Ambry Genetics

Summary of submissions to ClinVar

Total submissions: 72614

Gene

GeneSubmissionsLast Updated
A4GNT1Oct 9, 2020
AAAS1Oct 9, 2020
AARS11Oct 9, 2020
AARS24Oct 9, 2020
ABCA11Oct 9, 2020
ABCA123Oct 9, 2020
ABCA49Oct 9, 2020
ABCA51Nov 30, 2020
ABCB111Oct 9, 2020
ABCB71Oct 9, 2020
ABCC21Oct 9, 2020
ABCC82Oct 9, 2020
ABCC939Nov 30, 2020
ABCD128Nov 30, 2020
ABL11Oct 9, 2020
ABL22Oct 9, 2020
ACADVL2Oct 9, 2020
ACAN8Nov 30, 2020
ACAT11Nov 30, 2020
ACO24Nov 30, 2020
ACP52Oct 9, 2020
ACSL49Nov 30, 2020
ACTA13Oct 9, 2020
ACTA230Nov 30, 2020
ACTA2-AS112Nov 30, 2020
ACTB15Oct 9, 2020
ACTC112Nov 30, 2020
ACTG17Oct 9, 2020
ACTG24Nov 30, 2020
ACTN13Oct 9, 2020
ACTN265Nov 30, 2020
ACVR12Oct 9, 2020
ADAM172Oct 9, 2020
ADAMTS31Oct 9, 2020
ADAR4Oct 9, 2020
ADCY57Nov 30, 2020
ADGRG12Oct 9, 2020
ADGRL11Oct 9, 2020
ADGRL1-AS11Oct 9, 2020
ADGRV12Oct 9, 2020
ADNP47Nov 30, 2020
ADSL2Oct 9, 2020
AFF212Nov 30, 2020
AFF41Oct 9, 2020
AFG3L22Oct 9, 2020
AGA1Oct 9, 2020
AGK2Oct 9, 2020
AGL2Oct 9, 2020
AGO11Oct 9, 2020
AGTR23Nov 30, 2020
AHCY6Oct 9, 2020
AHDC17Oct 9, 2020
AIFM12Feb 8, 2018
AIMP25Nov 30, 2020
AIP149Nov 30, 2020
AK21Nov 30, 2020
AKAP9190Nov 30, 2020
AKT21Oct 9, 2020
AKT32Oct 9, 2020
ALDH18A15Oct 9, 2020
ALDH5A14Oct 9, 2020
ALDH7A127Nov 30, 2020
ALG12Nov 30, 2020
ALG1328Nov 30, 2020
ALG33Oct 9, 2020
ALK160Nov 30, 2020
ALMS11Oct 9, 2020
ALPL2Oct 9, 2020
ALS22Nov 30, 2020
ALX41Oct 9, 2020
AMELX1Oct 9, 2020
AMER12Oct 9, 2020
AMPD23Nov 30, 2020
AMT2Oct 9, 2020
ANAPC151Nov 30, 2020
ANG1Nov 30, 2020
ANK2204Nov 30, 2020
ANK31Nov 30, 2020
ANKLE21Oct 9, 2020
ANKRD121Nov 30, 2020
ANKRD11186Nov 30, 2020
ANO32Nov 30, 2020
ANO52Oct 9, 2020
ANOS11Oct 9, 2020
AOPEP158Nov 30, 2020
AP1S22Nov 30, 2020
AP4B137Nov 30, 2020
AP4B1-AS128Nov 30, 2020
AP4M11Oct 9, 2020
AP4S13Oct 9, 2020
APAF12Oct 9, 2020
APC2820Apr 15, 2021
APOB1Oct 9, 2020
APP1Oct 9, 2020
AR1Oct 9, 2020
ARFGEF21Oct 9, 2020
ARHGAP11A1Nov 30, 2020
ARHGAP11A-SCG51Nov 30, 2020
ARHGAP61Oct 9, 2020
ARHGEF64Nov 30, 2020
ARHGEF921Nov 30, 2020
ARID1A9Nov 30, 2020
ARID1B187Nov 30, 2020
ARID27Oct 9, 2020
ARSA5Oct 9, 2020
ARSB2Oct 9, 2020
ARSL2Oct 9, 2020
ARV11Oct 9, 2020
ARX34Nov 30, 2020
ASCC12Oct 9, 2020
ASH1L6Oct 9, 2020
ASNS6Oct 9, 2020
ASPM16Nov 30, 2020
ASXL18Oct 9, 2020
ASXL21Oct 9, 2020
ASXL312Oct 9, 2020
ATAD3A2Oct 9, 2020
ATL13Oct 9, 2020
ATM4081Nov 30, 2020
ATN12Oct 9, 2020
ATP13A262Nov 30, 2020
ATP1A236Nov 30, 2020
ATP1A312Oct 9, 2020
ATP2B32Nov 30, 2020
ATP6AP24Nov 30, 2020
ATP6V0A11Oct 9, 2020
ATP6V0A42Oct 9, 2020
ATP6V1A5Oct 9, 2020
ATP6V1B13Oct 9, 2020
ATP7A31Nov 30, 2020
ATP7B4Oct 9, 2020
ATP8A22Oct 9, 2020
ATP8B11Oct 9, 2020
ATRIP1Oct 9, 2020
ATRIP-TREX11Oct 9, 2020
ATRX63Nov 30, 2020
ATXN7L3-AS11Oct 9, 2020
AUH1Oct 9, 2020
AUTS29Oct 9, 2020
AVPR22Oct 9, 2020
AXIN2226Nov 30, 2020
B3GALNT23Oct 9, 2020
B3GALT62Oct 9, 2020
B3GLCT1Oct 9, 2020
B4GALNT11Oct 9, 2020
BAG343Nov 30, 2020
BAP1320Nov 30, 2020
BARD11126Apr 15, 2021
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
BCOR12Nov 30, 2020
BCS1L3Oct 9, 2020
BDNF1Oct 9, 2020
BDNF-AS1Oct 9, 2020
BDNF-AS11Oct 9, 2020
BICD25Nov 30, 2020
BIVM-ERCC51Oct 9, 2020
