PreventionGenetics (PreventionGenetics)

General information

PreventionGenetics
PreventionGenetics
3800 S Business Park Ave
Marshfield
Wisconsin
United States - 54449
https://www.preventiongenetics.com/
Organization ID: 239772

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 18417

Gene

GeneSubmissionsLast Updated
ABCA1215Apr 28, 2016
ABCA442Apr 28, 2016
ABCB1121Apr 28, 2016
ABCB416Apr 28, 2016
ABCC23Apr 28, 2016
ABCC832Apr 28, 2016
ABCC913Apr 28, 2016
ABCD14Apr 28, 2016
ABCD32Apr 28, 2016
ABCD44Apr 28, 2016
ABHD14A-ACY14Apr 28, 2016
ACADM12Apr 28, 2016
ACADS6Apr 28, 2016
ACADVL19Apr 28, 2016
ACBD53Apr 28, 2016
ACBD62Apr 28, 2016
ACE12Apr 28, 2016
ACO27Apr 28, 2016
ACOX14Apr 28, 2016
ACP53Apr 28, 2016
ACTA113Apr 28, 2016
ACTA23Apr 28, 2016
ACTC13Apr 28, 2016
ACTN25Apr 28, 2016
ACTN419Apr 28, 2016
ACVR13Apr 28, 2016
ACVR2B10Apr 28, 2016
ACVRL110Apr 28, 2016
ACY14Apr 28, 2016
ADA3Apr 28, 2016
ADAM93Apr 28, 2016
ADAMTS1332Apr 28, 2016
ADAMTSL46Apr 28, 2016
ADAMTSL4-AS23Apr 28, 2016
ADAR5Apr 28, 2016
ADGRG116Apr 28, 2016
ADGRV137Apr 28, 2016
ADNP-AS11Apr 28, 2016
ADSL3Apr 28, 2016
AGA3Apr 28, 2016
AGL38Apr 28, 2016
AGPAT26Apr 28, 2016
AGPS3Apr 28, 2016
AGRN81Apr 28, 2016
AGT2Apr 28, 2016
AGTR12Apr 28, 2016
AGXT12Apr 28, 2016
AHI147Apr 28, 2016
AICDA2Apr 28, 2016
AIP3Apr 28, 2016
AIPL18Apr 28, 2016
AIRE10Apr 28, 2016
AKAP914Apr 28, 2016
AKR1D14Apr 28, 2016
ALAS21Apr 28, 2016
ALDH18A15Apr 28, 2016
ALDH1A33Apr 28, 2016
ALDH1A3-AS13Apr 28, 2016
ALDH7A16Apr 28, 2016
ALDOB4Apr 28, 2016
ALG128Apr 28, 2016
ALG23Apr 28, 2016
ALG32Apr 28, 2016
ALG62Apr 28, 2016
ALG89Apr 28, 2016
ALK15Apr 28, 2016
ALMS112Apr 28, 2016
ALOX12B1Apr 28, 2016
ALOXE34Apr 28, 2016
ALPL16Apr 28, 2016
ALS216Apr 28, 2016
ALX31Apr 28, 2016
AMELX1Apr 28, 2016
AMT2Apr 28, 2016
ANG1Apr 28, 2016
ANK134Apr 28, 2016
ANK213Apr 28, 2016
ANKIB12Oct 12, 2018
ANKRD11Apr 28, 2016
ANKRD2621Apr 28, 2016
ANKS624Apr 28, 2016
ANLN4Apr 28, 2016
ANO102Apr 28, 2016
ANO521Apr 28, 2016
ANO610Apr 28, 2016
ANOS12Apr 28, 2016
ANTXR11Apr 28, 2016
AOPEP4Apr 28, 2016
AP2S11Apr 28, 2016
AP3B110Apr 28, 2016
APC135Jan 29, 2018
APOB35Apr 28, 2016
APRT1Apr 28, 2016
APTX2Apr 28, 2016
AQP24Apr 28, 2016
AR3Apr 28, 2016
ARFGEF28Apr 28, 2016
ARG11Apr 28, 2016
ARHGAP61Apr 28, 2016
ARHGEF2824Apr 28, 2016
ARL13B6Apr 28, 2016
ARL64Apr 28, 2016
ARSA11Apr 28, 2016
ARSB8Apr 28, 2016
ARSL8Apr 28, 2016
ARVCF1Apr 28, 2016
ARX2Apr 28, 2016
ASAH111Apr 28, 2016
ASCL17Apr 28, 2016
ASL3Apr 28, 2016
ASPA2Apr 28, 2016
ASPM19Apr 28, 2016
ASS114Apr 28, 2016
ASTN24Apr 28, 2016
ATM164Jan 29, 2018
ATP13A215Apr 28, 2016
ATP1A28Apr 28, 2016
ATP6V0A27Apr 28, 2016
ATP6V0A47Apr 28, 2016
ATP6V1B13Apr 28, 2016
ATP6V1B1-AS11Apr 28, 2016
ATP7A6Apr 28, 2016
ATP7B36Apr 28, 2016
ATP8B115Apr 28, 2016
ATRIP2Apr 28, 2016
ATRIP-TREX12Apr 28, 2016
ATRX2Apr 28, 2016
AUH4Apr 28, 2016
AVPR26Apr 28, 2016
AXDND13Apr 28, 2016
AXIN29Apr 28, 2016
B3GALNT24Apr 28, 2016
B3GLCT6Apr 28, 2016
B3GNT41Apr 28, 2016
B4GAT12Apr 28, 2016
B9D16Apr 28, 2016
B9D26Apr 28, 2016
BAAT4Apr 28, 2016
BAG315Apr 28, 2016
BAP18Apr 28, 2016
BARD140Jan 29, 2018
BBS113Apr 28, 2016
BBS1010Apr 28, 2016
BBS1218Apr 28, 2016
BBS212Apr 28, 2016
BBS419Apr 28, 2016
BBS58Apr 28, 2016
BBS77Apr 28, 2016
BBS927Apr 28, 2016
BCHE1Apr 28, 2016
BCKDHA12Apr 28, 2016
BCKDHB5Apr 28, 2016
BCKDK3Apr 28, 2016
BCOR5Apr 28, 2016
BDNF1Apr 28, 2016
BDNF-AS1Apr 28, 2016
BDNF-AS11Apr 28, 2016
BEST16Apr 28, 2016
BFSP16Apr 28, 2016
BFSP21Apr 28, 2016
BFSP2-AS11Apr 28, 2016
BIN125Apr 28, 2016
BIVM-ERCC58Apr 28, 2016
BLK11Apr 28, 2016
BLM15Apr 28, 2016
BLOC1S1-RDH53Apr 28, 2016
BLOC1S34Apr 28, 2016
BMP11Apr 28, 2016
BMP157Apr 28, 2016
BMP25Apr 28, 2016
BMP41Apr 28, 2016
BMPR1A19Jan 29, 2018
BMPR25Apr 28, 2016
BRAF17Apr 28, 2016
BRCA1104Jan 29, 2018
BRCA2183Jan 29, 2018
BRIP145Jan 29, 2018
BSCL26Apr 28, 2016
BSND5Apr 28, 2016
BTD2Apr 28, 2016
BTK1Apr 28, 2016
BUB1B11Apr 28, 2016
BUB1B-PAK62Apr 28, 2016
C10orf1053Apr 28, 2016
C11orf6546Jan 29, 2018
C12orf293Apr 28, 2016
C17orf10713Apr 28, 2016
C1QTNF56Apr 28, 2016
CA21Apr 28, 2016
CABP42Apr 28, 2016
CACNA1A17Apr 28, 2016
CACNA1C16Apr 28, 2016
CACNA1C-AS14Apr 28, 2016
CACNA1F4Apr 28, 2016
CACNA1S72Apr 28, 2016
CACNA2D13Apr 28, 2016
CACNA2D419Apr 28, 2016
CACNB26Apr 28, 2016
CAPN341Apr 28, 2016
CAPN52Apr 28, 2016
CASD14Apr 28, 2016
CASQ28Apr 28, 2016
CASR13Apr 28, 2016
CATIP-AS26Apr 28, 2016
CAV310Apr 28, 2016
CBL14Apr 28, 2016
CBS3Apr 28, 2016
CC2D2A42Apr 28, 2016
CCBE19Apr 28, 2016
CCDC1034Apr 28, 2016
CCDC3938Apr 28, 2016
CCDC4074Apr 28, 2016
CCDC5015Apr 28, 2016
CCDC652Apr 28, 2016
CCDC7815Apr 28, 2016
CCDC82Apr 28, 2016
CCM245Oct 12, 2018
CCNO1Apr 28, 2016
CD2AP14Apr 28, 2016
CDAN117Apr 28, 2016
CDC64Apr 28, 2016
CDC733Apr 28, 2016
CDCA7L6Apr 28, 2016
CDH163Jan 29, 2018
CDH1310Apr 28, 2016
CDH2349Apr 28, 2016
CDH23-AS15Apr 28, 2016
CDHR113Apr 28, 2016
CDIN15Apr 28, 2016
CDK49Jan 29, 2018
CDK5RAP29Apr 28, 2016
CDKL57Apr 28, 2016
CDKN1B3Apr 28, 2016
CDKN1C10Apr 28, 2016
CDKN2A24Dec 5, 2019
CDON28Apr 28, 2016
CDT19Apr 28, 2016
CEACAM166Apr 28, 2016
CEBPA2Apr 28, 2016
CENPJ10Apr 28, 2016
CEP1282Apr 28, 2016
CEP1525Apr 28, 2016
CEP16418Apr 28, 2016
CEP29068Dec 23, 2019
CEP414Apr 28, 2016
CERKL7Apr 28, 2016
CERS17Apr 28, 2016
CFAP4105Apr 28, 2016
CFAP5313Apr 28, 2016
CFL22Apr 28, 2016
CFTR40Apr 28, 2016
CFTR-AS18Apr 28, 2016
CHAT29Apr 28, 2016
CHD213Apr 28, 2016
CHD762Apr 28, 2016
CHEK229Nov 12, 2020
CHKB5Apr 28, 2016
CHKB-CPT1B5Apr 28, 2016
CHM1Apr 28, 2016
CHMP2B4Apr 28, 2016
CHMP4B2Apr 28, 2016
CHPT11Apr 28, 2016
CHRDL11Apr 28, 2016
CHRNA114Apr 28, 2016
CHRNA412Apr 28, 2016
CHRNB113Apr 28, 2016
CHRNB24Apr 28, 2016
CHRND12Apr 28, 2016
CHRNE30Apr 28, 2016
CHRNG13Apr 28, 2016
CHST142Apr 28, 2016
CIB26Apr 28, 2016
CLCN714Apr 28, 2016
CLDN15Apr 28, 2016
CLDN147Apr 28, 2016
CLDN166Apr 28, 2016
CLN32Apr 28, 2016
CLN58Apr 28, 2016
CLN64Apr 28, 2016
CLN82Apr 28, 2016
CLRN12Apr 28, 2016
CNGA34Apr 28, 2016
CNGB14Apr 28, 2016
CNGB317Apr 28, 2016
CNNM41Apr 28, 2016
CNTN121Apr 28, 2016
CNTNAP222Apr 28, 2016
COCH2Apr 28, 2016
COG42Apr 28, 2016
COL10A14Apr 28, 2016
COL11A144Apr 28, 2016
COL11A230Apr 28, 2016
COL12A141Apr 28, 2016
COL17A114Apr 28, 2016
COL18A137Apr 28, 2016
COL1A19Apr 28, 2016
COL1A28Apr 28, 2016
COL2A148Apr 28, 2016
COL3A140Apr 28, 2016
COL4A126Apr 28, 2016
COL4A21Apr 28, 2016
COL4A337Apr 28, 2016
COL4A437Apr 28, 2016
COL4A512Apr 28, 2016
COL4A615Apr 28, 2016
COL5A1127Feb 20, 2020
COL5A250Apr 28, 2016
COL6A196Apr 28, 2016
COL6A278Apr 28, 2016
COL6A3117Dec 20, 2016
COL7A114Apr 28, 2016
COL9A133Apr 28, 2016
COL9A241Apr 28, 2016
COL9A346Apr 28, 2016
COLQ19Apr 28, 2016
COMP11Apr 28, 2016
COMT4Apr 28, 2016
COQ212Apr 28, 2016
CP2Apr 28, 2016
CPA14Apr 28, 2016
CPLANE152Apr 28, 2016
CPS117Apr 28, 2016
CRB14Apr 28, 2016
CREBBP16Apr 28, 2016
CRPPA12Apr 28, 2016
CRPPA-AS15Apr 28, 2016
CRTAP2Apr 28, 2016
CRX2Apr 28, 2016
CRYAA3Apr 28, 2016
CRYAB2Apr 28, 2016
CRYBA14Apr 28, 2016
CRYBA45Apr 28, 2016
CRYBB23Apr 28, 2016
CRYBB33Apr 28, 2016
CRYGD5Apr 28, 2016
CRYM4Apr 28, 2016
CSF3R11Apr 28, 2016
CSRP33Apr 28, 2016
CSTB2Apr 28, 2016
CTC13Apr 28, 2016
CTDP15Apr 28, 2016
CTNS7Apr 28, 2016
CTRC5Apr 28, 2016
CTSC5Apr 28, 2016
CTSD8Apr 28, 2016
CTSF9Apr 28, 2016
CUL33Apr 28, 2016
CUL79Apr 28, 2016
CXCR41Apr 28, 2016
CYB5R33Apr 28, 2016
CYBA5Apr 28, 2016
CYBB1Apr 28, 2016
CYCS1Apr 28, 2016
CYP1B17Apr 28, 2016
CYP21A229Apr 28, 2016
CYP27A14Apr 28, 2016
CYP4F221Apr 28, 2016
CYP4V25Apr 28, 2016
DAG111Apr 28, 2016
DBT5Apr 28, 2016
DCHS17Apr 28, 2016
DCLRE1C4Apr 28, 2016
DCTN111Apr 28, 2016
DCX3Apr 28, 2016
DDR28Apr 28, 2016
DEPDC513Apr 28, 2016
DES16Apr 28, 2016
DGKE1Apr 28, 2016
DGUOK2Apr 28, 2016
DGUOK-AS11Apr 28, 2016
DHCR713Apr 28, 2016
DHODH4Apr 28, 2016
DIABLO2Apr 28, 2016
DIAPH17Apr 28, 2016
DICER1116Apr 22, 2019
DIS3L23Apr 28, 2016
DISP15Apr 28, 2016
DKC12Apr 28, 2016
DLD3Apr 28, 2016
DLG41Apr 28, 2016
DLL312Apr 28, 2016
DLX32Apr 28, 2016
DMD36Apr 28, 2016
DNA26Apr 28, 2016
DNAAF150Apr 28, 2016
DNAAF1112Apr 28, 2016
DNAAF227Apr 28, 2016
DNAAF327Apr 28, 2016
DNAAF44Apr 28, 2016
DNAAF4-CCPG14Apr 28, 2016
DNAAF530Apr 28, 2016
DNAH11204Apr 28, 2016
DNAH5187Apr 28, 2016
DNAH86Apr 28, 2016
DNAH8-AS12Apr 28, 2016
DNAI122Apr 28, 2016
DNAI237Apr 28, 2016
DNAJB64Apr 28, 2016
DNAJC54Apr 28, 2016
DNAL18Apr 28, 2016
DNASE1L11Apr 28, 2016
DNM1L8Apr 28, 2016
DNM216Apr 28, 2016
DNMT114Apr 28, 2016
DOCK64Apr 28, 2016
DOCK816Apr 28, 2016
DOK11Apr 28, 2016
DOK750Apr 28, 2016
DPAGT13Apr 28, 2016
DPM12Apr 28, 2016
DPYD10Apr 28, 2016
DPYD-AS11Apr 28, 2016
DRC14Apr 28, 2016
DRD26Apr 28, 2016
DSC27Apr 28, 2016
DSG214Apr 28, 2016
DSG2-AS17Apr 28, 2016
DSP24Apr 28, 2016
DSPP9Apr 28, 2016
DSTYK2Apr 28, 2016
DTNA3Apr 28, 2016
DTNBP17Apr 28, 2016
DUOX214Apr 28, 2016
DUOXA25Apr 28, 2016
DUSP2911Apr 28, 2016
DYNC1H114Apr 28, 2016
DYSF75Apr 28, 2016
EBP2Apr 28, 2016
ECE110Apr 28, 2016
ECEL19Apr 28, 2016
EDA3Apr 28, 2016
EDAR10Apr 28, 2016
EDARADD5Apr 28, 2016
EDN31Apr 28, 2016
EDNRB7Apr 28, 2016
EDNRB-AS15Apr 28, 2016
EFCAB13-DT1Apr 28, 2016
EFEMP11Apr 28, 2016
EFEMP22Apr 28, 2016
EFHC17Apr 28, 2016
EFTUD210Apr 28, 2016
EGFR7Apr 28, 2016
EGFR-AS11Apr 28, 2016
EGR21Apr 28, 2016
EHMT16Apr 28, 2016
EIF2B15Apr 28, 2016
EIF2B22Apr 28, 2016
EIF2B38Apr 28, 2016
EIF2B49Apr 28, 2016
EIF2B53Apr 28, 2016
ELANE11Apr 28, 2016
ELN9Apr 28, 2016
ELOVL41Apr 28, 2016
ELP116Apr 28, 2016
EMP21Apr 28, 2016
ENAM2Apr 28, 2016
ENG17Apr 28, 2016
EP30018Apr 28, 2016
EPB4212Apr 28, 2016
EPCAM32Jan 29, 2018
EPHA213Apr 28, 2016
EPM2A4Apr 28, 2016
ERCC212Apr 28, 2016
ERCC412Apr 28, 2016
ERCC58Apr 28, 2016
ERCC617Apr 28, 2016
ERCC6-PGBD35Apr 28, 2016
ERCC85Apr 28, 2016
ERCC8-AS11Apr 28, 2016
ESCO24Apr 28, 2016
ESR12Apr 28, 2016
ESRRB5Apr 28, 2016
ETHE11Apr 28, 2016
EVC39Apr 28, 2016
EVC224Apr 28, 2016
EXOSC32Apr 28, 2016
EXT19Apr 28, 2016
EXT29Apr 28, 2016
EYA15Apr 28, 2016
EYA43Apr 28, 2016
EZH26Apr 28, 2016
F103Apr 28, 2016
F116Apr 28, 2016
F11-AS13Apr 28, 2016
F123Apr 28, 2016
F13A17Apr 28, 2016
F13B4Apr 28, 2016
F27Apr 28, 2016
F531Apr 28, 2016
F75Apr 28, 2016
F87Apr 28, 2016
F93Apr 28, 2016
FAH12Apr 28, 2016
FAM126A1Apr 28, 2016
FAM20A5Apr 28, 2016
FAM83H5Apr 28, 2016
FAN12Apr 28, 2016
FANCA64Apr 28, 2016
FANCB2Apr 28, 2016
FANCC9Apr 28, 2016
FANCD231Apr 28, 2016
FANCD2OS6Apr 28, 2016
FANCE7Apr 28, 2016
FANCF7Apr 28, 2016
FANCG8Apr 28, 2016
FANCI21Apr 28, 2016
FANCL4Apr 28, 2016
FANCM17Apr 28, 2016
FARS24Apr 28, 2016
FAS1Apr 28, 2016
FBLN51Apr 28, 2016
FBN157Apr 28, 2016
FBN279Apr 28, 2016
FBP111Apr 28, 2016
FBXL33Apr 28, 2016
FBXL43Apr 28, 2016
FBXO30-DT3Apr 28, 2016
FECH3Apr 28, 2016
FERMT16Apr 28, 2016
FGA4Apr 28, 2016
FGB8Apr 28, 2016
FGD16Apr 28, 2016
FGF34Apr 28, 2016
FGFR11Apr 28, 2016
FGFR211Apr 28, 2016
FGFR335Apr 28, 2016
FH5Apr 28, 2016
FHL13Apr 28, 2016
FIG412Apr 28, 2016
FKBP102Apr 28, 2016
FKRP13Apr 28, 2016
FKTN14Apr 28, 2016
FLCN9Apr 28, 2016
FLNA13Apr 28, 2016
FLNB25Apr 28, 2016
FLNB-AS12Apr 28, 2016
FLNC57Apr 28, 2016
FLNC-AS115Apr 28, 2016
FLT459Apr 28, 2016
FMO319Jul 10, 2017
FOLR11Apr 28, 2016
FOXC12Apr 28, 2016
FOXC26Apr 28, 2016
FOXC2-AS13Apr 28, 2016
FOXE33Apr 28, 2016
FOXG11Apr 28, 2016
FOXH111Apr 28, 2016
FOXI11Apr 28, 2016
FOXL24Apr 28, 2016
FOXP31Apr 28, 2016
FRAS132Apr 28, 2016
FREM114Apr 28, 2016
FREM26Apr 28, 2016
FRMD75Apr 28, 2016
FSHB1Apr 28, 2016
FSHR5Apr 28, 2016
FTCD7Apr 28, 2016
FTH13Apr 28, 2016
FTL1Apr 28, 2016
FUS8Apr 28, 2016
FYCO121Apr 28, 2016
G6PC14Apr 28, 2016
G6PC34Apr 28, 2016
G6PD1Apr 28, 2016
GAA54Apr 28, 2016
GABRA16Apr 28, 2016
GABRB35Apr 28, 2016
GABRD4Apr 28, 2016
GABRG24Apr 28, 2016
GALC24Apr 28, 2016
GALE3Apr 28, 2016
GALK12Apr 28, 2016
GALNS20Apr 28, 2016
GALT7Apr 28, 2016
GAMT3Apr 28, 2016
GAN8Apr 28, 2016
GARS118Apr 28, 2016
GATA13Apr 28, 2016
GATA265Aug 15, 2019
GATA33Apr 28, 2016
GATAD13Apr 28, 2016
GATM2Apr 28, 2016
GBA10Jun 7, 2019
GBE115Apr 28, 2016
GCDH5Apr 28, 2016
GCH12Apr 28, 2016
GCK10Apr 28, 2016
GCNT23Apr 28, 2016
GDAP11Apr 28, 2016
GDF17Apr 28, 2016
GDF55Apr 28, 2016
GDF5-AS13Apr 28, 2016
GDF65Apr 28, 2016
GDNF2Apr 28, 2016
GFI111Apr 28, 2016
GFPT18Apr 28, 2016
GH-LCR25Apr 28, 2016
GHR10Apr 28, 2016
GHSR2Apr 28, 2016
GIPC34Apr 28, 2016
GJA13Apr 28, 2016
GJA33Apr 28, 2016
GJA81Apr 28, 2016
GJB11Apr 28, 2016
GJB210Feb 25, 2020
GJB36Apr 28, 2016
GJC23Apr 28, 2016
GLA8Apr 28, 2016
GLB112Apr 28, 2016
GLDC9Apr 28, 2016
GLE17Apr 28, 2016
GLI242Apr 28, 2016
GLI346Apr 28, 2016
GLIS27Apr 28, 2016
GLIS35Apr 28, 2016
GLUD17Apr 28, 2016
GM2A5Apr 28, 2016
GMPPB6Apr 28, 2016
GNA115Apr 28, 2016
GNAT23Apr 28, 2016
GNB42Apr 28, 2016
GNE9Apr 28, 2016
GNPAT5Apr 28, 2016
GNPTAB11Apr 28, 2016
GNPTG2Apr 28, 2016
GNS3Apr 28, 2016
GORAB1Apr 28, 2016
GOSR25Apr 28, 2016
GP1BA11Apr 28, 2016
GP1BB1Apr 28, 2016
GP619Apr 28, 2016
GP93Apr 28, 2016
GPC34Apr 28, 2016
GPD1L1Apr 28, 2016
GPHN2Apr 28, 2016
GPI1Apr 28, 2016
GPR1434Apr 28, 2016
GPSM26Apr 28, 2016
GRHL25Apr 28, 2016
GRHPR4Apr 28, 2016
GRIN2A7Apr 28, 2016
GRIP15Apr 28, 2016
GRN7Apr 28, 2016
GRXCR13Apr 28, 2016
GSS2Apr 28, 2016
GUCA1A1Apr 28, 2016
GUCA1B1Apr 28, 2016
GUCY2D11Apr 28, 2016
GUSB5Apr 28, 2016
GYS11Apr 28, 2016
GYS223Apr 28, 2016
HADH1Apr 28, 2016
HAMP1Apr 28, 2016
HAX15Apr 28, 2016
HBB11Apr 28, 2016
HCCS1Apr 28, 2016
HCN46Apr 28, 2016
HDAC82Apr 28, 2016
HEPACAM8Apr 28, 2016
HES73Apr 28, 2016
HEXA11Apr 28, 2016
HEXB14Oct 12, 2018
HFE1Apr 28, 2016
HGD2Apr 28, 2016
HGF5Apr 28, 2016
HGSNAT3Apr 28, 2016
HIGD2B2Apr 28, 2016
HINT11Apr 28, 2016
HJV1Apr 28, 2016
HK11Apr 28, 2016
HLCS9Apr 28, 2016
HMBS5Apr 28, 2016
HMGCL2Apr 28, 2016
HNF1A16Apr 28, 2016
HNF1B4Apr 28, 2016
HNF4A10Apr 28, 2016
HNRNPA11Apr 28, 2016
HNRNPA2B14Apr 28, 2016
HNRNPUL2-BSCL26Apr 28, 2016
HPS123Apr 28, 2016
HPS38Apr 28, 2016
HPS416Apr 28, 2016
HPS517Apr 28, 2016
HPS68Apr 28, 2016
HRAS9Apr 28, 2016
HSD17B35Apr 28, 2016
HSD17B3-AS11Apr 28, 2016
HSD17B411Apr 28, 2016
HSD3B78Apr 28, 2016
HSF41Apr 28, 2016
HSPB15Apr 28, 2016
HSPB82Apr 28, 2016
IDS1Apr 28, 2016
IDUA24Apr 28, 2016
IFIH14Apr 28, 2016
IFITM51Apr 28, 2016
IFT12210Apr 28, 2016
IGHMBP230Apr 28, 2016
IGSF14Apr 28, 2016
IL7R4Apr 28, 2016
ILDR16Apr 28, 2016
INF227Apr 28, 2016
INPP5E33Apr 28, 2016
INS6Apr 28, 2016
INS-IGF25Apr 28, 2016
INVS24Apr 28, 2016
IQCB19Apr 28, 2016
IRF68Apr 28, 2016
ITGA2B6Apr 28, 2016
ITGA727Apr 28, 2016
ITGB39Apr 28, 2016
ITGB42Apr 28, 2016
IVD5Apr 28, 2016
IYD1Apr 28, 2016
JAG134Apr 28, 2016
JUP13Apr 28, 2016
KAT6B22Apr 28, 2016
KBTBD1318Apr 28, 2016
KCNA51Apr 28, 2016
KCND32Apr 28, 2016
KCNE11Apr 28, 2016
KCNE21Apr 28, 2016
KCNE31Apr 28, 2016
KCNH11Apr 28, 2016
KCNH25Apr 28, 2016
KCNJ103Apr 28, 2016
KCNJ1113Apr 28, 2016
KCNJ22Apr 28, 2016
KCNJ56Apr 28, 2016
KCNQ17Apr 28, 2016
KCNQ1-AS11Apr 28, 2016
KCNQ1OT11Apr 28, 2016
KCNQ29Apr 28, 2016
KCNQ414Apr 28, 2016
KCNT119Apr 28, 2016
KCNV212Apr 28, 2016
KCTD74Apr 28, 2016
KDM6A8Apr 28, 2016
KIF115Apr 28, 2016
KIF1B9Apr 28, 2016
KIF742Apr 28, 2016
KIFBP2Apr 28, 2016
KIRREL23Apr 28, 2016
KIT11Apr 28, 2016
KLF11Apr 28, 2016
KLF113Apr 28, 2016
KLHL33Apr 28, 2016
KLHL4010Apr 28, 2016
KLHL416Apr 28, 2016
KLK43Apr 28, 2016
KLLN3Dec 20, 2016
KMT2A3Apr 28, 2016
KMT2D45Apr 28, 2016
KRAS7Dec 23, 2019
KRIT1117Oct 12, 2018
KRT148Apr 28, 2016
KRT513Apr 28, 2016
L1CAM14Apr 28, 2016
LAMA285Apr 28, 2016
LAMA39Apr 28, 2016
LAMA414Apr 28, 2016
LAMB221Apr 28, 2016
LAMB317Apr 28, 2016
LAMC28Apr 28, 2016
LAMP23Apr 28, 2016
LARGE123Apr 28, 2016
LARS26Apr 28, 2016
LARS2-AS13Apr 28, 2016
LBR4Apr 28, 2016
LDB323Apr 28, 2016
LDLR15Apr 28, 2016
LEFTY29Apr 28, 2016
LFNG9Apr 28, 2016
LHCGR3Apr 28, 2016
LHFPL51Apr 28, 2016
LHX43Apr 28, 2016
LHX4-AS12Apr 28, 2016
LIG41Apr 28, 2016
LIMS27Apr 28, 2016
LINC013893Apr 28, 2016
LIPA5Apr 28, 2016
LMAN17Apr 28, 2016
LMBRD13Apr 28, 2016
LMNA18Apr 28, 2016
LMX1B13Apr 28, 2016
LOC1001305872Apr 28, 2016
LOC1005055498Apr 28, 2016
LOC1005060712Apr 28, 2016
LOC1005073469Apr 28, 2016
LOC1005074435Apr 28, 2016
LOC10144820224Apr 28, 2016
LOC1019270556Apr 28, 2016
LOC1019278709Apr 28, 2016
LOC1019281743Apr 28, 2016
LOC1019282223Apr 28, 2016
LOC1027235665Apr 28, 2016
LOC1027240588Apr 28, 2016
LOC10537104917Apr 28, 2016
LOC10537156625Apr 28, 2016
LOC1053722731Apr 28, 2016
LOC1053783111Apr 28, 2016
LOC1060501021Apr 28, 2016
LOC1060990623Apr 28, 2016
LOC1065602111Apr 28, 2016
LOC1066279819Jun 7, 2019
LOC10678080028Apr 28, 2016
LOC10678080328Apr 28, 2016
LOC10713351011Apr 28, 2016
LOC10730333824Apr 28, 2016
LOC10730334020Jun 11, 2018
LOC1074575854Apr 28, 2016
LOC1076524451Apr 28, 2016
LOC1079822347Apr 28, 2016
LOC1079880321Apr 28, 2016
LOC1089031482Apr 28, 2016
LOC1091159641Apr 28, 2016
LOC1094614761Apr 28, 2016
LOC1096106311Apr 28, 2016
LOC1096115892Apr 28, 2016
LOC1100063198Apr 28, 2016
LOC1100112165Apr 28, 2016
LOC1101212692Apr 28, 2016
LOC1101212886Apr 28, 2016
LOC1101214272Apr 28, 2016
LOC1101214711Apr 28, 2016
LOC1101214865Apr 28, 2016
LOC1106314171Apr 28, 2016
LOC1116744631Apr 28, 2016
LOC1116744723Apr 28, 2016
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LOC1124862233Apr 28, 2016
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LOC1137484162Oct 12, 2018
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LOC1148278271Apr 28, 2016
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LOC1148278515Apr 28, 2016
LOC1170387761Apr 28, 2016
LOC1170387951Apr 28, 2016
LOC1181427571Apr 28, 2016
LOXHD123Apr 28, 2016
LOXL33Apr 28, 2016
LPIN119Apr 28, 2016
LPIN23Apr 28, 2016
LRIG21Apr 28, 2016
LRMDA7Apr 28, 2016
LRP243Apr 28, 2016
LRP516Apr 28, 2016
LRRC37A25Apr 28, 2016
LRRC569Apr 28, 2016
LRTOMT1Apr 28, 2016
LTBP26Apr 28, 2016
LURAP1L-AS15Apr 28, 2016
LYST41Apr 28, 2016
MAF6Apr 28, 2016
MAN2B14Apr 28, 2016
MAP2K113Apr 28, 2016
MAP2K226Apr 28, 2016
MAPT18Apr 28, 2016
MARVELD22Apr 28, 2016
MASTL18Apr 28, 2016
MAT1A7Apr 28, 2016
MATN36Apr 28, 2016
MATR32Apr 28, 2016
MBD52Apr 28, 2016
MC1R13Apr 28, 2016
MC4R1Apr 28, 2016
MCCC19Apr 28, 2016
MCCC210Apr 28, 2016
MCOLN12Apr 28, 2016
MCPH18Apr 28, 2016
MECP24Apr 28, 2016
MED1212Apr 28, 2016
MED12L2Apr 28, 2016
MED231Apr 28, 2016
MEF2C1Apr 28, 2016
MEF2C-AS21Apr 28, 2016
MEFV15Apr 28, 2016
MEGF1023Apr 28, 2016
MEN126Jan 29, 2018
MEOX12Apr 28, 2016
MESP214Apr 28, 2016
MET18Apr 28, 2016
MFF-DT36Apr 28, 2016
MFN27Apr 28, 2016
MFRP6Apr 28, 2016
MFSD82Apr 28, 2016
MGAT21Apr 28, 2016
MGME11Apr 28, 2016
MHRT12Apr 28, 2016
MILR13Apr 28, 2016
MIP1Apr 28, 2016
MIR12251Apr 28, 2016
MIR60841Apr 28, 2016
MIR6511B11Apr 28, 2016
