Ambry Genetics

Summary of submissions to ClinVar

Total submissions: 72598

Gene

GeneSubmissionsLast Updated
A4GNT1Oct 9, 2020
AAAS1Oct 9, 2020
AARS11Oct 9, 2020
AARS24Oct 9, 2020
ABCA11Oct 9, 2020
ABCA123Oct 9, 2020
ABCA49Oct 9, 2020
ABCA51Oct 9, 2020
ABCB111Oct 9, 2020
ABCB71Oct 9, 2020
ABCC21Oct 9, 2020
ABCC82Oct 9, 2020
ABCC939Oct 9, 2020
ABCD128Oct 9, 2020
ABL11Oct 9, 2020
ABL22Oct 9, 2020
ACADVL2Oct 9, 2020
ACAN8Oct 9, 2020
ACAT11Oct 9, 2020
ACO24Oct 9, 2020
ACP52Oct 9, 2020
ACSL49Oct 9, 2020
ACTA13Oct 9, 2020
ACTA230Feb 26, 2020
ACTA2-AS112Feb 26, 2020
ACTB15Oct 9, 2020
ACTC112Oct 9, 2020
ACTG17Oct 9, 2020
ACTG24Oct 9, 2020
ACTN13Oct 9, 2020
ACTN265Oct 9, 2020
ACVR12Oct 9, 2020
ADAM172Oct 9, 2020
ADAMTS31Oct 9, 2020
ADAR4Oct 9, 2020
ADCY57Oct 9, 2020
ADGRG12Oct 9, 2020
ADGRL11Oct 9, 2020
ADGRL1-AS11Oct 9, 2020
ADGRV12Oct 9, 2020
ADNP47Oct 9, 2020
ADSL2Oct 9, 2020
AFF212Oct 9, 2020
AFF41Oct 9, 2020
AFG3L22Oct 9, 2020
AGA1Oct 9, 2020
AGK2Oct 9, 2020
AGL2Oct 9, 2020
AGO11Oct 9, 2020
AGTR23Feb 26, 2020
AHCY6Oct 9, 2020
AHDC17Oct 9, 2020
AIFM12Feb 8, 2018
AIMP25Oct 9, 2020
AIP149Feb 26, 2020
AK21Mar 9, 2020
AKAP9190Feb 26, 2020
AKT21Oct 9, 2020
AKT32Oct 9, 2020
ALDH18A15Oct 9, 2020
ALDH5A14Oct 9, 2020
ALDH7A127Oct 9, 2020
ALG12Oct 9, 2020
ALG1328Oct 9, 2020
ALG33Oct 9, 2020
ALK160Feb 26, 2020
ALMS11Oct 9, 2020
ALPL2Oct 9, 2020
ALS22Oct 9, 2020
ALX41Oct 9, 2020
AMELX1Oct 9, 2020
AMER12Oct 9, 2020
AMPD23Oct 9, 2020
AMT2Oct 9, 2020
ANAPC151Feb 26, 2020
ANG1Oct 9, 2020
ANK2204Oct 9, 2020
ANK31Oct 9, 2020
ANKLE21Oct 9, 2020
ANKRD121Feb 26, 2020
ANKRD11186Oct 9, 2020
ANO32Oct 9, 2020
ANO52Oct 9, 2020
ANOS11Oct 9, 2020
AOPEP158Feb 26, 2020
AP1S22Feb 26, 2020
AP4B137Oct 9, 2020
AP4B1-AS128Oct 9, 2020
AP4M11Oct 9, 2020
AP4S13Oct 9, 2020
APAF12Oct 9, 2020
APC2819Feb 26, 2020
APOB1Oct 9, 2020
APP1Oct 9, 2020
AR1Oct 9, 2020
ARFGEF21Oct 9, 2020
ARHGAP11A1Feb 26, 2020
ARHGAP11A-SCG51Feb 26, 2020
ARHGAP61Oct 9, 2020
ARHGEF64Feb 26, 2020
ARHGEF921Oct 9, 2020
ARID1A9Oct 9, 2020
ARID1B187Oct 9, 2020
ARID27Oct 9, 2020
ARSA5Oct 9, 2020
ARSB2Oct 9, 2020
ARSL2Oct 9, 2020
ARV11Oct 9, 2020
ARX34Oct 9, 2020
ASCC12Oct 9, 2020
ASH1L6Oct 9, 2020
ASNS6Oct 9, 2020
ASPM16Oct 9, 2020
ASXL18Oct 9, 2020
ASXL21Oct 9, 2020
ASXL312Oct 9, 2020
ATAD3A2Oct 9, 2020
ATL13Oct 9, 2020
ATM4081Oct 9, 2020
ATN12Oct 9, 2020
ATP13A262Oct 9, 2020
ATP1A236Oct 9, 2020
ATP1A312Oct 9, 2020
ATP2B32Oct 9, 2020
ATP6AP24Feb 26, 2020
ATP6V0A11Oct 9, 2020
ATP6V0A42Oct 9, 2020
ATP6V1A5Oct 9, 2020
ATP6V1B13Oct 9, 2020
ATP7A31Oct 9, 2020
ATP7B4Oct 9, 2020
ATP8A22Oct 9, 2020
ATP8B11Oct 9, 2020
ATRIP1Oct 9, 2020
ATRIP-TREX11Oct 9, 2020
ATRX63Oct 9, 2020
ATXN7L3-AS11Oct 9, 2020
AUH1Oct 9, 2020
AUTS29Oct 9, 2020
AVPR22Oct 9, 2020
AXIN2226Oct 9, 2020
B3GALNT23Oct 9, 2020
B3GALT62Oct 9, 2020
B3GLCT1Oct 9, 2020
B4GALNT11Oct 9, 2020
BAG343Feb 26, 2020
BAP1320Oct 9, 2020
BARD11125Feb 26, 2020
BASP11Oct 9, 2020
BAX1Oct 9, 2020
BAZ2B1Oct 9, 2020
BBS11Oct 9, 2020
BBS106Oct 9, 2020
BBS21Oct 9, 2020
BBS72Oct 9, 2020
BBS91Oct 9, 2020
BCAP312Oct 9, 2020
BCL11A7Oct 9, 2020
BCL11B6Oct 9, 2020
BCOR12Oct 9, 2020
BCS1L3Oct 9, 2020
BDNF1Oct 9, 2020
BDNF-AS1Oct 9, 2020
BDNF-AS11Oct 9, 2020
BICD25Oct 9, 2020
BIVM-ERCC51Oct 9, 2020
BLM534Feb 26, 2020
BMP22Oct 9, 2020
BMP41Oct 9, 2020
BMP72Oct 9, 2020
BMPR1A467Feb 26, 2020
BPTF4Oct 9, 2020
BRAF12Oct 9, 2020
BRAT16Oct 9, 2020
BRCA12988Feb 26, 2020
BRCA25283Oct 9, 2020
BRD41Oct 9, 2020
BRF11Oct 9, 2020
BRIP11354Feb 26, 2020
BRPF16Oct 9, 2020
BRSK21Oct 9, 2020
BRWD317Oct 9, 2020
BSCL22Oct 9, 2020
BTD5Oct 9, 2020
C10orf1051Oct 9, 2020
C11orf651548Oct 9, 2020
C12orf601Oct 9, 2020
CA88Feb 26, 2020
CACNA1A144Oct 9, 2020
CACNA1C207Oct 9, 2020
CACNA1C-AS182Feb 26, 2020
CACNA1C-AS21Feb 26, 2020
CACNA1D2Oct 9, 2020
CACNA1E10Oct 9, 2020
CACNA1F1Oct 9, 2020
CACNA1G3Oct 9, 2020
CACNA2D141Feb 26, 2020
CACNA2D1-AS13Feb 26, 2020
CACNA2D21Oct 9, 2020
CACNB247Feb 26, 2020
CAD2Oct 9, 2020
CALM14Feb 26, 2020
CALM21Oct 9, 2020
CALR310Feb 26, 2020
CAMK2A1Oct 9, 2020
CAMK2B6Oct 9, 2020
CAMTA14Oct 9, 2020
CANT12Oct 9, 2020
CAPN102Oct 9, 2020
CAPN32Oct 9, 2020
CAPN51Oct 9, 2020
CARS26Oct 9, 2020
CASD11Oct 9, 2020
CASK26Oct 9, 2020
CASP21Oct 9, 2020
CASQ224Feb 26, 2020
CASR97Oct 9, 2020
CAV11Apr 8, 2016
CAV324Feb 26, 2020
CBL8Oct 9, 2020
CBS73Feb 26, 2020
CC2D1A58Oct 9, 2020
CC2D2A7Oct 9, 2020
CCDC1601Oct 9, 2020
CCDC88C2Oct 9, 2020
CCN62Oct 9, 2020
CCND24Oct 9, 2020
CCNF1Feb 26, 2020
CCNH1Oct 9, 2020
CD40LG1Oct 9, 2020
CDC423Oct 9, 2020
CDC42BPB1Oct 9, 2020
CDC71Oct 9, 2020
CDC7332Oct 9, 2020
CDH11128Oct 9, 2020
CDH239Oct 9, 2020
CDK101Oct 9, 2020
CDK136Oct 9, 2020
CDK4224Feb 26, 2020
CDKL537Oct 9, 2020
CDKN1B140Feb 26, 2020
CDKN1C1Oct 9, 2020
CDKN2A301Oct 9, 2020
CDKN2A-DT1Feb 26, 2020
CDON1Feb 8, 2018
CEACAM161Oct 9, 2020
CEBPA1Oct 9, 2020
CEL1Oct 9, 2020
CELF41Oct 9, 2020
CEP1352Oct 9, 2020
CEP1522Oct 9, 2020
CEP2905Oct 9, 2020
CEP551Oct 9, 2020
CEP632Oct 9, 2020
CEP85L4Feb 26, 2020
CERS12Oct 9, 2020
CERT12Oct 9, 2020
CFTR201Oct 9, 2020
CFTR-AS125Oct 9, 2020
CHAMP15Oct 9, 2020
CHD285Oct 9, 2020
CHD310Oct 9, 2020
CHD45Oct 9, 2020
CHD7154Oct 9, 2020
CHD885Oct 9, 2020
CHEK2988Oct 9, 2020
CHMP1A1Oct 9, 2020
CHRNA11Oct 9, 2020
CHRNA229Feb 26, 2020
CHRNA460Oct 9, 2020
CHRNB218Oct 9, 2020
CHRNG3Oct 9, 2020
CHSY12Oct 9, 2020
CIC6Oct 9, 2020
CIT2Oct 9, 2020
CIZ14Oct 9, 2020
CLCN12Oct 9, 2020
CLCN32Oct 9, 2020
CLCN46Oct 9, 2020
CLCN52Oct 9, 2020
CLCN72Oct 9, 2020
CLN322Feb 26, 2020
CLN526Feb 26, 2020
CLN616Oct 9, 2020
CLN820Oct 9, 2020
CLP11Oct 9, 2020
CLPB1Oct 9, 2020
CLTC11Oct 9, 2020
CNGB31Feb 8, 2018
CNOT32Oct 9, 2020
CNTNAP11Oct 9, 2020
CNTNAP288Oct 9, 2020
COG41Oct 9, 2020
COL11A13Oct 9, 2020
COL11A22Oct 9, 2020
COL12A12Oct 9, 2020
COL1A13Oct 9, 2020
COL1A210Oct 9, 2020
COL24A11Oct 9, 2020
COL27A13Oct 9, 2020
COL2A112Oct 9, 2020
COL3A1135Oct 9, 2020
COL4A112Oct 9, 2020
COL4A22Oct 9, 2020
COL4A2-AS11Oct 9, 2020
COL4A32Oct 9, 2020
COL4A42Oct 9, 2020
COL4A51Oct 9, 2020
COL5A1199Oct 9, 2020
COL5A2104Oct 9, 2020
COL6A16Oct 9, 2020
COL6A24Oct 9, 2020
COL6A33Oct 9, 2020
COL7A15Oct 9, 2020
COL9A11Oct 9, 2020
COL9A21Oct 9, 2020
COL9A32Oct 9, 2020
COMP1Oct 9, 2020
COMT2Feb 26, 2020
COQ42Oct 9, 2020
COQ8A4Oct 9, 2020
COQ8B2Oct 9, 2020
CP1Oct 9, 2020
CPA146Feb 26, 2020
CPLANE16Oct 9, 2020
CPS13Oct 9, 2020
CPT1A1Oct 9, 2020
CPT21Feb 8, 2018
CRB12Oct 9, 2020
CREBBP123Oct 9, 2020
CRH10Feb 26, 2020
CRYAA1Oct 9, 2020
CRYAB9Feb 26, 2020
CRYBA11Oct 9, 2020
CRYBB23Oct 9, 2020
CSF1R1Oct 9, 2020
CSNK2A18Oct 9, 2020
CSNK2B8Oct 9, 2020
CSRP319Feb 26, 2020
CSTB7Oct 9, 2020
CTBP11Oct 9, 2020
CTBP1-AS1Oct 9, 2020
