Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)

General information

Laboratory for Molecular Medicine
Partners HealthCare Personalized Medicine
65 Landsdowne Street
Cambridge
Massachusetts
United States - 02139-4232
http://www.partners.org/personalizedmedicine/lmm
Organization ID: 21766

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 22095

Gene

GeneSubmissionsLast Updated
A2M1Apr 3, 2017
ABCA101Apr 3, 2017
ABCA131Apr 3, 2017
ABCA330Feb 23, 2018
ABCA43Feb 23, 2018
ABCB111Apr 3, 2017
ABCB42Apr 3, 2017
ABCC21Aug 18, 2015
ABCC65Feb 23, 2018
ABCC81Apr 3, 2017
ABCC9100Feb 23, 2018
ABCG81Feb 23, 2018
ACACB1Apr 3, 2017
ACADM2Feb 23, 2018
ACADS1Feb 23, 2018
ACADVL1Feb 23, 2018
ACAN1Apr 3, 2017
ACE1Aug 18, 2015
ACOX11Aug 18, 2015
ACP53Apr 3, 2017
ACR2Apr 3, 2017
ACSF31Feb 23, 2018
ACTA16Feb 23, 2018
ACTA27Feb 23, 2018
ACTC146Feb 23, 2018
ACTG164Feb 23, 2018
ACTN2114Feb 23, 2018
ACTR3C1Apr 3, 2017
ACVR2B3Apr 3, 2017
ACVRL17Feb 23, 2018
ADA7Feb 23, 2018
ADA24Apr 3, 2017
ADAM331Apr 3, 2017
ADAMTS131Feb 23, 2018
ADAMTSL41Aug 18, 2015
ADAR1Feb 23, 2018
ADCY17Feb 23, 2018
ADCY101Apr 3, 2017
ADGRG11Mar 6, 2015
ADGRV1438Feb 23, 2018
ADH1C1Apr 3, 2017
ADSL2Feb 23, 2018
AGA2Apr 3, 2017
AGGF11Apr 3, 2017
AGL1Apr 3, 2017
AGXT1Apr 3, 2017
AGXT21Apr 3, 2017
AHDC11Apr 3, 2017
AHNAK25Apr 3, 2017
AICDA3Apr 3, 2017
AIP2Apr 3, 2017
AK11Apr 3, 2017
AK21Apr 3, 2017
AK54Apr 3, 2017
AK74Apr 3, 2017
AKAP93Apr 3, 2017
ALAD1Feb 23, 2018
ALB1Feb 23, 2018
ALDH7A11Feb 23, 2018
ALDOB1Feb 23, 2018
ALG11Feb 23, 2018
ALK7Apr 3, 2017
ALMS152Feb 23, 2018
ALOX12B2Apr 3, 2017
ALOXE31Feb 23, 2018
ALPK35Feb 23, 2018
ALPL1Apr 3, 2017
ALS2CL1Apr 3, 2017
AMH1Apr 3, 2017
AMT1Aug 18, 2015
ANAPC11Apr 3, 2017
ANK11Apr 3, 2017
ANK22Feb 23, 2018
ANKLE12Apr 3, 2017
ANKRD128Feb 23, 2018
ANO56Feb 23, 2018
ANTXR11Feb 23, 2018
AP1S31Apr 3, 2017
AP2S11Feb 23, 2018
AP3B117Feb 23, 2018
AP5Z11Apr 3, 2017
APC80Feb 23, 2018
APOB36Feb 23, 2018
APOL13Apr 26, 2016
APTX5Feb 23, 2018
AQP21Feb 23, 2018
AQP76Apr 3, 2017
AR1Apr 3, 2017
ARHGAP312Apr 3, 2017
ARHGAP41Apr 3, 2017
ARHGAP61Apr 3, 2017
ARID1B1Apr 3, 2017
ARIH11Apr 3, 2017
ARL2BP1Apr 3, 2017
ARMC43Feb 23, 2018
ARSB1Mar 6, 2015
ARSE1Mar 6, 2015
ASAH16Feb 23, 2018
ASB102Apr 3, 2017
ASCL19Feb 23, 2018
ASL1Feb 23, 2018
ASPA3Feb 23, 2018
ASPM2Feb 23, 2018
ASS11Feb 23, 2018
ATF61Feb 23, 2018
ATM5Apr 3, 2017
ATP13A51Apr 3, 2017
ATP2A22Apr 3, 2017
ATP2A31Apr 3, 2017
ATP6V0A42Feb 23, 2018
ATP6V1B143Feb 23, 2018
ATP7A1Apr 3, 2017
ATP7B3Feb 23, 2018
ATP8B11Apr 3, 2017
ATR4Apr 3, 2017
ATXN31Apr 3, 2017
ATXN71Apr 3, 2017
AURKC1Apr 3, 2017
AVPR22Feb 23, 2018
AXIN11Apr 3, 2017
AXIN23Apr 3, 2017
BAAT1Apr 3, 2017
BAG364Feb 23, 2018
BAIAP2L12Apr 3, 2017
BARD13Apr 3, 2017
BBS12Feb 23, 2018
BBS101Mar 6, 2015
BBS21Aug 18, 2015
BCAN1Apr 3, 2017
BCKDHA1Feb 23, 2018
BCL102Apr 3, 2017
BCL9L7Apr 3, 2017
BCLAF16Apr 3, 2017
BCS1L6Feb 23, 2018
BDNF4Feb 23, 2018
BEST12Feb 23, 2018
BICD12Apr 3, 2017
BICRA1Apr 3, 2017
BIN17Feb 23, 2018
BLK1Apr 3, 2017
BLM5Apr 3, 2017
BLNK2Apr 3, 2017
BLOC1S36Feb 23, 2018
BMP14Feb 23, 2018
BMPER1Apr 3, 2017
BMPR1A4Feb 23, 2018
BMPR25Feb 23, 2018
BNC21Apr 3, 2017
BPI5Apr 3, 2017
BRAF105Mar 23, 2018
BRCA182Feb 23, 2018
BRCA2122Feb 23, 2018
BRIP13Apr 3, 2017
BSND28Feb 23, 2018
BTBD71Apr 3, 2017
BTD4Feb 23, 2018
BTK3Apr 3, 2017
BUB1B2Apr 3, 2017
C12orf651Feb 23, 2018
C1S3Apr 3, 2017
C26Apr 3, 2017
C21orf581Apr 3, 2017
C4B1Apr 3, 2017
C4BPA2Apr 3, 2017
C4BPB4Apr 3, 2017
C59Feb 23, 2018
C65Feb 23, 2018
C8A5Apr 3, 2017
C8B2Feb 23, 2018
C92Apr 3, 2017
CABP25Feb 23, 2018
CACNA1A2Apr 3, 2017
CACNA1C4Feb 23, 2018
CACNA1D71Feb 23, 2018
CACNA1F2Apr 3, 2017
CACNA1S7Apr 3, 2017
CACNA2D41Aug 18, 2015
CACNB211Apr 3, 2017
CAPN11Feb 23, 2018
CAPN35Feb 23, 2018
CARD114Apr 3, 2017
CARD147Apr 3, 2017
CARD94Apr 3, 2017
CARMIL21Feb 23, 2018
CASP102Apr 3, 2017
CASP122Apr 3, 2017
CASP84Apr 3, 2017
CASQ249Feb 23, 2018
CASR2Feb 23, 2018
CAST1Apr 3, 2017
CATSPER22Feb 23, 2018
CAV323Feb 23, 2018
CAVIN418Feb 23, 2018
CBL52Mar 23, 2018
CBS10Feb 23, 2018
CC2D1A1Feb 23, 2018
CC2D2A1Feb 23, 2018
CCBE11Apr 3, 2017
CCDC1033Apr 3, 2017
CCDC1145Apr 3, 2017
CCDC1513Feb 23, 2018
CCDC3918Feb 23, 2018
CCDC4042Feb 23, 2018
CCDC5033Feb 23, 2018
CCDC656Feb 23, 2018
CCDC661Apr 3, 2017
CCN61Feb 23, 2018
CCNK3Apr 3, 2017
CCNO1Apr 3, 2017
CCP1106Apr 3, 2017
CD192Apr 3, 2017
CD2071Apr 3, 2017
CD272Apr 3, 2017
CD2AP1Apr 3, 2017
CD3E1Apr 3, 2017
CD3G2Apr 3, 2017
CD401Apr 3, 2017
CD461Feb 23, 2018
CD79B1Apr 3, 2017
CD8A3Apr 3, 2017
CDAN11Feb 23, 2018
CDC14A8Feb 23, 2018
CDH14Apr 3, 2017
CDH23496Feb 23, 2018
CDKN1B1Apr 3, 2017
CDKN1C1Apr 3, 2017
CDKN2A3Apr 3, 2017
CDYL1Apr 3, 2017
CEACAM1628Feb 23, 2018
CELA12Apr 3, 2017
CEMIP22Feb 23, 2018
CENPJ1Feb 23, 2018
CEP1521Feb 23, 2018
CEP1641Apr 3, 2017
CEP786Feb 23, 2018
CFB3Apr 3, 2017
CFD1Apr 3, 2017
CFHR52Feb 23, 2018
CFI1Apr 3, 2017
CFP1Apr 3, 2017
CFTR46Feb 23, 2018
CHAT7Feb 23, 2018
CHD711Feb 23, 2018
CHEK21Feb 23, 2018
CHI3L21Apr 3, 2017
CHRM210Feb 23, 2018
CHRNE1Mar 6, 2015
CIB29Feb 23, 2018
CIITA10Apr 3, 2017
CLCNKB14Feb 23, 2018
CLDN1421Feb 23, 2018
CLDN163Feb 23, 2018
CLEC4D1Apr 3, 2017
CLEC7A2Apr 3, 2017
CLIC55Feb 23, 2018
CLNK2Apr 3, 2017
CLPP15Feb 23, 2018
CLPS1Apr 3, 2017
CLPTM1L1Apr 3, 2017
CLRN120Feb 23, 2018
CLTCL11Apr 3, 2017
CNGA33Feb 23, 2018
CNGB31Feb 23, 2018
CNOT11Apr 3, 2017
CNTN61Apr 3, 2017
CNTNAP3B1Apr 3, 2017
COCH26Feb 23, 2018
COG41Aug 18, 2015
COG51Apr 3, 2017
COG65Apr 3, 2017
COL11A11Apr 3, 2017
COL11A2142Feb 23, 2018
COL17A12Feb 23, 2018
COL18A12Apr 3, 2017
COL1A21Apr 3, 2017
COL2A12Feb 23, 2018
COL3A116Feb 23, 2018
COL4A325Feb 23, 2018
COL4A426Feb 23, 2018
COL4A59Feb 23, 2018
COL5A11Apr 3, 2017
COL5A21Apr 3, 2017
COL6A11Apr 3, 2017
COL6A23Feb 23, 2018
COL6A31Apr 3, 2017
COL6A51Apr 3, 2017
COL7A12Feb 23, 2018
COL9A31Apr 3, 2017
COLEC112Apr 3, 2017
COQ21Apr 3, 2017
COQ8A1Apr 3, 2017
CORO1A1Apr 3, 2017
CP1Apr 3, 2017
CPN11Apr 3, 2017
CPT21Feb 23, 2018
CR26Apr 3, 2017
CRB12Feb 23, 2018
CREB3L11Apr 3, 2017
CRPPA4Feb 23, 2018
CRTAP1Aug 18, 2015
CRYAB15Feb 23, 2018
CRYGC1Apr 3, 2017
CRYM12Feb 23, 2018
CSF2RA14Feb 23, 2018
CSF2RB18Feb 23, 2018
CSF3R2Apr 3, 2017
CSPG41Apr 3, 2017
CSPP12Apr 3, 2017
CSRP338Feb 23, 2018
CST31Apr 3, 2017
CTAGE61Apr 3, 2017
CTC11Apr 3, 2017
CTF118Feb 23, 2018
CTLA41Apr 3, 2017
CTNNB11Apr 3, 2017
CTNS4Feb 23, 2018
CTPS11Apr 3, 2017
CTSA3Apr 3, 2017
CTSC4Apr 3, 2017
CTSG1Apr 3, 2017
CTU21Apr 3, 2017
CUBN2Feb 23, 2018
CUL31Feb 23, 2018
CUZD12Apr 3, 2017
CYB5R31Feb 23, 2018
CYP11B11Apr 3, 2017
CYP11B25Feb 23, 2018
CYP1B15Feb 23, 2018
CYP21A22Apr 3, 2017
CYP24A13Feb 23, 2018
CYP27A12Feb 23, 2018
CYP2C81Apr 3, 2017
CYP2C93Jan 29, 2015
CYP2E12Apr 3, 2017
CYP2F11Apr 3, 2017
CYP3A41Feb 23, 2018
CYP4B11Apr 3, 2017
CYP4V22Feb 23, 2018
DAG14Feb 23, 2018
DBH1Aug 18, 2015
DBT1Feb 23, 2018
DCLRE1C4Apr 3, 2017
DEFB1262Apr 3, 2017
DES71Feb 23, 2018