MIR67661Apr 28, 2016
MIR68861Apr 28, 2016
MITF5Jul 10, 2017
MKKS11Apr 28, 2016
MKS118Apr 28, 2016
MLC119Apr 28, 2016
MLH153Jan 29, 2018
MLH34Apr 28, 2016
MMAA3Apr 28, 2016
MMAB8Apr 28, 2016
MMACHC3Apr 28, 2016
MMADHC2Apr 28, 2016
MMP204Apr 28, 2016
MMUT7Apr 28, 2016
MPDU13Apr 28, 2016
MPI5Apr 28, 2016
MPL11Apr 28, 2016
MPZ2Apr 28, 2016
MRE116Apr 28, 2016
MSH272Jan 29, 2018
MSH681Jan 29, 2018
MSX21Apr 28, 2016
MTM13Apr 28, 2016
MTMR101Apr 28, 2016
MTMR22Apr 28, 2016
MTPAP4Apr 28, 2016
MTR1Apr 28, 2016
MTRFR2Apr 28, 2016
MTRR1Apr 28, 2016
MUSK23Apr 28, 2016
MUTYH42Jan 29, 2018
MVK11Apr 28, 2016
MYBPC114Apr 28, 2016
MYBPC322Apr 28, 2016
MYEF21Apr 28, 2016
MYF62Apr 28, 2016
MYH1159Apr 28, 2016
MYH1431Apr 28, 2016
MYH220Apr 28, 2016
MYH361Apr 28, 2016
MYH632Apr 28, 2016
MYH760Apr 28, 2016
MYH819Apr 28, 2016
MYH981Apr 28, 2016
MYHAS39Apr 28, 2016
MYL25Apr 28, 2016
MYL33Apr 28, 2016
MYLK54Apr 28, 2016
MYLK-AS12Apr 28, 2016
MYO15A34Apr 28, 2016
MYO1A6Apr 28, 2016
MYO3A27Apr 28, 2016
MYO5A20Apr 28, 2016
MYO611Apr 28, 2016
MYO7A31Apr 28, 2016
MYOC1Apr 28, 2016
MYOT12Apr 28, 2016
NAGLU3Apr 28, 2016
NAGPA6Apr 28, 2016
NAGS5Apr 28, 2016
NALCN16Apr 28, 2016
NALCN-AS11Apr 28, 2016
NBEAL218Apr 28, 2016
NBN52Jan 29, 2018
NCF24Apr 28, 2016
NCF47Apr 28, 2016
NCF4-AS11Apr 28, 2016
NDE130Apr 28, 2016
NDP1Apr 28, 2016
NDRG12Apr 28, 2016
NDUFS15Apr 28, 2016
NDUFS72Apr 28, 2016
NEB228Nov 9, 2018
NEK82Apr 28, 2016
NEUROD12Apr 28, 2016
NEXN1Apr 28, 2016
NF1125Jan 29, 2018
NF26Apr 28, 2016
NHLRC12Apr 28, 2016
NHP22Apr 28, 2016
NHS3Apr 28, 2016
NIPAL44Apr 28, 2016
NIPBL21Apr 28, 2016
NKX2-11Apr 28, 2016
NKX2-56Apr 28, 2016
NLRP129Apr 28, 2016
NLRP310Apr 28, 2016
NME839Apr 28, 2016
NOC3L3Apr 28, 2016
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NOP101Apr 28, 2016
NOTCH28Apr 28, 2016
NOTCH339Apr 28, 2016
NPC129Apr 28, 2016
NPC21Apr 28, 2016
NPHP114Apr 28, 2016
NPHP338Apr 28, 2016
NPHP3-ACAD1138Apr 28, 2016
NPHP3-AS14Apr 28, 2016
NPHP437Apr 28, 2016
NPHS130Apr 28, 2016
NPHS29Apr 28, 2016
NPPA2Apr 28, 2016
NPPA-AS12Apr 28, 2016
NR0B12Apr 28, 2016
NR1H44Apr 28, 2016
NR2E34Apr 28, 2016
NR3C26Apr 28, 2016
NR5A12Apr 28, 2016
NRTN4Apr 28, 2016
NRXN15Apr 28, 2016
NSD146Apr 28, 2016
NSDHL1Apr 28, 2016
NSUN65Apr 28, 2016
NT5DC14Apr 28, 2016
OCA227Apr 28, 2016
OCRL1Apr 28, 2016
ODAD140Apr 28, 2016
ODAD21Apr 28, 2016
ODAD31Apr 28, 2016
ODAPH1Apr 28, 2016
OFD117Apr 28, 2016
OPA111Apr 28, 2016
OPA1-AS12Apr 28, 2016
OPA31Apr 28, 2016
OPHN12Apr 28, 2016
OPTN9Apr 28, 2016
ORC11Apr 28, 2016
ORC41Apr 28, 2016
ORC62Apr 28, 2016
OTC9Apr 28, 2016
OTOA7Apr 28, 2016
OTOF34Apr 28, 2016
OXCT11Apr 28, 2016
P2RY122Apr 28, 2016
PAFAH1B18Apr 28, 2016
PAH16Apr 28, 2016
PAK61Apr 28, 2016
PALB257Jan 29, 2018
PAX24Apr 28, 2016
PAX36Apr 28, 2016
PAX45Apr 28, 2016
PAX63Apr 28, 2016
PAX82Apr 28, 2016
PAX8-AS12Apr 28, 2016
PAX91Apr 28, 2016
PCCA11Apr 28, 2016
PCCB5Apr 28, 2016
PCDH1521Apr 28, 2016
PCDH195Apr 28, 2016
PCSK918Apr 28, 2016
PDCD1023Oct 12, 2018
PDE6C12Apr 28, 2016
PDGFRA10Apr 28, 2016
PDGFRB5Apr 28, 2016
PDSS27Apr 28, 2016
PDX12Apr 28, 2016
PDZD79Apr 28, 2016
PEX113Apr 28, 2016
PEX108Apr 28, 2016
PEX131Apr 28, 2016
PEX149Apr 28, 2016
PEX165Apr 28, 2016
PEX191Apr 28, 2016
PEX21Apr 28, 2016
PEX262Apr 28, 2016
PEX36Apr 28, 2016
PEX54Apr 28, 2016
PEX614Apr 28, 2016
PEX72Apr 28, 2016
PFKM21Apr 28, 2016
PFN11Apr 28, 2016
PGBD32Apr 28, 2016
PHEX1Apr 28, 2016
PHKA15Apr 28, 2016
PHKA1-AS11Apr 28, 2016
PHKA213Apr 28, 2016
PHKA2-AS11Apr 28, 2016
PHKB11Apr 28, 2016
PHKG27Apr 28, 2016
PHOX2A3Apr 28, 2016
PHOX2B11Apr 28, 2016
PHOX2B-AS11Apr 28, 2016
PHYH4Apr 28, 2016
PIEZO237Apr 28, 2016
PIGO9Apr 28, 2016
PIK3CA6Apr 28, 2016
PIK3R58Apr 28, 2016
PINK13Apr 28, 2016
PINK1-AS1Apr 28, 2016
PITPNM312Apr 28, 2016
PITX21Apr 28, 2016
PITX31Apr 28, 2016
PJVK4Apr 28, 2016
PKD1165Sep 28, 2018
PKD215Apr 28, 2016
PKHD1105Apr 28, 2016
PKLR2Apr 28, 2016
PKP12Apr 28, 2016
PKP29Apr 28, 2016
PLCB116Apr 28, 2016
PLCE124Apr 28, 2016
PLCE1-AS13Apr 28, 2016
PLEC59Apr 28, 2016
PLEKHG21Apr 28, 2016
PLEKHG31Apr 28, 2016
PLEKHG52Apr 28, 2016
PLOD17Apr 28, 2016
PLOD22Apr 28, 2016
PLP12Apr 28, 2016
PLUT2Apr 28, 2016
PMM26Apr 28, 2016
PMS272Jun 11, 2019
PNKD6Apr 28, 2016
PNKP3Apr 28, 2016
PNPLA15Apr 28, 2016
PNPLA222Apr 28, 2016
PNPO4Apr 28, 2016
POLD1119Jan 29, 2018
POLE156Jan 29, 2018
POLG26Apr 28, 2016
POLG23Apr 28, 2016
POLH4Apr 28, 2016
POLR2F4Apr 28, 2016
POLR3H1Apr 28, 2016
POMGNT118Apr 28, 2016
POMGNT28Apr 28, 2016
POMK2Apr 28, 2016
POMT144Apr 28, 2016
POMT223Apr 28, 2016
POR7Apr 28, 2016
POU4F31Apr 28, 2016
PPM1D2Apr 28, 2016
PPT13Apr 28, 2016
PRF111Apr 28, 2016
PRKAG213Apr 28, 2016
PRKAR1A5Apr 28, 2016
PRKAR1B3Apr 28, 2016
PRKCSH10Apr 28, 2016
PRKN4Apr 28, 2016
PROC3Apr 28, 2016
PROM112Apr 28, 2016
PROS12Apr 28, 2016
PRPH28Apr 28, 2016
PRPS12Apr 28, 2016
PRRT21Apr 28, 2016
PRSS17Apr 28, 2016
PRX1Apr 28, 2016
PSAP16Apr 28, 2016
PSEN13Apr 28, 2016
PSEN28Apr 28, 2016
PSTPIP18Apr 28, 2016
PTCH144Apr 28, 2016
PTCHD1-AS1Apr 28, 2016
PTEN18Jan 29, 2018
PTH2Apr 28, 2016
PTPN1120Apr 28, 2016
PXDN15Apr 28, 2016
PYGL27Apr 28, 2016
PYGM20Apr 28, 2016
PYY5Apr 28, 2016
QDPR1Apr 28, 2016
RAB27A4Apr 28, 2016
RAB3GAP13Apr 28, 2016
RAB9B2Apr 28, 2016
RAD213Apr 28, 2016
RAD501Apr 28, 2016
RAD51C24Jan 29, 2018
RAD51D19Jan 29, 2018
RAD51L3-RFFL19Jan 29, 2018
RAF112Apr 28, 2016
RAG15Apr 28, 2016
RAG21Apr 28, 2016
RAI118Apr 28, 2016
RANBP210Apr 28, 2016
RAPSN16Apr 28, 2016
RARS23Apr 28, 2016
RAX2Apr 28, 2016
RAX22Apr 28, 2016
RB111Apr 28, 2016
RBM2011Apr 28, 2016
RDH53Apr 28, 2016
RECQL421Apr 28, 2016
REEP12Apr 28, 2016
RELN30Apr 28, 2016
REN2Apr 28, 2016
RET89Jan 29, 2018
RHO4Apr 28, 2016
RIF139Nov 9, 2018
RIMS110Apr 28, 2016
RIN22Apr 28, 2016
RIPK46Apr 28, 2016
RIT14Apr 28, 2016
RMND5B1Apr 28, 2016
RNASE41Apr 28, 2016
RNASEH2A4Apr 28, 2016
RNASEH2B1Apr 28, 2016
RNASEH2C1Apr 28, 2016
RNF172Apr 28, 2016
ROGDI4Apr 28, 2016
ROR214Apr 28, 2016
RP12Apr 28, 2016
RPE654Apr 28, 2016
RPGR32Apr 28, 2016
RPGRIP112Apr 28, 2016
RPGRIP1L31Apr 28, 2016
RPL36A-HNRNPH28Apr 28, 2016
RS14Apr 28, 2016
RSPH11Apr 28, 2016
RSPH4A16Apr 28, 2016
RSPH94Apr 28, 2016
RUNX172Jul 12, 2018
RUNX23Apr 28, 2016
RXYLT18Apr 28, 2016
RXYLT1-AS13Apr 28, 2016
RYR11049Feb 22, 2021
RYR267Apr 28, 2016
SACS27Apr 28, 2016
SALL122Apr 28, 2016
SALL49Apr 28, 2016
SBDS5Apr 28, 2016
SBF13Apr 28, 2016
SBF22Apr 28, 2016
SBF2-AS11Apr 28, 2016
SCARB27Apr 28, 2016
SCN10A12Apr 28, 2016
SCN11A3Apr 28, 2016
SCN1A18Apr 28, 2016
SCN1A-AS128Apr 28, 2016
SCN1B5Apr 28, 2016
SCN2A8Apr 28, 2016
SCN2B1Apr 28, 2016
SCN3B1Apr 28, 2016
SCN4A44Apr 28, 2016
SCN4B1Apr 28, 2016
SCN5A23Apr 28, 2016
SCN8A8Apr 28, 2016
SCN9A31Apr 28, 2016
SCNN1A4Apr 28, 2016
SCNN1B8Apr 28, 2016
SCNN1G7Apr 28, 2016
SCO25Apr 28, 2016
SDCCAG811Apr 28, 2016
SDHA26Apr 28, 2016
SDHAF23Apr 28, 2016
SDHB9Apr 28, 2016
SDHC2Apr 28, 2016
SDHD3Apr 28, 2016
SEC23B11Apr 28, 2016
SEC634Apr 28, 2016
SELENON31Apr 28, 2016
SEMA3E4Apr 28, 2016
SEMA4A4Apr 28, 2016
SEPT5-GP1BB1Apr 28, 2016
SERPINA18Apr 28, 2016
SERPINB64Apr 28, 2016
SERPINC13Apr 28, 2016
SERPINF25Apr 28, 2016
SERPING12Apr 28, 2016
SETX31Apr 28, 2016
SF3B42Apr 28, 2016
SFTA31Apr 28, 2016
SFTPB4Apr 28, 2016
SFTPC1Apr 28, 2016
SGCA9Apr 28, 2016
SGCB3Apr 28, 2016
SGCD10Apr 28, 2016
SGCE4Apr 28, 2016
SGCG13Apr 28, 2016
SGSH14Apr 28, 2016
SH3BP26Apr 28, 2016
SH3PXD2B4Apr 28, 2016
SH3TC25Apr 28, 2016
SHH4Apr 28, 2016
SHOC213Apr 28, 2016
SHOX7Apr 28, 2016
SIL14Apr 28, 2016
SIX36Apr 28, 2016
SIX52Apr 28, 2016
SIX61Apr 28, 2016
SKI20Apr 28, 2016
SLA2Apr 28, 2016
SLC12A14Apr 28, 2016
SLC12A317Apr 28, 2016
SLC12A66Apr 28, 2016
SLC16A13Apr 28, 2016
SLC16A21Apr 28, 2016
SLC17A51Apr 28, 2016
SLC17A86Apr 28, 2016
SLC19A117Apr 28, 2016
SLC19A39Apr 28, 2016
SLC24A14Apr 28, 2016
SLC24A52Apr 28, 2016
SLC25A133Apr 28, 2016
SLC25A225Apr 28, 2016
SLC25A31Apr 28, 2016
SLC25A41Apr 28, 2016
SLC26A15Apr 28, 2016
SLC26A26Apr 28, 2016
SLC26A42Apr 28, 2016
SLC26A55Apr 28, 2016
SLC2A18Apr 28, 2016
SLC2A1015Apr 28, 2016
SLC2A212Apr 28, 2016
SLC33A11Apr 28, 2016
SLC34A13Apr 28, 2016
SLC35C13Apr 28, 2016
SLC37A48Apr 28, 2016
SLC40A13Apr 28, 2016
SLC45A23Apr 28, 2016
SLC4A118Apr 28, 2016
SLC4A1110Apr 28, 2016
SLC52A22Apr 28, 2016
SLC52A316Apr 28, 2016
SLC5A56Apr 28, 2016
SLC5A72Apr 28, 2016
SLC9A64Apr 28, 2016
SLCO1B13Apr 28, 2016
SLCO1B34Apr 28, 2016
SLCO1B3-SLCO1B74Apr 28, 2016
SLMAP2Apr 28, 2016
SLX441Apr 28, 2016
SMAD38Apr 28, 2016
SMAD421Jan 29, 2018
SMARCA47Apr 28, 2016
SMARCAL115Apr 28, 2016
SMARCB12Apr 28, 2016
SMC1A6Apr 28, 2016
SMC317Apr 28, 2016
SMCHD129Apr 28, 2016
SMOC15Apr 28, 2016
SMPD19Apr 28, 2016
SNAPC52Apr 28, 2016
SNHG142Apr 28, 2016
SNHG314Apr 28, 2016
SNTA11Apr 28, 2016
SOD12Apr 28, 2016
SOS126Apr 28, 2016
SOX104Apr 28, 2016
SOX183Apr 28, 2016
SOX21Apr 28, 2016
SOX2-OT1Apr 28, 2016
SPAG17Apr 28, 2016
SPATA222Apr 28, 2016
SPG717Apr 28, 2016
SPINK14Apr 28, 2016
SPINK526Apr 28, 2016
SPRED16Apr 28, 2016
SPTA150Apr 28, 2016
SPTAN110Apr 28, 2016
SPTB42Apr 28, 2016
SQSTM18Apr 28, 2016
SRCAP8Apr 28, 2016
SRD5A22Apr 28, 2016
SRY1Apr 28, 2016
SSUH22Apr 28, 2016
ST3GAL35Apr 28, 2016
ST3GAL43Apr 28, 2016
ST3GAL51Apr 28, 2016
STAC311Apr 28, 2016
STAT32Apr 28, 2016
STIL5Apr 28, 2016
STIM114Apr 28, 2016
STK1138Jan 29, 2018
STON1-GTF2A1L3Apr 28, 2016
STRA62Apr 28, 2016
STX114Apr 28, 2016
STXBP16Apr 28, 2016
STXBP234Apr 28, 2016
SUCLA26Apr 28, 2016
SUCLG26Apr 28, 2016
SUFU3Apr 28, 2016
SUMF111Apr 28, 2016
SUOX1Apr 28, 2016
SYCE21Apr 28, 2016
SYN31Apr 28, 2016
SYNE1109Apr 28, 2016
SZT219Apr 28, 2016
SZT2-AS11Apr 28, 2016
TAF1C2Apr 28, 2016
TARID1Apr 28, 2016
TASP11Jun 10, 2019
TAT1Apr 28, 2016
TAZ1Apr 28, 2016
TBC1D244Apr 28, 2016
TBCEL-TECTA18Apr 28, 2016
TBX33Apr 28, 2016
TBX43Apr 28, 2016
TBX58Apr 28, 2016
TBX64Apr 28, 2016
TBXA2R6Apr 28, 2016
TCAP8Apr 28, 2016
TCEA23Apr 28, 2016
TCF128Apr 28, 2016
TCF41Apr 28, 2016
TCOF118Apr 28, 2016
TCTN113Apr 28, 2016
TCTN224Apr 28, 2016
TCTN311Apr 28, 2016
TDRD79Apr 28, 2016
TECTA18Apr 28, 2016
TENM310Apr 28, 2016
TERT21Apr 28, 2016
TFAP2A1Apr 28, 2016
TFAP2B3Apr 28, 2016
TFR23Apr 28, 2016
TG20Apr 28, 2016
TGFB15Apr 28, 2016
TGFB25Apr 28, 2016
TGFBI5Apr 28, 2016
TGFBR18Apr 28, 2016
TGFBR212Apr 28, 2016
TGIF17Apr 28, 2016
TGM14Apr 28, 2016
TH13Apr 28, 2016
THPO2Apr 28, 2016
THRA2Apr 28, 2016
THRB3Apr 28, 2016
TIA13May 18, 2017
TIGD12Apr 28, 2016
TIMP31Apr 28, 2016
TJP230Apr 28, 2016
TK24Apr 28, 2016
TMC19Apr 28, 2016
TMEM126A2Apr 28, 2016
TMEM1272Apr 28, 2016
TMEM1382Apr 28, 2016
TMEM2168Apr 28, 2016
TMEM23111Apr 28, 2016
TMEM23720Apr 28, 2016
TMEM437Apr 28, 2016
TMEM6733Apr 28, 2016
TMIE3Apr 28, 2016
TMPPE2Apr 28, 2016
TMPRSS311Apr 28, 2016
TMPRSS611Apr 28, 2016
TNFRSF11A8Apr 28, 2016
TNFRSF11B5Apr 28, 2016
TNFRSF13B3Apr 28, 2016
TNFRSF1A3Apr 28, 2016
TNK214Apr 28, 2016
TNNI28Apr 28, 2016
TNNI323Apr 28, 2016
TNNT113Apr 28, 2016
TNNT213Apr 28, 2016
TNNT312Apr 28, 2016
TNPO38Apr 28, 2016
TNXB91Apr 28, 2016
TOE12Jan 29, 2018
TOR1A7Apr 28, 2016
TOR1AIP19Apr 28, 2016
TP5330Jan 29, 2018
TP6313Apr 28, 2016
TPM13Apr 28, 2016
TPM211Apr 28, 2016
TPM35Apr 28, 2016
TPO12Apr 28, 2016
TPP19Apr 28, 2016
TRAP12Apr 28, 2016
TRAPPC1118Apr 28, 2016
TRAPPC98Apr 28, 2016
TRB7Apr 28, 2016
TRDN14Apr 28, 2016
TREM23Apr 28, 2016
TREX12Apr 28, 2016
TRH5Apr 28, 2016
TRIM324Apr 28, 2016
TRIOBP21Apr 28, 2016
TRPC612Apr 28, 2016
TRPM42Apr 28, 2016
TRPS15Apr 28, 2016
TRPV424Apr 28, 2016
TSC140Apr 28, 2016
TSC2129Apr 28, 2016
TSEN29Apr 28, 2016
TSEN342Apr 28, 2016
TSEN5424Apr 28, 2016
TSHB1Apr 28, 2016
TSHR7Apr 28, 2016
TSPAN114Apr 28, 2016
TSPAN121Apr 28, 2016
TSPAN313Jan 29, 2018
TTC1412Apr 28, 2016
TTC21B39Apr 28, 2016
TTC21B-AS14Apr 28, 2016
TTC811Apr 28, 2016
TTN291Apr 28, 2016
TTN-AS1156Apr 28, 2016
TTR3Apr 28, 2016
TUBA1A4Apr 28, 2016
TUSC31Apr 28, 2016
TWIST11Apr 28, 2016
TWNK5Apr 28, 2016
TYK210Apr 28, 2016
TYMP7Apr 28, 2016
TYR5Apr 28, 2016
TYRP110Apr 28, 2016
UBE3A2Apr 28, 2016
UBQLN21Apr 28, 2016
UBR17Apr 28, 2016
UCP22Apr 28, 2016
UGT1A2Apr 28, 2016
UGT1A12Apr 28, 2016
UGT1A102Apr 28, 2016
UGT1A32Apr 28, 2016
UGT1A42Apr 28, 2016
UGT1A52Apr 28, 2016
UGT1A62Apr 28, 2016
UGT1A72Apr 28, 2016
UGT1A82Apr 28, 2016
UGT1A92Apr 28, 2016
UMOD2Apr 28, 2016
UMPS3Apr 28, 2016
UNC1192Apr 28, 2016
UNC13D43Apr 28, 2016
UROD2Apr 28, 2016
USH1C17Apr 28, 2016
USH2A33Apr 28, 2016
USH2A-AS11Apr 28, 2016
USH2A-AS23Apr 28, 2016
UTS2B1Apr 28, 2016
VANGL12Apr 28, 2016
VAPB2Apr 28, 2016
VCAN30Apr 28, 2016
VCAN-AS123Apr 28, 2016
VCL11Apr 28, 2016
VCP16Apr 28, 2016
VHL55Jun 11, 2018
VIPAS3911Apr 28, 2016
VPS13B27Apr 28, 2016
VPS33B14Apr 28, 2016
VPS352Apr 28, 2016
VPS451Apr 28, 2016
VRK12Apr 28, 2016
VRK21Apr 28, 2016
VSX12Apr 28, 2016
VSX21Apr 28, 2016
VWF66Apr 28, 2016
WAS7Apr 28, 2016
WDPCP8Apr 28, 2016
WDR1914Apr 28, 2016
WDR355Apr 28, 2016
WDR364Apr 28, 2016
WDR6219Apr 28, 2016
WDR726Apr 28, 2016
WFS139Apr 28, 2016
WHRN8Apr 28, 2016
WNK115Apr 28, 2016
WNK41Apr 28, 2016
WRAP539Apr 28, 2016
WRN16Apr 28, 2016
WT117Apr 28, 2016
WWOX15Apr 28, 2016
XDH6Apr 28, 2016
XIAP1Apr 28, 2016
XPA1Apr 28, 2016
XPC19Mar 6, 2020
YARS24Apr 28, 2016
YWHAE2Apr 28, 2016
ZDHHC248Apr 28, 2016
ZEB22Apr 28, 2016
ZFPM210Apr 28, 2016
ZFPM2-AS19Apr 28, 2016
ZIC28Apr 28, 2016
ZIC37Apr 28, 2016
ZMPSTE243Apr 28, 2016
ZNF2767Apr 28, 2016
ZNF4082Apr 28, 2016
ZNF42324Apr 28, 2016
ZNF6273Apr 28, 2016

Testing in GTR

Disease nameNumber of tests
2,4-Dienoyl-CoA reductase deficiency2 tests
2-aminoadipic 2-oxoadipic aciduria1 test
22q13.3 deletion syndrome4 tests
3 Methylcrotonyl-CoA carboxylase 1 deficiency5 tests
3 beta-Hydroxysteroid dehydrogenase deficiency5 tests
3-Methylglutaconic aciduria type 14 tests
3-Methylglutaconic aciduria type 213 tests
3-Methylglutaconic aciduria type 35 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency6 tests
3-methylcrotonyl CoA carboxylase 2 deficiency5 tests
3-methylglutaconic aciduria type 91 test
3-methylglutaconic aciduria type V2 tests
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia3 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome5 tests
3-methylglutaconic aciduria, type VIII2 tests
3MC syndrome 11 test
3MC syndrome 21 test
46,XX sex reversal 42 tests
46,XX sex reversal, type 16 tests
46,XX testicular disorder of sex development1 test
46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy2 tests
46,XY sex reversal 85 tests
46,XY sex reversal 95 tests
46,XY sex reversal, type 12 tests
46,XY sex reversal, type 22 tests
46,XY sex reversal, type 35 tests
46,XY sex reversal, type 54 tests
46,XY sex reversal, type 66 tests
46,XY sex reversal, type 76 tests
46,xx sex reversal 51 test
ABCD syndrome2 tests
ABri amyloidosis2 tests
ADULT syndrome5 tests
ADan amyloidosis2 tests
ALG1-CDG3 tests
ALG12-congenital disorder of glycosylation5 tests
ALG2-CDG5 tests
ALG3-CDG4 tests
ALG8-CDG5 tests
ALG9 congenital disorder of glycosylation3 tests
ANKRD1-related dilated cardiomyopathy1 test
AU-KLINE SYNDROME1 test
Aarskog syndrome3 tests
Abdominal obesity-metabolic syndrome 32 tests
Abetalipoproteinaemia2 tests
Ablepharon macrostomia syndrome1 test
Abnormal activity of mitochondrial respiratory chain1 test
Abnormal bleeding1 test
Abnormality of connective tissue1 test
Abnormality of dental morphology1 test
Abnormality of metabolism/homeostasis1 test
Abnormality of mitochondrial metabolism1 test
Abnormality of the immune system1 test
Abnormality of the skeletal system2 tests
Abnormality of the skin1 test
Abortive cerebellar ataxia5 tests
Abruzzo-Erickson syndrome2 tests
Acatalasia1 test
Acheiropodia3 tests
Achondrogenesis type II11 tests
Achondrogenesis, type IA2 tests
Achondrogenesis, type IB5 tests
Achondroplasia10 tests
Achromatopsia1 test
Achromatopsia 24 tests
Achromatopsia 32 tests
Achromatopsia 44 tests
Achromatopsia 73 tests
Acquired hemoglobin H disease4 tests
Acquired partial lipodystrophy2 tests
Acrocallosal syndrome10 tests
Acrocapitofemoral dysplasia3 tests
Acrocephalosyndactyly type I11 tests
Acrodysostosis1 test
Acrodysostosis 1 with or without hormone resistance1 test
Acrodysostosis 2, with or without hormone resistance5 tests
Acrofacial dysostosis, Cincinnati type1 test
Acromelic frontonasal dysostosis2 tests
Acromesomelic dysplasia, Demirhan type2 tests
Acromesomelic dysplasia, Hunter-Thompson type4 tests
Acromesomelic dysplasia, Maroteaux type2 tests
Acromicric dysplasia8 tests
Acth-independent macronodular adrenal hyperplasia 22 tests
Aculeiform cataract1 test
Acute encephalopathy1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2 tests
Acute intermittent porphyria3 tests
Acute lymphoid leukemia2 tests
Acute myeloid leukemia13 tests
Acute neuronopathic Gaucher's disease3 tests
Acyl-CoA dehydrogenase family, member 9, deficiency of6 tests
Adams-Oliver syndrome2 tests
Adams-Oliver syndrome 17 tests
Adams-Oliver syndrome 27 tests
Adams-Oliver syndrome 32 tests
Adams-Oliver syndrome 44 tests
Adams-Oliver syndrome 55 tests
Adams-Oliver syndrome 64 tests
Adenine phosphoribosyltransferase deficiency1 test
Adenosine triphosphate, elevated, of erythrocytes1 test
Adenylate kinase deficiency, hemolytic anemia due to1 test
Adenylosuccinate lyase deficiency8 tests
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete7 tests
Adrenocortical carcinoma, hereditary5 tests
Adrenoleukodystrophy10 tests
Adult hypophosphatasia6 tests
Adult neuronal ceroid lipofuscinosis5 tests
Adult polyglucosan body disease2 tests
Adult proximal spinal muscular atrophy, autosomal dominant2 tests
Afibrinogenemia, congenital4 tests
Agammaglobulinemia 2, autosomal recessive2 tests
Agammaglobulinemia 3, autosomal recessive2 tests
Agammaglobulinemia 4, autosomal recessive2 tests
Agammaglobulinemia 5, autosomal dominant2 tests
Agammaglobulinemia 6, autosomal recessive2 tests
Agammaglobulinemia 7, autosomal recessive5 tests
Agammaglobulinemia 8, autosomal dominant2 tests
Age-related macular degeneration 12 tests
Age-related macular degeneration 21 test
Age-related macular degeneration 37 tests
Age-related macular degeneration 42 tests
Age-related macular degeneration 52 tests
Age-related macular degeneration 62 tests
Agenesis of the corpus callosum with peripheral neuropathy3 tests
Agnathia-otocephaly complex2 tests
Aicardi Goutieres syndrome 15 tests
Aicardi Goutieres syndrome 25 tests
Aicardi Goutieres syndrome 35 tests
Aicardi Goutieres syndrome 45 tests
Aicardi Goutieres syndrome 55 tests
Aicardi-Goutieres syndrome 64 tests
Aicardi-Goutieres syndrome 73 tests
