ARUP Laboratories, Molecular Genetics and Genomics (ARUP Laboratories)

General information

ARUP Laboratories, Molecular Genetics and Genomics
ARUP Laboratories
500 Chipeta Way
Salt Lake City
Utah
United States - 84108
http://www.aruplab.com/genetics
Organization ID: 25969

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 14340

Gene

GeneSubmissionsLast Updated
AARS117Dec 11, 2020
ABCA446Dec 11, 2020
ABCB61Dec 11, 2020
ABCB72Dec 11, 2020
ABCC923Dec 11, 2020
ABCD132Dec 11, 2020
ABCD41Oct 10, 2018
ACACA1Aug 5, 2019
ACACB2Dec 11, 2020
ACAD94Aug 5, 2019
ACADL3Dec 11, 2020
ACADM97Dec 11, 2020
ACADS4Dec 11, 2020
ACADVL113Dec 11, 2020
ACAT11Oct 10, 2018
ACD1Dec 11, 2020
ACOX32Dec 11, 2020
ACSF35Aug 5, 2019
ACTA11Aug 5, 2019
ACTA25Dec 11, 2020
ACTC12Dec 11, 2020
ACTG16Dec 11, 2020
ACTN28Dec 11, 2020
ACVRL1112Dec 11, 2020
ADA10Dec 11, 2020
ADA24Dec 11, 2020
ADAMTSL11Dec 11, 2020
ADGRV158Dec 11, 2020
AFG3L21Dec 11, 2020
AGL2Dec 11, 2020
AGPS9Dec 11, 2020
AHNAK21Dec 11, 2020
AICDA2Oct 10, 2018
AIFM12Dec 11, 2020
AIPL19Dec 11, 2020
AK16Dec 11, 2020
AKAP937Dec 11, 2020
AKT13Dec 11, 2020
ALDOA6Dec 11, 2020
ALG111Dec 11, 2020
ALK14Dec 11, 2020
ALPL24Dec 11, 2020
ALS25Dec 11, 2020
AMER11Oct 10, 2018
AMN4Aug 5, 2019
ANAPC151Dec 11, 2020
ANK178Dec 11, 2020
ANK256Dec 11, 2020
ANKRD18Dec 11, 2020
AOPEP1Jun 30, 2017
APC99Dec 11, 2020
APC21Dec 11, 2020
APOB1Dec 11, 2020
APTX5Dec 11, 2020
ARCN11Jan 15, 2020
ARFGEF21Aug 5, 2019
ARHGAP271Dec 11, 2020
ARHGAP41Dec 11, 2020
ARHGEF1014Dec 11, 2020
ARL6IP61Dec 11, 2020
ARSL14Dec 11, 2020
ASB111Dec 11, 2020
ASB161Dec 11, 2020
ASB16-AS11Dec 11, 2020
ASH1L1Feb 13, 2018
ASS118Dec 11, 2020
ATF7IP21Dec 11, 2020
ATL13Dec 11, 2020
ATM96Dec 11, 2020
ATP13A21Dec 11, 2020
ATP7A15Dec 11, 2020
ATP7B132Dec 11, 2020
ATP8A21Dec 11, 2020
ATPAF25Aug 5, 2019
ATR14Dec 11, 2020
ATRX3Dec 11, 2020
AXIN214Dec 11, 2020
B3GALT11Dec 11, 2020
B3GALT1-AS11Dec 11, 2020
B3GALT61Dec 11, 2020
BAG317Dec 11, 2020
BAP18Dec 11, 2020
BARD118Dec 11, 2020
BCAR32Dec 11, 2020
BCKDHA4Dec 11, 2020
BCKDHB1Oct 10, 2018
BCS1L1Dec 11, 2020
BEST17Dec 11, 2020
BGN1Dec 11, 2020
BICD211Dec 11, 2020
BLNK7Dec 11, 2020
BMPR1A11Dec 11, 2020
BMPR238Dec 11, 2020
BRAF8Dec 11, 2020
BRCA1209Dec 11, 2020
BRCA2396Dec 11, 2020
BRIP129Dec 11, 2020
BSCL26Dec 11, 2020
BTD16Dec 11, 2020
BTK9Dec 11, 2020
C10orf1054Dec 11, 2020
C11orf6529Dec 11, 2020
C3orf801Oct 10, 2018
C62Dec 11, 2020
C9orf1311Dec 11, 2020
CA44Aug 5, 2019
CACNA1A3Dec 11, 2020
CACNA1C37Dec 11, 2020
CACNA1C-AS117Dec 11, 2020
CACNA1C-AS21Dec 11, 2020
CACNA1S1Aug 5, 2019
CACNB29Dec 11, 2020
CAMK2D1Aug 5, 2019
CANT13Dec 11, 2020
CARD117Dec 11, 2020
CARD11-AS11Dec 11, 2020
CARD142Dec 11, 2020
CASK1Oct 10, 2018
CASQ29Dec 11, 2020
CAV15Dec 11, 2020
CAV36Dec 11, 2020
CBL13Dec 11, 2020
CBLIF4Dec 11, 2020
CBS34Dec 11, 2020
CCBE14Dec 11, 2020
CCDC1701Dec 11, 2020
CCDC502Oct 10, 2018
CCM212Dec 11, 2020
CCNH26Dec 11, 2020
CCT53Dec 11, 2020
CD1910Dec 11, 2020
CD3201Jun 30, 2017
CD407Dec 11, 2020
CD40LG7Dec 11, 2020
CD79A2Jun 30, 2017
CD812Aug 5, 2019
CDAN128Dec 11, 2020
CDH136Dec 11, 2020
CDH2339Dec 11, 2020
CDH23-AS12Dec 11, 2020
CDHR19Dec 11, 2020
CDK201Dec 11, 2020
CDK5RAP21Aug 5, 2019
CDKN1B2Dec 11, 2020
CDKN2A4Dec 11, 2020
CDON6Dec 11, 2020
CEACAM165Dec 11, 2020
CEP29021Dec 11, 2020
CEP85L2Dec 11, 2020
CERKL2Aug 5, 2019
CFAP2981Dec 11, 2020
CFAP298-TCP10L1Dec 11, 2020
CFAP4183Dec 11, 2020
CFAP418-AS11Dec 11, 2020
CFAP471Dec 11, 2020
CFAP531Dec 11, 2020
CFAP921Oct 10, 2018
CFTR347Dec 11, 2020
CFTR-AS145Dec 11, 2020
CHD61Dec 11, 2020
CHD733Dec 11, 2020
CHD81Aug 5, 2019
CHEK217Dec 11, 2020
CHM2Dec 11, 2020
CHRNA41Dec 11, 2020
CHRNA91Dec 11, 2020
CHRNG1Oct 10, 2018
CHUK1Aug 5, 2019
CILK110Dec 11, 2020
CLDN142Dec 11, 2020
CLDN21Dec 11, 2020
CLN62Dec 11, 2020
CLRN12Aug 5, 2019
CLRN1-AS11Aug 5, 2019
CLTC1Aug 5, 2019
CNGA13Aug 5, 2019
CNGB119Dec 11, 2020
COCH6Aug 5, 2019
COL11A218Dec 11, 2020
COL12A11Dec 11, 2020
COL1A173Dec 11, 2020
COL1A253Dec 11, 2020
COL2A174Dec 11, 2020
COL3A156Dec 11, 2020
COL4A11Aug 5, 2019
COL4A31Aug 5, 2019
COL4A525Dec 11, 2020
COL5A188Dec 11, 2020
COL5A255Dec 11, 2020
COL6A11Dec 11, 2020
COL6A22Dec 11, 2020
COL6A51Dec 11, 2020
COL8A11Dec 11, 2020
COL9A11Dec 11, 2020
COL9A21Aug 5, 2019
COL9A32Dec 11, 2020
COMP17Dec 11, 2020
COQ23Dec 11, 2020
COQ8A4Aug 5, 2019
COQ93Aug 5, 2019
CORIN5Aug 5, 2019
COX103Dec 11, 2020
COX153Aug 5, 2019
COX4I22Aug 5, 2019
CPT1A7Dec 11, 2020
CPT25Dec 11, 2020
CR12Dec 11, 2020
CR218Dec 11, 2020
CRB113Dec 11, 2020
CRTAP12Dec 11, 2020
CRX4Dec 11, 2020
CRYAB3Dec 11, 2020
CRYM1Oct 10, 2018
CSRP37Dec 11, 2020
CTC111Jun 30, 2017
CTCF1Aug 5, 2019
CTF12Aug 5, 2019
CTLA41Aug 5, 2019
CTNS2Dec 11, 2020
CTRC76Dec 11, 2020
CUBN37Dec 11, 2020
CUL4B1Aug 5, 2019
CXCR41Dec 11, 2020
CYB5R313Dec 11, 2020
CYBB2Dec 11, 2020
CYCS1Aug 5, 2019
CYGB1Oct 10, 2018
DARS22Dec 11, 2020
DBT6Dec 11, 2020
DCHS13Dec 11, 2020
DCLRE1C8Dec 11, 2020
DCP21Dec 11, 2020
DCTN114Dec 11, 2020
DDOST1Dec 11, 2020
DDR210Dec 11, 2020
DDX521Dec 11, 2020
DEAF11Dec 11, 2020
DES11Dec 11, 2020
DGUOK3Dec 11, 2020
DHCR727Dec 11, 2020
DHFR6Dec 11, 2020
DHRS4L11Dec 11, 2020
DHTKD116Dec 11, 2020
DIAPH11Oct 10, 2018
DICER121Dec 11, 2020
DIPK1A1Jun 30, 2017
DISP118Dec 11, 2020
DKC11Jun 30, 2017
DLAT4Aug 5, 2019
DLD5Dec 11, 2020
DLG41Oct 10, 2018
DLL328Dec 11, 2020
DMD157Dec 11, 2020
DNAJB22Dec 11, 2020
DNASE11Dec 11, 2020
DNM1L2Aug 5, 2019
DNM217Dec 11, 2020
DNMT133Dec 11, 2020
DNMT3B7Dec 11, 2020
DRD21Dec 11, 2020
DRP21Dec 11, 2020
DSC211Dec 11, 2020
DSCAS1Aug 5, 2019
DSG223Dec 11, 2020
DSG2-AS15Dec 11, 2020
DSP47Dec 11, 2020
DSPP9Dec 11, 2020
DST1Dec 11, 2020
DTNA10Dec 11, 2020
DUSP294Dec 11, 2020
DVL21Dec 11, 2020
DYNC1H127Dec 11, 2020
DYNC2H1110Dec 11, 2020
DYSF1Dec 11, 2020
EAPP1Dec 11, 2020
EBP5Aug 5, 2019
EDA3Dec 11, 2020
EDAR2Dec 11, 2020
EDARADD4Dec 11, 2020
EFEMP214Dec 11, 2020
EFHC12Dec 11, 2020
EGR26Dec 11, 2020
EIF2AK442Dec 11, 2020
ELAC21Dec 11, 2020
ELANE15Dec 11, 2020
ELMO21Dec 11, 2020
ELP126Dec 11, 2020
EMD2Oct 10, 2018
EML61Dec 11, 2020
ENG114Dec 11, 2020
EPB4113Dec 11, 2020
EPB4219Dec 11, 2020
EPHB431Dec 11, 2020
EPPK11Dec 11, 2020
ERCC63Dec 11, 2020
ERMARD1Dec 11, 2020
ESPN7Dec 11, 2020
ESRRB4Aug 5, 2019
ETFA1Dec 11, 2020
ETFB2Oct 10, 2018
ETHE11Aug 5, 2019
EVC47Dec 11, 2020
EVC265Dec 11, 2020
EXD31Aug 5, 2019
EXT21Dec 11, 2020
EYA49Dec 11, 2020
EYS25Dec 11, 2020
F111Dec 11, 2020
F8153Dec 11, 2020
F977Dec 11, 2020
FAM161A2Aug 5, 2019
FANCA21Jun 30, 2017
FANCB2Jun 30, 2017
FANCC1Jun 30, 2017
FANCD216Jun 30, 2017
FANCD2OS1Jun 30, 2017
FANCE2Jun 30, 2017
FANCG2Jun 30, 2017
FANCI10Dec 11, 2020
FANCL3Jun 30, 2017
FANCM8Jun 30, 2017
FARS21Dec 11, 2020
FASTKD21Oct 10, 2018
FAT417Dec 11, 2020
FBLN21Dec 11, 2020
FBLN57Dec 11, 2020
FBN1198Dec 11, 2020
FBN2104Dec 11, 2020
FBXL41Aug 5, 2019
FBXO411Aug 5, 2019
FGD49Dec 11, 2020
FGF81Aug 5, 2019
FGFR118Dec 11, 2020
FGFR216Dec 11, 2020
FGFR342Dec 11, 2020
FH11Dec 11, 2020
FHL15Dec 11, 2020
FIG413Dec 11, 2020
FKBP1022Dec 11, 2020
FKRP12Dec 11, 2020
FKTN12Dec 11, 2020
FLCN27Dec 11, 2020
FLNA100Dec 11, 2020
FLNB79Dec 11, 2020
FLNB-AS13Dec 11, 2020
FLT411Dec 11, 2020
FNBP1L1Dec 11, 2020
FOXC24Dec 11, 2020
FOXC2-AS12Dec 11, 2020
FOXH14Dec 11, 2020
FOXN12Jun 30, 2017
FOXO41Dec 11, 2020
FSCN24Aug 5, 2019
FTH11Dec 11, 2020
FXN5Dec 11, 2020
G6PC11Jun 30, 2017
G6PD48Dec 11, 2020
GAA30Dec 11, 2020
GABBR21Dec 11, 2020
GABRA31Dec 11, 2020
GAL3ST31Dec 11, 2020
GAL3ST41Dec 11, 2020
GALC1Jun 30, 2017
GALNS1Aug 5, 2019
GALT38Dec 11, 2020
GAMT3Aug 5, 2019
GAN4Dec 11, 2020
GAREM24Dec 11, 2020
GARS16Dec 11, 2020
GATA24Dec 11, 2020
GATM2Dec 11, 2020
GBA1Dec 11, 2020
GBE11Dec 11, 2020
GCLC15Dec 11, 2020
GDAP12Dec 11, 2020
GDF29Dec 11, 2020
GDF54Dec 11, 2020
GDF5-AS12Dec 11, 2020
GFM16Dec 11, 2020
GH-LCR1Aug 5, 2019
GIPC31Aug 5, 2019
GJB17Dec 11, 2020
GJB261Dec 11, 2020
GJB38Dec 11, 2020
GJC25Dec 11, 2020
GJD2-DT2Dec 11, 2020
GLA5Dec 11, 2020
GLB11Dec 11, 2020
GLI219Dec 11, 2020
GLI37Dec 11, 2020
GLMN9Dec 11, 2020
