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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
A2ML11Jan 24, 2024
AARS129Jan 24, 2024
ABCA22Jan 4, 2022
ABCA31Jan 24, 2024
ABCA447Jan 24, 2024
ABCB61Dec 11, 2020
ABCB73Jan 24, 2024
ABCC822Jan 24, 2024
ABCC930Jan 24, 2024
ABCD135Jan 4, 2022
ABCD32Jan 24, 2024
ABCD46Jan 24, 2024
ABLIM31Jan 24, 2024
ACACA1Aug 5, 2019
ACACB2Jan 6, 2023
ACAD111Jan 24, 2024
ACAD95Jan 24, 2024
ACADL3Jan 24, 2024
ACADM90Jan 24, 2024
ACADS5Jan 24, 2024
ACADVL147Jan 24, 2024
ACAT17Jan 24, 2024
ACBD51Jan 24, 2024
ACD1Dec 11, 2020
ACOT71Jan 24, 2024
ACOX21Jan 24, 2024
ACOX32Dec 11, 2020
ACSF310Jan 24, 2024
ACTA11Aug 5, 2019
ACTA210Jan 24, 2024
ACTA2-AS12Jan 24, 2024
ACTC13Jan 24, 2024
ACTG19Jan 24, 2024
ACTN214Jan 24, 2024
ACVRL1129Jan 24, 2024
ADA13Jan 24, 2024
ADA26Jan 24, 2024
ADAMTSL11Dec 11, 2020
ADGRV167Jan 24, 2024
ADK3Jan 24, 2024
AFF21Jan 6, 2023
AFF41Jan 4, 2022
AFG2B1Jan 24, 2024
AFG3L21Jan 24, 2024
AGL31Jan 24, 2024
AGPS17Jan 24, 2024
AGXT1Jan 24, 2024
AHCY1Jan 24, 2024
AHI12Jan 24, 2024
AHNAK21Dec 11, 2020
AICDA5Jan 24, 2024
AIFM17Jan 24, 2024
AIPL19Jan 24, 2024
AK118Jan 24, 2024
AKAP937Jan 24, 2024
AKT16Jan 24, 2024
ALDH3A21Jan 6, 2023
ALDH7A11Jan 24, 2024
ALDOA16Jan 24, 2024
ALDOB2Jan 24, 2024
ALG12Jan 24, 2024
ALG113Jan 24, 2024
ALK30Jan 24, 2024
ALMS132Jan 24, 2024
ALPK322Jan 24, 2024
ALPL34Jan 24, 2024
ALS25Jan 24, 2024
AMACR2Jan 24, 2024
AMN10Jan 24, 2024
AMT1Jan 4, 2022
ANAPC151Jan 24, 2024
ANK1175Jan 24, 2024
ANK271Jan 24, 2024
ANK31Jan 24, 2024
ANKRD18Jan 24, 2024
ANKRD113Jan 24, 2024
ANKRD241Jan 4, 2022
ANKRD2616Jan 24, 2024
ANKS63Jan 6, 2023
ANO511Jan 24, 2024
ANXA61Jan 24, 2024
AOPEP1Jun 30, 2017
APC126Jan 24, 2024
APC21Jan 24, 2024
APOB89Jan 24, 2024
APOM1Jan 24, 2024
APP6Jan 24, 2024
APPL16Jan 24, 2024
APTX7Jan 24, 2024
AR1Jan 24, 2024
ARCN11Jan 15, 2020
AREL11Jan 24, 2024
ARF11Mar 9, 2022
ARFGEF12Jan 24, 2024
ARFGEF21Aug 5, 2019
ARHGAP271Dec 11, 2020
ARHGAP41Jan 24, 2024
ARHGEF1014Jan 24, 2024
ARID1A1Jan 24, 2024
ARID1B1Jan 24, 2024
ARL6IP61Dec 11, 2020
ARRDC21Jan 24, 2024
ARSL15Jan 24, 2024
ART11Jan 24, 2024
ASAH11Jan 6, 2023
ASB111Dec 11, 2020
ASB141Jan 24, 2024
ASB161Dec 11, 2020
ASB16-AS11Dec 11, 2020
ASL1Jan 24, 2024
ASS119Jan 24, 2024
ASTE11Jan 24, 2024
ATAD11Jan 6, 2023
ATF7IP21Dec 11, 2020
ATL19Jan 24, 2024
ATM126Jan 24, 2024
ATN11Jan 24, 2024
ATP13A21Dec 11, 2020
ATP1A21Jan 24, 2024
ATP2B31Jan 24, 2024
ATP6V0A12Jan 24, 2024
ATP7A16Jan 24, 2024
ATP7B176Jan 24, 2024
ATP8A21Dec 11, 2020
ATPAF25Jan 24, 2024
ATR22Jan 24, 2024
ATRX3Jan 24, 2024
ATXN7L3-AS11Jan 4, 2022
AVPR21Jan 24, 2024
AXIN231Jan 24, 2024
B3GALT11Dec 11, 2020
B3GALT1-AS11Dec 11, 2020
B3GALT61Dec 11, 2020
BAG326Jan 24, 2024
BAP110Jan 24, 2024
BARD122Jan 24, 2024
BCAR32Dec 11, 2020
BCHE2Jan 24, 2024
BCKDHA5Jan 24, 2024
BCKDHB1Oct 10, 2018
BCS1L1Jan 24, 2024
BEST18Jan 24, 2024