DGAT13Apr 3, 2017
DGUOK1Feb 23, 2018
DHCR73Feb 23, 2018
DHDDS1Aug 18, 2015
DHFR2Apr 3, 2017
DHODH1Apr 3, 2017
DIABLO10Feb 23, 2018
DIAPH153Feb 23, 2018
DICER12Apr 3, 2017
DKC11Apr 3, 2017
DMD96Feb 23, 2018
DMP11Feb 23, 2018
DMPK1Apr 3, 2017
DMXL11Apr 3, 2017
DNAAF126Feb 23, 2018
DNAAF217Feb 23, 2018
DNAAF316Feb 23, 2018
DNAAF45Feb 23, 2018
DNAAF54Apr 3, 2017
DNAH113Apr 3, 2017
DNAH1018Apr 3, 2017
DNAH11107Feb 23, 2018
DNAH1214Apr 3, 2017
DNAH1425Apr 3, 2017
DNAH1736Apr 3, 2017
DNAH215Apr 3, 2017
DNAH38Apr 3, 2017
DNAH5101Feb 23, 2018
DNAH617Apr 3, 2017
DNAH713Apr 3, 2017
DNAH816Apr 3, 2017
DNAH916Apr 3, 2017
DNAI115Feb 23, 2018
DNAI215Feb 23, 2018
DNAJA41Apr 3, 2017
DNAJB61Feb 23, 2018
DNAJC111Apr 3, 2017
DNAL14Feb 23, 2018
DNAL41Apr 3, 2017
DNM22Feb 23, 2018
DNMT3B6Apr 3, 2017
DOCK61Feb 23, 2018
DOCK840Feb 23, 2018
DOCK91Apr 3, 2017
DOK71Feb 23, 2018
DOLK18Feb 23, 2018
DPY19L21Apr 3, 2017
DRC18Apr 3, 2017
DSC295Feb 23, 2018
DSC31Apr 3, 2017
DSG13Apr 3, 2017
DSG2116Feb 23, 2018
DSP276Feb 23, 2018
DSPP1Apr 3, 2017
DST2Apr 3, 2017
DTNA42Feb 23, 2018
DTNBP19Feb 23, 2018
DUOX11Apr 3, 2017
DUOX23Feb 23, 2018
DYM1Apr 3, 2017
DYNC1H16Apr 3, 2017
DYNC1I14Apr 3, 2017
DYNC1I21Apr 3, 2017
DYNC2H116Apr 3, 2017
DYNLRB21Apr 3, 2017
DYNLT31Apr 3, 2017
DYRK1A1Feb 23, 2018
DYSF24Feb 23, 2018
EDA71Feb 23, 2018
EDAR6Feb 23, 2018
EDARADD1Aug 18, 2015
EDN39Feb 23, 2018
EDNRB24Feb 23, 2018
EEA11Apr 3, 2017
EFEMP26Feb 23, 2018
EFHC11Apr 3, 2017
EGFR146Feb 23, 2018
EIF2AK411Apr 3, 2017
EIF2B21Aug 18, 2015
ELAC21Apr 3, 2017
ELANE1Feb 23, 2018
ELF41Apr 3, 2017
ELMOD24Feb 23, 2018
ELN41Feb 23, 2018
ELP11Feb 23, 2018
EMD19Feb 23, 2018
EML51Apr 3, 2017
EN11Apr 3, 2017
ENG18Feb 23, 2018
ENPP12Feb 23, 2018
ENTPD51Apr 3, 2017
EPB41L11Apr 3, 2017
EPCAM2Apr 3, 2017
EPG55Feb 23, 2018
EPS87Feb 23, 2018
ERBB214Feb 23, 2018
ERCC24Apr 3, 2017
ERCC41Apr 3, 2017
ERCC52Feb 23, 2018
ERN11Apr 3, 2017
ESCO21Aug 18, 2015
ESPN27Feb 23, 2018
ESRRB45Feb 23, 2018
ETFB1Apr 3, 2017
EVI54Apr 3, 2017
EXD31Apr 3, 2017
EYA151Feb 23, 2018
EYA437Feb 23, 2018
EYS4Feb 23, 2018
F124Feb 23, 2018
F52Sep 25, 2017
F71Apr 3, 2017
F82Feb 23, 2018
FAH1Feb 23, 2018
FAM205A2Apr 3, 2017
FAM20C4Feb 23, 2018
FAM83H1Apr 3, 2017
FANCA1Aug 18, 2015
FANCB1Apr 3, 2017
FANCC1Apr 3, 2017
FANCE1Feb 23, 2018
FANCF1Aug 18, 2015
FANCI1Apr 3, 2017
FAS1Apr 3, 2017
FAT48Apr 3, 2017
FBLN55Feb 23, 2018
FBN1259Feb 23, 2018
FBN222Feb 23, 2018
FBXL41Feb 23, 2018
FCGR2A6Apr 3, 2017
FCGR3A6Apr 3, 2017
FCGR3B3Apr 3, 2017
FCN11Apr 3, 2017
FCRL61Apr 3, 2017
FECH2Apr 3, 2017
FERMT34Apr 3, 2017
FGB1Feb 23, 2018
FGF232Feb 23, 2018
FGG1Feb 23, 2018
FH2Apr 3, 2017
FHL230Feb 23, 2018
FIP1L11Feb 23, 2018
FKBP141Apr 3, 2017
FKRP3Feb 23, 2018
FKTN3Feb 23, 2018
FLCN10Feb 23, 2018
FLG4Feb 23, 2018
FLNC23Feb 23, 2018
FLT43Apr 3, 2017
FMO21Apr 3, 2017
FOCAD3Apr 3, 2017
FOXF12Feb 23, 2018
FOXN15Apr 3, 2017
FOXP31Apr 3, 2017
FOXRED11Aug 18, 2015
FPR16Apr 3, 2017
FRG2B2Apr 3, 2017
FRMPD41Apr 3, 2017
FSCN21Apr 3, 2017
FSIP11Apr 3, 2017
FTCD1Apr 3, 2017
FUBP11Apr 3, 2017
FUCA11Apr 3, 2017
FUS1Apr 3, 2017
FUT82Apr 3, 2017
FZD42Apr 3, 2017
G6PC1Feb 23, 2018
G6PC31Apr 3, 2017
G6PD3Feb 23, 2018
GAA8Feb 23, 2018
GABRA41Apr 3, 2017
GALC1Feb 23, 2018
GALE1Apr 3, 2017
GALNS1Feb 23, 2018
GAS85Apr 3, 2017
GATA23Apr 3, 2017
GATA32Feb 23, 2018
GATA45Feb 23, 2018
GATAD119Feb 23, 2018
GBA2Feb 23, 2018
GBE11Aug 18, 2015
GCH11Apr 3, 2017
GDF13Apr 3, 2017
GDF61Apr 3, 2017
GDNF3Feb 23, 2018
GFI14Apr 3, 2017
GFM12Apr 3, 2017
GFPT11Aug 18, 2015
GIGYF22Apr 3, 2017
GIPC342Feb 23, 2018
GJB2110Feb 23, 2018
GJB322Feb 23, 2018
GJB615Feb 23, 2018
GJC22Apr 3, 2017
GLA45Feb 23, 2018
GLRA11Apr 3, 2017
GMPPB2Feb 23, 2018
GNA111Feb 23, 2018
GNAS1Feb 23, 2018
GNE1Feb 23, 2018
GNPTAB2Feb 23, 2018
GNRHR1Feb 23, 2018
GOLGA6L102Apr 3, 2017
GOLGA6L61Apr 3, 2017
GPC31Apr 3, 2017
GPD1L5Feb 23, 2018
GPI2Feb 23, 2018
GPR1792Feb 23, 2018
GPSM239Feb 23, 2018
GREM11Apr 3, 2017
GRHL230Feb 23, 2018
GRHPR3Feb 23, 2018
GRIP11Feb 23, 2018
GRXCR125Feb 23, 2018
GSAP1Apr 3, 2017
GSDMA1Apr 3, 2017
GSDMD1Apr 3, 2017
GSDME41Feb 23, 2018
GUCY2C3Apr 3, 2017
GUCY2D2Apr 3, 2017
GUSB1Apr 3, 2017
GYPE1Apr 3, 2017
GYS21Feb 23, 2018
H6PD1Apr 3, 2017
HADHB1Apr 3, 2017
HARS6Feb 23, 2018
HARS222Feb 23, 2018
HAVCR11Apr 3, 2017
HBA21Apr 3, 2017
HBG11Apr 3, 2017
HCN23Apr 3, 2017
HCN42Apr 3, 2017
HDAC94Apr 3, 2017
HEATR11Apr 3, 2017
HERC23Apr 3, 2017
HEXA3Feb 23, 2018
HEXB1Apr 3, 2017
HEXD3Apr 3, 2017
HFE3Feb 23, 2018
HGF24Feb 23, 2018
HIBCH1Feb 23, 2018
HIVEP14Apr 3, 2017
HIVEP21Apr 3, 2017
HIVEP38Apr 3, 2017
HJV1Mar 6, 2015
HLCS2Apr 3, 2017
HNF1A5Apr 3, 2017
HNF1B1Apr 3, 2017
HNF4A1Apr 3, 2017
HOGA13Feb 23, 2018
HOPX2Feb 23, 2018
HPS116Feb 23, 2018
HPS311Feb 23, 2018
HPS414Feb 23, 2018
HPS513Feb 23, 2018
HPS66Feb 23, 2018
HR1Apr 3, 2017
HRAS42Mar 23, 2018
HS6ST11Apr 3, 2017
HSD17B31Feb 23, 2018
HSD17B435Feb 23, 2018
HSD3B21Feb 23, 2018
HSPD11Apr 3, 2017
HSPH13Feb 23, 2018
HTT2Apr 3, 2017
HYDIN7Apr 3, 2017
ICOS2Apr 3, 2017
IDH12Apr 3, 2017
IDUA2Feb 23, 2018
IFNG1Apr 3, 2017
IFNGR14Apr 3, 2017
IFNGR21Apr 3, 2017
IFT1721Aug 18, 2015
IFT521Apr 3, 2017
IFT883Apr 3, 2017
IGF11Apr 3, 2017
IGHMBP29Feb 23, 2018
IGSF31Apr 3, 2017
IKBKB1Apr 3, 2017
IL10RA2Apr 3, 2017
IL10RB2Apr 3, 2017
IL11RA1Apr 3, 2017
IL12RB18Apr 3, 2017
IL17F1Apr 3, 2017
IL17RA5Apr 3, 2017
IL1RN4Apr 3, 2017
IL20RA2Apr 3, 2017
IL212Apr 3, 2017
IL21R1Apr 3, 2017
IL2RA2Apr 3, 2017
IL36RN1Feb 23, 2018
IL7R5Apr 3, 2017
ILDR156Feb 23, 2018
ILK12Feb 23, 2018
INF21Apr 3, 2017
INHA1Apr 3, 2017
INMT1Apr 3, 2017
INSR2Apr 3, 2017
INVS1Apr 3, 2017
IQCB11Feb 23, 2018
IRAK41Apr 3, 2017
IRF2BP24Apr 3, 2017
IRS11Apr 3, 2017
ISG151Apr 3, 2017
ITGA71Apr 3, 2017
ITGA93Apr 3, 2017
ITGB26Apr 3, 2017
ITGB41Aug 18, 2015
JAG114Feb 23, 2018
JAG21Apr 3, 2017
JAK22Apr 3, 2017
JAK32Apr 3, 2017
JPH230Feb 23, 2018
JUP77Feb 23, 2018
KANK11Apr 3, 2017
KARS26Feb 23, 2018
KCNA52Apr 3, 2017
KCNE130Feb 23, 2018
KCNE21Feb 23, 2018
KCNE34Apr 3, 2017
KCNH228Feb 23, 2018
KCNJ21Apr 3, 2017
KCNK31Apr 3, 2017
KCNMB31Apr 3, 2017
KCNN36Apr 3, 2017
KCNQ183Feb 23, 2018
KCNQ457Feb 23, 2018
KDM2B1Apr 3, 2017
KDR1Apr 3, 2017
KHDC3L1Aug 18, 2015
KIAA05861Feb 23, 2018
KIF1A1Apr 3, 2017
KIF1B3Feb 23, 2018
KIF26B3Apr 3, 2017
KIF276Apr 3, 2017
KIF71Aug 18, 2015
KIFC11Apr 3, 2017
KISS11Apr 3, 2017
KITLG2Feb 23, 2018
KLF11Apr 3, 2017
KLHL31Feb 23, 2018
KLHL403Feb 23, 2018
KMT2C3Apr 3, 2017
KMT2D4Apr 3, 2017
KNG11Apr 3, 2017
KRAS74Mar 23, 2018
KRT851Apr 3, 2017
KRTAP10-101Apr 3, 2017
KRTAP4-81Apr 3, 2017
KRTAP5-51Apr 3, 2017
LAMA11Feb 23, 2018
LAMA21Mar 6, 2015
LAMA38Apr 3, 2017
LAMA4149Feb 23, 2018
LAMB21Feb 23, 2018
LAMP274Feb 23, 2018
LAPTM4B1Apr 3, 2017
LARS250Feb 23, 2018
LBR3Apr 3, 2017
LCN21Apr 3, 2017
LDB3136Feb 23, 2018
LDLR56Feb 23, 2018
LDLRAP11Apr 3, 2017
LFNG1Apr 3, 2017
LGALS9B1Apr 3, 2017
LHFPL512Feb 23, 2018
LHX41Mar 6, 2015