GNPAT19Dec 11, 2020
GNPTAB1Dec 11, 2020
GP1BA2Dec 11, 2020
GP61Oct 10, 2018
GPD1L2Aug 5, 2019
GPHN1Aug 5, 2019
GPI9Apr 14, 2021
GPR191Dec 11, 2020
GPSM25Aug 5, 2019
GRHL22Dec 11, 2020
GSDME3Dec 11, 2020
GSR21Dec 11, 2020
GSS9Dec 11, 2020
GUCA1B1Aug 5, 2019
GUCY2D15Dec 11, 2020
GUSB1Oct 10, 2018
HACL11Oct 10, 2018
HADH1Oct 10, 2018
HADHA5Dec 11, 2020
HARS110Dec 11, 2020
HARS21Oct 10, 2018
HBA149Dec 11, 2020
HBA264Dec 11, 2020
HBB191Dec 11, 2020
HCFC14Dec 11, 2020
HDAC41Dec 11, 2020
HELLS2Dec 11, 2020
HEXA18Dec 11, 2020
HEXIM21Dec 11, 2020
HGSNAT1Dec 11, 2020
HINT12Aug 5, 2019
HK130Dec 11, 2020
HMGCS24Aug 5, 2019
HNF1A1Dec 11, 2020
HNF1B1Dec 11, 2020
HNRNPUL2-BSCL26Dec 11, 2020
HOXD106Dec 11, 2020
HRAS6Dec 11, 2020
HSD17B49Dec 11, 2020
HSPB16Dec 11, 2020
HSPB33Aug 5, 2019
HSPB86Dec 11, 2020
HSPD11Dec 11, 2020
HSPG2183Dec 11, 2020
HTR2B1Oct 10, 2018
HUWE11Aug 5, 2019
ICAM51Dec 11, 2020
ICOS5Dec 11, 2020
IDH3B1Oct 10, 2018
IDUA2Dec 11, 2020
IFIH11Dec 11, 2020
IFNAR21Dec 11, 2020
IFT8013Dec 11, 2020
IGH4Aug 5, 2019
IGHM4Aug 5, 2019
IGHMBP232Dec 11, 2020
IGLL114Dec 11, 2020
IKBKG7Dec 11, 2020
IKZF11Aug 5, 2019
IL21R7Dec 11, 2020
IL21R-AS12Dec 11, 2020
ILF31Dec 11, 2020
ILK3Aug 5, 2019
IMPDH14Aug 5, 2019
IMPG23Dec 11, 2020
INF239Dec 11, 2020
INO804Dec 11, 2020
INO80-AS11Dec 11, 2020
INSR31Dec 11, 2020
IPP1Aug 5, 2019
IQSEC21Aug 5, 2019
IRF2BP25Dec 11, 2020
ISCU1Oct 10, 2018
JAG11Aug 5, 2019
JAK31Jun 30, 2017
JPH26Dec 11, 2020
JUP21Dec 11, 2020
KARS19Dec 11, 2020
KAT2B1Dec 11, 2020
KAT6B9Dec 11, 2020
KCNA58Dec 11, 2020
KCNE16Dec 11, 2020
KCNE24Dec 11, 2020
KCNE33Aug 5, 2019
KCNH226Dec 11, 2020
KCNJ27Dec 11, 2020
KCNK35Dec 11, 2020
KCNQ125Dec 11, 2020
KCNQ1-AS16Dec 11, 2020
KCNQ1OT12Dec 11, 2020
KCNQ23Dec 11, 2020
KCNQ42Aug 5, 2019
KCNT12Dec 11, 2020
KCP2Dec 11, 2020
KDM4B1Dec 11, 2020
KDM6A2Aug 5, 2019
KIAA05861Dec 11, 2020
KIAA07532Jun 30, 2017
KIAA12172Dec 11, 2020
KIF1A41Dec 11, 2020
KIF1B23Dec 11, 2020
KIF5A16Dec 11, 2020
KIZ4Dec 11, 2020
KLHL31Oct 10, 2018
KLHL71Dec 11, 2020
KLLN1Jun 30, 2017
KMT2D36Dec 11, 2020
KRAS4Dec 11, 2020
KRIT112Dec 11, 2020
LAMA432Dec 11, 2020
LAMA4-AS11Dec 11, 2020
LAMP22Dec 11, 2020
LARS27Dec 11, 2020
LARS2-AS11Dec 11, 2020
LBR18Dec 11, 2020
LCA54Aug 5, 2019
LDB324Dec 11, 2020
LDLR3Dec 11, 2020
LDLRAD215Dec 11, 2020
LIFR29Dec 11, 2020
LIFR-AS11Aug 5, 2019
LIG41Dec 11, 2020
LINC006309Dec 11, 2020
LIPT21Aug 5, 2019
LITAF3Dec 11, 2020
LMBRD11Oct 10, 2018
LMNA26Dec 11, 2020
LOC10028958068Dec 11, 2020
LOC1005060716Aug 5, 2019
LOC1005073462Dec 11, 2020
LOC10144820221Dec 11, 2020
LOC1019270559Dec 11, 2020
LOC1019271573Aug 5, 2019
LOC1019280087Dec 11, 2020
LOC1019282221Dec 11, 2020
LOC10272356634Dec 11, 2020
LOC10537104944Dec 11, 2020
LOC10537156631Dec 11, 2020
LOC1053717951Dec 11, 2020
LOC1053783112Dec 11, 2020
LOC106099062126Dec 11, 2020
LOC1066279811Dec 11, 2020
LOC10680461263Dec 11, 2020
LOC10680461350Dec 11, 2020
LOC1070805551Dec 11, 2020
LOC107133510192Dec 11, 2020
LOC1071812881Aug 5, 2019
LOC10730333815Jun 30, 2017
LOC1073033407Dec 11, 2020
LOC1073033432Dec 11, 2020
LOC1079822342Dec 11, 2020
LOC1079880326Dec 11, 2020
LOC1080218465Dec 11, 2020
LOC1089031481Dec 11, 2020
LOC1096115894Dec 11, 2020
LOC11000631970Dec 11, 2020
LOC1100112163Dec 11, 2020
LOC1101212695Dec 11, 2020
LOC1101214863Dec 11, 2020
LOC1108063061Jun 30, 2017
LOC1116744633Dec 11, 2020
LOC11167447231Dec 11, 2020
LOC1116744759Dec 11, 2020
LOC11167447713Dec 11, 2020
LOC1118119652Aug 5, 2019
LOC1124862231Jun 30, 2017
LOC1125774862Dec 11, 2020
LOC1126947566Dec 11, 2020
LOC1129975402Dec 11, 2020
LOC1136338771Dec 11, 2020
LOC1139399443Aug 5, 2019
LOC1148278501Jun 30, 2017
LOC1148278516Dec 11, 2020
LOX2Aug 5, 2019
LOXHD110Dec 11, 2020
LPIN251Dec 11, 2020
LRBA27Dec 11, 2020
LRP1B1Dec 11, 2020
LRPPRC8Dec 11, 2020
LRRC21Oct 10, 2018
LRRC512Aug 5, 2019
LRRC566Dec 11, 2020
LRRC8A9Dec 11, 2020
LRRN41Dec 11, 2020
LRSAM17Dec 11, 2020
LRTOMT3Dec 11, 2020
LZTR112Dec 11, 2020
MAGEL21Aug 5, 2019
MALT12Dec 11, 2020
MAN2B11Jun 30, 2017
MAP2K16Dec 11, 2020
MAP2K28Dec 11, 2020
MAP3K149Dec 11, 2020
MAP3K14-AS13Dec 11, 2020
MARS114Dec 11, 2020
MASP12Aug 5, 2019
MAT1A4Dec 11, 2020
MATN31Dec 11, 2020
MCCC21Aug 5, 2019
MCEE2Aug 5, 2019
MECP232Dec 11, 2020
MED13L2Dec 11, 2020
MED2517Dec 11, 2020
MEF2C1Aug 5, 2019
MEFV104Dec 11, 2020
MEN154Dec 11, 2020
MERTK12Dec 11, 2020
MET12Dec 11, 2020
MFF-DT1Aug 5, 2019
MFN220Dec 11, 2020
MHRT5Dec 11, 2020
MID11Aug 5, 2019
MILR12Dec 11, 2020
MIR6511B12Dec 11, 2020
MIR67661Dec 11, 2020
MIR67951Dec 11, 2020
MLH137Dec 11, 2020
MMAA3Aug 5, 2019
MMAB5Dec 11, 2020
MMACHC6Aug 5, 2019
MMADHC1Oct 10, 2018
MMUT12Dec 11, 2020
MOGS4Dec 11, 2020
MORC25Dec 11, 2020
MPV171Oct 10, 2018
MPZ9Dec 11, 2020
MRE1115Dec 11, 2020
MRGPRF1Dec 11, 2020
MRPL361Aug 5, 2019
MRPS223Dec 11, 2020
MS4A12Aug 5, 2019
MSH251Dec 11, 2020
MSH320Dec 11, 2020
MSH668Dec 11, 2020
MT-ATP65Oct 10, 2018
MT-ATP81Oct 10, 2018
MT-CO11Oct 10, 2018
MT-CO23Oct 10, 2018
MT-CO34Oct 10, 2018
MT-CYB2Oct 10, 2018
MT-ND13Oct 10, 2018
MT-ND22Oct 10, 2018
MT-ND32Oct 10, 2018
MT-ND43Oct 10, 2018
MT-ND4L1Oct 10, 2018
MT-ND53Oct 10, 2018
MT-ND62Oct 10, 2018
MT-RNR11Oct 10, 2018
MT-TC1Oct 10, 2018
MT-TE1Oct 10, 2018
MT-TH1Oct 10, 2018
MT-TI2Oct 10, 2018
MT-TK1Oct 10, 2018
MT-TL12Oct 10, 2018
MT-TS21Jun 30, 2017
MT-TV1Oct 10, 2018
MTHFR7Dec 11, 2020
MTMR29Dec 11, 2020
MTR11Dec 11, 2020
MTRR14Dec 11, 2020
MUS811Aug 5, 2019
MUTYH31Jul 14, 2021
MVK31Dec 11, 2020
MYBPC338Dec 11, 2020
MYBPHL1Dec 11, 2020
MYCL1Aug 5, 2019
MYH104Aug 5, 2019
MYH1187Dec 11, 2020
MYH1434Dec 11, 2020
MYH653Dec 11, 2020
MYH735Dec 11, 2020
MYH7B2Dec 11, 2020
MYH99Dec 11, 2020
MYL23Dec 11, 2020
MYL32Aug 5, 2019
MYLK74Dec 11, 2020
MYLK-AS19Dec 11, 2020
MYLK25Aug 5, 2019
MYO15A44Dec 11, 2020
MYO1A4Dec 11, 2020
MYO1H1Dec 11, 2020
MYO3A15Dec 11, 2020
MYO610Dec 11, 2020
MYO7A23Dec 11, 2020
MYOT8Dec 11, 2020
MYOZ22Dec 11, 2020
MYPN18Dec 11, 2020
NAA101Dec 11, 2020
NADSYN11Dec 11, 2020
NAGLU1Dec 11, 2020
NBN22Dec 11, 2020
NCAPH22Dec 11, 2020
NDE144Dec 11, 2020
NDRG19Dec 11, 2020
NDUFA11Oct 10, 2018
NDUFA111Oct 10, 2018
NDUFAF11Aug 5, 2019
NDUFAF22Aug 5, 2019
NDUFAF42Aug 5, 2019
NDUFAF54Aug 5, 2019
NDUFS13Dec 11, 2020
NDUFS23Dec 11, 2020
NDUFS32Aug 5, 2019
NDUFS41Oct 10, 2018
NDUFS61Aug 5, 2019
NDUFS71Oct 10, 2018
NDUFV23Dec 11, 2020
NEFL7Dec 11, 2020
NEK132Dec 11, 2020
NEXN4Dec 11, 2020
NF1195Dec 11, 2020
NF21Aug 5, 2019
NFKB14Dec 11, 2020
NFKB29Dec 11, 2020
NFKBIA6Dec 11, 2020
NFKBIZ1Dec 11, 2020
NGF3Dec 11, 2020
NGF-AS13Dec 11, 2020
NHS2Dec 11, 2020
NHSL21Dec 11, 2020
NLGN4X2Dec 11, 2020
NLRP1242Dec 11, 2020
NLRP348Dec 11, 2020
NMNAT12Aug 5, 2019
NOD247Dec 11, 2020
NODAL2Aug 5, 2019
NOTCH3135Dec 11, 2020
NOTUM1Dec 11, 2020
NPC14Dec 11, 2020
NR2E38Dec 11, 2020
NRAP1Dec 11, 2020
NRL12Dec 11, 2020
NSUN68Dec 11, 2020
NT5C3A8Dec 11, 2020
NTHL11Aug 5, 2019
NTRK117Dec 11, 2020
OBSCN21Dec 11, 2020
OCRL1Dec 11, 2020
OPA15Dec 11, 2020
OPA1-AS11Dec 11, 2020
OPTN1Dec 11, 2020
OR10Z11Aug 5, 2019
OTC12Aug 5, 2019
OTOA3Aug 5, 2019
OTOF28Dec 11, 2020
OXCT14Dec 11, 2020
P3H134Dec 11, 2020
PABPC1L1Dec 11, 2020
PALB229Dec 11, 2020
PARD3B3Dec 11, 2020
PARP93Dec 11, 2020
PC7Dec 11, 2020
PCARE14Dec 11, 2020
PCCA4Dec 11, 2020
PCCB4Oct 10, 2018
PCDH1533Dec 11, 2020
PCDH192Aug 5, 2019
PCK210Dec 11, 2020
PCNT65Dec 11, 2020
PCSK91Dec 11, 2020
PDCD101Jun 30, 2017
PDE3B2Aug 5, 2019
PDE6A12Dec 11, 2020
PDE6B11Dec 11, 2020
PDHX2Dec 11, 2020
PDK32Oct 10, 2018
PDSS11Oct 10, 2018
PDZD71Dec 11, 2020
PEX11Dec 11, 2020
PEX62Dec 11, 2020
PEX79Dec 11, 2020
PFKL12Aug 5, 2019
PFKM18Dec 11, 2020
PGK12Aug 5, 2019
PHF21Dec 11, 2020
PHF33Dec 11, 2020
PHOX2B7Dec 11, 2020
PIEZO1183Dec 11, 2020
PIK3CA3Dec 11, 2020
PIK3CD15Dec 11, 2020
PIK3CG7Dec 11, 2020
PIK3R19Dec 11, 2020
PINK17Dec 11, 2020
PINK1-AS5Dec 11, 2020
PJVK3Dec 11, 2020
PKD1448Dec 11, 2020
PKD258Dec 11, 2020
PKD2L2-DT8Dec 11, 2020
PKLR35Dec 11, 2020
PKP221Dec 11, 2020
PLCG233Dec 11, 2020
PLEKHG21Dec 11, 2020
PLEKHG32Dec 11, 2020