BEST31Jan 24, 2024
BGN9Jan 24, 2024
BICD217Jan 24, 2024
BLK12Jan 24, 2024
BLM11Jan 24, 2024
BLNK8Jan 24, 2024
BMP18Jan 24, 2024
BMPR1A15Jan 24, 2024
BMPR244Jan 24, 2024
BPGM1Jan 24, 2024
BPTF1Jan 4, 2022
BRAF18Jan 24, 2024
BRAT11Jan 4, 2022
BRCA1287Jan 24, 2024
BRCA2514Jan 24, 2024
BRIP139Jan 24, 2024
BSCL29Jan 24, 2024
BTD23Jan 24, 2024
BTK11Jan 24, 2024
C10orf1055Jan 24, 2024
C10orf621Jan 24, 2024
C11orf6538Jan 24, 2024
C1QTNF3-AMACR2Jan 24, 2024
C3orf801Jan 24, 2024
C63Jan 24, 2024
C71Jan 24, 2024
CA46Jan 24, 2024
CACNA1A6Jan 24, 2024
CACNA1B1Jan 24, 2024
CACNA1C63Jan 24, 2024
CACNA1C-AS126Jan 24, 2024
CACNA1C-AS22Jan 24, 2024
CACNA1D1Jan 24, 2024
CACNA1E2Jan 24, 2024
CACNA1H3Jan 24, 2024
CACNA1S19Jan 24, 2024
CACNA2D21Jan 24, 2024
CACNB218Jan 24, 2024
CAD2Jan 24, 2024
CADM11Jan 24, 2024
CALM11Jan 24, 2024
CALM33Jan 24, 2024
CAMK2D1Aug 5, 2019
CANT18Jan 24, 2024
CARD1112Jan 24, 2024
CARD11-AS11Dec 11, 2020
CARD142Dec 11, 2020
CASK1Oct 10, 2018
CASQ29Jan 24, 2024
CASR4Jan 24, 2024
CAV17Jan 24, 2024
CAV37Jan 24, 2024
CBL25Jan 24, 2024
CBLIF6Jan 24, 2024
CBS50Jan 24, 2024
CC2D1A3Jan 24, 2024
CCBE16Jan 24, 2024
CCDC1701Dec 11, 2020
CCDC3910Jan 24, 2024
CCDC4017Jan 24, 2024
CCDC502Oct 10, 2018
CCDC621Jan 6, 2023
CCDC654Jan 24, 2024
CCM217Jan 24, 2024
CCN62Jan 24, 2024
CCNH33Jan 24, 2024
CCNO1Jan 24, 2024
CCT58Jan 24, 2024
CD1910Jan 24, 2024
CD272Jan 24, 2024
CD27-AS12Jan 24, 2024
CD3203Jan 24, 2024
CD408Jan 24, 2024
CD40LG7Jan 24, 2024
CD79A3Jan 24, 2024
CD813Jan 24, 2024
CDAN187Jan 24, 2024
CDCA73Jan 24, 2024
CDCA7L2Jan 24, 2024
CDH148Jan 24, 2024
CDH2346Jan 24, 2024
CDH23-AS12Jan 24, 2024
CDHR19Jan 24, 2024
CDK131Jan 24, 2024
CDK201Dec 11, 2020
CDK42Jan 24, 2024
CDK5RAP21Aug 5, 2019
CDKN1B5Jan 24, 2024
CDKN2A8Jan 24, 2024
CDON10Jan 24, 2024
CEACAM167Jan 24, 2024
CEACAM16-AS17Jan 24, 2024
CEBPA5Jan 24, 2024
CEL6Jan 24, 2024
CEP29021Jan 24, 2024
CEP85L4Jan 24, 2024
CERKL4Jan 24, 2024
CFAP2984Jan 24, 2024
CFAP298-TCP10L4Jan 24, 2024
CFAP4183Jan 24, 2024
CFAP418-AS11Jan 24, 2024
CFAP471Dec 11, 2020
CFAP531Dec 11, 2020
CFAP921Oct 10, 2018
CFTR420Jan 24, 2024
CFTR-AS149Jan 24, 2024
CHD21Jan 6, 2023
CHD31Jan 4, 2022
CHD61Dec 11, 2020
CHD733Jan 24, 2024
CHD81Aug 5, 2019
CHEK224Jan 24, 2024
CHKA2Jan 24, 2024
CHM2Jan 24, 2024
CHRNA43Jan 24, 2024
CHRNA91Dec 11, 2020
CHRNG1Oct 10, 2018
CHST141Jan 4, 2022
CHUK1Aug 5, 2019
CHURC1-FNTB1Jan 24, 2024
CILK113Jan 24, 2024
CLCN52Jan 24, 2024
CLDN142Jan 24, 2024
CLDN14-AS12Jan 24, 2024
CLDN21Dec 11, 2020
CLK11Jan 4, 2022
CLN51Jan 24, 2024
CLN64Jan 24, 2024
CLRN12Aug 5, 2019
CLRN1-AS11Aug 5, 2019
CLTC1Aug 5, 2019
CNGA13Jan 24, 2024
CNGB119Jan 24, 2024
CNTNAP11Jan 6, 2023
COA32Jan 24, 2024
COBL1Jan 24, 2024
COCH6Jan 24, 2024
COG21Jan 24, 2024
COL10A13Jan 24, 2024
COL11A118Jan 24, 2024
COL11A231Jan 24, 2024
COL12A12Jan 6, 2023
COL1A1122Jan 24, 2024
COL1A279Jan 24, 2024
COL1A2-AS11Jan 24, 2024
