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Genetics and Molecular Pathology (SA Pathology)

General information

Genetics and Molecular Pathology
SA Pathology
Frome Road
Adelaide
South Australia
Australia - 5043
http://www.sapathology.sa.gov.au/wps/wcm/connect/SA+Pathology+Internet+Content+New/Content/Home
Organization ID: 506043

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1853

Gene

GeneSubmissionsLast Updated
ABCA33Dec 11, 2023
ABCA412Dec 14, 2022
ABCB112Dec 14, 2022
ABCB42Dec 11, 2023
ABCC22Dec 11, 2022
ABCC83Dec 11, 2023
ABCC92Dec 14, 2022
ABCD11Dec 11, 2022
ABCD41Dec 11, 2022
ABCG52Dec 11, 2023
ABCG83Dec 11, 2023
ABHD51Dec 14, 2022
ABL11Dec 14, 2022
ACAD91Dec 11, 2022
ACADM2Dec 11, 2023
ACADS2Dec 14, 2022
ACADSB1Dec 11, 2022
ACADVL4Dec 14, 2022
ACAN2Dec 14, 2022
ACBD52Dec 14, 2022
ACSF31Dec 11, 2023
ACTC12Dec 11, 2023
ACTG21Dec 14, 2022
ACVRL16Dec 11, 2023
ADA21Dec 14, 2022
ADAMTS132Dec 14, 2022
ADAMTSL43Dec 14, 2022
ADAMTSL4-AS21Dec 14, 2022
ADCY51Dec 11, 2022
ADGRL11Dec 11, 2023
ADGRL1-AS11Dec 11, 2023
ADGRV14Dec 14, 2022
AFF41Dec 11, 2022
AFG3L21Dec 11, 2023
AGL4Dec 11, 2023
AGO21Dec 14, 2022
AGR21Dec 11, 2023
AGRN1Dec 11, 2022
AHDC11Dec 11, 2023
AHI11Dec 14, 2022
AIPL11Dec 14, 2022
AIRE3Dec 11, 2023
AKT21Dec 14, 2022
ALAS21Dec 11, 2023
ALPL4Dec 11, 2023
ANK11Dec 11, 2023
ANKRD11Dec 11, 2023
ANKRD116Dec 11, 2023
ANKRD171Dec 11, 2023
ANKRD266Dec 11, 2023
ANO102Dec 14, 2022
ANO51Dec 14, 2022
ANTXR11Dec 11, 2023
AP2S12Dec 11, 2023
AP3B11Dec 14, 2022
AP4S11Dec 14, 2022
APC2Dec 11, 2023
APOB4Dec 11, 2023
AR2Dec 14, 2022
ARCN12Dec 11, 2022
ARHGEF182Dec 14, 2022
ARID1A1Dec 11, 2022
ARID1B2Dec 11, 2023
ARL61Dec 11, 2022
ARMC52Dec 14, 2022
ARSL1Dec 11, 2022
ASAH11Dec 11, 2022
ASCC32Dec 11, 2023
ASPM1Dec 11, 2022
ASS12Dec 14, 2022
ATAD3A2Dec 11, 2023
ATM11Dec 11, 2023
ATP1A31Dec 11, 2022
ATP6AP21Dec 11, 2022
ATP7B3Dec 11, 2022
ATP8B12Dec 11, 2022
ATP8B1-AS11Dec 11, 2022
ATRX2Dec 14, 2022
AXDND11Dec 11, 2023
B3GLCT1Dec 11, 2022
BAP14Dec 14, 2022
BBS11Dec 11, 2023
BBS21Dec 14, 2022
BCL11A1Dec 11, 2022
BCORL12Dec 11, 2023
BEST15Dec 14, 2022
BLK1Dec 14, 2022
BMPR1A2Dec 11, 2023
BMPR21Dec 11, 2022
BRCA134Dec 11, 2023
BRCA270Dec 11, 2023
BRD41Dec 14, 2022
BRIP112Dec 14, 2022
BRPF12Dec 11, 2022
BTD2Dec 11, 2023
C11orf656Dec 11, 2023
C12orf601Dec 14, 2022
C17orf1071Dec 11, 2023
C31Dec 14, 2022
C61Dec 11, 2023
CACNA1A4Dec 14, 2022
CACNA1C6Dec 11, 2023
CACNA1C-AS11Dec 11, 2022
CACNA1F4Dec 14, 2022
CACNA1G2Dec 14, 2022
CACNA1I1Dec 11, 2023
CACNA1S1Dec 11, 2023
CARD142Dec 14, 2022
CASR11Dec 11, 2023
CATIP-AS22Dec 11, 2022
CBS3Dec 11, 2023
CCDC1031Dec 14, 2022
CCDC391Dec 11, 2022
CCDC404Dec 14, 2022
CCNO1Dec 11, 2023
CD191Dec 11, 2022
CD361Dec 11, 2022
CD461Dec 11, 2022
CDAN13Dec 14, 2022
CDC732Dec 14, 2022
CDCA7L1Dec 11, 2023
CDH12Dec 11, 2022
CDH21Dec 11, 2023
CDK132Dec 11, 2023
CDKL51Dec 11, 2022
CDKN2A1Dec 11, 2022
CDON1Dec 14, 2022
CEBPA2Dec 11, 2022
CEP2901Dec 14, 2022
CFH1Dec 11, 2022
CFHR51Dec 11, 2023
CFTR8Dec 11, 2023
CFTR-AS11Dec 11, 2023
CHAT1Dec 11, 2023
CHD11Dec 11, 2023
CHD32Dec 11, 2023
CHD41Dec 11, 2023
CHD75Dec 11, 2023
CHD81Dec 11, 2022
CHEK219Dec 11, 2023
CHRNE2Dec 11, 2023
CHST64Dec 14, 2022
CIZ12Dec 11, 2023
CKAP2L1Dec 11, 2023
CLCN11Dec 11, 2022
CLCN41Dec 11, 2022
CLRN11Dec 14, 2022
CLTC1Dec 11, 2023
COL11A12Dec 11, 2022
COL12A11Dec 14, 2022
COL17A11Dec 11, 2023
COL1A14Dec 14, 2022
COL1A21Dec 11, 2022
COL2A16Dec 11, 2023
COL3A16Dec 11, 2023
COL4A12Dec 14, 2022
COL4A21Dec 11, 2022
COL4A33Dec 11, 2023
COL4A42Dec 11, 2023
COL4A55Dec 11, 2023
COL5A12Dec 14, 2022
COL5A22Dec 11, 2023
COL6A11Dec 14, 2022
COL6A22Dec 11, 2023
COL6A32Dec 11, 2023
COL9A12Dec 11, 2023
COPA1Dec 11, 2023
COQ8A1Dec 11, 2022
CPOX1Dec 14, 2022
CPT1A2Dec 14, 2022
CREBBP4Dec 11, 2023
CRELD11Dec 11, 2022
CRX1Dec 11, 2023
CRYAA1Dec 14, 2022
CRYAB1Dec 14, 2022
CRYBA12Dec 14, 2022
CRYBA41Dec 14, 2022
CRYBB11Dec 14, 2022
CRYBB21Dec 14, 2022
CSF1R1Dec 11, 2022
CSNK2A11Dec 11, 2023
CSRP33Dec 11, 2023
CTNNB11Dec 11, 2023
CUX21Dec 14, 2022
CYB5R32Dec 11, 2023
CYLD3Dec 14, 2022
CYLD-AS23Dec 14, 2022
CYP1B13Dec 11, 2022
CYP4V21Dec 11, 2022
DCTN11Dec 11, 2022
DDC1Dec 11, 2022
DDX3X2Dec 11, 2023
DDX411Dec 11, 2022
DEAF11Dec 11, 2022
DEPDC52Dec 11, 2023
DGAT11Dec 14, 2022
DHCR72Dec 14, 2022
DICER13Dec 11, 2023
DKC11Dec 11, 2023
DLG41Dec 11, 2022
DLL11Dec 14, 2022
DMD1Dec 14, 2022
DMXL21Dec 11, 2022
DNA21Dec 11, 2022
DNAAF41Dec 11, 2022
DNAAF4-CCPG11Dec 11, 2022
DNAAF53Dec 11, 2023
DNAH12Dec 11, 2023
DNAH1114Dec 11, 2023
DNAH511Dec 14, 2022
DNAH83Dec 11, 2023
DNAH8-AS11Dec 11, 2023
DNAH93Dec 11, 2023
DNAI21Dec 14, 2022
DNAJB131Dec 11, 2022
DNAJC211Dec 11, 2022
DNAJC31Dec 14, 2022
DNASE11Dec 14, 2022
DNM12Dec 11, 2023
DOCK41Dec 11, 2023
DOCK81Dec 14, 2022
DPF21Dec 14, 2022
DSG21Dec 14, 2022
DSP2Dec 11, 2023
DTNBP11Dec 11, 2022
DUOX210Dec 11, 2023
DVL21Dec 14, 2022
DYNC1H12Dec 14, 2022
DYNC2H12Dec 11, 2023
DYNC2LI11Dec 14, 2022
DYSF3Dec 14, 2022
EARS23Dec 11, 2023
ECEL11Dec 14, 2022
EDA1Dec 14, 2022
EDN31Dec 14, 2022
EFTUD23Dec 11, 2023
EHHADH1Dec 11, 2023
EHMT11Dec 11, 2023
EIF2B41Dec 14, 2022
EIF2B51Dec 11, 2022
ELANE3Dec 11, 2023
ELF41Dec 11, 2023
ENG3Dec 11, 2023
EP3001Dec 11, 2023
EPHB41Dec 11, 2023
EPM2A1Dec 11, 2023
EPM2A-DT1Dec 11, 2023
ERCC22Dec 11, 2022
ETV61Dec 11, 2023
EXOSC32Dec 11, 2022
EXPH51Dec 11, 2022
EXT11Dec 11, 2022
EXT21Dec 14, 2022
EYA12Dec 11, 2023
EYS3Dec 14, 2022
EZH21Dec 11, 2023
F114Dec 11, 2023
F11-AS11Dec 11, 2023
F51Dec 14, 2022
F75Dec 11, 2023
F851Dec 11, 2023
F96Dec 11, 2023
FAM161A1Dec 11, 2022
FANCA1Dec 14, 2022
FANCD21Dec 11, 2023
FANCG1Dec 14, 2022
FANCI2Dec 11, 2023
FANCM1Dec 11, 2023
FAT41Dec 11, 2022
FBN18Dec 11, 2023
FBN22Dec 11, 2023
FBXO111Dec 11, 2023
FECH1Dec 11, 2022
FERMT31Dec 14, 2022
FGA2Dec 11, 2023
FGB1Dec 11, 2022
FGFR11Dec 11, 2023
FGFR21Dec 11, 2023
FGFR33Dec 11, 2023
FGG3Dec 11, 2023
FH2Dec 14, 2022
FIG41Dec 11, 2022
FKRP1Dec 14, 2022
FLCN5Dec 11, 2023
FLNA4Dec 11, 2023
FLNB1Dec 11, 2022
FLNC4Dec 11, 2023
FLNC-AS11Dec 14, 2022
FMR11Dec 11, 2022
FOXC117Dec 11, 2022
FOXJ12Dec 11, 2023
FOXP12Dec 11, 2022
FTH11Dec 14, 2022
FTL1Dec 11, 2022
FZD41Dec 14, 2022
G6PC11Dec 11, 2022
G6PD2Dec 11, 2023
GAA2Dec 11, 2023
GABRG21Dec 11, 2022
GALNS2Dec 11, 2022
GALT3Dec 11, 2022
GANAB1Dec 14, 2022
GAREM21Dec 11, 2022
GAS2L21Dec 14, 2022
GAS83Dec 14, 2022
GATA11Dec 11, 2022
GATA21Dec 14, 2022
GBA12Dec 14, 2022
GBE11Dec 11, 2022
GCDH1Dec 11, 2022
GCK12Dec 11, 2023
GCM21Dec 11, 2022
GDAP11Dec 11, 2023
GFAP1Dec 11, 2022
GFI1B3Dec 11, 2023
GH-LCR2Dec 11, 2023
GJA31Dec 11, 2022
GJB13Dec 11, 2023
GJB22Dec 11, 2023
GJB61Dec 11, 2023
GJD2-DT2Dec 11, 2023
GLDC2Dec 11, 2023
GLRA11Dec 14, 2022
GLUD12Dec 14, 2022
GNAO11Dec 14, 2022
GNAS1Dec 11, 2022
GNE1Dec 11, 2022
GP1BA3Dec 11, 2023
GP1BB2Dec 11, 2023
GP92Dec 14, 2022
GPC31Dec 11, 2022
GRIA21Dec 11, 2022
GRIA32Dec 11, 2022
GRIA41Dec 11, 2023
GRIN12Dec 14, 2022
GRIN2B4Dec 11, 2023
GRM11Dec 11, 2022
GSN2Dec 14, 2022
GTF3C2-AS21Dec 14, 2022
GTPBP31Dec 11, 2022
GUCY2C1Dec 14, 2022
GUCY2D2Dec 14, 2022
HADHA1Dec 11, 2022
HADHB1Dec 11, 2022
HAX11Dec 14, 2022
HBA12Dec 14, 2022
HBA24Dec 11, 2023
HBB15Dec 11, 2023
HERC22Dec 11, 2022
HFE1Dec 11, 2022
HFE-AS11Dec 11, 2022
HGSNAT1Dec 11, 2022
HIVEP21Dec 11, 2022
HMGCL2Dec 11, 2023
HNF1A5Dec 14, 2022
HNF1B2Dec 14, 2022
HNF4A4Dec 14, 2022
HNRNPH21Dec 11, 2022
HNRNPU1Dec 11, 2022
HOXB131Dec 11, 2022
HPS11Dec 11, 2023
HPS63Dec 11, 2023
HRAS1Dec 11, 2022
HSALR12Dec 11, 2023
HSF41Dec 14, 2022
HUWE12Dec 14, 2022
HYDIN5Dec 14, 2022
IDH3A1Dec 14, 2022
IFIH12Dec 11, 2023
IGF1R1Dec 11, 2023
IGSF12Dec 14, 2022