LIF1Apr 3, 2017
LIFR2Feb 23, 2018
LIG17Apr 3, 2017
LIG43Feb 23, 2018
LILRA61Apr 3, 2017
LIPA1Aug 18, 2015
LIPC1Aug 18, 2015
LMF11Apr 3, 2017
LMNA135Feb 23, 2018
LOX1Feb 23, 2018
LOXHD1238Feb 23, 2018
LPA1Apr 3, 2017
LPIN14Apr 3, 2017
LPIN23Apr 3, 2017
LPL1Apr 3, 2017
LPO1Apr 3, 2017
LRBA8Apr 3, 2017
LRIG16Apr 3, 2017
LRPAP11Feb 23, 2018
LRRC37A1Apr 3, 2017
LRRC61Apr 3, 2017
LRRC8A2Apr 3, 2017
LRTOMT25Feb 23, 2018
LTBP31Apr 3, 2017
LTBP427Feb 23, 2018
LURAP11Apr 3, 2017
LYST8Apr 3, 2017
MAGEF11Apr 3, 2017
MALT12Apr 3, 2017
MAN2B13Apr 3, 2017
MANBA4Apr 3, 2017
MAP2K144Mar 23, 2018
MAP2K275Mar 23, 2018
MAP3K61Apr 3, 2017
MARVELD236Feb 23, 2018
MASP23Apr 3, 2017
MBD11Apr 3, 2017
MBL23Apr 3, 2017
MCCC11Feb 23, 2018
MCEE1Apr 3, 2017
MCIDAS1Apr 3, 2017
MCM3AP2Apr 3, 2017
MCM42Feb 23, 2018
MDN12Apr 3, 2017
MECP21Apr 3, 2017
MED121Apr 3, 2017
MEF2A1Apr 3, 2017
MEFV3Feb 23, 2018
MEGF108Apr 3, 2017
MEN112Feb 23, 2018
MERTK1Apr 3, 2017
MESP21Apr 3, 2017
MET1Apr 3, 2017
METTL271Apr 3, 2017
MFSD121Apr 3, 2017
MFSD81Feb 23, 2018
MGAT21Feb 23, 2018
MICA5Apr 3, 2017
MIPEP1Feb 23, 2018
MIR1832Feb 23, 2018
MIR962Feb 23, 2018
MITF33Feb 23, 2018
MKS11Feb 23, 2018
MLH141Feb 23, 2018
MMAA1Feb 23, 2018
MMAB5Feb 23, 2018
MMACHC2Feb 23, 2018
MMADHC1Apr 3, 2017
MME1Feb 23, 2018
MMP15Apr 3, 2017
MMP211Feb 23, 2018
MMP35Apr 3, 2017
MMP83Apr 3, 2017
MMUT4Apr 3, 2017
MOCS21Aug 18, 2015
MPDZ1Aug 18, 2015
MPI3Apr 3, 2017
MPL1Feb 23, 2018
MPO2Apr 3, 2017
MPZ1Feb 23, 2018
MRAP1Aug 18, 2015
MRE112Apr 3, 2017
MROH2B1Apr 3, 2017
MROH81Apr 3, 2017
MRPL42Apr 3, 2017
MRPL91Apr 3, 2017
MSH243Feb 23, 2018
MSH54Apr 3, 2017
MSH664Feb 23, 2018
MSRB315Feb 23, 2018
MST1R1Apr 3, 2017
MT-CO11Feb 23, 2018
MT-RNR158Feb 23, 2018
MT-TS19Feb 23, 2018
MTFMT1Feb 23, 2018
MTHFD12Apr 3, 2017
MTHFR1Apr 3, 2017
MTM11Feb 23, 2018
MUC122Apr 3, 2017
MUC48Apr 3, 2017
MUC5B140Feb 23, 2018
MUC61Apr 3, 2017
MUTYH30Feb 23, 2018
MVK5Feb 23, 2018
MYBPC3559Feb 23, 2018
MYH1130Feb 23, 2018
MYH14158Feb 23, 2018
MYH22Apr 3, 2017
MYH6210Feb 23, 2018
MYH7567Feb 23, 2018
MYH9163Feb 23, 2018
MYL259Feb 23, 2018
MYL336Feb 23, 2018
MYLK34Feb 23, 2018
MYLK255Feb 23, 2018
MYO15A275Feb 23, 2018
MYO1A54Feb 23, 2018
MYO1E1Apr 3, 2017
MYO3A113Feb 23, 2018
MYO5B13Apr 3, 2017
MYO696Feb 23, 2018
MYO7A402Feb 23, 2018
MYO9B1Apr 3, 2017
MYOC1Apr 3, 2017
MYOM1101Feb 23, 2018
MYOT1Feb 23, 2018
MYOZ230Feb 23, 2018
MYPN66Feb 23, 2018
NAGA1Mar 6, 2015
NAT11Apr 3, 2017
NAT101Apr 3, 2017
NBAS2Feb 23, 2018
NBN6Apr 3, 2017
NCF12Apr 3, 2017
NCF21Apr 3, 2017
NCF43Apr 3, 2017
NCSTN1Apr 3, 2017
NDE113Feb 23, 2018
NDUFAF31Aug 18, 2015
NDUFV31Apr 3, 2017
NEB55Feb 23, 2018
NEBL107Feb 23, 2018
NECAB21Apr 3, 2017
NEK11Aug 18, 2015
NEK24Apr 3, 2017
NEK81Mar 6, 2015
NEUROG32Apr 3, 2017
NEXN70Feb 23, 2018
NF178Feb 23, 2018
NF23Apr 3, 2017
NFKB24Apr 3, 2017
NFKBIA3Apr 3, 2017
NFU11Apr 3, 2017
NKX2-12Feb 23, 2018
NKX2-57Feb 23, 2018
NLRC43Apr 3, 2017
NLRP13Apr 3, 2017
NLRP125Apr 3, 2017
NLRP141Apr 3, 2017
NLRP313Feb 23, 2018
NLRP76Apr 3, 2017
NME815Feb 23, 2018
NME91Apr 3, 2017
NMNAT11Feb 23, 2018
NOD25Apr 3, 2017
NODAL2Apr 3, 2017
NOG1Apr 3, 2017
NOP102Apr 3, 2017
NOS37Apr 3, 2017
NOTCH12Apr 3, 2017
NOTCH21Apr 3, 2017
NOTCH31Apr 3, 2017
NPC19Feb 23, 2018
NPC1L16Apr 3, 2017
NPHP31Apr 3, 2017
NPHP41Feb 23, 2018
NPHS22Feb 23, 2018
NPIPB51Apr 3, 2017
NPPA1Feb 23, 2018
NR3C23Feb 23, 2018
NR5A21Apr 3, 2017
NRAS10Feb 23, 2018
NSMAF1Apr 3, 2017
NUBPL1Feb 23, 2018
NUP1884Apr 3, 2017
OCA23Feb 23, 2018
OPN1LW1Apr 3, 2017
OPRM11Apr 3, 2017
OR13C52Apr 3, 2017
OR1B11Apr 3, 2017
OR2T331Apr 3, 2017
OR2T51Apr 3, 2017
OR51A21Apr 3, 2017
OR51F11Apr 3, 2017
OR52B41Apr 3, 2017
ORAI13Apr 3, 2017
ORC11Feb 23, 2018
ORC44Apr 3, 2017
OSBPL23Feb 23, 2018
OTC1Apr 3, 2017
OTOA53Feb 23, 2018
OTOF260Feb 23, 2018
OTOG242Feb 23, 2018
OTOGL132Feb 23, 2018
OTOR1Apr 3, 2017
OTULINL1Apr 3, 2017
P2RX230Feb 23, 2018
P2RX51Apr 3, 2017
PAH4Feb 23, 2018
PALB24Feb 23, 2018
PALLD5Apr 3, 2017
PAPSS22Feb 23, 2018
PAX330Feb 23, 2018
PCCA1Apr 3, 2017
PCCB1Feb 23, 2018
PCDH15222Feb 23, 2018
PCK21Feb 23, 2018
PCLO1Apr 3, 2017
PCNT1Feb 23, 2018
PCSK61Apr 3, 2017
PCSK97Apr 3, 2017
PDE11A1Aug 18, 2015
PDE4D1Apr 3, 2017
PDE4DIP2Apr 3, 2017
PDE6B2Feb 23, 2018
PDE8B1Apr 3, 2017
PDGFRA2Apr 3, 2017
PDLIM318Feb 23, 2018
PDX11Apr 3, 2017
PDZD729Feb 23, 2018
PEPD3Feb 23, 2018
PEX13Apr 3, 2017
PEX101Apr 3, 2017
PEX121Apr 3, 2017
PFKM1Mar 6, 2015
PGM31Feb 23, 2018
PHEX1Feb 23, 2018
PHF21A2Apr 3, 2017
PHOX2B10Feb 23, 2018
PHYH1Aug 18, 2015
PICALM3Apr 3, 2017
PIGN12Feb 23, 2018
PIGO1Feb 23, 2018
PIGV3Feb 23, 2018
PIK3CA14Jan 29, 2015
PIK3R14Apr 3, 2017
PINK11Mar 6, 2015
PJVK23Feb 23, 2018
PKD12Apr 3, 2017
PKHD13Feb 23, 2018
PKLR1Feb 23, 2018
PKM2Apr 3, 2017
PKP2156Feb 23, 2018
PLA2G4D1Apr 3, 2017
PLA2G61Feb 23, 2018
PLCG29Apr 3, 2017
PLD31Apr 3, 2017
PLEC73Feb 23, 2018
PLIN41Apr 3, 2017
PLN13Feb 23, 2018
PML2Apr 3, 2017
PMM22Feb 23, 2018
PMS247Feb 23, 2018
PNKP1Apr 3, 2017
PNP5Feb 23, 2018
PNPLA11Apr 3, 2017
POLD121Feb 23, 2018
POLE60Feb 23, 2018
POLG5Feb 23, 2018
POLG21Apr 3, 2017
POMGNT12Feb 23, 2018
POMT113Feb 23, 2018
POMT24Feb 23, 2018
POU3F419Feb 23, 2018
POU4F318Feb 23, 2018
PPA11Apr 3, 2017
PPOX1Mar 6, 2015
PPP1R171Apr 3, 2017
PPP1R371Apr 3, 2017
PPT11Apr 3, 2017
PRAMEF12Apr 3, 2017
PRAMEF22Apr 3, 2017
PRDM1679Feb 23, 2018
PRDM21Apr 3, 2017
PREPL1Apr 3, 2017
PRF12Apr 3, 2017
PRKAG287Feb 23, 2018
PRKAR1A1Feb 23, 2018
PRKCD5Apr 3, 2017
PRKN2Feb 23, 2018
PRKRA1Apr 3, 2017
PRODH1Apr 3, 2017
PROM11Aug 18, 2015
PROP14Apr 3, 2017
PRPS14Feb 23, 2018
PRSS12Apr 3, 2017
PRSS561Apr 3, 2017
PRX1Aug 18, 2015
PSAP12Feb 23, 2018
PSMB82Apr 3, 2017
PSPH1Apr 3, 2017
PTCH11Apr 3, 2017
PTCHD31Apr 3, 2017
PTEN9Feb 23, 2018
PTGES3L1Apr 3, 2017
PTH1Feb 23, 2018
PTPN11117Mar 23, 2018
PTPRD2Feb 23, 2018
PURA1Feb 23, 2018
PXDNL5Apr 3, 2017
PYGL2Apr 3, 2017
PYGM1Feb 23, 2018
QDPR1Feb 23, 2018
RAB27A2Feb 23, 2018
RAB3GAP21Aug 18, 2015
RAC22Apr 3, 2017
RAD171Apr 3, 2017
RAD521Apr 3, 2017
RAF190Mar 23, 2018
RAG12Apr 3, 2017
RAI12Apr 3, 2017
RAPSN1Mar 6, 2015
RARS21Apr 3, 2017
RASGRP24Apr 3, 2017
RB15Apr 3, 2017
RBCK11Apr 3, 2017
RBM20139Feb 23, 2018
RBM8A2Feb 23, 2018
RBMX1Apr 3, 2017
RDH51Aug 18, 2015
RDX26Feb 23, 2018
RECQL44Apr 3, 2017
RECQL51Apr 3, 2017
RET37Feb 23, 2018
RFX52Apr 3, 2017
RFXANK2Apr 3, 2017
RGPD41Apr 3, 2017
RGS21Apr 3, 2017
RHPN21Apr 3, 2017
RINT13Apr 3, 2017
RIPK21Apr 3, 2017
RIPOR215Feb 23, 2018
RIT114Feb 23, 2018
RNASEH2A6Feb 23, 2018
RNASEH2B1Feb 23, 2018
RNF1681Apr 3, 2017
RNF2121Apr 3, 2017
RNF433Apr 3, 2017
ROCK22Apr 3, 2017
RP1L11Apr 3, 2017
RP21Apr 3, 2017
RPGR24Feb 23, 2018
RPGRIP1L3Feb 23, 2018
RPL36A-HNRNPH22Feb 23, 2018
RPS191Apr 3, 2017
RPSA2Apr 3, 2017
RSPH17Feb 23, 2018
RSPH4A17Feb 23, 2018
RSPH95Feb 23, 2018
RSU11Apr 3, 2017
RTEL19Apr 3, 2017
RTN21Feb 23, 2018
RTTN7Apr 3, 2017
RUNX11Feb 23, 2018
RXYLT11Feb 23, 2018
RYR165Feb 23, 2018