PLEKHG529Dec 11, 2020
PLN2Dec 11, 2020
PLOD143Dec 11, 2020
PLOD322Dec 11, 2020
PMP222Dec 11, 2020
PMS254Dec 11, 2020
PNPLA61Dec 11, 2020
POLD114Dec 11, 2020
POLE47Dec 11, 2020
POLG23Dec 11, 2020
POLG22Dec 11, 2020
POR33Dec 11, 2020
POU3F44Dec 11, 2020
POU4F32Aug 5, 2019
PPIB6Dec 11, 2020
PPM1B1Aug 5, 2019
PRCD1Oct 10, 2018
PRDM161Oct 10, 2018
PREPL1Aug 5, 2019
PRKAG211Dec 11, 2020
PRKCD7Dec 11, 2020
PRKDC6Aug 5, 2019
PRKG116Dec 11, 2020
PRNP6Dec 11, 2020
PROM17Dec 11, 2020
PRPF312Aug 5, 2019
PRPF815Dec 11, 2020
PRPH21Dec 11, 2020
PRPS11Oct 10, 2018
PRSS144Dec 11, 2020
PRX21Dec 11, 2020
PSAP1Dec 11, 2020
PSMD11Oct 10, 2018
PSME31Dec 11, 2020
PSTPIP161Dec 11, 2020
PTCH112Dec 11, 2020
PTCHD13Oct 10, 2018
PTEN39Dec 11, 2020
PTH1R12Dec 11, 2020
PTPN1166Dec 11, 2020
PTPRC14Dec 11, 2020
PUS14Aug 5, 2019
PVALB1Dec 11, 2020
PYGL1Jun 30, 2017
QARS11Dec 11, 2020
RAB33A2Dec 11, 2020
RAB40AL9Dec 11, 2020
RAC21Aug 5, 2019
RAD51C7Dec 11, 2020
RAD51D7Dec 11, 2020
RAD51L3-RFFL7Dec 11, 2020
RAF110Dec 11, 2020
RAG15Dec 11, 2020
RAG26Dec 11, 2020
RALB1Dec 11, 2020
RANBP22Dec 11, 2020
RARS25Aug 5, 2019
RASA134Dec 11, 2020
RASA27Dec 11, 2020
RB19Dec 11, 2020
RBM2020Dec 11, 2020
RD34Dec 11, 2020
RDH121Aug 5, 2019
RECQL6Dec 11, 2020
RECQL41Dec 11, 2020
REEP13Dec 11, 2020
RET51Dec 11, 2020
RETREG18Dec 11, 2020
RETREG1-AS12Dec 11, 2020
RGR1Aug 5, 2019
RHO6Aug 5, 2019
RIPPLY11Dec 11, 2020
RIT14Aug 5, 2019
RLBP15Dec 11, 2020
RMRP2Dec 11, 2020
RNF1684Dec 11, 2020
RNF2131Aug 5, 2019
RNF213-AS11Aug 5, 2019
ROM11Aug 5, 2019
RP117Dec 11, 2020
RP22Aug 5, 2019
RP92Oct 10, 2018
RPE653Dec 11, 2020
RPGR7Dec 11, 2020
RPGRIP116Dec 11, 2020
RPL36A-HNRNPH25Dec 11, 2020
RPL51Jun 30, 2017
RPS152Jun 30, 2017
RPS191Jun 30, 2017
RPS241Jun 30, 2017
RPS6KA31Oct 10, 2018
RPS71Jun 30, 2017
RRM2B1Jun 30, 2017
RUNX12Aug 5, 2019
RUNX29Dec 11, 2020
RYR14Dec 11, 2020
RYR277Dec 11, 2020
SACS1Dec 11, 2020
SAG6Dec 11, 2020
SASH11Dec 11, 2020
SBDS6Jun 30, 2017
SBF152Dec 11, 2020
SBF215Dec 11, 2020
SBF2-AS13Aug 5, 2019
SC5D1Aug 5, 2019
SCN10A2Aug 5, 2019
SCN1A-AS125Dec 11, 2020
SCN1B6Dec 11, 2020
SCN2A1Dec 11, 2020
SCN3A1Dec 11, 2020
SCN3B8Dec 11, 2020
SCN4A1Aug 5, 2019
SCN4B3Dec 11, 2020
SCN5A46Dec 11, 2020
SCN9A29Dec 11, 2020
SCO12Aug 5, 2019
SCO26Dec 11, 2020
SDHA21Dec 11, 2020
SDHAF11Oct 10, 2018
SDHB24Dec 11, 2020
SDHC13Dec 11, 2020
SDHD13Dec 11, 2020
SEC23B23Dec 11, 2020
SECTM11Dec 11, 2020
SEMA4A2Dec 11, 2020
SERPINH111Dec 11, 2020
SETBP11Dec 11, 2020
SETX35Dec 11, 2020
SGCA7Dec 11, 2020
SGCB1Aug 5, 2019
SGCD9Dec 11, 2020
SGCG4Dec 11, 2020
SH3TC221Dec 11, 2020
SHH6Dec 11, 2020
SHOC26Dec 11, 2020
SHOX2Dec 11, 2020
SIX32Dec 11, 2020
SKI33Dec 11, 2020
SLC12A68Dec 11, 2020
SLC12A93Dec 11, 2020
SLC17A51Jun 30, 2017
SLC22A538Dec 11, 2020
SLC25A137Dec 11, 2020
SLC25A152Aug 5, 2019
SLC25A193Oct 10, 2018
SLC25A201Jun 30, 2017
SLC25A226Oct 10, 2018
SLC25A31Oct 10, 2018
SLC25A45Dec 11, 2020
SLC26A223Dec 11, 2020
SLC26A427Dec 11, 2020
SLC26A4-AS13Aug 5, 2019
SLC26A55Dec 11, 2020
SLC2A1018Dec 11, 2020
SLC35D13Aug 5, 2019
SLC38A51Dec 11, 2020
SLC3A17Aug 5, 2019
SLC4A141Dec 11, 2020
SLC5A76Dec 11, 2020
SLC6A83Aug 5, 2019
SLCO1B125Dec 11, 2020
SLCO1B326Dec 11, 2020
SLCO1B3-SLCO1B726Dec 11, 2020
SLX422Jun 30, 2017
SMAD313Dec 11, 2020
SMAD422Dec 11, 2020
SMAD99Dec 11, 2020
SMARCA416Dec 11, 2020
SMARCB12Dec 11, 2020
SMC1A1Dec 11, 2020
SMPD12Dec 11, 2020
SNAPC51Dec 11, 2020
SNHG141Oct 10, 2018
SNRNP20010Dec 11, 2020
SNTA113Dec 11, 2020
SNX224Dec 11, 2020
SNX291Dec 11, 2020
SOD12Dec 11, 2020
SOS144Dec 11, 2020
SOS29Dec 11, 2020
SOX181Dec 11, 2020
SOX916Dec 11, 2020
SPAG52Dec 11, 2020
SPG76Dec 11, 2020
SPINK129Dec 11, 2020
SPRED15Dec 11, 2020
SPTA1115Dec 11, 2020
SPTB98Dec 11, 2020
SPTLC19Dec 11, 2020
SPTLC27Dec 11, 2020
SRMS2Dec 11, 2020
SSBP21Dec 11, 2020
SSUH22Dec 11, 2020
STAT31Dec 11, 2020
STK1119Dec 11, 2020
STRC6Aug 5, 2019
SUCLA23Dec 11, 2020
SUCLG16Aug 5, 2019
SUFU6Dec 11, 2020
SUOX4Aug 5, 2019
SUPT3H1Dec 11, 2020
SURF14Dec 11, 2020
SYCE22Dec 11, 2020
SYNE153Dec 11, 2020
TAF103Aug 5, 2019
TAFAZZIN1Jun 30, 2017
TAMM411Dec 11, 2020
TARDBP1Dec 11, 2020
TARID3Dec 11, 2020
TAS1R21Dec 11, 2020
TBC1D11Dec 11, 2020
TBC1D241May 27, 2015
TBCEL-TECTA20Dec 11, 2020
TBCK1Aug 5, 2019
TBRG11Dec 11, 2020
TCAP3Dec 11, 2020
TCEA21Dec 11, 2020
TCF311Dec 11, 2020
TCIRG11Oct 10, 2018
TCN14Dec 11, 2020
TCN210Dec 11, 2020
TCP11L21Dec 11, 2020
TDGF11Oct 10, 2018
TDP14Dec 11, 2020
TECTA20Dec 11, 2020
TEK22Dec 11, 2020
TERC3Jun 30, 2017
TERT7Jun 30, 2017
TFG11Dec 11, 2020
TGFB210Dec 11, 2020
TGFB39Dec 11, 2020
TGFBR116Dec 11, 2020
TGFBR220Dec 11, 2020
TGIF15Dec 11, 2020
TINF22Jun 30, 2017
TJP21Dec 11, 2020
TK22Dec 11, 2020
TLN22Dec 11, 2020
TMC13Dec 11, 2020
TMEM1271Oct 10, 2018
TMEM4314Dec 11, 2020
TMEM701Oct 10, 2018
TMIE2Aug 5, 2019
TMPO5Dec 11, 2020
TMPRSS132Dec 11, 2020
TMPRSS38Dec 11, 2020
TNFAIP312Dec 11, 2020
TNFRSF13B18Dec 11, 2020
TNFRSF13C6Dec 11, 2020
TNFRSF1A23Dec 11, 2020
TNNC11Aug 5, 2019
TNNI33Dec 11, 2020
TNNT211Dec 11, 2020
TOE11Aug 5, 2019
TOMT1Dec 11, 2020
TOPORS4Dec 11, 2020
TP5336Dec 11, 2020
TPI18Dec 11, 2020
TPM14Dec 11, 2020
TPRN6Dec 11, 2020
TRAP11Dec 11, 2020
TRAPPC101Dec 11, 2020
TRB44Dec 11, 2020
TRDN11Dec 11, 2020
TRIM26Dec 11, 2020
TRIM59-IFT8013Dec 11, 2020
TRIOBP11Dec 11, 2020
TRIP1145Dec 11, 2020
TRMU9Dec 11, 2020
TRNT11Dec 11, 2020
TRPM431Dec 11, 2020
TRPV439Dec 11, 2020
TSC123Dec 11, 2020
TSC257Dec 11, 2020
TSPAN71Oct 10, 2018
TTC21B37Dec 11, 2020
TTC21B-AS14Dec 11, 2020
TTC374Dec 11, 2020
TTC83Aug 5, 2019
TTN492Dec 11, 2020
TTN-AS1254Dec 11, 2020
TTR27Dec 11, 2020
TUBB4A1Dec 11, 2020
TUBB61Dec 11, 2020
TUFM2Aug 5, 2019
TULP19Dec 11, 2020
TWNK3Dec 11, 2020
TYMP5Dec 11, 2020
UBE2A1Jun 30, 2017
UBE3A1Oct 10, 2018
UBR41Dec 11, 2020
UGT1A40Dec 11, 2020
UGT1A114Dec 11, 2020
UGT1A1040Dec 11, 2020
UGT1A315Dec 11, 2020
UGT1A415Dec 11, 2020
UGT1A515Dec 11, 2020
UGT1A626Dec 11, 2020
UGT1A739Dec 11, 2020
UGT1A840Dec 11, 2020
UGT1A940Dec 11, 2020
UNG1Oct 10, 2018
UPP12Dec 11, 2020
UQCRB1Aug 5, 2019
UQCRQ1Oct 10, 2018
USH1C17Dec 11, 2020
USH1G4Aug 5, 2019
USH2A97Dec 11, 2020
USH2A-AS16Dec 11, 2020
USH2A-AS24Dec 11, 2020
VANGL12Dec 11, 2020
VAV112Dec 11, 2020
VAV21Dec 11, 2020
VCL18Dec 11, 2020
VCP2Jun 30, 2017
VEGFC2Dec 11, 2020
VHL10Dec 11, 2020
VRK22Jun 30, 2017
VWF80Dec 11, 2020
WAC1Aug 5, 2019
WASHC41Oct 10, 2018
WDR1931Dec 11, 2020
WDR3523Dec 11, 2020
WFS145Dec 11, 2020
WHRN12Dec 11, 2020
WNK130Dec 11, 2020
WRAP536Jun 30, 2017
WSCD21Dec 11, 2020
WT15Dec 11, 2020
XBP11Aug 5, 2019
XIAP2Aug 5, 2019
YARS15Dec 11, 2020
YARS21Oct 10, 2018
ZBTB246Dec 11, 2020
ZIC23Aug 5, 2019
ZIC51Dec 11, 2020
ZNF2762Jun 30, 2017
ZNF4671Dec 11, 2020
ZNF518A2Jun 30, 2017

Condition

NameSubmissionsLast Updated
3-methylcrotonyl CoA carboxylase 2 deficiency1Aug 5, 2019
3-methylglutaconic aciduria type 91Aug 5, 2019
3MC syndrome 11Aug 5, 2019
Acetyl-CoA: carboxylase deficiency1Aug 5, 2019
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1Aug 5, 2019
Acyl-CoA dehydrogenase family, member 9, deficiency of2Aug 5, 2019
Adenylate kinase deficiency, hemolytic anemia due to6Dec 11, 2020
Agammaglobulinemia 2, autosomal recessive12Dec 11, 2020
Agammaglobulinemia 4, autosomal recessive4Dec 11, 2020
Agammaglobulinemia 5, autosomal dominant7Dec 11, 2020
Agammaglobulinemia 8, autosomal dominant11Dec 11, 2020
Agenesis of the corpus callosum with peripheral neuropathy5Dec 11, 2020
Alport syndrome 1, X-linked recessive17Dec 11, 2020
Amyotrophic lateral sclerosis, susceptibility to, 243Aug 5, 2019
Aortic aneurysm, familial thoracic 102Aug 5, 2019
Aortic aneurysm, familial thoracic 443Dec 11, 2020
Aortic aneurysm, familial thoracic 712Aug 5, 2019
Aortic aneurysm, familial thoracic 812Dec 11, 2020
Arrhythmogenic right ventricular dysplasia 917Dec 11, 2020
Arterial tortuosity syndrome12Dec 11, 2020
Asphyxiating thoracic dystrophy 28Dec 11, 2020
Ataxia-oculomotor apraxia type 13Dec 11, 2020
Ataxia-telangiectasia syndrome10Aug 5, 2019