CTCF21Oct 9, 2020
CTLA42Oct 9, 2020
CTNNA1123Feb 26, 2020
CTNNB119Oct 9, 2020
CTNND25Oct 9, 2020
CTNS1Oct 9, 2020
CTRC34Feb 26, 2020
CTSD29Feb 26, 2020
CTSF30Feb 26, 2020
CTSK1Oct 9, 2020
CUBN2Oct 9, 2020
CUL33Oct 9, 2020
CUL4B11Oct 9, 2020
CUL73Oct 9, 2020
CUX13Oct 9, 2020
CYBB1Oct 9, 2020
CYFIP24Oct 9, 2020
CYP21A23Oct 9, 2020
CYP27B11Oct 9, 2020
CYP2U11Oct 9, 2020
CYP2U1-AS11Oct 9, 2020
CYP4V21Oct 9, 2020
CYP7B11Oct 9, 2020
CZ1P-ASNS6Oct 9, 2020
DARS22Oct 9, 2020
DCC2Oct 9, 2020
DCHS12Oct 9, 2020
DCLRE1B2Feb 26, 2020
DCX7Oct 9, 2020
DDX111Oct 9, 2020
DDX3X38Oct 9, 2020
DEAF18Oct 9, 2020
DEGS12Oct 9, 2020
DENND5A2Feb 8, 2018
DEPDC568Oct 9, 2020
DES37Feb 26, 2020
DGAT11Oct 9, 2020
DGCR61Oct 9, 2020
DGKZ1Oct 9, 2020
DGUOK1Feb 26, 2020
DHCR753Oct 9, 2020
DHDDS1Oct 9, 2020
DHFR26Feb 26, 2020
DHTKD12Oct 9, 2020
DHX305Oct 9, 2020
DIAPH11Oct 9, 2020
DICER11184Feb 26, 2020
DIPK1A2Oct 9, 2020
DKC11Feb 26, 2020
DLAT1Oct 9, 2020
DLD2Oct 9, 2020
DLG314Oct 9, 2020
DLG41Oct 9, 2020
DLGAP11Oct 9, 2020
DLL14Oct 9, 2020
DLL41Oct 9, 2020
DMD138Oct 9, 2020
DNA21Oct 9, 2020
DNAAF32Feb 26, 2020
DNAH112Oct 9, 2020
DNAH59Oct 9, 2020
DNAI11Oct 9, 2020
DNAJC211Oct 9, 2020
DNAJC31Oct 9, 2020
DNAJC59Feb 26, 2020
DNM139Oct 9, 2020
DNM1L3Oct 9, 2020
DNMT3A13Oct 9, 2020
DOCK12Feb 8, 2018
DOCK32Oct 9, 2020
DOCK62Oct 9, 2020
DOCK72Oct 9, 2020
DOCK83Oct 9, 2020
DOCK8-AS11Oct 9, 2020
DOK72Oct 9, 2020
DONSON3Oct 9, 2020
DOT1L1Oct 9, 2020
DPAGT12Oct 9, 2020
DPF26Oct 9, 2020
DPH12Oct 9, 2020
DPYD3Oct 9, 2020
DPYSL21Oct 9, 2020
DSC268Oct 9, 2020
DSCAM3Oct 9, 2020
DSCAS4Feb 26, 2020
DSE3Oct 9, 2020
DSG280Oct 9, 2020
DSG2-AS129Oct 9, 2020
DSP182Feb 26, 2020
DUOX23Oct 9, 2020
DUSP295Oct 9, 2020
DVL11Oct 9, 2020
DYNC1H1151Oct 9, 2020
DYNC2H13Oct 9, 2020
DYRK1A33Oct 9, 2020
DYSF3Oct 9, 2020
EARS24Oct 9, 2020
EBF315Oct 9, 2020
ECEL15Oct 9, 2020
ECHS16Oct 9, 2020
EDA3Oct 9, 2020
EDAR3Oct 9, 2020
EDN31Apr 8, 2016
EDNRA1Oct 9, 2020
EEF1A227Oct 9, 2020
EEF1D1Oct 9, 2020
EFL12Oct 9, 2020
EFNB12Oct 9, 2020
EFTUD211Oct 9, 2020
EGFR1Feb 26, 2020
EGFR-AS11Feb 26, 2020
EGLN11Nov 14, 2017
EGR21Oct 9, 2020
EHMT175Oct 9, 2020
EIF2AK11Oct 9, 2020
EIF2AK21Oct 9, 2020
EIF2B51Oct 9, 2020
EIF2S31Oct 9, 2020
EIF3F1Oct 9, 2020
ELN3Oct 9, 2020
ELOVL51Oct 9, 2020
ELP22Oct 9, 2020
EMC14Oct 9, 2020
EMC1-AS13Oct 9, 2020
EMD7Feb 26, 2020
EMILIN11Oct 9, 2020
ENG1Oct 9, 2020
EP30018Oct 9, 2020
EPCAM18Feb 26, 2020
EPG55Oct 9, 2020
EPM2A23Feb 26, 2020
EPM2AIP113Feb 26, 2020
ERBB21Oct 9, 2020
ERBB41Oct 9, 2020
ERCC22Oct 9, 2020
ERCC51Oct 9, 2020
ERCC67Oct 9, 2020
ERCC6-PGBD32Oct 9, 2020
ERCC81Oct 9, 2020
ERF5Oct 9, 2020
ESPN1Apr 8, 2016
ETFB1Feb 26, 2020
ETFDH2Oct 9, 2020
ETV64Oct 9, 2020
EVC21Oct 9, 2020
EXOC6B1Oct 9, 2020
EXOSC31Oct 9, 2020
EXT12Oct 9, 2020
EXT21Oct 9, 2020
EYA421Oct 9, 2020
EZH21Oct 9, 2020
F111Oct 9, 2020
F21Oct 9, 2020
F82Oct 9, 2020
F92Oct 9, 2020
FA2H2Oct 9, 2020
FAM111A1Oct 9, 2020
FAM161A1Oct 9, 2020
FAM20A7Feb 26, 2020
FANCA1Oct 9, 2020
FANCB6Oct 9, 2020
FANCC259Feb 26, 2020
FANCD22Oct 9, 2020
FANCD2OS1Oct 9, 2020
FANCI3Feb 26, 2020
FANCL1Oct 9, 2020
FARS22Oct 9, 2020
FAS1Oct 9, 2020
FAT44Oct 9, 2020
FBN1413Oct 9, 2020
FBN2266Oct 9, 2020
FBXL313Feb 26, 2020
FBXL46Oct 9, 2020
FBXO112Oct 9, 2020
FBXO281Oct 9, 2020
FBXO30-DT11Feb 26, 2020
FDX21Oct 9, 2020
FDXR8Oct 9, 2020
FGD131Oct 9, 2020
FGFR11Oct 9, 2020
FGFR25Oct 9, 2020
FGFR37Oct 9, 2020
FGG1Oct 9, 2020
FH310Oct 9, 2020
FHL12Oct 9, 2020
FIG42Oct 9, 2020
FKBP102Oct 9, 2020
FKBP143Oct 9, 2020
FKBP14-AS13Oct 9, 2020
FKTN22Feb 26, 2020
FLCN363Feb 26, 2020
FLG3Oct 9, 2020
FLNA266Oct 9, 2020
FLNC4Oct 9, 2020
FLT41Oct 9, 2020
FLVCR13Oct 9, 2020
FMO31Oct 9, 2020
FMR110Oct 9, 2020
FN12Oct 9, 2020
FOLR114Oct 9, 2020
FOXG147Oct 9, 2020
FOXP133Oct 9, 2020
FOXP224Oct 9, 2020
FOXP31Oct 9, 2020
FOXRED11Oct 9, 2020
FREM12Oct 9, 2020
FRMD71Oct 9, 2020
FRMPD49Oct 9, 2020
FRRS1L1Oct 9, 2020
FTSJ111Oct 9, 2020
FUS1Oct 9, 2020
FUT81Oct 9, 2020
FXN10Feb 26, 2020
G6PC12Oct 9, 2020
G6PD9Oct 9, 2020
GAA3Oct 9, 2020
GABBR25Oct 9, 2020
GABRA119Oct 9, 2020
GABRA34Oct 9, 2020
GABRB22Oct 9, 2020
GABRB314Oct 9, 2020
GABRG221Oct 9, 2020
GALC3Oct 9, 2020
GALNS5Oct 9, 2020
GALNT12272Feb 26, 2020
GAMT21Feb 26, 2020
GAN2Oct 9, 2020
GAREM21Oct 9, 2020
GARS11Oct 9, 2020
GATA31Oct 9, 2020
GATA429Oct 9, 2020
GATA52Oct 9, 2020
GATAD18Oct 9, 2020
GATAD2B6Oct 9, 2020
GATM15Oct 9, 2020
GBA1Oct 9, 2020
GBA21Oct 9, 2020
GBE14Oct 9, 2020
GCH12Oct 9, 2020
GCK4Oct 9, 2020
GCM21Oct 9, 2020
GDAP12Oct 9, 2020
GDF12Oct 9, 2020
GDI19Oct 9, 2020
GFAP5Oct 9, 2020
GFER2Oct 9, 2020
GFI1B1Oct 9, 2020
GFPT12Oct 9, 2020
GH-LCR3Oct 9, 2020
GHRHR1Oct 9, 2020
GHSR4Oct 9, 2020
GJA14Oct 9, 2020
GJA82Oct 9, 2020
GJB15Oct 9, 2020
GJB25Oct 9, 2020
GJB61Oct 9, 2020
GJC23Oct 9, 2020
GK5Oct 9, 2020
GK-AS11Feb 26, 2020
GLA16Feb 26, 2020
GLB14Oct 9, 2020
GLDC2Oct 9, 2020
GLE12Oct 9, 2020
GLI26Oct 9, 2020
GLI34Oct 9, 2020
GMPPB7Oct 9, 2020
GNAO123Oct 9, 2020
GNAS9Oct 9, 2020
GNAS-AS12Oct 9, 2020
GNB17Oct 9, 2020
GNB51Oct 9, 2020
GNE1Oct 9, 2020
GNG31Oct 9, 2020
GNPAT1Oct 9, 2020
GNPTAB2Oct 9, 2020
GOSR29Feb 26, 2020
GPC311Oct 9, 2020
GPC41Oct 9, 2020
GPD11Oct 9, 2020
GPD1L26Feb 26, 2020
GPR1431Oct 9, 2020
GPR191Feb 26, 2020
GPT21Oct 9, 2020
GREM12Feb 26, 2020
GRHL31Feb 8, 2018
GRIA23Oct 9, 2020
GRIA316Oct 9, 2020
GRIA41Oct 9, 2020
GRID22Oct 9, 2020
GRIK21Oct 9, 2020
GRIN139Oct 9, 2020
GRIN2A58Oct 9, 2020
GRIN2B76Oct 9, 2020
GRIN2D5Oct 9, 2020
GRM12Oct 9, 2020
GRN37Feb 26, 2020
GUCY2C1Oct 9, 2020
GUCY2D2Oct 9, 2020
GYS11Oct 9, 2020
GYS21Oct 9, 2020
H1-45Oct 9, 2020
H3-3A9Oct 9, 2020
H3-3B3Oct 9, 2020
HADHA3Oct 9, 2020
HARS12Oct 9, 2020
HBB2Oct 9, 2020
HCCS2Feb 26, 2020
HCFC110Oct 9, 2020
HCN136Oct 9, 2020
HCN22Oct 9, 2020
HCN478Oct 9, 2020
HDAC11Oct 9, 2020
HDAC21Oct 9, 2020
HDAC32Oct 9, 2020
HDAC41Oct 9, 2020
HDAC811Oct 9, 2020
HECW213Oct 9, 2020
HERC14Oct 9, 2020
HERC215Oct 9, 2020
HESX11Oct 9, 2020
HEXA4Oct 9, 2020
HEXB1Oct 9, 2020
HHAT1Feb 8, 2018
HIBCH4Oct 9, 2020
HID12Oct 9, 2020
HIKESHI1Oct 9, 2020
HIVEP213Oct 9, 2020
HK13Oct 9, 2020
HMBS1Oct 9, 2020
HMGCL2Oct 9, 2020
HNF1B1Oct 9, 2020
HNF4A2Oct 9, 2020
HNRNPH11Oct 9, 2020
HNRNPH22Oct 9, 2020
HNRNPK6Oct 9, 2020
HNRNPR1Oct 9, 2020
HNRNPU21Oct 9, 2020
HNRNPUL2-BSCL22Oct 9, 2020
HOXA116Feb 26, 2020
HOXA22Feb 26, 2020
HOXB13271Feb 26, 2020
HOXD131Oct 9, 2020
HPDL1Feb 26, 2020
HPRT16Oct 9, 2020
HPS11Oct 9, 2020
HPS41Oct 9, 2020
HRAS2Oct 9, 2020
HSD17B102Oct 9, 2020
HSD17B34Oct 9, 2020
HSD17B3-AS12Oct 9, 2020
HSPB11Oct 9, 2020
HSPB81Oct 9, 2020
HTR2C1Oct 9, 2020
HTT2Oct 9, 2020
HUWE176Oct 9, 2020
IAH11Oct 9, 2020
IARS12Oct 9, 2020
IARS22Oct 9, 2020
