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ARUP Laboratories, Molecular Genetics and Genomics (ARUP Laboratories), ARUP

General information

ARUP Laboratories, Molecular Genetics and Genomics, ARUP
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: 21694

Gene

GeneSubmissionsLast Updated
A2M1Jan 24, 2024
AARS125Jan 24, 2024
ABCA22Jan 4, 2022
ABCA446Jan 24, 2024
ABCB61Dec 11, 2020
ABCB72Jan 24, 2024
ABCC811Jan 24, 2024
ABCC929Jan 24, 2024
ABCD135Jan 4, 2022
ABCD31Jan 24, 2024
ABCD46Jan 24, 2024
ABLIM31Jan 24, 2024
ACACA1Aug 5, 2019
ACACB2Jan 6, 2023
ACAD95Jan 24, 2024
ACADL3Jan 24, 2024
ACADM90Jan 24, 2024
ACADS5Jan 24, 2024
ACADVL139Jan 24, 2024
ACAT14Jan 24, 2024
ACD1Dec 11, 2020
ACOX32Dec 11, 2020
ACSF38Jan 24, 2024
ACTA11Aug 5, 2019
ACTA28Jan 24, 2024
ACTA2-AS11Jan 4, 2022
ACTC13Jan 24, 2024
ACTG17Jan 24, 2024
ACTN212Jan 24, 2024
ACVRL1118Jan 24, 2024
ADA10Jan 24, 2024
ADA25Jan 24, 2024
ADAMTSL11Dec 11, 2020
ADGRV163Jan 24, 2024
ADK2Jan 24, 2024
AFF21Jan 6, 2023
AFF41Jan 4, 2022
AFG3L21Jan 24, 2024
AGL18Jan 24, 2024
AGPS12Jan 24, 2024
AHNAK21Dec 11, 2020
AICDA4Jan 6, 2023
AIFM15Jan 24, 2024
AIPL19Jan 24, 2024
AK114Jan 24, 2024
AKAP937Jan 24, 2024
AKT14Jan 24, 2024
ALDH3A21Jan 6, 2023
ALDOA12Jan 24, 2024
ALDOB1Jan 6, 2023
ALG112Jan 6, 2023
ALK21Jan 24, 2024
ALMS19Jan 24, 2024
ALPK314Jan 24, 2024
ALPL27Jan 24, 2024
ALS25Jan 24, 2024
AMACR1Jan 4, 2022
AMN6Jan 24, 2024
AMT1Jan 4, 2022
ANAPC151Jan 24, 2024
ANK1135Jan 24, 2024
ANK268Jan 24, 2024
ANKRD18Jan 24, 2024
ANKRD241Jan 4, 2022
ANKRD2610Jan 24, 2024
ANKS63Jan 6, 2023
ANO54Jan 24, 2024
AOPEP1Jun 30, 2017
APC118Jan 24, 2024
APOB48Jan 24, 2024
APP1Jan 6, 2023
APPL14Jan 24, 2024
APTX5Jan 24, 2024
ARCN11Jan 15, 2020
ARF11Mar 9, 2022
ARFGEF21Aug 5, 2019
ARHGAP271Dec 11, 2020
ARHGAP41Jan 24, 2024
ARHGEF1014Jan 24, 2024
ARL6IP61Dec 11, 2020
ARSL14Jan 24, 2024
ASAH11Jan 6, 2023
ASB111Dec 11, 2020
ASB141Jan 24, 2024
ASB161Dec 11, 2020
ASB16-AS11Dec 11, 2020
ASS118Jan 24, 2024
ASTE11Jan 24, 2024
ATAD11Jan 6, 2023
ATF7IP21Dec 11, 2020
ATL16Jan 24, 2024
ATM116Jan 24, 2024
ATP13A21Dec 11, 2020
ATP7A16Jan 24, 2024
ATP7B152Jan 24, 2024
ATP8A21Dec 11, 2020
ATPAF25Jan 24, 2024
ATR22Jan 24, 2024
ATRX3Jan 24, 2024
ATXN7L3-AS11Jan 4, 2022
AXIN225Jan 24, 2024
B3GALT11Dec 11, 2020
B3GALT1-AS11Dec 11, 2020
B3GALT61Dec 11, 2020
BAG324Jan 24, 2024
BAP18Jan 24, 2024
BARD121Jan 24, 2024
BCAR32Dec 11, 2020
BCHE2Jan 24, 2024
BCKDHA4Jan 24, 2024
BCKDHB1Oct 10, 2018
BCS1L1Jan 24, 2024
BEST17Jan 24, 2024
BGN2Jan 6, 2023
BICD217Jan 24, 2024
BLK8Jan 24, 2024
BLM8Jan 24, 2024
BLNK7Jan 24, 2024
BMPR1A12Jan 24, 2024
BMPR242Jan 24, 2024
BPTF1Jan 4, 2022
BRAF11Jan 24, 2024
BRAT11Jan 4, 2022
BRCA1265Jan 24, 2024
BRCA2463Jan 24, 2024
BRIP133Jan 24, 2024
BSCL28Jan 6, 2023
BTD23Jan 24, 2024
BTK10Jan 24, 2024
C10orf1054Jan 24, 2024
C11orf6537Jan 24, 2024
C1QTNF3-AMACR1Jan 4, 2022
C3orf801Jan 24, 2024
C63Jan 24, 2024
C71Jan 24, 2024
CA44Aug 5, 2019
CACNA1A3Dec 11, 2020
CACNA1C53Jan 24, 2024
CACNA1C-AS124Jan 24, 2024
CACNA1C-AS21Dec 11, 2020
CACNA1S11Jan 24, 2024
CACNB216Jan 24, 2024
CAMK2D1Aug 5, 2019
CANT17Jan 24, 2024
CARD119Jan 24, 2024
CARD11-AS11Dec 11, 2020
CARD142Dec 11, 2020
CASK1Oct 10, 2018
CASQ29Jan 24, 2024
CASR1Jan 6, 2023
CAV17Jan 24, 2024
CAV37Jan 24, 2024
CBL17Jan 24, 2024
CBLIF5Jan 24, 2024
CBS42Jan 24, 2024
CC2D1A2Jan 6, 2023
CCBE15Jan 24, 2024
CCDC1701Dec 11, 2020
CCDC394Jan 24, 2024
CCDC405Jan 24, 2024
CCDC502Oct 10, 2018
CCDC621Jan 6, 2023
CCDC652Jan 24, 2024
CCM215Jan 24, 2024
CCNH30Jan 6, 2023
CCT58Jan 24, 2024
CD1910Jan 24, 2024
CD3201Jun 30, 2017
CD408Jan 24, 2024
CD40LG7Jan 24, 2024
CD79A2Jan 24, 2024
CD812Jan 24, 2024
CDAN168Jan 24, 2024
CDH145Jan 24, 2024
CDH2345Jan 24, 2024
CDH23-AS12Jan 24, 2024
CDHR19Jan 24, 2024
CDK201Dec 11, 2020
CDK41Jan 4, 2022
CDK5RAP21Aug 5, 2019
CDKN1B4Jan 24, 2024
CDKN2A6Jan 24, 2024
CDON8Jan 24, 2024
CEACAM167Jan 24, 2024
CEACAM16-AS17Jan 24, 2024
CEBPA2Jan 4, 2022
CEL2Jan 24, 2024
CEP29021Jan 24, 2024
CEP85L4Jan 24, 2024
CERKL3Jan 6, 2023
CFAP2981Dec 11, 2020
CFAP298-TCP10L1Dec 11, 2020
CFAP4183Jan 24, 2024
CFAP418-AS11Jan 24, 2024
CFAP471Dec 11, 2020
CFAP531Dec 11, 2020
CFAP921Oct 10, 2018
CFTR375Jan 24, 2024
CFTR-AS145Jan 24, 2024
CHD21Jan 6, 2023
CHD31Jan 4, 2022
CHD61Dec 11, 2020
CHD732Dec 11, 2020
CHD81Aug 5, 2019
CHEK220Jan 24, 2024
CHM2Jan 24, 2024
CHRNA41Dec 11, 2020
CHRNA91Dec 11, 2020
CHRNG1Oct 10, 2018
CHST141Jan 4, 2022
CHUK1Aug 5, 2019
CILK112Jan 24, 2024
CLDN142Jan 24, 2024
CLDN14-AS12Jan 24, 2024
CLDN21Dec 11, 2020
CLK11Jan 4, 2022
CLN62Jan 24, 2024
CLRN12Aug 5, 2019
CLRN1-AS11Aug 5, 2019
CLTC1Aug 5, 2019
CNGA13Jan 24, 2024
CNGB119Jan 24, 2024
CNTNAP11Jan 6, 2023
COCH6Jan 24, 2024
COG21Jan 24, 2024
COL11A221Jan 24, 2024
COL12A12Jan 6, 2023
COL1A192Jan 24, 2024
COL1A263Jan 24, 2024
COL25A11Jan 4, 2022
COL2A181Jan 24, 2024
COL3A164Jan 24, 2024
COL4A11Aug 5, 2019
COL4A310Jan 24, 2024
COL4A42Jan 6, 2023
COL4A528Jan 24, 2024
COL5A1119Jan 24, 2024
COL5A266Jan 24, 2024
COL6A11Dec 11, 2020
COL6A25Jan 4, 2022
COL6A51Jan 24, 2024
COL8A11Dec 11, 2020
COL9A11Dec 11, 2020
COL9A22Jan 24, 2024
COL9A35Jan 24, 2024
COMP19Jan 24, 2024
COQ24Jan 24, 2024
COQ8A6Jan 24, 2024
COQ94Jan 24, 2024
CORIN5Aug 5, 2019
COX103Jan 24, 2024
COX153Aug 5, 2019
COX4I22Jan 6, 2023
CPSF31Jan 4, 2022
CPT1A15Jan 24, 2024
CPT212Jan 24, 2024
CPZ1Jan 4, 2022
CR12Jan 24, 2024
CR218Jan 24, 2024
CRB113Jan 24, 2024
CREB3L12Jan 24, 2024
CRIPTO1Oct 10, 2018
CRTAP16Jan 24, 2024
CRX4Jan 24, 2024
CRYAB3Jan 24, 2024
CRYM1Oct 10, 2018
CSRP38Jan 24, 2024
CTC111Jun 30, 2017
CTCF1Aug 5, 2019
CTF12Aug 5, 2019
CTLA41Aug 5, 2019
CTNS2Jan 24, 2024
CTRC79Jan 24, 2024
CTSE1Jan 6, 2023
CUBN42Jan 24, 2024
CUL4B1Aug 5, 2019
CXCR42Jan 4, 2022
CYB5R322Jan 24, 2024
CYBB2Dec 11, 2020
CYCS1Jan 24, 2024
CYGB1Oct 10, 2018
CYLD-AS12Jan 24, 2024
DARS22Jan 24, 2024
DBNL1Jan 24, 2024
DBT6Jan 24, 2024
DCHS13Dec 11, 2020
DCLRE1C12Jan 24, 2024
DCP21Dec 11, 2020
DCTN121Jan 24, 2024
DDOST2Jan 24, 2024
DDR215Jan 24, 2024
DDX413Apr 30, 2022
DDX521Dec 11, 2020
DEAF11Dec 11, 2020
DEPDC51Jan 6, 2023
DES13Jan 24, 2024
DGUOK3Jan 24, 2024
DHCR732Jan 6, 2023
DHFR9Jan 24, 2024
DHRS4L11Dec 11, 2020
DHTKD124Jan 24, 2024
DIAPH12Jan 24, 2024
DICER141Jan 24, 2024
DIPK1A1Jun 30, 2017
DISP118Jan 24, 2024
DKC11Jun 30, 2017
DLAT4Jan 24, 2024
DLD5Jan 24, 2024
DLG44Jan 24, 2024
DLL331Jan 24, 2024
DMD176Jan 24, 2024
DNAAF17Jan 24, 2024
DNAAF114Jan 24, 2024
DNAAF22Jan 6, 2023
DNAAF41Jan 6, 2023
DNAAF4-CCPG11Jan 6, 2023
DNAAF52Jan 6, 2023
DNAH134Jan 24, 2024
DNAH1127Jan 24, 2024
DNAH518Jan 24, 2024
DNAI12Jan 24, 2024
DNAI21Jan 24, 2024
DNAJB24Jan 6, 2023
DNAL11Jan 24, 2024
DNASE11Dec 11, 2020
DNM1L3Jan 24, 2024
DNM220Jan 24, 2024
DNMT137Jan 24, 2024
DNMT3B8Jan 24, 2024
DPYSL51Jan 4, 2022
DRC16Jan 24, 2024
DRD21Dec 11, 2020
DRP21Dec 11, 2020
DSC213Jan 24, 2024
DSCAS1Aug 5, 2019
DSG227Jan 24, 2024
DSG2-AS18Jan 24, 2024
DSP64Jan 24, 2024
DSP-AS12Jan 24, 2024
DSPP11Jan 24, 2024
DTNA15Jan 24, 2024
DUSP294Jan 24, 2024
DVL21Dec 11, 2020
DYNC1H144Jan 24, 2024
DYNC2H1131Jan 24, 2024
DYSF1Dec 11, 2020
EAPP1Dec 11, 2020
EBP7Jan 24, 2024
ECEL12Jan 6, 2023
ECHS12Jan 6, 2023
EDA3Jan 24, 2024
EDAR2Jan 24, 2024
EDARADD4Jan 24, 2024
EFCC11Jan 24, 2024
EFEMP219Jan 24, 2024
EFHC12Dec 11, 2020
EGR28Jan 4, 2022
EHBP1L12Jan 4, 2022
EIF2AK31Jan 24, 2024
EIF2AK447Jan 24, 2024
ELAC21Dec 11, 2020
ELANE19Jan 24, 2024
ELMO22Jan 24, 2024
ELMO31Jan 6, 2023
ELP129Jan 24, 2024
EMD4Jan 4, 2022
EML61Dec 11, 2020
ENG132Jan 24, 2024
ENO35Jan 24, 2024
EPB4123Jan 24, 2024
EPB4232Jan 24, 2024
EPHB442Jan 24, 2024
EPM2A1Jan 4, 2022
EPM2A-DT1Jan 4, 2022
EPPK11Dec 11, 2020
ERCC63Dec 11, 2020
ERMARD1Dec 11, 2020
ESPN10Jan 24, 2024
ESRRB5Jan 24, 2024
ETFA3Jan 24, 2024
ETFB2Oct 10, 2018
ETFDH5Jan 24, 2024
ETHE11Jan 24, 2024
ETV61Jan 24, 2024
EVC51Jan 24, 2024
EVC269Jan 24, 2024
EVI2A1Jan 6, 2023
EXD31Aug 5, 2019
EXT21Dec 11, 2020
EYA410Jan 24, 2024
EYS24Jan 24, 2024
F111Dec 11, 2020
F8256Jan 24, 2024
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 24, 2024
FANCL3Jun 30, 2017
FANCM8Jun 30, 2017
FARS21Dec 11, 2020
FASN1Jan 4, 2022
FASTKD21Oct 10, 2018
FAT422Jan 24, 2024
FBLN511Jan 24, 2024
FBN1231Jan 24, 2024
FBN2136Jan 24, 2024
FBN32Jan 4, 2022
FBXL41Jan 24, 2024
FBXO411Aug 5, 2019
FGD410Jan 24, 2024
FGF82Jan 24, 2024
FGFR120Jan 24, 2024
FGFR221Jan 24, 2024
FGFR352Jan 24, 2024
FH11Jan 24, 2024
FHL15Jan 24, 2024
FIG416Jan 24, 2024
FKBP1026Jan 24, 2024
FKRP14Jan 24, 2024
FKTN13Jan 24, 2024
FLCN28Jan 24, 2024
FLNA130Jan 24, 2024
FLNB95Jan 24, 2024
FLNB-AS13Dec 11, 2020
FLNC14Jan 24, 2024
FLNC-AS13Jan 24, 2024
FLT420Jan 24, 2024
FNBP1L1Dec 11, 2020
FOXC25Jan 4, 2022
FOXC2-AS12Dec 11, 2020
FOXE32Jan 24, 2024
FOXH15Jan 24, 2024
FOXL31Jan 4, 2022
FOXN12Jun 30, 2017
FOXO41Dec 11, 2020
FOXP32Jan 24, 2024
FPGT-TNNI3K1Jan 24, 2024
FSCN24Jan 24, 2024
FTH11Jan 24, 2024
FXN5Jan 24, 2024
G6PC13Jan 6, 2023
G6PD63Jan 24, 2024
GAA40Jan 24, 2024
GABBR21Dec 11, 2020
GABRA31Dec 11, 2020
GAL3ST31Dec 11, 2020
GAL3ST41Dec 11, 2020
GALC1Jun 30, 2017
GALNS1Jan 24, 2024
GALT53Jan 24, 2024
GAMT3Jan 4, 2022
GAN8Jan 24, 2024
GAREM26Jan 24, 2024
GARS115Jan 24, 2024
GAS82Jan 24, 2024
GATA28Jan 24, 2024
GATA45Jan 24, 2024
GATA63Jan 24, 2024
GATAD13Jan 24, 2024
GATM2Dec 11, 2020
GBA110Jan 24, 2024
GBE14Jan 24, 2024
GCK4Jan 6, 2023
GCLC32Jan 24, 2024
GCLC-AS112Jan 24, 2024
GDAP15Jan 24, 2024
GDF212Jan 24, 2024
GDF57Jan 6, 2023
GDF5-AS13Jan 6, 2023
GFM16Jan 24, 2024
GH-LCR2Jan 6, 2023
GIPC31Aug 5, 2019
GJB110Jan 4, 2022
GJB263Jan 24, 2024
GJB38Jan 24, 2024
GJB61Jan 24, 2024
GJC26Jan 24, 2024