BLM534Nov 30, 2020
BMP22Oct 9, 2020
BMP41Oct 9, 2020
BMP72Oct 9, 2020
BMPR1A466Nov 30, 2020
BPTF4Oct 9, 2020
BRAF12Oct 9, 2020
BRAT16Nov 30, 2020
BRCA12992Apr 15, 2021
BRCA25283Nov 30, 2020
BRD41Oct 9, 2020
BRF11Oct 9, 2020
BRIP11355Apr 15, 2021
BRPF16Oct 9, 2020
BRSK21Oct 9, 2020
BRWD317Nov 30, 2020
BSCL22Oct 9, 2020
BTD5Oct 9, 2020
C10orf1051Oct 9, 2020
C11orf651548Nov 30, 2020
C12orf601Oct 9, 2020
CA88Nov 30, 2020
CACNA1A144Nov 30, 2020
CACNA1C207Nov 30, 2020
CACNA1C-AS182Nov 30, 2020
CACNA1C-AS21Nov 30, 2020
CACNA1D2Oct 9, 2020
CACNA1E10Nov 30, 2020
CACNA1F1Oct 9, 2020
CACNA1G3Oct 9, 2020
CACNA2D141Nov 30, 2020
CACNA2D1-AS13Nov 30, 2020
CACNA2D21Oct 9, 2020
CACNB247Nov 30, 2020
CAD2Oct 9, 2020
CALM14Nov 30, 2020
CALM21Oct 9, 2020
CALR310Nov 30, 2020
CAMK2A1Oct 9, 2020
CAMK2B6Oct 9, 2020
CAMTA14Oct 9, 2020
CANT12Oct 9, 2020
CAPN102Oct 9, 2020
CAPN32Oct 9, 2020
CAPN51Oct 9, 2020
CARD141Oct 9, 2020
CARS26Oct 9, 2020
CASD11Oct 9, 2020
CASK26Nov 30, 2020
CASP21Oct 9, 2020
CASQ224Nov 30, 2020
CASR97Nov 30, 2020
CAV11Apr 8, 2016
CAV324Nov 30, 2020
CBL8Oct 9, 2020
CBS73Nov 30, 2020
CC2D1A58Nov 30, 2020
CC2D2A7Oct 9, 2020
CCDC1601Oct 9, 2020
CCDC88C2Oct 9, 2020
CCN62Oct 9, 2020
CCND24Oct 9, 2020
CCNF1Nov 30, 2020
CCNH1Oct 9, 2020
CD40LG1Oct 9, 2020
CDC423Oct 9, 2020
CDC42BPB1Oct 9, 2020
CDC71Oct 9, 2020
CDC7332Nov 30, 2020
CDH11128Nov 30, 2020
CDH239Oct 9, 2020
CDK101Oct 9, 2020
CDK136Oct 9, 2020
CDK13-DT1Oct 9, 2020
CDK4224Nov 30, 2020
CDKL537Nov 30, 2020
CDKN1B140Nov 30, 2020
CDKN1C1Oct 9, 2020
CDKN2A301Nov 30, 2020
CDKN2A-DT1Nov 30, 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
CEP85L4Nov 30, 2020
CERS12Oct 9, 2020
CERT12Oct 9, 2020
CFTR201Nov 30, 2020
CFTR-AS125Nov 30, 2020
CHAMP15Oct 9, 2020
CHD285Nov 30, 2020
CHD310Oct 9, 2020
CHD45Oct 9, 2020
CHD7154Nov 30, 2020
CHD885Nov 30, 2020
CHEK2990Apr 15, 2021
CHMP1A1Oct 9, 2020
CHRNA11Oct 9, 2020
CHRNA229Nov 30, 2020
CHRNA460Nov 30, 2020
CHRNB218Nov 30, 2020
CHRNG3Oct 9, 2020
CHSY12Oct 9, 2020
CIC6Oct 9, 2020
CIT2Oct 9, 2020
CIZ14Nov 30, 2020
CLCN12Oct 9, 2020
CLCN32Oct 9, 2020
CLCN46Oct 9, 2020
CLCN52Oct 9, 2020
CLCN72Oct 9, 2020
CLN322Nov 30, 2020
CLN526Nov 30, 2020
CLN616Nov 30, 2020
CLN820Nov 30, 2020
CLP11Oct 9, 2020
CLPB1Oct 9, 2020
CLTC11Oct 9, 2020
CNGB31Feb 8, 2018
CNOT32Oct 9, 2020
CNTNAP11Oct 9, 2020
CNTNAP288Nov 30, 2020
COG41Oct 9, 2020
COL11A13Oct 9, 2020
COL11A22Oct 9, 2020
COL12A12Oct 9, 2020
COL1A13Oct 9, 2020
COL1A210Nov 30, 2020
COL24A11Oct 9, 2020
COL27A13Oct 9, 2020
COL2A112Oct 9, 2020
COL3A1135Nov 30, 2020
COL4A112Nov 30, 2020
COL4A22Oct 9, 2020
COL4A2-AS11Oct 9, 2020
COL4A32Oct 9, 2020
COL4A42Oct 9, 2020
COL4A51Oct 9, 2020
COL5A1199Nov 30, 2020
COL5A2104Nov 30, 2020
COL6A16Oct 9, 2020
COL6A24Oct 9, 2020
COL6A33Nov 30, 2020
COL7A15Nov 30, 2020
COL9A11Oct 9, 2020
COL9A21Oct 9, 2020
COL9A32Oct 9, 2020
COMP1Oct 9, 2020
COMT2Nov 30, 2020
COQ42Oct 9, 2020
COQ8A4Nov 30, 2020
COQ8B2Oct 9, 2020
CP1Oct 9, 2020
CPA146Nov 30, 2020
CPLANE16Nov 30, 2020
CPS13Oct 9, 2020
CPT1A1Oct 9, 2020
CPT21Feb 8, 2018
CRB12Oct 9, 2020
CREBBP123Nov 30, 2020
CRH10Nov 30, 2020
CRYAA1Oct 9, 2020
CRYAB9Nov 30, 2020