IBA572Oct 9, 2020
ICOSLG1Oct 9, 2020
IDH21Oct 9, 2020
IDS20Oct 9, 2020
IDUA5Oct 9, 2020
IFT1722Oct 9, 2020
IGF1R7Oct 9, 2020
IGHMBP24Oct 9, 2020
IKBKG1Oct 9, 2020
IL10RB1Oct 9, 2020
IL1RAPL13Oct 9, 2020
IL21R2Oct 9, 2020
IL21R-AS11Oct 9, 2020
IL2RG2Oct 9, 2020
ILK7Feb 26, 2020
INPP5E3Oct 9, 2020
INSL31Oct 9, 2020
INTS14Oct 9, 2020
IQCE1Oct 9, 2020
IQSEC237Oct 9, 2020
IRAK1BP14Oct 9, 2020
IRF2BPL2Oct 9, 2020
ITGA112Feb 26, 2020
ITGB22Oct 9, 2020
ITK1Oct 9, 2020
ITPR115Oct 9, 2020
ITSN12Oct 9, 2020
IVD3Oct 9, 2020
JAG132Oct 9, 2020
JAK11Apr 8, 2016
JPH259Oct 9, 2020
JUP66Feb 26, 2020
KANSL19Oct 9, 2020
KARS15Oct 9, 2020
KAT6A66Oct 9, 2020
KAT6B7Oct 9, 2020
KATNAL224Oct 9, 2020
KCNA14Oct 9, 2020
KCNA213Oct 9, 2020
KCNAB21Oct 9, 2020
KCNB15Oct 9, 2020
KCNC115Oct 9, 2020
KCNC32Oct 9, 2020
KCND334Oct 9, 2020
KCNE122Feb 26, 2020
KCNE29Feb 26, 2020
KCNE37Feb 26, 2020
KCNH15Oct 9, 2020
KCNH2149Oct 9, 2020
KCNJ1014Feb 26, 2020
KCNJ220Feb 26, 2020
KCNJ57Feb 26, 2020
KCNJ812Feb 26, 2020
KCNK93Oct 9, 2020
KCNMA11Oct 9, 2020
KCNN22Oct 9, 2020
KCNQ1126Oct 9, 2020
KCNQ1-AS113Feb 26, 2020
KCNQ1OT15Feb 26, 2020
KCNQ265Oct 9, 2020
KCNQ332Oct 9, 2020
KCNQ42Oct 9, 2020
KCNQ54Oct 9, 2020
KCNT188Oct 9, 2020
KCNT23Oct 9, 2020
KCTD716Oct 9, 2020
KDM1A1Oct 9, 2020
KDM3B3Oct 9, 2020
KDM5B7Oct 9, 2020
KDM5C30Oct 9, 2020
KDM6A7Oct 9, 2020
KDM6B4Oct 9, 2020
KIAA11092Oct 9, 2020
KIDINS2202Oct 9, 2020
KIF112Oct 9, 2020
KIF1A83Oct 9, 2020
KIF223Oct 9, 2020
KIF2A1Oct 9, 2020
KIF5A1Oct 9, 2020
KIF71Oct 9, 2020
KIT146Feb 26, 2020
KLF71Oct 9, 2020
KLHL31Oct 9, 2020
KLHL74Oct 9, 2020
KLHL91Oct 9, 2020
KLK42Oct 9, 2020
KLLN94Feb 26, 2020
KMT2A40Oct 9, 2020
KMT2B10Oct 9, 2020
KMT2C2Oct 9, 2020
KMT2D32Oct 9, 2020
KMT2E11Oct 9, 2020
KMT5B6Oct 9, 2020
KRAS8Oct 9, 2020
KRT121Oct 9, 2020
KRT161Feb 26, 2020
KRT91Oct 9, 2020
L1CAM31Oct 9, 2020
L3MBTL11Oct 9, 2020
LAMA13Oct 9, 2020
LAMA29Oct 9, 2020
LAMA463Oct 9, 2020
LAMA4-AS14Feb 26, 2020
LAMC32Oct 9, 2020
LAMP231Feb 26, 2020
LAS1L2Oct 9, 2020
LCA52Oct 9, 2020
LDB370Feb 26, 2020
LDLR3Oct 9, 2020
LGI110Oct 9, 2020
LHX91Oct 9, 2020
LIG44Oct 9, 2020
LINS145Oct 9, 2020
LIPT22Feb 26, 2020
LMBRD11Feb 26, 2020
LMNA78Oct 9, 2020
LMX1B1Oct 9, 2020
LOC1001305874Feb 26, 2020
LOC1002879441Oct 9, 2020
LOC1005063216Feb 26, 2020
LOC100507346125Oct 9, 2020
LOC10144820234Oct 9, 2020
LOC10192705523Feb 26, 2020
LOC10192817412Oct 9, 2020
LOC1019290892Oct 9, 2020
LOC10272405856Oct 9, 2020
LOC1027243781Oct 9, 2020
LOC1027244041Oct 9, 2020
LOC1053710491Oct 9, 2020
LOC1053715665Oct 9, 2020
LOC1053720681Oct 9, 2020
LOC1053722732Oct 9, 2020
LOC10605010213Oct 9, 2020
LOC1060990622Oct 9, 2020
LOC1066279811Oct 9, 2020
LOC1067366148Feb 26, 2020
LOC1067808003Oct 9, 2020
LOC1070328251Feb 26, 2020
LOC1071335102Oct 9, 2020
LOC1073033381Oct 9, 2020
LOC10730334094Feb 26, 2020
LOC1073723151Oct 9, 2020
LOC10798803212Oct 9, 2020
LOC1080218463Oct 9, 2020
LOC1082811343Feb 26, 2020
LOC10961063113Oct 9, 2020
LOC11001121611Oct 9, 2020
LOC11012126917Feb 26, 2020
LOC1101214868Feb 26, 2020
LOC1116744631Feb 26, 2020
LOC11167447219Feb 26, 2020
LOC1116744756Oct 9, 2020
LOC11167447711Feb 26, 2020
LOC1117217051Feb 26, 2020
LOC11181196517Feb 26, 2020
LOC1122679831Oct 9, 2020
LOC1136641063Feb 26, 2020
LOC1139399448Oct 9, 2020
LOC1148034704Feb 26, 2020
LOC1148278507Feb 26, 2020
LOC11482785120Feb 26, 2020
LOC11530816129Feb 26, 2020
LOC1171255871Oct 9, 2020
LONP11Oct 9, 2020
LOX3Oct 9, 2020
LOXHD12Oct 9, 2020
LPL3Oct 9, 2020
LRFN52Feb 26, 2020
LRP26Oct 9, 2020
LRP57Oct 9, 2020
LRPPRC2Oct 9, 2020
LRRC37A29Feb 26, 2020
LRRC562Oct 9, 2020
LRRC61Oct 9, 2020
LRRK21Oct 9, 2020
LRSAM12Oct 9, 2020
LRTOMT1Feb 26, 2020
LSS2Oct 9, 2020
LZTR16Oct 9, 2020
MADD1Oct 9, 2020
MAF2Oct 9, 2020
MAFB1Oct 9, 2020
MAGEL26Oct 9, 2020
MAGT11Oct 9, 2020
MAN1B159Oct 9, 2020
MAN2B14Oct 9, 2020
MANBA1Oct 9, 2020
MAOA11Oct 9, 2020
MAP1A1Oct 9, 2020
MAP1B1Oct 9, 2020
MAP2K15Oct 9, 2020
MAP3K12Oct 9, 2020
MAP3K71Oct 9, 2020
MAPK11Oct 9, 2020
MAPK8IP37Oct 9, 2020
MAPT1Oct 9, 2020
MARCKS1Oct 9, 2020
MAST12Oct 9, 2020
MAX57Feb 26, 2020
MBD42Oct 9, 2020
MBD540Oct 9, 2020
MBOAT71Oct 9, 2020
MBTPS21Oct 9, 2020
MCOLN12Oct 9, 2020
MEA18Oct 9, 2020
MECP274Oct 9, 2020
MED12110Oct 9, 2020
MED12L3Oct 9, 2020
MED134Oct 9, 2020
MED13L22Oct 9, 2020
MED2318Feb 26, 2020
MEF2C11Oct 9, 2020
MEFV2Oct 9, 2020
MEIS22Oct 9, 2020
MEN1353Feb 26, 2020
MERTK1Oct 9, 2020
MET447Feb 26, 2020
METTL238Oct 9, 2020
MFF-DT2Oct 9, 2020
MFN24Oct 9, 2020
MFSD828Oct 9, 2020
MHRT35Oct 9, 2020
MICU12Oct 9, 2020
MID114Oct 9, 2020
MIR46731Feb 26, 2020
MIR67591Feb 26, 2020
MIR67661Feb 26, 2020
MITF1Feb 26, 2020
MKKS5Oct 9, 2020
MLH11161Jul 28, 2020
MMACHC1Oct 9, 2020
MME1Oct 9, 2020
MN11Oct 9, 2020
MNX11Oct 9, 2020
MORC25Oct 9, 2020
MPZ3Oct 9, 2020
MRAS2Oct 9, 2020
MRE11790Feb 26, 2020
MRPS222Oct 9, 2020
MRPS231Oct 9, 2020
MSH21732Oct 9, 2020
MSH3240Feb 26, 2020
MSH62397Oct 9, 2020
MSL34Oct 9, 2020
MSMO12Oct 9, 2020
MSTO14Oct 9, 2020
MTFMT1Oct 9, 2020
MTIF22Oct 9, 2020
MTM11Oct 9, 2020
MTOR6Oct 9, 2020
MTPAP1Oct 9, 2020
MTR1Feb 26, 2020
MTRR2Oct 9, 2020
MUTYH775Feb 26, 2020
MYBPC12Oct 9, 2020
MYBPC3250Oct 9, 2020
MYCN4Oct 9, 2020
MYEF21Oct 9, 2020
MYH101Oct 9, 2020
MYH11238Oct 9, 2020
MYH141Oct 9, 2020
MYH21Oct 9, 2020
MYH33Oct 9, 2020
MYH6193Oct 9, 2020
MYH7241Oct 9, 2020
MYH82Oct 9, 2020
MYHAS3Oct 9, 2020
MYL220Feb 26, 2020
MYL318Feb 26, 2020
MYLK164Oct 9, 2020
MYLK-AS113Feb 26, 2020
MYO15A11Oct 9, 2020
MYO1E1Oct 9, 2020
MYO62Oct 9, 2020
MYO7A5Oct 9, 2020
MYOM149Feb 26, 2020
MYORG2Oct 9, 2020
MYOT1Oct 9, 2020
MYOZ214Feb 26, 2020
MYPN99Feb 26, 2020
MYRF2Oct 9, 2020
MYT1L1Oct 9, 2020
NAA104Oct 9, 2020
NAA157Oct 9, 2020
NACC13Oct 9, 2020
NADSYN12Feb 26, 2020
NAGLU3Oct 9, 2020
NALCN10Oct 9, 2020
NARS21Oct 9, 2020
NBEA3Oct 9, 2020
NBN888Feb 26, 2020
NDE197Oct 9, 2020
NDP4Oct 9, 2020
NDP-AS14Oct 9, 2020
NDST12Oct 9, 2020
NDUFA14Oct 9, 2020
NDUFA103Oct 9, 2020
NDUFAF21Oct 9, 2020
NDUFAF53Oct 9, 2020
NDUFAF62Oct 9, 2020
NDUFB33Oct 9, 2020
NDUFS21Oct 9, 2020
NDUFS32Oct 9, 2020
NDUFS71Feb 26, 2020
NDUFV12Oct 9, 2020
NDUFV21Oct 9, 2020
NDUFV2-AS11Oct 9, 2020
NEB17Oct 9, 2020
NEBL18Feb 26, 2020
NEFH2Oct 9, 2020
NEFL2Oct 9, 2020
NEURL1B2Oct 9, 2020
NEXMIF53Oct 9, 2020
NEXN49Oct 9, 2020
NF12438Oct 9, 2020
NF2173Oct 9, 2020
NFASC1Oct 9, 2020
NFIA8Oct 9, 2020
NFIB1Oct 9, 2020
NFIX3Oct 9, 2020
NFKB11Oct 9, 2020
NGLY13Oct 9, 2020
NHLRC114Feb 26, 2020
NHS32Oct 9, 2020
NID11Oct 9, 2020
NIPBL52Oct 9, 2020
NKAP1Oct 9, 2020
NKX2-18Oct 9, 2020
NKX2-531Oct 9, 2020
NLGN314Oct 9, 2020
NLGN4X23Oct 9, 2020
NLRP31Oct 9, 2020
NMNAT22Oct 9, 2020
NNT1Oct 9, 2020
NOD21Oct 9, 2020
NODAL1Oct 9, 2020