GJD2-DT3Jan 24, 2024
GLA6Jan 24, 2024
GLB11Jan 24, 2024
GLI222Jan 24, 2024
GLI39Jan 24, 2024
GLMN10Jan 24, 2024
GLRA11Jan 4, 2022
GNB43Jan 24, 2024
GNPAT20Jan 24, 2024
GNPTAB1Jan 24, 2024
GORAB1Jan 4, 2022
GP1BA3Jan 4, 2022
GP61Oct 10, 2018
GPD1L4Jan 24, 2024
GPHN1Jan 24, 2024
GPI24Jan 24, 2024
GPR191Jan 24, 2024
GPSM26Jan 24, 2024
GRHL22Jan 24, 2024
GRIN2A1Jan 4, 2022
GSDME3Jan 24, 2024
GSR25Jan 24, 2024
GSS16Jan 24, 2024
GUCA1B1Aug 5, 2019
GUCY2D16Jan 24, 2024
GUSB1Oct 10, 2018
GYG11Jan 6, 2023
GYS14Jan 24, 2024
GYS24Jan 24, 2024
HACL11Oct 10, 2018
HADH2Jan 6, 2023
HADHA7Jan 24, 2024
HADHB1Jan 24, 2024
HARS113Jan 24, 2024
HARS21Oct 10, 2018
HBA173Jan 24, 2024
HBA297Jan 24, 2024
HBB219Jan 24, 2024
HBG113Jan 24, 2024
HBG29Jan 24, 2024
HCFC17Jan 24, 2024
HCN42Jan 24, 2024
HDAC41Dec 11, 2020
HELLS4Jan 24, 2024
HERC11Jan 6, 2023
HEXA23Jan 24, 2024
HEXIM21Dec 11, 2020
HFE1Jan 6, 2023
HGSNAT1Jan 24, 2024
HINT12Jan 6, 2023
HK146Jan 24, 2024
HMGCS25Jan 24, 2024
HNF1A7Jan 24, 2024
HNF1B3Jan 24, 2024
HNRNPUL2-BSCL28Jan 6, 2023
HOXD107Jan 24, 2024
HRAS6Jan 24, 2024
HRC1Jan 6, 2023
HSALR1116Jan 24, 2024
HSD17B410Jan 24, 2024
HSPB18Jan 24, 2024
HSPB33Aug 5, 2019
HSPB87Jan 24, 2024
HSPD11Jan 24, 2024
HSPG2224Jan 24, 2024
HTR2B1Oct 10, 2018
HUWE11Aug 5, 2019
ICAM51Dec 11, 2020
ICOS5Jan 24, 2024
IDH3B1Oct 10, 2018
IDUA2Jan 24, 2024
IFIH11Dec 11, 2020
IFNAR21Dec 11, 2020
IFNAR2-IL10RB1Dec 11, 2020
IFNG1Jan 4, 2022
IFT8017Jan 24, 2024
IGH5Jan 6, 2023
IGHM5Jan 6, 2023
IGHMBP242Jan 24, 2024
IGLL114Jan 24, 2024
IKBKG8Jan 6, 2023
IKZF12Jan 6, 2023
IL21R7Jan 24, 2024
IL21R-AS12Dec 11, 2020
IL7R1Jan 4, 2022
ILF31Dec 11, 2020
ILK3Aug 5, 2019
IMPDH14Aug 5, 2019
IMPG23Dec 11, 2020
INF248Jan 24, 2024
INO807Jan 24, 2024
INO80-AS11Dec 11, 2020
INPPL11Jan 6, 2023
INSR36Jan 4, 2022
INSRR1Jan 6, 2023
IPP1Aug 5, 2019
IQSEC21Aug 5, 2019
IRF2BP25Jan 24, 2024
ISCU1Oct 10, 2018
IVD1Jan 6, 2023
JAG11Aug 5, 2019
JAK31Jan 24, 2024
JPH212Jan 24, 2024
JUP24Jan 24, 2024
KARS114Jan 24, 2024
KAT2B1Dec 11, 2020
KAT6B9Jan 24, 2024
KAZALD11Jan 4, 2022
KCNA511Jan 24, 2024
KCNE17Jan 24, 2024
KCNE25Jan 24, 2024
KCNE33Jan 24, 2024
KCNH238Jan 24, 2024
KCNJ113Jan 24, 2024
KCNJ29Jan 24, 2024
KCNK35Jan 24, 2024
KCNQ131Jan 24, 2024
KCNQ1-AS17Jan 24, 2024
KCNQ1OT12Jan 24, 2024
KCNQ23Dec 11, 2020
KCNQ31Jan 6, 2023
KCNQ42Jan 24, 2024
KCNT12Dec 11, 2020
KCP2Dec 11, 2020
KDM4B2Jan 6, 2023
KDM6A3Jan 6, 2023
KIAA07532Jun 30, 2017
KIAA12172Jan 24, 2024
KIF1A51Jan 24, 2024
KIF1B27Jan 24, 2024
KIF5A25Jan 24, 2024
KIT1Jan 6, 2023
KIZ3Jan 24, 2024
KLHL31Oct 10, 2018
KLHL71Jan 24, 2024
KLK141Jan 6, 2023
KLLN4Jan 24, 2024
KLRG11Jan 24, 2024
KMT2D39Jan 24, 2024
KPNB1-DT1Jan 4, 2022
KRAS8Jan 24, 2024
KRIT117Jan 24, 2024
L1CAM1Jan 4, 2022
L3MBTL11Jan 6, 2023
LAMA439Jan 24, 2024
LAMA4-AS11Jan 24, 2024
LAMP25Jan 24, 2024
LARGE11Jan 4, 2022
LARS28Jan 24, 2024
LARS2-AS12Jan 6, 2023
LAS1L2Jan 6, 2023
LBR21Jan 24, 2024
LCA54Jan 24, 2024
LDB334Jan 24, 2024
LDLR20Jan 24, 2024
LDLR-AS11Jan 24, 2024
LDLRAD216Jan 24, 2024
LDLRAP14Jan 24, 2024
LIFR34Jan 24, 2024
LIFR-AS11Aug 5, 2019
LIG41Jan 24, 2024
LINC006309Jan 6, 2023
LINC013892Jan 24, 2024
LIPT21Jan 24, 2024
LITAF4Jan 24, 2024
LMBRD11Oct 10, 2018
LMNA32Jan 24, 2024
LOC1002879441Jan 6, 2023
LOC1005060716Jan 24, 2024
LOC1005073462Jan 24, 2024
LOC10144820222Jan 24, 2024
LOC10192705511Jan 24, 2024
LOC1019271573Jan 24, 2024
LOC10192800811Jan 24, 2024
LOC1019293051Jan 24, 2024
LOC1027234391Jan 24, 2024
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LOC1053691493Jan 24, 2024
LOC10537156632Jan 24, 2024
LOC1053717951Dec 11, 2020
LOC1053727915Jan 24, 2024
LOC1053783112Dec 11, 2020
LOC106099062150Jan 24, 2024
LOC1060990646Jan 6, 2023
LOC1060990656Jan 24, 2024
LOC1066279819Jan 24, 2024
LOC10680461296Jan 24, 2024
LOC10680461370Jan 24, 2024
LOC1070805551Dec 11, 2020
LOC107133510221Jan 24, 2024
LOC1071812882Apr 30, 2022
LOC10730333815Jun 30, 2017
LOC1073033407Dec 11, 2020
LOC1073033433Dec 11, 2020
LOC1079822343Jan 24, 2024
LOC1079880328Jan 24, 2024
LOC1080218465Jan 24, 2024
LOC1082811261Aug 5, 2019
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LOC1096115894Jan 24, 2024
LOC11000631977Jan 24, 2024
LOC1100112164Jan 24, 2024
LOC1101212697Jan 24, 2024
LOC1101214863Jan 24, 2024
LOC1108063062Jan 24, 2024
LOC1116744635Jan 24, 2024
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LOC11167447716Jan 24, 2024
LOC1118119652Aug 5, 2019
LOC1124862231Jun 30, 2017
LOC1125298951Jan 24, 2024
LOC1125521751Oct 10, 2018
LOC1125774866Jan 24, 2024
LOC11269475612Jan 24, 2024
LOC1128409211Jan 24, 2024
LOC1129975402Jan 24, 2024
LOC1136338771Jan 24, 2024
LOC1136641062Jan 6, 2023
LOC1139399443Jan 24, 2024
LOC1148278503Jan 6, 2023
LOC1148278519Jan 24, 2024
LOC1218530401Oct 10, 2018
LOC1221522962Jan 24, 2024
LOC1239562102Jan 4, 2022
LOC1241531546Jan 24, 2024
LOC1251773932Jan 6, 2023
LOC1251774141Oct 10, 2018
LOC1268055982Jan 24, 2024
LOC1268056141Dec 11, 2020
LOC1268056556Jan 4, 2022
LOC1268057651Jan 24, 2024
LOC1268057932Jan 6, 2023
LOC1268058773Jan 6, 2023
LOC1268059944Dec 11, 2020
LOC1268060391Mar 9, 2022
LOC1268060672Aug 5, 2019
LOC1268060681Jan 24, 2024
LOC1268062531Jan 4, 2022
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LOC1268064234Jan 6, 2023
LOC1268064245Jan 6, 2023
LOC1268064258Jan 24, 2024
LOC1268064263Dec 11, 2020
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LOC1268064331Dec 11, 2020
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LOC1268069617Jan 24, 2024
LOC1268071362Jan 4, 2022
LOC1268071376Jan 24, 2024
LOC1268075015Jan 24, 2024
LOC1268075091Oct 10, 2018
LOC1268076321Aug 5, 2019
LOC1268597661Jan 4, 2022
LOC1268598073Jan 24, 2024
LOC1268598371Jun 30, 2017
LOC1268600751Oct 10, 2018
LOC1268601211Jan 6, 2023
LOC12686012410Jan 24, 2024
LOC1268602811Jan 24, 2024
LOC1268603031Jan 24, 2024
LOC1268603683Jan 24, 2024
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TPM15Jan 4, 2022
TPRN8Jan 24, 2024
TRAP11Dec 11, 2020
TRAPPC101Dec 11, 2020
TRAPPC91Jan 6, 2023
TRB45Jan 24, 2024
TRDN14Jan 24, 2024
TRIM28Jan 24, 2024
TRIM59-IFT8017Jan 24, 2024
TRIOBP15Jan 24, 2024
TRIP1154Jan 24, 2024
TRMU9Jan 24, 2024
TRNT11Jan 24, 2024
TRPM31Jan 24, 2024
TRPM435Jan 24, 2024
TRPV454Jan 24, 2024
TRRAP2Jan 6, 2023
TSC131Jan 24, 2024
TSC2105Jan 24, 2024
TSPAN71Jan 24, 2024
TTC141Jan 6, 2023
TTC21B40Jan 24, 2024
TTC21B-AS14Jan 24, 2024
TTC83Aug 5, 2019
TTN649Jan 24, 2024
TTN-AS1334Jan 24, 2024
TTR40Jan 24, 2024
TUBB4A1Dec 11, 2020
TUBB61Jan 24, 2024
TUFM2Jan 24, 2024
TULP19Jan 24, 2024
TWNK3Jan 24, 2024
TYMP6Jan 24, 2024
UBE2A1Jun 30, 2017
UBE3A2Jan 4, 2022
UBR41Dec 11, 2020
UBTF1Jan 4, 2022
UFM11Jan 6, 2023
UGT1A78Jan 24, 2024
UGT1A141Jan 24, 2024
UGT1A1078Jan 24, 2024
UGT1A342Jan 24, 2024
UGT1A442Jan 24, 2024
UGT1A542Jan 24, 2024
UGT1A655Jan 24, 2024
UGT1A777Jan 24, 2024
UGT1A878Jan 24, 2024
UGT1A978Jan 24, 2024
UNC5A1Jan 4, 2022
UNG1Jan 24, 2024
UPP12Dec 11, 2020
UQCRB1Aug 5, 2019
UQCRQ1Oct 10, 2018
USH1C21Jan 24, 2024
USH1G5Jan 24, 2024
USH2A109Jan 24, 2024
USH2A-AS17Jan 24, 2024
USH2A-AS24Jan 24, 2024
VANGL12Jan 24, 2024
VARS21Jan 4, 2022
VAV112Jan 24, 2024
VAV21Dec 11, 2020
VCAN2Jan 6, 2023
VCAN-AS11Jan 4, 2022
VCL24Jan 24, 2024
VCP2Jun 30, 2017
VEGFC3Jan 24, 2024
VHL11Jan 24, 2024
VRK22Jun 30, 2017
VWF109Jan 24, 2024
WAC1Aug 5, 2019
WARS21Jan 4, 2022
WASHC41Oct 10, 2018
WDR1935Jan 24, 2024
WDR3527Jan 24, 2024
WDR35-DT1Jan 24, 2024
WFS154Jan 24, 2024
WHRN13Jan 24, 2024
WNK140Jan 24, 2024
WRAP536Jun 30, 2017
WSCD21Jan 24, 2024
WT16Jan 24, 2024
XBP11Aug 5, 2019
XIAP2Jan 24, 2024
XRN11Jan 24, 2024
YARS16Jan 24, 2024
YARS22Jan 24, 2024
ZBTB246Jan 24, 2024
ZDHHC81Jan 4, 2022
ZFP575Jan 24, 2024
ZIC24Jan 24, 2024
ZMYND101Apr 30, 2022
ZNF2762Jun 30, 2017
ZNF518A2Jun 30, 2017

Condition

NameSubmissionsLast Updated
3-hydroxy-3-methylglutaryl-CoA synthase deficiency3Jan 24, 2024
3-methylcrotonyl-CoA carboxylase 2 deficiency1Jan 24, 2024
3-methylglutaconic aciduria type 91Aug 5, 2019
3MC syndrome 16Jan 24, 2024
ALG1-congenital disorder of glycosylation2Jan 24, 2024
ALG11-congenital disorder of glycosylation1Jan 24, 2024
Acetyl-CoA: carboxylase deficiency1Aug 5, 2019
Action myoclonus-renal failure syndrome1Jan 4, 2022
Acyl-CoA dehydrogenase 9 deficiency3Jan 24, 2024
Adenosine kinase deficiency3Jan 24, 2024
Agammaglobulinemia 2, autosomal recessive12Jan 24, 2024
Agammaglobulinemia 3, autosomal recessive2Jan 24, 2024
Agammaglobulinemia 4, autosomal recessive5Jan 24, 2024
Agammaglobulinemia 5, autosomal dominant12Jan 24, 2024
Agammaglobulinemia 8, autosomal dominant6Apr 30, 2022
Agenesis of the corpus callosum with peripheral neuropathy8Apr 30, 2022
Alexander disease3Jan 24, 2024
Alstrom syndrome32Jan 24, 2024
Amelocerebrohypohidrotic syndrome1Jan 24, 2024
Amyotrophic lateral sclerosis, susceptibility to, 243Aug 5, 2019
Anemia, congenital dyserythropoietic, type 1a82Jan 24, 2024
Aneurysm-osteoarthritis syndrome16Jan 24, 2024
Angelman syndrome1Jan 4, 2022
Aortic aneurysm, familial thoracic 1013Jan 24, 2024
Aortic aneurysm, familial thoracic 121Jan 24, 2024
Aortic aneurysm, familial thoracic 419Dec 11, 2020
Aortic aneurysm, familial thoracic 77Aug 5, 2019
Aortic aneurysm, familial thoracic 815Jan 24, 2024
Aortic aneurysm, familial thoracic 96Jan 24, 2024
Argininosuccinate lyase deficiency1Jan 24, 2024
Ariboflavinosis3Jan 24, 2024
Arrhythmogenic right ventricular dysplasia 930Jan 24, 2024
Arterial tortuosity syndrome26Jan 24, 2024
Asphyxiating thoracic dystrophy 217Jan 24, 2024
Asphyxiating thoracic dystrophy 394Jan 24, 2024
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia5Jan 24, 2024
