
Growth hormone insensitivity with immunodeficiency3 tests
Guillain-Barre syndrome, familial2 tests
Haim-Munk syndrome1 test
Hajdu-Cheney syndrome3 tests
Hamartoma of hypothalamus5 tests
Hay-Wells syndrome of ectodermal dysplasia2 tests
Heart-hand syndrome, Slovenian type12 tests
Heme oxygenase 1 deficiency1 test
Hemochromatosis type 13 tests
Hemophagocytic lymphohistiocytosis, familial, 21 test
Hemophagocytic lymphohistiocytosis, familial, 31 test
Hemophagocytic lymphohistiocytosis, familial, 41 test
Hemophagocytic lymphohistiocytosis, familial, 53 tests
Hepatic adenomas, familial3 tests
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency1 test
Hepatic methionine adenosyltransferase deficiency1 test
Hepatocellular carcinoma2 tests
Hereditary breast and ovarian cancer syndrome3 tests
Hereditary cancer-predisposing syndrome1 test
Hereditary diffuse gastric cancer10 tests
Hereditary factor IX deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria1 test
Hereditary gingival fibromatosis2 tests
Hereditary hearing loss and deafness2 tests
Hereditary hemorrhagic telangiectasia type 22 tests
Hereditary insensitivity to pain with anhidrosis2 tests
Hereditary liability to pressure palsies2 tests
Hereditary mixed polyposis syndrome 12 tests
Hereditary mixed polyposis syndrome 22 tests
Hereditary motor and sensory neuropathy with optic atrophy3 tests
Hereditary myopathy with early respiratory failure8 tests
Hereditary nonpolyposis colorectal cancer type 44 tests
Hereditary nonpolyposis colorectal cancer type 58 tests
Hereditary nonpolyposis colorectal cancer type 63 tests
Hereditary nonpolyposis colorectal cancer type 82 tests
Hereditary pancreatitis7 tests
Hereditary sensory and autonomic neuropathy type IC1 test
Hereditary sensory and autonomic neuropathy type IIA2 tests
Hereditary sensory and autonomic neuropathy type IIB2 tests
Hereditary sensory neuropathy type 1D2 tests
Hereditary sensory neuropathy type IE2 tests
Hermansky Pudlak syndrome 23 tests
Hermansky-Pudlak syndrome1 test
Hermansky-Pudlak syndrome 14 tests
Hermansky-Pudlak syndrome 32 tests
Hermansky-Pudlak syndrome 46 tests
Hermansky-Pudlak syndrome 51 test
Hermansky-Pudlak syndrome 64 tests
Hermansky-Pudlak syndrome 72 tests
Hermansky-Pudlak syndrome 82 tests
Hermansky-Pudlak syndrome 93 tests
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, X-linked2 tests
Heterotopia, periventricular, autosomal recessive3 tests
Hidrotic ectodermal dysplasia syndrome2 tests
Hirschsprung disease ganglioneuroblastoma2 tests
Histiocytic medullary reticulosis3 tests
Histiocytosis-lymphadenopathy plus syndrome2 tests
Holocarboxylase synthetase deficiency4 tests
Holoprosencephaly 23 tests
Holoprosencephaly 35 tests
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Holoprosencephaly 74 tests
Holoprosencephaly 92 tests
Holt-Oram syndrome2 tests
Homocysteinemia due to MTHFR deficiency2 tests
Homocystinuria1 test
Homocystinuria due to CBS deficiency9 tests
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
Huntington's chorea1 test
Hutchinson-Gilford syndrome12 tests
Hydatidiform mole1 test
Hydrolethalus syndrome 12 tests
Hydrolethalus syndrome 210 tests
Hyperammonemia, type III1 test
Hypercholanemia, familial3 tests
Hyperhomocysteinemia1 test
Hyperimmunoglobulin D with periodic fever4 tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3 tests
Hyperimmunoglobulin E syndrome3 tests
Hyperinsulinemic hypoglycemia familial 33 tests
Hyperinsulinemic hypoglycemia familial 53 tests
Hyperinsulinemic hypoglycemia, familial, 44 tests
Hyperkalemic Periodic Paralysis Type 14 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperparathyroidism2 tests
Hyperparathyroidism 12 tests
Hyperparathyroidism 22 tests
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 test
Hyperphosphatasemia tarda2 tests
Hyperphosphatasemia with bone disease2 tests
Hyperphosphatasia with mental retardation syndrome 14 tests
Hyperphosphatasia with mental retardation syndrome 22 tests
Hypertrichotic osteochondrodysplasia2 tests
Hypocalcemia, autosomal dominant 14 tests
Hypocalciuric hypercalcemia, familial, type 14 tests
Hypoceruloplasminemia1 test
Hypochondroplasia6 tests
Hypoglycemia with deficiency of glycogen synthetase in the liver5 tests
Hypoglycemia, neonatal, simulating foetopathia diabetica2 tests
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
Hypogonadotropic hypogonadism 10 with or without anosmia2 tests
Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
Hypogonadotropic hypogonadism 13 with or without anosmia2 tests
Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
Hypogonadotropic hypogonadism 9 with or without anosmia2 tests
Hypokalemic periodic paralysis, type 24 tests
Hypomyelination, global cerebral1 test
Hypoparathyroidism retardation dysmorphism syndrome4 tests
Hypophosphatemic rickets, X-linked recessive2 tests
Hypophosphatemic rickets, autosomal recessive, 22 tests
Hypoplastic left heart syndrome 27 tests
Hypothyroidism, congenital, nongoitrous, 53 tests
Hypotrichosis 71 test
Hystrix-like ichthyosis with deafness2 tests
I cell disease4 tests
IFAP syndrome with or without BRESHECK syndrome3 tests
IVIC syndrome4 tests
Ichthyosis prematurity syndrome1 test
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis1 test
Ichthyosis, spastic quadriplegia, and mental retardation3 tests
Idiopathic basal ganglia calcification 11 test
Idiopathic fibrosing alveolitis, chronic form2 tests
Idiopathic generalized epilepsy2 tests
Ige responsiveness, atopic2 tests
Immune dysfunction with T-cell inactivation due to calcium entry defect 11 test
Immune dysfunction with T-cell inactivation due to calcium entry defect 22 tests
Immunodeficiency 134 tests
Immunodeficiency 182 tests
Immunodeficiency 192 tests
Immunodeficiency due to defect in cd3-zeta1 test
Immunodeficiency with hyper IgM type 12 tests
Immunodeficiency with hyper IgM type 22 tests
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia1 test
Inclusion body myopathy 27 tests
Inclusion body myopathy 32 tests
Indifference to pain, congenital, autosomal recessive3 tests
Infantile GM1 gangliosidosis2 tests
Infantile Parkinsonism-dystonia1 test
Infantile Refsum's disease2 tests
Infantile convulsions and paroxysmal choreoathetosis, familial2 tests
Infantile cortical hyperostosis7 tests
Infantile hypophosphatasia1 test
Infantile myofibromatosis 11 test
Infantile nephronophthisis10 tests
Infertility4 tests
Infertility due to oligospermia2 tests
Inflammatory bowel disease 11 test
Inflammatory bowel disease 141 test
Inflammatory bowel disease 28, autosomal recessive2 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome4 tests
Insulin-like growth factor 1 resistance to