NOG3Oct 9, 2020
NONO4Oct 9, 2020
NOTCH1287Oct 9, 2020
NOTCH21Feb 8, 2018
NOTCH33Oct 9, 2020
NPC16Oct 9, 2020
NPHP31Oct 9, 2020
NPHP3-ACAD113Oct 9, 2020
NPR22Oct 9, 2020
NPRL21Oct 9, 2020
NR2F14Oct 9, 2020
NR2F23Oct 9, 2020
NR4A21Oct 9, 2020
NRP21Oct 9, 2020
NRXN188Oct 9, 2020
NSD174Oct 9, 2020
NSD23Oct 9, 2020
NSUN236Oct 9, 2020
NSUN636Feb 26, 2020
NTF41Oct 9, 2020
NTHL1128Feb 26, 2020
NTRK13Oct 9, 2020
NTRK22Oct 9, 2020
NUBPL6Oct 9, 2020
NUS12Oct 9, 2020
OBI1-AS12Oct 9, 2020
OBSCN2Oct 9, 2020
OBSCN-AS11Apr 8, 2016
OCA25Oct 9, 2020
OCRL11Oct 9, 2020
ODAD31Oct 9, 2020
OFD131Oct 9, 2020
OGDHL2Feb 26, 2020
OGT2Oct 9, 2020
OLIG21Oct 9, 2020
OPA15Oct 9, 2020
OPHN115Oct 9, 2020
ORC12Oct 9, 2020
OSGEP4Oct 9, 2020
OSGIN28Feb 26, 2020
OTC10Oct 9, 2020
OTOA2Oct 9, 2020
OTOGL3Oct 9, 2020
OTUD6B1Oct 9, 2020
OTX21Oct 9, 2020
P2RY121Oct 9, 2020
PACS130Oct 9, 2020
PACS21Oct 9, 2020
PAFAH1B13Oct 9, 2020
PAH6Oct 9, 2020
PAK11Oct 9, 2020
PAK311Oct 9, 2020
PALB21653Feb 26, 2020
PANK22Oct 9, 2020
PARS23Oct 9, 2020
PAX21Oct 9, 2020
PAX61Oct 9, 2020
PAX93Oct 9, 2020
PBX12Oct 9, 2020
PCBP11Oct 9, 2020
PCDH151Oct 9, 2020
PCDH1940Oct 9, 2020
PCNT4Oct 9, 2020
PCYT1A1Oct 9, 2020
PDCD101Oct 9, 2020
PDE3A1Oct 9, 2020
PDE4D1Oct 9, 2020
PDE6A2Oct 9, 2020
PDGFRA187Feb 26, 2020
PDGFRB3Oct 9, 2020
PDHA117Oct 9, 2020
PDLIM311Feb 26, 2020
PDYN1Oct 9, 2020
PDYN-AS11Oct 9, 2020
PEX12Oct 9, 2020
PEX101Oct 9, 2020
PEX191Oct 9, 2020
PEX62Oct 9, 2020
PGAP11Oct 9, 2020
PGAP22Oct 9, 2020
PGAP32Oct 9, 2020
PGBD31Oct 9, 2020
PGK11Oct 9, 2020
PGM12Oct 9, 2020
PHEX1Oct 9, 2020
PHF21A3Oct 9, 2020
PHF65Oct 9, 2020
PHF821Oct 9, 2020
PHIP8Oct 9, 2020
PHKA22Oct 9, 2020
PHKA2-AS11Oct 9, 2020
PHOX2B101Oct 9, 2020
PHOX2B-AS114Feb 26, 2020
PIBF12Oct 9, 2020
PIEZO12Oct 9, 2020
PIEZO28Oct 9, 2020
PIGA12Oct 9, 2020
PIGM1Oct 9, 2020
PIGN37Oct 9, 2020
PIGQ2Oct 9, 2020
PIGT3Oct 9, 2020
PIGU1Oct 9, 2020
PIGV3Oct 9, 2020
PIK3CA5Oct 9, 2020
PIK3R14Oct 9, 2020
PIK3R21Oct 9, 2020
PITX22Oct 9, 2020
PKD111Oct 9, 2020
PKD22Oct 9, 2020
PKDCC2Oct 9, 2020
PKHD13Oct 9, 2020
PKP290Feb 26, 2020
PLA2G610Oct 9, 2020
PLAA1Oct 9, 2020
PLCB141Feb 26, 2020
PLCB42Oct 9, 2020
PLCG21Oct 9, 2020
PLD11Feb 26, 2020
PLEC6Oct 9, 2020
PLN4Feb 26, 2020
PLOD175Feb 26, 2020
PLP16Oct 9, 2020
PMM26Oct 9, 2020
PMP21Oct 9, 2020
PMP222Oct 9, 2020
PMPCA3Oct 9, 2020
PMPCB2Oct 9, 2020
PMS21226Oct 9, 2020
PNKP57Oct 9, 2020
PNPLA22Oct 9, 2020
PNPLA62Oct 9, 2020
PNPO8Feb 26, 2020
PNPT12Oct 9, 2020
POGZ55Oct 9, 2020
POLD1571Feb 26, 2020
POLE816Feb 26, 2020
POLG77Oct 9, 2020
POLH1Oct 9, 2020
POLR1A2Oct 9, 2020
POLR2A7Oct 9, 2020
POLR2F1Oct 9, 2020
POLR3B3Oct 9, 2020
POLR3H1Oct 9, 2020
POMC2Oct 9, 2020
POMGNT13Oct 9, 2020
PORCN7Oct 9, 2020
POT1208Feb 26, 2020
POU3F37Oct 9, 2020
POU4F12Oct 9, 2020
POU4F31Oct 9, 2020
PPARG1Oct 9, 2020
PPM1D10Oct 9, 2020
PPP1CB3Oct 9, 2020
PPP2R1A3Oct 9, 2020
PPP2R5D8Oct 9, 2020
PPP3CA2Oct 9, 2020
PPT114Oct 9, 2020
PQBP114Oct 9, 2020
PRDM161Oct 9, 2020
PREPL1Oct 9, 2020
PRF11Oct 9, 2020
PRG42Oct 9, 2020
PRICKLE127Feb 26, 2020
PRKAG235Oct 9, 2020
PRKAR1A87Feb 26, 2020
PRKCG2Oct 9, 2020
PRKG145Feb 26, 2020
PRMT74Oct 9, 2020
PRNP2Oct 9, 2020
PROC2Oct 9, 2020
PRODH2Oct 9, 2020
PROKR22Feb 8, 2018
PROP11Oct 9, 2020
PROS12Oct 9, 2020
PRPS15Oct 9, 2020
PRR122Oct 9, 2020
PRRT211Oct 9, 2020
PRSS142Feb 26, 2020
PRUNE13Oct 9, 2020
PSAP2Oct 9, 2020
PSMD121Oct 9, 2020
PSPH1Oct 9, 2020
PTCH1730Oct 9, 2020
PTCHD118Oct 9, 2020
PTCHD1-AS1Oct 9, 2020
PTEN684Oct 9, 2020
PTHLH1Feb 8, 2018
PTPN1140Oct 9, 2020
PTPRC1Oct 9, 2020
PUF609Oct 9, 2020
PURA34Oct 9, 2020
PUS72Oct 9, 2020
PYCR15Oct 9, 2020
PYGM2Oct 9, 2020
QARS12Oct 9, 2020
RAB231Oct 9, 2020
RAB33A2Feb 8, 2018
RAB39B4Feb 26, 2020
RAB3GAP12Oct 9, 2020
RAB3GAP21Oct 9, 2020
RAB9B6Oct 9, 2020
RAC12Oct 9, 2020
RAD2121Oct 9, 2020
RAD501389Feb 26, 2020
RAD511Oct 9, 2020
RAD51C497Feb 26, 2020
RAD51D450Oct 9, 2020
RAD51L3-RFFL450Oct 9, 2020
RAD54L2Oct 9, 2020
RAF140Oct 9, 2020
RAI1119Oct 9, 2020
RALA1Oct 9, 2020
RALGAPA11Oct 9, 2020
RANBP21Oct 9, 2020
RARA1Oct 9, 2020
RARB1Oct 9, 2020
RARS25Oct 9, 2020
RASA11Oct 9, 2020
RB1356Feb 26, 2020
RBFOX21Oct 9, 2020
RBM103Oct 9, 2020
RBM2071Feb 26, 2020
RBP41Oct 9, 2020
RBPJ1Oct 9, 2020
RECQL42Oct 9, 2020
REEP21Oct 9, 2020
RELN6Oct 9, 2020
RERE12Oct 9, 2020
REST1Oct 9, 2020
RET548Oct 9, 2020
RFXANK1Oct 9, 2020
RHOA1Oct 9, 2020
RHOBTB25Oct 9, 2020
RHOG1Oct 9, 2020
RICTOR1Oct 9, 2020
RIF13Oct 9, 2020
RIT14Oct 9, 2020
RMND12Oct 9, 2020
RNASE41Oct 9, 2020
RNASEH2A1Oct 9, 2020
RNF2132Oct 9, 2020
RNF213-AS12Oct 9, 2020
ROBO31Feb 26, 2020
RORA2Oct 9, 2020
RORA-AS12Oct 9, 2020
RORB3Oct 9, 2020
RP12Oct 9, 2020
RPGR1Oct 9, 2020
RPL105Oct 9, 2020
RPL111Oct 9, 2020
RPL36A-HNRNPH218Oct 9, 2020
RPL52Oct 9, 2020
RPS6KA322Oct 9, 2020
RPUSD32Apr 8, 2016
RRAS1Oct 9, 2020
RRAS21Oct 9, 2020
RS18Feb 26, 2020
RSPO41Oct 9, 2020
RSRC12Oct 9, 2020
RTN4IP11Oct 9, 2020
RYR132Oct 9, 2020
RYR2240Oct 9, 2020
RYR38Oct 9, 2020
S1PR21Oct 9, 2020
SACS5Oct 9, 2020
SALL11Oct 9, 2020
SAMD96Oct 9, 2020
SAMD9L1Oct 9, 2020
SAMHD11Oct 9, 2020
SAR1B1Oct 9, 2020
SASH11Oct 9, 2020
SASS62Oct 9, 2020
SATB11Oct 9, 2020
SATB231Oct 9, 2020
SBDS3Oct 9, 2020
SBF22Feb 26, 2020
SCAMP51Oct 9, 2020
SCARB216Feb 26, 2020
SCN10A1Feb 8, 2018
SCN1A88Oct 9, 2020
SCN1A-AS12Oct 9, 2020
SCN1B27Oct 9, 2020
SCN2A95Oct 9, 2020
SCN2B3Feb 26, 2020
SCN3A8Oct 9, 2020
SCN3B15Oct 9, 2020
SCN4A6Oct 9, 2020
SCN4B13Feb 26, 2020
SCN5A230Oct 9, 2020
SCN8A75Oct 9, 2020
SCN9A3Oct 9, 2020
SCNN1B1Oct 9, 2020
SCO22Oct 9, 2020
SCYL14Oct 9, 2020
SDHA414Feb 26, 2020
SDHAF283Feb 26, 2020
SDHB239Oct 9, 2020
SDHC90Feb 26, 2020
SDHD107Feb 26, 2020
SEC24D2Oct 9, 2020
SEMA6B2Oct 9, 2020
SEPSECS2Oct 9, 2020
SERPINA12Oct 9, 2020
SET1Feb 8, 2018
SETBP17Oct 9, 2020
SETD1A2Oct 9, 2020
SETD1B1Oct 9, 2020
SETD28Oct 9, 2020
SETD57Oct 9, 2020
SETX8Oct 9, 2020
SF3B45Oct 9, 2020
SFTA38Oct 9, 2020
SFTPA21Oct 9, 2020
SFTPC1Oct 9, 2020
SFXN41Oct 9, 2020
SGCB2Oct 9, 2020
SGCD5Feb 26, 2020
SGCE1Oct 9, 2020
SGMS21Oct 9, 2020
SGSH6Oct 9, 2020
SH2D1A1Oct 9, 2020
SH3TC21Oct 9, 2020
SHANK22Oct 9, 2020
SHANK385Oct 9, 2020
SHH1Oct 9, 2020
SHOC22Oct 9, 2020
SHROOM415Oct 9, 2020
SI2Oct 9, 2020
SIGMAR11Oct 9, 2020
SIK166Oct 9, 2020
SIN3A6Oct 9, 2020
SKI76Oct 9, 2020
SLC12A31Oct 9, 2020
SLC12A61Oct 9, 2020
SLC13A523Feb 26, 2020
SLC16A224Oct 9, 2020
SLC17A51Oct 9, 2020
SLC18A22Oct 9, 2020
SLC1A41Oct 9, 2020
SLC20A22Oct 9, 2020
SLC22A52Oct 9, 2020
SLC24A51Oct 9, 2020
SLC25A12Oct 9, 2020
SLC25A121Oct 9, 2020
SLC25A131Oct 9, 2020
SLC25A2225Feb 26, 2020
SLC25A261Feb 8, 2018
SLC25A41Oct 9, 2020
SLC26A11Oct 9, 2020
SLC26A21Feb 8, 2018
SLC27A42Oct 9, 2020