RYR2329Feb 23, 2018
S1PR26Feb 23, 2018
SACS6Feb 23, 2018
SAR1B1Feb 23, 2018
SARS21Apr 3, 2017
SBDS2Apr 3, 2017
SCARF23Apr 3, 2017
SCN1B5Apr 3, 2017
SCN3B2Feb 23, 2018
SCN4B2Apr 3, 2017
SCN5A195Feb 23, 2018
SCN9A2Feb 23, 2018
SCNN1A13Feb 23, 2018
SCNN1B11Feb 23, 2018
SCNN1G10Feb 23, 2018
SDHA1Apr 3, 2017
SDHAF24Feb 23, 2018
SDHB18Feb 23, 2018
SDHC7Feb 23, 2018
SDHD13Feb 23, 2018
SEC633Apr 3, 2017
SELENON5Feb 23, 2018
SEMA3A1Apr 3, 2017
SEMA4A1Apr 3, 2017
SERAC14Feb 23, 2018
SERPINA110Feb 23, 2018
SERPINA32Apr 3, 2017
SERPINB634Feb 23, 2018
SERPING12Apr 3, 2017
SETBP12Apr 3, 2017
SETX8Apr 3, 2017
SFTPA119Feb 23, 2018
SFTPA28Feb 23, 2018
SFTPB12Feb 23, 2018
SFTPC4Feb 23, 2018
SFTPD12Feb 23, 2018
SGCA2Feb 23, 2018
SGCD45Feb 23, 2018
SGCG8Feb 23, 2018
SH3BP23Apr 3, 2017
SHANK31Apr 3, 2017
SHARPIN4Apr 3, 2017
SHH1Apr 3, 2017
SHOC28Feb 23, 2018
SHROOM36Apr 3, 2017
SI2Feb 23, 2018
SIGLEC121Apr 3, 2017
SIX14Feb 23, 2018
SKI7Feb 23, 2018
SKIV2L6Apr 3, 2017
SLC10A22Apr 3, 2017
SLC12A12Feb 23, 2018
SLC12A35Feb 23, 2018
SLC17A814Feb 23, 2018
SLC22A11Apr 3, 2017
SLC22A123Feb 23, 2018
SLC22A52Feb 23, 2018
SLC26A22Feb 23, 2018
SLC26A4162Feb 23, 2018
SLC26A516Feb 23, 2018
SLC26A95Apr 3, 2017
SLC2A104Feb 23, 2018
SLC2A21Feb 23, 2018
SLC34A11Apr 3, 2017
SLC34A22Apr 3, 2017
SLC34A34Feb 23, 2018
SLC35A11Apr 3, 2017
SLC35C13Apr 3, 2017
SLC37A41Feb 23, 2018
SLC38A51Apr 3, 2017
SLC39A132Apr 3, 2017
SLC39A45Apr 3, 2017
SLC3A12Feb 23, 2018
SLC46A11Apr 3, 2017
SLC4A11Apr 3, 2017
SLC4A111Aug 18, 2015
SLC52A24Feb 23, 2018
SLC52A316Feb 23, 2018
SLC5A18Apr 3, 2017
SLC6A191Mar 6, 2015
SLC6A51Apr 3, 2017
SLC7A71Apr 3, 2017
SLC7A91Aug 18, 2015
SLC9A3R11Apr 3, 2017
SLITRK66Feb 23, 2018
SMAD34Feb 23, 2018
SMAD41Feb 23, 2018
SMAD96Feb 23, 2018
SMO1Apr 3, 2017
SMPD15Feb 23, 2018
SMPX1Feb 23, 2018
SNCAIP1Apr 3, 2017
SNX131Apr 3, 2017
SOS1111Mar 23, 2018
SOX1021Feb 23, 2018
SP11013Apr 3, 2017
SPAG14Apr 3, 2017
SPAG71Apr 3, 2017
SPAST1Apr 3, 2017
SPATA71Mar 6, 2015
SPATC1L3Apr 3, 2017
SPEF214Apr 3, 2017
SPEN2Apr 3, 2017
SPG111Feb 23, 2018
SPG73Feb 23, 2018
SPINK520Feb 23, 2018
SPRED119Feb 23, 2018
SPRY41Apr 3, 2017
SPTA11Apr 3, 2017
SQSTM11Aug 18, 2015
SSC5D2Apr 3, 2017
STAT11Apr 3, 2017
STAT25Apr 3, 2017
STAT33Feb 23, 2018
STAT41Apr 3, 2017
STAT5B1Apr 3, 2017
STIM12Apr 3, 2017
STK119Feb 23, 2018
STK363Apr 3, 2017
STRC93Feb 23, 2018
STX111Apr 3, 2017
STXBP11Feb 23, 2018
STXBP26Apr 3, 2017
SUCLG11Apr 3, 2017
SULT1C31Apr 3, 2017
SYNE11Aug 18, 2015
SYNE428Feb 23, 2018
SYNM1Apr 3, 2017
SYVN11Apr 3, 2017
TALDO11Aug 18, 2015
TAP13Apr 3, 2017
TAP212Apr 3, 2017
TAPBP2Apr 3, 2017
TARDBP1Apr 3, 2017
TAZ29Feb 23, 2018
TBC1D2455Feb 23, 2018
TBCE1Apr 3, 2017
TBK13Apr 3, 2017
TBP1Apr 3, 2017
TBX13Feb 23, 2018
TBX43Apr 3, 2017
TBX51Feb 23, 2018
TCAF21Apr 3, 2017
TCAP22Feb 23, 2018
TCIRG14Apr 3, 2017
TCN21Apr 3, 2017
TCTN21Mar 6, 2015
TCTN31Aug 18, 2015
TECTA157Feb 23, 2018
TENM21Apr 3, 2017
TENT5A1Apr 3, 2017
TERC1Feb 23, 2018
TERT25Feb 23, 2018
TG1Aug 18, 2015
TGFB21Apr 26, 2016
TGFBR122Feb 23, 2018
TGFBR234Feb 23, 2018
TGIF11Apr 3, 2017
TGM11Feb 23, 2018
TH1Aug 18, 2015
THBD1Apr 3, 2017
THBS15Apr 3, 2017
TICAM14Apr 3, 2017
TIMM8A5Feb 23, 2018
TJP260Feb 23, 2018
TK21Feb 23, 2018
TLR32Apr 3, 2017
TMC169Feb 23, 2018
TMC64Apr 3, 2017
TMC82Apr 3, 2017
TMCO11Mar 6, 2015
TMEM1272Feb 23, 2018
TMEM1732Apr 3, 2017
TMEM4350Feb 23, 2018
TMEM671Feb 23, 2018
TMIE22Feb 23, 2018
TMPO46Feb 23, 2018
TMPRSS376Feb 23, 2018
TMPRSS61Apr 3, 2017
TNFRSF11A4Apr 3, 2017
TNFRSF13B4Apr 3, 2017
TNFRSF1A3Apr 3, 2017
TNFRSF41Apr 3, 2017
TNNC124Feb 23, 2018
TNNI3101Feb 23, 2018
TNNT16Feb 23, 2018
TNNT2120Feb 23, 2018
TNXB6Apr 3, 2017
TP5334Feb 23, 2018
TPM1103Feb 23, 2018
TPM21Feb 23, 2018
TPM31Feb 23, 2018
TPMT1Feb 23, 2018
TPP11Apr 3, 2017
TPRN17Feb 23, 2018
TPSB22Apr 3, 2017
TPTE21Apr 3, 2017
TRAF11Apr 3, 2017
TRAF3IP23Apr 3, 2017
TRDN45Feb 23, 2018
TREX12Apr 3, 2017
TRIM322Feb 23, 2018
TRIOBP123Feb 23, 2018
TRIP103Apr 3, 2017
TRIP111Feb 23, 2018
TRNT15Apr 3, 2017
TSC115Feb 23, 2018
TSC243Feb 23, 2018
TSEN541Feb 23, 2018
TSHR2Apr 3, 2017
TSPEAR61Feb 23, 2018
TSPOAP12Apr 3, 2017
TTC21B1Apr 3, 2017
TTC7A4Apr 3, 2017
TTC81Aug 18, 2015
TTLL15Apr 3, 2017
TTN2791Feb 23, 2018
TTN-AS12Feb 23, 2018
TTPA1Aug 18, 2015
TTR23Feb 23, 2018
TULP11Feb 23, 2018
TYK23Apr 3, 2017
TYMP1Feb 23, 2018
TYR4Feb 23, 2018
TYRP11Aug 18, 2015
UBE4A1Apr 3, 2017
UBR11Aug 18, 2015
UGT2A11Apr 3, 2017
ULK49Apr 3, 2017
UNC1191Apr 3, 2017
UNC13D7Apr 3, 2017
UNC801Feb 23, 2018
UNC93B12Apr 3, 2017
UPB11Apr 3, 2017
USB12Apr 3, 2017
USH1C128Feb 23, 2018
USH1G32Feb 23, 2018
USH2A583Mar 23, 2018
UTP41Apr 3, 2017
VANGL14Feb 23, 2018
VAV13Apr 3, 2017
VCL96Feb 23, 2018
VCX3A1Apr 3, 2017
VDR2Feb 23, 2018
VHL24Feb 23, 2018
VKORC12Jan 26, 2015
VPS13B2Apr 3, 2017
VPS531Apr 3, 2017
VSIG101Apr 3, 2017
VSX12Apr 3, 2017
VWF4Feb 23, 2018
WDR361Apr 3, 2017
WDR662Apr 3, 2017
WDR721Feb 23, 2018
WFS1197Feb 23, 2018
WHRN100Feb 23, 2018
WIPF12Apr 3, 2017
WNT10A1Apr 3, 2017
WRAP533Apr 3, 2017
WRN1Feb 23, 2018
WT15Feb 23, 2018
WWC11Apr 3, 2017
XDH2Feb 23, 2018
XIAP2Apr 3, 2017
XIRP21Apr 3, 2017
YBEY2Apr 3, 2017
ZAN3Apr 3, 2017
ZAP703Apr 3, 2017
ZFAT1Apr 3, 2017
ZFPM23Apr 3, 2017
ZIC31Apr 3, 2017
ZIC42Apr 3, 2017
ZIC51Apr 3, 2017
ZNF1412Apr 3, 2017
ZNF2331Apr 3, 2017
ZNF4801Apr 3, 2017
ZNF5361Apr 3, 2017
ZNF6742Feb 23, 2018
ZNF705G1Apr 3, 2017

Condition

NameSubmissionsLast Updated
3 beta-Hydroxysteroid dehydrogenase deficiency1Feb 23, 2018
3-Methylglutaconic aciduria type 212Feb 23, 2018
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2Feb 23, 2018
Achondrogenesis, type IA1Feb 23, 2018
Achromatopsia2Feb 23, 2018
Achromatopsia 22Feb 23, 2018
Acrocallosal syndrome, Schinzel type1Aug 18, 2015
Adams-Oliver syndrome1Feb 23, 2018
Adenylosuccinate lyase deficiency1Feb 23, 2018
Adult junctional epidermolysis bullosa2Feb 23, 2018
Afibrinogenemia, congenital1Feb 23, 2018
Aicardi Goutieres syndrome3Feb 23, 2018
Aicardi Goutieres syndrome 11Aug 18, 2015
Alagille syndrome 11Feb 23, 2018
Alpha-1-antitrypsin deficiency3Feb 23, 2018
Amelogenesis imperfecta1Feb 23, 2018
Amyloidogenic transthyretin amyloidosis5Feb 23, 2018
Analbuminemia1Feb 23, 2018
Argininosuccinate lyase deficiency1Feb 23, 2018
Arrhythmogenic right ventricular cardiomyopathy72Feb 23, 2018
Ataxia with vitamin E deficiency1Aug 18, 2015
Ataxia-oculomotor apraxia type 11Feb 23, 2018
Atrial septal defect2Feb 23, 2018
Atypical hemolytic uremic syndrome1Feb 23, 2018
Autosomal recessive centronuclear myopathy4Feb 23, 2018
Autosomal recessive congenital ichthyosis 11Feb 23, 2018
Autosomal recessive congenital ichthyosis 21Aug 18, 2015
Autosomal recessive non-syndromic intellectual disability1Feb 23, 2018
Autosomal recessive polycystic kidney disease2Feb 23, 2018
Bardet-Biedl syndrome1Feb 23, 2018
Bardet-Biedl syndrome 101Mar 6, 2015
Bardet-Biedl syndrome 21Aug 18, 2015