IKBKB1Dec 11, 2023
IMPG11Dec 14, 2022
INSR2Dec 11, 2023
IRAIN1Dec 11, 2023
IRF62Dec 14, 2022
ITGA2B3Dec 14, 2022
ITGB31Dec 14, 2022
ITPR11Dec 11, 2023
JAG21Dec 14, 2022
JAGN11Dec 11, 2022
JMJD81Dec 11, 2022
KAT6A2Dec 11, 2023
KAT6B1Dec 11, 2022
KCNA11Dec 11, 2022
KCNA21Dec 14, 2022
KCND31Dec 14, 2022
KCNE11Dec 14, 2022
KCNH21Dec 14, 2022
KCNJ12Dec 11, 2023
KCNJ111Dec 11, 2023
KCNQ14Dec 11, 2023
KCNT21Dec 14, 2022
KCTD31Dec 11, 2023
KDM5B1Dec 11, 2022
KDM5C3Dec 11, 2023
KDM6A1Dec 11, 2022
KDM6B1Dec 11, 2022
KIDINS2201Dec 11, 2023
KIF111Dec 14, 2022
KIF1A2Dec 14, 2022
KIF221Dec 14, 2022
KIT1Dec 11, 2023
KLF11Dec 11, 2023
KLHL71Dec 14, 2022
KMT2A2Dec 11, 2023
KMT2D6Dec 11, 2023
KMT2E1Dec 14, 2022
KRIT13Dec 11, 2023
KRT122Dec 11, 2022
LAMA23Dec 14, 2022
LDB31Dec 14, 2022
LDLR13Dec 11, 2023
LEPR1Dec 14, 2022
LMBRD21Dec 11, 2023
LMNA2Dec 11, 2023
LMNB11Dec 14, 2022
LMX1A1Dec 11, 2023
LMX1B2Dec 11, 2022
LOC1005073461Dec 11, 2022
LOC10609906213Dec 11, 2023
LOC1066279812Dec 14, 2022
LOC1068046124Dec 11, 2023
LOC1068046131Dec 14, 2022
LOC10713351015Dec 11, 2023
LOC1073033381Dec 11, 2023
LOC1073033404Dec 11, 2023
LOC1079822341Dec 11, 2023
LOC1079880322Dec 11, 2023
LOC1082811771Dec 11, 2022
LOC1086639841Dec 11, 2023
LOC1100063192Dec 11, 2023
LOC1116744721Dec 14, 2022
LOC1116744771Dec 11, 2023
LOC1138395161Dec 11, 2023
LOC1139399441Dec 11, 2022
LOC1217406381Dec 11, 2022
LOC1251773931Dec 11, 2023
LOC1268056121Dec 11, 2023
LOC1268061041Dec 11, 2023
LOC1268063731Dec 14, 2022
LOC1268064301Dec 11, 2022
LOC1268066581Dec 11, 2023
LOC1268598072Dec 11, 2023
LOC1268598371Dec 11, 2022
LOC1268601241Dec 11, 2023
LOC1268604031Dec 11, 2022
LOC1268608021Dec 11, 2023
LOC1268616151Dec 11, 2022
LOC1268618972Dec 11, 2023
LOC1268618982Dec 11, 2023
LOC1268622643Dec 11, 2023
LOC1268625491Dec 11, 2022
LOC1268625716Dec 11, 2023
LOC1268626091Dec 11, 2023
LOC1268626111Dec 14, 2022
LOC1268631581Dec 11, 2023
LOC1268632561Dec 11, 2022
LOC1268632571Dec 11, 2022
LOC1299304461Dec 14, 2022
LOC1299340691Dec 11, 2023
LOC1299926251Dec 14, 2022
LOC1299938951Dec 11, 2023
LOC1299956014Dec 22, 2016
LOC1299973811Dec 11, 2023
LOC1300018141Dec 11, 2022
LOC1300035541Dec 11, 2023
LOC1300041441Dec 11, 2022
LOC1300046141Dec 11, 2023
LOC1300092661Dec 14, 2022
LOC1300589061Dec 14, 2022
LOC1300600411Dec 11, 2023
LOC1300600442Dec 11, 2023
LOC1300626281Dec 11, 2022
LOC1300648921Dec 11, 2022
LOC1300675741Dec 11, 2022
LPIN11Dec 14, 2022
LPIN21Dec 14, 2022
LPL2Dec 14, 2022
LRBA3Dec 14, 2022
LRP51Dec 14, 2022
LRRC562Dec 11, 2023
LRRK21Dec 11, 2022
LRSAM11Dec 11, 2023
LZTR112Dec 11, 2023
MACF11Dec 11, 2022
MAFA2Dec 14, 2022
MAGEL21Dec 11, 2023
MAP2K21Dec 11, 2023
MAPT1Dec 11, 2022
MASTL2Dec 14, 2022
MAT1A1Dec 11, 2023
MATN31Dec 11, 2023
MCCC12Dec 14, 2022
MCCC22Dec 14, 2022
MCIDAS1Dec 11, 2022
MECP22Dec 11, 2023
MED121Dec 11, 2023
MED12L2Dec 11, 2023
MED132Dec 11, 2023
MED13L1Dec 11, 2022
MEFV4Dec 11, 2023
MEN13Dec 11, 2023
MERTK1Dec 11, 2022
MET1Dec 14, 2022
MFF-DT3Dec 11, 2023
MFN21Dec 11, 2022
MHRT3Dec 11, 2023
MLH112Dec 11, 2023
MMACHC2Dec 14, 2022
MMADHC1Dec 14, 2022
MPL1Dec 14, 2022
MSH215Dec 11, 2023
MSH624Dec 11, 2023
MTOR2Dec 14, 2022
MTSS21Dec 11, 2023
MUSK1Dec 11, 2023
MUTYH4Dec 11, 2023
MVK1Dec 14, 2022
MYBPC314Dec 11, 2023
MYH21Dec 14, 2022
MYH32Dec 11, 2023
MYH713Dec 11, 2023
MYH98Dec 11, 2023
MYHAS1Dec 14, 2022
MYL31Dec 11, 2023
MYLK1Dec 14, 2022
MYO7A1Dec 11, 2023
MYOC6Dec 14, 2022
MYRF1Dec 11, 2022
MYT1L1Dec 14, 2022
NAA152Dec 11, 2023
NAGA1Dec 11, 2022
NALCN1Dec 14, 2022
NBAS1Dec 14, 2022
NBEAL21Dec 11, 2023
NCF21Dec 11, 2022
NCKAP11Dec 11, 2023
NCR11Dec 11, 2023
NEB5Dec 14, 2022
NEFL1Dec 14, 2022
NEXN1Dec 14, 2022
NF115Dec 11, 2023
NF215Dec 11, 2023
NFIX1Dec 11, 2022
NFKB13Dec 11, 2023
NIPBL4Dec 11, 2023
NLRP123Dec 11, 2023
NLRP31Dec 11, 2023
NLRP71Dec 11, 2023
NOTCH12Dec 14, 2022
NOTCH36Dec 11, 2023
NPHP31Dec 11, 2022
NPHP3-ACAD111Dec 11, 2022
NPHP41Dec 11, 2023
NPHS22Dec 11, 2023
NPRL21Dec 11, 2022
NR2E32Dec 11, 2023
NR5A11Dec 11, 2022
NRXN12Dec 14, 2022
NSD12Dec 11, 2023
NSDHL1Dec 11, 2022
NTHL12Dec 11, 2023
OAS11Dec 11, 2023
ODAD11Dec 11, 2022
ODAD22Dec 14, 2022
ODAD31Dec 14, 2022
OPA12Dec 11, 2023
OPHN11Dec 11, 2022
OPN1LW1Dec 14, 2022
OTC1Dec 11, 2023
PACS21Dec 11, 2023
PADI32Dec 11, 2022
PAH6Dec 14, 2022
PALB229Dec 11, 2023
PARK71Dec 11, 2022
PARN2Dec 11, 2023
PAX69Feb 22, 2018
PAX81Dec 11, 2023
PBX11Dec 11, 2022
PCARE1Dec 14, 2022
PDE6B2Dec 14, 2022
PDE6B-AS11Dec 14, 2022
PDHA11Dec 11, 2023
PGK11Dec 11, 2022
PHEX2Dec 11, 2023
PHYH1Dec 11, 2022
PI4KA2Dec 11, 2023
PIEZO13Dec 11, 2023
PIEZO21Dec 14, 2022
PIGB1Dec 11, 2022
PIGBOS11Dec 11, 2022
PIK3CA1Dec 11, 2023
PIK3CD3Dec 11, 2023
PIKFYVE2Dec 14, 2022
PINK11Dec 11, 2022
PINK1-AS1Dec 11, 2022
PITPNM31Dec 14, 2022
PITX29Dec 22, 2016
PKD14Dec 14, 2022
PKD1-AS12Dec 14, 2022
PKHD13Dec 14, 2022
PKLR2Dec 11, 2023
PKP22Dec 14, 2022
PLCB21Dec 11, 2023
PLCG21Dec 14, 2022
PLEKHG21Dec 11, 2022
PMM21Dec 11, 2022
PMP221Dec 11, 2022
PMS27Dec 14, 2022
PNKD2Dec 11, 2022
PNKP1Dec 11, 2023
POLA11Dec 14, 2022
POLD11Dec 14, 2022
POLE3Dec 14, 2022
POLG7Dec 11, 2023
POLGARF7Dec 11, 2023
POLR3B3Dec 11, 2023
POLRMT1Dec 11, 2023
PPARG1Dec 11, 2023
PPOX1Dec 11, 2022
PRDM161Dec 14, 2022
PRF11Dec 11, 2023
PRKAG21Dec 14, 2022
PRKD11Dec 11, 2022
PRKN4Dec 14, 2022
PROC2Dec 14, 2022
PROM12Dec 14, 2022
PROS13Dec 11, 2023
PRPF311Dec 11, 2022
PRPF31-AS11Dec 11, 2022
PRPF81Dec 11, 2022
PRPH21Dec 14, 2022
PRSS231Dec 14, 2022
PSEN11Dec 11, 2022
PSTPIP11Dec 14, 2022
PTCH12Dec 11, 2023
PTCHD11Dec 11, 2023
PTCHD1-AS2Dec 11, 2023
PTEN7Dec 11, 2023
PTH1R1Dec 11, 2023
PTPN119Dec 11, 2023
PTS2Dec 11, 2022
PUM11Dec 11, 2022
PYGM1Dec 14, 2022
RAB232Dec 14, 2022
RAD211Dec 14, 2022
RAD51C6Dec 14, 2022
RAD51D4Dec 14, 2022
RAD51L3-RFFL4Dec 14, 2022
RAF11Dec 14, 2022
RAI11Dec 11, 2022
RAPSN3Dec 14, 2022
RARS11Dec 11, 2022
RASGRP21Dec 11, 2023
RB120Dec 11, 2023
RBM201Dec 11, 2023
RERE1Dec 11, 2022
RET17Dec 11, 2023
RHO1Dec 11, 2022
RIF11Dec 11, 2022
RIT11Dec 11, 2022
RNASEH2B1Dec 14, 2022
RORA1Dec 11, 2023
RORA-AS11Dec 11, 2023
RP14Dec 14, 2022
RP21Dec 11, 2022
RPE654Dec 14, 2022
RPGR2Dec 11, 2023
RPL36A-HNRNPH21Dec 11, 2022
RPL51Dec 14, 2022
RPS241Dec 11, 2022
RS11Dec 11, 2022
RSPH11Dec 11, 2023
RSPH4A1Dec 14, 2022
RTEL11Dec 11, 2023
RTEL1-TNFRSF6B1Dec 11, 2023
RUNX22Dec 11, 2022
RYR19Dec 11, 2023
SALL13Dec 11, 2022
SAMD92Dec 11, 2023
SARDH1Dec 11, 2023
SBDS2Dec 11, 2023
SCN2A1Dec 11, 2022
SCN3A2Dec 14, 2022
SCN4A2Dec 11, 2023
SCN5A4Dec 11, 2023
SCNN1A1Dec 11, 2023
SCNN1B1Dec 11, 2022
SDHA3Dec 11, 2023
SDHB4Dec 11, 2023
SDHC1Dec 14, 2022
SDHD3Dec 11, 2023
SEMA5A1Dec 11, 2023
SEPT5-GP1BB2Dec 11, 2023
SERPINA12Dec 11, 2022
SERPINB71Dec 14, 2022
SERPINC14Dec 11, 2023
SETD1B1Dec 11, 2022
SETD51Dec 11, 2022
SETX1Dec 14, 2022
SGSH4Dec 14, 2022
SH2B31Dec 14, 2022
SH3TC24Dec 11, 2023
SHANK21Dec 11, 2022
SHH1Dec 11, 2023
SHOX1Dec 11, 2022
SHROOM41Dec 14, 2022
SI2Dec 11, 2023
SLC12A32Dec 11, 2023
SLC20A21Dec 11, 2023
SLC22A51Dec 11, 2022
SLC25A201Dec 11, 2022
SLC26A111Dec 11, 2022
SLC26A21Dec 14, 2022
SLC26A32Dec 14, 2022
SLC26A42Dec 11, 2022
SLC4A111Dec 11, 2022
SLC52A11Dec 11, 2022
SLC52A31Dec 14, 2022
SLC5A61Dec 11, 2022
SLC6A81Dec 11, 2022
SLC7A91Dec 11, 2022
SLC9A71Dec 11, 2023
SLFN141Dec 14, 2022
SLX41Dec 11, 2022
SMAD61Dec 14, 2022
SMARCA21Dec 11, 2022
SMARCA43Dec 14, 2022
SMARCAL11Dec 11, 2023
SMARCB11Dec 14, 2022
SMARCE13Dec 11, 2023
SMC1A1Dec 11, 2022
SNHG141Dec 11, 2023
SORD2Dec 11, 2023
SOS12Dec 11, 2022
SOX111Dec 14, 2022
SOX21Dec 11, 2022
SOX2-OT1Dec 11, 2022
SOX41Dec 11, 2023
SOX91Dec 11, 2022
SPAST3Dec 11, 2023
SPATA71Dec 14, 2022
