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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: 17056

Gene

GeneSubmissionsLast Updated
AARS121Apr 30, 2022
ABCA22Jan 4, 2022
ABCA445Jan 4, 2022
ABCB61Dec 11, 2020
ABCB72Jan 4, 2022
ABCC84Apr 30, 2022
ABCC927Apr 30, 2022
ABCD135Jan 4, 2022
ABCD42Jan 4, 2022
ABLIM31Jan 4, 2022
ACACA1Aug 5, 2019
ACACB2Dec 11, 2020
ACAD94Jan 4, 2022
ACADL3Jan 4, 2022
ACADM94Apr 30, 2022
ACADS5Apr 30, 2022
ACADVL134Apr 30, 2022
ACAT11Oct 10, 2018
ACD1Dec 11, 2020
ACOX32Dec 11, 2020
ACSF36Jan 4, 2022
ACTA11Aug 5, 2019
ACTA27Jan 4, 2022
ACTA2-AS11Jan 4, 2022
ACTC12Jan 4, 2022
ACTG16Jan 4, 2022
ACTN210Jan 4, 2022
ACVRL1119Apr 30, 2022
ADA10Jan 4, 2022
ADA25Apr 30, 2022
ADAMTSL11Dec 11, 2020
ADGRV159Apr 30, 2022
ADK2Apr 30, 2022
AFF41Jan 4, 2022
AFG3L21Dec 11, 2020
AGL7Apr 30, 2022
AGPS12Jan 4, 2022
AHNAK21Dec 11, 2020
AICDA2Jan 4, 2022
AIFM14Jan 4, 2022
AIPL19Jan 4, 2022
AK114Apr 30, 2022
AKAP937Jan 4, 2022
AKT14Apr 30, 2022
ALDOA9Apr 30, 2022
ALG112Apr 30, 2022
ALK18Apr 30, 2022
ALMS14Apr 30, 2022
ALPK37Apr 30, 2022
ALPL26Apr 30, 2022
ALS25Jan 4, 2022
AMACR1Jan 4, 2022
AMN4Aug 5, 2019
AMT1Jan 4, 2022
ANAPC151Jan 4, 2022
ANK1126Apr 30, 2022
ANK263Jan 12, 2022
ANKRD18Jan 4, 2022
ANKRD241Jan 4, 2022
ANKRD2610Apr 30, 2022
ANO53Jan 4, 2022
AOPEP1Jun 30, 2017
APC112Apr 30, 2022
APOB39Apr 30, 2022
APPL11Jan 4, 2022
APTX5Jan 4, 2022
ARCN11Jan 15, 2020
ARF11Mar 9, 2022
ARFGEF21Aug 5, 2019
ARHGAP271Dec 11, 2020
ARHGAP41Dec 11, 2020
ARHGEF1014Jan 4, 2022
ARL6IP61Dec 11, 2020
ARSL14Apr 30, 2022
ASB111Dec 11, 2020
ASB161Dec 11, 2020
ASB16-AS11Dec 11, 2020
ASS118Jan 4, 2022
ASTE11Jan 4, 2022
ATF7IP21Dec 11, 2020
ATL16Jan 4, 2022
ATM109Apr 30, 2022
ATP13A21Dec 11, 2020
ATP7A15Jan 4, 2022
ATP7B141Apr 30, 2022
ATP8A21Dec 11, 2020
ATPAF25Aug 5, 2019
ATR20Apr 30, 2022
ATRX3Dec 11, 2020
ATXN7L3-AS11Jan 4, 2022
AXIN222Apr 30, 2022
B3GALT11Dec 11, 2020
B3GALT1-AS11Dec 11, 2020
B3GALT61Dec 11, 2020
BAG322Apr 30, 2022
BAP18Jan 4, 2022
BARD120Apr 30, 2022
BCAR32Dec 11, 2020
BCKDHA4Jan 4, 2022
BCKDHB1Oct 10, 2018
BCS1L1Dec 11, 2020
BEST17Jan 4, 2022
BGN1Dec 11, 2020
BICD215Apr 30, 2022
BLK2Jan 4, 2022
BLM8Jan 4, 2022
BLNK7Jan 4, 2022
BMPR1A12Apr 30, 2022
BMPR244Apr 30, 2022
BPTF1Jan 4, 2022
BRAF11Apr 30, 2022
BRAT11Jan 4, 2022
BRCA1253Apr 30, 2022
BRCA2453Apr 30, 2022
BRIP132Apr 30, 2022
BSCL27Apr 30, 2022
BTD23Apr 30, 2022
BTK9Dec 11, 2020
C10orf1054Dec 11, 2020
C11orf6534Apr 30, 2022
C1QTNF3-AMACR1Jan 4, 2022
C3orf801Oct 10, 2018
C63Jan 4, 2022
C71Jan 4, 2022
C9orf1311Dec 11, 2020
CA44Aug 5, 2019
CACNA1A3Dec 11, 2020
CACNA1C48Apr 30, 2022
CACNA1C-AS122Apr 30, 2022
CACNA1C-AS21Dec 11, 2020
CACNA1S4Apr 30, 2022
CACNB216Jan 4, 2022
CAMK2D1Aug 5, 2019
CANT17Jan 4, 2022
CARD118Apr 30, 2022
CARD11-AS11Dec 11, 2020
CARD142Dec 11, 2020
CASK1Oct 10, 2018
CASQ29Jan 4, 2022
CAV16Jan 4, 2022
CAV37Jan 4, 2022
CBL16Apr 30, 2022
CBLIF4Dec 11, 2020
CBS42Apr 30, 2022
CCBE14Jan 4, 2022
CCDC1701Dec 11, 2020
CCDC391Apr 30, 2022
CCDC402Apr 30, 2022
CCDC502Oct 10, 2018
CCM214Apr 30, 2022
CCNH29Jan 4, 2022
CCT57Jan 4, 2022
CD1910Apr 30, 2022
CD3201Jun 30, 2017
CD407Jan 4, 2022
CD40LG7Dec 11, 2020
CD79A2Jun 30, 2017
CD812Jan 4, 2022
CDAN160Apr 30, 2022
CDH145Apr 30, 2022
CDH2340Apr 30, 2022
CDH23-AS12Dec 11, 2020
CDHR19Dec 11, 2020
CDK201Dec 11, 2020
CDK41Jan 4, 2022
CDK5RAP21Aug 5, 2019
CDKN1B3Apr 30, 2022
CDKN2A5Apr 30, 2022
CDON8Jan 4, 2022
CEACAM165Dec 11, 2020
CEBPA2Jan 4, 2022
CEP29021Jan 4, 2022
CEP85L4Jan 4, 2022
CERKL2Aug 5, 2019
CFAP2981Dec 11, 2020
CFAP298-TCP10L1Dec 11, 2020
CFAP4183Jan 4, 2022
CFAP418-AS11Jan 4, 2022
CFAP471Dec 11, 2020
CFAP531Dec 11, 2020
CFAP921Oct 10, 2018
CFTR351Apr 30, 2022
CFTR-AS148Apr 30, 2022
CHD31Jan 4, 2022
CHD61Dec 11, 2020
CHD732Dec 11, 2020
CHD81Aug 5, 2019
CHEK218Apr 30, 2022
CHM2Jan 4, 2022
CHRNA41Dec 11, 2020
CHRNA91Dec 11, 2020
CHRNG1Oct 10, 2018
CHST141Jan 4, 2022
CHUK1Aug 5, 2019
CILK112Apr 30, 2022
CLDN142Jan 4, 2022
CLDN14-AS12Jan 4, 2022
CLDN21Dec 11, 2020
CLK11Jan 4, 2022
CLN62Dec 11, 2020
CLRN12Aug 5, 2019
CLRN1-AS11Aug 5, 2019
CLTC1Aug 5, 2019
CNGA13Jan 4, 2022
CNGB119Jan 4, 2022
COCH6Aug 5, 2019
COG21Jan 4, 2022
COL11A218Apr 30, 2022
COL12A11Dec 11, 2020
COL1A184Apr 30, 2022
COL1A259Apr 30, 2022
COL25A11Jan 4, 2022
COL2A180Apr 30, 2022
COL3A162Apr 30, 2022
COL4A11Aug 5, 2019
COL4A34Apr 30, 2022
COL4A41Apr 30, 2022
COL4A528Jan 4, 2022
COL5A1110Apr 30, 2022
COL5A264Apr 30, 2022
COL6A11Dec 11, 2020
COL6A25Jan 4, 2022
COL6A51Dec 11, 2020
COL8A11Dec 11, 2020
COL9A11Dec 11, 2020
COL9A22Jan 4, 2022
COL9A33Jan 4, 2022
COMP19Jan 4, 2022
COQ23Jan 4, 2022
COQ8A6Jan 4, 2022
COQ93Aug 5, 2019
CORIN5Aug 5, 2019
COX103Jan 4, 2022
COX153Aug 5, 2019
COX4I22Aug 5, 2019
CPSF31Jan 4, 2022
CPT1A11Apr 30, 2022
CPT28Apr 30, 2022
CPZ1Jan 4, 2022
CR12Dec 11, 2020
CR218Apr 30, 2022
CRB113Dec 11, 2020
CRTAP16Apr 30, 2022
CRX4Jan 4, 2022
CRYAB3Jan 4, 2022
CRYM1Oct 10, 2018
CSRP38Apr 30, 2022
CTC111Jun 30, 2017
CTCF1Aug 5, 2019
CTF12Aug 5, 2019
CTLA41Aug 5, 2019
CTNS2Dec 11, 2020
CTRC77Jan 4, 2022
CUBN40Apr 30, 2022
CUL4B1Aug 5, 2019
CXCR42Jan 4, 2022
CYB5R322Apr 30, 2022
CYBB2Dec 11, 2020
CYCS1Aug 5, 2019
CYGB1Oct 10, 2018
DARS22Jan 4, 2022
DBNL1Apr 30, 2022
DBT6Jan 4, 2022
DCHS13Dec 11, 2020
DCLRE1C12Apr 30, 2022
DCP21Dec 11, 2020
DCTN120Apr 30, 2022
DDOST2Jan 4, 2022
DDR212Apr 30, 2022
DDX413Apr 30, 2022
DDX521Dec 11, 2020
DEAF11Dec 11, 2020
DES13Apr 30, 2022
DGUOK3Dec 11, 2020
DHCR731Jan 4, 2022
DHFR9Apr 30, 2022
DHRS4L11Dec 11, 2020
DHTKD123Jan 4, 2022
DIAPH11Oct 10, 2018
DICER137Apr 30, 2022
DIPK1A1Jun 30, 2017
DISP118Apr 30, 2022
DKC11Jun 30, 2017
DLAT4Aug 5, 2019
DLD5Dec 11, 2020
DLG42Jan 4, 2022
DLL331Apr 30, 2022
DMD168Apr 30, 2022
DNAAF12Apr 30, 2022
DNAAF112Apr 30, 2022
DNAH112Apr 30, 2022
DNAH1113Apr 30, 2022
DNAH512Apr 30, 2022
DNAI21Apr 30, 2022
DNAJB23Jan 4, 2022
DNASE11Dec 11, 2020
DNM1L3Jan 4, 2022
DNM220Apr 30, 2022
DNMT137Apr 30, 2022
DNMT3B8Apr 30, 2022
DPYSL51Jan 4, 2022
DRD21Dec 11, 2020
DRP21Dec 11, 2020
DSC212Apr 30, 2022
DSCAS1Aug 5, 2019
DSG226Jan 4, 2022
DSG2-AS18Jan 4, 2022
DSP57Apr 30, 2022
DSP-AS12Jan 4, 2022
DSPP9Jan 4, 2022
DTNA15Jan 4, 2022
DUSP294Jan 4, 2022
DVL21Dec 11, 2020
DYNC1H140Apr 30, 2022
DYNC2H1129Apr 30, 2022
DYSF1Dec 11, 2020
EAPP1Dec 11, 2020
EBP7Jan 4, 2022
EDA3Dec 11, 2020
EDAR2Jan 4, 2022
EDARADD4Jan 4, 2022
EFCC11Jan 4, 2022
EFEMP219Apr 30, 2022
EFHC12Dec 11, 2020
EGR28Jan 4, 2022
EHBP1L12Jan 4, 2022
EIF2AK447Apr 30, 2022
ELAC21Dec 11, 2020
ELANE18Apr 30, 2022
ELMO22Apr 30, 2022
ELP129Apr 30, 2022
EMD4Jan 4, 2022
EML61Dec 11, 2020
ENG126Apr 30, 2022
ENO32Apr 30, 2022
EPB4121Apr 30, 2022
EPB4231Apr 30, 2022
EPHB439Apr 30, 2022
EPM2A1Jan 4, 2022
EPM2A-DT1Jan 4, 2022
EPPK11Dec 11, 2020
ERCC63Dec 11, 2020
ERMARD1Dec 11, 2020
ESPN9Jan 4, 2022
ESRRB5Apr 30, 2022
ETFA1Apr 30, 2022
ETFB2Oct 10, 2018
ETFDH3Apr 30, 2022
ETHE11Aug 5, 2019
ETV61Apr 30, 2022
EVC50Apr 30, 2022
EVC267Apr 30, 2022
EXD31Aug 5, 2019
EXT21Dec 11, 2020
EYA49Jan 4, 2022
EYS24Jan 12, 2022
F111Dec 11, 2020
F8229Apr 30, 2022
F981Jan 4, 2022
FAM120C1Jan 4, 2022
FAM161A2Aug 5, 2019
FANCA21Jun 30, 2017
FANCB2Jun 30, 2017
FANCC1Jun 30, 2017
FANCD216Jun 30, 2017
FANCD2OS1Jun 30, 2017
FANCE2Jun 30, 2017
FANCG2Jun 30, 2017
FANCI10Jan 4, 2022
FANCL3Jun 30, 2017
FANCM8Jun 30, 2017
FARS21Dec 11, 2020
FASN1Jan 4, 2022
FASTKD21Oct 10, 2018
FAT421Apr 30, 2022
FBLN511Apr 30, 2022
FBN1225Apr 30, 2022
FBN2129Apr 30, 2022
FBN32Jan 4, 2022
FBXL41Aug 5, 2019
FBXO411Aug 5, 2019
FGD410Jan 4, 2022
FGF82Jan 4, 2022
FGFR120Apr 30, 2022
FGFR219Apr 30, 2022
FGFR352Apr 30, 2022
FH10Apr 30, 2022
FHL15Jan 4, 2022
FIG416Apr 30, 2022
FKBP1024Jan 12, 2022
FKRP13Jan 4, 2022
FKTN13Apr 30, 2022
FLCN27Jan 4, 2022
FLNA117Apr 30, 2022
FLNB94Apr 30, 2022
FLNB-AS13Dec 11, 2020
FLNC5Apr 30, 2022
FLNC-AS11Jan 4, 2022
FLT420Jan 4, 2022
FNBP1L1Dec 11, 2020
FOXC25Jan 4, 2022
FOXC2-AS12Dec 11, 2020
FOXH15Jan 4, 2022
FOXL31Jan 4, 2022
FOXN12Jun 30, 2017
FOXO41Dec 11, 2020
FOXP31Jan 4, 2022
FSCN24Jan 4, 2022
FTH11Jan 4, 2022
FXN5Jan 4, 2022
G6PC12Apr 30, 2022
G6PD61Apr 30, 2022
GAA38Apr 30, 2022
GABBR21Dec 11, 2020
GABRA31Dec 11, 2020
GAL3ST31Dec 11, 2020
GAL3ST41Dec 11, 2020
GALC1Jun 30, 2017
GALNS1Jan 4, 2022