CRYBA11Oct 9, 2020
CRYBB23Oct 9, 2020
CSF1R1Oct 9, 2020
CSNK2A18Oct 9, 2020
CSNK2B8Oct 9, 2020
CSRP319Nov 30, 2020
CSTB7Nov 30, 2020
CTBP11Oct 9, 2020
CTBP1-AS1Oct 9, 2020
CTCF21Nov 30, 2020
CTLA42Oct 9, 2020
CTNNA1123Nov 30, 2020
CTNNB119Oct 9, 2020
CTNND25Oct 9, 2020
CTNS1Oct 9, 2020
CTRC34Nov 30, 2020
CTSD29Nov 30, 2020
CTSF30Nov 30, 2020
CTSK1Oct 9, 2020
CUBN2Oct 9, 2020
CUL33Oct 9, 2020
CUL4B11Nov 30, 2020
CUL73Nov 30, 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
CYP7B11Nov 30, 2020
CZ1P-ASNS6Oct 9, 2020
DARS22Nov 30, 2020
DCC2Oct 9, 2020
DCHS12Oct 9, 2020
DCLRE1B2Nov 30, 2020
DCX7Nov 30, 2020
DDX111Oct 9, 2020
DDX3X38Nov 30, 2020
DEAF18Oct 9, 2020
DEGS12Oct 9, 2020
DENND5A2Feb 8, 2018
DEPDC568Nov 30, 2020
DES37Nov 30, 2020
DGAT11Oct 9, 2020
DGCR61Oct 9, 2020
DGKZ1Nov 30, 2020
DGUOK1Nov 30, 2020
DHCR753Nov 30, 2020
DHDDS1Oct 9, 2020
DHFR26Nov 30, 2020
DHTKD12Oct 9, 2020
DHX305Oct 9, 2020
DIAPH11Oct 9, 2020
DICER11184Apr 15, 2021
DIPK1A2Oct 9, 2020
DKC11Nov 30, 2020
DLAT1Oct 9, 2020
DLD2Oct 9, 2020
DLG314Nov 30, 2020
DLG41Oct 9, 2020
DLGAP11Oct 9, 2020
DLL14Oct 9, 2020
DLL41Oct 9, 2020
DMD138Nov 30, 2020
DNA21Oct 9, 2020
DNAAF111Oct 9, 2020
DNAAF32Nov 30, 2020
DNAH112Oct 9, 2020
DNAH59Oct 9, 2020
DNAI11Oct 9, 2020
DNAJC211Oct 9, 2020
DNAJC31Oct 9, 2020
DNAJC59Nov 30, 2020
DNM139Nov 30, 2020
DNM1L3Oct 9, 2020
DNMT3A13Nov 30, 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
DPYSL21Nov 30, 2020
DSC268Nov 30, 2020
DSCAM3Oct 9, 2020
DSCAS4Nov 30, 2020
DSE3Oct 9, 2020
DSG280Nov 30, 2020
DSG2-AS129Nov 30, 2020
DSP182Nov 30, 2020
DUOX23Oct 9, 2020
DUSP295Nov 30, 2020
DVL11Oct 9, 2020
DYNC1H1151Nov 30, 2020
DYNC2H13Nov 30, 2020
DYRK1A33Nov 30, 2020
DYSF3Nov 30, 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
EEF1A227Nov 30, 2020
EEF1D1Oct 9, 2020
EFL12Oct 9, 2020
EFNB12Oct 9, 2020
EFTUD211Oct 9, 2020
EGFR1Nov 30, 2020
EGFR-AS11Nov 30, 2020
EGLN11Nov 14, 2017
EGR21Oct 9, 2020
EHMT175Nov 30, 2020
EIF2AK11Nov 30, 2020
EIF2AK21Oct 9, 2020
EIF2B51Oct 9, 2020
EIF2S31Oct 9, 2020
EIF3F1Oct 9, 2020
ELN3Oct 9, 2020
ELOVL51Oct 9, 2020
ELP22Nov 30, 2020
EMC14Oct 9, 2020
EMC1-AS13Oct 9, 2020
EMD7Nov 30, 2020
EMILIN11Nov 30, 2020
ENG1Oct 9, 2020
EP30018Oct 9, 2020
EPCAM18Nov 30, 2020
EPG55Nov 30, 2020
EPM2A23Nov 30, 2020
EPM2A-DT11Nov 30, 2020
EPM2AIP113Nov 30, 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
ETFB1Nov 30, 2020
ETFDH2Oct 9, 2020
ETV64Oct 9, 2020
EVC21Oct 9, 2020
EXOC6B1Oct 9, 2020
EXOSC31Oct 9, 2020
EXT12Oct 9, 2020
EXT21Oct 9, 2020
EYA421Nov 30, 2020
EZH21Oct 9, 2020
F111Oct 9, 2020
F21Oct 9, 2020
F82Oct 9, 2020
F92Oct 9, 2020
FA2H2Nov 30, 2020
FAM111A1Oct 9, 2020
FAM161A1Oct 9, 2020
FAM20A7Nov 30, 2020
FANCA1Oct 9, 2020
FANCB6Nov 30, 2020
FANCC259Nov 30, 2020
FANCD22Oct 9, 2020
FANCD2OS1Oct 9, 2020
FANCI3Nov 30, 2020
FANCL1Oct 9, 2020
FARS22Oct 9, 2020
FAS1Oct 9, 2020
FAT44Oct 9, 2020
FBN1413Nov 30, 2020
FBN2266Nov 30, 2020
FBXL313Nov 30, 2020
FBXL46Oct 9, 2020
FBXO112Oct 9, 2020
FBXO281Oct 9, 2020
FDX21Oct 9, 2020
FDXR8Oct 9, 2020
FGD131Nov 30, 2020
FGFR11Oct 9, 2020
FGFR25Nov 30, 2020
FGFR37Nov 30, 2020
FGG1Oct 9, 2020