SPG111Dec 11, 2023
SPG73Dec 11, 2023
SPINK52Dec 11, 2023
SPR1Dec 11, 2023
SRCAP2Dec 11, 2023
SRP541Dec 11, 2022
SRP721Dec 14, 2022
STAG11Dec 11, 2023
STAG21Dec 14, 2022
STS3Dec 14, 2022
STUB12Dec 11, 2023
STXBP11Dec 11, 2022
STXBP22Dec 14, 2022
SUFU1Dec 11, 2023
SURF11Dec 11, 2022
SVIL2Dec 11, 2022
SYNE13Dec 11, 2023
SYNE21Dec 11, 2022
SYT21Dec 14, 2022
TAF11Dec 11, 2023
TARS21Dec 11, 2022
TBK11Dec 11, 2022
TBL1X1Dec 14, 2022
TBX221Dec 11, 2022
TBX51Dec 11, 2022
TCF201Dec 11, 2023
TCF41Dec 11, 2022
TCOF11Dec 11, 2022
TERT3Dec 11, 2023
TFAP2A2Dec 11, 2022
TFAP2A-AS21Dec 11, 2022
TG4Dec 11, 2023
TGFB21Dec 11, 2023
TGFB33Dec 14, 2022
TGFBI7Dec 14, 2022
TGM12Dec 11, 2022
THOC21Dec 11, 2023
TINF21Dec 11, 2023
TJP21Dec 11, 2022
TLK21Dec 14, 2022
TMEM2401Dec 11, 2022
TMPRSS151Dec 11, 2023
TMPRSS32Dec 11, 2022
TNFAIP34Dec 11, 2023
TNFRSF11A1Dec 11, 2022
TNFRSF13C1Dec 11, 2022
TNFRSF1A2Dec 14, 2022
TNNC11Dec 14, 2022
TNNT21Dec 14, 2022
TP537Dec 14, 2022
TP731Dec 11, 2023
TPI12Dec 11, 2022
TPM13Dec 11, 2023
TPO3Dec 11, 2023
TRAF72Dec 11, 2022
TRAP11Dec 14, 2022
TRIO3Dec 11, 2023
TRPM12Dec 14, 2022
TRPS12Dec 11, 2023
TRPV41Dec 11, 2023
TRRAP1Dec 14, 2022
TSC11Dec 11, 2022
TSC26Dec 11, 2023
TSHR4Dec 11, 2023
TSPAN121Dec 11, 2022
TTBK21Dec 11, 2023
TTN5Dec 11, 2023
TTN-AS14Dec 11, 2023
TTR1Dec 11, 2023
TUBB1Dec 11, 2023
TUBB12Dec 11, 2023
TUBB4A2Dec 11, 2023
TWIST11Dec 14, 2022
TYR3Dec 14, 2022
UBE3A1Dec 11, 2023
UBIAD11Dec 14, 2022
UGT1A1Dec 14, 2022
UGT1A11Dec 14, 2022
UGT1A101Dec 14, 2022
UGT1A31Dec 14, 2022
UGT1A41Dec 14, 2022
UGT1A51Dec 14, 2022
UGT1A61Dec 14, 2022
UGT1A71Dec 14, 2022
UGT1A81Dec 14, 2022
UGT1A91Dec 14, 2022
UIMC11Dec 11, 2023
UNC13D2Dec 11, 2022
UROD1Dec 11, 2023
USH1C2Dec 14, 2022
USH2A17Dec 11, 2023
USH2A-AS11Dec 11, 2023
USH2A-AS21Dec 11, 2022
USP9X1Dec 11, 2022
VHL7Dec 11, 2023
VPS13A1Dec 11, 2022
VPS13A-AS11Dec 11, 2022
VPS13B3Dec 11, 2023
VPS13D2Dec 11, 2023
VPS451Dec 11, 2022
VWF49Dec 11, 2023
WAC1Dec 11, 2023
WDR261Dec 11, 2022
WDR452Dec 11, 2022
WDR721Dec 11, 2022
WDR731Dec 11, 2023
WDR812Dec 11, 2022
WFS12Dec 14, 2022
WIPF11Dec 11, 2022
WNT10A1Dec 11, 2023
WNT10B1Dec 11, 2023
WT13Dec 11, 2023
ZBTB201Dec 11, 2023
ZDHHC241Dec 11, 2023
ZEB13Dec 11, 2023
ZFAT1Dec 11, 2022
ZFHX41Dec 11, 2023
ZFYVE261Dec 11, 2022
ZMYM22Dec 14, 2022
ZMYND111Dec 11, 2023
ZNF2921Dec 14, 2022

Condition

NameSubmissionsLast Updated
3-methylcrotonyl-CoA carboxylase 1 deficiency2Dec 14, 2022
3-methylcrotonyl-CoA carboxylase 2 deficiency2Dec 14, 2022
46,XY sex reversal 31Dec 11, 2022
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency2Dec 11, 2022
A20 haploinsufficiency2Dec 14, 2022
ACTH-independent macronodular adrenal hyperplasia 22Dec 14, 2022
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Dec 11, 2023
Achondrogenesis type II1Dec 11, 2023
Achondrogenesis, type IB1Dec 14, 2022
Acquired hemoglobin H disease1Dec 14, 2022
Acute myeloid leukemia3Dec 14, 2022
Acyl-CoA dehydrogenase 9 deficiency1Dec 11, 2022
Adams-Oliver syndrome 51Dec 11, 2022
Adrenoleukodystrophy1Dec 11, 2022
Adult-onset autosomal dominant demyelinating leukodystrophy1Dec 14, 2022
Age related macular degeneration 41Dec 11, 2022
Aicardi-Goutieres syndrome 21Dec 14, 2022
Aicardi-Goutieres syndrome 72Dec 11, 2023
Alexander disease1Dec 11, 2022
Alpha thalassemia-X-linked intellectual disability syndrome1Dec 14, 2022
Alpha-1-antitrypsin deficiency2Dec 11, 2022
Alpha-N-acetylgalactosaminidase deficiency type 21Dec 11, 2022
Alport syndrome3Dec 11, 2023
Alzheimer disease 31Dec 11, 2022
Amelogenesis imperfecta hypomaturation type 2A31Dec 11, 2022
Amyloidosis1Dec 11, 2023
Amyotrophic lateral sclerosis type 111Dec 11, 2022
Amyotrophic lateral sclerosis type 41Dec 14, 2022
Androgen resistance syndrome2Dec 14, 2022
Anemia, congenital dyserythropoietic, type 1a3Dec 14, 2022
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Dec 11, 2023
Angelman syndrome1Dec 11, 2023
Aniridia 19Feb 22, 2018
Anophthalmia/microphthalmia-esophageal atresia syndrome1Dec 11, 2022
Anterior segment dysgenesis 31Dec 11, 2022
Anterior segment dysgenesis 61Dec 11, 2022
Aortic valve disease 11Dec 14, 2022
Aortic valve disease 21Dec 14, 2022
Aplastic anemia2Dec 11, 2023
Ariboflavinosis1Dec 11, 2022
Arrhythmogenic right ventricular cardiomyopathy2Dec 11, 2023
Arrhythmogenic right ventricular dysplasia 11Dec 14, 2022
Arrhythmogenic right ventricular dysplasia 101Dec 14, 2022
Arrhythmogenic right ventricular dysplasia 81Dec 14, 2022
Arrhythmogenic right ventricular dysplasia 92Dec 14, 2022
Arrhythmogenic right ventricular dysplasia, familial, 141Dec 11, 2023
Asphyxiating thoracic dystrophy 32Dec 11, 2023
Astrocytoma1Dec 11, 2022
Ataxia - oculomotor apraxia type 41Dec 11, 2023
Ataxia-telangiectasia syndrome5Dec 11, 2023
Atrioventricular septal defect, susceptibility to, 21Dec 11, 2022
Atypical hemolytic-uremic syndrome1Dec 11, 2023
Atypical hemolytic-uremic syndrome with C3 anomaly1Dec 14, 2022
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1Dec 11, 2022
Autism1Dec 11, 2023
Autism spectrum disorder1Dec 11, 2023
Autism, susceptibility to, X-linked 41Dec 11, 2023
Autoimmune interstitial lung disease-arthritis syndrome1Dec 11, 2023
Autoimmune thyroid disease, susceptibility to, 31Dec 11, 2022
Autoinflammatory syndrome, familial, Behcet-like 12Dec 11, 2023
Autoinflammatory syndrome, familial, X-linked, Behcet-like 21Dec 11, 2023
Autosomal dominant Alport syndrome1Dec 11, 2023
Autosomal dominant Parkinson disease 81Dec 11, 2022
Autosomal dominant aplasia and myelodysplasia1Dec 14, 2022
Autosomal dominant hypocalcemia 15Dec 11, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2Dec 11, 2023
Autosomal dominant nonsyndromic hearing loss 111Dec 11, 2023
Autosomal dominant nonsyndromic hearing loss 173Dec 14, 2022
Autosomal dominant nonsyndromic hearing loss 61Dec 14, 2022
Autosomal dominant nonsyndromic hearing loss 71Dec 11, 2023
Autosomal dominant optic atrophy classic form2Dec 11, 2023
Autosomal recessive Alport syndrome1Dec 11, 2023
Autosomal recessive ataxia due to ubiquinone deficiency1Dec 11, 2022
Autosomal recessive ataxia, Beauce type2Dec 11, 2022
Autosomal recessive bestrophinopathy2Dec 14, 2022
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Dec 11, 2023
Autosomal recessive congenital ichthyosis 12Dec 11, 2022
Autosomal recessive early-onset Parkinson disease 61Dec 11, 2022
Autosomal recessive early-onset Parkinson disease 71Dec 11, 2022
Autosomal recessive juvenile Parkinson disease 24Dec 14, 2022
Autosomal recessive limb-girdle muscular dystrophy1Dec 14, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2B2Dec 11, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I1Dec 14, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2L1Dec 14, 2022
Autosomal recessive nonsyndromic hearing loss 1A2Dec 11, 2023
Autosomal recessive nonsyndromic hearing loss 21Dec 11, 2023
Autosomal recessive nonsyndromic hearing loss 82Dec 11, 2022
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1Dec 11, 2022
Autosomal recessive spinocerebellar ataxia 102Dec 14, 2022
Autosomal recessive spinocerebellar ataxia 161Dec 11, 2023
Avascular necrosis of femoral head, primary, 11Dec 11, 2022
Avellino corneal dystrophy1Dec 11, 2022
Axenfeld-Rieger syndrome type 19Dec 22, 2016
Axenfeld-Rieger syndrome type 317Dec 11, 2022
BAP1-related tumor predisposition syndrome2Dec 14, 2022
Bardet-Biedl syndrome 11Dec 11, 2023
Bardet-Biedl syndrome 141Dec 14, 2022
Bartter disease type 22Dec 11, 2023
Benign familial hematuria1Dec 11, 2023
Bernard Soulier syndrome4Dec 11, 2023
Beta-thalassemia HBB/LCRB9Dec 11, 2023