GALT52Apr 30, 2022
GAMT3Jan 4, 2022
GAN7Apr 30, 2022
GAREM26Apr 30, 2022
GARS114Apr 30, 2022
GATA28Apr 30, 2022
GATA42Jan 4, 2022
GATA61Jan 4, 2022
GATAD12Jan 4, 2022
GATM2Dec 11, 2020
GBA19Apr 30, 2022
GBE12Jan 4, 2022
GCLC28Apr 30, 2022
GDAP14Jan 4, 2022
GDF212Jan 4, 2022
GDF57Jan 4, 2022
GDF5-AS13Jan 4, 2022
GFM16Jan 4, 2022
GH-LCR1Aug 5, 2019
GIPC31Aug 5, 2019
GJB110Jan 4, 2022
GJB262Apr 30, 2022
GJB38Jan 4, 2022
GJB61Apr 30, 2022
GJC25Apr 30, 2022
GJD2-DT2Jan 4, 2022
GLA5Jan 4, 2022
GLB11Dec 11, 2020
GLI222Apr 30, 2022
GLI39Jan 4, 2022
GLMN10Jan 4, 2022
GLRA11Jan 4, 2022
GNB43Jan 4, 2022
GNPAT19Apr 30, 2022
GNPTAB1Dec 11, 2020
GORAB1Jan 4, 2022
GP1BA3Jan 4, 2022
GP61Oct 10, 2018
GPD1L3Jan 4, 2022
GPHN1Jan 4, 2022
GPI22Apr 30, 2022
GPR191Jan 4, 2022
GPSM25Aug 5, 2019
GRHL22Jan 4, 2022
GRIN2A1Jan 4, 2022
GSDME3Dec 11, 2020
GSR24Apr 30, 2022
GSS15Apr 30, 2022
GUCA1B1Aug 5, 2019
GUCY2D16Jan 4, 2022
GUSB1Oct 10, 2018
HACL11Oct 10, 2018
HADH2Apr 30, 2022
HADHA7Apr 30, 2022
HARS113Jan 4, 2022
HARS21Oct 10, 2018
HBA166Apr 30, 2022
HBA283Apr 30, 2022
HBB210Apr 30, 2022
HBG112Apr 30, 2022
HBG27Apr 30, 2022
HCFC14Dec 11, 2020
HDAC41Dec 11, 2020
HELLS3Jan 4, 2022
HEXA23Apr 30, 2022
HEXIM21Dec 11, 2020
HGSNAT1Dec 11, 2020
HINT11Aug 5, 2019
HK141Apr 30, 2022
HMGCS24Aug 5, 2019
HNF1A3Apr 30, 2022
HNRNPUL2-BSCL27Apr 30, 2022
HOXD106Jan 4, 2022
HRAS6Apr 30, 2022
HSD17B49Apr 30, 2022
HSPB16Jan 4, 2022
HSPB33Aug 5, 2019
HSPB87Jan 4, 2022
HSPD11Dec 11, 2020
HSPG2218Apr 30, 2022
HTR2B1Oct 10, 2018
HUWE11Aug 5, 2019
ICAM51Dec 11, 2020
ICOS5Dec 11, 2020
IDH3B1Oct 10, 2018
IDUA2Jan 4, 2022
IFIH11Dec 11, 2020
IFNAR21Dec 11, 2020
IFNG1Jan 4, 2022
IFT8015Jan 4, 2022
IGH4Aug 5, 2019
IGHM4Aug 5, 2019
IGHMBP241Apr 30, 2022
IGLL114Apr 30, 2022
IKBKG8Apr 30, 2022
IKZF11Aug 5, 2019
IL21R7Jan 4, 2022
IL21R-AS12Dec 11, 2020
IL7R1Jan 4, 2022
ILF31Dec 11, 2020
ILK3Aug 5, 2019
IMPDH14Aug 5, 2019
IMPG23Dec 11, 2020
INF246Apr 30, 2022
INO805Jan 4, 2022
INO80-AS11Dec 11, 2020
INSR36Jan 4, 2022
IPP1Aug 5, 2019
IQSEC21Aug 5, 2019
IRF2BP25Jan 12, 2022
ISCU1Oct 10, 2018
JAG11Aug 5, 2019
JAK31Jun 30, 2017
JPH27Apr 30, 2022
JUP23Apr 30, 2022
KARS111Jan 4, 2022
KAT2B1Dec 11, 2020
KAT6B9Jan 4, 2022
KAZALD11Jan 4, 2022
KCNA511Jan 4, 2022
KCNE17Apr 30, 2022
KCNE24Dec 11, 2020
KCNE33Jan 4, 2022
KCNH234Apr 30, 2022
KCNJ112Apr 30, 2022
KCNJ27Apr 30, 2022
KCNK35Dec 11, 2020
KCNQ130Apr 30, 2022
KCNQ1-AS17Apr 30, 2022
KCNQ1OT12Jan 4, 2022
KCNQ23Dec 11, 2020
KCNQ42Jan 4, 2022
KCNT12Dec 11, 2020
KCP2Dec 11, 2020
KDM4B1Dec 11, 2020
KDM6A2Aug 5, 2019
KIAA07532Jun 30, 2017
KIAA12172Dec 11, 2020
KIF1A47Apr 30, 2022
KIF1B25Apr 30, 2022
KIF5A24Apr 30, 2022
KIZ3Dec 11, 2020
KLHL31Oct 10, 2018
KLHL71Dec 11, 2020
KLLN4Jan 4, 2022
KMT2D38Jan 4, 2022
KPNB1-DT1Jan 4, 2022
KRAS8Apr 30, 2022
KRIT116Apr 30, 2022
L1CAM1Jan 4, 2022
LAMA439Jan 12, 2022
LAMA4-AS11Jan 4, 2022
LAMP24Jan 4, 2022
LARGE11Jan 4, 2022
LARS27Jan 4, 2022
LARS2-AS11Dec 11, 2020
LAS1L1Jan 4, 2022
LBR21Apr 30, 2022
LCA54Aug 5, 2019
LDB332Apr 30, 2022
LDLR17Apr 30, 2022
LDLR-AS11Jan 4, 2022
LDLRAD216Apr 30, 2022
LDLRAP12Apr 30, 2022
LIFR33Apr 30, 2022
LIFR-AS11Aug 5, 2019
LIG41Jan 4, 2022
LINC006309Dec 11, 2020
LIPT21Aug 5, 2019
LITAF4Apr 30, 2022
LMBRD11Oct 10, 2018
LMNA30Apr 30, 2022
LOC100289580103Apr 30, 2022
LOC1005060716Aug 5, 2019
LOC1005073462Jan 4, 2022
LOC10144820222Jan 4, 2022
LOC10192705511Jan 4, 2022
LOC1019271573Jan 4, 2022
LOC10192800810Jan 4, 2022
LOC1027234391Jan 4, 2022
LOC10272356638Apr 30, 2022
LOC10537156631Apr 30, 2022
LOC1053717951Dec 11, 2020
LOC1053783112Dec 11, 2020
LOC106099062144Apr 30, 2022
LOC1060990645Apr 30, 2022
LOC1060990654Apr 30, 2022
LOC1066279818Apr 30, 2022
LOC10680461282Apr 30, 2022
LOC10680461364Apr 30, 2022
LOC1070805551Dec 11, 2020
LOC107133510212Apr 30, 2022
LOC1071812882Apr 30, 2022
LOC10730333815Jun 30, 2017
LOC1073033407Dec 11, 2020
LOC1073033432Dec 11, 2020
LOC1079822342Dec 11, 2020
LOC1079880327Jan 4, 2022
LOC1080218465Jan 4, 2022
LOC1089031481Jan 4, 2022
LOC1096115894Apr 30, 2022
LOC11000631974Apr 30, 2022
LOC1100112163Dec 11, 2020
LOC1101212696Apr 30, 2022
LOC1101214863Jan 4, 2022
LOC1108063061Jun 30, 2017
LOC1116744634Apr 30, 2022
LOC11167447233Jan 4, 2022
LOC1116744759Jan 4, 2022
LOC11167447713Apr 30, 2022
LOC1118119652Aug 5, 2019
LOC1124862231Jun 30, 2017
LOC1125774863Apr 30, 2022
LOC1126947569Apr 30, 2022
LOC1129975402Jan 4, 2022
LOC1136338771Dec 11, 2020
LOC1136641061Jan 4, 2022
LOC1139399443Jan 4, 2022
LOC1148278502Jan 4, 2022
LOC1148278519Jan 4, 2022
LOC1221522961Jan 4, 2022
LOC1239562102Jan 4, 2022
LOC1241531546Apr 30, 2022
LOX8Jan 4, 2022
LOXHD111Jan 4, 2022
LOXL41Jan 4, 2022
LPIN13Apr 30, 2022
LPIN253Apr 30, 2022
LRBA28Apr 30, 2022
LRP1B1Dec 11, 2020
LRP53Jan 4, 2022
LRPPRC8Dec 11, 2020
LRRC21Oct 10, 2018
LRRC512Aug 5, 2019
LRRC566Apr 30, 2022
LRRC8A11Jan 4, 2022
LRRN41Dec 11, 2020
LRSAM19Apr 30, 2022
LRTOMT3Jan 4, 2022
LZTR116Apr 30, 2022
MADD1Jan 4, 2022
MAGEL21Aug 5, 2019
MAK2Jan 4, 2022
MALT12Jan 4, 2022
MAN2B11Jun 30, 2017
MAP2K18Apr 30, 2022
MAP2K28Apr 30, 2022
MAP3K149Jan 4, 2022
MAP3K14-AS13Dec 11, 2020
MARS118Apr 30, 2022
MASP15Apr 30, 2022
MAT1A4Jan 4, 2022
MATN31Jan 4, 2022
MCCC21Aug 5, 2019
MCEE2Aug 5, 2019
MECP237Jan 4, 2022
MED13L2Dec 11, 2020
MED2520Jan 4, 2022
MEF2C1Aug 5, 2019
MEFV108Apr 30, 2022
MEN159Apr 30, 2022
MERTK12Dec 11, 2020
MET13Apr 30, 2022
MFF-DT4Apr 30, 2022
MFN222Apr 30, 2022
MFSD101Jan 4, 2022
MHRT5Apr 30, 2022
MID11Aug 5, 2019
MILR12Jan 4, 2022
MIR6511B12Dec 11, 2020
MIR67661Dec 11, 2020
MIR67951Dec 11, 2020
MLH138Apr 30, 2022
MLYCD1Apr 30, 2022
MMAA3Apr 30, 2022
MMAB5Apr 30, 2022
MMACHC5Oct 10, 2018
MMADHC1Oct 10, 2018
MMUT13Apr 30, 2022
MOGS5Apr 30, 2022
MORC28Jan 4, 2022
MPV171Oct 10, 2018
MPZ10Apr 30, 2022
MRE1117Apr 30, 2022
MRGPRF1Dec 11, 2020
MRPL361Jan 4, 2022
MRPS223Jan 4, 2022
MS4A12Jan 4, 2022
MSH264Apr 30, 2022
MSH327Apr 30, 2022
MSH673Apr 30, 2022
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
MTHFR7Apr 30, 2022
MTMR211Jan 4, 2022
MTR11Jan 4, 2022
MTRR14Apr 30, 2022
MUS811Aug 5, 2019
MUTYH34Apr 30, 2022
MVK35Apr 30, 2022
MYBPC346Apr 30, 2022
MYBPHL1Dec 11, 2020
MYCL1Aug 5, 2019
MYH104Aug 5, 2019
MYH11105Apr 30, 2022
MYH1436Apr 30, 2022
MYH666Apr 30, 2022
MYH739Apr 30, 2022
MYH7B2Dec 11, 2020
MYH81Apr 30, 2022
MYH913Apr 30, 2022
MYHAS1Apr 30, 2022
MYL24Jan 12, 2022
MYL32Aug 5, 2019
MYLK86Apr 30, 2022
MYLK-AS19Jan 4, 2022
MYLK211Jan 4, 2022
MYO15A46Apr 30, 2022
MYO1A4Dec 11, 2020
MYO1H1Dec 11, 2020
MYO3A15Apr 30, 2022
MYO611Apr 30, 2022
MYO7A23Apr 30, 2022
MYOT8Jan 4, 2022
MYOZ23Jan 4, 2022
MYPN24Jan 4, 2022
NAA101Dec 11, 2020
NADSYN11Dec 11, 2020
NAGLU1Dec 11, 2020
NAPRT2Jan 4, 2022
NBN31Apr 30, 2022
NCAPH22Dec 11, 2020
NDE152Apr 30, 2022
NDRG113Jan 4, 2022
NDUFA11Oct 10, 2018
NDUFA111Oct 10, 2018
NDUFAF11Jan 4, 2022
NDUFAF22Aug 5, 2019
NDUFAF42Jan 4, 2022
NDUFAF54Jan 12, 2022
NDUFS14Jan 4, 2022
NDUFS23Jan 4, 2022
NDUFS32Aug 5, 2019
NDUFS41Oct 10, 2018
NDUFS61Jan 4, 2022
NDUFS71Jan 4, 2022
NDUFV23Jan 4, 2022
NEFL6Jan 4, 2022
NEK134Jan 12, 2022
NEXN5Jan 4, 2022
NF1210Apr 30, 2022
NF23Jan 4, 2022
NFKB14Jan 4, 2022
NFKB211Jan 4, 2022
NFKBIA6Jan 4, 2022
NFKBIZ1Dec 11, 2020
NGF4Apr 30, 2022
NGF-AS14Apr 30, 2022
NHS2Dec 11, 2020
NHSL21Dec 11, 2020
NIPBL1Jan 4, 2022
NLGN4X2Jan 4, 2022
NLRP1248Apr 30, 2022
NLRP349Apr 30, 2022
NMNAT12Aug 5, 2019
NOD259Apr 30, 2022
NODAL3Apr 30, 2022
NOTCH3144Jan 4, 2022
NOTUM1Dec 11, 2020
NPC14Dec 11, 2020
NPEPPS2Jan 4, 2022
NR2E38Dec 11, 2020
NRAP1Dec 11, 2020
NRL12Jan 4, 2022
NSUN614Jan 4, 2022
NT5C3A15Apr 30, 2022
NTHL12Jan 4, 2022
NTRK123Apr 30, 2022
OBSCN21Jan 4, 2022
OCA21Jan 4, 2022
OCRL1Dec 11, 2020
ODAD14Apr 30, 2022
ODAD21Apr 30, 2022
ODAD33Apr 30, 2022
OPA15Jan 4, 2022
OPA1-AS11Jan 4, 2022
OPTN1Jan 4, 2022
OR10Z11Aug 5, 2019
OR6A22Jan 4, 2022
OTC13Jan 4, 2022
OTOA3Aug 5, 2019
OTOF29Jan 4, 2022
OTOP21Jan 4, 2022
OTUD6B1Jan 4, 2022
OXCT15Apr 30, 2022
OXTR5Jan 4, 2022
P3H134Jan 4, 2022
PABPC1L1Dec 11, 2020
PALB232Apr 30, 2022
PARD3B3Dec 11, 2020
PARP42Jan 4, 2022
PARP93Dec 11, 2020
PATJ2Jan 4, 2022
PAX41Apr 30, 2022
PC7Jan 4, 2022
PCARE14Jan 4, 2022
PCCA4Jan 4, 2022
PCCB5Jan 4, 2022
PCDH1534Apr 30, 2022
PCDH192Jan 4, 2022
PCK210Jan 4, 2022
PCNT70Apr 30, 2022