Alacrima, achalasia, and mental retardation syndrome1 test
Alagille syndrome 110 tests
Alagille syndrome 210 tests
Alazami syndrome1 test
Alazami-Yuan syndrome1 test
Albinism, ocular, with sensorineural deafness6 tests
Albinism, oculocutaneous, type VII3 tests
Alexander Disease5 tests
Alkaptonuria1 test
Alkuraya-Kucinskas syndrome4 tests
Allan-Herndon-Dudley syndrome6 tests
Alopecia congenita keratosis palmoplantaris1 test
Alpha thalassemia-X-linked intellectual disability syndrome14 tests
Alpha-1-antitrypsin deficiency2 tests
Alpha-2-plasmin inhibitor deficiency3 tests
Alpha-B crystallinopathy4 tests
Alpha-N-acetylgalactosaminidase deficiency type 13 tests
Alpha-N-acetylgalactosaminidase deficiency type 22 tests
Alpha-methylacyl-CoA racemase deficiency3 tests
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity2 tests
Alport syndrome4 tests
Alport syndrome 1, X-linked recessive4 tests
Alport syndrome 3, autosomal dominant4 tests
Alport syndrome, autosomal recessive5 tests
Alstrom syndrome8 tests
Alternating hemiplegia of childhood 14 tests
Alternating hemiplegia of childhood 26 tests
Alveolar rhabdomyosarcoma (disease)3 tests
Alzheimer disease5 tests
Alzheimer disease, type 34 tests
Alzheimer disease, type 45 tests
Alzheimer disease, type 91 test
Amaurosis-hypertrichosis syndrome4 tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local2 tests
Amelogenesis imperfecta type 1G3 tests
Amelogenesis imperfecta, hypocalcification type2 tests
Amelogenesis imperfecta, hypomaturation type IIA42 tests
Amelogenesis imperfecta, hypomaturation type IIA51 test
Amelogenesis imperfecta, hypomaturation type IIA61 test
Amelogenesis imperfecta, hypomaturation type, IIA12 tests
Amelogenesis imperfecta, hypomaturation type, IIA22 tests
Amelogenesis imperfecta, hypomaturation type, IIA32 tests
Amelogenesis imperfecta, type 1E3 tests
Amelogenesis imperfecta, type IA2 tests
Amelogenesis imperfecta, type IC2 tests
Amelogenesis imperfecta, type IH1 test
Amelogenesis imperfecta, type IV2 tests
Aminoacylase 1 deficiency3 tests
Aminoglycoside-induced deafness1 test
Amish lethal microcephaly2 tests
Amyloidogenic transthyretin amyloidosis7 tests
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia3 tests
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia4 tests
Amyotrophic lateral sclerosis 16, juvenile1 test
Amyotrophic lateral sclerosis 174 tests
Amyotrophic lateral sclerosis 183 tests
Amyotrophic lateral sclerosis 192 tests
Amyotrophic lateral sclerosis 204 tests
Amyotrophic lateral sclerosis 215 tests
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia4 tests
Amyotrophic lateral sclerosis and/or frontotemporal dementia 14 tests
Amyotrophic lateral sclerosis type 13 tests
Amyotrophic lateral sclerosis type 105 tests
Amyotrophic lateral sclerosis type 115 tests
Amyotrophic lateral sclerosis type 124 tests
Amyotrophic lateral sclerosis type 23 tests
Amyotrophic lateral sclerosis type 233 tests
Amyotrophic lateral sclerosis type 43 tests
Amyotrophic lateral sclerosis type 83 tests
Amyotrophic lateral sclerosis type 93 tests
Amyotrophic lateral sclerosis, susceptibility to, 244 tests
Amyotrophic lateral sclerosis, susceptibility to, 252 tests
Anauxetic dysplasia 12 tests
Andersen Tawil syndrome7 tests
Androgen resistance syndrome7 tests
Anemia without thromobocytopenia, X-linked4 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
Anemia, sideroblastic, 12 tests
Anemia, sideroblastic, 2, pyridoxine-refractory2 tests
Angelman syndrome9 tests
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps5 tests
Aniridia 18 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome13 tests
Anterior segment dysgenesis4 tests
Anterior segment dysgenesis 15 tests
Anterior segment dysgenesis 36 tests
Anterior segment dysgenesis 48 tests
Anterior segment dysgenesis 61 test
Anterior segment dysgenesis 76 tests
Anterior segment dysgenesis 82 tests
Antithrombin III deficiency1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis10 tests
Aortic aneurysm, familial thoracic 106 tests
Aortic aneurysm, familial thoracic 11, susceptibility to6 tests
Aortic aneurysm, familial thoracic 47 tests
Aortic aneurysm, familial thoracic 67 tests
Aortic aneurysm, familial thoracic 76 tests
Aortic aneurysm, familial thoracic 85 tests
Aortic aneurysm, familial thoracic 94 tests
Aortic valve disease 21 test
Aortic valve disorder6 tests
Aplastic anemia2 tests
Apolipoprotein C2 deficiency2 tests
Apparent mineralocorticoid excess1 test
Arginase deficiency7 tests
Arginine:glycine amidinotransferase deficiency5 tests
Argininosuccinate lyase deficiency3 tests
Armfield X-linked mental retardation syndrome1 test
Aromatase deficiency2 tests
Aromatase excess syndrome5 tests
Arrhinia with choanal atresia and microphthalmia syndrome1 test
Arrhythmogenic right ventricular cardiomyopathy, type 107 tests
Arrhythmogenic right ventricular cardiomyopathy, type 117 tests
Arrhythmogenic right ventricular cardiomyopathy, type 127 tests
Arrhythmogenic right ventricular cardiomyopathy, type 55 tests
Arrhythmogenic right ventricular dysplasia 88 tests
Arrhythmogenic right ventricular dysplasia 96 tests
Arrhythmogenic right ventricular dysplasia, familial 17 tests
Arrhythmogenic right ventricular dysplasia, familial, 131 test
Arrhythmogenic right ventricular dysplasia, familial, 28 tests
Arterial calcification, generalized, of infancy, 13 tests
Arterial tortuosity syndrome6 tests
Arteriohepatic dysplasia1 test
Arthrogryposis multiplex congenita 2, neurogenic type1 test
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum1 test
Arthrogryposis multiplex congenita, neurogenic, with myelin defect1 test
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development2 tests
Arthrogryposis, distal, type 2b22 tests
Arthrogryposis, distal, type 2b31 test
Arthrogryposis, perthes disease, and upward gaze palsy1 test
Arthrogryposis, renal dysfunction, and cholestasis 12 tests
Arthrogryposis, renal dysfunction, and cholestasis 22 tests
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome2 tests
Arts syndrome3 tests
Asparagine synthetase deficiency1 test
Aspartylglucosaminuria3 tests
Asperger syndrome X-linked 13 tests
Asperger syndrome X-linked 23 tests
Asphyxiating thoracic dystrophy 24 tests
Asphyxiating thoracic dystrophy 43 tests
Asphyxiating thoracic dystrophy 52 tests
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus2 tests
Ataxia, sensory, autosomal dominant1 test
Ataxia, spastic, 1, autosomal dominant3 tests
Ataxia, spastic, 2, autosomal recessive3 tests
Ataxia, spastic, 3, autosomal recessive2 tests
Ataxia, spastic, 4, autosomal recessive3 tests
Ataxia-oculomotor apraxia 31 test
Ataxia-oculomotor apraxia 42 tests
Ataxia-oculomotor apraxia type 15 tests
Ataxia-pancytopenia syndrome4 tests
Ataxia-telangiectasia syndrome13 tests
Ataxia-telangiectasia-like disorder6 tests
Ataxia-telangiectasia-like disorder 12 tests
Atelosteogenesis type 12 tests
Atelosteogenesis type II6 tests
Atelosteogenesis type III2 tests
Atrial fibrillation, familial, 106 tests
Atrial fibrillation, familial, 114 tests
Atrial fibrillation, familial, 127 tests
Atrial fibrillation, familial, 132 tests
Atrial fibrillation, familial, 145 tests
Atrial fibrillation, familial, 182 tests
Atrial fibrillation, familial, 36 tests
Atrial fibrillation, familial, 44 tests
Atrial fibrillation, familial, 64 tests
Atrial fibrillation, familial, 75 tests
Atrial fibrillation, familial, 95 tests
Atrial septal defect 26 tests
Atrial septal defect 35 tests
Atrial septal defect 41 test
Atrial septal defect 55 tests
Atrial septal defect 61 test
Atrial septal defect 7 with or without atrioventricular conduction defects5 tests
Atrial septal defect 81 test
Atrial septal defect 93 tests
Atrioventricular septal defect 22 tests
Atrioventricular septal defect 33 tests
Atrioventricular septal defect 46 tests
Atrioventricular septal defect 53 tests
Atrophia bulborum hereditaria8 tests
Atypical mycobacteriosis, familial, X-linked 22 tests
Auditory neuropathy, autosomal dominant, 11 test
Auditory neuropathy-optic atrophy syndrome2 tests
Aural atresia, congenital1 test
Autism 152 tests
Autism 172 tests
Autism 52 tests
Autism spectrum disorder1 test
Autism, susceptibility to, 185 tests
Autism, susceptibility to, X-linked 13 tests
Autism, susceptibility to, X-linked 24 tests
Autism, susceptibility to, X-linked 34 tests
Autism, susceptibility to, X-linked 43 tests
Autism, susceptibility to, X-linked 51 test
Autism, susceptibility to, X-linked 61 test
Autistic disorder of childhood onset3 tests
Autoimmune disease, multisystem, infantile-onset, 15 tests
Autoimmune disease, multisystem, infantile-onset, 21 test
Autoimmune disease, syndromic multisystem1 test
Autoimmune lymphoproliferative syndrome2 tests
Autoimmune lymphoproliferative syndrome type 2B1 test
Autoimmune lymphoproliferative syndrome type V3 tests
Autoimmune lymphoproliferative syndrome, type 2A1 test
Autoimmune lymphoproliferative syndrome, type III3 tests
Autoinflammation with infantile enterocolitis2 tests
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated2 tests
Autoinflammation, immune dysregulation, and eosinophilia1 test
Autoinflammatory syndrome, familial, Behcet-like2 tests
Autosomal dominant distal renal tubular acidosis4 tests
Autosomal dominant hypophosphatemic rickets3 tests
Autosomal dominant macrothrombocytopenia TUBB1-related3 tests
Autosomal dominant medullary cystic kidney disease with hyperuricemia2 tests
Autosomal dominant nonsyndromic deafness 173 tests
Autosomal dominant nonsyndromic deafness 2A2 tests
Autosomal dominant nonsyndromic deafness 64 tests
Autosomal dominant optic atrophy classic form8 tests
Autosomal dominant osteopetrosis 15 tests
Autosomal dominant osteopetrosis 22 tests
Autosomal dominant polycystic kidney disease7 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 17 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 25 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 36 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 46 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 56 tests
Autosomal dominant pseudohypoaldosteronism type 12 tests
Autosomal dominant torsion dystonia 44 tests
Autosomal recessive DOPA responsive dystonia4 tests
Autosomal recessive Kenny-Caffey syndrome3 tests
Autosomal recessive agammaglobulinemia 12 tests
Autosomal recessive axonal neuropathy with neuromyotonia3 tests
Autosomal recessive congenital ichthyosis 13 tests
Autosomal recessive congenital ichthyosis 103 tests
Autosomal recessive congenital ichthyosis 23 tests
Autosomal recessive congenital ichthyosis 33 tests
Autosomal recessive congenital ichthyosis 4A5 tests
Autosomal recessive congenital ichthyosis 4B4 tests
Autosomal recessive congenital ichthyosis 53 tests
Autosomal recessive congenital ichthyosis 63 tests
Autosomal recessive congenital ichthyosis 82 tests
Autosomal recessive congenital ichthyosis 92 tests
Autosomal recessive cutis laxa type 1B8 tests
Autosomal recessive cutis laxa type 2B4 tests
Autosomal recessive cutis laxa type 2c2 tests
Autosomal recessive cutis laxa type 2d3 tests
Autosomal recessive cutis laxa type 3B3 tests
Autosomal recessive cutis laxa type IA7 tests
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome3 tests
Autosomal recessive hypophosphatemic bone disease5 tests
Autosomal recessive hypophosphatemic vitamin D refractory rickets3 tests
Autosomal recessive keratitis-ichthyosis-deafness syndrome2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G6 tests
Autosomal recessive multiple pterygium syndrome5 tests
Autosomal recessive omodysplasia1 test
Autosomal recessive osteopetrosis 13 tests
Autosomal recessive osteopetrosis 22 tests
Autosomal recessive osteopetrosis 42 tests
Autosomal recessive osteopetrosis 72 tests
Autosomal recessive polycystic kidney disease6 tests
Autosomal recessive pseudohypoaldosteronism type 14 tests
Avascular necrosis of the head of femur9 tests
Avellino corneal dystrophy2 tests
Axenfeld-Rieger syndrome type 110 tests
Axenfeld-Rieger syndrome type 36 tests
Axenfeld-rieger anomaly1 test
Axial spondylometaphyseal dysplasia2 tests
Ayme-gripp syndrome5 tests
B-cell expansion with NFKB and T-cell anergy1 test
B4GALT1-CDG1 test
BCC13 tests
BH4-deficient hyperphenylalaninemia A2 tests
BLOOD GROUP--LUTHERAN INHIBITOR2 tests
BNAR syndrome3 tests
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
Bailey-Bloch congenital myopathy4 tests
Bainbridge-Ropers syndrome3 tests
Baller-Gerold syndrome6 tests
Bamforth-Lazarus syndrome3 tests
Band heterotopia3 tests
Bannayan-Riley-Ruvalcaba syndrome10 tests
Baraitser-Winter Syndrome 25 tests
Baraitser-Winter syndrome 18 tests
Barber-Say syndrome3 tests
Bardet-Biedl syndrome15 tests
Bardet-Biedl syndrome 16 tests
Bardet-Biedl syndrome 1010 tests
Bardet-Biedl syndrome 118 tests
Bardet-Biedl syndrome 1210 tests
Bardet-Biedl syndrome 139 tests
Bardet-Biedl syndrome 145 tests
Bardet-Biedl syndrome 156 tests
Bardet-Biedl syndrome 165 tests
Bardet-Biedl syndrome 176 tests
Bardet-Biedl syndrome 186 tests
Bardet-Biedl syndrome 196 tests
Bardet-Biedl syndrome 29 tests
Bardet-Biedl syndrome 205 tests
Bardet-Biedl syndrome 213 tests
Bardet-Biedl syndrome 34 tests
Bardet-Biedl syndrome 410 tests
Bardet-Biedl syndrome 510 tests
Bardet-Biedl syndrome 61 test
Bardet-Biedl syndrome 710 tests
Bardet-Biedl syndrome 87 tests
Bardet-Biedl syndrome 910 tests
Bartsocas-Papas syndrome7 tests
Bartter disease type 4a4 tests
Bartter syndrome, type 1, antenatal3 tests
Bartter syndrome, type 2, antenatal3 tests
Basal cell carcinoma, susceptibility to, 74 tests
Basal ganglia calcification, idiopathic, 44 tests
Basal ganglia calcification, idiopathic, 62 tests
Basal laminar drusen1 test
Basan syndrome1 test
Beare-Stevenson cutis gyrata syndrome6 tests
Becker muscular dystrophy4 tests
Beckwith-Wiedemann syndrome11 tests
Benign familial hematuria2 tests
Benign familial neonatal seizures 14 tests
Benign familial neonatal seizures 26 tests
Benign hereditary chorea2 tests
Benign recurrent intrahepatic cholestasis type 22 tests
Bent bone dysplasia syndrome9 tests
Bernard Soulier syndrome8 tests
Bernard-Soulier syndrome, type A2, autosomal dominant4 tests
Bestrophinopathy, autosomal recessive7 tests
Beta-D-mannosidosis2 tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency4 tests
Bethlem myopathy 17 tests
Bethlem myopathy 27 tests
Beukes hip dysplasia1 test
Bietti crystalline corneoretinal dystrophy2 tests
Bifunctional peroxisomal enzyme deficiency4 tests
Bilateral right-sidedness sequence1 test
Bile acid malabsorption, primary1 test
Bile acid synthesis defect, congenital, 32 tests
Bile acid synthesis defect, congenital, 52 tests
Biotin-responsive basal ganglia disease8 tests
Biotinidase deficiency4 tests
Blau syndrome3 tests
Bleeding disorder, platelet-type, 211 test
Bleeding disorder, platelet-type, 221 test
Blepharocheilodontic syndrome 13 tests
Blepharocheilodontic syndrome 21 test
Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
Blepharophimosis, ptosis, and epicanthus inversus6 tests
Bloom syndrome6 tests
Body mass index quantitative trait locus 122 tests
Body mass index quantitative trait locus 181 test
Body mass index quantitative trait locus 41 test
Body mass index quantitative trait locus 91 test
Bohring-Opitz syndrome3 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone marrow failure syndrome 15 tests
Bone marrow failure syndrome 21 test
Bone marrow failure syndrome 32 tests
Bone marrow failure syndrome 41 test
Bone marrow failure syndrome 52 tests
Bone mineral density quantitative trait locus 11 test
Bone mineral density quantitative trait locus 161 test
Bone mineral density quantitative trait locus 185 tests
Boomerang dysplasia2 tests
Borjeson-Forssman-Lehmann syndrome7 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome4 tests
Bothnia retinal dystrophy6 tests
Brachydactyly type A27 tests
Brachydactyly type B15 tests
Brachydactyly type B25 tests
Brachydactyly type C5 tests
Brachydactyly type D4 tests
Brachydactyly type E14 tests
Brachydactyly type E21 test
Brachydactyly, type a1, c3 tests
Brachydactyly, type a1, d2 tests
Brachydactyly-arterial hypertension syndrome3 tests
Brachydactyly-syndactyly syndrome3 tests
Brachyrachia (short spine dysplasia)1 test
Bradyopsia4 tests
Brain abnormalities, neurodegeneration, and dysosteosclerosis2 tests
Brain malformations and urinary tract defects1 test
Brain small vessel disease 1 with or without ocular anomalies11 tests
Brain small vessel disease 33 tests
Brain small vessel disease with hemorrhage2 tests
Branched-chain keto acid dehydrogenase kinase deficiency5 tests
Branchiooculofacial syndrome4 tests
Branchiootic syndrome 15 tests
Branchiootic syndrome 34 tests
Branchiootorenal Syndrome 14 tests
Branchiootorenal syndrome 24 tests
Breast-ovarian cancer, familial 112 tests
Breast-ovarian cancer, familial 215 tests
Breast-ovarian cancer, familial 36 tests
Breast-ovarian cancer, familial 48 tests
Brittle cornea syndrome 14 tests
Brittle cornea syndrome 25 tests
Brody myopathy2 tests
Bronchiectasis with or without elevated sweat chloride 11 test
Brown-Vialetto-Van Laere syndrome 14 tests
Brown-Vialetto-Van Laere syndrome 24 tests
Bruck syndrome 25 tests
Brugada syndrome2 tests
Brugada syndrome 17 tests
Brugada syndrome 25 tests
Brugada syndrome 35 tests
Brugada syndrome 46 tests
Brugada syndrome 53 tests
Brugada syndrome 65 tests
Brugada syndrome 75 tests
Brugada syndrome 84 tests
Brugada syndrome 94 tests
Brunner syndrome4 tests
Budd-Chiari syndrome1 test
Bull's eye macular dystrophy1 test
Bullous ichthyosiform erythroderma3 tests
CARASIL5 tests
CCDC115-CDG1 test
CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy1 test
CEDNIK syndrome2 tests
CHARGE association20 tests
CHIME syndrome2 tests
CK syndrome5 tests
CODAS syndrome1 test
COG1 congenital disorder of glycosylation1 test
COG7 congenital disorder of glycosylation2 tests
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq1 test
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B1 test
CYP2C19-related poor drug metabolism1 test
Café-au-lait macules with pulmonary stenosis4 tests
Calcification of joints and arteries1 test
Calcium oxalate urolithiasis2 tests