SLC2A146Oct 9, 2020
SLC2A1055Feb 26, 2020
SLC33A11Oct 9, 2020
SLC35A210Oct 9, 2020
SLC37A41Oct 9, 2020
SLC39A141Oct 9, 2020
SLC39A41Oct 9, 2020
SLC45A22Oct 9, 2020
SLC4A11Oct 9, 2020
SLC4A32Oct 9, 2020
SLC52A23Oct 9, 2020
SLC52A32Oct 9, 2020
SLC5A11Oct 9, 2020
SLC5A71Oct 9, 2020
SLC6A138Oct 9, 2020
SLC6A1-AS18Oct 9, 2020
SLC6A828Oct 9, 2020
SLC9A12Oct 9, 2020
SLC9A615Oct 9, 2020
SLFN141Oct 9, 2020
SLIT21Oct 9, 2020
SMAD22Oct 9, 2020
SMAD352Oct 9, 2020
SMAD4340Oct 9, 2020
SMAD62Oct 9, 2020
SMARCA11Oct 9, 2020
SMARCA261Oct 9, 2020
SMARCA41303Oct 9, 2020
SMARCB193Oct 9, 2020
SMARCC23Oct 9, 2020
SMARCD13Oct 9, 2020
SMARCE1110Oct 9, 2020
SMC1A29Oct 9, 2020
SMC326Oct 9, 2020
SMG91Oct 9, 2020
SMS11Oct 9, 2020
SNAP256Oct 9, 2020
SNHG1440Oct 9, 2020
SNHG311Oct 9, 2020
SNRNP2001Oct 9, 2020
SNTA139Feb 26, 2020
SON14Oct 9, 2020
SORD1Oct 9, 2020
SOS15Oct 9, 2020
SOS22Oct 9, 2020
SOX101Oct 9, 2020
SOX114Oct 9, 2020
SOX23Oct 9, 2020
SOX2-OT3Oct 9, 2020
SOX37Feb 26, 2020
SOX56Oct 9, 2020
SOX62Oct 9, 2020
SOX96Oct 9, 2020
SPART1Oct 9, 2020
SPAST6Oct 9, 2020
SPECC1L2Oct 9, 2020
SPECC1L-ADORA2A2Oct 9, 2020
SPEN4Oct 9, 2020
SPG115Oct 9, 2020
SPG73Oct 9, 2020
SPINK120Feb 26, 2020
SPNS23Oct 9, 2020
SPOP1Oct 9, 2020
SPR1Oct 9, 2020
SPRED12Oct 9, 2020
SPRY11Oct 9, 2020
SPTA11Oct 9, 2020
SPTAN190Oct 9, 2020
SPTBN23Oct 9, 2020
SPTBN44Oct 9, 2020
SPTLC11Oct 9, 2020
SQSTM11Oct 9, 2020
SRCAP4Oct 9, 2020
SRD5A31Oct 9, 2020
SRD5A3-AS11Oct 9, 2020
SRFBP11Oct 9, 2020
SRI1Feb 26, 2020
SRP542Oct 9, 2020
SRPK23Oct 9, 2020
SRPX23Feb 26, 2020
SSUH26Feb 26, 2020
ST3GAL312Feb 26, 2020
STAC31Oct 9, 2020
STAG16Oct 9, 2020
STAG25Oct 9, 2020
STAT11Oct 9, 2020
STAT21Oct 9, 2020
STAT31Oct 9, 2020
STIL3Oct 9, 2020
STK11686Oct 9, 2020
STS1Feb 8, 2018
STX1B11Oct 9, 2020
STXBP141Oct 9, 2020
SUCLA22Oct 9, 2020
SUFU165Feb 26, 2020
SUMF13Oct 9, 2020
SUOX2Oct 9, 2020
SURF15Oct 9, 2020
SUZ121Oct 9, 2020
SV2A1Oct 9, 2020
SYN120Oct 9, 2020
SYNE15Oct 9, 2020
SYNGAP177Oct 9, 2020
SYNJ13Oct 9, 2020
SYP3Oct 9, 2020
SYT11Oct 9, 2020
SYT21Oct 9, 2020
SZT2137Oct 9, 2020
SZT2-AS111Feb 26, 2020
TAB22Oct 9, 2020
TAF18Oct 9, 2020
TAF107Feb 26, 2020
TAF131Oct 9, 2020
TAF62Oct 9, 2020
TANC23Oct 9, 2020
TANGO22Oct 9, 2020
TAOK13Oct 9, 2020
TARID3Feb 26, 2020
TAZ5Feb 26, 2020
TBC1D2440Oct 9, 2020
TBCD2Oct 9, 2020
TBCE2Oct 9, 2020
TBCEL-TECTA3Oct 9, 2020
TBCK5Oct 9, 2020
TBL1XR119Oct 9, 2020
TBR119Oct 9, 2020
TBX126Oct 9, 2020
TBX191Oct 9, 2020
TBX21Oct 9, 2020
TBX2018Oct 9, 2020
TBX33Oct 9, 2020
TBX527Oct 9, 2020
TBX61Oct 9, 2020
TCAP16Feb 26, 2020
TCF123Oct 9, 2020
TCF2011Oct 9, 2020
TCF435Oct 9, 2020
TCF4-AS12Feb 26, 2020
TCN22Oct 9, 2020
TECTA3Oct 9, 2020
TELO22Oct 9, 2020
TENM43Oct 9, 2020
TET32Oct 9, 2020
TFAP2A5Oct 9, 2020
TFAP2A-AS24Oct 9, 2020
TFE32Oct 9, 2020
TGDS3Oct 9, 2020
TGFB229Oct 9, 2020
TGFB347Feb 26, 2020
TGFBR157Oct 9, 2020
TGFBR241Oct 9, 2020
TGM52Oct 9, 2020
TGM61Oct 9, 2020
TH4Oct 9, 2020
TH2-LCR154Feb 26, 2020
TH2LCRR221Feb 26, 2020
THAP11Oct 9, 2020
THOC28Oct 9, 2020
THOC66Oct 9, 2020
THPO1Oct 9, 2020
THRA2Oct 9, 2020
THRB1Oct 9, 2020
TIMM501Oct 9, 2020
TJP22Oct 9, 2020
TLK23Oct 9, 2020
TMCO13Oct 9, 2020
TMEM127130Feb 26, 2020
TMEM2161Oct 9, 2020
TMEM2313Oct 9, 2020
TMEM2401Oct 9, 2020
TMEM4342Feb 26, 2020
TMEM675Oct 9, 2020
TMPO36Feb 26, 2020
TMPO-AS16Feb 26, 2020
TMPRSS31Oct 9, 2020
TMPRSS62Oct 9, 2020
TNFRSF1A3Oct 9, 2020
TNNC17Feb 26, 2020
TNNI324Feb 26, 2020
TNNT11Feb 8, 2018
TNNT234Feb 26, 2020
TNNT31Oct 9, 2020
TNRC6B3Oct 9, 2020
TNXB9Oct 9, 2020
TOE130Oct 9, 2020
TOP2B1Oct 9, 2020
TOR1A2Oct 9, 2020
TP53832Oct 9, 2020
TP633Oct 9, 2020
TPK11Oct 9, 2020
TPM127Feb 26, 2020
TPM22Oct 9, 2020
TPM31Oct 9, 2020
TPP141Oct 9, 2020
TRAF71Oct 9, 2020
TRAK12Oct 9, 2020
TRAPPC112Oct 9, 2020
TRAPPC122Oct 9, 2020
TRAPPC2L2Feb 26, 2020
TRAPPC969Oct 9, 2020
TRB42Feb 26, 2020
TRDN54Feb 26, 2020
TRDN-AS13Feb 26, 2020
TREX11Oct 9, 2020
TRIM372Oct 9, 2020
TRIM632Oct 9, 2020
TRIM81Oct 9, 2020
TRIO21Oct 9, 2020
TRIOBP2Oct 9, 2020
TRIP128Oct 9, 2020
TRIT13Oct 9, 2020
TRMT11Oct 9, 2020
TRMT10A1Oct 9, 2020
TRMU3Oct 9, 2020
TRPM450Oct 9, 2020
TRPS14Oct 9, 2020
TRPV411Oct 9, 2020
TRRAP12Oct 9, 2020
TSC1470Oct 9, 2020
TSC21297Oct 9, 2020
TSEN541Oct 9, 2020
TSFM1Oct 9, 2020
TSHR1Oct 9, 2020
TSPAN13Oct 9, 2020
TSPAN3178Feb 26, 2020
TSPAN73Feb 26, 2020
TSPEAR4Oct 9, 2020
TSPEAR-AS11Oct 9, 2020
TSR25Feb 26, 2020
TTC192Oct 9, 2020
TTN1308Oct 9, 2020
TTN-AS1862Oct 9, 2020
TTR13Feb 26, 2020
TUBA1A14Oct 9, 2020
TUBB5Oct 9, 2020
TUBB2A1Oct 9, 2020
TUBB2B2Oct 9, 2020
TUBB33Oct 9, 2020
TUBB4A5Oct 9, 2020
TUBGCP62Oct 9, 2020
TUSC310Feb 26, 2020
TWIST12Oct 9, 2020
TWIST21Oct 9, 2020
TXNRD253Feb 26, 2020
TYMP2Oct 9, 2020
TYR5Oct 9, 2020
UBA22Oct 9, 2020
UBA52Oct 9, 2020
UBE2A6Oct 9, 2020
UBE3A40Oct 9, 2020
UBE3B3Oct 9, 2020
UBR13Oct 9, 2020
UBTF1Oct 9, 2020
UGT1A2Oct 9, 2020
UGT1A12Oct 9, 2020
UGT1A102Oct 9, 2020
UGT1A32Oct 9, 2020
UGT1A42Oct 9, 2020
UGT1A52Oct 9, 2020
UGT1A62Oct 9, 2020
UGT1A72Oct 9, 2020
UGT1A82Oct 9, 2020
UGT1A92Oct 9, 2020
UMOD1Oct 9, 2020
UNC45B1Feb 8, 2018
UNC802Oct 9, 2020
UPF3B9Oct 9, 2020
USH1C1Oct 9, 2020
USH2A11Oct 9, 2020
USP71Oct 9, 2020
USP9X16Oct 9, 2020
VAC141Oct 9, 2020
VAMP21Oct 9, 2020
VANGL13Feb 26, 2020
VARS12Oct 9, 2020
VARS23Oct 9, 2020
VCAN1Oct 9, 2020
VCAN-AS11Oct 9, 2020
VCL47Feb 26, 2020
VHL229Feb 26, 2020
VMA211Oct 9, 2020
VPS13B152Oct 9, 2020
VPS33B2Oct 9, 2020
VPS351Oct 9, 2020
VRK14Oct 9, 2020
VRK21Oct 9, 2020
VWF3Oct 9, 2020
WAC4Oct 9, 2020
WARS25Oct 9, 2020
WASHC41Oct 9, 2020
WASHC53Oct 9, 2020
WDFY33Oct 9, 2020
WDFY3-AS12Oct 9, 2020
WDR192Oct 9, 2020
WDR266Oct 9, 2020
WDR352Oct 9, 2020
WDR4515Oct 9, 2020
WDR622Oct 9, 2020
WDR721Oct 9, 2020
WDR731Oct 9, 2020
WDR811Oct 9, 2020
WFS12Oct 9, 2020
WNK21Oct 9, 2020
WNT11Oct 9, 2020
WNT10A6Oct 9, 2020
XK1Oct 9, 2020
XRCC2111Feb 26, 2020
XYLT11Oct 9, 2020
XYLT22Oct 9, 2020
YARS23Oct 9, 2020
YIF1B3Oct 9, 2020
YWHAG1Oct 9, 2020
YY14Oct 9, 2020
ZBTB188Oct 9, 2020
ZBTB208Oct 9, 2020
ZC4H210Oct 9, 2020
ZDHHC241Oct 9, 2020
ZDHHC95Oct 9, 2020
ZEB251Oct 9, 2020
ZFHX32Oct 9, 2020
ZFYVE262Oct 9, 2020
ZIC11Oct 9, 2020
ZIC31Oct 9, 2020
ZMIZ14Oct 9, 2020
ZMYM31Oct 9, 2020
ZMYND116Oct 9, 2020
ZNF1482Oct 9, 2020
ZNF2926Oct 9, 2020
ZNF3354Oct 9, 2020
ZNF4071Oct 9, 2020
ZNF4112Feb 26, 2020
ZNF4622Oct 9, 2020
ZNF6272Oct 9, 2020
ZNF6743Feb 26, 2020
ZNF7117Oct 9, 2020
ZNF819Feb 26, 2020
ZSWIM61Oct 9, 2020

Condition

NameSubmissionsLast Updated
Autism spectrum disorder152Feb 26, 2020
Cardiovascular phenotype8386Feb 26, 2020
Familial hemiplegic migraine33Feb 26, 2020
Familial thoracic aortic aneurysm and aortic dissection42Feb 26, 2020