FH310Nov 30, 2020
FHL12Oct 9, 2020
FIG42Oct 9, 2020
FKBP102Oct 9, 2020
FKBP143Oct 9, 2020
FKBP14-AS13Oct 9, 2020
FKTN22Nov 30, 2020
FLCN363Nov 30, 2020
FLG3Nov 30, 2020
FLNA266Nov 30, 2020
FLNC4Oct 9, 2020
FLT41Oct 9, 2020
FLVCR13Oct 9, 2020
FMO31Oct 9, 2020
FMR110Nov 30, 2020
FN12Nov 30, 2020
FOLR114Nov 30, 2020
FOXG147Nov 30, 2020
FOXP133Nov 30, 2020
FOXP224Nov 30, 2020
FOXP31Oct 9, 2020
FOXRED11Oct 9, 2020
FREM12Oct 9, 2020
FRMD71Oct 9, 2020
FRMPD49Oct 9, 2020
FRRS1L1Oct 9, 2020
FTSJ111Nov 30, 2020
FUS1Oct 9, 2020
FUT81Oct 9, 2020
FXN10Nov 30, 2020
G6PC12Oct 9, 2020
G6PD9Oct 9, 2020
GAA3Oct 9, 2020
GABBR25Oct 9, 2020
GABRA119Nov 30, 2020
GABRA34Oct 9, 2020
GABRB22Oct 9, 2020
GABRB314Nov 30, 2020
GABRG221Nov 30, 2020
GALC3Oct 9, 2020
GALNS5Oct 9, 2020
GALNT12272Nov 30, 2020
GAMT21Nov 30, 2020
GAN2Oct 9, 2020
GAREM21Oct 9, 2020
GARS11Nov 30, 2020
GATA31Oct 9, 2020
GATA429Nov 30, 2020
GATA52Oct 9, 2020
GATAD18Nov 30, 2020
GATAD2B6Oct 9, 2020
GATM15Nov 30, 2020
GBA1Oct 9, 2020
GBA21Oct 9, 2020
GBE14Nov 30, 2020
GCH12Oct 9, 2020
GCK4Oct 9, 2020
GCM21Oct 9, 2020
GDAP12Oct 9, 2020
GDF12Oct 9, 2020
GDI19Nov 30, 2020
GFAP5Nov 30, 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
GJB15Nov 30, 2020
GJB25Oct 9, 2020
GJB61Oct 9, 2020
GJC23Oct 9, 2020
GJD2-DT12Nov 30, 2020
GK5Nov 30, 2020
GK-AS11Nov 30, 2020
GLA16Nov 30, 2020
GLB14Oct 9, 2020
GLDC2Oct 9, 2020
GLE12Oct 9, 2020
GLI26Oct 9, 2020
GLI34Oct 9, 2020
GMPPB7Oct 9, 2020
GNAO123Nov 30, 2020
GNAS9Nov 30, 2020
GNAS-AS12Oct 9, 2020
GNB17Oct 9, 2020
GNB51Oct 9, 2020
GNE1Oct 9, 2020
GNG31Oct 9, 2020
GNPAT1Oct 9, 2020
GNPTAB2Oct 9, 2020
GOSR29Nov 30, 2020
GPC311Nov 30, 2020
GPC41Oct 9, 2020
GPD11Oct 9, 2020
GPD1L26Nov 30, 2020
GPR1431Oct 9, 2020
GPR191Nov 30, 2020
GPT21Oct 9, 2020
GREM12Nov 30, 2020
GRHL31Feb 8, 2018
GRIA23Oct 9, 2020
GRIA316Nov 30, 2020
GRIA41Oct 9, 2020
GRID22Oct 9, 2020
GRIK21Oct 9, 2020
GRIN139Nov 30, 2020
GRIN2A58Nov 30, 2020
GRIN2B76Nov 30, 2020
GRIN2D5Oct 9, 2020
GRM12Oct 9, 2020
GRN37Nov 30, 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
HCCS2Nov 30, 2020
HCFC110Nov 30, 2020
HCN136Nov 30, 2020
HCN22Oct 9, 2020
HCN478Nov 30, 2020
HDAC11Nov 30, 2020
HDAC21Oct 9, 2020
HDAC32Oct 9, 2020
HDAC41Oct 9, 2020
HDAC811Nov 30, 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
HMBS1Nov 30, 2020
HMGCL2Oct 9, 2020
HNF1B1Oct 9, 2020
HNF4A2Oct 9, 2020
HNRNPH11Oct 9, 2020
HNRNPH22Oct 9, 2020
HNRNPK6Oct 9, 2020
HNRNPR1Oct 9, 2020
HNRNPU21Nov 30, 2020
HNRNPUL2-BSCL22Oct 9, 2020
HOXA116Nov 30, 2020
HOXA22Nov 30, 2020
HOXB13271Nov 30, 2020
HOXD131Oct 9, 2020
HPDL1Nov 30, 2020
HPRT16Nov 30, 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
HUWE176Nov 30, 2020
IAH11Oct 9, 2020
IARS12Oct 9, 2020
IARS22Oct 9, 2020
IBA572Oct 9, 2020
ICOSLG1Oct 9, 2020
IDH21Oct 9, 2020
IDS20Nov 30, 2020
IDUA5Oct 9, 2020
IFT1722Oct 9, 2020
IGF1R7Oct 9, 2020
IGHMBP24Oct 9, 2020
IKBKG1Oct 9, 2020
IL10RB1Oct 9, 2020
IL1RAPL13Nov 30, 2020
IL21R2Oct 9, 2020
IL21R-AS11Oct 9, 2020
IL2RG2Oct 9, 2020
ILK7Nov 30, 2020
INPP5E3Oct 9, 2020
INSL31Oct 9, 2020
INTS14Oct 9, 2020
IQCE1Oct 9, 2020
IQSEC237Nov 30, 2020
IRAK1BP14Oct 9, 2020