COL25A11Jan 4, 2022
COL2A190Jan 24, 2024
COL3A172Jan 24, 2024
COL4A12Jan 24, 2024
COL4A317Jan 24, 2024
COL4A48Jan 24, 2024
COL4A531Jan 24, 2024
COL5A1139Jan 24, 2024
COL5A283Jan 24, 2024
COL6A11Dec 11, 2020
COL6A25Jan 4, 2022
COL6A51Jan 24, 2024
COL8A11Dec 11, 2020
COL9A11Dec 11, 2020
COL9A24Jan 24, 2024
COL9A39Jan 24, 2024
COMP22Jan 24, 2024
COQ25Jan 24, 2024
COQ8A6Jan 24, 2024
COQ94Jan 24, 2024
CORIN5Aug 5, 2019
COX103Jan 24, 2024
COX153Aug 5, 2019
COX4I22Jan 6, 2023
CPS11Jan 24, 2024
CPSF31Jan 4, 2022
CPT1A17Jan 24, 2024
CPT215Jan 24, 2024
CPZ1Jan 4, 2022
CR12Jan 24, 2024
CR218Jan 24, 2024
CRB114Jan 24, 2024
CREB3L16Jan 24, 2024
CRIPTO1Oct 10, 2018
CRTAP16Jan 24, 2024
CRX4Jan 24, 2024
CRYAB3Jan 24, 2024
CRYM1Oct 10, 2018
CSRP39Jan 24, 2024
CTC111Jun 30, 2017
CTCF1Aug 5, 2019
CTDP11Jan 24, 2024
CTF12Aug 5, 2019
CTLA42Jan 24, 2024
CTNNA16Jan 24, 2024
CTNS2Jan 24, 2024
CTRC85Jan 24, 2024
CTSE1Jan 6, 2023
CTSF2Jan 24, 2024
CUBN53Jan 24, 2024
CUL4B1Aug 5, 2019
CUX11Jan 24, 2024
CXCR43Jan 24, 2024
CYB561D21Jan 24, 2024
CYB5R329Jan 24, 2024
CYBB2Dec 11, 2020
CYCS1Jan 24, 2024
CYFIP21Jan 24, 2024
CYGB1Oct 10, 2018
CYLD-AS12Jan 24, 2024
CYP27B13Jan 24, 2024
DARS23Jan 24, 2024
DBNL1Jan 24, 2024
DBT8Jan 24, 2024
DCHS13Dec 11, 2020
DCLRE1C12Jan 24, 2024
DCP21Dec 11, 2020
DCTN124Jan 24, 2024
DDOST2Jan 24, 2024
DDR218Jan 24, 2024
DDX413Apr 30, 2022
DDX521Dec 11, 2020
DEAF11Dec 11, 2020
DENND4C1Jan 24, 2024
DEPDC52Jan 24, 2024
DES14Jan 24, 2024
DGUOK3Jan 24, 2024
DHCR732Jan 6, 2023
DHFR9Jan 24, 2024
DHRS4L11Dec 11, 2020
DHTKD126Jan 24, 2024
DIAPH14Jan 24, 2024
DIAPH31Jan 24, 2024
DICER146Jan 24, 2024
DIPK1A1Jun 30, 2017
DISP118Jan 24, 2024
DKC11Jun 30, 2017
DLAT4Jan 24, 2024
DLD5Jan 24, 2024
DLG44Jan 24, 2024
DLL335Jan 24, 2024
DMD189Jan 24, 2024
DMXL22Jan 24, 2024
DNAAF110Jan 24, 2024
DNAAF116Jan 24, 2024
DNAAF25Jan 24, 2024
DNAAF37Jan 24, 2024
DNAAF3-AS16Jan 24, 2024
DNAAF42Jan 24, 2024
DNAAF4-CCPG12Jan 24, 2024
DNAAF55Jan 24, 2024
DNAH149Jan 24, 2024
DNAH1148Jan 24, 2024
DNAH141Jan 24, 2024
DNAH537Jan 24, 2024
DNAI14Jan 24, 2024
DNAI25Jan 24, 2024
DNAJB26Jan 24, 2024
DNAJB61Jan 24, 2024
DNAL12Jan 24, 2024
DNASE11Dec 11, 2020
DNM1L3Jan 24, 2024
DNM222Jan 24, 2024
DNMT141Jan 24, 2024
DNMT3B10Jan 24, 2024
DOK71Jan 24, 2024
DOLK2Jan 24, 2024
DPYSL51Jan 4, 2022
DRC16Jan 24, 2024
DRD21Dec 11, 2020
DRP21Dec 11, 2020
DSC213Jan 24, 2024
DSCAS1Aug 5, 2019
DSG234Jan 24, 2024
DSG2-AS113Jan 24, 2024
DSP69Jan 24, 2024
DSP-AS12Jan 24, 2024
DSPP13Jan 24, 2024
DTNA15Jan 24, 2024
DUSP294Jan 24, 2024
DVL21Dec 11, 2020
DYM3Jan 24, 2024
DYNC1H151Jan 24, 2024
DYNC2H1138Jan 24, 2024
DYNC2I21Jan 24, 2024
DYRK1A1Jan 24, 2024
DYSF1Dec 11, 2020
EAPP1Dec 11, 2020
EBP7Jan 24, 2024
ECEL12Jan 6, 2023
ECHS14Jan 24, 2024
EDA3Jan 24, 2024
EDAR2Jan 24, 2024
EDARADD4Jan 24, 2024
EFCC11Jan 24, 2024
EFEMP222Jan 24, 2024
EFHC12Dec 11, 2020