Camptodactyly-tall stature-scoliosis-hearing loss syndrome10 tests
Camptomelic dysplasia12 tests
Camptosynpolydactyly, complex4 tests
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth3 tests
Capillary malformation-arteriovenous malformation 12 tests
Capillary malformation-arteriovenous malformation 22 tests
Carbonic anhydrase VA deficiency, hyperammonemia due to4 tests
Carcinoid tumor of intestine4 tests
Carcinoma of cervix4 tests
Carcinoma of colon7 tests
Carcinoma of pancreas6 tests
Cardiac arrhythmia, ankyrin B-related7 tests
Cardiac conduction disease with or without dilated cardiomyopathy1 test
Cardiac valvular dysplasia, X-linked11 tests
Cardiac, facial, and digital anomalies with developmental delay1 test
Cardiac-urogenital syndrome2 tests
Cardio-facio-cutaneous syndrome2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency6 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 25 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 33 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 43 tests
Cardiofaciocutaneous syndrome 18 tests
Cardiofaciocutaneous syndrome 28 tests
Cardiofaciocutaneous syndrome 38 tests
Cardiofaciocutaneous syndrome 48 tests
Cardiomyopathy1 test
Cardiomyopathy, dilated, 1NN2 tests
Cardiomyopathy, dilated, 2b3 tests
Cardiomyopathy, dilated, 2c1 test
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis1 test
Cardiomyopathy, familial hypertrophic 272 tests
Cardiomyopathy, familial hypertrophic, 263 tests
Carney complex variant2 tests
Carney complex, type 15 tests
Carney-Stratakis syndrome6 tests
Carnitine acylcarnitine translocase deficiency7 tests
Carnitine palmitoyltransferase 1A deficiency5 tests
Carnitine palmitoyltransferase II deficiency, infantile5 tests
Carnitine palmitoyltransferase II deficiency, lethal neonatal5 tests
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced5 tests
Carpenter syndrome1 test
Carpenter syndrome 12 tests
Carpenter syndrome 22 tests
Cataract (disease)2 tests
Cataract 14 tests
Cataract 115 tests
Cataract 12, multiple types3 tests
Cataract 13 with adult i phenotype3 tests
Cataract 15, multiple types4 tests
Cataract 16, multiple types3 tests
Cataract 183 tests
Cataract 19, multiple types4 tests
Cataract 20 multiple types3 tests
Cataract 21, multiple types6 tests
Cataract 23, multiple types5 tests
Cataract 3, multiple types4 tests
Cataract 303 tests
Cataract 31 multiple types4 tests
Cataract 33, multiple types4 tests
Cataract 34, multiple types5 tests
Cataract 39, multiple types4 tests
Cataract 42 tests
Cataract 406 tests
Cataract 415 tests
Cataract 421 test
Cataract 431 test
Cataract 441 test
Cataract 452 tests
Cataract 5 multiple types3 tests
Cataract 6, multiple types3 tests
Cataract Hutterite type1 test
Cataract, autosomal dominant4 tests
Cataract, autosomal recessive congenital 43 tests
Cataract, autosomal recessive congenital 56 tests
Cataract, congenital nuclear, autosomal recessive 24 tests
Cataract, congenital nuclear, autosomal recessive 34 tests
Cataract, congenital zonular, with sutural opacities4 tests
Cataract, juvenile, with microcornea and glucosuria3 tests
Cataract-intellectual disability-hypogonadism syndrome5 tests
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia2 tests
Catecholaminergic polymorphic ventricular tachycardia3 tests
Catecholaminergic polymorphic ventricular tachycardia type 14 tests
Catel Manzke syndrome1 test
Celiac disease 32 tests
Cenani-Lenz syndactyly syndrome5 tests
Central core myopathy6 tests
Central precocious puberty1 test
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency4 tests
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 13 tests
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome5 tests
Cerebellar atrophy with seizures and variable developmental delay2 tests
Cerebellar atrophy, developmental delay, and seizures4 tests
Cerebellar atrophy, visual impairment, and psychomotor retardation4 tests
Cerebellar, ocular, craniofacial, and genital syndrome2 tests
Cerebral amyloid angiopathy, APP-related1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 24 tests
Cerebral arteriovenous malformation3 tests
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy3 tests
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 13 tests
Cerebral cavernous malformation3 tests
Cerebral cavernous malformations 23 tests
Cerebral cavernous malformations 32 tests
Cerebral folate transport deficiency9 tests
Cerebral palsy, spastic quadriplegic, 13 tests
Cerebral palsy, spastic quadriplegic, 22 tests
Cerebrooculofacioskeletal syndrome 13 tests
Cerebrooculofacioskeletal syndrome 23 tests
Cerebrooculofacioskeletal syndrome 33 tests
Cerebrooculofacioskeletal syndrome 44 tests
Cerebroretinal microangiopathy with calcifications and cysts3 tests
Cerebroretinal microangiopathy with calcifications and cysts 14 tests
Cerebroretinal microangiopathy with calcifications and cysts 22 tests
Ceroid lipofuscinosis neuronal 27 tests
Ceroid lipofuscinosis, neuronal, 117 tests
Ceroid lipofuscinosis, neuronal, 134 tests
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant6 tests
Char syndrome3 tests
Charcot-Marie-Tooth Neuropathy X Type 14 tests
Charcot-Marie-Tooth disease axonal type 2C7 tests
Charcot-Marie-Tooth disease axonal type 2F5 tests
Charcot-Marie-Tooth disease dominant intermediate d4 tests
Charcot-Marie-Tooth disease type 2B5 tests
Charcot-Marie-Tooth disease type 2B17 tests
Charcot-Marie-Tooth disease type 2B24 tests
Charcot-Marie-Tooth disease type 2D6 tests
Charcot-Marie-Tooth disease type 2E5 tests
Charcot-Marie-Tooth disease type 2I5 tests
Charcot-Marie-Tooth disease type 2J5 tests
Charcot-Marie-Tooth disease type 2K4 tests
Charcot-Marie-Tooth disease type 2P3 tests
Charcot-Marie-Tooth disease, X-linked dominant, 65 tests
Charcot-Marie-Tooth disease, X-linked recessive, type 57 tests
Charcot-Marie-Tooth disease, axonal type 2V1 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B2 tests
Charcot-Marie-Tooth disease, axonal, type 2CC2 tests
Charcot-Marie-Tooth disease, axonal, type 2O7 tests
Charcot-Marie-Tooth disease, axonal, type 2Q4 tests
Charcot-Marie-Tooth disease, axonal, type 2R4 tests
Charcot-Marie-Tooth disease, axonal, type 2S3 tests
Charcot-Marie-Tooth disease, axonal, type 2T1 test
Charcot-Marie-Tooth disease, axonal, type 2u4 tests
Charcot-Marie-Tooth disease, axonal, type 2w1 test
Charcot-Marie-Tooth disease, axonal, type 2y3 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive4 tests
Charcot-Marie-Tooth disease, demyelinating, type 1b5 tests
Charcot-Marie-Tooth disease, demyelinating, type 1d2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1f5 tests
Charcot-Marie-Tooth disease, demyelinating, type 4F6 tests
Charcot-Marie-Tooth disease, dominant intermediate B5 tests
Charcot-Marie-Tooth disease, dominant intermediate C4 tests
Charcot-Marie-Tooth disease, dominant intermediate E5 tests
Charcot-Marie-Tooth disease, dominant intermediate F5 tests
Charcot-Marie-Tooth disease, recessive intermediate A4 tests
Charcot-Marie-Tooth disease, recessive intermediate B7 tests
Charcot-Marie-Tooth disease, recessive intermediate c4 tests
Charcot-Marie-Tooth disease, recessive intermediate d6 tests
Charcot-Marie-Tooth disease, type 1C4 tests
Charcot-Marie-Tooth disease, type 21 test
Charcot-Marie-Tooth disease, type 2A2A8 tests
Charcot-Marie-Tooth disease, type 2L6 tests
Charcot-Marie-Tooth disease, type 2N4 tests
Charcot-Marie-Tooth disease, type 4A4 tests
Charcot-Marie-Tooth disease, type 4B15 tests
Charcot-Marie-Tooth disease, type 4B27 tests
Charcot-Marie-Tooth disease, type 4B37 tests
Charcot-Marie-Tooth disease, type 4C5 tests
Charcot-Marie-Tooth disease, type 4D5 tests
Charcot-Marie-Tooth disease, type 4H4 tests
Charcot-Marie-Tooth disease, type 4J9 tests
Charcot-Marie-Tooth disease, type 4k2 tests
Charcot-Marie-Tooth disease, type IA4 tests
Charcot-marie-tooth disease, axonal, type 2ee2 tests
Charlevoix-Saguenay spastic ataxia3 tests
Child syndrome6 tests
Childhood hypophosphatasia6 tests
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia2 tests
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1 test
Choanal atresia and lymphedema1 test
Cholestanol storage disease8 tests
Cholestasis, benign recurrent intrahepatic 12 tests
Cholestasis, progressive familial intrahepatic, 51 test
Cholesterol monooxygenase (side-chain cleaving) deficiency6 tests
Chondrodysplasia Blomstrand type2 tests
Chondrodysplasia punctata1 test
Chondrodysplasia punctata 2 X-linked dominant7 tests
Chondrodysplasia with joint dislocations, GPAPP type2 tests
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia2 tests
Chops syndrome3 tests
Choreoathetosis, hypothyroidism, and neonatal respiratory distress5 tests
Choroid plexus papilloma7 tests
Choroidal dystrophy, central areolar 21 test
Choroideremia7 tests
Christianson syndrome9 tests
Chromosome 17q11.2 deletion syndrome, 1.4 MB1 test
Chromosome 2q32-q33 deletion syndrome4 tests
Chromosome Xq28 deletion syndrome1 test
Chronic granulomatous disease1 test
Chronic granulomatous disease, X-linked4 tests
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 23 tests
Chronic infantile neurological, cutaneous and articular syndrome3 tests
Chronic pancreatitis1 test
Chudley-McCullough syndrome4 tests
Chylomicron retention disease1 test
Chédiak-Higashi syndrome9 tests
Ciliary dyskinesia, primary, 105 tests
Ciliary dyskinesia, primary, 114 tests
Ciliary dyskinesia, primary, 124 tests
Ciliary dyskinesia, primary, 135 tests
Ciliary dyskinesia, primary, 145 tests
Ciliary dyskinesia, primary, 155 tests
Ciliary dyskinesia, primary, 165 tests
Ciliary dyskinesia, primary, 175 tests
Ciliary dyskinesia, primary, 185 tests
Ciliary dyskinesia, primary, 195 tests
Ciliary dyskinesia, primary, 25 tests
Ciliary dyskinesia, primary, 205 tests
Ciliary dyskinesia, primary, 214 tests
Ciliary dyskinesia, primary, 225 tests
Ciliary dyskinesia, primary, 265 tests
Ciliary dyskinesia, primary, 274 tests
Ciliary dyskinesia, primary, 285 tests
Ciliary dyskinesia, primary, 294 tests
Ciliary dyskinesia, primary, 35 tests
Ciliary dyskinesia, primary, 305 tests
Ciliary dyskinesia, primary, 324 tests
Ciliary dyskinesia, primary, 335 tests
Ciliary dyskinesia, primary, 344 tests
Ciliary dyskinesia, primary, 355 tests
Ciliary dyskinesia, primary, 36, X-linked4 tests
Ciliary dyskinesia, primary, 374 tests
Ciliary dyskinesia, primary, 383 tests
Ciliary dyskinesia, primary, 393 tests
Ciliary dyskinesia, primary, 405 tests
Ciliary dyskinesia, primary, 413 tests
Ciliary dyskinesia, primary, 423 tests
Ciliary dyskinesia, primary, 434 tests
Ciliary dyskinesia, primary, 453 tests
Ciliary dyskinesia, primary, 65 tests
Ciliary dyskinesia, primary, 75 tests
Ciliary dyskinesia, primary, 95 tests
Ciliopathy1 test
Citrullinemia type I3 tests
Citrullinemia type II7 tests
Clark-Baraitser syndrome2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Classic homocystinuria10 tests
Cleft lip/palate-ectodermal dysplasia syndrome3 tests
Cleft palate with or without ankyloglossia, X-linked2 tests
Cleft palate, cardiac defects, and mental retardation5 tests
Cleft palate, psychomotor retardation, and distinctive facial features3 tests
Cleidocranial dysostosis2 tests
Clubfoot2 tests
Cobalamin C disease6 tests
Cockayne syndrome B3 tests
Cockayne syndrome type A5 tests
Cocoon syndrome1 test
Coenzyme Q10 deficiency, primary5 tests
Coenzyme Q10 deficiency, primary 12 tests
Coenzyme Q10 deficiency, primary, 23 tests
Coenzyme Q10 deficiency, primary, 35 tests
Coenzyme Q10 deficiency, primary, 43 tests
Coenzyme Q10 deficiency, primary, 56 tests
Coenzyme Q10 deficiency, primary, 64 tests
Coenzyme Q10 deficiency, primary, 74 tests
Coenzyme Q10 deficiency, primary, 81 test
Coffin-Lowry syndrome2 tests
Coffin-Siris syndrome1 test
Coffin-Siris syndrome 19 tests
Coffin-Siris syndrome 54 tests
Coffin-Siris syndrome 71 test
Coffin-Siris syndrome 81 test
Cognitive impairment with or without cerebellar ataxia4 tests
Cohen syndrome10 tests
Cohen-Gibson syndrome1 test
Colchicine resistance1 test
Cole disease2 tests
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 25 tests
Collagen VI-related myopathy2 tests
Coloboma of optic disc5 tests
Coloboma, ocular, autosomal dominant2 tests
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation2 tests
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness2 tests
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome4 tests
Colorectal cancer4 tests
Colorectal cancer 12 tests
Colorectal cancer 108 tests
Colorectal cancer, susceptibility to, 124 tests
Combined cellular and humoral immune defects with granulomas3 tests
Combined d-2- and l-2-hydroxyglutaric aciduria5 tests
Combined deficiency of factor V and factor VIII, 13 tests
Combined deficiency of sialidase AND beta galactosidase7 tests
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
Combined immunodeficiency due to STIM1 deficiency2 tests
Combined immunodeficiency due to ZAP70 deficiency1 test
Combined immunodeficiency, X-linked3 tests
Combined malonic and methylmalonic aciduria6 tests
Combined oxidative phosphorylation deficiency 15 tests
Combined oxidative phosphorylation deficiency 102 tests
Combined oxidative phosphorylation deficiency 111 test
Combined oxidative phosphorylation deficiency 124 tests
Combined oxidative phosphorylation deficiency 133 tests
Combined oxidative phosphorylation deficiency 147 tests
Combined oxidative phosphorylation deficiency 154 tests
Combined oxidative phosphorylation deficiency 161 test
Combined oxidative phosphorylation deficiency 171 test
Combined oxidative phosphorylation deficiency 181 test
Combined oxidative phosphorylation deficiency 191 test
Combined oxidative phosphorylation deficiency 21 test
Combined oxidative phosphorylation deficiency 201 test
Combined oxidative phosphorylation deficiency 211 test
Combined oxidative phosphorylation deficiency 222 tests
Combined oxidative phosphorylation deficiency 232 tests
Combined oxidative phosphorylation deficiency 243 tests
Combined oxidative phosphorylation deficiency 251 test
Combined oxidative phosphorylation deficiency 262 tests
Combined oxidative phosphorylation deficiency 273 tests
Combined oxidative phosphorylation deficiency 281 test
Combined oxidative phosphorylation deficiency 34 tests
Combined oxidative phosphorylation deficiency 302 tests
Combined oxidative phosphorylation deficiency 311 test
Combined oxidative phosphorylation deficiency 321 test
Combined oxidative phosphorylation deficiency 332 tests
Combined oxidative phosphorylation deficiency 342 tests
Combined oxidative phosphorylation deficiency 351 test
Combined oxidative phosphorylation deficiency 362 tests
Combined oxidative phosphorylation deficiency 372 tests
Combined oxidative phosphorylation deficiency 381 test
Combined oxidative phosphorylation deficiency 391 test
Combined oxidative phosphorylation deficiency 42 tests
Combined oxidative phosphorylation deficiency 401 test
Combined oxidative phosphorylation deficiency 412 tests
Combined oxidative phosphorylation deficiency 421 test
Combined oxidative phosphorylation deficiency 431 test
Combined oxidative phosphorylation deficiency 441 test
Combined oxidative phosphorylation deficiency 461 test
Combined oxidative phosphorylation deficiency 471 test
Combined oxidative phosphorylation deficiency 53 tests
Combined oxidative phosphorylation deficiency 65 tests
Combined oxidative phosphorylation deficiency 76 tests
Combined oxidative phosphorylation deficiency 83 tests
Combined oxidative phosphorylation deficiency 92 tests
Combined saposin deficiency3 tests
Common variable immunodeficiency 14 tests
Common variable immunodeficiency 104 tests
Common variable immunodeficiency 113 tests
Common variable immunodeficiency 23 tests
Common variable immunodeficiency 32 tests
Common variable immunodeficiency 42 tests
Common variable immunodeficiency 52 tests
Common variable immunodeficiency 62 tests
Common variable immunodeficiency 72 tests
Common variable immunodeficiency 8, with autoimmunity5 tests
Complement component 4, partial deficiency of1 test
Complete trisomy 21 syndrome2 tests
Complex V deficiency1 test
Cone dystrophy 33 tests
Cone dystrophy 44 tests
Cone dystrophy with supernormal rod response3 tests
Cone-rod dystrophy1 test
Cone-rod dystrophy 102 tests
Cone-rod dystrophy 113 tests
Cone-rod dystrophy 122 tests
Cone-rod dystrophy 136 tests
Cone-rod dystrophy 155 tests
Cone-rod dystrophy 166 tests
Cone-rod dystrophy 182 tests
Cone-rod dystrophy 192 tests
Cone-rod dystrophy 25 tests
Cone-rod dystrophy 203 tests
Cone-rod dystrophy 213 tests
Cone-rod dystrophy 34 tests
Cone-rod dystrophy 55 tests
Cone-rod dystrophy 65 tests
Cone-rod dystrophy 73 tests
Cone-rod dystrophy 93 tests
Cone-rod dystrophy and hearing loss2 tests
Cone-rod dystrophy and hearing loss 21 test
Cone-rod dystrophy, X-linked 14 tests
Congenital absence of salivary gland3 tests
Congenital adrenal hypoplasia, X-linked7 tests
Congenital amegakaryocytic thrombocytopenia5 tests
Congenital aneurysm of ascending aorta1 test
Congenital anomalies of kidney and urinary tract2 tests
Congenital anomalies of kidney and urinary tract 1, susceptibility to3 tests
Congenital anomalies of kidney and urinary tract 31 test
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay2 tests
Congenital anomalies of kidney and urinary tract type 21 test
Congenital anomaly of eye1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation5 tests
Congenital bile acid synthesis defect 12 tests
Congenital bile acid synthesis defect 22 tests
Congenital bile acid synthesis defect 43 tests
Congenital brain dysgenesis due to glutamine synthetase deficiency2 tests
Congenital cataracts, hearing loss, and neurodegeneration5 tests
Congenital cataracts-facial dysmorphism-neuropathy syndrome7 tests
Congenital central hypoventilation12 tests
Congenital contractural arachnodactyly8 tests
Congenital contractures of the limbs and face, hypotonia, and developmental delay6 tests
Congenital defect of folate absorption4 tests
Congenital disorder of deglycosylation5 tests
Congenital disorder of glycosylation type 1C4 tests
Congenital disorder of glycosylation type 1E7 tests
Congenital disorder of glycosylation type 1M4 tests
Congenital disorder of glycosylation type 1N1 test