Ataxia-telangiectasia syndrome8Aug 5, 2019
Ataxia-telangiectasia-like disorder 116Jan 24, 2024
Atrial fibrillation, familial, 141Jan 24, 2024
Atrial fibrillation, familial, 712Jan 24, 2024
Atrial septal defect 41Jan 24, 2024
Atypical glycine encephalopathy1Jan 24, 2024
Autism, susceptibility to, 171Jan 24, 2024
Autism, susceptibility to, 51Jan 6, 2023
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD7Jan 24, 2024
Autoinflammatory syndrome, familial, Behcet-like13Apr 30, 2022
Autoinflammatory syndrome, familial, Behcet-like 114Jan 24, 2024
Autosomal dominant aplasia and myelodysplasia2Jan 24, 2024
Autosomal dominant auditory neuropathy 11Jan 24, 2024
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1Jan 24, 2024
Autosomal dominant nonsyndromic hearing loss 151Aug 5, 2019
Autosomal dominant nonsyndromic hearing loss 2A2Jan 24, 2024
Autosomal dominant nonsyndromic hearing loss 4B2Aug 5, 2019
Autosomal dominant nonsyndromic hearing loss 52Jan 24, 2024
Autosomal dominant slowed nerve conduction velocity11Jan 24, 2024
Autosomal recessive agammaglobulinemia 15Jan 6, 2023
Autosomal recessive ataxia due to ubiquinone deficiency5Jan 24, 2024
Autosomal recessive axonal neuropathy with neuromyotonia3Jan 24, 2024
Autosomal recessive early-onset Parkinson disease 63Jan 24, 2024
Autosomal recessive hypophosphatemic bone disease13Jan 24, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2C8Jan 24, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2D5Jan 24, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2E3Jan 6, 2023
Autosomal recessive nonsyndromic hearing loss 151Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 161Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 224Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 241Jan 6, 2023
Autosomal recessive nonsyndromic hearing loss 2812Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 292Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 334Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 3011Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 353Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 361Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 421Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 62Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 612Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 633Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 761Jan 4, 2022
Autosomal recessive nonsyndromic hearing loss 7713Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 796Jan 24, 2024
Autosomal recessive nonsyndromic hearing loss 87Jan 24, 2024
Autosomal recessive osteopetrosis 12Jan 4, 2022
Autosomal recessive spinocerebellar ataxia 181Jan 24, 2024
BAP1-related tumor predisposition syndrome2Dec 11, 2020
Biotinidase deficiency16Jan 24, 2024
Birk-Barel syndrome1Jan 24, 2024
Bloom syndrome11Jan 24, 2024
Bone fragility with contractures, arterial rupture, and deafness12Jan 24, 2024
Bone mineral density quantitative trait locus 182Jan 24, 2024
Borjeson-Forssman-Lehmann syndrome1Jan 24, 2024
Brain malformations with or without urinary tract defects1Jan 24, 2024
Breast-ovarian cancer, familial, susceptibility to, 420Jan 24, 2024
Brown-Vialetto-van Laere syndrome 21Jan 24, 2024
Bruck syndrome 27Jan 24, 2024
Brugada syndrome 23Jan 24, 2024
Brugada syndrome 417Jan 24, 2024
Brugada syndrome 63Jan 24, 2024
CBL-related disorder1Aug 5, 2019
Capillary malformation-arteriovenous malformation 12Jul 20, 2020
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Jan 24, 2024
Cardioacrofacial dysplasia 21Jan 24, 2024
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22Aug 5, 2019
Cardiofaciocutaneous syndrome 418Jan 24, 2024
Cardiomyopathy, familial hypertrophic 2722Jan 24, 2024
Carnitine palmitoyl transferase 1A deficiency14Jan 24, 2024
Catecholaminergic polymorphic ventricular tachycardia 27Jan 24, 2024
Catecholaminergic polymorphic ventricular tachycardia 521Jan 24, 2024
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction1Jan 24, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Dec 11, 2020
Cerebellar atrophy with seizures and variable developmental delay1Jan 24, 2024
Cerebral cavernous malformation 214Jan 24, 2024
Cerebral cavernous malformation 32Jan 24, 2024
Charcot-Marie-Tooth disease X-linked dominant 18Jan 24, 2024
Charcot-Marie-Tooth disease X-linked dominant 61Jan 6, 2023
Charcot-Marie-Tooth disease axonal type 2O1Jul 20, 2020
Charcot-Marie-Tooth disease axonal type 2P15Jan 24, 2024
Charcot-Marie-Tooth disease dominant intermediate C2Aug 5, 2019
Charcot-Marie-Tooth disease dominant intermediate F6Jan 24, 2024
Charcot-Marie-Tooth disease type 1C6Jan 24, 2024
Charcot-Marie-Tooth disease type 2B2Jan 24, 2024
Charcot-Marie-Tooth disease type 2R7Jan 24, 2024
Charcot-Marie-Tooth disease type 4B111Jan 24, 2024
Charcot-Marie-Tooth disease type 4B223Jan 24, 2024
Charcot-Marie-Tooth disease type 4B371Jan 24, 2024
Charcot-Marie-Tooth disease type 4D13Jan 24, 2024
Charcot-Marie-Tooth disease type 4H13Jan 24, 2024
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Jan 4, 2022
Chorea-acanthocytosis2Jan 24, 2024
Choroideremia2Jan 24, 2024
Chudley-McCullough syndrome4Jan 24, 2024
Chédiak-Higashi syndrome1Jan 6, 2023
Ciliary dyskinesia, primary, 424Jan 24, 2024
Citrullinemia type I15Jan 24, 2024
Cobalamin C disease2Jan 24, 2024
Cocoon syndrome1Aug 5, 2019
Coffin-Siris syndrome 11Jan 24, 2024
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Jan 4, 2022
Cole-Carpenter syndrome 28Jan 24, 2024
Combined immunodeficiency due to LRBA deficiency19Jan 24, 2024
Combined immunodeficiency due to MALT1 deficiency3Jan 24, 2024
Combined malonic and methylmalonic acidemia9Jan 24, 2024
Combined oxidative phosphorylation defect type 201Jan 4, 2022
Combined oxidative phosphorylation defect type 42Jan 24, 2024
Combined oxidative phosphorylation deficiency 442Jan 24, 2024
Complement component 6 deficiency1Jan 24, 2024
Complement component 7 deficiency1Jan 24, 2024
Congenital bile acid synthesis defect 52Jan 24, 2024
Congenital bile acid synthesis defect 61Jan 24, 2024
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome20Jan 24, 2024
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1Jan 24, 2024
Congenital cataracts-facial dysmorphism-neuropathy syndrome1Jan 24, 2024
Congenital disorder of deglycosylation 21Jan 24, 2024
Congenital disorder of glycosylation type Ir1Jan 24, 2024
Congenital disorder of glycosylation, type IIq1Jan 24, 2024
Congenital dyserythropoietic anemia, type I3Dec 11, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Jan 24, 2024
Congenital heart defects, multiple types, 91Jan 24, 2024
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type5Jan 24, 2024
Congenital myasthenic syndrome 181Oct 27, 2022
Congenital myopathy 202Jan 24, 2024
Congenital sensory neuropathy with selective loss of small myelinated fibers4Jan 24, 2024
Constitutional megaloblastic anemia with severe neurologic disease9Jan 24, 2024
Cornelia de Lange syndrome 11Jan 4, 2022
Cornelia de Lange syndrome 31Jan 4, 2022
Cowden syndrome 43Jan 24, 2024
Creatine transporter deficiency1Jan 24, 2024
Cutis laxa, autosomal recessive, type 1B20Jan 24, 2024
Cystinuria4Jan 24, 2024
DDX41-related hematologic malignancy predisposition syndrome3Apr 30, 2022
DK1-congenital disorder of glycosylation2Jan 24, 2024
DYRK1A-related intellectual disability syndrome1Jan 24, 2024
Danon disease5Jan 24, 2024
DeSanto-Shinawi syndrome due to WAC point mutation1Aug 5, 2019
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase36Jan 24, 2024
Deficiency of acetyl-CoA acetyltransferase6Jan 24, 2024
Deficiency of bisphosphoglycerate mutase1Jan 24, 2024
Deficiency of butyryl-CoA dehydrogenase4Jan 24, 2024
Deficiency of guanidinoacetate methyltransferase2Jan 4, 2022
Deficiency of iodide peroxidase1Jan 24, 2024
Deficiency of malonyl-CoA decarboxylase4Jan 24, 2024
Developmental and epileptic encephalopathy 941Jan 6, 2023
Developmental and epileptic encephalopathy, 183Jan 24, 2024
Developmental and epileptic encephalopathy, 251Jan 24, 2024
Developmental and epileptic encephalopathy, 32Jan 24, 2024
Developmental and epileptic encephalopathy, 321Jan 24, 2024
Developmental and epileptic encephalopathy, 41Jan 24, 2024
Developmental and epileptic encephalopathy, 411Jan 24, 2024
Developmental and epileptic encephalopathy, 51Jan 24, 2024
Developmental and epileptic encephalopathy, 502Jan 24, 2024
Developmental and epileptic encephalopathy, 651Jan 24, 2024
Developmental and epileptic encephalopathy, 692Jan 24, 2024
Developmental and epileptic encephalopathy, 771Jan 4, 2022
Developmental and epileptic encephalopathy, 93Jan 24, 2024
Developmental delay with variable intellectual impairment and behavioral abnormalities2Jan 24, 2024
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures2Jan 24, 2024
Diabetes mellitus, transient neonatal, 19Jan 24, 2024
Dihydropteridine reductase deficiency1Jan 24, 2024
Dilated cardiomyopathy 1DD26Jan 24, 2024
Dilated cardiomyopathy 1JJ39Jan 24, 2024
Dilated cardiomyopathy 2B3Jan 24, 2024
Distal arthrogryposis type 2B12Jan 24, 2024
Distal arthrogryposis type 5D2Jan 6, 2023
Ectodermal dysplasia and immunodeficiency 22Jan 24, 2024
Ehlers-Danlos syndrome, classic type26Dec 11, 2020
Ehlers-Danlos syndrome, classic type, 265Jan 24, 2024
Ehlers-Danlos syndrome, kyphoscoliotic type 153Jan 24, 2024
Ehlers-Danlos syndrome, musculocontractural type 11Jan 4, 2022
Elliptocytosis 126Jan 24, 2024
Emery-Dreifuss muscular dystrophy 1, X-linked1Jan 24, 2024