EFTUD21Jan 24, 2024
EGFR6Jan 24, 2024
EGLN14Jan 24, 2024
EGR210Jan 24, 2024
EHBP1L12Jan 4, 2022
EHMT11Jan 24, 2024
EIF2AK34Jan 24, 2024
EIF2AK449Jan 24, 2024
EIF3D1Jan 24, 2024
ELAC21Dec 11, 2020
ELANE24Jan 24, 2024
ELMO11Jan 24, 2024
ELMO23Jan 24, 2024
ELMO31Jan 6, 2023
ELP132Jan 24, 2024
EMD5Jan 24, 2024
EML61Dec 11, 2020
ENG139Jan 24, 2024
ENO36Jan 24, 2024
EP3003Jan 24, 2024
EPAS112Jan 24, 2024
EPB4129Jan 24, 2024
EPB4241Jan 24, 2024
EPHB447Jan 24, 2024
EPM2A2Jan 24, 2024
EPM2A-DT2Jan 24, 2024
EPOR4Jan 24, 2024
EPPK11Dec 11, 2020
ERCC63Dec 11, 2020
ERCC81Jan 24, 2024
ERMARD1Dec 11, 2020
ESPN10Jan 24, 2024
ESRRB5Jan 24, 2024
ETFA3Jan 24, 2024
ETFB3Jan 24, 2024
ETFDH5Jan 24, 2024
ETHE11Jan 24, 2024
ETV61Jan 24, 2024
EVC54Jan 24, 2024
EVC276Jan 24, 2024
EVI2A1Jan 6, 2023
EXD31Aug 5, 2019
EXT21Dec 11, 2020
EYA410Jan 24, 2024
EYS24Jan 24, 2024
F111Dec 11, 2020
F8275Jan 24, 2024
F981Jan 4, 2022
FAM120C1Jan 4, 2022
FAM161A2Aug 5, 2019
FAM83B1Jan 24, 2024
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
FAR11Jan 24, 2024
FARS21Dec 11, 2020
FASN1Jan 4, 2022
FASTKD23Jan 24, 2024
FAT11Jan 24, 2024
FAT435Jan 24, 2024
FBLN511Jan 24, 2024
FBN1251Jan 24, 2024
FBN2149Jan 24, 2024
FBN32Jan 4, 2022
FBP11Jan 24, 2024
FBXL31Jan 24, 2024
FBXL41Jan 24, 2024
FBXO391Jan 24, 2024
FBXO411Aug 5, 2019
FGD415Jan 24, 2024
FGF83Jan 24, 2024
FGFR122Jan 24, 2024
FGFR221Jan 24, 2024
FGFR356Jan 24, 2024
FH12Jan 24, 2024
FHL19Jan 24, 2024
FIG418Jan 24, 2024
FKBP1031Jan 24, 2024
FKRP14Jan 24, 2024
FKTN13Jan 24, 2024
FLCN38Jan 24, 2024
FLNA151Jan 24, 2024
FLNB101Jan 24, 2024
FLNB-AS13Dec 11, 2020
FLNC36Jan 24, 2024
FLNC-AS110Jan 24, 2024
FLT421Jan 24, 2024
FNBP1L1Dec 11, 2020
FNTB1Jan 24, 2024
FOXC26Jan 24, 2024
FOXC2-AS13Jan 24, 2024
FOXE36Jan 24, 2024
FOXG11Jan 24, 2024
FOXH15Jan 24, 2024
FOXL31Jan 4, 2022
FOXN12Jun 30, 2017
FOXO41Dec 11, 2020
FOXP32Jan 24, 2024
FPGT-TNNI3K4Jan 24, 2024
FSCN24Jan 24, 2024
FTH11Jan 24, 2024
FXN5Jan 24, 2024
G6PC14Jan 24, 2024
G6PD66Jan 24, 2024
GAA49Jan 24, 2024
GABBR22Jan 24, 2024
GABRA31Dec 11, 2020
GABRB32Jan 24, 2024
GABRD1Jan 24, 2024
GAL3ST31Dec 11, 2020
GAL3ST41Dec 11, 2020
GALC1Jun 30, 2017
GALNS1Jan 24, 2024
GALT55Jan 24, 2024
GAMT3Jan 4, 2022
GAN10Jan 24, 2024
GAREM28Jan 24, 2024
GARS118Jan 24, 2024
GAS82Jan 24, 2024
GATA29Jan 24, 2024
GATA46Jan 24, 2024
GATA65Jan 24, 2024
GATAD13Jan 24, 2024
GATM2Dec 11, 2020
GBA112Jan 24, 2024
GBE16Jan 24, 2024
GCK18Jan 24, 2024
GCLC37Jan 24, 2024
GCLC-AS115Jan 24, 2024
GDAP15Jan 24, 2024
GDF214Jan 24, 2024
GDF58Jan 24, 2024
GDF5-AS13Jan 6, 2023
GFAP3Jan 24, 2024
GFER1Jan 24, 2024
GFM16Jan 24, 2024
GH-LCR2Jan 6, 2023
GIPC31Aug 5, 2019
GJB111Jan 24, 2024
GJB263Jan 24, 2024
GJB38Jan 24, 2024
GJB61Jan 24, 2024
GJC27Jan 24, 2024
GJD2-DT3Jan 24, 2024
GLA8Jan 24, 2024
GLB11Jan 24, 2024
GLDC1Jan 24, 2024
GLI223Jan 24, 2024
GLI39Jan 24, 2024
GLMN11Jan 24, 2024
GLRA11Jan 4, 2022
