Institute of Medical Genetics and Applied Genomics (University Hospital Tübingen), IMGAG

General information

Institute of Medical Genetics and Applied Genomics, IMGAG
University Hospital Tübingen
Calwerstr. 6
Tübingen
Baden-Wurttemberg
Germany - 72076
http://www.medgen-tuebingen.de/
Organization ID: 506385

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 2391

Gene

GeneSubmissionsLast Updated
AAAS1Oct 23, 2020
AAGAB1Oct 23, 2020
AARS12Oct 23, 2020
ABCA470Sep 15, 2021
ABCD112Feb 1, 2021
ABCG51Sep 15, 2021
ABHD14A-ACY11Oct 23, 2020
ABHD16A1Sep 30, 2021
ACAD91Oct 23, 2020
ACADVL1Feb 1, 2021
ACAN1Oct 23, 2020
ACO22Feb 1, 2021
ACOX11Oct 23, 2020
ACTB4Oct 23, 2020
ACTG21Oct 23, 2020
ACY11Oct 23, 2020
ADAMTS101Oct 23, 2020
ADAMTSL21Oct 23, 2020
ADAR2Oct 23, 2020
ADCY51Oct 23, 2020
ADGRG11Jun 17, 2021
ADGRV14Oct 23, 2020
ADNP9Jun 17, 2021
ADSL1Oct 23, 2020
AFG3L22Jun 17, 2021
AGTR12Jun 17, 2021
AHCY1Oct 23, 2020
AHDC13Oct 23, 2020
AIPL11Oct 23, 2020
ALDH18A11Oct 23, 2020
ALDH3A21Oct 23, 2020
ALDH7A12Feb 1, 2021
ALG131Oct 23, 2020
ALK1Oct 23, 2020
ALMS15Jun 17, 2021
ALS22Jun 17, 2021
AMPD12Oct 23, 2020
ANK14Jun 17, 2021
ANKRD1118Jun 17, 2021
ANO103Oct 23, 2020
ANO31Oct 23, 2020
ANO59Oct 23, 2020
AP3B21Oct 23, 2020
AP4S12Oct 23, 2020
APC7Jun 17, 2021
APOB1Oct 23, 2020
APTX1Jun 17, 2021
AR1Feb 1, 2021
ARID1B17Sep 15, 2021
ARSA4Oct 23, 2020
ARSB1Oct 23, 2020
ARSG1Sep 15, 2021
ARV11Feb 1, 2021
ARX3Jun 17, 2021
ASPH1Jun 17, 2021
ASPM5Sep 22, 2021
ASS11Oct 23, 2020
ASXL11Oct 23, 2020
ASXL21Oct 23, 2020
ASXL34Feb 1, 2021
ATAD3A1Oct 23, 2020
ATL18Sep 15, 2021
ATM37Sep 15, 2021
ATN11Sep 30, 2021
ATP1A21Feb 1, 2021
ATP1A32Jun 17, 2021
ATP2A22Oct 23, 2020
ATP7B2Feb 1, 2021
ATP8A21Oct 23, 2020
ATRX3Oct 23, 2020
BAG32Oct 23, 2020
BAP11Oct 23, 2020
BARD15Oct 12, 2021
BBS11Oct 23, 2020
BBS101Feb 1, 2021
BBS22Oct 23, 2020
BBS73Oct 23, 2020
BCL11A7Oct 23, 2020
BCL11B4Sep 15, 2021
BCL2L2-PABPN12Oct 23, 2020
BCOR2Oct 23, 2020
BEST113Sep 15, 2021
BICD21Oct 23, 2020
BICRA1Feb 1, 2021
BMPER1Oct 23, 2020
BRAF2Oct 23, 2020
BRCA149Sep 15, 2021
BRCA256Sep 15, 2021
BRIP16Feb 1, 2021
BRPF13Oct 23, 2020
BRSK21Jun 17, 2021
BRWD32Oct 23, 2020
BSCL21Oct 23, 2020
BTD2Oct 23, 2020
BTK1Oct 23, 2020
BUB1B1Oct 23, 2020
C11orf6515Jun 17, 2021
C12orf41Oct 23, 2020
C19orf121Oct 23, 2020
C1QTNF52Jun 17, 2021
CACNA1A14Feb 1, 2021
CACNA1F4Sep 15, 2021
CACNA1G1Oct 23, 2020
CACNA1S1Jun 17, 2021
CAMK2B1Sep 15, 2021
CAPN16Oct 23, 2020
CAPN33Oct 23, 2020