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome3Jan 24, 2024
Epilepsy, early-onset, vitamin B6-dependent1Jan 24, 2024
Epilepsy, familial focal, with variable foci 12Jan 24, 2024
Epilepsy, familial focal, with variable foci 32Jan 24, 2024
Episodic pain syndrome, familial, 22Jan 24, 2024
Erythrocytosis, familial, 412Jan 24, 2024
Ethylmalonic encephalopathy1Jan 24, 2024
FRAXE1Jan 6, 2023
Familial Mediterranean fever1Oct 30, 2019
Familial adenomatous polyposis 32Jan 6, 2023
Familial cancer of breast18Jan 24, 2024
Familial cold autoinflammatory syndrome 266Jan 24, 2024
Familial dysautonomia9Jan 4, 2022
Familial hemophagocytic lymphohistiocytosis type 16Jan 24, 2024
Familial infantile myoclonic epilepsy1May 27, 2015
Familial pulmonary capillary hemangiomatosis45Jan 24, 2024
Fanconi anemia complementation group I1Jan 24, 2024
Fanconi anemia complementation group J6Aug 5, 2019
Fetal hemoglobin quantitative trait locus 12Jan 4, 2022
Fibrosis of extraocular muscles, congenital, 51Jan 4, 2022
Fructose-biphosphatase deficiency1Jan 24, 2024
Geroderma osteodysplastica3Jan 24, 2024
Giant axonal neuropathy 18Jan 24, 2024
Global developmental delay with or without impaired intellectual development1Jan 24, 2024
Glomuvenous malformation9Jan 24, 2024
Glutamate pyruvate transaminase 2 deficiency1Jan 24, 2024
Glycine encephalopathy 11Jan 24, 2024
Glycogen storage disease IXb7Jan 24, 2024
Glycogen storage disease IXc1Jan 6, 2023
Glycogen storage disease IXd1Jan 24, 2024
Glycogen storage disease due to muscle and heart glycogen synthase deficiency7Jan 24, 2024
Glycogen storage disease due to muscle beta-enolase deficiency6Jan 24, 2024
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency10Jan 24, 2024
Glycogen storage disease, type II47Jan 24, 2024
Glycogen storage disease, type V10Jan 24, 2024
Glycogen storage disease, type VI10Jan 24, 2024
Glycogen storage disease, type VII38Jan 24, 2024
Glycogen storage disorder due to hepatic glycogen synthase deficiency6Jan 24, 2024
HNSHA due to aldolase A deficiency15Jan 24, 2024
Hemolytic anemia due to adenylate kinase deficiency18Jan 24, 2024
Hemolytic anemia due to glucophosphate isomerase deficiency30Jan 24, 2024
Hemolytic anemia due to glutathione reductase deficiency17Jan 24, 2024
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency20Jan 24, 2024
Hennekam lymphangiectasia-lymphedema syndrome 16Jan 24, 2024
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 14Jan 24, 2024
Hereditary factor VIII deficiency disease160Jan 6, 2023
Hereditary fructosuria2Jan 24, 2024
Hereditary insensitivity to pain with anhidrosis23Jan 24, 2024
Hereditary pancreatitis92Jan 24, 2024
Hereditary persistence of fetal hemoglobin12Jan 24, 2024
Hereditary sensory and autonomic neuropathy with spastic paraplegia7Jan 24, 2024
Hereditary spastic paraplegia 78Jan 24, 2024
Hereditary spherocytosis type 1171Jan 24, 2024
Hereditary spherocytosis type 538Jan 24, 2024
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11Aug 5, 2019
Heterotaxy, visceral, 5, autosomal2Jan 24, 2024
Heterotaxy, visceral, 7, autosomal1Jan 24, 2024
Heterotaxy, visceral, 8, autosomal6Jan 24, 2024
Holoprosencephaly 1110Jan 24, 2024
Holoprosencephaly 44Jan 24, 2024
Holoprosencephaly 55Jan 24, 2024
Hydrocephalus, nonsyndromic, autosomal recessive 21Jun 28, 2017
Hyper-IgM syndrome type 11Jan 24, 2024
Hyper-IgM syndrome type 24Jan 24, 2024
Hyper-IgM syndrome type 36Jan 24, 2024
Hyper-IgM syndrome type 53Jan 24, 2024
Hypercholesterolemia, familial, 46Jan 24, 2024
Hyperekplexia 11Jan 4, 2022
Hyperekplexia 31Jan 24, 2024
Hyperekplexia 41Jan 6, 2023
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1Jan 24, 2024
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2Jan 24, 2024
Hyperphosphatasia with intellectual disability syndrome 21Jan 24, 2024
Hypertrophic cardiomyopathy 113Jan 24, 2024
Hypertrophic cardiomyopathy 101Jan 4, 2022
Hypertrophic cardiomyopathy 163Jan 24, 2024
Hypertrophic cardiomyopathy 83Jan 24, 2024
Hypogonadotropic hypogonadism 6 with or without anosmia3Jan 24, 2024
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome7Jan 24, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Jan 24, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Jan 24, 2024
Imerslund-Grasbeck syndrome4Aug 5, 2019
Imerslund-Grasbeck syndrome type 26Jan 24, 2024
Immunodeficiency 1041Jan 4, 2022
Immunodeficiency 1054Jan 24, 2024
Immunodeficiency 146Dec 11, 2020
Immunodeficiency 97 with autoinflammation1Jan 24, 2024
Immunodeficiency, common variable, 16Jan 24, 2024
Immunodeficiency, common variable, 109Jan 24, 2024
Immunodeficiency, common variable, 127Jan 24, 2024
Immunodeficiency, common variable, 146Jan 24, 2024
Immunodeficiency, common variable, 37Jan 24, 2024
Immunodeficiency, common variable, 47Jan 24, 2024
Immunodeficiency, common variable, 52Jan 24, 2024
Immunodeficiency, common variable, 62Jan 24, 2024
Immunodeficiency-centromeric instability-facial anomalies syndrome 12Jan 4, 2022
Immunodeficiency-centromeric instability-facial anomalies syndrome 27Jan 24, 2024
Immunodeficiency-centromeric instability-facial anomalies syndrome 33Jan 24, 2024
Immunodeficiency-centromeric instability-facial anomalies syndrome 46Jan 24, 2024
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2Jan 24, 2024
Intellectual developmental disorder 621Jan 24, 2024
Intellectual developmental disorder with autism and macrocephaly1Aug 5, 2019
Intellectual developmental disorder with autistic features and language delay, with or without seizures1Jan 6, 2023
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 developmental disorder, autosomal dominant 653Jan 24, 2024
Intellectual disability, X-linked 11Aug 5, 2019
Intellectual disability, X-linked 581Jan 24, 2024
Intellectual disability, X-linked 971Jan 24, 2024
Intellectual disability, X-linked syndromic, Turner type2Jan 24, 2024
Intellectual disability, autosomal dominant 141Jan 24, 2024
Intellectual disability, autosomal dominant 501Jan 24, 2024
Intellectual disability, autosomal dominant 511Jan 24, 2024
Intellectual disability, autosomal dominant 561Aug 5, 2019
Intellectual disability, autosomal recessive 131Jan 6, 2023
Intellectual disability, autosomal recessive 33Jan 24, 2024
Intellectual disability, autosomal recessive 652Jan 24, 2024
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2Jan 24, 2024
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Aug 5, 2019
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Jan 24, 2024
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome1Jan 24, 2024
Interstitial lung disease due to ABCA3 deficiency1Jan 24, 2024
Isovaleryl-CoA dehydrogenase deficiency1Jan 6, 2023
Joubert syndrome 32Jan 24, 2024
KBG syndrome3Jan 24, 2024
Kabuki syndrome 130Jan 6, 2023
Kabuki syndrome 24Jan 24, 2024
Kartagener syndrome4Jan 24, 2024
Kleefstra syndrome 11Jan 24, 2024
Koolen-de Vries syndrome1Jan 24, 2024
Lafora disease2Jan 24, 2024
Landau-Kleffner syndrome2Jan 24, 2024
Lathosterolosis1Aug 5, 2019
Leber congenital amaurosis 126Jan 24, 2024
Leber congenital amaurosis 131Jan 24, 2024
Leber congenital amaurosis 54Jan 24, 2024
Leber congenital amaurosis 92Aug 5, 2019
Left ventricular noncompaction 115Jan 24, 2024
Legius syndrome9Jan 24, 2024
Leukocyte adhesion deficiency 11Jan 24, 2024
Leukocyte adhesion deficiency type II1Jan 6, 2023
Leukodystrophy, hypomyelinating, 141Jan 6, 2023
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3Jan 24, 2024
Li-Fraumeni syndrome 11Feb 6, 2020
Lissencephaly 102Jan 24, 2024
Loeys-Dietz syndrome 416Jan 24, 2024
Long QT syndrome 1118Jan 24, 2024
Long QT syndrome 1213Jan 24, 2024
Lymphatic malformation 43Jan 24, 2024
Lymphoproliferative syndrome 22Jan 24, 2024
MOGS-congenital disorder of glycosylation9Jan 24, 2024
Macrocephaly, dysmorphic facies, and psychomotor retardation1Jan 6, 2023
Majeed syndrome58Jan 24, 2024
Major affective disorder 71Aug 5, 2019
Mandibulofacial dysostosis-microcephaly syndrome1Jan 24, 2024
Maple syrup urine disease1Dec 11, 2020
Maple syrup urine disease type 1A10Jan 24, 2024
Marfan syndrome1Sep 27, 2023
Maturity-onset diabetes of the young type 1112Jan 24, 2024
Maturity-onset diabetes of the young type 145Jan 24, 2024
Maturity-onset diabetes of the young type 71Jan 24, 2024
Maturity-onset diabetes of the young type 86Jan 24, 2024
Medium-chain acyl-coenzyme A dehydrogenase deficiency86Jan 24, 2024
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness7Jan 24, 2024
Meier-Gorlin syndrome 11Jan 24, 2024
Melanoma, cutaneous malignant, susceptibility to, 32Jan 24, 2024
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency2Jan 24, 2024
Methylmalonic acidemia due to transcobalamin receptor defect2Jan 24, 2024
Methylmalonic acidemia with homocystinuria, type cblJ5Jan 24, 2024
Methylmalonic acidemia with homocystinuria, type cblX8Jan 24, 2024
Methylmalonic aciduria and homocystinuria type cblF2Jan 24, 2024
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency6Jan 24, 2024
Methylmalonic aciduria, cblA type2Jan 24, 2024
Methylmalonic aciduria, cblB type3Jan 24, 2024
Microcephalic osteodysplastic primordial dwarfism type II99Jan 24, 2024
Microcephaly 3, primary, autosomal recessive1Aug 5, 2019
Microcephaly-capillary malformation syndrome3Jan 24, 2024
Mitochondrial DNA depletion syndrome 12Jan 24, 2024
Mitochondrial DNA depletion syndrome 131Jan 24, 2024
Mitochondrial DNA depletion syndrome 92Jan 24, 2024
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria3Jan 24, 2024
Mitochondrial complex 1 deficiency, nuclear type 102Jan 24, 2024