Ataxia-telangiectasia-like disorder 110Dec 11, 2020
Atrial fibrillation, familial, 78Dec 11, 2020
Autism, susceptibility to, 181Aug 5, 2019
Autoimmune lymphoproliferative syndrome, type III5Dec 11, 2020
Autoinflammatory syndrome, familial, Behcet-like12Dec 11, 2020
Autosomal dominant nonsyndromic deafness 2A1Aug 5, 2019
Autosomal recessive agammaglobulinemia 14Aug 5, 2019
Autosomal recessive axonal neuropathy with neuromyotonia2Aug 5, 2019
Autosomal recessive cutis laxa type 1B10Dec 11, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D4Dec 11, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2E1Aug 5, 2019
Basel-Vanagaite-Smirin-Yosef syndrome14Dec 11, 2020
Biotinidase deficiency7Dec 11, 2020
Bone fragility with contractures, arterial rupture, and deafness11Dec 11, 2020
Breast-ovarian cancer, familial 45Dec 11, 2020
Brugada syndrome 21Aug 5, 2019
Brugada syndrome 48Dec 11, 2020
Brugada syndrome 63Aug 5, 2019
Capillary malformation-arteriovenous malformation 12Jul 20, 2020
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22Aug 5, 2019
Cardiofaciocutaneous syndrome 47Dec 11, 2020
Carnitine palmitoyltransferase 1A deficiency2Dec 11, 2020
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41Dec 11, 2020
Cerebral cavernous malformations 29Dec 11, 2020
Charcot-Marie-Tooth Neuropathy X Type 14Dec 11, 2020
Charcot-Marie-Tooth disease type 2P7Dec 11, 2020
Charcot-Marie-Tooth disease, axonal, type 2O1Jul 20, 2020
Charcot-Marie-Tooth disease, axonal, type 2R3Dec 11, 2020
Charcot-Marie-Tooth disease, axonal, type 2z5Dec 11, 2020
Charcot-Marie-Tooth disease, dominant intermediate C2Aug 5, 2019
Charcot-Marie-Tooth disease, type 1C2Dec 11, 2020
Charcot-Marie-Tooth disease, type 4B15Dec 11, 2020
Charcot-Marie-Tooth disease, type 4B212Dec 11, 2020
Charcot-Marie-Tooth disease, type 4B341Dec 11, 2020
Charcot-Marie-Tooth disease, type 4D8Dec 11, 2020
Charcot-Marie-Tooth disease, type 4H7Dec 11, 2020
Choroideremia2Dec 11, 2020
Chudley-McCullough syndrome3Aug 5, 2019
Citrullinemia type I14Dec 11, 2020
Cobalamin C disease1Aug 5, 2019
Cocoon syndrome1Aug 5, 2019
Coenzyme Q10 deficiency, primary, 42Aug 5, 2019
Coenzyme Q10 deficiency, primary, 51Aug 5, 2019
Combined malonic and methylmalonic aciduria4Aug 5, 2019
Combined oxidative phosphorylation deficiency 14Dec 11, 2020
Combined oxidative phosphorylation deficiency 42Aug 5, 2019
Common variable immunodeficiency 15Dec 11, 2020
Common variable immunodeficiency 106Dec 11, 2020
Common variable immunodeficiency 37Dec 11, 2020
Common variable immunodeficiency 45Dec 11, 2020
Common variable immunodeficiency 52Aug 5, 2019
Common variable immunodeficiency 61Aug 5, 2019
Common variable immunodeficiency 8, with autoimmunity12Dec 11, 2020
Congenital disorder of glycosylation type 2B4Dec 11, 2020
Congenital dyserythropoietic anemia, type I26Dec 11, 2020
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type3Dec 11, 2020
Congenital sensory neuropathy with selective loss of small myelinated fibers2Dec 11, 2020
Creatine transporter deficiency1Aug 5, 2019
Cystinuria4Aug 5, 2019
Danon disease1Dec 11, 2020
Deafness, X-linked 24Dec 11, 2020
Deafness, autosomal dominant 151Aug 5, 2019
Deafness, autosomal dominant 4b3Aug 5, 2019
Deafness, autosomal dominant 52Dec 11, 2020
Deafness, autosomal recessive 151Aug 5, 2019
Deafness, autosomal recessive 161Aug 5, 2019
Deafness, autosomal recessive 222Aug 5, 2019
Deafness, autosomal recessive 288Dec 11, 2020
Deafness, autosomal recessive 292Dec 11, 2020
Deafness, autosomal recessive 326Dec 11, 2020
Deafness, autosomal recessive 306Dec 11, 2020
Deafness, autosomal recessive 352Aug 5, 2019
Deafness, autosomal recessive 36, with or without vestibular involvement2Aug 5, 2019
Deafness, autosomal recessive 62Aug 5, 2019
Deafness, autosomal recessive 613Dec 11, 2020
Deafness, autosomal recessive 633Dec 11, 2020
Deafness, autosomal recessive 7710Dec 11, 2020
Deafness, autosomal recessive 794Dec 11, 2020
Deafness, autosomal recessive 85Dec 11, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase17Dec 11, 2020
Deficiency of butyryl-CoA dehydrogenase3Dec 11, 2020
Deficiency of guanidinoacetate methyltransferase1Aug 5, 2019
Desanto-shinawi syndrome1Aug 5, 2019
Dilated cardiomyopathy 1DD16Dec 11, 2020
Dilated cardiomyopathy 1JJ28Dec 11, 2020
Distal hereditary motor neuronopathy type 2C2Aug 5, 2019
Early infantile epileptic encephalopathy 91Aug 5, 2019
Ectodermal dysplasia and immunodeficiency 22Dec 11, 2020
Ehlers-Danlos syndrome classic type 237Dec 11, 2020
Ehlers-Danlos syndrome, classic type60Dec 11, 2020
Ehlers-Danlos syndrome, hydroxylysine-deficient34Dec 11, 2020
Elliptocytosis 110Dec 11, 2020
Episodic pain syndrome, familial, 22Aug 5, 2019
Ethylmalonic encephalopathy1Aug 5, 2019
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1Aug 5, 2019
Familial Mediterranean fever1Oct 30, 2019
Familial adenomatous polyposis 31Aug 5, 2019
Familial cancer of breast13Dec 11, 2020
Familial cold autoinflammatory syndrome 242Dec 11, 2020
Familial dysautonomia18Dec 11, 2020
Familial hypertrophic cardiomyopathy 15Aug 5, 2019
Familial hypertrophic cardiomyopathy 102Dec 11, 2020
Familial hypertrophic cardiomyopathy 162Dec 11, 2020
Familial hypertrophic cardiomyopathy 175Dec 11, 2020
Familial hypertrophic cardiomyopathy 81Aug 5, 2019
Familial platelet disorder with associated myeloid malignancy1Aug 5, 2019
Fanconi anemia, complementation group I1Aug 5, 2019
Fanconi anemia, complementation group J8Aug 5, 2019
Giant axonal neuropathy 12Dec 11, 2020
Glomuvenous malformations5Dec 11, 2020
Glycogen storage disease, type II27Dec 11, 2020
Glycogen storage disease, type VII16Dec 11, 2020
HNSHA due to aldolase A deficiency5Dec 11, 2020
Hemolytic anemia due to glutathione reductase deficiency10Dec 11, 2020
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency9Apr 14, 2021
Hennekam lymphangiectasia-lymphedema syndrome 14Dec 11, 2020
Hereditary factor VIII deficiency disease112Dec 11, 2020
Hereditary hemorrhagic telangiectasia type 164Dec 11, 2020
Hereditary insensitivity to pain with anhidrosis10Dec 11, 2020
Hereditary pancreatitis76Dec 11, 2020
Hereditary sensory and autonomic neuropathy type IC5Dec 11, 2020
Hereditary sensory and autonomic neuropathy type IIB6Dec 11, 2020
Hereditary spastic paraplegia 75Dec 11, 2020
Heterotopia, periventricular, autosomal recessive1Aug 5, 2019
Holoprosencephaly 116Dec 11, 2020
Holoprosencephaly 42Dec 11, 2020
Holoprosencephaly 52Aug 5, 2019
Hydrocephalus, congenital, 2, with or without brain or eye anomalies1Jun 28, 2017
Hyper-IgM syndrome type 11Dec 11, 2020
Hyper-IgM syndrome type 35Dec 11, 2020
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2Aug 5, 2019
Hypogonadotropic hypogonadism 6 with or without anosmia1Aug 5, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Aug 5, 2019
Imerslund-Gräsbeck syndrome4Aug 5, 2019
Immunodeficiency 122Dec 11, 2020
Immunodeficiency 1413Dec 11, 2020
Immunodeficiency 26 with or without neurologic abnormalities3Aug 5, 2019
Immunodeficiency, common variable, 124Dec 11, 2020
Immunodeficiency, common variable, 131Aug 5, 2019
Immunodeficiency, common variable, 145Dec 11, 2020
Immunodeficiency-centromeric instability-facial anomalies syndrome 17Dec 11, 2020
Immunodeficiency-centromeric instability-facial anomalies syndrome 26Dec 11, 2020
Immunodeficiency-centromeric instability-facial anomalies syndrome 42Dec 11, 2020
Intellectual disability, autosomal dominant 521Feb 13, 2018
Intellectual disability, autosomal dominant 561Aug 5, 2019
Isolated sulfite oxidase deficiency1Aug 5, 2019
Kabuki syndrome 132Dec 11, 2020
Kabuki syndrome 22Aug 5, 2019
Lathosterolosis1Aug 5, 2019
Leber congenital amaurosis 124Dec 11, 2020
Leber congenital amaurosis 131Aug 5, 2019
Leber congenital amaurosis 54Aug 5, 2019
Leber congenital amaurosis 92Aug 5, 2019
Left ventricular noncompaction 110Dec 11, 2020
Legius syndrome5Dec 11, 2020
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Dec 11, 2020