Bethlem myopathy1Dec 14, 2022
Bethlem myopathy 1A5Dec 11, 2023
Bietti crystalline corneoretinal dystrophy1Dec 11, 2022
Biotinidase deficiency2Dec 11, 2023
Birt-Hogg-Dube syndrome3Dec 11, 2023
Bleeding disorder, platelet-type, 241Dec 14, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type1Dec 11, 2022
Bone marrow failure syndrome 31Dec 11, 2022
Bone osteosarcoma1Dec 11, 2022
Brain small vessel disease 1 with or without ocular anomalies1Dec 14, 2022
Branchiooculofacial syndrome2Dec 11, 2022
Branchiootic syndrome 11Dec 11, 2023
Branchiootorenal syndrome 11Dec 11, 2022
Breast-ovarian cancer, familial, susceptibility to, 129Dec 11, 2023
Breast-ovarian cancer, familial, susceptibility to, 252Dec 11, 2023
Breast-ovarian cancer, familial, susceptibility to, 35Dec 14, 2022
Breast-ovarian cancer, familial, susceptibility to, 44Dec 14, 2022
Bronchiectasis with or without elevated sweat chloride 11Dec 11, 2022
Bronchiectasis with or without elevated sweat chloride 21Dec 11, 2023
Brooke-Spiegler syndrome2Dec 14, 2022
Brown-Vialetto-van Laere syndrome 11Dec 14, 2022
Brugada syndrome1Dec 11, 2023
Brugada syndrome 11Dec 14, 2022
Brugada syndrome 33Dec 11, 2023
Brugada syndrome 91Dec 14, 2022
CFHR5 deficiency1Dec 11, 2023
CHARGE syndrome5Dec 11, 2023
CK syndrome1Dec 11, 2022
CLOVES syndrome1Dec 11, 2023
Camptomelic dysplasia1Dec 11, 2022
Capillary malformation-arteriovenous malformation 21Dec 11, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Dec 11, 2022
Cardiac, facial, and digital anomalies with developmental delay2Dec 11, 2022
Cardiac-urogenital syndrome1Dec 11, 2022
Carnitine acylcarnitine translocase deficiency1Dec 11, 2022
Carnitine palmitoyl transferase 1A deficiency2Dec 14, 2022
Cataract 10 multiple types2Dec 14, 2022
Cataract 17 multiple types1Dec 14, 2022
Cataract 3 multiple types1Dec 14, 2022
Cataract 5 multiple types1Dec 14, 2022
Cataract 9 multiple types1Dec 14, 2022
Central core myopathy3Dec 11, 2023
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Dec 11, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 14Dec 11, 2023
Cerebral cavernous malformation2Dec 11, 2023
Charcot-Marie-Tooth disease X-linked dominant 13Dec 11, 2023
Charcot-Marie-Tooth disease axonal type 2C1Dec 11, 2023
Charcot-Marie-Tooth disease axonal type 2K1Dec 11, 2023
Charcot-Marie-Tooth disease axonal type 2P1Dec 11, 2023
Charcot-Marie-Tooth disease type 1F1Dec 14, 2022
Charcot-Marie-Tooth disease type 2A21Dec 11, 2022
Charcot-Marie-Tooth disease type 4C4Dec 11, 2023
Charcot-Marie-Tooth disease, type IA1Dec 11, 2022
Cholestasis2Dec 11, 2023
Cholestasis, progressive familial intrahepatic, 41Dec 11, 2022
Chopra-Amiel-Gordon syndrome1Dec 11, 2023
Chorea-acanthocytosis1Dec 11, 2022
Ciliary dyskinesia, primary, 372Dec 11, 2023
Ciliary dyskinesia, primary, 391Dec 11, 2023
Ciliary dyskinesia, primary, 403Dec 11, 2023
Ciliary dyskinesia, primary, 411Dec 14, 2022
Ciliary dyskinesia, primary, 421Dec 11, 2022
Ciliary dyskinesia, primary, 432Dec 11, 2023
Ciliary dyskinesia, primary, 47, and lissencephaly1Dec 11, 2023
Citrullinemia type I2Dec 14, 2022
Classic homocystinuria3Dec 11, 2023
Cleft palate with or without ankyloglossia, X-linked1Dec 11, 2022
Cleidocranial dysostosis2Dec 11, 2022
Cobalamin C disease2Dec 14, 2022
Coffin-Siris syndrome1Dec 14, 2022
Coffin-Siris syndrome 12Dec 11, 2023
Coffin-Siris syndrome 101Dec 11, 2023
Coffin-Siris syndrome 71Dec 14, 2022
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Dec 11, 2022
Cohen syndrome2Dec 11, 2023
Colorectal cancer1Dec 11, 2022
Colorectal cancer, hereditary nonpolyposis, type 26Dec 11, 2023
Colorectal cancer, susceptibility to, 101Dec 14, 2022
Colorectal cancer, susceptibility to, 123Dec 14, 2022
Combined immunodeficiency due to DOCK8 deficiency1Dec 14, 2022
Combined immunodeficiency due to LRBA deficiency3Dec 14, 2022
Combined malonic and methylmalonic acidemia1Dec 11, 2023
Combined oxidative phosphorylation defect type 211Dec 11, 2022
Combined oxidative phosphorylation defect type 231Dec 11, 2022
Combined oxidative phosphorylation deficiency 551Dec 11, 2023
Complement component 6 deficiency1Dec 11, 2023
Complex cortical dysplasia with other brain malformations 61Dec 11, 2023
Complex neurodevelopmental disorder2Dec 11, 2023
Cone-rod dystrophy 21Dec 11, 2023
Cone-rod dystrophy 36Dec 14, 2022
Cone-rod dystrophy 51Dec 14, 2022
Cone-rod dystrophy 61Dec 14, 2022
Congenital amegakaryocytic thrombocytopenia1Dec 14, 2022
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Dec 11, 2022
Congenital anomaly of kidney and urinary tract1Dec 14, 2022
Congenital cataracts-facial dysmorphism-neuropathy syndrome1Dec 11, 2022
Congenital contractural arachnodactyly1Dec 11, 2023
Congenital diarrhea 7 with exudative enteropathy1Dec 14, 2022
Congenital dyserythropoietic anemia type 41Dec 11, 2023
Congenital factor VII deficiency5Dec 11, 2023
Congenital heart defects and ectodermal dysplasia1Dec 11, 2022
Congenital heart defects and skeletal malformations syndrome1Dec 14, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Dec 11, 2023
Congenital hereditary endothelial dystrophy of cornea1Dec 11, 2022
Congenital muscular hypertrophy-cerebral syndrome1Dec 11, 2022
Congenital myasthenic syndrome2Dec 11, 2023
Congenital myasthenic syndrome 111Dec 11, 2022
Congenital myasthenic syndrome 161Dec 11, 2023
Congenital myasthenic syndrome 71Dec 14, 2022
Congenital myasthenic syndrome 81Dec 11, 2022
Congenital myasthenic syndrome 91Dec 11, 2023
Congenital myopathy2Dec 11, 2023
Congenital myotonia, autosomal dominant form1Dec 11, 2022
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1Dec 11, 2022
Congenital secretory diarrhea, chloride type3Dec 14, 2022
Congenital stationary night blindness 1C2Dec 14, 2022
Congenital stationary night blindness 2A4Dec 14, 2022
Corneal dystrophy1Dec 11, 2023
Corneal dystrophy, Meesmann, 12Dec 11, 2022
Cornelia de Lange syndrome 14Dec 11, 2023
Cornelia de Lange syndrome 41Dec 14, 2022
Costello syndrome1Dec 11, 2022
Cough1Dec 11, 2022
Cowden syndrome 12Dec 11, 2023
Creatine transporter deficiency1Dec 11, 2022
Crigler-Najjar syndrome, type II1Dec 14, 2022
Cyclical neutropenia2Dec 11, 2023
Cystic fibrosis8Dec 11, 2023
Cystinuria1Dec 11, 2022
DICER1-related tumor predisposition1Dec 11, 2023
De Lange syndrome1Dec 14, 2022
DeSanto-Shinawi syndrome due to WAC point mutation1Dec 11, 2023
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Dec 11, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3Dec 11, 2022
Deficiency of aromatic-L-amino-acid decarboxylase1Dec 11, 2022
Deficiency of butyryl-CoA dehydrogenase2Dec 14, 2022
Deficiency of cytochrome-b5 reductase2Dec 11, 2023
Deficiency of hydroxymethylglutaryl-CoA lyase2Dec 11, 2023
Deficiency of iodide peroxidase2Dec 11, 2023
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Dec 11, 2023
Desmoid tumor1Dec 11, 2023
Developmental and epileptic encephalopathy, 111Dec 11, 2022
Developmental and epileptic encephalopathy, 171Dec 14, 2022
Developmental and epileptic encephalopathy, 271Dec 14, 2022
Developmental and epileptic encephalopathy, 312Dec 11, 2023
Developmental and epileptic encephalopathy, 321Dec 14, 2022
Developmental and epileptic encephalopathy, 41Dec 11, 2022
Developmental and epileptic encephalopathy, 422Dec 14, 2022
Developmental and epileptic encephalopathy, 541Dec 11, 2022
Developmental and epileptic encephalopathy, 571Dec 14, 2022
Developmental and epileptic encephalopathy, 661Dec 11, 2023
Developmental and epileptic encephalopathy, 741Dec 11, 2022
Developmental and epileptic encephalopathy, 801Dec 11, 2022