Mitochondrial complex 1 deficiency, nuclear type 112Jan 24, 2024
Mitochondrial complex 1 deficiency, nuclear type 121Jan 6, 2023
Mitochondrial complex 1 deficiency, nuclear type 152Jan 24, 2024
Mitochondrial complex 1 deficiency, nuclear type 162Jan 24, 2024
Mitochondrial complex 1 deficiency, nuclear type 54Jan 24, 2024
Mitochondrial complex 1 deficiency, nuclear type 63Jan 24, 2024
Mitochondrial complex 1 deficiency, nuclear type 73Jan 24, 2024
Mitochondrial complex 1 deficiency, nuclear type 82Jan 24, 2024
Mitochondrial complex 1 deficiency, nuclear type 91Jan 24, 2024
Mitochondrial complex 4 deficiency, nuclear type 142Jan 24, 2024
Mitochondrial complex 4 deficiency, nuclear type 31Jan 24, 2024
Mitochondrial complex 4 deficiency, nuclear type 41Jan 24, 2024
Mitochondrial complex III deficiency nuclear type 31Aug 5, 2019
Mitochondrial complex V (ATP synthase) deficiency nuclear type 21Jan 24, 2024
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 12Jan 24, 2024
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency4Jan 24, 2024
Mitochondrial trifunctional protein deficiency 26Jan 24, 2024
Mowat-Wilson syndrome2Jan 24, 2024
Moyamoya disease 21Aug 5, 2019
Mucopolysaccharidosis, MPS-IV-A1Jan 24, 2024
Multiple acyl-CoA dehydrogenase deficiency9Jan 24, 2024
Multiple congenital anomalies-hypotonia-seizures syndrome 13Jan 24, 2024
Multiple endocrine neoplasia type 45Jan 24, 2024
Multiple endocrine neoplasia, type 111Aug 5, 2019
Myasthenic syndrome, congenital, 221Jan 24, 2024
Myasthenic syndrome, congenital, 24, presynaptic1Jan 6, 2023
Myoclonic-atonic epilepsy1Jan 24, 2024
Myofibrillar myopathy 33Jan 24, 2024
Myoglobinuria, acute recurrent, autosomal recessive6Jan 24, 2024
Myopathy, lactic acidosis, and sideroblastic anemia 12Jan 24, 2024
Nasopharyngeal carcinoma1Jan 24, 2024
Nephronophthisis 163Jan 6, 2023
Neuroblastoma, susceptibility to, 329Jan 24, 2024
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1Jan 24, 2024
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Jan 4, 2022
Neurodevelopmental disorder with language delay and seizures1Jan 24, 2024
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures2Jan 24, 2024
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Jan 4, 2022
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1Jan 24, 2024
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1Jan 4, 2022
Neuronal ceroid lipofuscinosis 132Jan 24, 2024
Neuronal ceroid lipofuscinosis 51Jan 24, 2024
Neuronopathy, distal hereditary motor, autosomal recessive 55Jan 24, 2024
Neuronopathy, distal hereditary motor, autosomal recessive 71Jan 24, 2024
Neuronopathy, distal hereditary motor, type 2C2Aug 5, 2019
Neuropathy, hereditary sensory and autonomic, type 1A7Jan 6, 2023
Neuropathy, hereditary sensory and autonomic, type 1C12Jan 24, 2024
Neuropathy, hereditary sensory and autonomic, type 2B12Jan 24, 2024
Non-ketotic hyperglycinemia1Jan 4, 2022
Noonan syndrome51Aug 5, 2019
Noonan syndrome 83Jan 24, 2024
Noonan syndrome 924Jan 24, 2024
Noonan syndrome-like disorder with loose anagen hair 18Jan 24, 2024
Oculocutaneous albinism type 71Jan 24, 2024
Opsismodysplasia7Jan 24, 2024
Ornithine carbamoyltransferase deficiency7Jan 4, 2022
Orotic aciduria1Jan 24, 2024
Osteogenesis imperfecta type 123Jan 24, 2024
Osteogenesis imperfecta type 138Jan 24, 2024
Osteogenesis imperfecta type 143Jan 24, 2024
Osteogenesis imperfecta type 166Jan 24, 2024
Osteogenesis imperfecta type 173Jan 24, 2024
Osteogenesis imperfecta type 54Jan 24, 2024
Osteogenesis imperfecta type 65Jan 24, 2024
Osteogenesis imperfecta type 713Jan 24, 2024
Osteogenesis imperfecta type 834Jan 24, 2024
Osteogenesis imperfecta type 94Jan 24, 2024
Otitis media, susceptibility to1Jan 24, 2024
PGM1-congenital disorder of glycosylation6Jan 24, 2024
Pancreatic insufficiency-anemia-hyperostosis syndrome2Jan 6, 2023
Pancytopenia due to IKZF1 mutations3Jan 24, 2024
Patterned macular dystrophy 26Jan 24, 2024
Periventricular heterotopia with microcephaly, autosomal recessive1Aug 5, 2019
Periventricular nodular heterotopia 81Mar 9, 2022
Peroxisome biogenesis disorder 12A (Zellweger)1Jan 24, 2024
Peroxisome biogenesis disorder 13A (Zellweger)2Jan 24, 2024
Pheochromocytoma3Jan 24, 2024
Polycystic kidney disease 233Dec 11, 2020
Polycystic kidney disease, adult type313Dec 11, 2020
Polyglucosan body myopathy type 12Jan 24, 2024
Pontocerebellar hypoplasia type 62Jan 24, 2024
Pontocerebellar hypoplasia type 71Jan 24, 2024
Preeclampsia/eclampsia 51Aug 5, 2019
Primary ciliary dyskinesia 105Jan 24, 2024
Primary ciliary dyskinesia 114Jan 24, 2024
Primary ciliary dyskinesia 121Jan 24, 2024
Primary ciliary dyskinesia 139Jan 24, 2024
Primary ciliary dyskinesia 146Jan 24, 2024
Primary ciliary dyskinesia 1517Jan 24, 2024
Primary ciliary dyskinesia 162Jan 24, 2024
Primary ciliary dyskinesia 185Jan 24, 2024
Primary ciliary dyskinesia 27Jan 24, 2024
Primary ciliary dyskinesia 2012Jan 24, 2024
Primary ciliary dyskinesia 213Jan 6, 2023
Primary ciliary dyskinesia 221Apr 30, 2022
Primary ciliary dyskinesia 237Jan 24, 2024
Primary ciliary dyskinesia 244Jan 24, 2024
Primary ciliary dyskinesia 274Jan 24, 2024
Primary ciliary dyskinesia 286Jan 24, 2024
Primary ciliary dyskinesia 291Jan 24, 2024
Primary ciliary dyskinesia 337Jan 24, 2024
Primary ciliary dyskinesia 3012Jan 24, 2024
Primary ciliary dyskinesia 326Jan 24, 2024
Primary ciliary dyskinesia 332Jan 24, 2024
Primary ciliary dyskinesia 62Jan 24, 2024
Primary ciliary dyskinesia 748Jan 24, 2024
Primary ciliary dyskinesia 95Jan 24, 2024
Primary familial polycythemia due to EPO receptor mutation4Jan 24, 2024
Primary hyperoxaluria, type I1Jan 24, 2024
Primary intraosseous venous malformation3Jan 24, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11Sep 8, 2021
Progressive familial heart block type IB6Aug 5, 2019
Progressive myoclonic epilepsy type 71Jan 24, 2024
Progressive pseudorheumatoid dysplasia2Jan 24, 2024
Propionic acidemia10Jan 24, 2024
Pulmonary hypertension, primary, 211Jan 24, 2024
Pulmonary hypertension, primary, 44Jan 24, 2024
Purine-nucleoside phosphorylase deficiency1Jan 24, 2024
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome64Jan 24, 2024
Pyridoxine-dependent epilepsy1Jan 24, 2024
Pyruvate carboxylase deficiency4Jan 24, 2024
Pyruvate dehydrogenase E2 deficiency2Jan 24, 2024
Pyruvate dehydrogenase E3 deficiency4Jan 24, 2024
Pyruvate dehydrogenase E3-binding protein deficiency4Jan 24, 2024
RECON progeroid syndrome6Jan 24, 2024
RFT1-congenital disorder of glycosylation3Jan 24, 2024
RIDDLE syndrome6Jan 24, 2024
Renal carnitine transport defect28Jan 24, 2024
Renal cell carcinoma, Xp11-associated1Jan 4, 2022
Retinal dystrophy with leukodystrophy1Jan 24, 2024
Retinitis pigmentosa 114Jan 24, 2024
Retinitis pigmentosa 115Jan 24, 2024
Retinitis pigmentosa 1315Jan 24, 2024
Retinitis pigmentosa 171Aug 5, 2019
Retinitis pigmentosa 22Jan 24, 2024
Retinitis pigmentosa 2523Jan 24, 2024
Retinitis pigmentosa 264Jan 24, 2024
Retinitis pigmentosa 282Aug 5, 2019
Retinitis pigmentosa 304Jan 24, 2024
Retinitis pigmentosa 313Jan 4, 2022
Retinitis pigmentosa 339Jan 24, 2024
Retinitis pigmentosa 389Jan 24, 2024
Retinitis pigmentosa 439Jan 24, 2024
Retinitis pigmentosa 441Jan 24, 2024
Retinitis pigmentosa 4516Jan 24, 2024
Retinitis pigmentosa 481Aug 5, 2019
Retinitis pigmentosa 493Jan 24, 2024
Retinitis pigmentosa 549Jan 24, 2024
Retinitis pigmentosa 622Jan 24, 2024
Retinitis pigmentosa 71Jan 24, 2024
Retinitis pigmentosa 92Jan 24, 2024
Rett syndrome, congenital variant1Jan 24, 2024
Rhabdomyolysis, susceptibility to, 14Jan 24, 2024
Rhizomelic chondrodysplasia punctata type 218Jan 24, 2024
Rhizomelic chondrodysplasia punctata type 317Jan 24, 2024
Rotor syndrome91Jan 24, 2024
SLC35A2-congenital disorder of glycosylation2Jan 24, 2024
Schaaf-Yang syndrome1Aug 5, 2019
Schimke immuno-osseous dysplasia8Jan 24, 2024
Schneckenbecken dysplasia4Jan 24, 2024
Seizures, benign familial neonatal, 22Jan 24, 2024
Severe X-linked myotubular myopathy2Jan 24, 2024
Severe combined immunodeficiency due to DNA-PKcs deficiency5Jan 24, 2024
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1Jan 15, 2020
Short-rib thoracic dysplasia 11 with or without polydactyly1Jan 24, 2024
Shprintzen-Goldberg syndrome36Jan 24, 2024
Sjögren-Larsson syndrome1Jan 6, 2023
Smith-Lemli-Opitz syndrome27Jan 6, 2023
Snijders Blok-Campeau syndrome1Jan 4, 2022
Sotos syndrome3Jan 24, 2024
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1Jan 24, 2024
Spermatogenic failure 671Jan 6, 2023
Spinocerebellar ataxia, autosomal recessive 302Jan 24, 2024
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 14Jan 24, 2024
Sponastrime dysplasia1Jan 4, 2022
Spondylocostal dysostosis 1, autosomal recessive32Jan 24, 2024
Stuve-Wiedemann syndrome16Jan 4, 2022
Stüve-Wiedemann syndrome 118Jan 24, 2024
Succinyl-CoA acetoacetate transferase deficiency6Jan 24, 2024
Sulfite oxidase deficiency2Jan 24, 2024
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1Jan 24, 2024
Syndromic X-linked intellectual disability 941Jan 24, 2024
Syndromic X-linked intellectual disability Claes-Jensen type1Jan 24, 2024
T-B+ severe combined immunodeficiency due to JAK3 deficiency1Jan 24, 2024
Telangiectasia, hereditary hemorrhagic, type 192Jan 24, 2024
Telangiectasia, hereditary hemorrhagic, type 289Jan 24, 2024
Telangiectasia, hereditary hemorrhagic, type 512Jan 24, 2024
Thrombocytopenia 216Jan 24, 2024
Thrombocytopenia 41Jan 24, 2024
Tooth agenesis, selective, 91Jan 24, 2024
Transcobalamin II deficiency12Jan 24, 2024