Li-Fraumeni syndrome 11Feb 6, 2020
Loeys-Dietz syndrome 38Dec 11, 2020
Loeys-Dietz syndrome 48Dec 11, 2020
Long QT syndrome 1116Dec 11, 2020
Long QT syndrome 129Dec 11, 2020
Lymphedema, hereditary, ID2Dec 11, 2020
Lymphoproliferative syndrome 2, X-linked2Aug 5, 2019
Majeed syndrome42Dec 11, 2020
Major affective disorder 71Aug 5, 2019
Maple syrup urine disease6Dec 11, 2020
Maple syrup urine disease, type 34Dec 11, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency88Dec 11, 2020
Megaloblastic anemia due to dihydrofolate reductase deficiency6Dec 11, 2020
Mental retardation 3, X-linked1Dec 11, 2020
Mental retardation, X-linked 11Aug 5, 2019
Mental retardation, autosomal dominant 211Aug 5, 2019
Methylmalonyl-CoA epimerase deficiency1Aug 5, 2019
Microcephalic osteodysplastic primordial dwarfism type II65Dec 11, 2020
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1Aug 5, 2019
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Aug 5, 2019
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1Dec 11, 2020
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)2Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 101Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 111Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 151Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 162Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 53Dec 11, 2020
Mitochondrial complex 1 deficiency, nuclear type 63Dec 11, 2020
Mitochondrial complex 1 deficiency, nuclear type 72Dec 11, 2020
Mitochondrial complex 1 deficiency, nuclear type 81Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 91Aug 5, 2019
Mitochondrial complex III deficiency, nuclear type 31Aug 5, 2019
Moyamoya disease 21Aug 5, 2019
Mucopolysaccharidosis, MPS-IV-A1Aug 5, 2019
Multiple acyl-CoA dehydrogenase deficiency1Dec 11, 2020
Multiple endocrine neoplasia, type 113Aug 5, 2019
Multiple endocrine neoplasia, type 42Dec 11, 2020
Myasthenic syndrome, congenital, 221Aug 5, 2019
Myoclonic epilepsy, familial infantile1May 27, 2015
Myopathy, lactic acidosis, and sideroblastic anemia 11Aug 5, 2019
Neuroblastoma 311Dec 11, 2020
Neuropathy, hereditary sensory and autonomic, type 1A8Dec 11, 2020
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive2Dec 11, 2020
Neutrophil immunodeficiency syndrome1Aug 5, 2019
Noonan syndrome59Jan 27, 2015
Noonan syndrome 81Aug 5, 2019
Noonan syndrome 99Dec 11, 2020
Noonan syndrome-like disorder with loose anagen hair 13Dec 11, 2020
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia3Aug 5, 2019
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 12Aug 5, 2019
Opitz GBBB syndrome, type I1Aug 5, 2019
Ornithine carbamoyltransferase deficiency5Aug 5, 2019
Osteogenesis imperfecta type 79Dec 11, 2020
Osteogenesis imperfecta type 829Dec 11, 2020
Osteogenesis imperfecta type 93Dec 11, 2020
Parkinson disease 6, autosomal recessive early-onset3Dec 11, 2020
Phosphoglycerate kinase 1 deficiency2Aug 5, 2019
Polycystic kidney disease 238Dec 11, 2020
Polycystic kidney disease, adult type323Dec 11, 2020
Pontocerebellar hypoplasia type 62Aug 5, 2019
Preeclampsia/eclampsia 51Aug 5, 2019
Primary autosomal recessive microcephaly 31Aug 5, 2019
Primary pulmonary hypertension 29Dec 11, 2020
Primary pulmonary hypertension 44Dec 11, 2020
Progressive familial heart block type IB7Aug 5, 2019
Propionic acidemia3Dec 11, 2020
Pulmonary venoocclusive disease 2, autosomal recessive37Dec 11, 2020
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome50Dec 11, 2020
Pyruvate carboxylase deficiency3Dec 11, 2020
Pyruvate dehydrogenase E2 deficiency2Aug 5, 2019
Pyruvate dehydrogenase E3-binding protein deficiency2Dec 11, 2020
Renal carnitine transport defect21Dec 11, 2020
Retinitis pigmentosa 114Dec 11, 2020
Retinitis pigmentosa 112Aug 5, 2019
Retinitis pigmentosa 1315Dec 11, 2020
Retinitis pigmentosa 171Aug 5, 2019
Retinitis pigmentosa 22Aug 5, 2019
Retinitis pigmentosa 2523Dec 11, 2020
Retinitis pigmentosa 262Aug 5, 2019
Retinitis pigmentosa 271Aug 5, 2019
Retinitis pigmentosa 282Aug 5, 2019
Retinitis pigmentosa 303Aug 5, 2019
Retinitis pigmentosa 313Dec 11, 2020
Retinitis pigmentosa 339Dec 11, 2020
Retinitis pigmentosa 388Dec 11, 2020
Retinitis pigmentosa 439Dec 11, 2020
Retinitis pigmentosa 441Aug 5, 2019
Retinitis pigmentosa 4515Dec 11, 2020
Retinitis pigmentosa 481Aug 5, 2019
Retinitis pigmentosa 493Aug 5, 2019
Retinitis pigmentosa 545Dec 11, 2020
Retinitis pigmentosa 71Aug 5, 2019
Rhizomelic chondrodysplasia punctata type 213Dec 11, 2020
Rhizomelic chondrodysplasia punctata type 39Dec 11, 2020
Riddle syndrome4Dec 11, 2020
Rotor syndrome38Dec 11, 2020
Schaaf-Yang syndrome1Aug 5, 2019
Schneckenbecken dysplasia1Aug 5, 2019
Severe autosomal recessive muscular dystrophy of childhood - North African type4Dec 11, 2020
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1Jan 15, 2020
Short-rib thoracic dysplasia 3 with or without polydactyly57Dec 11, 2020
Shprintzen-Goldberg syndrome23Dec 11, 2020
Slowed nerve conduction velocity, autosomal dominant10Dec 11, 2020
Smith-Lemli-Opitz syndrome22Dec 11, 2020
Spherocytosis type 171Dec 11, 2020
Spherocytosis type 41Jun 16, 2020
Spherocytosis type 515Dec 11, 2020
Spinal muscular atrophy, distal, autosomal recessive, 51Dec 11, 2020
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12Dec 11, 2020
Spondylocostal dysostosis 1, autosomal recessive24Dec 11, 2020
Stüve-Wiedemann syndrome25Dec 11, 2020
Succinyl-CoA acetoacetate transferase deficiency3Dec 11, 2020
Syndromic X-linked intellectual disability Turner type1Aug 5, 2019
Syndromic X-linked mental retardation, Cabezas type1Aug 5, 2019
Telangiectasia, hereditary hemorrhagic, type 267Dec 11, 2020
Telangiectasia, hereditary hemorrhagic, type 56Dec 11, 2020
Thrombocytopenia 41Aug 5, 2019
Transcolabamin II deficiency4Dec 11, 2020
Trichohepatoenteric syndrome 14Dec 11, 2020
Triosephosphate isomerase deficiency8Dec 11, 2020
Tumor susceptibility linked to germline BAP1 mutations7Dec 11, 2020
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to7Dec 11, 2020
Usher syndrome, type 1G2Aug 5, 2019
Vascular malformation, primary intraosseous1Dec 11, 2020
Ventricular tachycardia, catecholaminergic polymorphic, 27Dec 11, 2020
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness11Dec 11, 2020
Very long chain acyl-CoA dehydrogenase deficiency74Dec 11, 2020
Visceral heterotaxy 5, autosomal1Aug 5, 2019
Vitamin B12-responsive methylmalonic acidemia type cblA2Aug 5, 2019
Vitamin B12-responsive methylmalonic acidemia type cblB2Aug 5, 2019
Wilson disease99Dec 11, 2020
X-linked chondrodysplasia punctata 13Aug 5, 2019
X-linked sideroblastic anemia with ataxia1Dec 11, 2020
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Aug 5, 2019
none provided5537Jul 14, 2021
not provided2157Oct 10, 2018
not specified3508Aug 5, 2019

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 21 test
ANKRD1-related dilated cardiomyopathy1 test
Abacavir hypersensitivity1 test
Achondrogenesis type II2 tests
Achondrogenesis, type IA2 tests
Achondrogenesis, type IB2 tests
Achondroplasia4 tests
Acromicric dysplasia2 tests
Adenosine deaminase, elevated, hemolytic anemia due to2 tests
Adenylate kinase deficiency, hemolytic anemia due to2 tests
Adrenoleukodystrophy1 test
Adult hypophosphatasia1 test
Agammaglobulinemia 2, autosomal recessive1 test
Agammaglobulinemia 3, autosomal recessive1 test
Agammaglobulinemia 4, autosomal recessive1 test
Agammaglobulinemia 5, autosomal dominant1 test
Agammaglobulinemia 6, autosomal recessive1 test
Agammaglobulinemia 7, autosomal recessive1 test
Agenesis of the corpus callosum with peripheral neuropathy2 tests
Allopurinol response1 test
Alpha trait thalassemia2 tests
Alpha-1-antitrypsin deficiency1 test
Alpha-thalassemia and related diseases2 tests
Alport syndrome 1, X-linked recessive1 test
Alzheimer disease2 tests
Aminoglycoside-induced deafness1 test
Amyloidogenic transthyretin amyloidosis3 tests