CARD141Oct 23, 2020
CASD14Feb 1, 2021
CASK3Oct 23, 2020
CBL1Oct 23, 2020
CBS5Jun 17, 2021
CCDC821Oct 23, 2020
CCN62Oct 23, 2020
CCND21Oct 23, 2020
CCNH1Oct 23, 2020
CD191Oct 23, 2020
CDAN11Oct 23, 2020
CDC421Oct 23, 2020
CDH12Oct 23, 2020
CDH111Oct 23, 2020
CDH233Sep 15, 2021
CDH23-AS11Sep 15, 2021
CDHR15Jun 17, 2021
CDK101Oct 23, 2020
CDK133Feb 1, 2021
CDK5RAP21Oct 23, 2020
CDKL59Sep 15, 2021
CDKN1C1Oct 23, 2020
CDKN2A1Jun 17, 2021
CEP1202Oct 23, 2020
CEP2501Oct 23, 2020
CEP2908Jun 17, 2021
CEP784Jun 17, 2021
CERKL4Oct 23, 2020
CERT11Feb 1, 2021
CFAP4102Oct 23, 2020
CFTR2Oct 23, 2020
CHAMP12Oct 23, 2020
CHAT1Jun 17, 2021
CHCHD102Oct 23, 2020
CHD26Oct 23, 2020
CHD32Jun 17, 2021
CHD77Feb 1, 2021
CHD86Oct 23, 2020
CHEK212Sep 15, 2021
CHM9Sep 15, 2021
CHRND1Feb 1, 2021
CHRNG1Sep 15, 2021
CIC3Oct 23, 2020
CLASP12Oct 23, 2020
CLCN12Oct 23, 2020
CLCN21Sep 22, 2021
CLCN51Oct 23, 2020
CLP11Oct 23, 2020
CLPB1Oct 23, 2020
CLRN13Sep 15, 2021
CLTC2Sep 22, 2021
CNGA11Oct 23, 2020
CNGA310Sep 15, 2021
CNGB12Feb 1, 2021
CNGB34Jun 17, 2021
CNKSR22Sep 15, 2021
CNTNAP11Feb 1, 2021
CNTNAP21Oct 23, 2020
COL11A11Oct 23, 2020
COL11A21Oct 23, 2020
COL12A12Oct 23, 2020
COL18A12Oct 23, 2020
COL1A12Oct 23, 2020
COL1A22Oct 23, 2020
COL2A13Feb 1, 2021
COL3A12Oct 23, 2020
COL4A12Oct 23, 2020
COL5A11Oct 23, 2020
COL6A21Jun 17, 2021
COMP1Oct 23, 2020
COQ43Oct 23, 2020
COQ8A3Oct 23, 2020
CP1Oct 23, 2020
CPEB1-AS11Oct 23, 2020
CPT21Oct 23, 2020
CR21Oct 23, 2020
CRB112Sep 23, 2021
CRBN1Oct 23, 2020
CREBBP3Oct 23, 2020
CRX3Oct 23, 2020
CSF1R3Oct 23, 2020
CSNK2B1Sep 15, 2021
CSPP11Oct 23, 2020
CTBP11Oct 23, 2020
CTBP1-AS1Oct 23, 2020
CTC12Oct 23, 2020
CTNNB16Jun 17, 2021
CTNS1Jun 17, 2021
CTSF2Oct 23, 2020
CTSK1Feb 1, 2021
CUL34Oct 23, 2020
CUL4B1Oct 23, 2020
CWC271Oct 23, 2020
CWF19L12Oct 23, 2020
CXCR41Jun 17, 2021
CYFIP21Oct 23, 2020
CYGB2Oct 23, 2020
CYP11B21Oct 23, 2020
CYP1B13Feb 1, 2021
CYP27A19Oct 23, 2020
CYP2U12Oct 23, 2020
CYP4V21Oct 23, 2020
CYP7B13Oct 23, 2020
DACT11Jun 17, 2021
DARS21Oct 23, 2020
DCAF171Sep 15, 2021
DDB21Oct 23, 2020
DDHD11Oct 23, 2020
DDX3X6Oct 23, 2020
DEAF11Jun 17, 2021
DENND5A1Oct 23, 2020
DEPDC51Oct 23, 2020
DES1Oct 23, 2020
DHCR73Oct 23, 2020
DHDDS1Feb 1, 2021
DIABLO1Sep 22, 2021
DIPK1A2Oct 23, 2020
DLD1Oct 23, 2020
DLG33Jun 17, 2021
DLG3-AS11Oct 23, 2020
DLG42Feb 1, 2021
DLL11Oct 23, 2020
DMD2Jun 17, 2021
DNAH52Oct 23, 2020
DNAH92Oct 23, 2020
DNAJC301Feb 1, 2021
DNM12Oct 23, 2020
DNM21Oct 23, 2020
DNMT3A1Oct 23, 2020