Bardet-Biedl syndrome 81Aug 18, 2015
Bestrophinopathy, autosomal recessive2Feb 23, 2018
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Feb 23, 2018
Bietti crystalline corneoretinal dystrophy2Feb 23, 2018
Biotinidase deficiency4Feb 23, 2018
Bloom syndrome1Aug 18, 2015
Brachyolmia1Feb 23, 2018
Bronchiectasis with or without elevated sweat chloride 11Feb 23, 2018
Brown-Vialetto-Van Laere syndrome 21Aug 18, 2015
Brugada syndrome14Feb 23, 2018
CHEK2-Related Cancer Susceptibility1Feb 23, 2018
Carbohydrate-deficient glycoprotein syndrome type I1Feb 23, 2018
Carcinoma of colon1Apr 26, 2016
Cardiac arrhythmia, ankyrin B-related1Aug 18, 2015
Cardio-facio-cutaneous syndrome30Feb 23, 2018
Cardiofaciocutaneous syndrome 11Feb 23, 2018
Cardiomyopathy27Feb 23, 2018
Carney complex1Feb 23, 2018
Carnitine palmitoyltransferase II deficiency1Feb 23, 2018
Catecholaminergic polymorphic ventricular tachycardia8Feb 23, 2018
Cerebellar ataxia infantile with progressive external ophthalmoplegia1Aug 18, 2015
Charcot-Marie-Tooth disease, demyelinating, type 4f1Aug 18, 2015
Cholestanol storage disease1Feb 23, 2018
Chudley-McCullough syndrome5Feb 23, 2018
Chylomicron retention disease1Feb 23, 2018
Ciliary dyskinesia21Feb 23, 2018
Ciliary dyskinesia, primary, 72Aug 18, 2015
Citrullinemia type I1Feb 23, 2018
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Aug 18, 2015
Collagen VI-related myopathy1Feb 23, 2018
Combined malonic and methylmalonic aciduria1Feb 23, 2018
Combined oxidative phosphorylation deficiency 151Feb 23, 2018
Combined oxidative phosphorylation deficiency 71Feb 23, 2018
Complement component 2 deficiency1Mar 6, 2015
Complement component 6 deficiency1Aug 18, 2015
Complement component 8 deficiency type 22Feb 23, 2018
Congenital amegakaryocytic thrombocytopenia1Feb 23, 2018
Congenital bilateral absence of the vas deferens2Feb 23, 2018
Congenital central hypoventilation2Feb 23, 2018
Congenital disorder of glycosylation1Feb 23, 2018
Congenital disorder of glycosylation type 2C1Aug 18, 2015
Congenital disorder of glycosylation type 2J1Aug 18, 2015
Congenital hypothyroidism2Feb 23, 2018
Congenital myasthenic syndrome 121Aug 18, 2015
Congenital myopathy1Feb 23, 2018
Congenital stationary night blindness2Feb 23, 2018
Corneal endothelial dystrophy type 21Aug 18, 2015
Costello syndrome11Feb 23, 2018
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1Mar 6, 2015
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1Mar 6, 2015
Cyclical neutropenia1Feb 23, 2018
Cystic fibrosis9Feb 23, 2018
Cystinosis1Feb 23, 2018
Cystinuria2Feb 23, 2018
Danon disease24Feb 23, 2018
Deafness, autosomal dominant 101Aug 18, 2015
Deafness, nonsyndromic sensorineural, mitochondrial3Feb 23, 2018
Deafness-infertility syndrome1Feb 23, 2018
Deficiency of butyryl-CoA dehydrogenase1Feb 23, 2018
Deficiency of transaldolase1Aug 18, 2015
Deficiency of xanthine oxidase2Feb 23, 2018
Diabetes mellitus AND insipidus with optic atrophy AND deafness1Mar 6, 2015
Diastrophic dysplasia1Feb 23, 2018
Dihydropteridine reductase deficiency1Feb 23, 2018
Dilated cardiomyopathy 1G1Aug 18, 2015
Disorder of glycolysis1Feb 23, 2018
Disseminated atypical mycobacterial infection1Aug 18, 2015
Distal spinal muscular atrophy1Feb 23, 2018
Dopamine beta hydroxylase deficiency1Aug 18, 2015
Dubin-Johnson syndrome1Aug 18, 2015
Dyskeratosis congenita autosomal dominant1Feb 23, 2018
Dyskeratosis congenita, autosomal dominant, 21Feb 23, 2018
Early infantile epileptic encephalopathy1Feb 23, 2018
Ectodermal dysplasia1Feb 23, 2018
Ectopia lentis, isolated autosomal recessive1Aug 18, 2015
Ehlers-Danlos syndrome3Feb 23, 2018
Ehlers-Danlos-like syndrome due to tenascin-X deficiency1Aug 18, 2015
Emery-Dreifuss muscular dystrophy, X-linked3Feb 23, 2018
Enlarged vestibular aqueduct63Feb 23, 2018
Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR1Mar 6, 2015
Epidermolysis bullosa junctionalis with pyloric atresia1Aug 18, 2015
Fabry disease9Feb 23, 2018
Familial Mediterranean fever2Feb 23, 2018
Familial adenomatous polyposis 112Feb 23, 2018
Familial cancer of breast2Feb 23, 2018
Familial dysautonomia1Feb 23, 2018
Familial hypercholesterolemia33Feb 23, 2018
Familial hypokalemia-hypomagnesemia1Aug 18, 2015
Familial restrictive cardiomyopathy4Feb 23, 2018
Fanconi anemia, complementation group A1Aug 18, 2015
Fanconi anemia, complementation group F1Aug 18, 2015
Farber disease1Feb 23, 2018
Fever-associated acute infantile liver failure syndrome2Feb 23, 2018
Focal segmental glomerulosclerosis 4, susceptibility to3Apr 26, 2016
Frasier syndrome1Feb 23, 2018
GNE myopathy1Feb 23, 2018
Galactosylceramide beta-galactosidase deficiency1Feb 23, 2018
Gastrointestinal stroma tumor1Feb 23, 2018
Gaucher disease1Feb 23, 2018
Generalized dominant dystrophic epidermolysis bullosa1Feb 23, 2018
Glaucoma 3, primary congenital, A3Feb 23, 2018
Glucocorticoid deficiency 21Aug 18, 2015
Glucose 6 phosphate dehydrogenase deficiency1Feb 23, 2018
Glycogen storage disease4Feb 23, 2018
Glycogen storage disease, type I2Feb 23, 2018
Glycogen storage disease, type IV1Aug 18, 2015
Glycogen storage disease, type VI1Mar 6, 2015
Glycogen storage disease, type VII1Mar 6, 2015
Griscelli disease1Feb 23, 2018
Hemochromatosis type 12Feb 23, 2018
Hemochromatosis type 2A1Mar 6, 2015
Hepatic lipase deficiency1Aug 18, 2015
Hepatic venoocclusive disease with immunodeficiency1Mar 6, 2015
Hereditary Paraganglioma-Pheochromocytoma Syndromes15Feb 23, 2018
Hereditary angioneurotic edema1Feb 23, 2018
Hereditary breast and ovarian cancer syndrome109Feb 23, 2018
Hereditary fructosuria1Feb 23, 2018
Hereditary methemoglobinemia1Feb 23, 2018
Hereditary nephrotic syndrome1Feb 23, 2018
Hereditary sensory and autonomic neuropathy1Feb 23, 2018
Hermansky-Pudlak syndrome3Feb 23, 2018
Hermansky-Pudlak syndrome 61Aug 18, 2015
Heterotaxia1Feb 23, 2018
Hidrotic ectodermal dysplasia syndrome1Feb 23, 2018
Holt-Oram syndrome1Feb 23, 2018
Homocystinuria due to CBS deficiency2Feb 23, 2018
Hutchinson-Gilford syndrome1Feb 23, 2018
Hydatidiform mole1Mar 6, 2015
Hydatidiform mole, recurrent, 21Aug 18, 2015
Hydrocephalus, congenital, 2, with or without brain or eye anomalies1Aug 18, 2015
Hyperimmunoglobulin D with periodic fever1Feb 23, 2018
Hyperphosphatasia-intellectual disability syndrome2Feb 23, 2018
Hypobetalipoproteinemia1Feb 23, 2018
Hypohidrotic ectodermal dysplasia50Feb 23, 2018
Hypophosphatemic rickets1Feb 23, 2018
Hypothyroidism, congenital, nongoitrous, 11Mar 6, 2015
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Feb 23, 2018
I cell disease1Aug 18, 2015
Ichthyosis vulgaris2Feb 23, 2018
Idiopathic and/or familial pulmonary arterial hypertension1Feb 23, 2018
Idiopathic fibrosing alveolitis, chronic form4Feb 23, 2018
Idiopathic hypercalcemia of infancy1Aug 18, 2015
Idiopathic membranous glomerulonephritis1Feb 23, 2018