Developmental and epileptic encephalopathy, 811Dec 11, 2022
Developmental delay with autism spectrum disorder and gait instability2Dec 11, 2022
Developmental delay with or without dysmorphic facies and autism1Dec 14, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities1Dec 11, 2023
Developmental delay with variable neurologic and brain abnormalities1Dec 11, 2023
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders1Dec 11, 2023
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Dec 11, 2023
Diamond-Blackfan anemia 31Dec 11, 2022
Diamond-Blackfan anemia 61Dec 14, 2022
Dias-Logan syndrome1Dec 11, 2022
Dilated cardiomyopathy 1A1Dec 11, 2023
Dilated cardiomyopathy 1C1Dec 14, 2022
Dilated cardiomyopathy 1E1Dec 11, 2023
Dilated cardiomyopathy 1G4Dec 11, 2023
Dilated cardiomyopathy 1O1Dec 14, 2022
Dilated cardiomyopathy 1Y1Dec 14, 2022
Dilated cardiomyopathy 1Z1Dec 14, 2022
Distal arthrogryposis1Dec 11, 2023
Distal arthrogryposis type 5D1Dec 14, 2022
Dominant beta-thalassemia2Dec 11, 2022
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Dec 11, 2023
Drash syndrome1Dec 11, 2023
Dubin-Johnson syndrome2Dec 11, 2022
Duchenne muscular dystrophy1Dec 14, 2022
Dyskeratosis congenita, autosomal dominant 23Dec 11, 2023
Dyskeratosis congenita, autosomal dominant 31Dec 11, 2023
Dyskeratosis congenita, autosomal recessive 51Dec 11, 2023
Dyskinesia with orofacial involvement, autosomal dominant1Dec 11, 2022
Dystonia 231Dec 11, 2023
Early-onset Parkinson disease 202Dec 11, 2023
Ectopia lentis 2, isolated, autosomal recessive3Dec 14, 2022
Ehlers-Danlos syndrome, classic type, 12Dec 14, 2022
Ehlers-Danlos syndrome, classic type, 22Dec 11, 2023
Ehlers-Danlos syndrome, type 45Dec 11, 2023
Ehlers-danlos syndrome, arthrochalasia type, 21Dec 11, 2022
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Dec 11, 2023
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Dec 11, 2022
Enhanced S-cone syndrome1Dec 11, 2022
Enterokinase deficiency1Dec 11, 2023
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1Dec 11, 2022
Epilepsy, familial focal, with variable foci 12Dec 11, 2023
Epilepsy, familial focal, with variable foci 21Dec 11, 2022
Epilepsy, familial focal, with variable foci 42Dec 14, 2022
Episodic ataxia type 11Dec 11, 2022
Episodic ataxia type 21Dec 14, 2022
Epithelial-stromal TGFBI dystrophy4Dec 14, 2022
Euthyroid goiter1Dec 11, 2022
Exostoses, multiple, type 11Dec 11, 2022
Exostoses, multiple, type 21Dec 14, 2022
Exudative vitreoretinopathy 11Dec 14, 2022
Exudative vitreoretinopathy 51Dec 11, 2022
Factor V deficiency1Dec 14, 2022
Familial Mediterranean fever3Dec 11, 2023
Familial Mediterranean fever, autosomal dominant1Dec 11, 2023
Familial X-linked hypophosphatemic vitamin D refractory rickets2Dec 11, 2023
Familial adenomatous polyposis 12Dec 11, 2023
Familial adenomatous polyposis 23Dec 11, 2023
Familial adenomatous polyposis 32Dec 11, 2023
Familial cancer of breast84Dec 11, 2023
Familial cold autoinflammatory syndrome1Dec 14, 2022
Familial cold autoinflammatory syndrome 11Dec 11, 2023
Familial cold autoinflammatory syndrome 23Dec 11, 2023
Familial dysfibrinogenemia5Dec 11, 2023
Familial expansile osteolysis1Dec 11, 2022
Familial hemophagocytic lymphohistiocytosis 21Dec 11, 2023
Familial hemophagocytic lymphohistiocytosis 32Dec 11, 2022
Familial hemophagocytic lymphohistiocytosis 52Dec 14, 2022
Familial hyperthyroidism due to mutations in TSH receptor2Dec 14, 2022
Familial hypocalciuric hypercalcemia 13Dec 11, 2023
Familial hypocalciuric hypercalcemia 32Dec 11, 2023
Familial hypokalemia-hypomagnesemia2Dec 11, 2023
Familial infantile myasthenia1Dec 11, 2023
Familial medullary thyroid carcinoma4Dec 11, 2023
Familial meningioma3Dec 11, 2023
Familial ovarian cancer2Dec 11, 2023
Familial porphyria cutanea tarda1Dec 11, 2023
Familial spontaneous pneumothorax2Dec 11, 2023
Familial thoracic aortic aneurysm and aortic dissection3Dec 11, 2023
Familial visceral amyloidosis, Ostertag type1Dec 14, 2022
Fanconi anemia complementation group A2Dec 14, 2022
Fanconi anemia complementation group D11Dec 11, 2023
Fanconi anemia complementation group D21Dec 11, 2023
Fanconi anemia complementation group G1Dec 14, 2022
Fanconi anemia complementation group N1Dec 14, 2022
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2Dec 11, 2022
Farber lipogranulomatosis1Dec 11, 2022
Fetal akinesia deformation sequence 22Dec 14, 2022
Filippi syndrome1Dec 11, 2023
Finnish type amyloidosis2Dec 14, 2022
Fleck corneal dystrophy2Dec 14, 2022
Floating-Harbor syndrome1Dec 11, 2023
Fragile X syndrome1Dec 11, 2022
Freeman-Sheldon syndrome1Dec 11, 2022
Frontometaphyseal dysplasia 11Dec 14, 2022
Frontotemporal dementia1Dec 11, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Dec 11, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 81Dec 11, 2022
GAPO syndrome1Dec 11, 2023
GNE myopathy1Dec 11, 2022
Galloway-Mowat syndrome 11Dec 11, 2023
Gastrointestinal stromal tumor1Dec 11, 2023
Gaucher disease1Dec 14, 2022
Gaucher disease perinatal lethal1Dec 11, 2022
Glanzmann thrombasthenia 12Dec 14, 2022
Glaucoma 1, open angle, A6Dec 14, 2022
Glaucoma 3A2Dec 11, 2022
Glioma susceptibility 11Dec 11, 2022
Global developmental delay1Dec 11, 2022
Glutaric aciduria, type 11Dec 11, 2022
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Dec 11, 2022
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1Dec 11, 2022
Glycogen storage disease type III4Dec 11, 2023
Glycogen storage disease, type II2Dec 11, 2023
Glycogen storage disease, type IV1Dec 11, 2022
Glycogen storage disease, type V1Dec 14, 2022
Gorlin syndrome2Dec 11, 2023
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21Dec 11, 2022
Gray platelet syndrome1Dec 11, 2023
Groenouw corneal dystrophy type I1Dec 11, 2022
Growth delay due to insulin-like growth factor I resistance1Dec 11, 2023
HER2 positive breast carcinoma1Dec 14, 2022
Harel-Yoon syndrome2Dec 11, 2023
Hb SS disease1Dec 11, 2022
Hemorrhage, intracerebral, susceptibility to1Dec 14, 2022
Hennekam lymphangiectasia-lymphedema syndrome 21Dec 11, 2022
Hepatic methionine adenosyltransferase deficiency1Dec 11, 2023
Hereditary antithrombin deficiency4Dec 11, 2023
Hereditary breast ovarian cancer syndrome1Dec 14, 2022
Hereditary cavernous hemangioma of brain1Dec 11, 2023
Hereditary coproporphyria1Dec 14, 2022
Hereditary factor IX deficiency disease6Dec 11, 2023
Hereditary factor VIII deficiency disease52Dec 11, 2023
Hereditary factor XI deficiency disease4Dec 11, 2023
Hereditary hemorrhagic telangiectasia1Dec 11, 2023
Hereditary hyperferritinemia with congenital cataracts1Dec 11, 2022
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome1Dec 14, 2022
Hereditary leiomyomatosis and renal cell cancer2Dec 14, 2022
Hereditary nonpolyposis colorectal carcinoma1Dec 11, 2022
Hereditary pheochromocytoma-paraganglioma3Dec 14, 2022
Hereditary retinoblastoma4Dec 14, 2022
Hereditary spastic paraplegia 151Dec 11, 2022
Hereditary spastic paraplegia 301Dec 14, 2022
Hereditary spastic paraplegia 43Dec 11, 2023
Hereditary spastic paraplegia 73Dec 11, 2023
Hereditary thrombophilia due to congenital protein S deficiency1Dec 11, 2023
Hereditary von Willebrand disease7Dec 11, 2023
Hermansky-Pudlak syndrome1Dec 14, 2022
Hermansky-Pudlak syndrome 11Dec 11, 2023
Hermansky-Pudlak syndrome 63Dec 11, 2023
Hermansky-Pudlak syndrome 71Dec 11, 2022
Heterotopia, periventricular, X-linked dominant1Dec 11, 2022
Hidrotic ectodermal dysplasia syndrome1Dec 11, 2023
Hirschsprung disease, susceptibility to, 11Dec 14, 2022