PCSK913Apr 30, 2022
PDCD101Jun 30, 2017
PDE3B2Aug 5, 2019
PDE6A12Jan 4, 2022
PDE6B11Jan 4, 2022
PDE6B-AS11Aug 5, 2019
PDHX4Jan 4, 2022
PDK32Oct 10, 2018
PDSS11Oct 10, 2018
PDZD71Dec 11, 2020
PEX11Dec 11, 2020
PEX131Jan 4, 2022
PEX62Dec 11, 2020
PEX78Apr 30, 2022
PFKL12Aug 5, 2019
PFKM28Apr 30, 2022
PGAM21Apr 30, 2022
PGK17Apr 30, 2022
PGM12Apr 30, 2022
PHF21Dec 11, 2020
PHF32Dec 11, 2020
PHKB1Jan 4, 2022
PHOX2B7Apr 30, 2022
PIEZO1299Apr 30, 2022
PIGQ1Jan 4, 2022
PIK3CA3Jan 4, 2022
PIK3CD15Apr 30, 2022
PIK3CG9Jan 4, 2022
PIK3R19Apr 30, 2022
PINK17Jan 4, 2022
PINK1-AS5Jan 4, 2022
PJVK3Jan 4, 2022
PKD1438Dec 11, 2020
PKD1-AS142Dec 11, 2020
PKD253Dec 11, 2020
PKD2L2-DT8Jan 4, 2022
PKLR47Apr 30, 2022
PKP227Apr 30, 2022
PLCG234Jan 4, 2022
PLEKHG21Jan 4, 2022
PLEKHG32Apr 30, 2022
PLEKHG534Apr 30, 2022
PLN3Jan 4, 2022
PLOD149Apr 30, 2022
PLOD21Jan 4, 2022
PLOD322Jan 4, 2022
PLS31Jan 4, 2022
PMP223Jan 4, 2022
PMS263Apr 30, 2022
PNPLA61Dec 11, 2020
POLD123Apr 30, 2022
POLE59Apr 30, 2022
POLG23Jan 12, 2022
POLG22Jan 4, 2022
POLR1C1Jan 4, 2022
POR37Apr 30, 2022
POU3F44Apr 30, 2022
POU4F32Aug 5, 2019
PPIB7Apr 30, 2022
PPM1B1Aug 5, 2019
PPP6R12Jan 4, 2022
PRCD1Oct 10, 2018
PRDM166Jan 4, 2022
PREPL1Jan 4, 2022
PRKAG215Apr 30, 2022
PRKCD8Apr 30, 2022
PRKDC6Jan 4, 2022
PRKG117Apr 30, 2022
PRNP8Apr 30, 2022
PROM17Jan 4, 2022
PRPF315Jan 4, 2022
PRPF31-AS11Jan 4, 2022
PRPF815Dec 11, 2020
PRPH21Dec 11, 2020
PRPS11Oct 10, 2018
PRSS145Jan 4, 2022
PRX26Apr 30, 2022
PSAP1Jan 4, 2022
PSEN12Jan 4, 2022
PSEN23Apr 30, 2022
PSMD11Oct 10, 2018
PSME31Dec 11, 2020
PSTPIP169Apr 30, 2022
PTCH114Jan 4, 2022
PTCHD13Oct 10, 2018
PTEN43Apr 30, 2022
PTH1R13Jan 4, 2022
PTPN1168Apr 30, 2022
PTPRB2Jan 4, 2022
PTPRC14Dec 11, 2020
PUS14Aug 5, 2019
PUS101Jan 4, 2022
PUSL11Jan 4, 2022
PVALB1Dec 11, 2020
PYGL2Jan 4, 2022
PYGM1Apr 30, 2022
QARS11Dec 11, 2020
RAB33A4Jan 4, 2022
RAB40AL9Dec 11, 2020
RAB7A2Apr 30, 2022
RAC22Apr 30, 2022
RAD51C9Apr 30, 2022
RAD51D13Apr 30, 2022
RAD51L3-RFFL13Apr 30, 2022
RAF113Apr 30, 2022
RAG16Jan 4, 2022
RAG26Jan 4, 2022
RALB1Dec 11, 2020
RANBP22Jan 4, 2022
RARS25Aug 5, 2019
RASA137Jan 4, 2022
RASA211Apr 30, 2022
RB19Jan 4, 2022
RBM2021Apr 30, 2022
RD34Dec 11, 2020
RDH121Jan 4, 2022
RECQL11Jan 4, 2022
RECQL41Dec 11, 2020
REEP14Apr 30, 2022
RERE1Jan 4, 2022
RET53Apr 30, 2022
RETREG113Apr 30, 2022
RETREG1-AS12Apr 30, 2022
RFT11Jan 4, 2022
RFX62Jan 4, 2022
RGR1Aug 5, 2019
RHO6Aug 5, 2019
RIPPLY11Dec 11, 2020
RIT14Jan 4, 2022
RLBP15Dec 11, 2020
RMRP2Dec 11, 2020
RNF1684Apr 30, 2022
RNF2131Aug 5, 2019
RNF213-AS11Aug 5, 2019
ROM11Jan 4, 2022
RP117Jan 4, 2022
RP22Aug 5, 2019
RP93Jan 4, 2022
RPE653Dec 11, 2020
RPGR7Jan 4, 2022
RPGRIP116Jan 4, 2022
RPL36A-HNRNPH25Jan 4, 2022
RPL51Jun 30, 2017
RPS152Jun 30, 2017
RPS191Jun 30, 2017
RPS241Jun 30, 2017
RPS6KA31Oct 10, 2018
RPS71Jun 30, 2017
RRM2B1Jun 30, 2017
RSPH11Apr 30, 2022
RSPH91Jan 4, 2022
RUNX13Jan 4, 2022
RUNX29Apr 30, 2022
RYR115Apr 30, 2022
RYR290Apr 30, 2022
RYR31Jan 4, 2022
SACS1Jan 4, 2022
SAG6Jan 4, 2022
SAMD97Apr 30, 2022
SAMD9L6Apr 30, 2022
SASH11Dec 11, 2020
SBDS6Jun 30, 2017
SBF162Apr 30, 2022
SBF221Jan 4, 2022
SBF2-AS15Jan 4, 2022
SC5D1Aug 5, 2019
SCARB21Jan 4, 2022
SCN10A2Aug 5, 2019
SCN1A-AS129Apr 30, 2022
SCN1B10Jan 4, 2022
SCN2A1Dec 11, 2020
SCN2B1Jan 4, 2022
SCN3A1Dec 11, 2020
SCN3B8Dec 11, 2020
SCN4A1Aug 5, 2019
SCN4B3Jan 4, 2022
SCN5A58Apr 30, 2022
SCN9A34Apr 30, 2022
SCNN1D1Jan 4, 2022
SCO12Aug 5, 2019
SCO26Jan 4, 2022
SDHA21Jan 4, 2022
SDHAF11Oct 10, 2018
SDHB25Apr 30, 2022
SDHC13Apr 30, 2022
SDHD14Apr 30, 2022
SEC23B38Apr 30, 2022
SEC24D1Jan 4, 2022
SECTM11Dec 11, 2020
SEMA4A2Dec 11, 2020
SERPINF11Jan 4, 2022
SERPINH112Apr 30, 2022
SETBP11Dec 11, 2020
SETX43Apr 30, 2022
SGCA8Jan 4, 2022
SGCB2Jan 4, 2022
SGCD10Apr 30, 2022
SGCG8Jan 4, 2022
SH3TC226Jan 4, 2022
SHH8Jan 4, 2022
SHOC28Jan 4, 2022
SHOX6Apr 30, 2022
SIX33Apr 30, 2022
SKI38Apr 30, 2022
SKIC37Jan 4, 2022
SLC12A614Apr 30, 2022
SLC12A94Apr 30, 2022
SLC17A51Jun 30, 2017
SLC19A21Apr 30, 2022
SLC22A541Apr 30, 2022
SLC25A137Jan 4, 2022
SLC25A152Jan 4, 2022
SLC25A193Oct 10, 2018
SLC25A201Jun 30, 2017
SLC25A226Jan 4, 2022
SLC25A31Oct 10, 2018
SLC25A46Jan 4, 2022
SLC26A225Apr 30, 2022
SLC26A428Jan 4, 2022
SLC26A4-AS13Aug 5, 2019
SLC26A54Jan 4, 2022
SLC26A71Jan 4, 2022
SLC2A1023Apr 30, 2022
SLC34A33Jan 4, 2022
SLC35D14Jan 4, 2022
SLC36A21Jan 4, 2022
SLC38A51Dec 11, 2020
SLC3A17Jan 4, 2022
SLC4A164Apr 30, 2022
SLC52A32Apr 30, 2022
SLC5A77Apr 30, 2022
SLC6A83Jan 4, 2022
SLC8A31Jan 4, 2022
SLCO1B136Apr 30, 2022
SLCO1B342Apr 30, 2022
SLCO1B3-SLCO1B742Apr 30, 2022
SLX422Jun 30, 2017
SMAD317Apr 30, 2022
SMAD423Apr 30, 2022
SMAD910Jan 4, 2022
SMARCA423Apr 30, 2022
SMARCB14Apr 30, 2022
SMC1A1Jan 4, 2022
SMC31Jan 4, 2022
SMPD12Jan 4, 2022
SNAPC51Apr 30, 2022
SNHG142Jan 4, 2022
SNRNP20010Jan 4, 2022
SNTA117Jan 4, 2022
SNX224Dec 11, 2020
SNX291Dec 11, 2020
SOD12Jan 4, 2022
SON1Jan 4, 2022
SOS147Apr 30, 2022
SOS212Apr 30, 2022
SOX181Jan 4, 2022
SOX917Apr 30, 2022
SPAG52Dec 11, 2020
SPG76Jan 4, 2022
SPINK129Jan 4, 2022
SPRED16Apr 30, 2022
SPTA1167Apr 30, 2022
SPTB139Apr 30, 2022
SPTLC111Apr 30, 2022
SPTLC210Apr 30, 2022
SRFBP18Jan 4, 2022
SRMS2Dec 11, 2020
SRP722Apr 30, 2022
SSBP21Dec 11, 2020
SSUH22Jan 4, 2022
ST6GALNAC4-ST6GALNAC6-AK114Apr 30, 2022
STAMBP2Jan 4, 2022
STAT31Dec 11, 2020
STK1121Apr 30, 2022
STRC6Aug 5, 2019
SUCLA23Jan 4, 2022
SUCLG16Jan 4, 2022
SUFU6Apr 30, 2022
SUOX4Aug 5, 2019
SUPT3H1Jan 4, 2022
SURF14Jan 4, 2022
SYCE22Dec 11, 2020
SYNE153Jan 4, 2022
SYNE41Jan 4, 2022
TAF103Aug 5, 2019
TAF41Feb 2, 2022
TAFAZZIN1Jun 30, 2017
TAMM411Dec 11, 2020
TARDBP1Dec 11, 2020
TARID3Jan 4, 2022
TAS1R21Dec 11, 2020
TBC1D241May 27, 2015
TBCEL-TECTA23Jan 4, 2022
TBCK1Aug 5, 2019
TBRG11Dec 11, 2020
TCAP3Jan 4, 2022
TCEA21Jan 4, 2022
TCF314Apr 30, 2022
TCIRG12Jan 4, 2022
TCN15Jan 4, 2022
TCN211Apr 30, 2022
TCP11L21Dec 11, 2020
TDGF11Oct 10, 2018
TDP15Jan 4, 2022
TECTA23Jan 4, 2022
TEK24Apr 30, 2022
TERC3Jun 30, 2017
TERT7Apr 30, 2022
TFE31Jan 4, 2022
TFG12Apr 30, 2022
TGFB210Apr 30, 2022
TGFB314Apr 30, 2022
TGFBR119Apr 30, 2022
TGFBR224Apr 30, 2022
TGIF15Jan 4, 2022
TINF22Jun 30, 2017
TJP21Dec 11, 2020
TK22Dec 11, 2020
TLN22Dec 11, 2020
TMC14Jan 4, 2022
TMEM1271Oct 10, 2018
TMEM261Jan 4, 2022
TMEM4316Jan 4, 2022
TMEM701Oct 10, 2018
TMIE2Apr 30, 2022
TMPO5Dec 11, 2020
TMPRSS132Dec 11, 2020
TMPRSS310Jan 12, 2022
TNFAIP320Apr 30, 2022
TNFRSF13B19Apr 30, 2022
TNFRSF13C7Apr 30, 2022
TNFRSF1A25Apr 30, 2022
TNFSF121Apr 30, 2022
TNFSF12-TNFSF131Apr 30, 2022
TNNC11Aug 5, 2019
TNNI35Jan 4, 2022
TNNT212Apr 30, 2022
TOE11Aug 5, 2019
TOMT1Jan 4, 2022
TONSL1Jan 4, 2022
TONSL-AS11Jan 4, 2022
TOPORS4Jan 4, 2022
TP5340Apr 30, 2022
TPI116Apr 30, 2022
TPM15Jan 4, 2022
TPRN7Apr 30, 2022
TRAP11Dec 11, 2020
TRAPPC101Dec 11, 2020
TRB45Jan 4, 2022
TRDN14Jan 4, 2022
TRIM28Jan 4, 2022
TRIM59-IFT8015Jan 4, 2022
TRIOBP13Jan 4, 2022
TRIP1152Apr 30, 2022
TRMU9Jan 4, 2022
TRNT11Jan 4, 2022
TRPM31Jan 4, 2022
TRPM434Jan 12, 2022
TRPV449Apr 30, 2022
TSC127Apr 30, 2022
TSC282Apr 30, 2022
TSPAN71Oct 10, 2018
TTC21B39Apr 30, 2022
TTC21B-AS14Dec 11, 2020
TTC83Aug 5, 2019
TTN611Apr 30, 2022
TTN-AS1316Apr 30, 2022
TTR37Apr 30, 2022
TUBB4A1Dec 11, 2020
TUBB61Dec 11, 2020
TUFM2Aug 5, 2019
TULP19Jan 4, 2022
TWNK3Jan 4, 2022
TYMP6Jan 4, 2022
UBE2A1Jun 30, 2017
UBE3A2Jan 4, 2022
UBR41Dec 11, 2020
UBTF1Jan 4, 2022
UGT1A66Apr 30, 2022
UGT1A131Apr 30, 2022
UGT1A1066Apr 30, 2022
UGT1A332Apr 30, 2022
UGT1A432Apr 30, 2022
UGT1A532Apr 30, 2022
UGT1A644Apr 30, 2022
UGT1A765Apr 30, 2022
UGT1A866Apr 30, 2022
UGT1A966Apr 30, 2022
UNC5A1Jan 4, 2022
UNG1Oct 10, 2018
UPP12Dec 11, 2020
UQCRB1Aug 5, 2019
UQCRQ1Oct 10, 2018
USH1C17Jan 4, 2022
USH1G5Jan 4, 2022
USH2A100Apr 30, 2022
USH2A-AS17Jan 4, 2022
USH2A-AS24Dec 11, 2020
VANGL12Jan 4, 2022
VARS21Jan 4, 2022
VAV112Jan 4, 2022
VAV21Dec 11, 2020
VCAN1Jan 4, 2022
VCAN-AS11Jan 4, 2022
VCL22Apr 30, 2022
VCP2Jun 30, 2017
VEGFC3Jan 4, 2022
VHL11Apr 30, 2022
VRK22Jun 30, 2017
VWF87Jan 12, 2022
WAC1Aug 5, 2019
WARS21Jan 4, 2022
WASHC41Oct 10, 2018
WDR1931Jan 4, 2022
WDR3527Jan 4, 2022
WDR35-DT1Jan 4, 2022
WFS151Apr 30, 2022
WHRN13Jan 4, 2022
WNK139Apr 30, 2022
WRAP536Jun 30, 2017
WSCD21Dec 11, 2020
WT15Jan 4, 2022
XBP11Aug 5, 2019