GNB46Jan 24, 2024
GNPAT23Jan 24, 2024
GNPTAB1Jan 24, 2024
GORAB3Jan 24, 2024
GOSR21Jan 24, 2024
GP1BA3Jan 4, 2022
GP61Oct 10, 2018
GPATCH81Jan 24, 2024
GPD1L4Jan 24, 2024
GPHN2Jan 24, 2024
GPI30Jan 24, 2024
GPR191Jan 24, 2024
GPSM26Jan 24, 2024
GPT21Jan 24, 2024
GREM21Jan 24, 2024
GRHL22Jan 24, 2024
GRIA31Jan 24, 2024
GRID21Jan 24, 2024
GRIN2A2Jan 24, 2024
GRIN2B2Jan 24, 2024
GSDME3Jan 24, 2024
GSR27Jan 24, 2024
GSS25Jan 24, 2024
GTPBP11Jan 24, 2024
GUCA1B1Aug 5, 2019
GUCY2D16Jan 24, 2024
GUSB1Oct 10, 2018
GYG13Jan 24, 2024
GYS17Jan 24, 2024
GYS26Jan 24, 2024
HACL11Oct 10, 2018
HADH2Jan 6, 2023
HADHA11Jan 24, 2024
HADHB6Jan 24, 2024
HARS113Jan 24, 2024
HARS21Oct 10, 2018
HBA-LCR2Jan 24, 2024
HBA178Jan 24, 2024
HBA2102Jan 24, 2024
HBB228Jan 24, 2024
HBG114Jan 24, 2024
HBG29Jan 24, 2024
HCFC111Jan 24, 2024
HCN47Jan 24, 2024
HDAC41Dec 11, 2020
HELLS6Jan 24, 2024
HERC11Jan 6, 2023
HEXA26Jan 24, 2024
HEXIM21Dec 11, 2020
HFE1Jan 6, 2023
HGSNAT1Jan 24, 2024
HIF1A8Jan 24, 2024
HIF1A-AS37Jan 24, 2024
HINT13Jan 24, 2024
HK154Jan 24, 2024
HMGCS26Jan 24, 2024
HNF1A15Jan 24, 2024
HNF1B3Jan 24, 2024
HNF4A8Jan 24, 2024
HNRNPUL2-BSCL29Jan 24, 2024
HOGA11Jan 24, 2024
HOXD107Jan 24, 2024
HRAS10Jan 24, 2024
HRC1Jan 6, 2023
HSALR1146Jan 24, 2024
HSD17B11Jan 24, 2024
HSD17B410Jan 24, 2024
HSPB110Jan 24, 2024
HSPB33Aug 5, 2019
HSPB87Jan 24, 2024
HSPD12Jan 24, 2024
HSPG2237Jan 24, 2024
HTR2B1Oct 10, 2018
HUWE12Jan 24, 2024
ICAM51Dec 11, 2020
ICOS6Jan 24, 2024
IDH3B1Oct 10, 2018
IDUA2Jan 24, 2024
IFIH11Dec 11, 2020
IFITM54Jan 24, 2024
IFNAR21Dec 11, 2020
IFNAR2-IL10RB1Dec 11, 2020
IFNG1Jan 4, 2022
IFT8020Jan 24, 2024
IGH5Jan 6, 2023
IGHM5Jan 6, 2023
IGHMBP247Jan 24, 2024
IGLL114Jan 24, 2024
IKBKG8Jan 6, 2023
IKZF13Jan 24, 2024
IL21R7Jan 24, 2024
IL21R-AS12Dec 11, 2020
IL7R1Jan 4, 2022
ILDR11Jan 24, 2024
ILF31Dec 11, 2020
ILK3Aug 5, 2019
IMPDH14Aug 5, 2019
IMPG23Dec 11, 2020
INF252Jan 24, 2024
INO808Jan 24, 2024
INO80-AS11Dec 11, 2020
INPPL17Jan 24, 2024
INS3Jan 24, 2024
INS-IGF23Jan 24, 2024
INSL66Jan 24, 2024
INSR36Jan 4, 2022
INSRR1Jan 6, 2023
IPP1Aug 5, 2019
IQSEC21Aug 5, 2019
IRF2BP26Jan 24, 2024
ISCU1Oct 10, 2018
ITGB21Jan 24, 2024
ITPR11Jan 24, 2024
IVD1Jan 6, 2023
JAG11Aug 5, 2019
JAK26Jan 24, 2024
JAK31Jan 24, 2024
JPH216Jan 24, 2024
JUP27Jan 24, 2024
KANSL11Jan 24, 2024
KARS116Jan 24, 2024
KAT2B1Dec 11, 2020
KAT6B9Jan 24, 2024
KAZALD11Jan 4, 2022
KCNA21Jan 24, 2024
KCNA512Jan 24, 2024
KCNC11Jan 24, 2024
KCNE19Jan 24, 2024
KCNE25Jan 24, 2024
KCNE33Jan 24, 2024
KCNH244Jan 24, 2024
KCNJ101Jan 24, 2024
KCNJ117Jan 24, 2024
KCNJ211Jan 24, 2024
KCNK35Jan 24, 2024
KCNK91Jan 24, 2024
KCNQ139Jan 24, 2024
KCNQ1-AS17Jan 24, 2024
KCNQ1OT13Jan 24, 2024
KCNQ23Dec 11, 2020
KCNQ32Jan 24, 2024
KCNQ43Jan 24, 2024
KCNT15Jan 24, 2024
KCP2Dec 11, 2020
KDM4B4Jan 24, 2024
KDM5B2Jan 24, 2024
KDM5C1Jan 24, 2024
KDM6A4Jan 24, 2024
KIAA07532Jun 30, 2017