Hirschsprung disease, susceptibility to, 41Dec 14, 2022
Holoprosencephaly 111Dec 14, 2022
Holoprosencephaly 31Dec 11, 2023
Holt-Oram syndrome1Dec 11, 2022
Hoyeraal-Hreidarsson syndrome1Dec 11, 2023
Hydatidiform mole, recurrent, 11Dec 11, 2023
Hydrocephalus, congenital, 3, with brain anomalies2Dec 11, 2022
Hypercalcemia2Dec 11, 2022
Hypercholesterolemia, autosomal dominant, type B4Dec 11, 2023
Hypercholesterolemia, familial, 113Dec 11, 2023
Hyperekplexia 11Dec 14, 2022
Hyperimmunoglobulin D with periodic fever1Dec 14, 2022
Hyperinsulinemic hypoglycemia, familial, 13Dec 11, 2023
Hyperinsulinemic hypoglycemia, familial, 21Dec 11, 2023
Hyperinsulinism due to INSR deficiency2Dec 11, 2023
Hyperinsulinism-hyperammonemia syndrome2Dec 14, 2022
Hyperlipidemia, familial combined, LPL related2Dec 14, 2022
Hyperparathyroidism1Dec 14, 2022
Hyperparathyroidism 11Dec 11, 2022
Hyperparathyroidism 41Dec 11, 2022
Hypertrichotic osteochondrodysplasia Cantu type1Dec 14, 2022
Hypertrophic cardiomyopathy10Dec 11, 2023
Hypertrophic cardiomyopathy 110Dec 11, 2023
Hypertrophic cardiomyopathy 111Dec 11, 2023
Hypertrophic cardiomyopathy 122Dec 14, 2022
Hypertrophic cardiomyopathy 21Dec 14, 2022
Hypertrophic cardiomyopathy 201Dec 14, 2022
Hypertrophic cardiomyopathy 211Dec 11, 2023
Hypertrophic cardiomyopathy 262Dec 14, 2022
Hypertrophic cardiomyopathy 48Dec 11, 2023
Hypogonadotropic hypogonadism 2 with or without anosmia1Dec 11, 2023
Hypoinsulinemic hypoglycemia and body hemihypertrophy1Dec 14, 2022
Hypokalemic periodic paralysis, type 11Dec 11, 2023
Hypomyelinating leukodystrophy 62Dec 11, 2023
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism3Dec 11, 2023
Hypomyelinating leukodystrophy 91Dec 11, 2022
Hypophosphatasia4Dec 11, 2023
Hypothyroidism due to TSH receptor mutations4Dec 11, 2023
Hypothyroidism, congenital, nongoitrous, 21Dec 11, 2023
Hypothyroidism, congenital, nongoitrous, 81Dec 14, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies1Dec 14, 2022
Idiopathic basal ganglia calcification 11Dec 11, 2023
Immunodeficiency 143Dec 11, 2023
Immunodeficiency 623Dec 11, 2023
Immunodeficiency, common variable, 123Dec 11, 2023
Immunodeficiency, common variable, 31Dec 11, 2022
Immunodeficiency, common variable, 41Dec 11, 2022
Infantile epilepsy syndrome1Dec 11, 2023
Infantile liver failure syndrome 21Dec 14, 2022
Inherited obesity1Dec 11, 2023
Intellectual developmental disorder 612Dec 11, 2023
Intellectual developmental disorder 621Dec 11, 2022
Intellectual developmental disorder with autism and macrocephaly1Dec 11, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Dec 11, 2023
Intellectual developmental disorder with dysmorphic facies and ptosis2Dec 11, 2022
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Dec 11, 2023
Intellectual developmental disorder with seizures and language delay1Dec 11, 2022
Intellectual developmental disorder, X-linked 1081Dec 11, 2023
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1Dec 11, 2023
Intellectual disability2Dec 11, 2023
Intellectual disability, X-linked 1022Dec 11, 2023
Intellectual disability, X-linked 991Dec 11, 2022
Intellectual disability, X-linked syndromic, Turner type2Dec 14, 2022
Intellectual disability, X-linked, syndromic 331Dec 11, 2023
Intellectual disability, X-linked, syndromic, Bain type1Dec 11, 2022
Intellectual disability, autosomal dominant 132Dec 14, 2022
Intellectual disability, autosomal dominant 141Dec 11, 2022
Intellectual disability, autosomal dominant 163Dec 14, 2022
Intellectual disability, autosomal dominant 241Dec 11, 2022
Intellectual disability, autosomal dominant 301Dec 11, 2023
Intellectual disability, autosomal dominant 391Dec 14, 2022
Intellectual disability, autosomal dominant 402Dec 14, 2022
Intellectual disability, autosomal dominant 431Dec 11, 2022
Intellectual disability, autosomal dominant 471Dec 11, 2023
Intellectual disability, autosomal dominant 502Dec 11, 2023
Intellectual disability, autosomal dominant 561Dec 11, 2023
Intellectual disability, autosomal dominant 571Dec 14, 2022
Intellectual disability, autosomal dominant 63Dec 11, 2023
Intellectual disability, autosomal dominant 82Dec 14, 2022
Intellectual disability, autosomal dominant 91Dec 11, 2022
Intellectual disability, autosomal recessive 651Dec 11, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Dec 11, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome2Dec 11, 2022
Interstitial lung disease due to ABCA3 deficiency3Dec 11, 2023
Iodotyrosyl coupling defect4Dec 11, 2023
Islet cell adenomatosis1Dec 14, 2022
Jervell and Lange-Nielsen syndrome 12Dec 11, 2023
Jervell and Lange-Nielsen syndrome 21Dec 14, 2022
Joubert syndrome 31Dec 14, 2022
Juvenile myelomonocytic leukemia1Dec 11, 2023
Juvenile polyposis syndrome1Dec 11, 2023
Juvenile retinoschisis1Dec 11, 2022
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome2Dec 14, 2022
KBG syndrome6Dec 11, 2023
Kabuki syndrome 16Dec 11, 2023
Kabuki syndrome 21Dec 11, 2022
Kleefstra syndrome 11Dec 11, 2023
Kostmann syndrome1Dec 14, 2022
LRP5-related primary osteoporosis1Dec 14, 2022
Lafora disease1Dec 11, 2023
Leber congenital amaurosis 11Dec 11, 2022
Leber congenital amaurosis 41Dec 14, 2022
Left ventricular noncompaction 81Dec 14, 2022
Leri-Weill dyschondrosteosis1Dec 11, 2022
Lessel-Kreienkamp syndrome1Dec 14, 2022
Lethal congenital glycogen storage disease of heart1Dec 14, 2022
Leukocyte adhesion deficiency1Dec 14, 2022
Leukodystrophy and acquired microcephaly with or without dystonia;1Dec 11, 2022
Leukoencephalopathy, diffuse hereditary, with spheroids 11Dec 11, 2022
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome3Dec 11, 2023
Li-Fraumeni syndrome1Dec 14, 2022
Li-Fraumeni syndrome 12Dec 14, 2022
Lissencephaly 9 with complex brainstem malformation1Dec 11, 2022
Loeys-Dietz syndrome 41Dec 11, 2023
Long QT syndrome3Dec 11, 2023
Low phospholipid associated cholelithiasis1Dec 11, 2023
Lymphatic malformation 62Dec 11, 2022
Lynch syndrome10Dec 11, 2023
Lynch syndrome 115Dec 11, 2023
Lynch syndrome 44Dec 14, 2022
Lynch syndrome 518Dec 11, 2023
MASS syndrome1Dec 14, 2022
MED12-related intellectual disability syndrome1Dec 11, 2023
MIRAGE syndrome1Dec 14, 2022
Macrocephaly-autism syndrome2Dec 11, 2023
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2Dec 14, 2022
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss6Dec 11, 2023
Macrothrombocytopenia, isolated, 1, autosomal dominant1Dec 11, 2023
Macular corneal dystrophy4Dec 14, 2022
Macular degeneration, X-linked atrophic1Dec 11, 2023
Majeed syndrome1Dec 14, 2022
Malan overgrowth syndrome1Dec 11, 2022
Malignant hyperthermia, susceptibility to, 15Dec 14, 2022
Malignant tumor of prostate2Dec 11, 2023
Mandibulofacial dysostosis-microcephaly syndrome3Dec 11, 2023
Marden-Walker syndrome1Dec 14, 2022
Marfan syndrome8Dec 11, 2023
Maturity-onset diabetes of the young type 12Dec 14, 2022
Maturity-onset diabetes of the young type 111Dec 14, 2022
Maturity-onset diabetes of the young type 211Dec 11, 2023
Maturity-onset diabetes of the young type 33Dec 14, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Dec 11, 2023
Medulloblastoma1Dec 11, 2023
Megacystis-microcolon-intestinal hypoperistalsis syndrome 51Dec 14, 2022
Melanoma-pancreatic cancer syndrome1Dec 11, 2022
Melnick-Needles syndrome1Dec 11, 2023
Menke-Hennekam syndrome 12Dec 11, 2022
Menke-Hennekam syndrome 21Dec 11, 2023
Merosin deficient congenital muscular dystrophy2Dec 11, 2022
Metaphyseal chondrodysplasia, Jansen type1Dec 11, 2023
Methylmalonic acidemia with homocystinuria, type cblJ1Dec 11, 2022