XIAP2Apr 30, 2022
XRN11Jan 4, 2022
YARS15Dec 11, 2020
YARS22Jan 4, 2022
ZBTB246Jan 4, 2022
ZDHHC81Jan 4, 2022
ZFP571Jan 4, 2022
ZIC24Jan 12, 2022
ZMYND101Apr 30, 2022
ZNF2762Jun 30, 2017
ZNF518A2Jun 30, 2017

Condition

NameSubmissionsLast Updated
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Aug 5, 2019
3-methylcrotonyl-CoA carboxylase 2 deficiency1Aug 5, 2019
3-methylglutaconic aciduria type 91Aug 5, 2019
3MC syndrome 14Apr 30, 2022
Acetyl-CoA: carboxylase deficiency1Aug 5, 2019
Action myoclonus-renal failure syndrome1Jan 4, 2022
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1Aug 5, 2019
Acyl-CoA dehydrogenase 9 deficiency2Jan 4, 2022
Adenosine kinase deficiency2Apr 30, 2022
Agammaglobulinemia 2, autosomal recessive12Apr 30, 2022
Agammaglobulinemia 4, autosomal recessive4Jan 4, 2022
Agammaglobulinemia 5, autosomal dominant10Jan 4, 2022
Agammaglobulinemia 8, autosomal dominant14Apr 30, 2022
Agenesis of the corpus callosum with peripheral neuropathy11Apr 30, 2022
Alstrom syndrome4Apr 30, 2022
Amyotrophic lateral sclerosis, susceptibility to, 243Aug 5, 2019
Anemia, congenital dyserythropoietic, type 1a50Apr 30, 2022
Aneurysm-osteoarthritis syndrome13Apr 30, 2022
Angelman syndrome1Jan 4, 2022
Aortic aneurysm, familial thoracic 108Jan 4, 2022
Aortic aneurysm, familial thoracic 422Dec 11, 2020
Aortic aneurysm, familial thoracic 79Aug 5, 2019
Aortic aneurysm, familial thoracic 813Apr 30, 2022
Arrhythmogenic right ventricular dysplasia 923Apr 30, 2022
Arterial tortuosity syndrome19Apr 30, 2022
Asphyxiating thoracic dystrophy 210Jan 4, 2022
Asphyxiating thoracic dystrophy 379Apr 30, 2022
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia3Jan 4, 2022
Ataxia-telangiectasia syndrome10Aug 5, 2019
Ataxia-telangiectasia-like disorder 112Apr 30, 2022
Atrial fibrillation, familial, 141Jan 4, 2022
Atrial fibrillation, familial, 711Jan 4, 2022
Autism, susceptibility to, 181Aug 5, 2019
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD6Apr 30, 2022
Autoinflammatory syndrome, familial, Behcet-like20Apr 30, 2022
Autosomal dominant aplasia and myelodysplasia2Apr 30, 2022
Autosomal dominant nonsyndromic hearing loss 151Aug 5, 2019
Autosomal dominant nonsyndromic hearing loss 2A1Jan 4, 2022
Autosomal dominant nonsyndromic hearing loss 4B3Aug 5, 2019
Autosomal dominant nonsyndromic hearing loss 52Dec 11, 2020
Autosomal dominant slowed nerve conduction velocity10Jan 4, 2022
Autosomal recessive agammaglobulinemia 14Aug 5, 2019
Autosomal recessive ataxia due to ubiquinone deficiency5Jan 4, 2022
Autosomal recessive axonal neuropathy with neuromyotonia1Aug 5, 2019
Autosomal recessive early-onset Parkinson disease 63Jan 4, 2022
Autosomal recessive hypophosphatemic bone disease3Jan 4, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2D5Jan 4, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2E2Jan 4, 2022
Autosomal recessive nonsyndromic hearing loss 151Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 161Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 222Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 2810Jan 4, 2022
Autosomal recessive nonsyndromic hearing loss 292Jan 4, 2022
Autosomal recessive nonsyndromic hearing loss 328Apr 30, 2022
Autosomal recessive nonsyndromic hearing loss 308Apr 30, 2022
Autosomal recessive nonsyndromic hearing loss 353Apr 30, 2022
Autosomal recessive nonsyndromic hearing loss 362Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 62Apr 30, 2022
Autosomal recessive nonsyndromic hearing loss 612Jan 4, 2022
Autosomal recessive nonsyndromic hearing loss 633Jan 4, 2022
Autosomal recessive nonsyndromic hearing loss 761Jan 4, 2022
Autosomal recessive nonsyndromic hearing loss 7711Jan 4, 2022
Autosomal recessive nonsyndromic hearing loss 795Apr 30, 2022
Autosomal recessive nonsyndromic hearing loss 87Jan 12, 2022
Autosomal recessive osteopetrosis 12Jan 4, 2022
BAP1-related tumor predisposition syndrome7Jan 4, 2022
Biotinidase deficiency15Apr 30, 2022
Bloom syndrome8Jan 4, 2022
Bone fragility with contractures, arterial rupture, and deafness11Jan 4, 2022
Bone mineral density quantitative trait locus 181Jan 4, 2022
Breast-ovarian cancer, familial, susceptibility to, 412Apr 30, 2022
Bruck syndrome 21Jan 4, 2022
Brugada syndrome 22Jan 4, 2022
Brugada syndrome 415Jan 4, 2022
Brugada syndrome 63Jan 4, 2022
CBL-related disorder2Aug 5, 2019
Capillary malformation-arteriovenous malformation 12Jul 20, 2020
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22Aug 5, 2019
Cardiofaciocutaneous syndrome 47Apr 30, 2022
Cardiomyopathy, familial hypertrophic 277Apr 30, 2022
Carnitine palmitoyl transferase 1A deficiency7Apr 30, 2022
Catecholaminergic polymorphic ventricular tachycardia 27Jan 4, 2022
Catecholaminergic polymorphic ventricular tachycardia 514Jan 4, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Dec 11, 2020
Cerebral cavernous malformation 211Apr 30, 2022
Charcot-Marie-Tooth disease X-linked dominant 17Jan 4, 2022
Charcot-Marie-Tooth disease axonal type 2O1Jul 20, 2020
Charcot-Marie-Tooth disease axonal type 2P9Apr 30, 2022
Charcot-Marie-Tooth disease axonal type 2Z2Dec 11, 2020
Charcot-Marie-Tooth disease dominant intermediate C2Aug 5, 2019
Charcot-Marie-Tooth disease dominant intermediate F3Jan 4, 2022
Charcot-Marie-Tooth disease type 1C3Apr 30, 2022
Charcot-Marie-Tooth disease type 2B2Apr 30, 2022
Charcot-Marie-Tooth disease type 2R5Jan 4, 2022
Charcot-Marie-Tooth disease type 4B17Jan 4, 2022
Charcot-Marie-Tooth disease type 4B218Jan 4, 2022
Charcot-Marie-Tooth disease type 4B353Apr 30, 2022
Charcot-Marie-Tooth disease type 4D12Jan 4, 2022
Charcot-Marie-Tooth disease type 4H8Jan 4, 2022
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Jan 4, 2022
Choroideremia2Jan 4, 2022
Chudley-McCullough syndrome3Aug 5, 2019
Citrullinemia type I14Jan 4, 2022
Cocoon syndrome1Aug 5, 2019
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Jan 4, 2022
Cole-Carpenter syndrome 21Jan 4, 2022
Combined immunodeficiency due to LRBA deficiency13Apr 30, 2022
Combined immunodeficiency due to MALT1 deficiency2Jan 4, 2022
Combined malonic and methylmalonic acidemia5Jan 4, 2022
Combined oxidative phosphorylation defect type 201Jan 4, 2022
Combined oxidative phosphorylation defect type 42Aug 5, 2019
Complement component 7 deficiency1Jan 4, 2022
Congenital bilateral aplasia of vas deferens from CFTR mutation2Apr 30, 2022
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome17Jan 4, 2022
Congenital disorder of glycosylation type Ir1Jan 4, 2022
Congenital disorder of glycosylation, type IIq1Jan 4, 2022
Congenital dyserythropoietic anemia, type I8Dec 11, 2020
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type3Dec 11, 2020
Congenital sensory neuropathy with selective loss of small myelinated fibers3Apr 30, 2022
Constitutional megaloblastic anemia with severe neurologic disease9Apr 30, 2022
Cornelia de Lange syndrome 11Jan 4, 2022
Cornelia de Lange syndrome 31Jan 4, 2022
Cowden syndrome 42Jan 4, 2022
Creatine transporter deficiency1Jan 4, 2022
Cutis laxa, autosomal recessive, type 1B16Apr 30, 2022
Cystinuria4Jan 4, 2022
DDX41-related hematologic malignancy predisposition syndrome3Apr 30, 2022
Danon disease3Jan 4, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase34Apr 30, 2022
Deficiency of butyryl-CoA dehydrogenase4Apr 30, 2022
Deficiency of guanidinoacetate methyltransferase2Jan 4, 2022
Deficiency of malonyl-CoA decarboxylase1Apr 30, 2022
Developmental and epileptic encephalopathy, 31Jan 4, 2022
Developmental and epileptic encephalopathy, 771Jan 4, 2022
Developmental and epileptic encephalopathy, 91Jan 4, 2022
Diabetes mellitus, transient neonatal, 11Jan 4, 2022
Dilated cardiomyopathy 1DD17Apr 30, 2022
Dilated cardiomyopathy 1JJ35Jan 12, 2022
Dilated cardiomyopathy 2B2Jan 4, 2022
Ectodermal dysplasia and immunodeficiency 22Jan 4, 2022
Ehlers-Danlos syndrome, classic type34Dec 11, 2020
Ehlers-Danlos syndrome, classic type, 246Apr 30, 2022
Ehlers-Danlos syndrome, kyphoscoliotic type 141Apr 30, 2022
Ehlers-Danlos syndrome, musculocontractural type 11Jan 4, 2022
Elliptocytosis 118Apr 30, 2022
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1Aug 5, 2019
Episodic pain syndrome, familial, 22Aug 5, 2019