IRF2BPL2Oct 9, 2020
ITGA112Nov 30, 2020
ITGB22Oct 9, 2020
ITK1Oct 9, 2020
ITPR115Nov 30, 2020
ITSN12Nov 30, 2020
IVD3Oct 9, 2020
JAG132Nov 30, 2020
JAK11Apr 8, 2016
JPH259Nov 30, 2020
JUP66Nov 30, 2020
KANSL19Oct 9, 2020
KARS15Oct 9, 2020
KAT6A66Nov 30, 2020
KAT6B7Nov 30, 2020
KATNAL224Nov 30, 2020
KCNA14Nov 30, 2020
KCNA213Nov 30, 2020
KCNAB21Oct 9, 2020
KCNB15Oct 9, 2020
KCNC115Nov 30, 2020
KCNC32Nov 30, 2020
KCND334Nov 30, 2020
KCNE122Nov 30, 2020
KCNE29Nov 30, 2020
KCNE37Nov 30, 2020
KCNH15Oct 9, 2020
KCNH2149Nov 30, 2020
KCNJ1014Nov 30, 2020
KCNJ220Nov 30, 2020
KCNJ57Nov 30, 2020
KCNJ812Nov 30, 2020
KCNK93Oct 9, 2020
KCNMA11Oct 9, 2020
KCNN22Oct 9, 2020
KCNQ1126Nov 30, 2020
KCNQ1-AS113Nov 30, 2020
KCNQ1OT15Nov 30, 2020
KCNQ265Nov 30, 2020
KCNQ332Nov 30, 2020
KCNQ42Oct 9, 2020
KCNQ54Oct 9, 2020
KCNT188Nov 30, 2020
KCNT23Oct 9, 2020
KCTD716Nov 30, 2020
KDM1A1Oct 9, 2020
KDM3B3Oct 9, 2020
KDM5B7Oct 9, 2020
KDM5C30Nov 30, 2020
KDM6A7Oct 9, 2020
KDM6B4Nov 30, 2020
KIAA11092Oct 9, 2020
KIDINS2202Oct 9, 2020
KIF112Oct 9, 2020
KIF1A83Nov 30, 2020
KIF223Oct 9, 2020
KIF2A1Oct 9, 2020
KIF5A1Oct 9, 2020
KIF71Oct 9, 2020
KIT146Nov 30, 2020
KLF71Oct 9, 2020
KLHL31Oct 9, 2020
KLHL74Oct 9, 2020
KLHL91Nov 30, 2020
KLK42Oct 9, 2020
KLLN94Nov 30, 2020
KMT2A40Nov 30, 2020
KMT2B10Oct 9, 2020
KMT2C2Oct 9, 2020
KMT2D32Oct 9, 2020
KMT2E11Oct 9, 2020
KMT5B6Oct 9, 2020
KRAS8Oct 9, 2020
KRT121Oct 9, 2020
KRT161Nov 30, 2020
KRT91Oct 9, 2020
L1CAM31Nov 30, 2020
L3MBTL11Oct 9, 2020
LAMA13Nov 30, 2020
LAMA29Oct 9, 2020
LAMA463Nov 30, 2020
LAMA4-AS14Nov 30, 2020
LAMC32Oct 9, 2020
LAMP231Nov 30, 2020
LAS1L2Nov 30, 2020
LCA52Nov 30, 2020
LDB370Nov 30, 2020
LDLR3Oct 9, 2020
LGI110Nov 30, 2020
LHX91Oct 9, 2020
LIG44Oct 9, 2020
LINS145Nov 30, 2020
LIPT22Nov 30, 2020
LMBRD11Nov 30, 2020
LMNA78Nov 30, 2020
LMX1B1Oct 9, 2020
LOC1001305874Nov 30, 2020
LOC1002879441Oct 9, 2020
LOC1005063216Nov 30, 2020
LOC100507346125Nov 30, 2020
LOC10144820234Nov 30, 2020
LOC10192705523Nov 30, 2020
LOC1019279782Nov 30, 2020
LOC10272405856Nov 30, 2020
LOC1027243781Oct 9, 2020
LOC1053710491Oct 9, 2020
LOC1053715665Oct 9, 2020
LOC1053720681Oct 9, 2020
LOC1053722732Oct 9, 2020
LOC10605010213Nov 30, 2020
LOC1060990622Oct 9, 2020
LOC1066279811Oct 9, 2020
LOC1067366148Nov 30, 2020
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VAC141Oct 9, 2020
VAMP21Oct 9, 2020
VANGL13Nov 30, 2020
VARS12Oct 9, 2020
VARS23Oct 9, 2020
VCAN1Oct 9, 2020
VCAN-AS11Oct 9, 2020
VCL47Nov 30, 2020
VHL229Nov 30, 2020
VMA211Oct 9, 2020
VPS13B152Nov 30, 2020
VPS33B2Oct 9, 2020
VPS351Nov 30, 2020
VRK14Nov 30, 2020
VRK21Oct 9, 2020
VWF3Oct 9, 2020
WAC4Oct 9, 2020
WARS25Oct 9, 2020
WASHC41Nov 30, 2020
WASHC53Oct 9, 2020
WDFY33Oct 9, 2020
WDFY3-AS12Oct 9, 2020
WDR192Oct 9, 2020
WDR266Oct 9, 2020
WDR352Oct 9, 2020
WDR4515Nov 30, 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
XRCC2111Nov 30, 2020
XYLT11Oct 9, 2020
XYLT22Oct 9, 2020
YARS23Oct 9, 2020
YIF1B3Oct 9, 2020
YWHAG1Oct 9, 2020
YY14Oct 9, 2020
ZBTB188Oct 9, 2020
ZBTB208Nov 30, 2020
ZC4H210Nov 30, 2020
ZDHHC241Oct 9, 2020
ZDHHC95Nov 30, 2020
ZEB251Nov 30, 2020