Methylmalonic aciduria and homocystinuria type cblD1Dec 14, 2022
Microcephaly 5, primary, autosomal recessive1Dec 11, 2022
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Dec 14, 2022
Microcephaly, seizures, and developmental delay1Dec 11, 2023
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2Dec 11, 2023
Mismatch repair cancer syndrome 11Dec 11, 2023
Mitochondrial DNA deletion syndrome with progressive myopathy1Dec 11, 2022
Mitochondrial DNA depletion syndrome 4b1Dec 11, 2023
Mitochondrial complex II deficiency, nuclear type 12Dec 11, 2023
Mitochondrial complex IV deficiency, nuclear type 11Dec 11, 2022
Mitochondrial trifunctional protein deficiency2Dec 11, 2022
Monogenic diabetes1Dec 14, 2022
Monosomy 7 myelodysplasia and leukemia syndrome 21Dec 11, 2023
Mucopolysaccharidosis, MPS-III-A4Dec 14, 2022
Muenke syndrome1Dec 11, 2022
Muir-Torré syndrome3Dec 11, 2023
Mullegama-Klein-Martinez syndrome1Dec 14, 2022
Multiple endocrine neoplasia type 2A7Dec 11, 2023
Multiple endocrine neoplasia, type 13Dec 11, 2023
Multiple endocrine neoplasia, type 25Dec 14, 2022
Multiple epiphyseal dysplasia type 51Dec 11, 2023
Muscular dystrophy, limb-girdle, autosomal recessive 231Dec 14, 2022
Muscular dystrophy, limb-girdle, autosomal recessive 271Dec 14, 2022
Myelodysplastic syndrome1Dec 11, 2022
Myofibrillar myopathy 102Dec 11, 2022
Myofibrillar myopathy 21Dec 14, 2022
Myofibromatosis, infantile, 22Dec 14, 2022
Myoglobinuria, acute recurrent, autosomal recessive1Dec 14, 2022
Nail-patella syndrome2Dec 11, 2022
Nemaline myopathy 25Dec 14, 2022
Neonatal severe primary hyperparathyroidism1Dec 14, 2022
Nephrotic syndrome, type 22Dec 11, 2023
Netherton syndrome2Dec 11, 2023
Neurodegeneration with brain iron accumulation 52Dec 11, 2022
Neurodegeneration, infantile-onset, biotin-responsive1Dec 11, 2022
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities1Dec 11, 2022
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures1Dec 11, 2023
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Dec 11, 2022
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Dec 14, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Dec 11, 2022
Neurodevelopmental disorder with or without seizures and gait abnormalities1Dec 11, 2023
Neurodevelopmental disorder with speech impairment and with or without seizures1Dec 11, 2023
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities1Dec 11, 2022
Neurofibromatosis, type 114Dec 11, 2023
Neurofibromatosis, type 212Dec 11, 2023
Neuronopathy, distal hereditary motor, autosomal recessive 82Dec 11, 2023
Neutropenia1Dec 14, 2022
Neutropenia, severe congenital, 1, autosomal dominant1Dec 11, 2022
Neutropenia, severe congenital, 8, autosomal dominant1Dec 11, 2022
Nicolaides-Baraitser syndrome1Dec 11, 2022
Nizon-Isidor syndrome2Dec 11, 2023
Non-ketotic hyperglycinemia2Dec 11, 2023
Noonan syndrome1Dec 14, 2022
Noonan syndrome 19Dec 11, 2023
Noonan syndrome 102Dec 11, 2023
Noonan syndrome 21Dec 11, 2023
Noonan syndrome 42Dec 11, 2022
Noonan syndrome 81Dec 11, 2022
Obesity due to leptin receptor gene deficiency1Dec 14, 2022
Oculocutaneous albinism1Dec 14, 2022
Okur-Chung neurodevelopmental syndrome1Dec 11, 2023
Ornithine carbamoyltransferase deficiency1Dec 11, 2023
Osteochondritis dissecans1Dec 14, 2022
Osteogenesis imperfecta type I3Dec 14, 2022
Osteogenesis imperfecta, perinatal lethal1Dec 14, 2022
Ovarian neoplasm3Dec 11, 2022
PMM2-congenital disorder of glycosylation1Dec 11, 2022
PTEN hamartoma tumor syndrome1Dec 11, 2023
Palmoplantar keratoderma, Nagashima type1Dec 14, 2022
Pancreatic cancer, susceptibility to, 31Dec 11, 2022
Papillary renal cell carcinoma type 11Dec 14, 2022
Paragangliomas 12Dec 11, 2023
Paragangliomas 31Dec 14, 2022
Paragangliomas 42Dec 11, 2023
Paragangliomas 51Dec 11, 2022
Paramyotonia congenita of Von Eulenburg1Dec 14, 2022
Parkinsonian disorder1Dec 11, 2022
Paroxysmal nonkinesigenic dyskinesia 12Dec 11, 2022
Pendred syndrome2Dec 11, 2022
Peritoneum cancer1Dec 11, 2023
Peters plus syndrome1Dec 11, 2022
Pfeiffer syndrome1Dec 11, 2023
Phenylketonuria6Dec 14, 2022
Phytanic acid storage disease1Dec 11, 2022
Pilarowski-Bjornsson syndrome1Dec 11, 2023
Pilomatrixoma1Dec 11, 2022
Pitt-Hopkins syndrome1Dec 11, 2022
Pitt-Hopkins-like syndrome 22Dec 14, 2022
Platelet-type bleeding disorder 101Dec 11, 2022
Platelet-type bleeding disorder 161Dec 11, 2022
Platelet-type bleeding disorder 173Dec 11, 2023
Platelet-type bleeding disorder 181Dec 11, 2023
Platelet-type bleeding disorder 201Dec 14, 2022
Polycystic kidney disease 3 with or without polycystic liver disease1Dec 14, 2022
Polycystic kidney disease 43Dec 14, 2022
Polycystic kidney disease, adult type4Dec 14, 2022
Polyglandular autoimmune syndrome, type 13Dec 11, 2023
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2Dec 11, 2023
Polyposis syndrome, hereditary mixed, 21Dec 14, 2022
Pontocerebellar hypoplasia type 1B2Dec 11, 2022
Popliteal pterygium syndrome1Dec 14, 2022
Porencephaly 21Dec 11, 2022
Posterior polymorphous corneal dystrophy1Dec 14, 2022
Posterior polymorphous corneal dystrophy 11Dec 11, 2022
Posterior polymorphous corneal dystrophy 31Dec 11, 2023
Primary ciliary dyskinesia4Dec 11, 2023
Primary ciliary dyskinesia 111Dec 14, 2022
Primary ciliary dyskinesia 141Dec 11, 2022
Primary ciliary dyskinesia 154Dec 14, 2022
Primary ciliary dyskinesia 171Dec 14, 2022
Primary ciliary dyskinesia 183Dec 11, 2023
Primary ciliary dyskinesia 201Dec 11, 2022
Primary ciliary dyskinesia 232Dec 14, 2022
Primary ciliary dyskinesia 251Dec 11, 2022
Primary ciliary dyskinesia 291Dec 11, 2023
Primary ciliary dyskinesia 311Dec 14, 2022
Primary ciliary dyskinesia 301Dec 14, 2022
Primary ciliary dyskinesia 333Dec 14, 2022
Primary ciliary dyskinesia 55Dec 14, 2022
Primary ciliary dyskinesia 714Dec 11, 2023
Primary ciliary dyskinesia 91Dec 14, 2022
Primary dilated cardiomyopathy9Dec 11, 2023
Primary myelofibrosis1Dec 14, 2022
Primrose syndrome1Dec 11, 2023
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11Dec 14, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 13Dec 11, 2023
Progressive familial intrahepatic cholestasis2Dec 14, 2022
Progressive familial intrahepatic cholestasis type 12Dec 11, 2022
Progressive familial intrahepatic cholestasis type 31Dec 11, 2023
Progressive sclerosing poliodystrophy1Dec 14, 2022
Prostate cancer, hereditary, 91Dec 11, 2022
Protan defect1Dec 14, 2022
Protoporphyria, erythropoietic, 11Dec 11, 2022
Pseudo von Willebrand disease2Dec 14, 2022
Pseudohypoparathyroidism type I A1Dec 11, 2022
Psoriasis 21Dec 14, 2022
Ptosis, hereditary congenital, 11Dec 11, 2023
Pulmonary alveolar proteinosis with hypogammaglobulinemia1Dec 11, 2023
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 42Dec 11, 2023
Pulmonary hypertension, primary, 11Dec 11, 2022
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1Dec 14, 2022
Pyruvate dehydrogenase E1-alpha deficiency1Dec 11, 2023
Pyruvate kinase deficiency of red cells2Dec 11, 2023
RAB23-related Carpenter syndrome2Dec 14, 2022
RASopathy1Dec 11, 2023
RPE65-related recessive retinopathy4Dec 14, 2022
RYR1-related myopathy1Dec 14, 2022
Renal carnitine transport defect1Dec 11, 2022
Renal cysts and diabetes syndrome1Dec 11, 2022
Renal-hepatic-pancreatic dysplasia 11Dec 11, 2022
Respiratory infections, recurrent, and failure to thrive with or without diarrhea1Dec 11, 2023
Retinal dystrophy6Dec 14, 2022
Retinitis pigmentosa4Dec 14, 2022
Retinitis pigmentosa 14Dec 14, 2022
Retinitis pigmentosa 111Dec 11, 2022
Retinitis pigmentosa 131Dec 11, 2022
Retinitis pigmentosa 191Dec 11, 2022
Retinitis pigmentosa 21Dec 11, 2022