Congenital disorder of glycosylation type 1O5 tests
Congenital disorder of glycosylation type 1P1 test
Congenital disorder of glycosylation type 1Q3 tests
Congenital disorder of glycosylation type 1t5 tests
Congenital disorder of glycosylation type 1u5 tests
Congenital disorder of glycosylation type 1w1 test
Congenital disorder of glycosylation type 1x1 test
Congenital disorder of glycosylation type 1y2 tests
Congenital disorder of glycosylation type 2B3 tests
Congenital disorder of glycosylation type 2F1 test
Congenital disorder of glycosylation type 2H1 test
Congenital disorder of glycosylation type 2J2 tests
Congenital disorder of glycosylation type 2L2 tests
Congenital disorder of glycosylation type 2i2 tests
Congenital disorder of glycosylation type 2k1 test
Congenital disorder of glycosylation type Ir1 test
Congenital disorder of glycosylation with defective fucosylation 11 test
Congenital disorder of glycosylation, type IIa2 tests
Congenital disorder of glycosylation, type IIr2 tests
Congenital disorder of glycosylation, type Ia5 tests
Congenital disorder of glycosylation, type Iaa2 tests
Congenital dyserythropoietic anemia type type 1B3 tests
Congenital dyserythropoietic anemia, type I5 tests
Congenital dyserythropoietic anemia, type II5 tests
Congenital dyserythropoietic anemia, type IV5 tests
Congenital erythropoietic porphyria4 tests
Congenital fibrosis of extraocular muscles1 test
Congenital generalized lipodystrophy type 13 tests
Congenital generalized lipodystrophy type 23 tests
Congenital glucose-galactose malabsorption1 test
Congenital heart defects1 test
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2 tests
Congenital heart defects, hamartomas of tongue, and polysyndactyly2 tests
Congenital heart defects, multiple types, 21 test
Congenital heart defects, multiple types, 42 tests
Congenital heart defects, multiple types, 51 test
Congenital heart defects, multiple types, 71 test
Congenital heart disease3 tests
Congenital hydrocephalus 12 tests
Congenital hyperammonemia, type I4 tests
Congenital hypomyelinating neuropathy5 tests
Congenital hypomyelinating neuropathy 31 test
Congenital hypothyroidism1 test
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1 test
Congenital hypotrichosis with juvenile macular dystrophy2 tests
Congenital lactase deficiency1 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type5 tests
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi3 tests
Congenital macrodactylia3 tests
Congenital microvillous atrophy1 test
Congenital muscular dystrophy, LMNA-related5 tests
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B55 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A56 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A28 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A69 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A79 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B15 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B24 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B36 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B65 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B45 tests
Congenital muscular hypertrophy-cerebral syndrome13 tests
Congenital myasthenic syndrome 123 tests
Congenital myasthenic syndrome 134 tests
Congenital myasthenic syndrome 1A2 tests
Congenital myasthenic syndrome 1B, fast-channel7 tests
Congenital myasthenic syndrome 3B3 tests
Congenital myasthenic syndrome 4C4 tests
Congenital myasthenic syndrome, acetazolamide-responsive2 tests
Congenital myopathy1 test
Congenital myopathy with fiber type disproportion6 tests
Congenital myotonia, autosomal dominant form2 tests
Congenital myotonia, autosomal recessive form2 tests
Congenital ocular coloboma3 tests
Congenital plasminogen activator inhibitor type 1 deficiency2 tests
Congenital primary aphakia8 tests
Congenital secretory diarrhea, chloride type1 test
Congenital secretory diarrhea, sodium type2 tests
Congenital sensory neuropathy with selective loss of small myelinated fibers3 tests
Congenital stationary night blindness, autosomal dominant 14 tests
Congenital stationary night blindness, autosomal dominant 24 tests
Congenital stationary night blindness, autosomal dominant 32 tests
Congenital stationary night blindness, type 1A3 tests
Congenital stationary night blindness, type 1B2 tests
Congenital stationary night blindness, type 1C2 tests
Congenital stationary night blindness, type 1D4 tests
Congenital stationary night blindness, type 1E2 tests
Congenital stationary night blindness, type 1F3 tests
Congenital stationary night blindness, type 2A4 tests
Congenital stationary night blindness, type 2B6 tests
Congenital stromal corneal dystrophy2 tests
Conotruncal heart malformations9 tests
Contiguous abcd1/dxs1375e deletion syndrome1 test
Contractures, pterygia, and variable skeletal fusions syndrome 1A4 tests
Cornea plana 22 tests
Corneal dystrophy, Fuchs endothelial 13 tests
Corneal dystrophy, Fuchs endothelial, 35 tests
Corneal dystrophy, Fuchs endothelial, 41 test
Corneal dystrophy, Fuchs endothelial, 62 tests
Corneal dystrophy, Fuchs endothelial, 82 tests
Corneal dystrophy, lattice type 3A2 tests
Corneal dystrophy, posterior polymorphous 42 tests
Corneal dystrophy, posterior polymorphous, 23 tests
Corneal dystrophy-perceptive deafness syndrome1 test
Corneal endothelial dystrophy2 tests
Corneal epithelial dystrophy2 tests
Cornelia de Lange syndrome 19 tests
Cornelia de Lange syndrome 37 tests
Cornelia de Lange syndrome 49 tests
Cornelia de Lange syndrome 58 tests
Corpus callosum agenesis-abnormal genitalia syndrome9 tests
Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia2 tests
Corpus callosum, partial agenesis of, X-linked3 tests
Cortical dysplasia, complex, with other brain malformations 16 tests
Cortical dysplasia, complex, with other brain malformations 102 tests
Cortical dysplasia, complex, with other brain malformations 24 tests
Cortical dysplasia, complex, with other brain malformations 33 tests
Cortical dysplasia, complex, with other brain malformations 45 tests
Cortical dysplasia, complex, with other brain malformations 53 tests
Cortical dysplasia, complex, with other brain malformations 63 tests
Cortical dysplasia, complex, with other brain malformations 92 tests
Cortical malformations, occipital2 tests
Costello syndrome11 tests
Cowchock syndrome5 tests
Cowden syndrome5 tests
Cowden syndrome 118 tests
Cowden syndrome 31 test
Cowden syndrome 55 tests
Cowden syndrome 61 test
Cowden syndrome 72 tests
Coxa plana11 tests
Coxopodopatellar syndrome2 tests
Craniodiaphyseal dysplasia, autosomal dominant1 test
Cranioectodermal dysplasia 14 tests
Cranioectodermal dysplasia 25 tests
Cranioectodermal dysplasia 32 tests
Cranioectodermal dysplasia 42 tests
Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
Craniofacial-deafness-hand syndrome5 tests
Craniofrontonasal syndrome8 tests
Craniolenticulosutural dysplasia1 test
Craniometaphyseal dysplasia, autosomal recessive3 tests
Craniosynostosis 19 tests
Craniosynostosis 22 tests
Craniosynostosis 35 tests
Craniosynostosis 5, susceptibility to1 test
Craniosynostosis and dental anomalies1 test
Craniosynostosis syndrome1 test
Creatine transporter deficiency4 tests
Crigler-Najjar syndrome1 test
Crigler-Najjar syndrome, type II1 test
Cromer blood group system1 test
Crouzon syndrome10 tests
Crouzon syndrome with acanthosis nigricans9 tests
Cryptophthalmos syndrome6 tests
Cryptophthalmos, unilateral or bilateral, isolated3 tests
Cryptorchidism3 tests
Culler-Jones syndrome7 tests
Curly hair, ankyloblepharon, nail dysplasia syndrome3 tests
Currarino triad2 tests
Curry-Hall syndrome5 tests
Curry-Jones syndrome3 tests
Cutaneous malignant melanoma 11 test
Cutaneous malignant melanoma 23 tests
Cutaneous malignant melanoma 35 tests
Cutaneous malignant melanoma 85 tests
Cutaneous malignant melanoma 93 tests
Cutaneous telangiectasia and cancer syndrome, familial1 test
Cutis laxa with osteodystrophy8 tests
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities4 tests
Cutis laxa, X-linked5 tests
Cutis laxa, autosomal dominant 16 tests
Cutis laxa, autosomal dominant 26 tests
Cutis laxa, autosomal dominant 34 tests
Cutis laxa, autosomal recessive IIIA1 test
Cyclical neutropenia4 tests
Cystathioninuria1 test
Cystic fibrosis7 tests
Cystinuria5 tests
Czech dysplasia, metatarsal type12 tests
D-2-hydroxyglutaric aciduria 15 tests
D-2-hydroxyglutaric aciduria 24 tests
DE SANCTIS-CACCHIONE SYNDROME1 test
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome7 tests
DOORS syndrome5 tests
DPAGT1-CDG3 tests
Danon disease9 tests
De Lange syndrome3 tests
Deafness and myopia1 test
Deafness dystonia syndrome6 tests
Deafness enamel hypoplasia nail defects8 tests
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)2 tests
Deafness, X-linked 13 tests
Deafness, X-linked 22 tests
Deafness, X-linked 42 tests
Deafness, X-linked 54 tests
Deafness, X-linked 64 tests
Deafness, autosomal dominant 14 tests
Deafness, autosomal dominant 103 tests
Deafness, autosomal dominant 111 test
Deafness, autosomal dominant 122 tests
Deafness, autosomal dominant 134 tests
Deafness, autosomal dominant 152 tests
Deafness, autosomal dominant 202 tests
Deafness, autosomal dominant 224 tests
Deafness, autosomal dominant 231 test
Deafness, autosomal dominant 252 tests
Deafness, autosomal dominant 271 test
Deafness, autosomal dominant 282 tests
Deafness, autosomal dominant 2b2 tests
Deafness, autosomal dominant 34, with or without inflammation1 test
Deafness, autosomal dominant 362 tests
Deafness, autosomal dominant 371 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, autosomal dominant 3a3 tests
Deafness, autosomal dominant 3b2 tests
Deafness, autosomal dominant 42 tests
Deafness, autosomal dominant 402 tests
Deafness, autosomal dominant 411 test
Deafness, autosomal dominant 442 tests
Deafness, autosomal dominant 4b2 tests
Deafness, autosomal dominant 51 test
Deafness, autosomal dominant 501 test
Deafness, autosomal dominant 511 test
Deafness, autosomal dominant 561 test
Deafness, autosomal dominant 642 tests
Deafness, autosomal dominant 652 tests
Deafness, autosomal dominant 661 test
Deafness, autosomal dominant 671 test
Deafness, autosomal dominant 681 test
Deafness, autosomal dominant 692 tests
Deafness, autosomal dominant 701 test
Deafness, autosomal dominant 712 tests
Deafness, autosomal dominant 721 test
Deafness, autosomal dominant 731 test
Deafness, autosomal dominant 741 test
Deafness, autosomal dominant 92 tests
Deafness, autosomal recessive 1011 test
Deafness, autosomal recessive 1021 test
Deafness, autosomal recessive 1031 test
Deafness, autosomal recessive 1041 test
Deafness, autosomal recessive 1061 test
Deafness, autosomal recessive 1071 test
Deafness, autosomal recessive 1081 test
Deafness, autosomal recessive 1101 test
Deafness, autosomal recessive 1111 test
Deafness, autosomal recessive 1121 test
Deafness, autosomal recessive 1151 test
Deafness, autosomal recessive 121 test
Deafness, autosomal recessive 152 tests
Deafness, autosomal recessive 163 tests
Deafness, autosomal recessive 181 test
Deafness, autosomal recessive 18b1 test
Deafness, autosomal recessive 1A5 tests
Deafness, autosomal recessive 1b2 tests
Deafness, autosomal recessive 21 test
Deafness, autosomal recessive 212 tests
Deafness, autosomal recessive 222 tests
Deafness, autosomal recessive 232 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 311 test
Deafness, autosomal recessive 321 test
Deafness, autosomal recessive 352 tests
Deafness, autosomal recessive 36, with or without vestibular involvement1 test
Deafness, autosomal recessive 372 tests
Deafness, autosomal recessive 392 tests
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct6 tests
Deafness, autosomal recessive 422 tests
Deafness, autosomal recessive 441 test
Deafness, autosomal recessive 482 tests
Deafness, autosomal recessive 492 tests
Deafness, autosomal recessive 533 tests
Deafness, autosomal recessive 571 test
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 681 test
Deafness, autosomal recessive 72 tests
Deafness, autosomal recessive 702 tests
Deafness, autosomal recessive 742 tests
Deafness, autosomal recessive 761 test
Deafness, autosomal recessive 773 tests
Deafness, autosomal recessive 791 test
Deafness, autosomal recessive 82 tests
Deafness, autosomal recessive 841 test
Deafness, autosomal recessive 84b1 test
Deafness, autosomal recessive 862 tests
Deafness, autosomal recessive 881 test
Deafness, autosomal recessive 892 tests
Deafness, autosomal recessive 92 tests
Deafness, autosomal recessive 912 tests
Deafness, autosomal recessive 931 test
Deafness, autosomal recessive 941 test
Deafness, autosomal recessive 971 test
Deafness, autosomal recessive 981 test
Deafness, congenital heart defects, and posterior embryotoxon1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase3 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase7 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase9 tests
Deficiency of acetyl-CoA acetyltransferase7 tests
Deficiency of alpha-mannosidase2 tests
Deficiency of aromatic-L-amino-acid decarboxylase3 tests
Deficiency of butyryl-CoA dehydrogenase5 tests
Deficiency of butyrylcholine esterase1 test
Deficiency of cytochrome-b5 reductase1 test
Deficiency of ferroxidase5 tests
Deficiency of galactokinase5 tests
Deficiency of glycerol kinase3 tests
Deficiency of guanidinoacetate methyltransferase7 tests
Deficiency of hyaluronoglucosaminidase2 tests
Deficiency of hydroxymethylglutaryl-CoA lyase8 tests
Deficiency of iodide peroxidase2 tests
Deficiency of isobutyryl-CoA dehydrogenase1 test
Deficiency of malonyl-CoA decarboxylase8 tests
Deficiency of phosphoserine phosphatase1 test
Deficiency of steroid 11-beta-monooxygenase5 tests
Deficiency of steroid 17-alpha-monooxygenase7 tests
Deficiency of transaldolase2 tests
Dehydrated hereditary stomatocytosis 22 tests
Dejerine-Sottas disease6 tests
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency3 tests
Dent disease type 17 tests
Dent disease type 28 tests
Dental anomalies and short stature5 tests
Dentatorubral-pallidoluysian atrophy1 test
Denticles2 tests
Dentin dysplasia, type 11 test
Dentinogenesis imperfecta - Shield's type II2 tests
Dentinogenesis imperfecta - Shield's type III2 tests
Dermatitis, atopic, 21 test
Dermatopathia pigmentosa reticularis2 tests
Desanto-shinawi syndrome3 tests
Desbuquois dysplasia 14 tests
Desmoid disease, hereditary2 tests
Desmosterolosis5 tests
Developmental and epileptic encephalopathy, 563 tests
Developmental and epileptic encephalopathy, 572 tests
Developmental and epileptic encephalopathy, 583 tests
Developmental and epileptic encephalopathy, 602 tests
Developmental and epileptic encephalopathy, 632 tests
Developmental and epileptic encephalopathy, 642 tests
Developmental and epileptic encephalopathy, 652 tests
Developmental and epileptic encephalopathy, 662 tests
Developmental and epileptic encephalopathy, 672 tests
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 702 tests
Developmental and epileptic encephalopathy, 712 tests
Developmental and epileptic encephalopathy, 721 test
Developmental and epileptic encephalopathy, 731 test
Developmental and epileptic encephalopathy, 742 tests
Developmental and epileptic encephalopathy, 751 test
Developmental and epileptic encephalopathy, 762 tests
Developmental and epileptic encephalopathy, 773 tests
Developmental and epileptic encephalopathy, 801 test
Developmental and epileptic encephalopathy, 811 test
Developmental and epileptic encephalopathy, 85, with or without midline brain defects4 tests
Developmental delay1 test
Developmental delay and seizures with or without movement abnormalities2 tests
Developmental delay with or without dysmorphic facies and autism1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
Developmental delay, intellectual disability, obesity, and dysmorphic features1 test
Developmental malformations-deafness-dystonia syndrome3 tests
Di-George syndrome1 test
DiGeorge Syndrome4 tests
Diabetes mellitus type 12 tests
Diabetes mellitus, insulin-dependent, 102 tests
Diabetes mellitus, insulin-dependent, 122 tests
Diabetes mellitus, insulin-dependent, 21 test
Diabetes mellitus, insulin-dependent, 201 test
Diabetes mellitus, ketosis-prone1 test
Diabetes mellitus, neonatal, with congenital hypothyroidism3 tests
Diabetes mellitus, noninsulin-dependent, 52 tests
Diabetes mellitus, permanent neonatal, with cerebellar agenesis2 tests
Diamond-Blackfan anemia1 test
Diamond-Blackfan anemia 14 tests
Diamond-Blackfan anemia 104 tests
Diamond-Blackfan anemia 112 tests
Diamond-Blackfan anemia 124 tests
Diamond-Blackfan anemia 132 tests
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1 test
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
Diamond-Blackfan anemia 161 test
Diamond-Blackfan anemia 171 test
Diamond-Blackfan anemia 34 tests
Diamond-Blackfan anemia 44 tests
Diamond-Blackfan anemia 54 tests
Diamond-Blackfan anemia 64 tests
Diamond-Blackfan anemia 74 tests
Diamond-Blackfan anemia 84 tests
Diamond-Blackfan anemia 94 tests
Diaphanospondylodysostosis1 test
Diaphragmatic hernia 32 tests
Diaphyseal dysplasia4 tests
Diarrhea 10, protein-losing enteropathy type1 test
Diarrhea 4, malabsorptive, congenital2 tests
Diarrhea 5, with tufting enteropathy, congenital5 tests
Diarrhea 61 test
Diarrhea 71 test
Diarrhea 8, secretory sodium, congenital1 test
Diarrhea 91 test
Diastrophic dysplasia6 tests
Diencephalic-mesencephalic junction dysplasia syndrome 21 test
Diets-Jongmans syndrome1 test
Diffuse menangial sclerosis4 tests
Digital arthropathy-brachydactyly, familial1 test
Dihydropteridine reductase deficiency3 tests
Dihydropyrimidinase deficiency1 test
Dihydropyrimidine dehydrogenase deficiency3 tests
Dilated cardiomyopathy 1A10 tests
Dilated cardiomyopathy 1AA6 tests
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C6 tests
Dilated cardiomyopathy 1CC6 tests
Dilated cardiomyopathy 1DD4 tests
Dilated cardiomyopathy 1E4 tests
Dilated cardiomyopathy 1EE4 tests
Dilated cardiomyopathy 1FF3 tests
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1HH3 tests
Dilated cardiomyopathy 1I6 tests
Dilated cardiomyopathy 1II3 tests
Dilated cardiomyopathy 1J4 tests