Andersen Tawil syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
Angelman syndrome3 tests
Ankylosing spondylitis1 test
Antley-Bixler syndrome2 tests
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular cardiomyopathy, type 101 test
Arrhythmogenic right ventricular cardiomyopathy, type 111 test
Arrhythmogenic right ventricular cardiomyopathy, type 121 test
Arrhythmogenic right ventricular cardiomyopathy, type 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arrhythmogenic right ventricular dysplasia, familial 11 test
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair1 test
Arrhythmogenic right ventricular dysplasia, familial, 21 test
Arterial tortuosity syndrome1 test
Ashkenazi Jewish disorders1 test
Asphyxiating thoracic dystrophy 22 tests
Asphyxiating thoracic dystrophy 42 tests
Ataxia-telangiectasia syndrome2 tests
Ataxia-telangiectasia-like disorder 11 test
Atelosteogenesis2 tests
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 91 test
Atrioventricular septal defect, partial, with heterotaxy syndrome1 test
Attenuated familial adenomatous polyposis1 test
Autism spectrum disorder1 test
Autism, susceptibility to, X-linked 31 test
Autoimmune lymphoproliferative syndrome, type III1 test
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1 test
Autosomal dominant nonsyndromic deafness 61 test
Autosomal dominant polycystic kidney disease2 tests
Autosomal recessive agammaglobulinemia 11 test
Autosomal recessive axonal neuropathy with neuromyotonia2 tests
Autosomal recessive cutis laxa type 1B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Bannayan-Riley-Ruvalcaba syndrome2 tests
Becker muscular dystrophy5 tests
Bent bone dysplasia syndrome2 tests
Beta thalassemia intermedia2 tests
Beta thalassemia major2 tests
Beta thalassemia minor2 tests
Biotinidase deficiency1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type2 tests
Bloom syndrome2 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone mineral density quantitative trait locus 181 test
Breast cancer, early-onset1 test
Breast cancer, familial male1 test
Breast cancer, susceptibility to1 test
Breast-ovarian cancer, familial 11 test
Breast-ovarian cancer, familial 32 tests
Breast-ovarian cancer, familial 42 tests
Bronchiectasis with or without elevated sweat chloride 15 tests
Bruck syndrome 21 test
Brugada syndrome1 test
Brugada syndrome 11 test
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 51 test
Brugada syndrome 61 test
Brugada syndrome 71 test
CYP2C19-related poor drug metabolism1 test
Camptomelic dysplasia2 tests
Capillary malformation-arteriovenous malformation3 tests
Carcinoma of colon1 test
Cardiac arrhythmia, ankyrin B-related1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiofaciocutaneous syndrome 12 tests
Cardiomyopathy2 tests
Carney-Stratakis syndrome1 test
Catecholaminergic polymorphic ventricular tachycardia1 test
Celiac disease1 test
Cerebral cavernous malformation3 tests
Cerebral cavernous malformations 12 tests
Cerebral cavernous malformations 22 tests
Cerebral cavernous malformations 32 tests
Cerebral creatine deficiency syndrome1 test
Charcot-Marie-Tooth Neuropathy X2 tests
Charcot-Marie-Tooth disease3 tests
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 42 tests
Charcot-Marie-Tooth disease, dominant intermediate B2 tests
Charcot-Marie-Tooth disease, type 22 tests
Charcot-Marie-Tooth disease, type I3 tests
Charcot-Marie-Tooth disease, type IA3 tests
Childhood hypophosphatasia1 test
Chondrodysplasia punctata2 tests
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic obstructive pulmonary disease1 test
Citrullinemia type I1 test
Classic homocystinuria2 tests
Cleidocranial dysostosis2 tests
Cobalamin C disease1 test
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 21 test
Combined malonic and methylmalonic aciduria1 test
Common variable immunodeficiency1 test
Common variable immunodeficiency 11 test
Common variable immunodeficiency 101 test
Common variable immunodeficiency 21 test
Common variable immunodeficiency 31 test
Common variable immunodeficiency 41 test
Common variable immunodeficiency 51 test
Common variable immunodeficiency 61 test
Common variable immunodeficiency 71 test
Common variable immunodeficiency 8, with autoimmunity1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation5 tests
Congenital contractural arachnodactyly1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital hemolytic anemia1 test
Congenital long QT syndrome1 test
Congenital muscular dystrophy, LMNA-related1 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
Costello syndrome2 tests
Cowden syndrome1 test
Cowden syndrome 13 tests
Cranioectodermal dysplasia2 tests
Crigler-Najjar syndrome, type II2 tests
Curry-Hall syndrome2 tests
Cyclical neutropenia1 test
Cystic fibrosis8 tests
Czech dysplasia, metatarsal type2 tests
DRUG METABOLISM, ALTERED, CYP2C8-RELATED2 tests
Danon disease2 tests
Deafness, autosomal dominant 3a2 tests
Deafness, autosomal recessive 1A3 tests
Deafness, autosomal recessive 1b2 tests
Deafness, nonsyndromic sensorineural, mitochondrial1 test
Debrisoquine, poor metabolism of2 tests
Debrisoquine, ultrarapid metabolism of2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3 tests
Deficiency of cytochrome-b5 reductase2 tests
Deficiency of guanidinoacetate methyltransferase1 test
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
Desmoid disease, hereditary1 test
Diarrhea 4, malabsorptive, congenital1 test
Diastrophic dysplasia2 tests
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y2 tests
Dilated cardiomyopathy 1Z2 tests
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 3B1 test
Dilated cardiomyopathy with woolly hair and keratoderma1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Disorder due cytochrome p450 CYP2C19 variant2 tests
Disorder due cytochrome p450 CYP2C9 variant2 tests
Disorder due cytochrome p450 CYP2D6 variant2 tests
Disorders of Intracellular Cobalamin Metabolism1 test
Distal arthrogryposis1 test
Distal hereditary motor neuronopathy2 tests
Distal myopathy, Tateyama type1 test
Distal spinal muscular atrophy, X-linked 32 tests
Drug metabolism or response2 tests
Duchenne muscular dystrophy5 tests
Dystrophinopathies4 tests
Ectodermal dysplasia and immunodeficiency 11 test
Ectodermal dysplasia and immunodeficiency 21 test
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, hydroxylysine-deficient1 test
Ehlers-Danlos syndrome, type 41 test
Ellis-van Creveld syndrome2 tests
Emery-Dreifuss muscular dystrophy1 test
Emery-Dreifuss muscular dystrophy 1, X-linked1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Endometrial carcinoma1 test
Epiphyseal dysplasia, multiple, 31 test
Erythrocyte Alloimmunization1 test
Fabry disease2 tests
Familial Mediterranean fever2 tests
Familial adenomatous polyposis 13 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial atrial fibrillation1 test
Familial cancer of breast3 tests
Familial cold autoinflammatory syndrome1 test
Familial cold autoinflammatory syndrome 31 test
Familial colorectal cancer2 tests
Familial dysautonomia4 tests
Familial hypercholesterolemia2 tests
Familial hypertrophic cardiomyopathy 12 tests
Familial hypertrophic cardiomyopathy 102 tests
Familial hypertrophic cardiomyopathy 112 tests
Familial hypertrophic cardiomyopathy 122 tests
Familial hypertrophic cardiomyopathy 132 tests
Familial hypertrophic cardiomyopathy 141 test
Familial hypertrophic cardiomyopathy 151 test
Familial hypertrophic cardiomyopathy 161 test
Familial hypertrophic cardiomyopathy 172 tests
Familial hypertrophic cardiomyopathy 182 tests
Familial hypertrophic cardiomyopathy 22 tests
Familial hypertrophic cardiomyopathy 201 test
Familial hypertrophic cardiomyopathy 32 tests
Familial hypertrophic cardiomyopathy 42 tests
Familial hypertrophic cardiomyopathy 62 tests
Familial hypertrophic cardiomyopathy 72 tests
Familial hypertrophic cardiomyopathy 82 tests