Focal epilepsy1Oct 9, 2020
Hereditary cancer-predisposing syndrome52850Jul 28, 2020
History of neurodevelopmental disorder4565Mar 4, 2020
Inborn genetic diseases5220Oct 9, 2020
Mental Retardation, Psychosocial1Oct 9, 2020
Multiple congenital anomalies2Feb 26, 2020
Reticular dysgenesis1Mar 9, 2020
See cases1Apr 29, 2015
Seizures1336Feb 26, 2020
Tonic-clonic epilepsy1Oct 9, 2020
Tumor susceptibility linked to germline BAP1 mutations9May 9, 2016
Unilateral Hypotonia1Oct 9, 2020

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 24 tests
Acrodysostosis 1 with or without hormone resistance6 tests
Acromicric dysplasia3 tests
Acute lymphoid leukemia15 tests
Acute myeloid leukemia8 tests
Adams-Oliver syndrome 53 tests
Adrenocortical carcinoma, hereditary29 tests
Alagille syndrome 12 tests
Albinism, ocular, with sensorineural deafness6 tests
Alpha-B crystallinopathy3 tests
Amyloidogenic transthyretin amyloidosis7 tests
Andersen Tawil syndrome4 tests
Aortic aneurysm, familial thoracic 43 tests
Aortic aneurysm, familial thoracic 63 tests
Aortic aneurysm, familial thoracic 73 tests
Aortic aneurysm, familial thoracic 83 tests
Aortic valve disorder3 tests
Aplastic anemia16 tests
Arrhythmogenic right ventricular cardiomyopathy, type 105 tests
Arrhythmogenic right ventricular cardiomyopathy, type 115 tests
Arrhythmogenic right ventricular cardiomyopathy, type 126 tests
Arrhythmogenic right ventricular cardiomyopathy, type 55 tests
Arrhythmogenic right ventricular dysplasia 86 tests
Arrhythmogenic right ventricular dysplasia 96 tests
Arrhythmogenic right ventricular dysplasia, familial 18 tests
Arrhythmogenic right ventricular dysplasia, familial, 26 tests
Arterial tortuosity syndrome3 tests
Ataxia-telangiectasia syndrome21 tests
Ataxia-telangiectasia-like disorder12 tests
Atrial fibrillation, familial, 106 tests
Atrial fibrillation, familial, 124 tests
Atrial fibrillation, familial, 134 tests
Atrial fibrillation, familial, 142 tests
Atrial fibrillation, familial, 34 tests
Atrial fibrillation, familial, 44 tests
Atrial fibrillation, familial, 95 tests
Atrial septal defect 22 tests
Atrial septal defect 36 tests
Atrial septal defect 44 tests
Atrial septal defect 56 tests
Atrial septal defect 7 with or without atrioventricular conduction defects5 tests
Atrioventricular septal defect 42 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G8 tests
BCC18 tests
Bannayan-Riley-Ruvalcaba syndrome23 tests
Basal cell carcinoma, susceptibility to, 729 tests
Becker muscular dystrophy5 tests
Blepharocheilodontic syndrome17 tests
Bloom syndrome4 tests
Breast-ovarian cancer, familial 123 tests
Breast-ovarian cancer, familial 226 tests
Breast-ovarian cancer, familial 311 tests
Breast-ovarian cancer, familial 413 tests
Bronchiectasis with or without elevated sweat chloride 14 tests
Brugada syndrome 16 tests
Brugada syndrome 24 tests
Brugada syndrome 34 tests
Brugada syndrome 44 tests
Brugada syndrome 54 tests
Brugada syndrome 64 tests
Brugada syndrome 74 tests
Brugada syndrome 84 tests
Brugada syndrome 94 tests
Capillary malformation-arteriovenous malformation1 test
Carcinoid tumor of intestine8 tests
Carcinoma of colon35 tests
Carcinoma of pancreas38 tests
Cardiac arrhythmia1 test
Cardiac arrhythmia, ankyrin B-related5 tests
Cardiac valvular dysplasia, X-linked3 tests
Cardiofaciocutaneous syndrome 15 tests
Cardiofaciocutaneous syndrome 26 tests
Cardiomyopathy, dilated, 1NN7 tests
Cardiomyopathy, dilated, 2b3 tests
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis6 tests
Carney complex, type 16 tests
Carney-Stratakis syndrome8 tests
Carpal tunnel syndrome7 tests
Cataract 16, multiple types3 tests
Catecholaminergic polymorphic ventricular tachycardia1 test
Catecholaminergic polymorphic ventricular tachycardia type 17 tests
Cerebral arteriovenous malformation6 tests
Charcot-Marie-Tooth disease type 2B17 tests
Choroid plexus papilloma29 tests
Ciliary dyskinesia, primary, 101 test
Ciliary dyskinesia, primary, 111 test
Ciliary dyskinesia, primary, 121 test
Ciliary dyskinesia, primary, 131 test
Ciliary dyskinesia, primary, 141 test
Ciliary dyskinesia, primary, 151 test
Ciliary dyskinesia, primary, 171 test
Ciliary dyskinesia, primary, 181 test
Ciliary dyskinesia, primary, 191 test
Ciliary dyskinesia, primary, 21 test
Ciliary dyskinesia, primary, 201 test
Ciliary dyskinesia, primary, 281 test
Ciliary dyskinesia, primary, 31 test
Ciliary dyskinesia, primary, 61 test
Ciliary dyskinesia, primary, 71 test
Ciliary dyskinesia, primary, 91 test
Classic homocystinuria3 tests
Coffin-Siris syndrome 56 tests
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness6 tests
Colorectal cancer 14 tests
Colorectal cancer 1013 tests
Cone-rod dystrophy, X-linked 11 test
Congenital anomalies1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation4 tests
Congenital central hypoventilation11 tests
Congenital contractural arachnodactyly3 tests
Congenital muscular dystrophy, LMNA-related7 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B44 tests
Conotruncal heart malformations6 tests
Cowden syndrome8 tests
Cowden syndrome 123 tests
Cowden syndrome 38 tests
Cutaneous malignant melanoma 123 tests
Cutaneous malignant melanoma 219 tests
Cutaneous malignant melanoma 314 tests
Cutaneous malignant melanoma 86 tests
Cutaneous malignant melanoma 92 tests
Cystic fibrosis4 tests
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome13 tests
Danon disease6 tests
Deafness, autosomal dominant 104 tests
Deafness, autosomal recessive 976 tests
Desmoid disease, hereditary19 tests
Developmental delay2 tests
DiGeorge sequence2 tests
Diabetes mellitus type 11 test
Diabetes mellitus type 21 test
Diabetes mellitus, insulin-dependent, 201 test
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 111 test
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 52 tests
Diamond-Blackfan anemia 62 tests
Diamond-Blackfan anemia 72 tests
Diamond-Blackfan anemia 81 test
Diamond-Blackfan anemia 91 test
Diarrhea 5, with tufting enteropathy, congenital25 tests
Dilated cardiomyopathy 1A7 tests
Dilated cardiomyopathy 1AA6 tests
Dilated cardiomyopathy 1BB6 tests
Dilated cardiomyopathy 1C4 tests
Dilated cardiomyopathy 1CC6 tests
Dilated cardiomyopathy 1DD4 tests
Dilated cardiomyopathy 1E6 tests
Dilated cardiomyopathy 1EE6 tests
Dilated cardiomyopathy 1FF6 tests
Dilated cardiomyopathy 1G4 tests
Dilated cardiomyopathy 1HH4 tests
Dilated cardiomyopathy 1I4 tests
Dilated cardiomyopathy 1II3 tests
Dilated cardiomyopathy 1J4 tests
Dilated cardiomyopathy 1JJ4 tests
Dilated cardiomyopathy 1KK6 tests
Dilated cardiomyopathy 1M6 tests