Dilated cardiomyopathy 1JJ4 tests
Dilated cardiomyopathy 1KK6 tests
Dilated cardiomyopathy 1L4 tests
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P5 tests
Dilated cardiomyopathy 1R5 tests
Dilated cardiomyopathy 1S7 tests
Dilated cardiomyopathy 1W3 tests
Dilated cardiomyopathy 1X4 tests
Dilated cardiomyopathy 1Y5 tests
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A6 tests
Dilated cardiomyopathy 3B5 tests
Dilated cardiomyopathy with woolly hair and keratoderma5 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome8 tests
Dilution, pigmentary2 tests
Dimethylglycine dehydrogenase deficiency1 test
Disorder of fatty acid metabolism1 test
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency9 tests
Disorders of Intracellular Cobalamin Metabolism1 test
Disseminated atypical mycobacterial infection1 test
Distal arthrogryposis type 1A4 tests
Distal arthrogryposis type 1B3 tests
Distal arthrogryposis type 2B7 tests
Distal arthrogryposis type 5D4 tests
Distal hereditary motor neuronopathy 2D2 tests
Distal hereditary motor neuronopathy type 2A3 tests
Distal hereditary motor neuronopathy type 2B3 tests
Distal hereditary motor neuronopathy type 2C2 tests
Distal hereditary motor neuronopathy type 57 tests
Distal hereditary motor neuronopathy type 5B3 tests
Distal hereditary motor neuronopathy type 7B6 tests
Distal myopathy with rimmed vacuoles1 test
Distal myopathy, Tateyama type1 test
Distal spinal muscular atrophy, X-linked 35 tests
Distal spinal muscular atrophy, congenital nonprogressive2 tests
Distichiasis-lymphedema syndrome3 tests
Dizygotic twins1 test
Dominant dystrophic epidermolysis bullosa with absence of skin3 tests
Donnai-Barrow syndrome4 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency4 tests
Doughnut lesions of skull, familial1 test
Dowling-Degos disease 11 test
Doyne honeycomb retinal dystrophy4 tests
Drash syndrome6 tests
Duane retraction syndrome 22 tests
Duane retraction syndrome 3 with or without deafness2 tests
Duane-radial ray syndrome8 tests
Dubin-Johnson syndrome1 test
Duchenne muscular dystrophy3 tests
Dyggve-Melchior-Clausen syndrome1 test
Dyskeratosis congenita autosomal recessive 14 tests
Dyskeratosis congenita, X-linked8 tests
Dyskeratosis congenita, autosomal dominant 17 tests
Dyskeratosis congenita, autosomal dominant 62 tests
Dyskeratosis congenita, autosomal dominant, 28 tests
Dyskeratosis congenita, autosomal dominant, 35 tests
Dyskeratosis congenita, autosomal recessive 24 tests
Dyskeratosis congenita, autosomal recessive 65 tests
Dyskeratosis congenita, autosomal recessive, 34 tests
Dyskeratosis congenita, autosomal recessive, 56 tests
Dyskinesia, seizures, and intellectual developmental disorder4 tests
Dysmorphic features1 test
Dystonia 12 tests
Dystonia 126 tests
Dystonia 162 tests
Dystonia 242 tests
Dystonia 252 tests
Dystonia 271 test
Dystonia 56 tests
Dystonia 95 tests
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities3 tests
Dystrophic epidermolysis bullosa1 test
EAST syndrome6 tests
EDICT syndrome2 tests
EEM syndrome3 tests
ERCC1-Related Xeroderma Pigmentosum1 test
Early Infantile Epileptic Encephalopathy 61 test
Early infantile epileptic encephalopathy 105 tests
Early infantile epileptic encephalopathy 118 tests
Early infantile epileptic encephalopathy 124 tests
Early infantile epileptic encephalopathy 137 tests
Early infantile epileptic encephalopathy 144 tests
Early infantile epileptic encephalopathy 154 tests
Early infantile epileptic encephalopathy 165 tests
Early infantile epileptic encephalopathy 175 tests
Early infantile epileptic encephalopathy 184 tests
Early infantile epileptic encephalopathy 29 tests
Early infantile epileptic encephalopathy 212 tests
Early infantile epileptic encephalopathy 343 tests
Early infantile epileptic encephalopathy 49 tests
Early infantile epileptic encephalopathy 56 tests
Early infantile epileptic encephalopathy 554 tests
Early infantile epileptic encephalopathy 593 tests
Early infantile epileptic encephalopathy 611 test
Early infantile epileptic encephalopathy 625 tests
Early infantile epileptic encephalopathy 76 tests
Early infantile epileptic encephalopathy 86 tests
Early infantile epileptic encephalopathy 97 tests
Early myoclonic encephalopathy4 tests
Early-onset parkinsonism-intellectual disability syndrome6 tests
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1 test
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant3 tests
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant3 tests
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive3 tests
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis1 test
Ectodermal dysplasia 4, hair/nail type2 tests
Ectodermal dysplasia and immunodeficiency 13 tests
Ectodermal dysplasia and immunodeficiency 23 tests
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema2 tests
Ectodermal dysplasia-syndactyly syndrome 12 tests
Ectodermal dysplasia/short stature syndrome3 tests
Ectopia lentis 2, isolated, autosomal recessive1 test
Ectopia lentis et pupillae1 test
Ectopia lentis, isolated, autosomal dominant7 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 38 tests
Efavirenz response1 test
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome classic type 22 tests
Ehlers-Danlos syndrome dermatosparaxis type2 tests
Ehlers-Danlos syndrome due to tenascin-X deficiency3 tests
Ehlers-Danlos syndrome progeroid type3 tests
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss3 tests
Ehlers-Danlos syndrome, cardiac valvular type7 tests
Ehlers-Danlos syndrome, classic type9 tests
Ehlers-Danlos syndrome, classic type I1 test
Ehlers-Danlos syndrome, hydroxylysine-deficient5 tests
Ehlers-Danlos syndrome, musculocontractural type4 tests
Ehlers-Danlos syndrome, musculocontractural type 22 tests
Ehlers-Danlos syndrome, periodontal type, 22 tests
Ehlers-Danlos syndrome, procollagen proteinase deficient9 tests
Ehlers-Danlos syndrome, progeroid type, 22 tests
Ehlers-Danlos syndrome, type 32 tests
Ehlers-Danlos syndrome, type 48 tests
Ehlers-Danlos syndrome, type 82 tests
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Ehlers-danlos syndrome, classic-like, 23 tests
Eichsfeld type congenital muscular dystrophy3 tests
Eiken skeletal dysplasia1 test
Elliptocytosis 12 tests
Elliptocytosis 23 tests
Elliptocytosis 31 test
Ellis-van Creveld syndrome11 tests
Elsahy-Waters syndrome2 tests
Emery-Dreifuss muscular dystrophy 1, X-linked6 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant6 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive5 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization2 tests
Encephalocraniocutaneous lipomatosis1 test
Encephalopathy due to defective mitochondrial and peroxisomal fission 17 tests
Encephalopathy due to defective mitochondrial and peroxisomal fission 21 test
Encephalopathy, familial, with neuroserpin inclusion bodies2 tests
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 12 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 21 test
Encephalopathy, progressive, with or without lipodystrophy2 tests
Endocrine-cerebroosteodysplasia4 tests
Endometrial carcinoma6 tests
Endplate acetylcholinesterase deficiency3 tests
Enterokinase deficiency1 test
Epidermal nevus6 tests
Epidermal nevus syndrome4 tests
Epidermolysis bullosa junctionalis with pyloric atresia5 tests
Epidermolysis bullosa pruriginosa3 tests
Epidermolysis bullosa simplex Dowling-Meara type4 tests
Epidermolysis bullosa simplex due to plakophilin deficiency3 tests
Epidermolysis bullosa simplex with migratory circinate erythema3 tests
Epidermolysis bullosa simplex with mottled pigmentation3 tests
Epidermolysis bullosa simplex with muscular dystrophy4 tests
Epidermolysis bullosa simplex with nail dystrophy4 tests
Epidermolysis bullosa simplex with pyloric atresia4 tests
Epidermolysis bullosa simplex, Koebner type4 tests
Epidermolysis bullosa simplex, Ogna type4 tests
Epidermolysis bullosa simplex, autosomal recessive3 tests
Epidermolysis bullosa simplex, autosomal recessive 22 tests
Epidermolytic palmoplantar keratoderma4 tests
Epilepsy1 test
Epilepsy with grand mal seizures on awakening1 test
Epilepsy, X-linked, with variable learning disabilities and behavior disorders4 tests
Epilepsy, childhood absence 22 tests
Epilepsy, childhood absence 55 tests
Epilepsy, childhood absence 61 test
Epilepsy, early-onset, vitamin b6-dependent2 tests
Epilepsy, familial adult myoclonic, 52 tests
Epilepsy, familial focal, with variable foci 12 tests
Epilepsy, familial focal, with variable foci 23 tests
Epilepsy, familial focal, with variable foci 33 tests
Epilepsy, familial focal, with variable foci 44 tests
Epilepsy, familial temporal lobe, 52 tests
Epilepsy, familial temporal lobe, 75 tests
Epilepsy, focal, with speech disorder and with or without mental retardation4 tests
Epilepsy, hearing loss, and mental retardation syndrome3 tests
Epilepsy, idiopathic generalized 102 tests
Epilepsy, idiopathic generalized 81 test
Epilepsy, idiopathic generalized 92 tests
Epilepsy, idiopathic generalized, susceptibility to, 124 tests
Epilepsy, idiopathic generalized, susceptibility to, 143 tests
Epilepsy, idiopathic generalized, susceptibility to, 152 tests
Epilepsy, idiopathic generalized, susceptibility to, 163 tests
Epilepsy, juvenile absence, susceptibility to, 12 tests
Epilepsy, juvenile myoclonic 54 tests
Epilepsy, juvenile myoclonic, susceptibility to, 102 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 2A (Lafora)1 test
Epilepsy, progressive myoclonic 2B (Lafora)1 test
Epilepsy, progressive myoclonic 36 tests
Epilepsy, progressive myoclonic 4, with or without renal failure5 tests
Epilepsy, progressive myoclonic 63 tests
Epilepsy, progressive myoclonic 72 tests
Epilepsy, progressive myoclonic 82 tests
Epilepsy, progressive myoclonic, 92 tests
Epileptic encephalopathy, childhood-onset7 tests
Epileptic encephalopathy, early infantile, 18 tests
Epileptic encephalopathy, early infantile, 194 tests
Epileptic encephalopathy, early infantile, 233 tests
Epileptic encephalopathy, early infantile, 246 tests
Epileptic encephalopathy, early infantile, 254 tests
Epileptic encephalopathy, early infantile, 265 tests
Epileptic encephalopathy, early infantile, 278 tests
Epileptic encephalopathy, early infantile, 283 tests
Epileptic encephalopathy, early infantile, 313 tests
Epileptic encephalopathy, early infantile, 324 tests
Epileptic encephalopathy, early infantile, 333 tests
Epileptic encephalopathy, early infantile, 353 tests
Epileptic encephalopathy, early infantile, 366 tests
Epileptic encephalopathy, early infantile, 373 tests
Epileptic encephalopathy, early infantile, 382 tests
Epileptic encephalopathy, early infantile, 402 tests
Epileptic encephalopathy, early infantile, 412 tests
Epileptic encephalopathy, early infantile, 424 tests
Epileptic encephalopathy, early infantile, 435 tests
Epileptic encephalopathy, early infantile, 443 tests
Epileptic encephalopathy, early infantile, 453 tests
Epileptic encephalopathy, early infantile, 464 tests
Epileptic encephalopathy, early infantile, 473 tests
Epileptic encephalopathy, early infantile, 483 tests
Epileptic encephalopathy, early infantile, 493 tests
Epileptic encephalopathy, early infantile, 503 tests
Epileptic encephalopathy, early infantile, 514 tests
Epileptic encephalopathy, early infantile, 522 tests
Epileptic encephalopathy, early infantile, 534 tests
Epileptic encephalopathy, early infantile, 545 tests
Epileptic encephalopathy, infantile or early childhood 12 tests
Epileptic encephalopathy, infantile or early childhood 23 tests
Epileptic encephalopathy, infantile or early childhood 33 tests
Epiphyseal chondrodysplasia, miura type2 tests
Epiphyseal dysplasia, multiple, 25 tests
Epiphyseal dysplasia, multiple, 34 tests
Epiphyseal dysplasia, multiple, 74 tests
Epiphyseal dysplasia, multiple, with myopia and conductive deafness10 tests
Episodic ataxia type 14 tests
Episodic ataxia type 24 tests
Episodic ataxia type 91 test
Episodic ataxia, type 52 tests
Episodic kinesigenic dyskinesia 14 tests
Episodic pain syndrome, familial, 22 tests
Episodic pain syndrome, familial, 33 tests
Epithelial recurrent erosion dystrophy1 test
Erythrocyte lactate transporter defect1 test
Erythrocytosis, familial, 21 test
Erythroderma, ichthyosiform, congenital reticular1 test
Erythrokeratoderma, reticular1 test
Erythrokeratodermia variabilis1 test
Erythrokeratodermia variabilis et progressiva 11 test
Erythrokeratodermia variabilis et progressiva 31 test
Erythropoietic protoporphyria3 tests
Essential hypertension1 test
Ethylmalonic encephalopathy4 tests
Exercise intolerance, riboflavin-responsive1 test
Exercise-induced hyperinsulinism3 tests
Extraskeletal myxoid chondrosarcoma2 tests
Exudative vitreoretinopathy 14 tests
Exudative vitreoretinopathy 44 tests
Exudative vitreoretinopathy 53 tests
Exudative vitreoretinopathy 63 tests
Exudative vitreoretinopathy 73 tests
FG syndrome 114 tests
FG syndrome 215 tests
FG syndrome 47 tests
FRAXE1 test
Fabry disease9 tests
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs2 tests
Facioscapulohumeral muscular dystrophy 23 tests
Factor V deficiency3 tests
Factor VII deficiency3 tests
Factor X deficiency3 tests
Factor XII deficiency disease2 tests
Factor XIII subunit A deficiency3 tests
Factor XIII, b subunit, deficiency of3 tests
Factor v and factor viii, combined deficiency of, 23 tests
Failure of tooth eruption, primary1 test
Failure to thrive1 test
Familial Mediterranean fever4 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets4 tests
Familial adenomatous polyposis 16 tests
Familial adenomatous polyposis 33 tests
Familial adenomatous polyposis 42 tests
Familial amyloid nephropathy with urticaria AND deafness3 tests
Familial atrial myxoma4 tests
Familial atypical mycobacteriosis, type 1, X-linked3 tests
Familial benign pemphigus1 test
Familial cancer of breast19 tests
Familial cold autoinflammatory syndrome2 tests
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 22 tests
Familial cold autoinflammatory syndrome 31 test
Familial cold autoinflammatory syndrome 41 test
Familial dysautonomia5 tests
Familial expansile osteolysis2 tests
Familial exudative vitreoretinopathy1 test
Familial exudative vitreoretinopathy, X-linked8 tests
Familial febrile seizures 82 tests
Familial focal epilepsy with variable foci2 tests
Familial hemiplegic migraine type 16 tests
Familial hemiplegic migraine type 25 tests
Familial hemiplegic migraine type 36 tests
Familial hemophagocytic lymphohistiocytosis 23 tests
Familial hemophagocytic lymphohistiocytosis 33 tests
Familial hemophagocytic lymphohistiocytosis 42 tests
Familial hyperaldosteronism type 31 test
Familial hypercholesterolemia3 tests
Familial hypercholesterolemia 23 tests
Familial hypercholesterolemia 32 tests
Familial hypercholesterolemia 43 tests
Familial hyperinsulinism1 test
Familial hyperkalemic periodic paralysis4 tests
Familial hypertriglyceridemia2 tests
Familial hypertrophic cardiomyopathy 17 tests
Familial hypertrophic cardiomyopathy 105 tests
Familial hypertrophic cardiomyopathy 113 tests
Familial hypertrophic cardiomyopathy 126 tests
Familial hypertrophic cardiomyopathy 136 tests
Familial hypertrophic cardiomyopathy 147 tests
Familial hypertrophic cardiomyopathy 154 tests
Familial hypertrophic cardiomyopathy 163 tests
Familial hypertrophic cardiomyopathy 174 tests
Familial hypertrophic cardiomyopathy 187 tests
Familial hypertrophic cardiomyopathy 192 tests
Familial hypertrophic cardiomyopathy 25 tests
Familial hypertrophic cardiomyopathy 205 tests
Familial hypertrophic cardiomyopathy 33 tests
Familial hypertrophic cardiomyopathy 45 tests
Familial hypertrophic cardiomyopathy 65 tests
Familial hypertrophic cardiomyopathy 77 tests
Familial hypertrophic cardiomyopathy 85 tests
Familial hypertrophic cardiomyopathy 93 tests
Familial hypoalphalipoproteinemia1 test
Familial hypocalciuric hypercalcemia2 tests
Familial hypokalemia-hypomagnesemia2 tests
Familial idiopathic hypercalciuria2 tests
Familial infantile myasthenia3 tests
Familial isolated deficiency of vitamin E1 test
Familial isolated hypoparathyroidism3 tests
Familial juvenile gout2 tests
Familial mediterranean fever, autosomal dominant4 tests
Familial medullary thyroid carcinoma3 tests
Familial multiple polyposis syndrome1 test
Familial partial lipodystrophy 24 tests
Familial partial lipodystrophy 34 tests
Familial partial lipodystrophy 42 tests
Familial partial lipodystrophy 52 tests
Familial partial lipodystrophy 63 tests
Familial platelet disorder with associated myeloid malignancy9 tests
Familial porphyria cutanea tarda3 tests
Familial progressive hyperpigmentation with or without hypopigmentation3 tests
Familial renal hypouricemia1 test
Familial restrictive cardiomyopathy 13 tests
Familial restrictive cardiomyopathy 32 tests
Familial temporal lobe epilepsy 13 tests
Familial thoracic aortic aneurysm and aortic dissection1 test
Familial type 3 hyperlipoproteinemia1 test
Familial type 5 hyperlipoproteinemia2 tests
Familial visceral amyloidosis, Ostertag type1 test
Fanconi anemia1 test
Fanconi anemia, complementation group A5 tests
Fanconi anemia, complementation group B5 tests
Fanconi anemia, complementation group C7 tests
Fanconi anemia, complementation group D16 tests
Fanconi anemia, complementation group D25 tests
Fanconi anemia, complementation group E5 tests
Fanconi anemia, complementation group F5 tests
Fanconi anemia, complementation group G5 tests
Fanconi anemia, complementation group I5 tests
Fanconi anemia, complementation group J8 tests
Fanconi anemia, complementation group L5 tests
Fanconi anemia, complementation group M2 tests
Fanconi anemia, complementation group N9 tests
Fanconi anemia, complementation group O6 tests
Fanconi anemia, complementation group P5 tests
Fanconi anemia, complementation group Q5 tests
Fanconi anemia, complementation group R3 tests
Fanconi anemia, complementation group S2 tests
Fanconi anemia, complementation group T3 tests
Fanconi anemia, complementation group U5 tests
Fanconi anemia, complementation group V3 tests
Fanconi anemia, complementation group W4 tests
Fanconi renotubular syndrome 12 tests
Fanconi renotubular syndrome 23 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