ZFHX32Nov 30, 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
ZNF3354Nov 30, 2020
ZNF4071Oct 9, 2020
ZNF4112Nov 30, 2020
ZNF4622Oct 9, 2020
ZNF6272Oct 9, 2020
ZNF6743Nov 30, 2020
ZNF7117Nov 30, 2020
ZNF819Nov 30, 2020
ZSWIM61Oct 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 leukemia19 tests
Acute myeloid leukemia8 tests
Adams-Oliver syndrome 53 tests
Adrenocortical carcinoma, hereditary33 tests
Alagille syndrome 12 tests
Albinism, ocular, with sensorineural deafness6 tests
Alpha-B crystallinopathy3 tests
Amyloidogenic transthyretin amyloidosis7 tests
Andersen Tawil syndrome4 tests
Angiokeratoma corporis diffusum5 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 disease 13 tests
Aplastic anemia20 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 syndrome25 tests
Ataxia-telangiectasia-like disorder16 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
Bannayan-Riley-Ruvalcaba syndrome27 tests
Basal cell carcinoma, susceptibility to, 18 tests
Basal cell carcinoma, susceptibility to, 733 tests
Becker muscular dystrophy5 tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy7 tests
Blepharocheilodontic syndrome21 tests
Bloom syndrome4 tests
Bone osteosarcoma36 tests
Breast-ovarian cancer, familial 127 tests
Breast-ovarian cancer, familial 230 tests
Breast-ovarian cancer, familial 315 tests
Breast-ovarian cancer, familial 417 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 colon39 tests
Carcinoma of pancreas42 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 papilloma33 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 1017 tests
Cone-rod dystrophy, X-linked 11 test
Congenital bilateral aplasia of vas deferens from CFTR mutation4 tests
Congenital central hypoventilation11 tests
Congenital contractural arachnodactyly3 tests
Congenital long QT syndrome4 tests
Congenital muscular dystrophy, LMNA-related7 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A44 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B44 tests
Conotruncal heart malformations6 tests
Cowden syndrome8 tests
Cowden syndrome 127 tests
Cowden syndrome 38 tests
Cutaneous malignant melanoma 127 tests
Cutaneous malignant melanoma 223 tests
Cutaneous malignant melanoma 318 tests
Cutaneous malignant melanoma 86 tests
Cutaneous malignant melanoma 92 tests
Cystic fibrosis4 tests
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome17 tests
Danon disease6 tests
Deafness, autosomal dominant 104 tests
Deafness, autosomal recessive 976 tests
Desmoid disease, hereditary23 tests
Developmental delay2 tests
DiGeorge Syndrome2 tests
Diabetes mellitus type 11 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 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 81 test
Diamond-Blackfan anemia 91 test
Diarrhea 5, with tufting enteropathy, congenital29 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, 31 test
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 circulating creatine kinase concentration4 tests
Emery-Dreifuss muscular dystrophy 1, X-linked3 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive7 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant6 tests