Retinitis pigmentosa 253Dec 14, 2022
Retinitis pigmentosa 281Dec 11, 2022
Retinitis pigmentosa 31Dec 11, 2023
Retinitis pigmentosa 371Dec 11, 2023
Retinitis pigmentosa 381Dec 11, 2022
Retinitis pigmentosa 396Dec 11, 2023
Retinitis pigmentosa 41Dec 11, 2022
Retinitis pigmentosa 402Dec 14, 2022
Retinitis pigmentosa 421Dec 14, 2022
Retinitis pigmentosa 541Dec 14, 2022
Retinitis pigmentosa 551Dec 11, 2022
Retinitis pigmentosa 611Dec 14, 2022
Retinitis pigmentosa 71Dec 14, 2022
Retinitis pigmentosa 731Dec 11, 2022
Retinitis pigmentosa 741Dec 14, 2022
Retinitis pigmentosa 782Dec 14, 2022
Retinitis pigmentosa 901Dec 14, 2022
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1Dec 11, 2023
Retinoblastoma16Dec 11, 2023
Rett syndrome1Dec 11, 2023
Rhabdoid tumor predisposition syndrome 11Dec 14, 2022
Rhabdomyosarcoma, embryonal, 21Dec 11, 2022
Rienhoff syndrome1Dec 11, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations2Dec 11, 2023
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Dec 11, 2023
Saethre-Chotzen syndrome1Dec 14, 2022
Sarcosine dehydrogenase deficiency1Dec 11, 2023
Schaaf-Yang syndrome1Dec 11, 2023
Schimke immuno-osseous dysplasia1Dec 11, 2023
Schnyder crystalline corneal dystrophy1Dec 14, 2022
Schwannomatosis 13Dec 14, 2022
Schwannomatosis 210Dec 11, 2023
Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities1Dec 14, 2022
Severe combined immunodeficiency due to IKK2 deficiency1Dec 11, 2023
Severe early-childhood-onset retinal dystrophy4Dec 11, 2022
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans1Dec 14, 2022
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay2Dec 11, 2022
Shukla-Vernon syndrome2Dec 11, 2023
Shwachman-Diamond syndrome 11Dec 11, 2023
Sick sinus syndrome1Dec 11, 2023
Sifrim-Hitz-Weiss syndrome1Dec 11, 2023
Simpson-Golabi-Behmel syndrome type 11Dec 11, 2022
Sitosterolemia 12Dec 11, 2023
Sitosterolemia 22Dec 11, 2023
Skeletal dysplasia2Dec 11, 2022
Skraban-Deardorff syndrome1Dec 11, 2022
Smith-Lemli-Opitz syndrome2Dec 14, 2022
Smith-Magenis syndrome1Dec 11, 2022
Snijders Blok-Campeau syndrome2Dec 11, 2023
Sotos syndrome2Dec 11, 2023
Spastic ataxia 51Dec 11, 2023
Spastic paraplegia 52, autosomal recessive1Dec 14, 2022
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Dec 11, 2023
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Dec 14, 2022
Spinocerebellar ataxia 441Dec 11, 2022
Spinocerebellar ataxia 471Dec 11, 2022
Spinocerebellar ataxia 481Dec 11, 2022
Spinocerebellar ataxia type 111Dec 11, 2023
Spinocerebellar ataxia type 211Dec 11, 2022
Spinocerebellar ataxia type 291Dec 11, 2023
Spinocerebellar ataxia type 421Dec 11, 2022
Spinocerebellar ataxia type 61Dec 14, 2022
Split hand-foot malformation 61Dec 11, 2023
Spondylocarpotarsal synostosis syndrome1Dec 11, 2022
Spondyloepimetaphyseal dysplasia with multiple dislocations1Dec 14, 2022
Spondyloperipheral dysplasia1Dec 14, 2022
Stickler syndrome type 11Dec 11, 2022
Stickler syndrome type 22Dec 11, 2022
Stickler syndrome, type 42Dec 11, 2023
Stickler syndrome, type I, nonsyndromic ocular2Dec 14, 2022
Sucrase-isomaltase deficiency2Dec 11, 2023
Syndromic X-linked intellectual disability 942Dec 11, 2022
Syndromic X-linked intellectual disability Claes-Jensen type3Dec 11, 2023
Syndromic X-linked intellectual disability Hedera type1Dec 11, 2022
Syndromic X-linked intellectual disability Lubs type1Dec 14, 2022
Syndromic intellectual disability1Dec 11, 2023
TNF receptor-associated periodic fever syndrome (TRAPS)2Dec 14, 2022
Telangiectasia, hereditary hemorrhagic, type 12Dec 14, 2022
Telangiectasia, hereditary hemorrhagic, type 26Dec 11, 2023
Thanatophoric dysplasia type 11Dec 14, 2022
Thanatophoric dysplasia, type 21Dec 11, 2023
Thiel-Behnke corneal dystrophy1Dec 11, 2022
Thrombocytopenia3Dec 11, 2023
Thrombocytopenia 27Dec 11, 2023
Thrombocytopenia 51Dec 11, 2023
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1Dec 11, 2022
Thrombophilia due to protein C deficiency, autosomal dominant2Dec 14, 2022
Thrombophilia due to protein S deficiency, autosomal dominant2Dec 11, 2023
Thyroid dyshormonogenesis 610Dec 11, 2023
Timothy syndrome1Dec 11, 2022
Tooth agenesis, selective, 41Dec 11, 2023
Tooth agenesis, selective, X-linked, 11Dec 14, 2022
Townes-Brocks syndrome 13Dec 11, 2022
Treacher Collins syndrome 11Dec 11, 2022
Trichorhinophalangeal dysplasia type I2Dec 11, 2023
Triglyceride storage disease with ichthyosis1Dec 14, 2022
Triosephosphate isomerase deficiency2Dec 11, 2022
Tuberous sclerosis 11Dec 11, 2022
Tuberous sclerosis 26Dec 11, 2023
Type 1 diabetes mellitus 202Dec 14, 2022
Type 2 diabetes mellitus1Dec 14, 2022
Tyrosinase-negative oculocutaneous albinism2Dec 11, 2022
Uncombable hair syndrome 12Dec 11, 2022
Upshaw-Schulman syndrome2Dec 14, 2022
Usher syndrome type 11Dec 11, 2023
Usher syndrome type 1C2Dec 14, 2022
Usher syndrome type 2A7Dec 14, 2022
Usher syndrome type 2C4Dec 14, 2022
Uveal melanoma1Dec 11, 2022
Van der Woude syndrome 11Dec 11, 2022
Vanishing white matter disease2Dec 14, 2022
Variegate porphyria2Dec 11, 2022
Vasculitis due to ADA2 deficiency1Dec 14, 2022
Very long chain acyl-CoA dehydrogenase deficiency4Dec 14, 2022
Vitelliform macular dystrophy 23Dec 14, 2022
Von Hippel-Lindau syndrome7Dec 11, 2023
Von Willebrand disease type 2B3Dec 11, 2023
Weaver syndrome1Dec 11, 2023
Wiedemann-Steiner syndrome2Dec 11, 2023
Wilms tumor 12Dec 11, 2023
Wilson disease3Dec 11, 2022
Wiskott-Aldrich syndrome 21Dec 11, 2022
Wolfram syndrome 11Dec 14, 2022
X-linked Alport syndrome5Dec 11, 2023
X-linked central congenital hypothyroidism with late-onset testicular enlargement1Dec 14, 2022
X-linked chondrodysplasia punctata 11Dec 11, 2022
X-linked cone-rod dystrophy 11Dec 11, 2023
X-linked ichthyosis with steryl-sulfatase deficiency3Dec 14, 2022
X-linked intellectual disability, Stocco dos Santos type1Dec 14, 2022
X-linked intellectual disability, van Esch type1Dec 14, 2022
X-linked intellectual disability-cerebellar hypoplasia syndrome1Dec 11, 2022
X-linked intellectual disability-short stature-overweight syndrome1Dec 11, 2023
X-linked sideroblastic anemia 11Dec 11, 2023
Xeroderma pigmentosum, group D2Dec 11, 2022
alpha Thalassemia5Dec 11, 2023
beta Thalassemia2Dec 11, 2023
von Willebrand disease type 15Dec 11, 2023
von Willebrand disease type 230Dec 11, 2023
von Willebrand disease type 33Dec 14, 2022

Testing in GTR

Disease nameNumber of tests
Abortive cerebellar ataxia1 test
Aniridia 11 test
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 41 test
Anterior segment dysgenesis 61 test
Autosomal dominant keratitis1 test
Autosomal dominant optic atrophy classic form1 test
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 31 test
Cataract 401 test
Coloboma of optic nerve1 test
Congenital ocular coloboma1 test
Corneal dystrophy, lattice type 3A1 test
Epithelial basement membrane dystrophy1 test
Foveal hypoplasia 11 test
Glaucoma 1, open angle, A1 test
Glaucoma 3, primary infantile, B1 test
Glaucoma 3A1 test
Glaucoma, normal tension, susceptibility to1 test
Groenouw corneal dystrophy type I1 test
Hereditary hyperferritinemia with congenital cataracts1 test
Irido-corneo-trabecular dysgenesis1 test
Isolated microphthalmia 51 test
Isolated optic nerve hypoplasia1 test
L-ferritin deficiency1 test
Lattice corneal dystrophy Type I1 test
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Nance-Horan syndrome1 test
Nanophthalmos 21 test
Neuroferritinopathy1 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Reis-Bucklers' corneal dystrophy1 test
Thiel-Behnke corneal dystrophy1 test