Fanconi renotubular syndrome 51 test
Fanconi-Bickel syndrome10 tests
Farber disease4 tests
Fasting plasma glucose level quantitative trait locus 51 test
Fatal infantile hypertonic myofibrillar myopathy1 test
Febrile seizures, familial, 112 tests
Febrile seizures, familial, 41 test
Feeding difficulties1 test
Feingold syndrome1 test
Feingold syndrome 15 tests
Feingold syndrome 24 tests
Fetal akinesia deformation sequence 21 test
Fetal akinesia deformation sequence 31 test
Fetal akinesia deformation sequence 41 test
Fetal hemoglobin quantitative trait locus 63 tests
Fibrochondrogenesis2 tests
Fibrochondrogenesis 13 tests
Fibrochondrogenesis 25 tests
Fibromatosis, gingival, 52 tests
Fibrosis of extraocular muscles, congenital, 11 test
Fibrosis of extraocular muscles, congenital, 22 tests
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement2 tests
Fibrous dysplasia of jaw1 test
Fibular hypoplasia and complex brachydactyly4 tests
Filippi syndrome2 tests
Finnish congenital nephrotic syndrome2 tests
Fish-eye disease2 tests
Fleck corneal dystrophy2 tests
Fleck retina, familial benign5 tests
Floating-Harbor syndrome6 tests
Focal cortical dysplasia type II4 tests
Focal dermal hypoplasia6 tests
Focal facial dermal dysplasia 3, Setleis type1 test
Focal segmental glomerulosclerosis1 test
Focal segmental glomerulosclerosis 12 tests
Focal segmental glomerulosclerosis 22 tests
Focal segmental glomerulosclerosis 3, susceptibility to2 tests
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 73 tests
Focal segmental glomerulosclerosis 82 tests
Focal segmental glomerulosclerosis 91 test
Fontaine progeroid syndrome2 tests
Foveal hypoplasia 23 tests
Foveal hypoplasia and presenile cataract syndrome8 tests
Fragile X syndrome4 tests
Fragile X tremor/ataxia syndrome3 tests
Frank-Ter Haar syndrome4 tests
Fraser syndrome 16 tests
Fraser syndrome 210 tests
Fraser syndrome 38 tests
Frasier syndrome6 tests
Freeman-Sheldon syndrome5 tests
Frontometaphyseal dysplasia1 test
Frontometaphyseal dysplasia 19 tests
Frontonasal dysplasia 13 tests
Frontonasal dysplasia 22 tests
Frontonasal dysplasia 31 test
Frontotemporal dementia6 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 25 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 36 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 44 tests
Frontotemporal dementia, chromosome 3-linked4 tests
Fructose-biphosphatase deficiency4 tests
Fucosidosis4 tests
Fuhrmann syndrome2 tests
Fukuyama congenital muscular dystrophy9 tests
Fumarase deficiency7 tests
GAPO syndrome1 test
GATA-1-related thrombocytopenia with dyserythropoiesis3 tests
GLUT1 deficiency syndrome 16 tests
GLUT1 deficiency syndrome 25 tests
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY1 test
GM1 gangliosidosis type 24 tests
GM1 gangliosidosis type 33 tests
GNE myopathy5 tests
GRACILE syndrome5 tests
GTP cyclohydrolase I deficiency1 test
Galactosylceramide beta-galactosidase deficiency7 tests
Galloway-Mowat syndrome 14 tests
Galloway-Mowat syndrome 2, X-linked4 tests
Galloway-Mowat syndrome 35 tests
Galloway-Mowat syndrome 43 tests
Galloway-Mowat syndrome 53 tests
Galloway-Mowat syndrome 62 tests
Galloway-Mowat syndrome 72 tests
Galloway-Mowat syndrome 82 tests
Gamma-aminobutyric acid transaminase deficiency2 tests
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to1 test
Gastric lymphoma1 test
Gastrointestinal stromal tumor4 tests
Gaucher disease type 3C3 tests
Gaucher disease, atypical, due to saposin C deficiency1 test
Gaucher disease, perinatal lethal3 tests
Gaucher's disease, type 13 tests
Gaze palsy, familial horizontal, with progressive scoliosis 12 tests
Geleophysic dysplasia 13 tests
Geleophysic dysplasia 28 tests
Geleophysic dysplasia 32 tests
Generalized arterial calcification of infancy3 tests
Generalized arterial calcification of infancy 24 tests
Generalized dominant dystrophic epidermolysis bullosa3 tests
Generalized epilepsy with febrile seizures plus, type 14 tests
Generalized epilepsy with febrile seizures plus, type 103 tests
Generalized epilepsy with febrile seizures plus, type 27 tests
Generalized epilepsy with febrile seizures plus, type 74 tests
Generalized epilepsy with febrile seizures plus, type 94 tests
Generalized juvenile polyposis/juvenile polyposis coli6 tests
Generalized neonatal hypotonia1 test
Genitopatellar syndrome4 tests
Genitourinary and/or brain malformation syndrome1 test
Geroderma osteodysplastica3 tests
Giant axonal neuropathy 14 tests
Gilbert's syndrome1 test
Gillespie syndrome1 test
Gillessen-Kaesbach-Nishimura syndrome2 tests
Gingival fibromatosis 12 tests
Glanzmann thrombasthenia7 tests
Glaucoma1 test
Glaucoma 1, open angle, A3 tests
Glaucoma 1, open angle, G2 tests
Glaucoma 1, open angle, O1 test
Glaucoma 3, primary congenital, A4 tests
Glaucoma 3, primary congenital, E1 test
Glaucoma 3, primary congenital, d5 tests
Glaucoma, normal tension, susceptibility to5 tests
Glioma susceptibility 14 tests
Glioma susceptibility 24 tests
Glioma susceptibility 33 tests
Glioma susceptibility 94 tests
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1 test
Global developmental delay, progressive ataxia, and elevated glutamine2 tests
Globozoospermia4 tests
Glomerulopathy with fibronectin deposits 21 test
Glucocorticoid deficiency 21 test
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency2 tests
Glucocorticoid deficiency 51 test
Glucocorticoid deficiency with achalasia1 test
Glucocorticoid resistance, generalized3 tests
Glucose-6-phosphate transport defect7 tests
Glutaric aciduria, type 15 tests
Glutathione peroxidase deficiency1 test
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to3 tests
Gluthathione synthetase deficiency3 tests
Glycine N-methyltransferase deficiency3 tests
Glycine encephalopathy with normal serum glycine2 tests
Glycogen storage disease 0, muscle2 tests
Glycogen storage disease IXb4 tests
Glycogen storage disease IXc4 tests
Glycogen storage disease IXd3 tests
Glycogen storage disease XI2 tests
Glycogen storage disease XV3 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
Glycogen storage disease due to hepatic glycogen synthase deficiency4 tests
Glycogen storage disease due to muscle beta-enolase deficiency2 tests
Glycogen storage disease of heart, lethal congenital5 tests
Glycogen storage disease type III6 tests
Glycogen storage disease type IXa14 tests
Glycogen storage disease type X3 tests
Glycogen storage disease, type II11 tests
Glycogen storage disease, type IV7 tests
Glycogen storage disease, type V4 tests
Glycogen storage disease, type VI4 tests
Glycogen storage disease, type VII5 tests
Glycosylphosphatidylinositol biosynthesis defect 153 tests
Glycosylphosphatidylinositol biosynthesis defect 161 test
Glycosylphosphatidylinositol biosynthesis defect 171 test
Glycosylphosphatidylinositol biosynthesis defect 181 test
Glycosylphosphatidylinositol biosynthesis defect 211 test
Gnathodiaphyseal dysplasia1 test
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors5 tests
Goldberg-Shprintzen megacolon syndrome3 tests
Goldblatt hypertension1 test
Gonadotropin-independent familial sexual precocity5 tests
Gordon Holmes syndrome2 tests
Gordon's syndrome2 tests
Gorlin syndrome7 tests
Graft-versus-host disease, susceptibility to1 test
Grange syndrome2 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III3 tests
Gray platelet syndrome3 tests
Grebe syndrome4 tests
Greenberg dysplasia3 tests
Greig cephalopolysyndactyly syndrome9 tests
Griscelli syndrome type 14 tests
Griscelli syndrome type 26 tests
Griscelli syndrome type 32 tests
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions6 tests
Groenouw corneal dystrophy type I2 tests
Growth delay due to insulin-like growth factor I resistance2 tests
Growth restriction, severe, with distinctive facies1 test
Growth retardation, developmental delay, coarse facies, and early death1 test
Guttmacher syndrome8 tests
H3-3B syndrome1 test
HNSHA due to aldolase A deficiency3 tests
HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS1 test
HSD10 disease5 tests
Haim-Munk syndrome1 test
Hajdu-Cheney syndrome5 tests
Hamartoma of hypothalamus5 tests
Hand-foot-genital syndrome5 tests
Hartsfield syndrome7 tests
Hashimoto thyroiditis2 tests
Hawkinsinuria2 tests
Hay-Wells syndrome of ectodermal dysplasia7 tests
Hb SS disease1 test
Heart, malformation of1 test
Heart-hand syndrome, Slovenian type3 tests
Hecht syndrome3 tests
Heimler syndrome 26 tests
Heinz body anemia1 test
Helicobacter pylori infection, susceptibility to1 test
Helsmoortel-Van der Aa Syndrome5 tests
Hemangioma, capillary infantile1 test
Hematologic neoplasm1 test
Hemochromatosis type 16 tests
Hemochromatosis type 2A2 tests
Hemochromatosis type 2B2 tests
Hemochromatosis type 32 tests
Hemochromatosis type 42 tests
Hemochromatosis type 51 test
Hemoglobin H disease3 tests
Hemolytic anemia due to glutathione reductase deficiency1 test
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency2 tests
Hemophagocytic lymphohistiocytosis, familial, 53 tests
Hemorrhage, intracerebral, susceptibility to1 test
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts4 tests
Hennekam lymphangiectasia-lymphedema syndrome2 tests
Hennekam lymphangiectasia-lymphedema syndrome 14 tests
Hennekam lymphangiectasia-lymphedema syndrome 23 tests
Hennekam lymphangiectasia-lymphedema syndrome 31 test
Hepatic adenomas, familial1 test
Hepatic methionine adenosyltransferase deficiency3 tests
Hepatitis b virus, susceptibility to2 tests
Hepatocellular carcinoma3 tests
Hepatomegaly1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary angioedema type 12 tests
Hereditary breast and ovarian cancer syndrome2 tests
Hereditary cancer-predisposing syndrome1 test
Hereditary congenital facial paresis 31 test
Hereditary coproporphyria4 tests
Hereditary cryohydrocytosis with normal stomatin1 test
Hereditary diffuse gastric cancer7 tests
Hereditary diffuse leukoencephalopathy with spheroids6 tests
Hereditary disease4 tests
Hereditary factor I deficiency disease2 tests
Hereditary factor IX deficiency disease3 tests
Hereditary factor VIII deficiency disease3 tests
Hereditary factor XI deficiency disease3 tests
Hereditary fructosuria4 tests
Hereditary hearing loss and deafness3 tests
Hereditary hemochromatosis1 test
Hereditary hemorrhagic telangiectasia2 tests
Hereditary hemorrhagic telangiectasia type 11 test
Hereditary hyperferritinemia with congenital cataracts3 tests
Hereditary insensitivity to pain with anhidrosis3 tests
Hereditary leiomyomatosis and renal cell cancer6 tests
Hereditary liability to pressure palsies1 test
Hereditary lymphedema type I3 tests
Hereditary mixed polyposis syndrome 23 tests
Hereditary motor and sensory neuropathy with optic atrophy7 tests
Hereditary motor and sensory neuropathy, Okinawa type2 tests
Hereditary nephrotic syndrome2 tests
Hereditary neutrophilia2 tests
Hereditary nonpolyposis colorectal cancer type 411 tests
Hereditary nonpolyposis colorectal cancer type 513 tests
Hereditary nonpolyposis colorectal cancer type 73 tests
Hereditary nonpolyposis colorectal cancer type 813 tests
Hereditary pancreatitis8 tests
Hereditary pyropoikilocytosis2 tests
Hereditary sensory and autonomic neuropathy type 13 tests
Hereditary sensory and autonomic neuropathy type IC2 tests
Hereditary sensory and autonomic neuropathy type IIA2 tests
Hereditary sensory and autonomic neuropathy type IIB2 tests
Hereditary sensory and autonomic neuropathy type IIC4 tests
Hereditary sensory neuropathy type 1D2 tests
Hereditary sensory neuropathy type IE3 tests
Hereditary sensory neuropathy type IF2 tests
Hereditary sideroblastic anemia1 test
Hereditary spastic paraplegia 1010 tests
Hereditary spastic paraplegia 123 tests
Hereditary spastic paraplegia 134 tests
Hereditary spastic paraplegia 155 tests
Hereditary spastic paraplegia 183 tests
Hereditary spastic paraplegia 26 tests
Hereditary spastic paraplegia 232 tests
Hereditary spastic paraplegia 263 tests
Hereditary spastic paraplegia 393 tests
Hereditary spastic paraplegia 3A4 tests
Hereditary spastic paraplegia 5A6 tests
Hereditary spastic paraplegia 64 tests
Hereditary spastic paraplegia 79 tests
Hereditary spastic paraplegia 85 tests
Hereditary spastic paraplegia 9A5 tests
Hereditary xanthinuria type 12 tests
Hermansky-Pudlak syndrome 18 tests
Hermansky-Pudlak syndrome 104 tests
Hermansky-Pudlak syndrome 29 tests
Hermansky-Pudlak syndrome 38 tests
Hermansky-Pudlak syndrome 48 tests
Hermansky-Pudlak syndrome 57 tests
Hermansky-Pudlak syndrome 68 tests
Hermansky-Pudlak syndrome 77 tests
Hermansky-Pudlak syndrome 87 tests
Hermansky-Pudlak syndrome 96 tests
Heterotaxia1 test
Heterotaxy, visceral, 1, X-linked6 tests
Heterotaxy, visceral, 2, autosomal2 tests
Heterotaxy, visceral, 4, autosomal3 tests
Heterotaxy, visceral, 6, autosomal2 tests
Heterotaxy, visceral, 7, autosomal2 tests
Heterotaxy, visceral, 8, autosomal2 tests
Heterotopia, periventricular, autosomal recessive4 tests
Heyn-Sproul-Jackson syndrome2 tests
Hidrotic ectodermal dysplasia syndrome3 tests
Hirschsprung disease2 tests
Hirschsprung disease 14 tests
Hirschsprung disease 25 tests
Hirschsprung disease 32 tests
Hirschsprung disease 46 tests
Hirschsprung disease, cardiac defects, and autonomic dysfunction2 tests
Histiocytic medullary reticulosis7 tests
Histiocytosis-lymphadenopathy plus syndrome2 tests
Holocarboxylase synthetase deficiency4 tests
Holoprosencephaly 114 tests
Holoprosencephaly 24 tests
Holoprosencephaly 38 tests
Holoprosencephaly 44 tests
Holoprosencephaly 53 tests
Holoprosencephaly 78 tests
Holoprosencephaly 98 tests
Holoprosencephaly sequence3 tests
Holt-Oram syndrome6 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency7 tests
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type4 tests
Hoyeraal-Hreidarsson syndrome2 tests
Human HOXA1 syndromes3 tests
Human immunodeficiency virus type 1, susceptibility to1 test
Humerofemoral hypoplasia with radiotibial ray deficiency1 test
Huntington disease1 test
Hurler syndrome3 tests
Hurthle cell carcinoma of thyroid1 test
Hutchinson-Gilford syndrome4 tests
Hyaline fibromatosis syndrome2 tests
Hydranencephaly with renal aplasia-dysplasia3 tests
Hydrocephalus, congenital communicating, 11 test
Hydrocephalus, congenital, 2, with or without brain or eye anomalies3 tests
Hydrocephalus, congenital, 3, with brain anomalies1 test
Hydrolethalus syndrome 27 tests
Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to2 tests
Hydrops, lactic acidosis, and sideroblastic anemia2 tests
Hyper-IgE recurrent infection syndrome 1, autosomal dominant7 tests
Hyper-IgM syndrome type 14 tests
Hyper-IgM syndrome type 24 tests
Hyper-IgM syndrome type 32 tests
Hyper-IgM syndrome type 52 tests
Hyperaldosteronism, familial, type II2 tests
Hyperaldosteronism, familial, type IV4 tests
Hyperalphalipoproteinemia 11 test
Hyperammonemia2 tests
Hyperammonemia, type III3 tests
Hypercalcemia, infantile, 11 test
Hypercalcemia, infantile, 21 test
Hypercarotenemia and vitamin a deficiency, autosomal dominant3 tests
Hypercholanemia, familial2 tests
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency1 test
Hyperekplexia 12 tests
Hyperimmunoglobulin D with periodic fever6 tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3 tests
Hyperinsulinemic hypoglycemia familial 52 tests
Hyperinsulinemic hypoglycemia, familial, 16 tests
Hyperinsulinemic hypoglycemia, familial, 46 tests
Hyperinsulinism due to glucokinase deficiency4 tests
Hyperinsulinism-hyperammonemia syndrome6 tests
Hyperlipidemia, familial combined, LPL related2 tests
Hyperlipoproteinemia, type I3 tests
Hyperlipoproteinemia, type ID2 tests
Hypermanganesemia with dystonia 11 test
Hypermanganesemia with dystonia 21 test
Hypermethioninemia due to adenosine kinase deficiency3 tests
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency4 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome3 tests
Hyperparathyroidism 13 tests
Hyperparathyroidism 23 tests
Hyperphenylalaninemia, BH4-deficient, D4 tests
Hyperphenylalaninemia, mild, non-bh4-deficient3 tests
Hyperphosphatasemia tarda1 test
Hyperphosphatasemia with bone disease2 tests
Hyperphosphatasia with mental retardation syndrome 14 tests
Hyperphosphatasia with mental retardation syndrome 25 tests
Hyperphosphatasia with mental retardation syndrome 31 test
Hyperphosphatasia with mental retardation syndrome 41 test
Hyperphosphatasia with mental retardation syndrome 52 tests
Hyperphosphatasia with mental retardation syndrome 62 tests
Hyperphosphatemic familial tumoral calcinosis 12 tests
Hyperphosphatemic familial tumoral calcinosis 31 test
Hyperproinsulinemia1 test
Hyperprolactinemia2 tests
Hypertelorism, Teebi type2 tests
Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy1 test
Hyperthyroidism, familial gestational2 tests
Hyperthyroidism, nonautoimmune2 tests
Hypertrichotic osteochondrodysplasia Cantu type3 tests
Hypertriglyceridemia, transient infantile1 test
Hypertrophic cardiomyopathy 255 tests
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis3 tests
Hyperuricemic nephropathy, familial juvenile, 41 test
Hypobetalipoproteinemia, familial, 12 tests
Hypobetalipoproteinemia, familial, 21 test
Hypobetalipoproteinemia, normotriglyceridemic1 test
Hypocalcemia, autosomal dominant 16 tests
Hypocalcemia, autosomal dominant 22 tests
Hypocalciuric hypercalcemia, familial, type 12 tests
Hypocalciuric hypercalcemia, familial, type II2 tests
Hypocalciuric hypercalcemia, familial, type III3 tests
Hypochondroplasia10 tests
Hypoglycemia, neonatal, simulating foetopathia diabetica5 tests
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities5 tests
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)10 tests
Hypogonadotropic hypogonadism 10 with or without anosmia6 tests
Hypogonadotropic hypogonadism 11 with or without anosmia7 tests
Hypogonadotropic hypogonadism 12 with or without anosmia6 tests
Hypogonadotropic hypogonadism 13 with or without anosmia6 tests
Hypogonadotropic hypogonadism 14 with or without anosmia8 tests
Hypogonadotropic hypogonadism 15 with or without anosmia6 tests
Hypogonadotropic hypogonadism 16 with or without anosmia7 tests
Hypogonadotropic hypogonadism 17 with or without anosmia5 tests
Hypogonadotropic hypogonadism 18 with or without anosmia8 tests