Endemic goiter8 tests
Endometrial carcinoma38 tests
Epidermal nevus5 tests
Epidermal nevus syndrome6 tests
Epileptic encephalopathy, early infantile, 523 tests
Erythrocytosis, familial, 211 tests
FG syndrome 13 tests
FG syndrome 23 tests
Familial adenomatous polyposis 123 tests
Familial adenomatous polyposis 32 tests
Familial atrial myxoma6 tests
Familial cancer of breast47 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 medullary thyroid carcinoma7 tests
Familial partial lipodystrophy 27 tests
Familial prostate carcinoma2 tests
Familial restrictive cardiomyopathy 16 tests
Familial restrictive cardiomyopathy 36 tests
Fanconi anemia, complementation group C4 tests
Fanconi anemia, complementation group D130 tests
Fanconi anemia, complementation group J15 tests
Fanconi anemia, complementation group N25 tests
Fanconi anemia, complementation group O15 tests
Fanconi anemia, complementation group S27 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
Fragile X syndrome1 test
Friedreich ataxia 15 tests
Frontometaphyseal dysplasia3 tests
Fumarase deficiency9 tests
Gastrointestinal stroma tumor8 tests
Geleophysic dysplasia 23 tests
Generalized epilepsy with febrile seizures plus, type 14 tests
Generalized juvenile polyposis/juvenile polyposis coli14 tests
Gingival fibromatosis 11 test
Glioma susceptibility 133 tests
Glioma susceptibility 227 tests
Glioma susceptibility 330 tests
Glioma susceptibility 96 tests
Glucocorticoid deficiency 54 tests
Glycogen storage disease of heart, lethal congenital5 tests
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors9 tests
Gorlin syndrome7 tests
Heart-hand syndrome, Slovenian type7 tests
Hepatic adenomas, familial1 test
Hepatocellular carcinoma35 tests
Hereditary cancer-predisposing syndrome2 tests
Hereditary diffuse gastric cancer24 tests
Hereditary disease19 tests
Hereditary hemorrhagic telangiectasia1 test
Hereditary hemorrhagic telangiectasia type 11 test
Hereditary leiomyomatosis and renal cell cancer9 tests
Hereditary mixed polyposis syndrome 218 tests
Hereditary nonpolyposis colon cancer1 test
Hereditary nonpolyposis colorectal cancer type 431 tests
Hereditary nonpolyposis colorectal cancer type 531 tests
Hereditary nonpolyposis colorectal cancer type 63 tests
Hereditary nonpolyposis colorectal cancer type 829 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
Jervell and Lange-Nielsen syndrome 14 tests
Jervell and Lange-Nielsen syndrome 24 tests
Joubert syndrome 101 test
Joubert syndrome 326 tests
Juvenile myelomonocytic leukemia6 tests
Juvenile polyposis syndrome8 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome22 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 133 tests
Li-Fraumeni syndrome 224 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 I32 tests
Lynch syndrome II33 tests
MASS syndrome3 tests
MYH-associated polyposis19 tests
MYH7-related late-onset scapuloperoneal muscular dystrophy6 tests
Macrocephaly/autism syndrome27 tests
Macular degeneration, X-linked atrophic1 test
Macular degeneration, early-onset3 tests
Malignant tumor of esophagus3 tests
Malignant tumor of prostate40 tests