Ethylmalonic encephalopathy1Aug 5, 2019
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation1Aug 5, 2019
Familial Mediterranean fever1Oct 30, 2019
Familial cancer of breast16Apr 30, 2022
Familial cold autoinflammatory syndrome 248Apr 30, 2022
Familial dysautonomia21Apr 30, 2022
Familial infantile myoclonic epilepsy1May 27, 2015
Familial pulmonary capillary hemangiomatosis42Apr 30, 2022
Fanconi anemia complementation group I1Jan 4, 2022
Fanconi anemia complementation group J7Aug 5, 2019
Fetal hemoglobin quantitative trait locus 13Jan 4, 2022
Fibrosis of extraocular muscles, congenital, 51Jan 4, 2022
Geroderma osteodysplastica1Jan 4, 2022
Giant axonal neuropathy 15Apr 30, 2022
Gilbert syndrome2Apr 30, 2022
Glomuvenous malformation8Jan 4, 2022
Glycogen storage disease IXb1Jan 4, 2022
Glycogen storage disease due to muscle beta-enolase deficiency2Apr 30, 2022
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency7Apr 30, 2022
Glycogen storage disease, type II36Apr 30, 2022
Glycogen storage disease, type V1Apr 30, 2022
Glycogen storage disease, type VI1Jan 4, 2022
Glycogen storage disease, type VII26Apr 30, 2022
HNSHA due to aldolase A deficiency8Apr 30, 2022
Hb SS disease1Apr 30, 2022
Hemolytic anemia due to adenylate kinase deficiency14Apr 30, 2022
Hemolytic anemia due to glucophosphate isomerase deficiency22Apr 30, 2022
Hemolytic anemia due to glutathione reductase deficiency14Apr 30, 2022
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency15Apr 30, 2022
Hennekam lymphangiectasia-lymphedema syndrome 14Jan 4, 2022
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 14Jan 4, 2022
Hereditary factor VIII deficiency disease195Apr 30, 2022
Hereditary insensitivity to pain with anhidrosis19Apr 30, 2022
Hereditary pancreatitis90Jan 4, 2022
Hereditary persistence of fetal hemoglobin9Apr 30, 2022
Hereditary sensory and autonomic neuropathy with spastic paraplegia6Jan 4, 2022
Hereditary spastic paraplegia 75Jan 4, 2022
Hereditary spherocytosis type 1122Apr 30, 2022
Hereditary spherocytosis type 527Apr 30, 2022
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11Aug 5, 2019
Holoprosencephaly 118Jan 4, 2022
Holoprosencephaly 42Jan 4, 2022
Holoprosencephaly 53Jan 12, 2022
Hydrocephalus, nonsyndromic, autosomal recessive 21Jun 28, 2017
Hyper-IgM syndrome type 11Dec 11, 2020
Hyper-IgM syndrome type 21Jan 4, 2022
Hyper-IgM syndrome type 35Jan 4, 2022
Hypercholesterolemia, familial, 42Apr 30, 2022
Hyperekplexia 11Jan 4, 2022
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2Jan 4, 2022
Hypertrophic cardiomyopathy 111Jan 4, 2022
Hypertrophic cardiomyopathy 103Jan 12, 2022
Hypertrophic cardiomyopathy 163Jan 4, 2022
Hypertrophic cardiomyopathy 175Jan 4, 2022
Hypertrophic cardiomyopathy 81Aug 5, 2019
Hypogonadotropic hypogonadism 6 with or without anosmia2Jan 4, 2022
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome2Jan 4, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Aug 5, 2019
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE1Jan 4, 2022
Imerslund-Grasbeck syndrome4Aug 5, 2019
Immunodeficiency 1041Jan 4, 2022
Immunodeficiency 1410Dec 11, 2020
Immunodeficiency, common variable, 15Dec 11, 2020
Immunodeficiency, common variable, 108Jan 4, 2022
Immunodeficiency, common variable, 124Jan 4, 2022
Immunodeficiency, common variable, 145Jan 12, 2022
Immunodeficiency, common variable, 37Apr 30, 2022
Immunodeficiency, common variable, 47Apr 30, 2022
Immunodeficiency, common variable, 52Jan 4, 2022
Immunodeficiency, common variable, 61Jan 4, 2022
Immunodeficiency-centromeric instability-facial anomalies syndrome 17Jan 4, 2022
Immunodeficiency-centromeric instability-facial anomalies syndrome 26Jan 4, 2022
Immunodeficiency-centromeric instability-facial anomalies syndrome 43Jan 4, 2022
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Jan 4, 2022
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1Jan 4, 2022
Intellectual developmental disorder with poor growth and with or without seizures or ataxia2Jan 4, 2022
Intellectual disability, X-linked 11Aug 5, 2019
Intellectual disability, X-linked syndromic, Turner type1Aug 5, 2019
Intellectual disability, autosomal dominant 561Aug 5, 2019
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Aug 5, 2019
Kabuki syndrome 135Jan 4, 2022
Kabuki syndrome 22Aug 5, 2019
Lafora disease1Jan 4, 2022
Landau-Kleffner syndrome1Jan 4, 2022
Lathosterolosis1Aug 5, 2019
Leber congenital amaurosis 124Dec 11, 2020
Leber congenital amaurosis 131Jan 4, 2022
Leber congenital amaurosis 54Aug 5, 2019
Leber congenital amaurosis 92Aug 5, 2019
Left ventricular noncompaction 115Jan 4, 2022
Legius syndrome6Apr 30, 2022
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Jan 4, 2022
Li-Fraumeni syndrome 11Feb 6, 2020
Lissencephaly 102Jan 4, 2022
Loeys-Dietz syndrome 48Apr 30, 2022
Long QT syndrome 1116Jan 4, 2022
Long QT syndrome 1213Jan 4, 2022
Lymphatic malformation 43Jan 4, 2022
MOGS-CDG5Apr 30, 2022
Majeed syndrome44Apr 30, 2022
Major affective disorder 71Aug 5, 2019
Maple syrup urine disease6Jan 4, 2022
Maturity-onset diabetes of the young type 112Jan 4, 2022
Maturity-onset diabetes of the young type 141Jan 4, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency85Apr 30, 2022
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1Apr 30, 2022
Melanoma, cutaneous malignant, susceptibility to, 31Jan 4, 2022
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1Aug 5, 2019
Methylmalonic acidemia with homocystinuria, type cblJ1Jan 4, 2022
Methylmalonic acidemia with homocystinuria, type cblX1Dec 11, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency5Apr 30, 2022
Methylmalonic aciduria, cblA type2Apr 30, 2022
Methylmalonic aciduria, cblB type2Apr 30, 2022
Microcephalic osteodysplastic primordial dwarfism type II70Apr 30, 2022
Microcephaly 3, primary, autosomal recessive1Aug 5, 2019
Microcephaly-capillary malformation syndrome2Jan 4, 2022
Mitochondrial DNA depletion syndrome 12Jan 4, 2022
Mitochondrial DNA depletion syndrome 131Aug 5, 2019
Mitochondrial DNA depletion syndrome 92Jan 4, 2022
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Jan 4, 2022
Mitochondrial complex 1 deficiency, nuclear type 101Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 111Jan 4, 2022
Mitochondrial complex 1 deficiency, nuclear type 152Jan 4, 2022
Mitochondrial complex 1 deficiency, nuclear type 162Jan 12, 2022
Mitochondrial complex 1 deficiency, nuclear type 54Jan 4, 2022
Mitochondrial complex 1 deficiency, nuclear type 63Jan 4, 2022
Mitochondrial complex 1 deficiency, nuclear type 72Jan 4, 2022
Mitochondrial complex 1 deficiency, nuclear type 81Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 91Jan 4, 2022
Mitochondrial complex 4 deficiency, nuclear type 31Jan 4, 2022
Mitochondrial complex III deficiency nuclear type 31Aug 5, 2019
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 12Aug 5, 2019
Moyamoya disease 21Aug 5, 2019
Mucopolysaccharidosis, MPS-IV-A1Jan 4, 2022
Multiple acyl-CoA dehydrogenase deficiency4Apr 30, 2022
Multiple endocrine neoplasia type 43Apr 30, 2022
Multiple endocrine neoplasia, type 111Aug 5, 2019
Myasthenic syndrome, congenital, 221Jan 4, 2022
Myoglobinuria, acute recurrent, autosomal recessive3Apr 30, 2022
Myopathy, lactic acidosis, and sideroblastic anemia 11Aug 5, 2019
NTHL1-related attenuated familial adenomatous polyposis2Jan 4, 2022
Neuroblastoma, susceptibility to, 315Apr 30, 2022
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Jan 4, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Jan 4, 2022
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1Jan 4, 2022
Neuronopathy, distal hereditary motor, type 2C2Aug 5, 2019
Neuropathy, hereditary sensory and autonomic, type 1A11Apr 30, 2022
Neuropathy, hereditary sensory and autonomic, type 1C8Apr 30, 2022
Neuropathy, hereditary sensory and autonomic, type 2B11Apr 30, 2022
Non-ketotic hyperglycinemia1Jan 4, 2022
Noonan syndrome58Jan 27, 2015
Noonan syndrome 81Jan 4, 2022
Noonan syndrome 912Apr 30, 2022
Noonan syndrome-like disorder with loose anagen hair 16Jan 4, 2022
Ornithine carbamoyltransferase deficiency7Jan 4, 2022
Osteogenesis imperfecta type 61Jan 4, 2022