Hypogonadotropic hypogonadism 19 with or without anosmia4 tests
Hypogonadotropic hypogonadism 2 with or without anosmia13 tests
Hypogonadotropic hypogonadism 20 with or without anosmia5 tests
Hypogonadotropic hypogonadism 21 with or without anosmia4 tests
Hypogonadotropic hypogonadism 22 with or without anosmia7 tests
Hypogonadotropic hypogonadism 24 without anosmia6 tests
Hypogonadotropic hypogonadism 4 with or without anosmia7 tests
Hypogonadotropic hypogonadism 5 with or without anosmia16 tests
Hypogonadotropic hypogonadism 6 with or without anosmia13 tests
Hypogonadotropic hypogonadism 7 with or without anosmia9 tests
Hypogonadotropic hypogonadism 8 with or without anosmia7 tests
Hypogonadotropic hypogonadism 9 with or without anosmia7 tests
Hypohidrotic X-linked ectodermal dysplasia3 tests
Hypokalemic periodic paralysis 12 tests
Hypokalemic periodic paralysis, type 23 tests
Hypomagnesemia 1, intestinal1 test
Hypomagnesemia 4, renal1 test
Hypomagnesemia 5, renal, with ocular involvement4 tests
Hypomagnesemia 6, renal1 test
Hypomagnesemia, seizures, and mental retardation 21 test
Hypomyelinating leukodystrophy 32 tests
Hypomyelinating leukodystrophy 72 tests
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism2 tests
Hypomyelination and Congenital Cataract3 tests
Hypomyelination with brainstem and spinal cord involvement and leg spasticity3 tests
Hypomyelination, global cerebral4 tests
Hypoparathyroidism - X-linked1 test
Hypoparathyroidism-deafness-renal disease syndrome4 tests
Hypoparathyroidism-retardation-dysmorphism syndrome3 tests
Hypophosphatemic rickets, X-linked recessive4 tests
Hypophosphatemic rickets, autosomal recessive, 22 tests
Hypoplastic enamel-onycholysis-hypohidrosis syndrome4 tests
Hypoplastic left heart syndrome 12 tests
Hypoplastic left heart syndrome 23 tests
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hyposegmentation of neutrophil nuclei1 test
Hypospadias 1, X-linked2 tests
Hypospadias 2, X-linked5 tests
Hypospadias 3, autosomal3 tests
Hypothalamic hypothyroidism2 tests
Hypothyroidism, central, and testicular enlargement2 tests
Hypothyroidism, congenital, nongoitrous, 12 tests
Hypothyroidism, congenital, nongoitrous, 22 tests
Hypothyroidism, congenital, nongoitrous, 52 tests
Hypothyroidism, congenital, nongoitrous, 62 tests
Hypotonia, ataxia, and delayed development syndrome2 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 14 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 25 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 33 tests
Hypotonia-cystinuria syndrome1 test
Hypotrichosis-lymphedema-telangiectasia syndrome3 tests
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
Hystrix-like ichthyosis with deafness2 tests
I blood group system1 test
IFAP syndrome with or without BRESHECK syndrome6 tests
IVIC syndrome5 tests
Ichthyosis bullosa of Siemens3 tests
Ichthyosis hystrix of Curth-Macklin3 tests
Ichthyosis prematurity syndrome2 tests
Ichthyosis vulgaris1 test
Ichthyosis, congenital, autosomal recessive 112 tests
Ichthyosis, cyclic, with epidermolytic hyperkeratosis4 tests
Idiopathic Pulmonary Fibrosis3 tests
Idiopathic basal ganglia calcification 12 tests
Idiopathic basal ganglia calcification 52 tests
Idiopathic hypereosinophilic syndrome1 test
Idiopathic livedo reticularis with systemic involvement1 test
Idiopathic nephrotic syndrome2 tests
Imagawa-Matsumoto syndrome1 test
Imerslund-Gräsbeck syndrome2 tests
Immunodeficiency 111 test
Immunodeficiency 11b with atopic dermatitis1 test
Immunodeficiency 121 test
Immunodeficiency 133 tests
Immunodeficiency 146 tests
Immunodeficiency 171 test
Immunodeficiency 181 test
Immunodeficiency 191 test
Immunodeficiency 231 test
Immunodeficiency 26 with or without neurologic abnormalities1 test
Immunodeficiency 27b1 test
Immunodeficiency 281 test
Immunodeficiency 291 test
Immunodeficiency 302 tests
Immunodeficiency 31C3 tests
Immunodeficiency 31a3 tests
Immunodeficiency 32a1 test
Immunodeficiency 32b1 test
Immunodeficiency 364 tests
Immunodeficiency 371 test
Immunodeficiency 38 with basal ganglia calcification1 test
Immunodeficiency 421 test
Immunodeficiency 475 tests
Immunodeficiency 521 test
Immunodeficiency 81 test
Immunodeficiency due to defect in cd3-zeta1 test
Immunodeficiency due to defect in mapbp-interacting protein1 test
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency2 tests
Immunodeficiency without anhidrotic ectodermal dysplasia2 tests
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia3 tests
Immunodeficiency, common variable, 122 tests
Immunodeficiency, common variable, 133 tests
Immunodeficiency, common variable, 142 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
Immunoglobulin A deficiency 22 tests
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia4 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 13 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 23 tests
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 33 tests
Incontinentia pigmenti syndrome4 tests
Indifference to pain, congenital, autosomal recessive5 tests
Infantile GM1 gangliosidosis6 tests
Infantile Refsum's disease5 tests
Infantile cerebellar-retinal degeneration4 tests
Infantile convulsions and choreoathetosis5 tests
Infantile cortical hyperostosis7 tests
Infantile dystonia-parkinsonism2 tests
Infantile hypophosphatasia6 tests
Infantile liver failure syndrome 12 tests
Infantile liver failure syndrome 25 tests
Infantile myofibromatosis2 tests
Infantile myofibromatosis 21 test
Infantile nephronophthisis6 tests
Infantile neuroaxonal dystrophy3 tests
Infantile nystagmus, X-linked2 tests
Infantile onset spinocerebellar ataxia7 tests
Infantile-onset ascending hereditary spastic paralysis3 tests
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations1 test
Infertility associated with multi-tailed spermatozoa and excessive DNA3 tests
Infertility due to oligospermia1 test
Inflammatory bowel disease 11 test
Inflammatory bowel disease 131 test
Inflammatory bowel disease 25, autosomal recessive1 test
Inflammatory bowel disease 28, autosomal recessive1 test
Inflammatory bowel disease, immunodeficiency, and encephalopathy1 test
Inflammatory skin and bowel disease, neonatal 11 test
Inflammatory skin and bowel disease, neonatal, 21 test
Inosine triphosphatase deficiency1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome4 tests
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual developmental disorder 60 with seizures1 test
Intellectual developmental disorder 611 test
Intellectual developmental disorder 621 test
Intellectual developmental disorder with autistic features and language delay, with or without seizures1 test
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1 test
Intellectual developmental disorder with cardiac defects and dysmorphic facies1 test
Intellectual developmental disorder with dysmorphic facies and ptosis1 test
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1 test
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies1 test
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies2 tests
Intellectual developmental disorder with persistence of fetal hemoglobin4 tests
Intellectual developmental disorder with seizures and language delay1 test
Intellectual developmental disorder with severe speech and ambulation defects2 tests
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
Intellectual developmental disorder, X-linked 1081 test
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1 test
Intellectual developmental disorder, autosomal recessive 671 test
Intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type1 test
Intellectual disability2 tests
Intellectual disability, X-linked 1061 test
Intellectual disability, X-linked 212 tests
Intellectual disability, X-linked, syndromic, Houge type2 tests
Intellectual disability, autosomal dominant 452 tests
Intellectual disability, autosomal dominant 461 test
Intellectual disability, autosomal dominant 471 test
Intellectual disability, autosomal dominant 503 tests
Intellectual disability, autosomal dominant 513 tests
Intellectual disability, autosomal dominant 524 tests
Intellectual disability, autosomal dominant 541 test
Intellectual disability, autosomal dominant 55, with seizures2 tests
Intellectual disability, autosomal dominant 562 tests
Intellectual disability, autosomal dominant 94 tests
Intellectual disability, autosomal recessive 651 test
Intellectual disability, x-linked 1071 test
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome6 tests
Intellectual disability-developmental delay-contractures syndrome3 tests
Interleukin 2 receptor, alpha, deficiency of3 tests
Interstitial lung and liver disease1 test
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital5 tests
Interstitial nephritis, karyomegalic1 test
Intervertebral disc disorder3 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked8 tests
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies6 tests
Intrinsic factor deficiency1 test
Iodotyrosine deiodination defect2 tests
Iodotyrosyl coupling defect2 tests
Irido-corneo-trabecular dysgenesis7 tests
Islet cell adenomatosis2 tests
Islet cell hyperplasia5 tests
Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
Isolated lutropin deficiency4 tests
Isolated sulfite oxidase deficiency3 tests
Isovaleryl-CoA dehydrogenase deficiency4 tests
Jaberi-Elahi syndrome1 test
Jackson-Weiss syndrome10 tests
Jarcho-Levin syndrome2 tests
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 13 tests
Jervell and Lange-Nielsen syndrome 24 tests
Johanson-Blizzard syndrome7 tests
Joint laxity, short stature, and myopia1 test
Joubert syndrome3 tests
Joubert syndrome 14 tests
Joubert syndrome 109 tests
Joubert syndrome 12/15, digenic2 tests
Joubert syndrome 136 tests
Joubert syndrome 146 tests
Joubert syndrome 158 tests
Joubert syndrome 167 tests
Joubert syndrome 177 tests
Joubert syndrome 187 tests
Joubert syndrome 192 tests
Joubert syndrome 27 tests
Joubert syndrome 205 tests
Joubert syndrome 216 tests
Joubert syndrome 226 tests
Joubert syndrome 237 tests
Joubert syndrome 244 tests
Joubert syndrome 255 tests
Joubert syndrome 262 tests
Joubert syndrome 274 tests
Joubert syndrome 284 tests
Joubert syndrome 37 tests
Joubert syndrome 305 tests
Joubert syndrome 315 tests
Joubert syndrome 324 tests
Joubert syndrome 333 tests
Joubert syndrome 351 test
Joubert syndrome 47 tests
Joubert syndrome 59 tests
Joubert syndrome 67 tests
Joubert syndrome 710 tests
Joubert syndrome 87 tests
Joubert syndrome 910 tests
Joubert syndrome with hepatic defect7 tests
Junctional epidermolysis bullosa gravis of Herlitz6 tests
Junctional epidermolysis bullosa, non-Herlitz type8 tests
Juvenile myelomonocytic leukemia5 tests
Juvenile myoclonic epilepsy2 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Juvenile nephropathic cystinosis3 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome7 tests
Juvenile primary lateral sclerosis1 test
Juvenile retinoschisis5 tests
KBG syndrome11 tests
Kabuki syndrome2 tests
Kabuki syndrome 113 tests
Kabuki syndrome 212 tests
Kahrizi syndrome3 tests
Kallmann syndrome 38 tests
Kartagener syndrome7 tests
Kearns Sayre syndrome1 test
Kennedy disease1 test
Kenny-Caffey syndrome type 24 tests
Keppen-Lubinsky syndrome2 tests
Keratitis fugax hereditaria1 test
Keratitis, hereditary3 tests
Keratitis-ichthyosis-deafness syndrome, autosomal dominant3 tests
Keratoconus 14 tests
Keratosis follicularis spinulosa decalvans, X-linked1 test
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma3 tests
Keratosis palmoplantaris striata 31 test
Keratosis palmoplantaris striata II2 tests
Keutel syndrome1 test
Kindler's syndrome3 tests
Kleefstra syndrome 17 tests
Kleefstra syndrome 21 test
Klein-Waardenberg's syndrome7 tests
Klippel-Feil syndrome 1, autosomal dominant3 tests
Klippel-Feil syndrome 2, autosomal recessive2 tests
Klippel-Feil syndrome 3, autosomal dominant3 tests
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism3 tests
Kniest dysplasia12 tests
Knobloch syndrome 17 tests
Knuckle pads, deafness AND leukonychia syndrome3 tests
Kohlschutter's syndrome5 tests
Koolen-de Vries syndrome4 tests
Kosaki overgrowth syndrome2 tests
Kostmann syndrome3 tests
Krabbe disease, atypical, due to saposin A deficiency3 tests
Kufor-Rakeb syndrome6 tests
Kugelberg-Welander disease1 test
L-2-hydroxyglutaric aciduria5 tests
LEOPARD syndrome 112 tests
LEOPARD syndrome 26 tests
LEOPARD syndrome 37 tests
Lactic acidosis2 tests
Lafora disease4 tests
Lamb-shaffer syndrome1 test
Langer mesomelic dysplasia syndrome1 test
Large congenital melanocytic nevus4 tests
Laron-type isolated somatotropin defect1 test
Larsen syndrome3 tests
Laryngo-onycho-cutaneous syndrome2 tests
Late-onset retinal degeneration4 tests
Lateral meningocele syndrome1 test
Lathosterolosis1 test
Lattice corneal dystrophy Type I2 tests
Lattice corneal dystrophy Type III2 tests
Laurin-Sandrow syndrome3 tests
Leber congenital amaurosis 15 tests
Leber congenital amaurosis 107 tests
Leber congenital amaurosis 113 tests
Leber congenital amaurosis 125 tests
Leber congenital amaurosis 137 tests
Leber congenital amaurosis 147 tests
Leber congenital amaurosis 153 tests
Leber congenital amaurosis 163 tests
Leber congenital amaurosis 172 tests
Leber congenital amaurosis 23 tests
Leber congenital amaurosis 35 tests
Leber congenital amaurosis 47 tests
Leber congenital amaurosis 57 tests
Leber congenital amaurosis 66 tests
Leber congenital amaurosis 76 tests
Leber congenital amaurosis 83 tests
Leber congenital amaurosis 93 tests
Leber congenital amaurosis with early-onset deafness1 test
Leber's optic atrophy1 test
Left ventricular noncompaction 15 tests
Left ventricular noncompaction 105 tests
Left ventricular noncompaction 63 tests
Left ventricular noncompaction 73 tests
Left ventricular noncompaction 83 tests
Legius syndrome2 tests
Leigh syndrome21 tests
Lenz microphthalmia syndrome7 tests
Lenz-Majewski hyperostosis syndrome5 tests
Leprechaunism syndrome2 tests
Leptin deficiency or dysfunction8 tests
Leptin receptor deficiency8 tests
Leri-Weill dyschondrosteosis1 test
Lesch-Nyhan syndrome3 tests
Lethal acantholytic epidermolysis bullosa3 tests
Lethal arthrogryposis with anterior horn cell disease3 tests
Lethal congenital contracture syndrome 14 tests
Lethal congenital contracture syndrome 101 test
Lethal congenital contracture syndrome 112 tests
Lethal congenital contracture syndrome 52 tests
Lethal congenital contracture syndrome 81 test
Lethal multiple pterygium syndrome8 tests
Lethal osteosclerotic bone dysplasia1 test
Lethal tight skin contracture syndrome6 tests
Lethargy1 test
Leucine-induced hypoglycemia3 tests
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukocyte adhesion deficiency 11 test
Leukocyte adhesion deficiency type II2 tests
Leukocyte adhesion deficiency, type III1 test
Leukodystrophy and acquired microcephaly with or without dystonia1 test
Leukodystrophy, adult-onset, autosomal dominant2 tests
Leukodystrophy, hypomyelinating, 101 test
Leukodystrophy, hypomyelinating, 112 tests
Leukodystrophy, hypomyelinating, 121 test
Leukodystrophy, hypomyelinating, 131 test
Leukodystrophy, hypomyelinating, 141 test
Leukodystrophy, hypomyelinating, 151 test
Leukodystrophy, hypomyelinating, 161 test
Leukodystrophy, hypomyelinating, 171 test
Leukodystrophy, hypomyelinating, 182 tests
Leukodystrophy, hypomyelinating, 23 tests
Leukodystrophy, hypomyelinating, 43 tests
Leukodystrophy, hypomyelinating, 63 tests
Leukodystrophy, hypomyelinating, 92 tests
Leukoencephalopathy with ataxia3 tests
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3 tests
Leukoencephalopathy with dystonia and motor neuropathy4 tests
Leukoencephalopathy with vanishing white matter13 tests
Leukoencephalopathy, cystic, without megalencephaly1 test
Leukoencephalopathy, progressive, with ovarian failure4 tests
Levy-Hollister syndrome14 tests
Lewy body dementia3 tests
Leydig cell hypoplasia, type 12 tests
Li-Fraumeni syndrome 119 tests
Li-Fraumeni syndrome 25 tests
Liang-Wang syndrome4 tests
Lichtenstein-knorr syndrome1 test
Liddle syndrome2 tests
Liebenberg syndrome3 tests
Lig4 syndrome4 tests
Limb-girdle muscular dystrophy, type 1B4 tests
Limb-girdle muscular dystrophy, type 1E4 tests
Limb-girdle muscular dystrophy, type 1F3 tests
Limb-girdle muscular dystrophy, type 1G3 tests
Limb-girdle muscular dystrophy, type 2A3 tests
Limb-girdle muscular dystrophy, type 2J4 tests
Limb-girdle muscular dystrophy, type 2L3 tests
Limb-girdle muscular dystrophy, type 2Q5 tests
Limb-girdle muscular dystrophy, type 2S3 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C12 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C22 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C33 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C45 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C57 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C95 tests
Limb-mammary syndrome5 tests
Linear skin defects with multiple congenital anomalies 17 tests
Linear skin defects with multiple congenital anomalies 23 tests
Linear skin defects with multiple congenital anomalies 33 tests
Lipase deficiency, combined2 tests
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency3 tests
Lipodystrophy, congenital generalized, type 34 tests
Lipodystrophy, congenital generalized, type 45 tests
Lipoyltransferase 1 deficiency3 tests
Lissencephaly 102 tests
Lissencephaly 2, X-linked13 tests
Lissencephaly 35 tests
Lissencephaly 45 tests
Lissencephaly 53 tests
Lissencephaly 6, with microcephaly4 tests
Lissencephaly 7 with cerebellar hypoplasia2 tests
Lissencephaly 83 tests
Lissencephaly 9 with complex brainstem malformation4 tests
Lissencephaly due to LIS1 mutation5 tests
Lissencephaly, X-linked6 tests
Localized epidermolysis bullosa simplex5 tests
Loeys-Dietz syndrome 16 tests
Loeys-Dietz syndrome 211 tests
Loeys-Dietz syndrome 39 tests
Loeys-Dietz syndrome 48 tests
Loeys-Dietz syndrome 58 tests
Long QT syndrome1 test
Long QT syndrome 12 tests
Long QT syndrome 105 tests
Long QT syndrome 115 tests
Long QT syndrome 125 tests
Long QT syndrome 134 tests
Long QT syndrome 145 tests
Long QT syndrome 153 tests
Long QT syndrome 162 tests
Long QT syndrome 26 tests
Long QT syndrome 37 tests
Long QT syndrome 5