KIAA12172Jan 24, 2024
KIF1A59Jan 24, 2024
KIF1B31Jan 24, 2024
KIF5A26Jan 24, 2024
KIF71Jan 24, 2024
KIT6Jan 24, 2024
KIZ3Jan 24, 2024
KLF111Jan 24, 2024
KLHL111Jan 24, 2024
KLHL171Jan 24, 2024
KLHL31Oct 10, 2018
KLHL71Jan 24, 2024
KLK141Jan 6, 2023
KLLN4Jan 24, 2024
KLRG11Jan 24, 2024
KMT2B1Jan 24, 2024
KMT2D50Jan 24, 2024
KMT5B1Jan 24, 2024
KPNB1-DT1Jan 4, 2022
KRAS10Jan 24, 2024
KRIT117Jan 24, 2024
L1CAM1Jan 4, 2022
L3MBTL11Jan 6, 2023
LAMA21Jan 24, 2024
LAMA442Jan 24, 2024
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RP94Jan 24, 2024
RPE654Jan 24, 2024
RPGR7Jan 24, 2024
RPGRIP117Jan 24, 2024
RPL36A-HNRNPH28Jan 24, 2024
RPL51Jun 30, 2017
RPS152Jun 30, 2017
RPS191Jun 30, 2017
RPS241Jun 30, 2017
RPS6KA31Oct 10, 2018
RPS71Jun 30, 2017
RRM2B1Jun 30, 2017
RSPH14Jan 24, 2024
RSPH36Jan 24, 2024
RSPH4A4Jan 24, 2024
RSPH91Jan 24, 2024
RUNX13Jan 4, 2022
RUNX212Jan 24, 2024
RYR136Jan 24, 2024
RYR2110Jan 24, 2024
RYR33Jan 24, 2024
SACS1Jan 24, 2024
SAG6Jan 24, 2024
SAMD911Jan 24, 2024
SAMD9L6Jan 24, 2024
SASH11Dec 11, 2020
SBDS6Jun 30, 2017
SBF179Jan 24, 2024
SBF226Jan 24, 2024
SBF2-AS15Jan 24, 2024
SC5D1Aug 5, 2019
SCARB21Jan 4, 2022
SCN10A2Jan 24, 2024
SCN1A-AS132Jan 24, 2024
SCN1B12Jan 24, 2024
SCN2A1Dec 11, 2020
SCN2B1Jan 24, 2024
SCN3A1Dec 11, 2020
SCN3B8Jan 6, 2023
SCN4A3Jan 24, 2024
SCN4B3Jan 4, 2022
SCN5A72Jan 24, 2024
SCN9A37Jan 24, 2024
SCNN1D1Jan 4, 2022
SCO12Jan 24, 2024
SCO26Jan 24, 2024
SDHA34Jan 24, 2024
SDHAF11Oct 10, 2018
SDHB29Jan 24, 2024
SDHC15Jan 24, 2024
SDHD15Jan 24, 2024
SEC23B54Jan 24, 2024
SEC24D8Jan 24, 2024
SECTM11Dec 11, 2020
SEMA4A2Jan 24, 2024
SERPINF15Jan 24, 2024
SERPINH114Jan 24, 2024
SETBP13Jan 24, 2024
SETD52Jan 24, 2024
SETDB11Jan 6, 2023
SETX53Jan 24, 2024
SGCA8Jan 24, 2024
SGCB3Jan 6, 2023
SGCD11Jan 24, 2024
SGCG8Jan 24, 2024
SH2B38Jan 24, 2024
SH3TC230Jan 24, 2024
SHANK21Jan 24, 2024
SHH8Jan 24, 2024
SHOC210Jan 24, 2024
SHOX9Jan 24, 2024
SIX11Jan 6, 2023
SIX36Jan 24, 2024
SKI44Jan 24, 2024
SKIC310Jan 24, 2024
SLC12A21Jan 6, 2023
SLC12A52Jan 24, 2024
SLC12A619Jan 24, 2024
SLC12A95Jan 24, 2024
SLC13A51Jan 24, 2024
SLC16A14Jan 24, 2024
SLC17A51Jun 30, 2017
SLC19A27Jan 24, 2024
SLC1A21Jan 24, 2024
SLC22A542Jan 24, 2024
SLC25A137Jan 24, 2024
SLC25A152Jan 24, 2024
SLC25A193Oct 10, 2018
SLC25A201Jun 30, 2017
SLC25A227Jan 24, 2024
SLC25A31Oct 10, 2018
SLC25A46Jan 24, 2024
SLC26A229Jan 24, 2024
SLC26A430Jan 24, 2024
SLC26A4-AS13Aug 5, 2019
SLC26A54Jan 24, 2024
SLC26A71Jan 4, 2022
SLC2A12Jan 24, 2024
SLC2A1029Jan 24, 2024
SLC2A21Jan 24, 2024
SLC34A11Jan 24, 2024
SLC34A313Jan 24, 2024
SLC35A22Jan 24, 2024
SLC35C11Jan 6, 2023
SLC35D16Jan 24, 2024
SLC36A21Jan 4, 2022
SLC37A45Jan 24, 2024
SLC38A41Jan 24, 2024
SLC38A51Dec 11, 2020
SLC3A17Jan 24, 2024
SLC48A11Jan 6, 2023
SLC4A189Jan 24, 2024
SLC4A101Jan 24, 2024
SLC4A21Jan 6, 2023
SLC52A13Jan 24, 2024
SLC52A21Jan 24, 2024