Dilated cardiomyopathy 1O4 tests
Dilated cardiomyopathy 1P6 tests
Dilated cardiomyopathy 1R6 tests
Dilated cardiomyopathy 1S6 tests
Dilated cardiomyopathy 1W6 tests
Dilated cardiomyopathy 1X4 tests
Dilated cardiomyopathy 1Y6 tests
Dilated cardiomyopathy 1Z6 tests
Dilated cardiomyopathy 2A6 tests
Dilated cardiomyopathy 3B5 tests
Dilated cardiomyopathy with woolly hair and keratoderma6 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome7 tests
Distal myopathy, Tateyama type4 tests
Duchenne muscular dystrophy5 tests
Dyskeratosis congenita autosomal recessive 11 test
Dyskeratosis congenita, X-linked1 test
Dyskeratosis congenita, autosomal dominant 12 tests
Dyskeratosis congenita, autosomal dominant, 22 tests
Dyskeratosis congenita, autosomal dominant, 31 test
Dyskeratosis congenita, autosomal recessive 21 test
Dyskeratosis congenita, autosomal recessive, 32 tests
Dystransthyretinemic euthyroidal hyperthyroxinemia7 tests
Ectopia lentis, isolated, autosomal dominant3 tests
Ehlers-Danlos syndrome, classic type3 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
Ehlers-Danlos syndrome, type 43 tests
Elevated serum creatine phosphokinase4 tests
Emery-Dreifuss muscular dystrophy 1, X-linked3 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant7 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive7 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant6 tests
Endometrial carcinoma34 tests
Epidermal nevus5 tests
Epidermal nevus syndrome6 tests
Epileptic encephalopathy, early infantile, 523 tests
Erythrocytosis, familial, 211 tests
FANCONI ANEMIA, COMPLEMENTATION GROUP S23 tests
FG syndrome 13 tests
FG syndrome 23 tests
Fabry disease5 tests
Familial adenomatous polyposis 119 tests
Familial adenomatous polyposis 32 tests
Familial atrial myxoma6 tests
Familial cancer of breast43 tests
Familial chylomicronemia syndrome1 test
Familial colorectal cancer2 tests
Familial hyperaldosteronism type 32 tests
Familial hypercholesterolemia1 test
Familial hypercholesterolemia 21 test
Familial hypercholesterolemia 31 test
Familial hypercholesterolemia 41 test
Familial hypertrophic cardiomyopathy 18 tests
Familial hypertrophic cardiomyopathy 105 tests
Familial hypertrophic cardiomyopathy 116 tests
Familial hypertrophic cardiomyopathy 126 tests
Familial hypertrophic cardiomyopathy 136 tests
Familial hypertrophic cardiomyopathy 146 tests
Familial hypertrophic cardiomyopathy 156 tests
Familial hypertrophic cardiomyopathy 165 tests
Familial hypertrophic cardiomyopathy 175 tests
Familial hypertrophic cardiomyopathy 186 tests
Familial hypertrophic cardiomyopathy 26 tests
Familial hypertrophic cardiomyopathy 206 tests
Familial hypertrophic cardiomyopathy 36 tests
Familial hypertrophic cardiomyopathy 46 tests
Familial hypertrophic cardiomyopathy 65 tests
Familial hypertrophic cardiomyopathy 76 tests
Familial hypertrophic cardiomyopathy 85 tests
Familial hypertrophic cardiomyopathy 94 tests
Familial hypoplastic, glomerulocystic kidney1 test
Familial keratoacanthoma3 tests
Familial medullary thyroid carcinoma7 tests
Familial partial lipodystrophy 27 tests
Familial prostate cancer2 tests
Familial restrictive cardiomyopathy 16 tests
Familial restrictive cardiomyopathy 36 tests
Fanconi anemia, complementation group C4 tests
Fanconi anemia, complementation group D126 tests
Fanconi anemia, complementation group J11 tests
Fanconi anemia, complementation group N21 tests
Fanconi anemia, complementation group O11 tests
Fanconi anemia, complementation group U4 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
Fasting plasma glucose level quantitative trait locus 48 tests
Fatal infantile hypertonic myofibrillar myopathy3 tests
Focal cortical dysplasia type II8 tests
Follicular thyroid carcinoma5 tests
Fragile X syndrome1 test
Friedreich ataxia 15 tests
Frontometaphyseal dysplasia3 tests
Fukuyama congenital muscular dystrophy4 tests
Fumarase deficiency9 tests
GLUCOCORTICOID DEFICIENCY 54 tests
Gastrointestinal stromal tumor8 tests
Geleophysic dysplasia 23 tests
Generalized epilepsy with febrile seizures plus, type 14 tests
Gingival fibromatosis 11 test
Glioma susceptibility 129 tests
Glioma susceptibility 223 tests
Glioma susceptibility 326 tests
Glioma susceptibility 96 tests
Glycogen storage disease of heart, lethal congenital5 tests
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors13 tests
Gorlin syndrome7 tests
Heart-hand syndrome, Slovenian type7 tests
Hepatic adenomas, familial1 test
Hepatocellular carcinoma31 tests
Hereditary Cancer Syndrome2 tests
Hereditary diffuse gastric cancer20 tests
Hereditary disease18 tests
Hereditary hemorrhagic telangiectasia1 test
Hereditary hemorrhagic telangiectasia type 11 test
Hereditary leiomyomatosis and renal cell cancer9 tests
Hereditary mixed polyposis syndrome 214 tests
Hereditary nonpolyposis colon cancer1 test
Hereditary nonpolyposis colorectal cancer type 427 tests
Hereditary nonpolyposis colorectal cancer type 527 tests
Hereditary nonpolyposis colorectal cancer type 63 tests
Hereditary nonpolyposis colorectal cancer type 825 tests
Hereditary pancreatitis4 tests
Hirschsprung disease 17 tests
Holoprosencephaly 77 tests
Holt-Oram syndrome4 tests
Hutchinson-Gilford syndrome7 tests
Hyperinsulinism due to glucokinase deficiency1 test
Hypertrichotic osteochondrodysplasia Cantu type4 tests
Hypertrophic cardiomyopathy 258 tests
Hypobetalipoproteinemia, familial, 11 test
Hypoplastic left heart syndrome 26 tests
Hypothyroidism, congenital, nongoitrous, 56 tests
Intellectual disability2 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked3 tests
JOUBERT SYNDROME 326 tests
Jervell and Lange-Nielsen syndrome 14 tests
Jervell and Lange-Nielsen syndrome 24 tests
Joubert syndrome 101 test
Juvenile myelomonocytic leukemia6 tests
Juvenile polyposis syndrome18 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome18 tests
Kartagener syndrome1 test
Keratosis palmoplantaris striata II6 tests
LEOPARD syndrome 16 tests
LEOPARD syndrome 27 tests
LEOPARD syndrome 35 tests
Large congenital melanocytic nevus5 tests
Left ventricular noncompaction 106 tests
Left ventricular noncompaction 66 tests
Legius syndrome1 test
Leigh syndrome8 tests
Lethal acantholytic epidermolysis bullosa6 tests
Lethal tight skin contracture syndrome7 tests
Li-Fraumeni syndrome 129 tests
Li-Fraumeni syndrome 220 tests
Limb-girdle muscular dystrophy, type 1B7 tests
Limb-girdle muscular dystrophy, type 2J4 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C44 tests
Loeys-Dietz syndrome 13 tests
Loeys-Dietz syndrome 23 tests
Loeys-Dietz syndrome 33 tests