Tremor, hereditary essential, 51Jan 24, 2024
Trichohepatoenteric syndrome 12Jan 4, 2022
Triosephosphate isomerase deficiency18Jan 24, 2024
Usher syndrome type 1G3Jan 24, 2024
Very long chain acyl-CoA dehydrogenase deficiency114Jan 24, 2024
Vitamin D-dependent rickets, type 1A3Jan 24, 2024
Wagner syndrome4Jan 24, 2024
Wilson disease147Jan 24, 2024
Wilson-Turner syndrome2Jan 6, 2023
Wolcott-Rallison dysplasia4Jan 24, 2024
X-linked Alport syndrome24Jan 24, 2024
X-linked Emery-Dreifuss muscular dystrophy2Jan 4, 2022
X-linked Opitz G/BBB syndrome1Jan 24, 2024
X-linked chondrodysplasia punctata 112Jan 24, 2024
X-linked intellectual disability Cabezas type1Aug 5, 2019
X-linked lymphoproliferative disease due to XIAP deficiency3Jan 24, 2024
X-linked mixed hearing loss with perilymphatic gusher4Jan 24, 2024
X-linked progressive cerebellar ataxia1Jan 24, 2024
X-linked sideroblastic anemia with ataxia3Jan 24, 2024
Yoon-Bellen neurodevelopmental syndrome1Jan 24, 2024
ZTTK syndrome1Jan 4, 2022
not provided13477Jan 24, 2024
not specified2830Feb 2, 2022

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 21 test
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
ALG1-congenital disorder of glycosylation1 test
ALG3-congenital disorder of glycosylation1 test
ALG6-congenital disorder of glycosylation 1C1 test
ALG8 congenital disorder of glycosylation1 test
ALG9 congenital disorder of glycosylation1 test
Abacavir hypersensitivity1 test
Abnormal heart morphology1 test
Achondrogenesis type II2 tests
Achondrogenesis, type IA2 tests
Achondrogenesis, type IB2 tests
Achondroplasia4 tests
Acquired hemoglobin H disease1 test
Acquired polycythemia vera1 test
Acromicric dysplasia1 test
Action myoclonus-renal failure syndrome1 test
Acute Recurrent Myoglobinuria1 test
Acute lymphoid leukemia2 tests
Acute myeloid leukemia2 tests
Acyl-CoA dehydrogenase 9 deficiency1 test
Acyl-CoA oxidase deficiency1 test
Adams-Oliver syndrome 51 test
Adenomatous polyposis coli, attenuated1 test
Adenylosuccinate lyase deficiency1 test
Adult hypophosphatasia1 test
Agammaglobulinemia 2, autosomal recessive1 test
Agammaglobulinemia 3, autosomal recessive1 test
Agammaglobulinemia 4, autosomal recessive1 test
Agammaglobulinemia 6, autosomal recessive1 test
Agammaglobulinemia 7, autosomal recessive1 test
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi-Goutieres syndrome 21 test
Aicardi-Goutieres syndrome 31 test
Aicardi-Goutieres syndrome 41 test
Aicardi-Goutieres syndrome 51 test
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
Alexander disease1 test
Allopurinol response1 test
Alpha trait thalassemia2 tests
Alpha-1-antitrypsin deficiency1 test
Alpha-methylacyl-CoA racemase deficiency2 tests
Alpha-thalassemia and related diseases2 tests
Alport syndrome1 test
Alprazolam response1 test
Alstrom syndrome1 test
Alzheimer disease2 tests
Amelocerebrohypohidrotic syndrome1 test
Amyloidogenic transthyretin amyloidosis3 tests
Andersen Tawil syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency3 tests
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome3 tests
Ankylosing spondylitis1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 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
Arginase deficiency1 test
Arginine:glycine amidinotransferase deficiency1 test
Ariboflavinosis1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1 test
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 21 test
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair1 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 syndrome6 tests
Ataxia-telangiectasia-like disorder1 test
Atelosteogenesis2 tests
Atrial conduction disease1 test
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 71 test
Atrial fibrillation, familial, 91 test
Atrial septal defect 71 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 41 test
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
Autosomal agammaglobulinemia1 test
Autosomal dominant aplasia and myelodysplasia1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal dominant slowed nerve conduction velocity1 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
Autosomal recessive spinocerebellar ataxia 71 test
BAP1-related tumor predisposition syndrome3 tests
Bannayan-Riley-Ruvalcaba syndrome1 test
Basal cell carcinoma, susceptibility to, 11 test
Becker muscular dystrophy5 tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
Bent bone dysplasia syndrome 12 tests
Beta-thalassemia and related diseases2 tests
Bilateral frontoparietal polymicrogyria1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency2 tests
Birt-Hogg-Dube syndrome3 tests
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Blepharophimosis-impaired intellectual development syndrome1 test
Bloom syndrome4 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone marrow failure syndrome 31 test
Bone mineral density quantitative trait locus 181 test
Borjeson-Forssman-Lehmann syndrome1 test
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Branched-chain keto acid dehydrogenase kinase deficiency1 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Breast-ovarian cancer, familial, susceptibility to, 32 tests
Breast-ovarian cancer, familial, susceptibility to, 43 tests
Brown-Vialetto-van Laere syndrome 11 test
Brown-Vialetto-van Laere syndrome 21 test
Bruck syndrome 21 test
Brugada syndrome1 test
Brugada syndrome 11 test
Brugada syndrome 31 test
Bupropion response4 tests
CBL-related disorder3 tests
CYP2C19-related poor drug metabolism2 tests
Camptomelic dysplasia2 tests
Canavan Disease, Familial Form1 test
Capecitabine response1 test
Capillary malformation-arteriovenous malformation syndrome3 tests
Carbamazepine hypersensitivity1 test
Carcinoma of colon1 test
Carcinoma of pancreas1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiofaciocutaneous syndrome 12 tests
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy2 tests
Cardiomyopathy, familial restrictive, 12 tests
Cardiomyopathy, familial restrictive, 32 tests
Carney-Stratakis syndrome1 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyltransferase II deficiency2 tests
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 21 test
Catecholaminergic polymorphic ventricular tachycardia 31 test
Celiac disease1 test
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease1 test
Cerebellar atrophy with seizures and variable developmental delay1 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
Cerebral folate transport deficiency1 test
Cerebroretinal microangiopathy with calcifications and cysts 11 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A1 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 encephalopathy due to thiamine pyrophosphokinase deficiency1 test
Childhood hypophosphatasia1 test
Childhood onset GLUT1 deficiency syndrome 21 test
Chondrodysplasia punctata2 tests
Chorea-acanthocytosis1 test
Christianson syndrome1 test
Chromosome 2p16.3 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic obstructive pulmonary disease1 test
Chuvash polycythemia3 tests
Cleidocranial dysostosis2 tests
Clozapine response1 test
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 21 test
Colorectal cancer3 tests
Colorectal cancer, hereditary nonpolyposis, type 22 tests
Combined PSAP deficiency1 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
Combined oxidative phosphorylation defect type 271 test
Common variable immunodeficiency1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital bile acid synthesis defect1 test
Congenital contractural arachnodactyly1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital disorder of deglycosylation 11 test
Congenital disorder of glycosylation type 1E1 test
Congenital disorder of glycosylation, type IIr1 test
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1 test
Congenital malabsorptive diarrhea 41 test
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 181 test
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital vertical talus1 test
Corneal dystrophy, Fuchs endothelial, 31 test
Cortical dysplasia-focal epilepsy syndrome1 test
Costello syndrome3 tests
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, X-linked1 test
Cutis laxa, autosomal recessive, type 1B1 test
Cyclical neutropenia2 tests
Cystathioninuria1 test
Cystic fibrosis4 tests
Czech dysplasia, metatarsal type2 tests
DDX41-related hematologic malignancy predisposition syndrome1 test
DK1-congenital disorder of glycosylation1 test
DRUG METABOLISM, ALTERED, CYP2C8-RELATED3 tests
DYRK1A-related intellectual disability syndrome1 test
Danon disease3 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 bisphosphoglycerate mutase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of cytochrome-b5 reductase2 tests
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of malonyl-CoA decarboxylase2 tests
Desmin-related myofibrillar myopathy1 test
Developmental and epileptic encephalopathy 1011 test
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy 991 test
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 191 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 211 test
Developmental and epileptic encephalopathy, 231 test
Developmental and epileptic encephalopathy, 251 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 271 test
Developmental and epileptic encephalopathy, 281 test
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 31 test
Developmental and epileptic encephalopathy, 311 test
Developmental and epileptic encephalopathy, 321 test