Familial hypertrophic cardiomyopathy 91 test
Familial medullary thyroid carcinoma1 test
Familial partial lipodystrophy 21 test
Familial restrictive cardiomyopathy1 test
Familial restrictive cardiomyopathy 12 tests
Familial restrictive cardiomyopathy 32 tests
Familial type 3 hyperlipoproteinemia1 test
Fanconi anemia, complementation group C2 tests
Fanconi anemia, complementation group J1 test
Fanconi anemia, complementation group N1 test
Fanconi anemia, complementation group O1 test
Fatty liver disease, nonalcoholic 11 test
Fatty liver disease, nonalcoholic 21 test
Febrile seizures, familial, 11 test
Fentanyl response1 test
Fetal hemoglobin quantitative trait locus 13 tests
Fibrochondrogenesis 21 test
Fluorouracil response1 test
Fragile X syndrome3 tests
Fragile X tremor/ataxia syndrome2 tests
Frontometaphyseal dysplasia 12 tests
Fukuyama congenital muscular dystrophy1 test
Galactosemia2 tests
Gardner syndrome1 test
Gaucher disease2 tests
Gaucher disease type 3C2 tests
Gaucher disease type I2 tests
Gaucher disease type II2 tests
Gaucher disease type III2 tests
Gaucher disease, atypical, due to saposin C deficiency1 test
Gaucher disease, perinatal lethal2 tests
Geleophysic dysplasia 22 tests
Generalized juvenile polyposis/juvenile polyposis coli1 test
Genetic prion disease1 test
Geroderma osteodysplastica1 test
Giant axonal neuropathy 12 tests
Gilbert syndrome1 test
Glomuvenous malformations1 test
Glucose 6 phosphate dehydrogenase deficiency2 tests
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to2 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
Glycogen storage disease, type II2 tests
Glycogen storage disease, type VII2 tests
Gnathodiaphyseal dysplasia1 test
Gorlin syndrome1 test
Greenberg dysplasia2 tests
HNSHA due to aldolase A deficiency2 tests
Hb SS disease6 tests
Heart, malformation of1 test
Heart-hand syndrome, Slovenian type1 test
Heinz body anemia2 tests
Hemochromatosis type 11 test
Hemoglobin H disease4 tests
Hemoglobin H disease, nondeletional1 test
Hemoglobinopathy3 tests
Hemolytic anemia2 tests
Hemolytic anemia due to hexokinase deficiency2 tests
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency2 tests
Hemolytic disease of fetus OR newborn due to isoimmunization5 tests
Hemophilia1 test
Hemophilia B Brandenburg1 test
Hemophilia B Leyden1 test
Hemophilia b(m)1 test
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hepatic methionine adenosyltransferase deficiency1 test
Hereditary Paraganglioma-Pheochromocytoma Syndromes5 tests
Hereditary breast and ovarian cancer syndrome3 tests
Hereditary cancer-predisposing syndrome2 tests
Hereditary diffuse gastric cancer3 tests
Hereditary disease3 tests
Hereditary elliptocytosis2 tests
Hereditary factor IX deficiency disease2 tests
Hereditary factor VIII deficiency disease4 tests
Hereditary hearing loss and deafness1 test
Hereditary hemorrhagic telangiectasia2 tests
Hereditary hemorrhagic telangiectasia type 11 test
Hereditary insensitivity to pain with anhidrosis2 tests
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies3 tests
Hereditary lymphedema type I1 test
Hereditary motor and sensory neuropathy2 tests
Hereditary nonpolyposis colon cancer1 test
Hereditary nonpolyposis colorectal cancer type 41 test
Hereditary nonpolyposis colorectal cancer type 52 tests
Hereditary nonpolyposis colorectal cancer type 81 test
Hereditary pancreatitis9 tests
Hereditary pyropoikilocytosis2 tests
Hereditary sensory and autonomic neuropathy type 12 tests
Hereditary sensory and autonomic neuropathy type II2 tests
Hereditary sensory neuropathy type 1D2 tests
Hereditary sensory neuropathy type IE2 tests
Hereditary spastic paraplegia2 tests
Hereditary spherocytosis2 tests
Heterotaxia1 test
Hexosaminidase A deficiency, adult type1 test
Holoprosencephaly 22 tests
Holoprosencephaly 32 tests
Holoprosencephaly 42 tests
Holoprosencephaly 52 tests
Holoprosencephaly 92 tests
Holoprosencephaly sequence2 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
Huntington disease1 test
Hutchinson-Gilford syndrome1 test
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 21 test
Hyper-IgM syndrome type 31 test
Hyper-IgM syndrome type 51 test
Hypercoagulability3 tests
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperlipoproteinemia1 test
Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertrophic cardiomyopathy 251 test
Hypochondrogenesis2 tests
Hypochondroplasia2 tests
Hypophosphatasia3 tests
Hypophosphatemic rickets, X-linked recessive1 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Hystrix-like ichthyosis with deafness3 tests
Imerslund-Gräsbeck syndrome1 test
Immunodeficiency 141 test
Immunoglobulin A deficiency 21 test
Infantile hypophosphatasia1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual disability1 test
Intrinsic factor deficiency1 test
Irinotecan response1 test
Isolated ectopia lentis2 tests
Jarcho-Levin syndrome2 tests
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 21 test
Jeune thoracic dystrophy2 tests
Joubert syndrome 22 tests
Juvenile (Subacute) Hexosaminidase A Deficiency1 test
Juvenile polyposis syndrome2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
Keratitis-ichthyosis-deafness syndrome, autosomal dominant3 tests
Kniest dysplasia2 tests
Knuckle pads, deafness AND leukonychia syndrome2 tests
Langer mesomelic dysplasia syndrome1 test
Larsen syndrome2 tests
Left ventricular noncompaction2 tests
Left ventricular noncompaction 11 test
Left ventricular noncompaction 101 test
Left ventricular noncompaction 41 test
Left ventricular noncompaction 62 tests
Legius syndrome3 tests
Leprechaunism syndrome1 test
Leri-Weill dyschondrosteosis1 test
Lethal Kniest-like syndrome2 tests
Lethal tight skin contracture syndrome1 test
Li-Fraumeni syndrome5 tests
Limb-girdle muscular dystrophy1 test
Limb-girdle muscular dystrophy, type 1B2 tests
Limb-girdle muscular dystrophy, type 2J1 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 31 test
Loeys-Dietz syndrome 41 test
Long QT syndrome2 tests
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 21 test
Long QT syndrome 31 test
Long QT syndrome 41 test
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 91 test
Lymphedema, hereditary, ID1 test
Lymphedema, hereditary, III1 test
Lymphedema, primary, with myelodysplasia1 test
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 2, X-linked1 test
Lynch syndrome3 tests
Lynch syndrome II2 tests
MASS syndrome2 tests
MTHFR deficiency, thermolabile type2 tests
MYH-associated polyposis5 tests
Macrocephaly/autism syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Majeed syndrome1 test
Malignant hyperthermia1 test
Malignant hyperthermia susceptibility1 test
Mandibuloacral dysplasia with type A lipodystrophy1 test
Maple syrup urine disease type 1B2 tests
Maple syrup urine disease, type 32 tests
Marfan syndrome3 tests
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
Maturity-onset diabetes of the young, type 11 test
Maturity-onset diabetes of the young, type 101 test
Maturity-onset diabetes of the young, type 111 test
Maturity-onset diabetes of the young, type 131 test
Maturity-onset diabetes of the young, type 141 test
Maturity-onset diabetes of the young, type 21 test
Maturity-onset diabetes of the young, type 31 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Medulloblastoma1 test
Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Melanoma1 test
Mental retardation 3, X-linked1 test
Mental retardation, X-linked, syndromic 131 test
Mental retardation, X-linked, syndromic, martin-probst type2 tests
Metachondromatosis1 test
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly2 tests
Metatrophic dysplasia2 tests
Methemoglobinemia, type I2 tests
Methylcobalamin deficiency type cblG1 test
Methylmalonic acidemia with homocystinuria cblD1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria due to transcobalamin receptor defect1 test