Immunodeficiency 231Feb 23, 2018
Immunodeficiency due to a late component of complement deficiency2Feb 23, 2018
Inclusion body myopathy 31Aug 18, 2015
Iodotyrosyl coupling defect1Aug 18, 2015
Isolated congenital hypogonadotropic hypogonadism1Feb 23, 2018
Jervell and Lange-Nielsen syndrome7Feb 23, 2018
Johanson-Blizzard syndrome1Aug 18, 2015
Joubert syndrome4Feb 23, 2018
Joubert syndrome 71Aug 18, 2015
Juvenile myelomonocytic leukemia5Feb 23, 2018
Lamellar ichthyosis1Feb 23, 2018
Laminopathy4Feb 23, 2018
Late-infantile neuronal ceroid lipofuscinosis1Feb 23, 2018
Leber congenital amaurosis1Feb 23, 2018
Leber congenital amaurosis 31Mar 6, 2015
Legius syndrome1Feb 23, 2018
Leukoencephalopathy with vanishing white matter1Aug 18, 2015
Li-Fraumeni syndrome17Feb 23, 2018
Lig4 syndrome1Feb 23, 2018
Limb-girdle muscular dystrophy7Feb 23, 2018
Limb-girdle muscular dystrophy, type 2A1Aug 18, 2015
Limb-girdle muscular dystrophy, type 2L1Aug 18, 2015
Loeys-Dietz syndrome7Feb 23, 2018
Lynch syndrome52Feb 23, 2018
Lysosomal acid lipase deficiency1Aug 18, 2015
MYH-associated polyposis7Feb 23, 2018
Malignant hyperthermia susceptibility8Feb 23, 2018
Maple syrup urine disease2Feb 23, 2018
Marfan syndrome132Feb 23, 2018
Maternally-inherited progressive external ophthalmoplegia1Feb 23, 2018
Meckel-Gruber syndrome2Feb 23, 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Feb 23, 2018
Megaloblastic anemia due to inborn errors of metabolism1Mar 6, 2015
Meier-Gorlin syndrome1Feb 23, 2018
Melnick-Fraser syndrome15Feb 23, 2018
Mental retardation, autosomal dominant 71Feb 23, 2018
Merosin deficient congenital muscular dystrophy1Mar 6, 2015
Metachondromatosis1Feb 23, 2018
Methylcrotonyl-CoA carboxylase deficiency1Feb 23, 2018
Methylmalonic acidemia with homocystinuria2Feb 23, 2018
Methylmalonic aciduria cblB type1Aug 18, 2015
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2Feb 23, 2018
Microcephalic osteodysplastic primordial dwarfism type 21Feb 23, 2018
Mitochondrial DNA depletion syndrome3Feb 23, 2018
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency1Feb 23, 2018
Mitochondrial complex I deficiency2Aug 18, 2015
Mitochondrial complex III deficiency1Aug 18, 2015
Mitochondrial neurogastrointestinal encephalomyopathy1Feb 23, 2018
Mitochondrial oxidative phosphorylation disorder1Feb 23, 2018
Molybdenum cofactor deficiency, complementation group B1Aug 18, 2015
Mucopolysaccharidosis type I2Feb 23, 2018
Mucopolysaccharidosis type VI1Mar 6, 2015
Mucopolysaccharidosis, MPS-IV-A1Feb 23, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome2Feb 23, 2018
Multiple endocrine neoplasia, type 13Feb 23, 2018
Multiple endocrine neoplasia, type 23Feb 23, 2018
Multiple fibrofolliculomas2Feb 23, 2018
Muscular dystrophy4Feb 23, 2018
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency4Feb 23, 2018
Myeloperoxidase deficiency1Mar 6, 2015
Myofibrillar myopathy4Feb 23, 2018
Myofibrillar myopathy 17Feb 23, 2018
Myopathy, Central Core1Feb 23, 2018
Myopathy, distal, 12Feb 23, 2018
Nemaline myopathy 21Aug 18, 2015
Neoplasm of ovary6Apr 26, 2016
Nephrotic syndrome, idiopathic, steroid-resistant1Aug 18, 2015
Netherton syndrome2Feb 23, 2018
Neurofibromatosis, type 19Feb 23, 2018
Neutral 1 amino acid transport defect1Mar 6, 2015
Niemann-Pick disease, type A1Feb 23, 2018
Niemann-Pick disease, type C3Feb 23, 2018
Non-ketotic hyperglycinemia1Aug 18, 2015
Non-small cell lung cancer74Feb 23, 2018
Non-syndromic pontocerebellar hypoplasia1Feb 23, 2018
Nonsyndromic hearing loss and deafness278Feb 23, 2018
Noonan syndrome113Feb 23, 2018
Noonan syndrome with multiple lentigines4Feb 23, 2018
Noonan syndrome-like disorder with loose anagen hair 11Feb 23, 2018
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia5Feb 23, 2018
Oculocutaneous albinism4Feb 23, 2018
Oculocutaneous albinism type 31Aug 18, 2015
Odontotrichomelic syndrome1Feb 23, 2018
Orofacial-digital syndrome IV1Aug 18, 2015
Osteogenesis imperfecta type 71Aug 18, 2015
Osteopetrosis autosomal recessive 11Mar 6, 2015
PLA2G6-associated neurodegeneration1Feb 23, 2018
PTEN hamartoma tumor syndrome4Feb 23, 2018
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation1Feb 23, 2018
Paget disease of bone, familial1Aug 18, 2015
Parkinson disease 6, autosomal recessive early-onset1Mar 6, 2015
Pendred syndrome63Feb 23, 2018
Perrault syndrome3Feb 23, 2018
Phenylketonuria4Feb 23, 2018
Phytanic acid storage disease1Aug 18, 2015
Pierson syndrome1Feb 23, 2018
Pigmentary retinal dystrophy1Aug 18, 2015
Pigmented nodular adrenocortical disease, primary, 21Aug 18, 2015
Pituitary hormone deficiency, combined 41Mar 6, 2015
Polymicrogyria, bilateral frontoparietal1Mar 6, 2015
Poretti-Boltshauser syndrome1Feb 23, 2018
Primary autosomal recessive microcephaly1Feb 23, 2018
Primary dilated cardiomyopathy237Feb 23, 2018
Primary familial hypertrophic cardiomyopathy334Feb 23, 2018
Primary hyperoxaluria, type II1Feb 23, 2018
Primary hyperoxaluria, type III2Feb 23, 2018
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies1Feb 23, 2018
Primary pulmonary hypertension1Feb 23, 2018
Progressive familial intrahepatic cholestasis 31Aug 18, 2015
Progressive pseudorheumatoid dysplasia1Feb 23, 2018
Prolidase deficiency1Feb 23, 2018
Propionyl-CoA carboxylase deficiency1Feb 23, 2018
Pseudo-Hurler polydystrophy1Feb 23, 2018
Pseudoneonatal adrenoleukodystrophy1Aug 18, 2015
Pseudoxanthoma elasticum2Feb 23, 2018
Purine-nucleoside phosphorylase deficiency1Feb 23, 2018
Pustular psoriasis, generalized1Feb 23, 2018
Pyridoxine-dependent epilepsy1Feb 23, 2018
Pyruvate kinase deficiency of red cells1Feb 23, 2018
Radial aplasia-thrombocytopenia syndrome2Feb 23, 2018
Rare genetic deafness1Feb 23, 2018
Rare isolated myopia1Feb 23, 2018
Rasopathy44Feb 23, 2018
Recessive dystrophic epidermolysis bullosa1Feb 23, 2018
Renal carnitine transport defect1Feb 23, 2018
Renal dysplasia1Aug 18, 2015
Renal tubular acidosis with progressive nerve deafness1Feb 23, 2018
Retinal cone dystrophy 41Aug 18, 2015
Retinal dystrophy1Feb 23, 2018
Retinitis pigmentosa4Feb 23, 2018
Retinitis pigmentosa 252Aug 18, 2015
Retinitis pigmentosa 411Aug 18, 2015
Retinitis pigmentosa 591Aug 18, 2015
Roberts-SC phocomelia syndrome1Aug 18, 2015
Romano-Ward syndrome12Feb 23, 2018
Schindler disease, type 11Mar 6, 2015
Seckel syndrome1Feb 23, 2018
Segawa syndrome, autosomal recessive1Aug 18, 2015
Senior-Loken syndrome 51Feb 23, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type2Aug 18, 2015
Severe combined immunodeficiency due to ADA deficiency2Feb 23, 2018
Short rib-polydactyly syndrome, Majewski type1Aug 18, 2015
Short-rib thoracic dysplasia 10 with or without polydactyly1Aug 18, 2015
Sitosterolemia1Feb 23, 2018
Skeletal muscle disease2Feb 23, 2018
Smith-Lemli-Opitz syndrome3Feb 23, 2018
Spastic ataxia Charlevoix-Saguenay type3Feb 23, 2018