SLC52A35Jan 24, 2024
SLC5A78Jan 24, 2024
SLC6A11Jan 24, 2024
SLC6A51Jan 24, 2024
SLC6A83Jan 24, 2024
SLC6A91Jan 24, 2024
SLC8A31Jan 4, 2022
SLCO1B142Jan 24, 2024
SLCO1B355Jan 24, 2024
SLCO1B3-SLCO1B755Jan 24, 2024
SLX422Jun 30, 2017
SMAD25Jan 24, 2024
SMAD320Jan 24, 2024
SMAD429Jan 24, 2024
SMAD911Jan 24, 2024
SMARCA433Jan 24, 2024
SMARCAL18Jan 24, 2024
SMARCB110Jan 24, 2024
SMARCE11Jan 24, 2024
SMC1A1Jan 24, 2024
SMC31Jan 4, 2022
SMPD12Jan 24, 2024
SNAP251Oct 27, 2022
SNAPC52Jan 6, 2023
SNHG142Jan 4, 2022
SNRNP20010Jan 24, 2024
SNTA117Jan 24, 2024
SNX226Jan 24, 2024
SNX291Dec 11, 2020
SOD12Jan 6, 2023
SOD1-DT1Jan 6, 2023
SON1Jan 4, 2022
SOS146Jan 24, 2024
SOS224Jan 24, 2024
SOX181Jan 24, 2024
SOX919Jan 24, 2024
SP73Jan 24, 2024
SPAG16Jan 24, 2024
SPAG52Dec 11, 2020
SPARC3Jan 24, 2024
SPATA31G11Dec 11, 2020
SPG78Jan 24, 2024
SPINK135Jan 24, 2024
SPRED19Jan 24, 2024
SPTA1215Jan 24, 2024
SPTAN11Jan 24, 2024
SPTB201Jan 24, 2024
SPTLC111Jan 24, 2024
SPTLC214Jan 24, 2024
SRFBP113Jan 24, 2024
SRMS2Dec 11, 2020
SRP722Jan 24, 2024
SSBP21Dec 11, 2020
SSUH22Jan 24, 2024
ST20-MTHFS1Jan 6, 2023
ST6GALNAC4-ST6GALNAC6-AK118Jan 24, 2024
STAMBP3Jan 24, 2024
STARD92Jan 24, 2024
STAT32Jan 24, 2024
STIM11Jan 6, 2023
STK1123Jan 24, 2024
STRC6Aug 5, 2019
STXBP11Jan 24, 2024
SUCLA25Jan 24, 2024
SUCLG16Jan 24, 2024
SUFU10Jan 24, 2024
SUN21Jan 24, 2024
SUOX5Jan 24, 2024
SUPT3H1Jan 4, 2022
SURF14Jan 6, 2023
SYCE22Dec 11, 2020
SYNE154Jan 24, 2024
SYNE41Jan 4, 2022
SZT23Jan 24, 2024
TAF103Aug 5, 2019
TAF1C1Jan 24, 2024
TAF1L1Jan 24, 2024
TAF41Feb 2, 2022
TAFAZZIN2Jan 24, 2024
TAMM411Dec 11, 2020
TANC21Jan 6, 2023
TARDBP1Jan 24, 2024
TARID3Jan 24, 2024
TAS1R21Dec 11, 2020
TBC1D242Jan 24, 2024
TBCEL-TECTA24Jan 24, 2024
TBCK2Jan 24, 2024
TBR11Jan 6, 2023
TBRG11Dec 11, 2020
TBX201Jan 24, 2024
TBX42Jan 24, 2024
TCAP3Jan 24, 2024
TCEA21Jan 24, 2024
TCF202Jan 24, 2024
TCF317Jan 24, 2024
TCIRG12Jan 4, 2022
TCN15Jan 24, 2024
TCN218Jan 24, 2024
TCP11L21Dec 11, 2020
TCTN21Jan 24, 2024
TDP16Jan 24, 2024
TECTA24Jan 24, 2024
TEK24Jan 24, 2024
TENM41Jan 24, 2024
TERC4Jan 24, 2024
TERT14Jan 24, 2024
TET11Jan 6, 2023
TFE31Jan 4, 2022
TFG13Jan 24, 2024
TGFB218Jan 24, 2024
TGFB316Jan 24, 2024
TGFBR121Jan 24, 2024
TGFBR230Jan 24, 2024
TGIF16Jan 24, 2024
TH1Jan 24, 2024
THBS11Jan 6, 2023
THEMIS21Jan 6, 2023
THSD41Jan 24, 2024
TIAM11Jan 24, 2024
TINF22Jun 30, 2017
TJP21Dec 11, 2020
TK22Dec 11, 2020
TLN22Dec 11, 2020
TMC14Jan 24, 2024
TMEM1272Jan 6, 2023
TMEM261Jan 4, 2022
TMEM38B3Jan 24, 2024
TMEM4317Jan 24, 2024
TMEM701Jan 24, 2024
TMIE2Jan 24, 2024
TMPO5Jan 24, 2024
TMPRSS132Dec 11, 2020
TMPRSS310Jan 24, 2024
TNFAIP327Jan 24, 2024
TNFRSF13B20Jan 24, 2024
TNFRSF13C7Jan 24, 2024
TNFRSF1A31Jan 24, 2024
TNFSF121Apr 30, 2022
TNFSF12-TNFSF131Apr 30, 2022
TNNC12Jan 24, 2024
TNNI22Jan 24, 2024
TNNI38Jan 24, 2024
TNNI3K4Jan 24, 2024
TNNT216Jan 24, 2024
TOE11Jan 24, 2024