Malignant tumor of testis22 tests
Malignant tumor of urinary bladder13 tests
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome17 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
Medulloblastoma32 tests
Melanoma and neural system tumor syndrome23 tests
Melanoma, cutaneous malignant, susceptibility to, 106 tests
Melanoma-pancreatic cancer syndrome23 tests
Melnick-Needles syndrome3 tests
Meningioma, familial28 tests
Mental retardation, autosomal dominant 156 tests
Mental retardation, autosomal dominant 1616 tests
Metachondromatosis6 tests
Microcephaly, normal intelligence and immunodeficiency19 tests
Mitochondrial complex II deficiency, nuclear type 18 tests
Moyamoya disease 53 tests
Muir-Torré syndrome35 tests
Multiple congenital anomalies4 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
Multiple self-healing squamous epithelioma3 tests
Multisystemic smooth muscle dysfunction syndrome3 tests
Muscular dystrophy, limb-girdle, type 2R4 tests
Myhre syndrome22 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 carcinoma33 tests
Naxos disease6 tests
Nemaline myopathy 11, autosomal recessive6 tests
Neoplasm of ovary21 tests
Neoplasm of stomach26 tests
Neuroblastoma 28 tests
Neuroblastoma 34 tests
Neurocutaneous melanocytosis5 tests
Neurofibromatosis, type 119 tests
Neurofibromatosis, type 27 tests
Neurogenic scapuloperoneal syndrome, Kaeser type4 tests
Nijmegen breakage syndrome-like disorder14 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
Oto-palato-digital syndrome, type I3 tests
Oto-palato-digital syndrome, type II3 tests
Pancreatic agenesis 11 test
Pancreatic cancer 230 tests
Pancreatic cancer 325 tests
Pancreatic cancer 427 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 syndrome22 tests
Pheochromocytoma12 tests
Pigmented nodular adrenocortical disease, primary, 16 tests
Pilomatrixoma19 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, 916 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 carcinoma3 tests
Renal cell carcinoma, nonpapillary13 tests
Renal cell carcinoma, papillary, 13 tests
Renal cysts and diabetes syndrome1 test
Retinal dystrophy, reticular pigmentary, of posterior pole17 tests
Retinitis pigmentosa 151 test
Retinitis pigmentosa 231 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 216 tests
Rhabdomyosarcoma, embryonal, 217 tests
Rippling muscle disease4 tests
Rippling muscle disease 24 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-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 carcinoma7 tests
Somatotroph adenoma4 tests
Spinocerebellar ataxia type 19/224 tests
Squamous cell carcinoma of the head and neck27 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
Thyroid cancer, nonmedullary, 25 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 syndrome37 tests
Type 2 diabetes mellitus1 test
VACTERL association with hydrocephalus27 tests
Velocardiofacial syndrome2 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 130 tests
Wolff-Parkinson-White pattern5 tests
X-linked mental retardation with marfanoid habitus syndrome3 tests
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