Osteogenesis imperfecta type 713Apr 30, 2022
Osteogenesis imperfecta type 829Jan 4, 2022
Osteogenesis imperfecta type 94Apr 30, 2022
PGM1-CDG2Apr 30, 2022
Pancreatic insufficiency-anemia-hyperostosis syndrome1Aug 5, 2019
Pancytopenia due to IKZF1 mutations1Aug 5, 2019
Periventricular heterotopia with microcephaly, autosomal recessive1Aug 5, 2019
Periventricular nodular heterotopia 81Mar 9, 2022
Polycystic kidney disease 233Dec 11, 2020
Polycystic kidney disease, adult type313Dec 11, 2020
Pontocerebellar hypoplasia type 62Aug 5, 2019
Preeclampsia/eclampsia 51Aug 5, 2019
Primary ciliary dyskinesia 121Jan 4, 2022
Primary ciliary dyskinesia 132Apr 30, 2022
Primary ciliary dyskinesia 141Apr 30, 2022
Primary ciliary dyskinesia 152Apr 30, 2022
Primary ciliary dyskinesia 204Apr 30, 2022
Primary ciliary dyskinesia 221Apr 30, 2022
Primary ciliary dyskinesia 231Apr 30, 2022
Primary ciliary dyskinesia 241Apr 30, 2022
Primary ciliary dyskinesia 312Apr 30, 2022
Primary ciliary dyskinesia 303Apr 30, 2022
Primary ciliary dyskinesia 713Apr 30, 2022
Primary ciliary dyskinesia 91Apr 30, 2022
Primary intraosseous venous malformation2Apr 30, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11Sep 8, 2021
Progressive familial heart block type IB7Aug 5, 2019
Propionic acidemia4Jan 4, 2022
Pulmonary hypertension, primary, 210Jan 4, 2022
Pulmonary hypertension, primary, 44Dec 11, 2020
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome58Apr 30, 2022
Pyruvate carboxylase deficiency3Jan 4, 2022
Pyruvate dehydrogenase E2 deficiency2Aug 5, 2019
Pyruvate dehydrogenase E3 deficiency4Dec 11, 2020
Pyruvate dehydrogenase E3-binding protein deficiency4Jan 4, 2022
RFT1-CDG1Jan 4, 2022
RIDDLE syndrome4Apr 30, 2022
Renal carnitine transport defect27Apr 30, 2022
Renal cell carcinoma, Xp11-associated1Jan 4, 2022
Retinitis pigmentosa 114Jan 4, 2022
Retinitis pigmentosa 115Jan 4, 2022
Retinitis pigmentosa 1315Dec 11, 2020
Retinitis pigmentosa 171Aug 5, 2019
Retinitis pigmentosa 22Aug 5, 2019
Retinitis pigmentosa 2523Jan 12, 2022
Retinitis pigmentosa 262Aug 5, 2019
Retinitis pigmentosa 271Aug 5, 2019
Retinitis pigmentosa 282Aug 5, 2019
Retinitis pigmentosa 303Jan 4, 2022
Retinitis pigmentosa 313Jan 4, 2022
Retinitis pigmentosa 339Jan 4, 2022
Retinitis pigmentosa 388Dec 11, 2020
Retinitis pigmentosa 439Jan 4, 2022
Retinitis pigmentosa 441Aug 5, 2019
Retinitis pigmentosa 4515Jan 4, 2022
Retinitis pigmentosa 481Aug 5, 2019
Retinitis pigmentosa 493Jan 4, 2022
Retinitis pigmentosa 545Jan 4, 2022
Retinitis pigmentosa 622Jan 4, 2022
Retinitis pigmentosa 71Jan 4, 2022
Retinitis pigmentosa 91Jan 4, 2022
Rhizomelic chondrodysplasia punctata type 213Apr 30, 2022
Rhizomelic chondrodysplasia punctata type 312Jan 4, 2022
Rotor syndrome70Apr 30, 2022
Schaaf-Yang syndrome1Aug 5, 2019
Schneckenbecken dysplasia2Jan 4, 2022
Severe autosomal recessive muscular dystrophy of childhood - North African type8Jan 4, 2022
Severe combined immunodeficiency due to DNA-PKcs deficiency3Jan 4, 2022
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1Jan 15, 2020
Shprintzen-Goldberg syndrome30Apr 30, 2022
Smith-Lemli-Opitz syndrome26Jan 4, 2022
Snijders Blok-Campeau syndrome1Jan 4, 2022
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 13Jan 4, 2022
Sponastrime dysplasia1Jan 4, 2022
Spondylocostal dysostosis 1, autosomal recessive28Apr 30, 2022
Stuve-Wiedemann syndrome27Jan 12, 2022
Stüve-Wiedemann syndrome 12Apr 30, 2022
Succinyl-CoA acetoacetate transferase deficiency4Apr 30, 2022
Sulfite oxidase deficiency1Aug 5, 2019
Telangiectasia, hereditary hemorrhagic, type 176Apr 30, 2022
Telangiectasia, hereditary hemorrhagic, type 276Apr 30, 2022
Telangiectasia, hereditary hemorrhagic, type 59Jan 4, 2022
Thrombocytopenia 210Apr 30, 2022
Thrombocytopenia 41Aug 5, 2019
Transcobalamin II deficiency5Apr 30, 2022
Trichohepatoenteric syndrome 17Jan 4, 2022
Triosephosphate isomerase deficiency16Apr 30, 2022
Usher syndrome type 1G3Jan 4, 2022
Very long chain acyl-CoA dehydrogenase deficiency100Apr 30, 2022
Visceral heterotaxy 5, autosomal2Apr 30, 2022
Wagner syndrome1Jan 4, 2022
Wilson disease112Apr 30, 2022
X-linked Alport syndrome21Jan 4, 2022
X-linked Emery-Dreifuss muscular dystrophy2Jan 4, 2022
X-linked Opitz G/BBB syndrome1Aug 5, 2019
X-linked chondrodysplasia punctata 19Apr 30, 2022
X-linked intellectual disability Cabezas type1Aug 5, 2019
X-linked lymphoproliferative disease due to XIAP deficiency2Apr 30, 2022
X-linked mixed hearing loss with perilymphatic gusher4Apr 30, 2022
X-linked sideroblastic anemia with ataxia1Jan 4, 2022
Young adult-onset distal hereditary motor neuropathy2Jan 4, 2022
ZTTK syndrome1Jan 4, 2022
not provided9910Apr 30, 2022
not specified3142Feb 2, 2022

Testing in GTR

Disease nameNumber of tests
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
Abacavir hypersensitivity1 test
Achondrogenesis type II2 tests
Achondrogenesis, type IA2 tests
Achondrogenesis, type IB2 tests
Achondroplasia4 tests
Acromicric dysplasia1 test
Acute Recurrent Myoglobinuria1 test
Acyl-CoA dehydrogenase 9 deficiency1 test
Acyl-CoA oxidase deficiency1 test
Adams-Oliver syndrome 51 test
Adenomatous polyposis coli, attenuated1 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 neuropathy1 test
Allopurinol response1 test
Alpha trait thalassemia2 tests
Alpha-1-antitrypsin deficiency1 test
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha-thalassemia and related diseases2 tests
Alport syndrome1 test
Alzheimer disease2 tests
Amyloidogenic transthyretin amyloidosis2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome2 tests
Ankylosing spondylitis1 test
Antley-Bixler syndrome2 tests
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Ariboflavinosis1 test
Arterial tortuosity syndrome1 test
Ashkenazi Jewish disorders1 test
Asphyxiating thoracic dystrophy 22 tests
Asphyxiating thoracic dystrophy 32 tests
Asphyxiating thoracic dystrophy 42 tests
Ataxia-telangiectasia syndrome2 tests
Ataxia-telangiectasia-like disorder 11 test
Atelosteogenesis2 tests
Atrial fibrillation, familial, 71 test
Atrioventricular septal defect, partial, with heterotaxy syndrome1 test
Attenuated familial adenomatous polyposis1 test
Atypical Gaucher disease due to saposin C deficiency1 test
Autism spectrum disorder1 test
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant slowed nerve conduction velocity1 test
Autosomal recessive agammaglobulinemia 11 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
BAP1-related tumor predisposition syndrome2 tests
Bannayan-Riley-Ruvalcaba syndrome1 test
Becker muscular dystrophy4 tests
Beta-thalassemia and related diseases2 tests
Biotinidase deficiency1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Bloom syndrome2 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone mineral density quantitative trait locus 181 test
Breast-ovarian cancer, familial, susceptibility to, 32 tests
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Bronchiectasis with or without elevated sweat chloride 11 test
Brown-Vialetto-van Laere syndrome 11 test
Brown-Vialetto-van Laere syndrome 21 test
Bruck syndrome 21 test
Bupropion response3 tests
CBL-related disorder2 tests
CYP2C19-related poor drug metabolism2 tests
Camptomelic dysplasia2 tests
Capillary malformation-arteriovenous malformation syndrome3 tests
Carbamazepine hypersensitivity1 test
Carcinoma of colon1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiofaciocutaneous syndrome 11 test
Cardiomyopathy1 test
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 31 test
Carney-Stratakis syndrome1 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyltransferase II deficiency2 tests
Celiac disease1 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 11 test
Cerebral cavernous malformation 21 test
Cerebral cavernous malformation 31 test
Charcot-Marie-Tooth Neuropathy X1 test
Charcot-Marie-Tooth disease2 tests
Charcot-Marie-Tooth disease dominant intermediate B1 test
Charcot-Marie-Tooth disease type 21 test
Charcot-Marie-Tooth disease type 41 test
Charcot-Marie-Tooth disease, type I2 tests
Charcot-Marie-Tooth disease, type IA2 tests
Childhood hypophosphatasia1 test
Chondrodysplasia punctata2 tests