Loeys-Dietz syndrome 58 tests
Long QT syndrome 104 tests
Long QT syndrome 114 tests
Long QT syndrome 124 tests
Long QT syndrome 132 tests
Long QT syndrome 145 tests
Long QT syndrome 24 tests
Long QT syndrome 36 tests
Long QT syndrome 54 tests
Long QT syndrome 64 tests
Long QT syndrome 94 tests
Lung carcinoma6 tests
Lymphangiomyomatosis8 tests
Lynch syndrome I28 tests
Lynch syndrome II29 tests
MASS syndrome3 tests
MYH-associated polyposis15 tests
MYH7-related late-onset scapuloperoneal muscular dystrophy6 tests
Macrocephaly/autism syndrome23 tests
Macular degeneration, X-linked atrophic1 test
Macular degeneration, early-onset3 tests
Malignant tumor of esophagus3 tests
Malignant tumor of prostate36 tests
Malignant tumor of testis18 tests
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome13 tests
Mandibuloacral dysplasia7 tests
Marfan lipodystrophy syndrome3 tests
Marfan syndrome3 tests
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young, type 11 test
Maturity-onset diabetes of the young, type 21 test
Maturity-onset diabetes of the young, type 31 test
Medulloblastoma28 tests
Melanoma and neural system tumor syndrome19 tests
Melanoma, cutaneous malignant, susceptibility to, 106 tests
Melanoma-pancreatic cancer syndrome19 tests
Melnick-Needles syndrome3 tests
Meningioma, familial24 tests
Mental retardation, autosomal dominant 156 tests
Mental retardation, autosomal dominant 1612 tests
Metachondromatosis6 tests
Microcephaly, normal intelligence and immunodeficiency15 tests
Mitochondrial complex II deficiency8 tests
Moyamoya disease 53 tests
Muir-Torré syndrome31 tests
Multiple congenital anomalies3 tests
Multiple endocrine neoplasia, type 19 tests
Multiple endocrine neoplasia, type 2a7 tests
Multiple endocrine neoplasia, type 2b7 tests
Multiple endocrine neoplasia, type 46 tests
Multiple fibrofolliculomas7 tests
Multisystemic smooth muscle dysfunction syndrome3 tests
Muscular dystrophy, limb-girdle, type 2R4 tests
Myhre syndrome18 tests
Myofibrillar myopathy 14 tests
Myofibrillar myopathy, BAG3-related4 tests
Myofibrillar myopathy, ZASP-related4 tests
Myopathy, distal, 16 tests
Myopathy, early-onset, with fatal cardiomyopathy4 tests
Myopathy, myofibrillar, 9, with early respiratory failure4 tests
Myopathy, myosin storage, autosomal recessive6 tests
Myosin storage myopathy6 tests
Nasopharyngeal carcinoma29 tests
Naxos disease6 tests
Nemaline myopathy 11, autosomal recessive6 tests
Neoplasm of ovary17 tests
Neoplasm of stomach22 tests
Neuroblastoma 28 tests
Neuroblastoma 34 tests
Neurocutaneous melanocytosis5 tests
Neurofibromatosis, type 115 tests
Neurofibromatosis, type 27 tests
Neurogenic scapuloperoneal syndrome, Kaeser type4 tests
Nijmegen breakage syndrome-like disorder10 tests
Noonan syndrome 16 tests
Noonan syndrome 36 tests
Noonan syndrome 41 test
Noonan syndrome 57 tests
Noonan syndrome 65 tests
Noonan syndrome 75 tests
Ohdo syndrome, X-linked3 tests
Orofaciodigital syndrome I1 test
Osteofibrous dysplasia6 tests
Osteosarcoma32 tests
Oto-palato-digital syndrome, type I3 tests
Oto-palato-digital syndrome, type II3 tests
Pancreatic agenesis 11 test
Pancreatic cancer 226 tests
Pancreatic cancer 321 tests
Pancreatic cancer 423 tests
Paragangliomas 18 tests
Paragangliomas 26 tests
Paragangliomas 38 tests
Paragangliomas 48 tests
Paragangliomas 58 tests
Parkes Weber syndrome1 test
Paroxysmal familial ventricular fibrillation 16 tests
Periventricular nodular heterotopia 13 tests
Permanent neonatal diabetes mellitus1 test
Peutz-Jeghers syndrome18 tests
Pheochromocytoma12 tests
Pigmented nodular adrenocortical disease, primary, 16 tests
Pilomatrixoma15 tests
Pneumothorax, primary spontaneous7 tests
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1 test
Primary ciliary dyskinesia 231 test
Primary dilated cardiomyopathy1 test
Progressive familial heart block type IB4 tests
Progressive familial heart block, type 1A6 tests
Prostate cancer, hereditary, 912 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 22 tests
RAS-associated autoimmune leukoproliferative disorder6 tests
Renal cell carcinoma, nonpapillary13 tests
Renal cell carcinoma, papillary, 16 tests
Retinal dystrophy, reticular pigmentary, of posterior pole13 tests
Retinitis Pigmentosa 231 test
Retinitis pigmentosa 151 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinoblastoma7 tests
Revesz syndrome1 test
Rhabdoid tumor predisposition syndrome 16 tests
Rhabdoid tumor predisposition syndrome 212 tests
Rhabdomyosarcoma, embryonal, 213 tests
Rippling muscle disease4 tests
Rippling muscle disease 24 tests
Romano-Ward syndrome4 tests
Rotor syndrome1 test
SUDDEN INFANT DEATH SYNDROME6 tests
Schwannomatosis1 test
Schwannomatosis 17 tests
Short QT syndrome 14 tests
Short QT syndrome 24 tests
Short QT syndrome 35 tests
Shprintzen syndrome2 tests
Shprintzen-Goldberg syndrome3 tests
Shwachman-Diamond syndrome 11 test
Sick sinus syndrome 1, autosomal recessive6 tests
Sick sinus syndrome 2, autosomal dominant4 tests
Sick sinus syndrome 3, susceptibility to6 tests
Simpson-Golabi-Behmel syndrome, type 21 test
Sitosterolemia1 test
Skin fragility-woolly hair-palmoplantar keratoderma syndrome6 tests
Small cell lung cancer7 tests
Somatotroph adenoma4 tests
Spinocerebellar ataxia type 19/224 tests
Squamous cell carcinoma of the head and neck23 tests
Stiff skin syndrome3 tests
Surfactant metabolism dysfunction, pulmonary, 11 test
Surfactant metabolism dysfunction, pulmonary, 21 test
Surfactant metabolism dysfunction, pulmonary, 31 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 51 test
Terminal osseous dysplasia3 tests
Testicular anomalies with or without congenital heart disease2 tests
Tetralogy of Fallot6 tests
Tibial muscular dystrophy4 tests
Tietz syndrome6 tests
Timothy syndrome4 tests
Tropical calcific pancreatitis1 test
Trypsinogen deficiency1 test
Tuberous sclerosis 19 tests
Tuberous sclerosis 29 tests
Tumor susceptibility linked to germline BAP1 mutations9 tests
Turcot syndrome33 tests
Urinary bladder cancer13 tests
VACTERL association with hydrocephalus23 tests
Ventricular septal defect 12 tests
Ventricular septal defect 36 tests
Ventricular tachycardia, catecholaminergic polymorphic, 25 tests
Ventricular tachycardia, catecholaminergic polymorphic, 45 tests
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness5 tests
Von Hippel-Lindau syndrome11 tests
Waardenburg syndrome type 2A6 tests
Weill-Marchesani syndrome 23 tests
Wilms tumor 126 tests
Wolff-Parkinson-White pattern5 tests
X-linked mental retardation with marfanoid habitus syndrome3 tests
Support Center