Spastic paraplegia 11, autosomal recessive1Feb 23, 2018
Spastic paraplegia 73Feb 23, 2018
Spinocerebellar ataxia, autosomal recessive 81Aug 18, 2015
Spondyloepimetaphyseal dysplasia, pakistani type1Aug 18, 2015
Spondyloperipheral dysplasia1Aug 18, 2015
Spongy degeneration of central nervous system3Feb 23, 2018
Stargardt disease 13Feb 23, 2018
Stuve-Wiedemann syndrome2Feb 23, 2018
Sucrase-isomaltase deficiency2Feb 23, 2018
Supravalvar aortic stenosis24Feb 23, 2018
Tay-Sachs disease2Feb 23, 2018
Testosterone 17-beta-dehydrogenase deficiency1Feb 23, 2018
Thoracic aortic aneurysm and aortic dissection7Feb 23, 2018
Thrombophilia due to activated protein C resistance1Sep 25, 2017
Thyroid dyshormonogenesis 61Mar 6, 2015
Tooth agenesis, selective, X-linked, 12Feb 23, 2018
Tuberous sclerosis syndrome1Feb 23, 2018
Tumoral calcinosis, familial, hyperphosphatemic1Aug 18, 2015
Tyrosinase-negative oculocutaneous albinism1Aug 18, 2015
Tyrosine kinase inhibitor response53Apr 26, 2016
Tyrosinemia type I1Feb 23, 2018
Usher syndrome7Mar 23, 2018
Usher syndrome, type 1109Feb 23, 2018
Usher syndrome, type 1C2Feb 23, 2018
Usher syndrome, type 1D38Feb 23, 2018
Usher syndrome, type 1F10Feb 23, 2018
Usher syndrome, type 1G1Feb 23, 2018
Usher syndrome, type 2A101Feb 23, 2018
Usher syndrome, type 2C26Feb 23, 2018
Usher syndrome, type 2D2Feb 23, 2018
Usher syndrome, type 3A7Feb 23, 2018
Variegate porphyria1Mar 6, 2015
Very long chain acyl-CoA dehydrogenase deficiency1Feb 23, 2018
Vici syndrome1Feb 23, 2018
Von Hippel-Lindau syndrome16Feb 23, 2018
Waardenburg syndrome15Feb 23, 2018
Walker-Warburg congenital muscular dystrophy2Feb 23, 2018
Warburg micro syndrome 21Aug 18, 2015
Warfarin response5Jan 29, 2015
Weill-Marchesani syndrome1Feb 23, 2018
Werner syndrome1Feb 23, 2018
Wilson disease2Feb 23, 2018
Xeroderma pigmentosum, group G2Feb 23, 2018
Young-onset Parkinson disease1Feb 23, 2018
not specified19332Mar 23, 2018
von Willebrand disorder2Feb 23, 2018

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 22 tests
Adenine phosphoribosyltransferase deficiency1 test
Adolescent nephronophthisis1 test
Alpha-1-antitrypsin deficiency2 tests
Alpha-B crystallinopathy2 tests
Alport syndrome1 test
Alport syndrome 1, X-linked recessive1 test
Alport syndrome, autosomal recessive1 test
Alstrom syndrome2 tests
Amyloidogenic transthyretin amyloidosis4 tests
Apparent mineralocorticoid excess1 test
Arrhythmogenic right ventricular cardiomyopathy, type 102 tests
Arrhythmogenic right ventricular cardiomyopathy, type 112 tests
Arrhythmogenic right ventricular cardiomyopathy, type 122 tests
Arrhythmogenic right ventricular cardiomyopathy, type 52 tests
Arrhythmogenic right ventricular cardiomyopathy, type 82 tests
Arrhythmogenic right ventricular cardiomyopathy, type 92 tests
Arrhythmogenic right ventricular dysplasia, familial, 22 tests
Atrial fibrillation, familial, 122 tests
Atypical hemolytic-uremic syndrome 11 test
Atypical hemolytic-uremic syndrome 21 test
Atypical hemolytic-uremic syndrome 31 test
Atypical hemolytic-uremic syndrome 41 test
Atypical hemolytic-uremic syndrome 51 test
Auditory neuropathy1 test
Autoimmune disease, multisystem, infantile-onset, 11 test
Autosomal dominant hypophosphatemic rickets1 test
Autosomal recessive cutis laxa type 1B2 tests
Autosomal recessive cutis laxa type IA2 tests
Autosomal recessive hypophosphatemic bone disease1 test
Autosomal recessive polycystic kidney disease1 test
Barakat syndrome2 tests
Bardet-Biedl syndrome 141 test
Bartter syndrome type 31 test
Bartter syndrome type 41 test
Bartter syndrome, type 1, antenatal1 test
Bartter syndrome, type 2, antenatal1 test
Becker muscular dystrophy2 tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
Branchiootorenal Spectrum Disorders1 test
Bronchiectasis with or without elevated sweat chloride 12 tests
Bronchiectasis with or without elevated sweat chloride 22 tests
Bronchiectasis with or without elevated sweat chloride 32 tests
Brown-Vialetto-Van Laere syndrome1 test
Brugada syndrome 12 tests
C1q deficiency1 test
CHARGE association1 test
Cardio-facio-cutaneous syndrome1 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy2 tests
Cardiomyopathy, dilated, 1NN3 tests
Cardiomyopathy, dilated, 2b2 tests
Catecholaminergic polymorphic ventricular tachycardia type 12 tests
Choreoathetosis, hypothyroidism, and neonatal respiratory distress3 tests
Chronic obstructive pulmonary disease2 tests
Chudley-McCullough syndrome1 test
Ciliary dyskinesia1 test
Ciliary dyskinesia, primary, 102 tests
Ciliary dyskinesia, primary, 112 tests
Ciliary dyskinesia, primary, 122 tests
Ciliary dyskinesia, primary, 132 tests
Ciliary dyskinesia, primary, 142 tests
Ciliary dyskinesia, primary, 152 tests
Ciliary dyskinesia, primary, 162 tests
Ciliary dyskinesia, primary, 32 tests
Ciliary dyskinesia, primary, 62 tests
Ciliary dyskinesia, primary, 72 tests
Ciliary dyskinesia, primary, 92 tests
Cone-rod dystrophy and hearing loss1 test
Congenital central hypoventilation2 tests
Congenital muscular dystrophy, LMNA-related2 tests
Corticosterone methyloxidase type 1 deficiency1 test
Costello syndrome2 tests
Cryptophthalmos syndrome1 test
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities2 tests
Cutis laxa, autosomal dominant 12 tests
Cutis laxa, autosomal dominant 22 tests
Cystic fibrosis2 tests
Danon disease3 tests
Deafness, X-linked 21 test
Deafness, autosomal dominant 3a1 test
Deafness, autosomal recessive 1A1 test
Deafness, nonsyndromic sensorineural, mitochondrial1 test
Dent disease 12 tests
Diabetes mellitus AND insipidus with optic atrophy AND deafness1 test
Diabetes mellitus type 23 tests
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA3 tests
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C2 tests
Dilated cardiomyopathy 1CC3 tests
Dilated cardiomyopathy 1DD2 tests
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF3 tests
Dilated cardiomyopathy 1G2 tests
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I2 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK2 tests
Dilated cardiomyopathy 1L2 tests
Dilated cardiomyopathy 1M3 tests
Dilated cardiomyopathy 1N2 tests
Dilated cardiomyopathy 1O2 tests
Dilated cardiomyopathy 1P3 tests
Dilated cardiomyopathy 1R3 tests
Dilated cardiomyopathy 1S3 tests
Dilated cardiomyopathy 1W2 tests
Dilated cardiomyopathy 1Y3 tests
Dilated cardiomyopathy 1Z3 tests
Dilated cardiomyopathy 2A3 tests
Dilated cardiomyopathy 3B2 tests
Dilated cardiomyopathy with woolly hair and keratoderma2 tests
Distal myopathy Markesbery-Griggs type2 tests
Distal myopathy, Tateyama type1 test
Drash syndrome1 test
Duchenne muscular dystrophy2 tests
Dyskeratosis congenita autosomal dominant3 tests
Dyskeratosis congenita, autosomal dominant, 23 tests
Emery-Dreifuss muscular dystrophy 1, X-linked2 tests
Enamel-renal syndrome1 test