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic obstructive pulmonary disease1 test
Cleidocranial dysostosis2 tests
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 21 test
Colorectal cancer, hereditary nonpolyposis, type 51 test
Colorectal cancer, hereditary nonpolyposis, type 81 test
Combined immunodeficiency due to LRBA deficiency1 test
Combined malonic and methylmalonic acidemia1 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Common variable agammaglobulinemia1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital bile acid synthesis defect1 test
Congenital contractural arachnodactyly1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital hemolytic anemia1 test
Congenital malabsorptive diarrhea 41 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital vertical talus1 test
Costello syndrome1 test
Cowden syndrome1 test
Cowden syndrome 12 tests
Cranioectodermal dysplasia2 tests
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II2 tests
Curry-Hall syndrome2 tests
Cutis laxa, autosomal recessive, type 1B1 test
Cyclical neutropenia1 test
Cystic fibrosis5 tests
Czech dysplasia, metatarsal type2 tests
DRUG METABOLISM, ALTERED, CYP2C8-RELATED3 tests
Danon disease2 tests
Deafness-intellectual disability, Martin-Probst type syndrome1 test
Deafness-lymphedema-leukemia syndrome1 test
Debrisoquine, poor metabolism of3 tests
Debrisoquine, ultrarapid metabolism of3 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2 tests
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of cytochrome-b5 reductase2 tests
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1 test
Diastrophic dysplasia2 tests
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Disorder due cytochrome p450 CYP2C19 variant3 tests
Disorder due cytochrome p450 CYP2C9 variant2 tests
Disorder due cytochrome p450 CYP2D6 variant3 tests
Disorders of Intracellular Cobalamin Metabolism1 test
Distal arthrogryposis1 test
Drug metabolism or response3 tests
Duchenne muscular dystrophy4 tests
Ectodermal dysplasia and immunodeficiency 11 test
Ectodermal dysplasia and immunodeficiency 21 test
Efavirenz response1 test
Ehlers-Danlos syndrome, classic type, 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, type 41 test
Ellis-van Creveld syndrome2 tests
Emery-Dreifuss muscular dystrophy1 test
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
Epilepsy, progressive myoclonic 2b1 test
Epiphyseal dysplasia, multiple, 31 test
Erythrocyte Alloimmunization1 test
FGFR2-related bent bone dysplasia2 tests
Fabry disease1 test
Familial Mediterranean fever1 test
Familial Periodic Fever1 test
Familial adenomatous polyposis 13 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial cancer of breast2 tests
Familial cold autoinflammatory syndrome1 test
Familial cold autoinflammatory syndrome 31 test
Familial colorectal cancer2 tests
Familial dysautonomia3 tests
Familial hypercholesterolemia1 test
Familial medullary thyroid carcinoma1 test
Familial pulmonary capillary hemangiomatosis1 test
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
Fanconi-Bickel syndrome1 test
Fatty liver disease, nonalcoholic, susceptibility to, 21 test
Febrile seizures, familial, 11 test
Fentanyl response1 test
Fetal and neonatal alloimmune thrombocytopenia1 test
Fetal hemoglobin quantitative trait locus 12 tests
Fibrochondrogenesis 21 test
Fluorouracil response1 test
Fragile X syndrome3 tests
Fragile X-associated tremor/ataxia syndrome2 tests
Frontometaphyseal dysplasia 12 tests
Fructose-biphosphatase deficiency1 test
G6PD deficiency2 tests
Galactosemia3 tests
Gardner syndrome1 test
Gaucher disease2 tests
Gaucher disease perinatal lethal2 tests
Gaucher disease type I2 tests
Gaucher disease type II2 tests
Gaucher disease type III2 tests
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome2 tests
Geleophysic dysplasia 21 test
Generalized juvenile polyposis/juvenile polyposis coli1 test
Genetic cardiac rhythm disease1 test
Geroderma osteodysplastica1 test
Giant axonal neuropathy 11 test
Gilbert syndrome1 test
Glomuvenous malformation1 test
Glucose-6-phosphate transport defect1 test
Glutathione synthetase deficiency without 5-oxoprolinuria2 tests
Glycogen storage disease1 test
Glycogen storage disease IIIa1 test
Glycogen storage disease IIIb1 test
Glycogen storage disease IXa11 test
Glycogen storage disease IXa21 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease IXd1 test
Glycogen storage disease XV1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3 tests
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1 test
Glycogen storage disease due to muscle beta-enolase deficiency1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency3 tests
Glycogen storage disease type X1 test
Glycogen storage disease, type II2 tests
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V1 test
Glycogen storage disease, type VI1 test
Glycogen storage disease, type VII3 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
Gnathodiaphyseal dysplasia1 test
Gorlin syndrome1 test
Greenberg dysplasia2 tests
HNSHA due to aldolase A deficiency3 tests
HSD10 mitochondrial disease1 test
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED2 tests
Hb SS disease1 test
Heart, malformation of1 test
Heinz body anemia1 test
Hemochromatosis type 11 test
Hemoglobin H disease4 tests
Hemoglobin H disease, nondeletional1 test
Hemoglobinopathy1 test
Hemolytic anemia2 tests
Hemolytic anemia due to adenylate kinase deficiency2 tests
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction2 tests
Hemolytic anemia due to glucophosphate isomerase deficiency2 tests
Hemolytic anemia due to hexokinase deficiency2 tests
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency2 tests
Hemolytic disease of fetus OR newborn due to isoimmunization5 tests
Hemophilia1 test
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hepatic methionine adenosyltransferase deficiency1 test
Hereditary breast ovarian cancer syndrome3 tests
Hereditary cancer-predisposing syndrome2 tests
Hereditary diffuse gastric adenocarcinoma3 tests
Hereditary disease3 tests
Hereditary elliptocytosis2 tests
Hereditary factor VIII deficiency disease4 tests
Hereditary fructosuria1 test
Hereditary hemorrhagic telangiectasia2 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary intrinsic factor deficiency1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies2 tests
Hereditary lymphedema type I1 test
Hereditary motor and sensory neuropathy1 test
Hereditary nonpolyposis colon cancer1 test
Hereditary pancreatitis1 test
Hereditary pheochromocytoma-paraganglioma4 tests
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary sensory and autonomic neuropathy type 21 test
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia1 test
Hereditary spherocytosis2 tests
Holoprosencephaly 112 tests
Holoprosencephaly 22 tests
Holoprosencephaly 32 tests
Holoprosencephaly 42 tests
Holoprosencephaly 52 tests
Holoprosencephaly 71 test
Holoprosencephaly 92 tests
Holoprosencephaly sequence1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Huntington disease1 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
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperlipoproteinemia1 test
Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria1 test
Hypertrophic cardiomyopathy 11 test
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 21 test
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 41 test
Hypertrophic cardiomyopathy 62 tests
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypochondrogenesis2 tests
Hypochondroplasia2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
Hypophosphatasia3 tests
Hypophosphatemic rickets, X-linked recessive1 test
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Imerslund-Grasbeck syndrome1 test
Imerslund-Grasbeck syndrome type 21 test
Immunodeficiency 1041 test
Immunodeficiency 141 test
Immunodeficiency, common variable, 11 test
Immunodeficiency, common variable, 101 test
Immunodeficiency, common variable, 21 test
Immunodeficiency, common variable, 31 test
Immunodeficiency, common variable, 41 test
Immunodeficiency, common variable, 51 test
Immunodeficiency, common variable, 61 test