Developmental and epileptic encephalopathy, 331 test
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 371 test
Developmental and epileptic encephalopathy, 381 test
Developmental and epileptic encephalopathy, 391 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 411 test
Developmental and epileptic encephalopathy, 421 test
Developmental and epileptic encephalopathy, 431 test
Developmental and epileptic encephalopathy, 441 test
Developmental and epileptic encephalopathy, 471 test
Developmental and epileptic encephalopathy, 481 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 501 test
Developmental and epileptic encephalopathy, 511 test
Developmental and epileptic encephalopathy, 521 test
Developmental and epileptic encephalopathy, 531 test
Developmental and epileptic encephalopathy, 541 test
Developmental and epileptic encephalopathy, 581 test
Developmental and epileptic encephalopathy, 591 test
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 741 test
Developmental and epileptic encephalopathy, 771 test
Developmental and epileptic encephalopathy, 81 test
Developmental and epileptic encephalopathy, 811 test
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
Developmental and epileptic encephalopathy, 91 test
Developmental delay and seizures with or without movement abnormalities1 test
Diabetes mellitus, permanent neonatal 21 test
Diamond-Blackfan anemia1 test
Diastrophic dysplasia2 tests
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
Dihydropteridine reductase deficiency1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1D2 tests
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1I1 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 1X2 tests
Dilated cardiomyopathy 1Y2 tests
Dilated cardiomyopathy 1Z2 tests
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 3B1 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
Doxepin response1 test
Drug metabolism or response3 tests
Duchenne muscular dystrophy5 tests
Dyskeratosis congenita, X-linked1 test
Dyskeratosis congenita, autosomal dominant 11 test
Dyskeratosis congenita, autosomal dominant 61 test
Dyskeratosis congenita, autosomal recessive 11 test
Dyskeratosis congenita, autosomal recessive 31 test
Dyskeratosis congenita, autosomal recessive 51 test
Dyskeratosis congenita, autosomal recessive 61 test
Early-onset myopathy with fatal cardiomyopathy1 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
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12 tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Epilepsy, early-onset, vitamin B6-dependent1 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial focal, with variable foci 21 test
Epilepsy, familial focal, with variable foci 31 test
Epilepsy, familial focal, with variable foci 41 test
Epilepsy, familial temporal lobe, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 101 test
Epilepsy, idiopathic generalized, susceptibility to, 141 test
Epilepsy, idiopathic generalized, susceptibility to, 151 test
Epilepsy, idiopathic generalized, susceptibility to, 161 test
Epilepsy, progressive myoclonic, 2b1 test
Epileptic encephalopathy, infantile or early childhood, 21 test
Epiphyseal dysplasia, multiple, 31 test
Episodic ataxia type 11 test
Erythrocyte Alloimmunization1 test
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Escitalopram response1 test
Fabry disease2 tests
Familial Mediterranean fever1 test
Familial Periodic Fever1 test
Familial adenomatous polyposis 13 tests
Familial adenomatous polyposis 23 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial aplasia of the vermis1 test
Familial atrial fibrillation1 test
Familial atrial myxoma2 tests
Familial cancer of breast7 tests
Familial cold autoinflammatory syndrome1 test
Familial cold autoinflammatory syndrome 31 test
Familial colorectal cancer2 tests
Familial dysautonomia3 tests
Familial encephalopathy with neuroserpin inclusion bodies1 test
Familial hemolytic anemia1 test
Familial hypercholesterolemia1 test
Familial hyperinsulinism1 test
Familial medullary thyroid carcinoma3 tests
Familial meningioma1 test
Familial multiple polyposis syndrome3 tests
Familial pulmonary capillary hemangiomatosis1 test
Familial type 3 hyperlipoproteinemia1 test
Fanconi anemia2 tests
Fanconi anemia complementation group C2 tests
Fanconi anemia complementation group J1 test
Fanconi anemia complementation group N1 test
Fanconi anemia complementation group O2 tests
Fanconi anemia complementation group P1 test
Fanconi anemia complementation group Q1 test
Fanconi anemia complementation group T1 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 dysplasia2 tests
Frontometaphyseal dysplasia 11 test
Fructose-biphosphatase deficiency1 test
G6PD deficiency2 tests
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
GM3 synthase deficiency1 test
Galactosemia3 tests
Galactosylceramide beta-galactosidase deficiency1 test
Gamma-aminobutyric acid transaminase deficiency1 test
Gardner syndrome1 test
Gaucher disease3 tests
Gaucher disease due to saposin C deficiency1 test
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 epilepsy with febrile seizures plus, type 101 test
Generalized epilepsy with febrile seizures plus, type 91 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 IIIa2 tests
Glycogen storage disease IIIb2 tests
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 II3 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 disease2 tests
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED2 tests
Hb SS disease1 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 syndrome4 tests
Hereditary cancer-predisposing syndrome3 tests
Hereditary diffuse gastric adenocarcinoma6 tests
Hereditary disease4 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 cancer2 tests
Hereditary liability to pressure palsies2 tests
Hereditary lymphedema type I1 test
Hereditary motor and sensory neuropathy1 test
Hereditary neutrophilia1 test
Hereditary nonpolyposis colon cancer4 tests
Hereditary pheochromocytoma-paraganglioma5 tests
Hereditary retinoblastoma1 test
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 spastic paraplegia 301 test
Hereditary spastic paraplegia 771 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
Hyperekplexia 11 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperlipoproteinemia1 test
Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria1 test
Hyperphosphatasia with intellectual disability syndrome 11 test
Hyperphosphatasia with intellectual disability syndrome 21 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertrophic cardiomyopathy1 test
Hypertrophic cardiomyopathy 12 tests
Hypertrophic cardiomyopathy 102 tests
Hypertrophic cardiomyopathy 112 tests
Hypertrophic cardiomyopathy 122 tests
Hypertrophic cardiomyopathy 132 tests
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 172 tests
Hypertrophic cardiomyopathy 182 tests
Hypertrophic cardiomyopathy 22 tests
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 32 tests
Hypertrophic cardiomyopathy 42 tests
Hypertrophic cardiomyopathy 63 tests
Hypertrophic cardiomyopathy 72 tests
Hypertrophic cardiomyopathy 82 tests
Hypertrophic cardiomyopathy 91 test
Hypochondrogenesis2 tests
Hypochondroplasia2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
Hypomagnesemia, seizures, and intellectual disability 21 test
Hypophosphatasia3 tests
Hypophosphatemic rickets, X-linked recessive1 test
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Idiopathic and/or familial pulmonary arterial hypertension1 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, 51 test
Immunodeficiency, common variable, 71 test
Immunoglobulin A deficiency 21 test
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
Infantile hypophosphatasia1 test
Intellectual disability1 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked 1021 test
Intellectual disability, X-linked 491 test
Intellectual disability, X-linked, syndromic, Houge type1 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 151 test
Intellectual disability, autosomal dominant 161 test
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 561 test
Intellectual disability, autosomal recessive 531 test
Intellectual disability-epilepsy-extrapyramidal syndrome1 test
Irinotecan response1 test
Isolated ectopia lentis1 test
Isolated focal cortical dysplasia type II2 tests
Isovaleric acidemia, type I1 test
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 21 test
Jeune thoracic dystrophy2 tests
Joubert syndrome 22 tests
Juvenile myelomonocytic leukemia1 test
Juvenile polyposis syndrome3 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
KBG syndrome1 test
Ketoacidosis due to monocarboxylate transporter-1 deficiency1 test
Kleefstra syndrome 11 test
Kniest dysplasia2 tests
Koolen-de Vries syndrome1 test
Kostmann syndrome1 test
Lafora disease1 test
Landau-Kleffner syndrome1 test
Larsen syndrome2 tests
Left ventricular noncompaction2 tests
Left ventricular noncompaction 101 test
Left ventricular noncompaction 41 test
Legius syndrome2 tests
Lethal Kniest-like syndrome2 tests
Lethal congenital glycogen storage disease of heart1 test
Li-Fraumeni syndrome13 tests
Lissencephaly due to LIS1 mutation1 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Loeys-Dietz syndrome2 tests
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
Long QT syndrome2 tests
Long QT syndrome 11 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 161 test
Long QT syndrome 21 test
Long QT syndrome 31 test
Long QT syndrome 51 test