Enlarged vestibular aqueduct2 tests
Epidermolysis bullosa junctionalis with pyloric atresia1 test
Fabry disease5 tests
Fabry disease, cardiac variant1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial hypertrophic cardiomyopathy 13 tests
Familial hypertrophic cardiomyopathy 103 tests
Familial hypertrophic cardiomyopathy 113 tests
Familial hypertrophic cardiomyopathy 123 tests
Familial hypertrophic cardiomyopathy 133 tests
Familial hypertrophic cardiomyopathy 142 tests
Familial hypertrophic cardiomyopathy 152 tests
Familial hypertrophic cardiomyopathy 163 tests
Familial hypertrophic cardiomyopathy 171 test
Familial hypertrophic cardiomyopathy 183 tests
Familial hypertrophic cardiomyopathy 23 tests
Familial hypertrophic cardiomyopathy 203 tests
Familial hypertrophic cardiomyopathy 33 tests
Familial hypertrophic cardiomyopathy 43 tests
Familial hypertrophic cardiomyopathy 63 tests
Familial hypertrophic cardiomyopathy 73 tests
Familial hypertrophic cardiomyopathy 83 tests
Familial hypertrophic cardiomyopathy 92 tests
Familial hypokalemia-hypomagnesemia1 test
Familial renal hypouricemia1 test
Familial restrictive cardiomyopathy 13 tests
Familial restrictive cardiomyopathy 33 tests
Finnish congenital nephrotic syndrome1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 4, susceptibility to2 tests
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Glycogen storage disease of heart, lethal congenital3 tests
Hereditary disease2 tests
Hereditary hearing loss and deafness4 tests
Hereditary hemorrhagic telangiectasia type 22 tests
Hereditary myopathy with early respiratory failure2 tests
Hermansky Pudlak syndrome 23 tests
Hermansky-Pudlak syndrome3 tests
Hermansky-Pudlak syndrome 13 tests
Hermansky-Pudlak syndrome 33 tests
Hermansky-Pudlak syndrome 43 tests
Hermansky-Pudlak syndrome 53 tests
Hermansky-Pudlak syndrome 63 tests
Hermansky-Pudlak syndrome 73 tests
Hermansky-Pudlak syndrome 83 tests
Hermansky-Pudlak syndrome 93 tests
Hypercalciuric hypercalcemia1 test
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
Hyperimmunoglobulin E syndrome1 test
Hyperparathyroidism 21 test
Hypertrophic cardiomyopathy1 test
Hypocalcemia, autosomal dominant 21 test
Hypocalciuric hypercalcemia, familial, type III1 test
Hypomagnesemia 5, renal, with ocular involvement1 test
Hypoparathyroidism familial isolated1 test
Idiopathic fibrosing alveolitis, chronic form3 tests
Idiopathic hypercalcemia of infancy1 test
Infantile nephronophthisis1 test
Jervell and Lange-Nielsen syndrome1 test
Kartagener syndrome2 tests
Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
Keratoderma palmoplantar deafness1 test
LEOPARD syndrome 14 tests
LEOPARD syndrome 24 tests
LEOPARD syndrome 31 test
Left ventricular noncompaction 12 tests
Left ventricular noncompaction 103 tests
Left ventricular noncompaction 63 tests
Left ventricular noncompaction 82 tests
Legius syndrome1 test
Lesch-Nyhan syndrome1 test
Limb-girdle muscular dystrophy, type 1B2 tests
Limb-girdle muscular dystrophy, type 1C1 test
Limb-girdle muscular dystrophy, type 2F2 tests
Limb-girdle muscular dystrophy, type 2G2 tests
Limb-girdle muscular dystrophy, type 2J2 tests
Lowe syndrome1 test
Lymphangiomyomatosis2 tests
MASS syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
Marfan syndrome1 test
Medullary cystic kidney disease 11 test
Medullary cystic kidney disease 21 test
Microphthalmia syndromic 61 test
Mohr-Tranebjaerg syndrome1 test
Multiple fibrofolliculomas2 tests
Muscular dystrophy, limb-girdle, type 2R2 tests
Mutilating keratoderma1 test
Myofibrillar myopathy 12 tests
Myofibrillar myopathy, BAG3-related2 tests
Myofibrillar myopathy, ZASP-related2 tests
Myopathy, centronuclear2 tests
Myopathy, distal, 13 tests
Myopathy, early-onset, with fatal cardiomyopathy2 tests
Myosin storage myopathy3 tests
Nail-patella syndrome1 test
Naxos disease2 tests
Nephrogenic diabetes insipidus, X-linked1 test
Nephrogenic diabetes insipidus, autosomal1 test
Nephronophthisis 11 test
Nephronophthisis 161 test
Nephronophthisis 41 test
Nephropathic cystinosis1 test
Nephrotic syndrome, idiopathic, steroid-resistant1 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 71 test
Neurofibromatosis, type 12 tests
Neurofibromatosis-Noonan syndrome1 test
Neurohypophyseal diabetes insipidus1 test
Noonan syndrome1 test
Noonan syndrome 14 tests
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 54 tests
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome 81 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
Osler hemorrhagic telangiectasia syndrome2 tests
Otofaciocervical syndrome 11 test
Pendred syndrome2 tests
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Persistent fetal circulation2 tests
Pierson syndrome1 test
Pneumothorax, primary spontaneous2 tests
Polycystic kidney disease 21 test
Primary ciliary dyskinesia 242 tests
Primary dilated cardiomyopathy2 tests
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Primary hyperoxaluria, type III1 test
Primary hypomagnesemia1 test
Primary pulmonary hypertension2 tests
Primary pulmonary hypertension 22 tests
Pseudohypoaldosteronism type 1 autosomal dominant1 test
Pseudohypoaldosteronism type 1 autosomal recessive1 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoparathyroidism type 1B1 test
Pulmonary Surfactant Metabolism Dysfunction3 tests
Pulmonary alveolar proteinosis2 tests
Pulmonary fibrosis3 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 13 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 23 tests
Pulmonary veno-occlusive disease2 tests
Raine syndrome1 test
Renal coloboma syndrome2 tests
Renal dysplasia1 test
Renal tubular acidosis with progressive nerve deafness1 test
Renal tubular acidosis, distal, autosomal dominant1 test
Renal tubular acidosis, distal, autosomal recessive1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Rippling muscle disease1 test
Scapuloperoneal myopathy, MYH7-related3 tests
Senior-Loken syndrome 51 test
Surfactant metabolism dysfunction, pulmonary, 13 tests
Surfactant metabolism dysfunction, pulmonary, 23 tests
Surfactant metabolism dysfunction, pulmonary, 33 tests
Surfactant metabolism dysfunction, pulmonary, 43 tests
Surfactant metabolism dysfunction, pulmonary, 51 test
Tuberous sclerosis 14 tests
Tuberous sclerosis 24 tests
Tumoral calcinosis, familial, hyperphosphatemic1 test
Tyrosinemia type I1 test
Upshaw-Schulman syndrome1 test
Usher syndrome1 test
Ventricular tachycardia, catecholaminergic polymorphic, 22 tests
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness2 tests
Vitamin D-dependent rickets, type 21 test
WFS1-Related Disorders2 tests
Waardenburg syndrome1 test
Wilms tumor 11 test
Wolff-Parkinson-White pattern3 tests
Wolfram syndrome1 test
Wolfram-like syndrome, autosomal dominant1 test
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