Immunodeficiency, common variable, 71 test
Immunoglobulin A deficiency 21 test
Infantile hypophosphatasia1 test
Intellectual disability1 test
Irinotecan response1 test
Isolated ectopia lentis1 test
Jeune thoracic dystrophy2 tests
Joubert syndrome 22 tests
Juvenile polyposis syndrome1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
Ketoacidosis due to monocarboxylate transporter-1 deficiency1 test
Kniest dysplasia2 tests
Larsen syndrome2 tests
Left ventricular noncompaction1 test
Legius syndrome2 tests
Lethal Kniest-like syndrome2 tests
Lethal congenital glycogen storage disease of heart1 test
Li-Fraumeni syndrome4 tests
Loeys-Dietz syndrome2 tests
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
Long QT syndrome1 test
Long QT syndrome 161 test
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Lymphatic malformation 41 test
Lymphatic malformation 61 test
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
Lynch syndrome4 tests
MASS syndrome1 test
MTHFR THERMOLABILE POLYMORPHISM2 tests
MUTYH-related attenuated familial adenomatous polyposis4 tests
Majeed syndrome1 test
Malignant hyperthermia of anesthesia1 test
Maple syrup urine disease type 1B2 tests
Marfan syndrome2 tests
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
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
Medium chain 3-ketoacyl-Coa thiolase deficiency1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Medulloblastoma1 test
Meester-Loeys syndrome1 test
Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Melanoma1 test
Metabolic myopathy due to lactate transporter defect1 test
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome2 tests
Metatropic dysplasia2 tests
Methadone response1 test
Methemoglobinemia, type I2 tests
Methylcobalamin deficiency type cblE1 test
Methylcobalamin deficiency type cblG1 test
Methylmalonic acidemia1 test
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
Methylmalonic acidemia due to transcobalamin receptor defect1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic aciduria and homocystinuria type cblD1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria, cblA type1 test
Methylmalonic aciduria, cblB type1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Microcephaly-capillary malformation syndrome1 test
Mild hemophilia A1 test
Mitchell syndrome1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1 test
Mitochondrial trifunctional protein deficiency1 test
Moderately severe hemophilia A1 test
Morphine response1 test
Mucolipidosis type IV2 tests
Muir-Torré syndrome1 test
Multiple acyl-CoA dehydrogenase deficiency1 test
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 13 tests
Multiple endocrine neoplasia, type 21 test
Multiple fibrofolliculomas2 tests
Myelodysplastic syndrome1 test
Myocardial infarction 11 test
Myopathy with abnormal lipid metabolism1 test
Myotonic dystrophy1 test
NAFLD11 test
Narcolepsy 11 test
Nemaline myopathy 22 tests
Neonatal diabetes mellitus1 test
Nephronophthisis1 test
Neuroblastoma1 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neuronopathy, distal hereditary motor1 test
Neuropathy, hereditary sensory, type 1D1 test
Neutropenia, severe congenital, 1, autosomal dominant1 test
Nevirapine response1 test
Niemann-Pick disease, type A2 tests
Noonan syndrome1 test
Noonan syndrome with multiple lentigines1 test
Noonan syndrome-like disorder with loose anagen hair 11 test
OSTEOGENESIS IMPERFECTA, TYPE IIC1 test
Optic atrophy1 test
Osteogenesis imperfecta3 tests
Osteogenesis imperfecta type 1, mild1 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 161 test
Osteogenesis imperfecta type 171 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 61 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
Osteoglophonic dysplasia2 tests
Osteoporosis with pseudoglioma1 test
PCWH syndrome1 test
PGM1-CDG1 test
PTEN hamartoma tumor syndrome4 tests
Pallister-Hall syndrome1 test
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1 test
Parastremmatic dwarfism2 tests
Parkes Weber syndrome2 tests
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Perrault syndrome1 test
Perry syndrome1 test
Peutz-Jeghers syndrome3 tests
Pheochromocytoma1 test
Phytanic acid storage disease1 test
Platyspondylic dysplasia, Torrance type2 tests
Polyglucosan body myopathy1 test
Polyglucosan body myopathy type 11 test
Prader-Willi syndrome2 tests
Primary ciliary dyskinesia2 tests
Primary dilated cardiomyopathy1 test
Primary familial hypertrophic cardiomyopathy1 test
Primary hyperoxaluria1 test
Primary intraosseous venous malformation1 test
Primary pulmonary hypertension2 tests
Prion disease1 test
Propionic acidemia1 test
Proteus syndrome2 tests
Proteus-like syndrome1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia1 test
Pulmonary hypertension, primary, 22 tests
Pulmonary hypertension, primary, 31 test
Pulmonary hypertension, primary, 42 tests
Pulmonary venoocclusive disease1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyropoikilocytosis, hereditary2 tests
Pyruvate dehydrogenase E3 deficiency2 tests
Pyruvate kinase deficiency of red cells2 tests
Qualitative or quantitative defects of dystrophin4 tests
RASopathy1 test
Renal carnitine transport defect1 test
Renal cell carcinoma, papillary, 12 tests
Retinal dystrophy with leukodystrophy1 test
Retinitis pigmentosa with or without situs inversus1 test
Retinoblastoma1 test
Rhabdoid tumor predisposition syndrome 11 test
Rhizomelic chondrodysplasia punctata3 tests
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
Rhizomelic chondrodysplasia punctata type 51 test
Rotor syndrome2 tests
Schneckenbecken dysplasia2 tests
Schwartz-Jampel syndrome2 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1 test
Severe hemophilia A1 test
Sex-linked hereditary disorder1 test
Short QT syndrome1 test
Short stature due to partial GHR deficiency1 test
Short-rib thoracic dysplasia 6 with or without polydactyly2 tests
Shprintzen-Goldberg syndrome2 tests
Silver-Russell syndrome 11 test
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Skeletal dysplasia2 tests
Spermatogenic failure, Y-linked, 21 test
Spinal muscular atrophy4 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
Spondylocarpotarsal synostosis syndrome2 tests
Spondylocostal dysostosis2 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
Sterol carrier protein 2 deficiency1 test
Stevens-Johnson syndrome1 test
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap 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 syndrome1 test
Stuve-Wiedemann syndrome2 tests
Succinyl-CoA acetoacetate transferase deficiency1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tay-Sachs disease4 tests
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 52 tests
Terminal osseous dysplasia-pigmentary defects syndrome2 tests
Thanatophoric dysplasia type 14 tests
Thanatophoric dysplasia, type 24 tests
Thiopurine response1 test
Thrombophilia2 tests
Thrombophilia due to activated protein C resistance4 tests
Thrombophilia due to thrombin defect4 tests
Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
Transcobalamin II deficiency1 test
Transcription level of plasminogen activator inhibitor 11 test
Triosephosphate isomerase deficiency2 tests
Tuberous sclerosis 14 tests
Tuberous sclerosis 24 tests
Tuberous sclerosis syndrome3 tests
Turcot syndrome1 test
Type II Collagenopathies2 tests
Usher syndrome type 1F2 tests
Usher syndrome type 32 tests
Van Maldergem syndrome 21 test
Very long chain acyl-CoA dehydrogenase deficiency2 tests
Visceral heterotaxy1 test
Vitamin D-dependent rickets, type 1A1 test
Von Hippel-Lindau syndrome2 tests
Wagner syndrome1 test
Warfarin response1 test
Weill-Marchesani syndrome 2, dominant1 test
Wilson disease1 test
Wolff-Parkinson-White pattern1 test
X-linked agammaglobulinemia1 test
X-linked distal spinal muscular atrophy type 31 test
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked lymphoproliferative disease due to XIAP deficiency1 test
Xerocytosis1 test
Zellweger spectrum disorders1 test
alpha Thalassemia3 tests
beta Thalassemia2 tests
chronic recurrent pancreatitis1 test
von Willebrand disorder1 test
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