TOMT1Jan 24, 2024
TONSL1Jan 4, 2022
TONSL-AS11Jan 4, 2022
TOPORS4Jan 4, 2022
TP5347Jan 24, 2024
TPI118Jan 24, 2024
TPM16Jan 24, 2024
TPO1Jan 24, 2024
TPP11Jan 24, 2024
TPRN8Jan 24, 2024
TRAP11Dec 11, 2020
TRAPPC101Dec 11, 2020
TRAPPC91Jan 6, 2023
TRB47Jan 24, 2024
TRDN21Jan 24, 2024
TRDN-AS11Jan 24, 2024
TRIM210Jan 24, 2024
TRIM59-IFT8020Jan 24, 2024
TRIOBP15Jan 24, 2024
TRIP1163Jan 24, 2024
TRIP41Jan 24, 2024
TRMU10Jan 24, 2024
TRNT12Jan 24, 2024
TRPM31Jan 24, 2024
TRPM436Jan 24, 2024
TRPV458Jan 24, 2024
TRRAP2Jan 6, 2023
TSC135Jan 24, 2024
TSC2128Jan 24, 2024
TSPAN71Jan 24, 2024
TTC144Jan 24, 2024
TTC21B43Jan 24, 2024
TTC21B-AS14Jan 24, 2024
TTC83Aug 5, 2019
TTN740Jan 24, 2024
TTN-AS1378Jan 24, 2024
TTR49Jan 24, 2024
TUBB4A1Dec 11, 2020
TUBB61Jan 24, 2024
TUFM2Jan 24, 2024
TULP110Jan 24, 2024
TWNK4Jan 24, 2024
TYMP6Jan 24, 2024
TYR1Jan 24, 2024
UBE2A1Jun 30, 2017
UBE3A2Jan 4, 2022
UBR41Dec 11, 2020
UBTF1Jan 4, 2022
UFM11Jan 6, 2023
UGT1A95Jan 24, 2024
UGT1A154Jan 24, 2024
UGT1A1095Jan 24, 2024
UGT1A355Jan 24, 2024
UGT1A455Jan 24, 2024
UGT1A555Jan 24, 2024
UGT1A669Jan 24, 2024
UGT1A794Jan 24, 2024
UGT1A895Jan 24, 2024
UGT1A995Jan 24, 2024
UMPS1Jan 24, 2024
UNC5A1Jan 4, 2022
UNC801Jan 24, 2024
UNG3Jan 24, 2024
UPP12Dec 11, 2020
UQCRB1Aug 5, 2019
UQCRQ1Oct 10, 2018
USH1C21Jan 24, 2024
USH1G5Jan 24, 2024
USH2A112Jan 24, 2024
USH2A-AS18Jan 24, 2024
USH2A-AS24Jan 24, 2024
UTP14C1Jan 24, 2024
VANGL12Jan 24, 2024
VARS21Jan 4, 2022
VAV112Jan 24, 2024
VAV21Dec 11, 2020
VCAN4Jan 24, 2024
VCAN-AS13Jan 24, 2024
VCL27Jan 24, 2024
VCP2Jun 30, 2017
VEGFC3Jan 24, 2024
VHL11Jan 24, 2024
VPS13A2Jan 24, 2024
VRK22Jun 30, 2017
VWA11Jan 24, 2024
VWF158Jan 24, 2024
WAC1Aug 5, 2019
WARS22Jan 24, 2024
WASHC41Oct 10, 2018
WDR1938Jan 24, 2024
WDR3529Jan 24, 2024
WDR35-DT1Jan 24, 2024
WFS162Jan 24, 2024
WHRN13Jan 24, 2024
WNK145Jan 24, 2024
WRAP536Jun 30, 2017
WSCD21Jan 24, 2024
WT17Jan 24, 2024
WWOX1Jan 24, 2024
XBP11Aug 5, 2019
XIAP3Jan 24, 2024
XRN11Jan 24, 2024
YARS17Jan 24, 2024
YARS22Jan 24, 2024
ZBTB247Jan 24, 2024
ZDHHC81Jan 4, 2022
ZEB22Jan 24, 2024
ZFP579Jan 24, 2024
ZIC25Jan 24, 2024
ZMYND101Apr 30, 2022
ZNF2762Jun 30, 2017
ZNF4291Jan 24, 2024
ZNF518A3Jan 24, 2024
ZNF518B1Jan 24, 2024
ZNF7111Jan 24, 2024
ZNF7461Jan 24, 2024

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
Hogue-Janssens syndrome 11Jan 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
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
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
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
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 2, autosomal dominant1 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 amyloid neuropathy3 tests
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
Hereditary von Willebrand disease1 test
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, 5