Methylmalonyl-CoA epimerase deficiency1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Microcephaly-capillary malformation syndrome1 test
Mitchell-Riley syndrome1 test
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
Morphine response1 test
Mucolipidosis type IV2 tests
Muir-Torré syndrome3 tests
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia, type 14 tests
Multiple endocrine neoplasia, type 21 test
Multiple endocrine neoplasia, type 2a1 test
Multiple endocrine neoplasia, type 2b1 test
Multiple endocrine neoplasia, type 41 test
Multiple fibrofolliculomas2 tests
Muscular dystrophy, limb-girdle, type 2R1 test
Myelodysplastic syndrome1 test
Myocardial infarction 11 test
Myofibrillar myopathy 11 test
Myofibrillar myopathy 31 test
Myofibrillar myopathy, ZASP-related1 test
Myopathy, distal, 11 test
Myopathy, early-onset, with fatal cardiomyopathy1 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myotonic dystrophy1 test
Narcolepsy 11 test
Naxos disease1 test
Nemaline myopathy 22 tests
Neonatal diabetes mellitus1 test
Nephronophthisis1 test
Neuroblastoma1 test
Neurofibromatosis, type 12 tests
Neurofibromatosis, type 21 test
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive2 tests
Neutropenia, severe congenital 1, autosomal dominant1 test
Niemann-Pick disease, type A2 tests
Noonan syndrome2 tests
Noonan syndrome 11 test
Noonan syndrome with multiple lentigines2 tests
Noonan syndrome-like disorder with loose anagen hair1 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia3 tests
OSTEOGENESIS IMPERFECTA, TYPE IIC1 test
Ornithine carbamoyltransferase deficiency1 test
Osteogenesis imperfecta3 tests
Osteogenesis imperfecta type 1, mild1 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 71 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III1 test
Osteogenesis imperfecta, CREB3L1 related1 test
Osteogenesis imperfecta, type III/IV1 test
Osteogenesis imperfecta, type VI1 test
Osteogenesis imperfecta, type XI1 test
Osteogenesis imperfecta, type xiii1 test
Osteogenesis imperfecta, type xiv1 test
Osteogenesis imperfecta, type xv1 test
Osteogenesis imperfecta, type xvi1 test
Osteogenesis imperfecta, type xvii1 test
Osteoglophonic dysplasia2 tests
Osteoporosis with pseudoglioma1 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
PTEN hamartoma tumor syndrome4 tests
Palmoplantar keratoderma-deafness syndrome2 tests
Pancreatic agenesis and congenital heart disease1 test
Paragangliomas 12 tests
Paragangliomas 32 tests
Paragangliomas 42 tests
Paragangliomas 51 test
Parastremmatic dwarfism2 tests
Parkes Weber syndrome2 tests
Pendred syndrome1 test
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
Peripheral neuropathy, myopathy, hoarseness, and hearing loss2 tests
Perrault syndrome 11 test
Perry syndrome2 tests
Peutz-Jeghers syndrome4 tests
Pheochromocytoma3 tests
Phosphoglycerate kinase 1 deficiency2 tests
Pilomatrixoma1 test
Pineal hyperplasia AND diabetes mellitus syndrome1 test
Platyspondylic dysplasia, Torrance type2 tests
Prader-Willi syndrome2 tests
Primary ciliary dyskinesia2 tests
Primary dilated cardiomyopathy2 tests
Primary familial hypertrophic cardiomyopathy2 tests
Primary pulmonary hypertension2 tests
Primary pulmonary hypertension 21 test
Primary pulmonary hypertension 31 test
Primary pulmonary hypertension 42 tests
Prion disease1 test
Progressive familial heart block type IB1 test
Progressive familial heart block, type 1A1 test
Propionic acidemia1 test
Proteus syndrome2 tests
Proteus-like syndrome1 test
Pseudo von Willebrand disease1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
Pseudohypoaldosteronism type 2D1 test
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia1 test
Pulmonary venoocclusive disease 2, autosomal recessive1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyruvate kinase deficiency of red cells3 tests
Rasopathy2 tests
Renal carnitine transport defect1 test
Renal cell carcinoma, papillary, 12 tests
Retinitis pigmentosa 82 with or without situs inversus1 test
Retinoblastoma1 test
Rett syndrome1 test
Rhabdoid tumor predisposition syndrome 11 test
Rhizomelic chondrodysplasia punctata2 tests
Rippling muscle disease1 test
Rippling muscle disease 21 test
Rotor syndrome2 tests
Russell-Silver syndrome1 test
SUDDEN INFANT DEATH SYNDROME1 test
Schneckenbecken dysplasia2 tests
Schwartz-Jampel syndrome2 tests
Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
Severe combined immunodeficiency due to ADA deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Short QT syndrome 11 test
Short QT syndrome 21 test
Short QT syndrome 31 test
Short rib-polydactyly syndrome, Majewski type2 tests
Short stature, idiopathic, autosomal1 test
Short-rib thoracic dysplasia 3 with or without polydactyly2 tests
Shprintzen-Goldberg syndrome3 tests
Sick sinus syndrome 1, autosomal recessive1 test
Sickle cell-Hemoglobin O Arab disease3 tests
Sickle cell-beta-thalassemia3 tests
Sickle cell-hemoglobin C disease3 tests
Sickle cell-hemoglobin D disease3 tests
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Skeletal dysplasia2 tests
Slowed nerve conduction velocity, autosomal dominant2 tests
Smith-Lemli-Opitz syndrome1 test
Spermatogenic failure, Y-linked 21 test
Spinal muscular atrophy5 tests
Spinal muscular atrophy, distal, autosomal recessive, 12 tests
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant2 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
Spondylocarpotarsal synostosis syndrome2 tests
Spondyloepiphyseal dysplasia congenita2 tests
Spondyloperipheral dysplasia-short ulna syndrome2 tests
Spongy degeneration of central nervous system2 tests
Statin-induced myopathy1 test
Steinert myotonic dystrophy syndrome1 test
Stickler syndrome1 test
Stickler syndrome type 11 test
Stickler syndrome type 21 test
Stickler syndrome, type 41 test
Stickler syndrome, type 51 test
Stiff skin syndrome2 tests
Stüve-Wiedemann syndrome2 tests
Syndromic X-linked intellectual disability Lubs type1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tay-Sachs disease5 tests
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 52 tests
Terminal osseous dysplasia2 tests
Thalassemia3 tests
Thalassemia intermedia2 tests
Thanatophoric dysplasia type 14 tests
Thanatophoric dysplasia, type 24 tests
Thiopurine response1 test
Thrombophilia due to factor V Leiden2 tests
Thrombophilia due to thrombin defect1 test
Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
Timothy syndrome1 test
Transcolabamin II deficiency1 test
Transcription level of plasminogen activator inhibitor 11 test
Triosephosphate isomerase deficiency2 tests
Tropical calcific pancreatitis1 test
Tuberous sclerosis 14 tests
Tuberous sclerosis 24 tests
Tuberous sclerosis syndrome3 tests
Tumor susceptibility linked to germline BAP1 mutations2 tests
Turcot syndrome5 tests
Type II Collagenopathies2 tests
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to2 tests
Usher Syndrome, Type III3 tests
Usher syndrome type 1D1 test
Usher syndrome type 1F3 tests
Usher syndrome type 21 test
Usher syndrome, type 1B1 test
Usher syndrome, type 1C1 test
Usher syndrome, type 1G1 test
Usher syndrome, type 2C1 test
Usher syndrome, type 2D1 test
VACTERL association with hydrocephalus1 test
Van Maldergem syndrome 21 test
Vascular malformation, primary intraosseous1 test
Ventricular tachycardia, catecholaminergic polymorphic, 21 test
Vertical talus, congenital2 tests
Very long chain acyl-CoA dehydrogenase deficiency1 test
Vitamin B12-responsive methylmalonic acidemia type cblA1 test
Vitamin B12-responsive methylmalonic acidemia type cblB1 test
Vitamin D-dependent rickets type 1A1 test
Von Hippel-Lindau syndrome4 tests
Wagner syndrome1 test
Warfarin response1 test
Weill-Marchesani syndrome 22 tests
Wilson disease1 test
Wolff-Parkinson-White pattern1 test
X-linked agammaglobulinemia1 test
alpha Thalassemia2 tests
beta Thalassemia4 tests
short QT syndrome2 tests
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