Long QT syndrome 61 test
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Lorazepam response1 test
Lymphatic malformation 41 test
Lymphatic malformation 61 test
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
Lynch syndrome3 tests
Lynch syndrome 51 test
Lynch syndrome 83 tests
MASS syndrome1 test
MOGS-congenital disorder of glycosylation1 test
MPDU1-congenital disorder of glycosylation1 test
MTHFR THERMOLABILE POLYMORPHISM2 tests
MYH7-related skeletal myopathy1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular dystrophy with central cone involvement1 test
Majeed syndrome1 test
Malignant hyperthermia of anesthesia1 test
Maple syrup urine disease type 1B3 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
Melanoma and neural system tumor syndrome2 tests
Melanoma, cutaneous malignant, susceptibility to, 32 tests
Melanoma, cutaneous malignant, susceptibility to, 51 test
Melanoma, cutaneous malignant, susceptibility to, 81 test
Metabolic myopathy due to lactate transporter defect1 test
Metaphyseal chondrodysplasia, McKusick type1 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, seizures, and developmental delay1 test
Microcephaly-capillary malformation syndrome1 test
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Mild hemophilia A1 test
Mismatch repair cancer syndrome 11 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
Monosomy 7 myelodysplasia and leukemia syndrome 11 test
Monosomy 7 myelodysplasia and leukemia syndrome 21 test
Morphine response1 test
Mowat-Wilson syndrome1 test
Mucolipidosis type IV2 tests
Muir-Torré syndrome1 test
Multiple acyl-CoA dehydrogenase deficiency1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 17 tests
Multiple endocrine neoplasia, type 21 test
Muscular dystrophy, congenital, with or without seizures1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Myelodysplastic syndrome2 tests
Myocardial infarction 11 test
Myoclonic-astatic epilepsy1 test
Myofibrillar myopathy 41 test
Myopathy with abnormal lipid metabolism1 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myotonic dystrophy1 test
NAFLD11 test
NDE1-related microhydranencephaly1 test
Narcolepsy 11 test
Naxos disease1 test
Nemaline myopathy 22 tests
Neonatal diabetes mellitus1 test
Neonatal-onset encephalopathy with rigidity and seizures1 test
Nephronophthisis1 test
Neu-Laxova syndrome 11 test
Neuroblastoma1 test
Neuroblastoma, susceptibility to, 31 test
Neurodegeneration with brain iron accumulation 51 test
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1 test
Neurodevelopmental disorder with epilepsy and hemochromatosis1 test
Neurodevelopmental disorder with hypotonia, seizures, and absent language1 test
Neurofibromatosis, type 14 tests
Neurofibromatosis, type 22 tests
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neuronopathy, distal hereditary motor1 test
Neuropathy, hereditary sensory, type 1D1 test
Neutropenia, severe congenital, 1, autosomal dominant1 test
Neutropenia, severe congenital, 2, autosomal dominant1 test
Nevirapine response1 test
Niemann-Pick disease, type A2 tests
Non-ketotic hyperglycinemia1 test
Non-syndromic X-linked intellectual disability1 test
Noonan syndrome2 tests
Noonan syndrome 101 test
Noonan syndrome with multiple lentigines1 test
Noonan syndrome-like disorder with loose anagen hair1 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-congenital disorder of glycosylation1 test
PMM2-congenital disorder of glycosylation1 test
PTEN hamartoma tumor syndrome9 tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1 test
Pallister-Hall syndrome1 test
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1 test
Pancytopenia due to IKZF1 mutations1 test
Pancytopenia-developmental delay syndrome1 test
Paragangliomas 11 test
Paragangliomas 21 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 51 test
Parastremmatic dwarfism2 tests
Parkes Weber syndrome2 tests
Patterned macular dystrophy 21 test
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Periventricular nodular heterotopia 71 test
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 10A (Zellweger)1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Perrault syndrome1 test
Perry syndrome1 test
Peutz-Jeghers syndrome5 tests
Pheochromocytoma2 tests
Phytanic acid storage disease1 test
Pierpont syndrome1 test
Platyspondylic dysplasia, Torrance type2 tests
Pleuropulmonary blastoma2 tests
Poikiloderma with neutropenia1 test
Polyglucosan body myopathy1 test
Polyglucosan body myopathy type 11 test
Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
Pontocerebellar hypoplasia type 2A1 test
Prader-Willi syndrome2 tests
Primary ciliary dyskinesia2 tests
Primary dilated cardiomyopathy2 tests
Primary familial hypertrophic cardiomyopathy2 tests
Primary familial polycythemia due to EPO receptor mutation1 test
Primary hyperoxaluria1 test
Primary intraosseous venous malformation1 test
Primary pulmonary hypertension2 tests
Primary pulmonary hypoplasia1 test
Prion disease1 test
Progressive familial heart block, type 1A1 test
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 71 test
Propionic acidemia1 test
Prostate cancer, hereditary, 91 test
Proteus syndrome2 tests
Proteus-like syndrome1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
Pseudohypoaldosteronism type 2D1 test
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
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyropoikilocytosis, hereditary2 tests
Pyruvate dehydrogenase E3 deficiency3 tests
Pyruvate kinase deficiency of red cells2 tests
Qualitative or quantitative defects of dystrophin4 tests
Quetiapine response1 test
RASopathy1 test
RFT1-congenital disorder of glycosylation1 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
Renal carnitine transport defect1 test
Renal cell carcinoma2 tests
Retinal dystrophy with leukodystrophy1 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Retinitis pigmentosa with or without situs inversus1 test
Retinoblastoma3 tests
Rett syndrome, congenital variant1 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
Risperidone response1 test
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1 test
Rotor syndrome2 tests
Russell-Silver syndrome1 test
SLC35A2-congenital disorder of glycosylation1 test
SUDDEN INFANT DEATH SYNDROME1 test
Schinzel-Giedion syndrome1 test
Schizophrenia1 test
Schneckenbecken dysplasia2 tests
Schuurs-Hoeijmakers syndrome1 test
Schwartz-Jampel syndrome2 tests
Seizures, benign familial infantile, 21 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial neonatal, 21 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
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 syndrome2 tests
Short QT syndrome type 11 test
Short QT syndrome type 21 test
Short QT syndrome type 31 test
Short stature due to partial GHR deficiency1 test
Short-rib thoracic dysplasia 6 with or without polydactyly2 tests
Shprintzen-Goldberg syndrome2 tests
Sialidosis type 21 test
Sick sinus syndrome 11 test
Sick sinus syndrome 2, autosomal dominant1 test
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Skeletal dysplasia2 tests
Spastic paraplegia-severe developmental delay-epilepsy syndrome1 test
Spermatogenic failure, Y-linked, 21 test
Spinal muscular atrophy4 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
Spondylocarpotarsal synostosis syndrome2 tests
Spondylocostal dysostosis2 tests
Spondyloepiphyseal dysplasia2 tests
Spondyloperipheral dysplasia2 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
Succinate-semialdehyde dehydrogenase deficiency1 test
Succinyl-CoA acetoacetate transferase deficiency1 test
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Syndromic X-linked intellectual disability 941 test
Syndromic X-linked intellectual disability Claes-Jensen type1 test
Syndromic X-linked intellectual disability Snyder type1 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
Temple-Baraitser syndrome1 test
Temtamy syndrome1 test
Terminal osseous dysplasia-pigmentary defects syndrome2 tests
Thanatophoric dysplasia type 12 tests
Thanatophoric dysplasia, type 22 tests
Thiopurine response1 test
Thrombocytopenia 11 test
Thrombocytopenia 21 test
Thrombophilia3 tests
Thrombophilia due to activated protein C resistance2 tests
Thrombophilia due to factor V Leiden2 tests
Thrombophilia due to thrombin defect3 tests
Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
Timothy syndrome1 test
Transcobalamin II deficiency1 test
Transcription level of plasminogen activator inhibitor 11 test
Triosephosphate isomerase deficiency2 tests
Tuberous sclerosis 15 tests
Tuberous sclerosis 25 tests
Tuberous sclerosis syndrome3 tests
Tumor predisposition syndrome 21 test
Tumor predisposition syndrome 32 tests
Type II Collagenopathies2 tests
Unverricht-Lundborg syndrome1 test
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 syndrome3 tests
WHIM syndrome 11 test
Wagner syndrome1 test
Warfarin response1 test
Weill-Marchesani syndrome 2, dominant1 test
Wilson disease1 test
Wolff-Parkinson-White pattern2 tests
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked agammaglobulinemia1 test
X-linked distal spinal muscular atrophy type 31 test
X-linked erythropoietic protoporphyria1 test
X-linked intellectual disability Cabezas type1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked lymphoproliferative disease due to XIAP deficiency1 test
Xerocytosis2 tests
Zellweger spectrum disorders1 test
alpha Thalassemia3 tests
beta Thalassemia3 tests
chronic recurrent pancreatitis1 test
von Willebrand disorder1 test