DNMT3B1Oct 23, 2020
DOCK71Oct 23, 2020
DPYS1Oct 23, 2020
DSG22Oct 23, 2020
DSG2-AS11Oct 23, 2020
DSP2Feb 1, 2021
DSPP1Oct 23, 2020
DUOX22Oct 23, 2020
DUSP291Feb 1, 2021
DYNC1H11Oct 23, 2020
DYNC2H12Jun 17, 2021
DYNC2LI11Sep 15, 2021
DYRK1A7Sep 15, 2021
EBF33Feb 1, 2021
ECM12Oct 23, 2020
EEF1A22Oct 23, 2020
EFTUD21Oct 23, 2020
EGR21Oct 23, 2020
EHMT19Sep 15, 2021
EIF2B54Jun 17, 2021
ELANE2Oct 23, 2020
ELOVL41Sep 15, 2021
EMD1Sep 15, 2021
ENG1Oct 23, 2020
EP3003Feb 1, 2021
ERCC21Oct 23, 2020
ERCC43Oct 23, 2020
ERF2Oct 23, 2020
ESCO21Oct 23, 2020
EXOSC31Oct 23, 2020
EXT22Oct 23, 2020
EYS18Sep 23, 2021
EZH21Oct 23, 2020
FAM111B1Oct 23, 2020
FAM161A6Sep 15, 2021
FANCA2Sep 15, 2021
FARS21Jun 17, 2021
FBN17Oct 23, 2020
FBXO115Oct 23, 2020
FGD12Feb 1, 2021
FGF121Oct 23, 2020
FGF31Feb 1, 2021
FGFR23Feb 1, 2021
FGFR32Jun 17, 2021
FHL11Sep 15, 2021
FIG43Oct 23, 2020
FITM21Oct 23, 2020
FKBP141Oct 23, 2020
FKBP14-AS11Oct 23, 2020
FLG1Oct 23, 2020
FLNA1Oct 23, 2020
FLNC3Oct 23, 2020
FLNC-AS12Oct 23, 2020
FLVCR15Oct 23, 2020
FMR11Oct 23, 2020
FOXC11Oct 23, 2020
FOXG15Jun 17, 2021
FOXP17Sep 15, 2021
FOXP25Feb 1, 2021
FOXP31Oct 23, 2020
FOXRED12Oct 23, 2020
FRMD72Oct 23, 2020
FUCA11Oct 23, 2020
FZD42Oct 23, 2020
G6PC12Jun 17, 2021
G6PC33Oct 23, 2020
G6PD3Oct 23, 2020
GAA1Feb 1, 2021
GABBR21Oct 23, 2020
GABRA11Oct 23, 2020
GALC3Jun 17, 2021
GALNS2Sep 15, 2021
GAMT1Jun 17, 2021
GAREM21Jun 17, 2021
GARS11Jun 17, 2021
GATA21Oct 23, 2020
GATAD2B2Oct 23, 2020
GBA1Sep 15, 2021
GBA21Oct 23, 2020
GCH12Oct 23, 2020
GDAP11Jun 17, 2021
GFAP2Oct 23, 2020
GFPT12Jun 17, 2021
GJA11Oct 23, 2020
GJB12Oct 23, 2020
GJB28Sep 15, 2021
GLB13Oct 23, 2020
GLI32Oct 23, 2020
GLMN1Oct 23, 2020
GLRA12Oct 23, 2020
GML1Oct 23, 2020
GMPPB1Oct 23, 2020
GNAI11Oct 23, 2020
GNAO12Oct 23, 2020
GNB12Feb 1, 2021
GNE2Oct 23, 2020
GP91Sep 15, 2021
GPC31Jun 17, 2021
GPR1431Oct 23, 2020
GPR1792Jun 17, 2021
GRIA31Jun 17, 2021
GRIN11Oct 23, 2020
GRIN2A2Oct 23, 2020
GRIN2B1Oct 23, 2020
GRN4Jun 17, 2021
GSDME1Sep 15, 2021
GUCA1A4Sep 15, 2021
GUCY2D2Jun 17, 2021
H1-41Oct 23, 2020
HADHA1Jun 17, 2021
HAX11Oct 23, 2020
HBA-LCR1Jun 17, 2021
HBB1Oct 23, 2020
HEXA4Jun 17, 2021
HEXB1Jun 17, 2021
HFE2Sep 15, 2021
HFE-AS11Sep 15, 2021
HIBCH1Oct 23, 2020
HIVEP21Oct 23, 2020
HK12Jun 17, 2021
HMGB11Sep 15, 2021
HNF4A1Oct 23, 2020
HNRNPH21Oct 23, 2020
HNRNPK3Oct 23, 2020
HNRNPU2Jun 17, 2021
HNRNPUL2-BSCL21Oct 23, 2020
HOXD131Oct 23, 2020
HPDL3Oct 23, 2020
HPS31Oct 23, 2020
HPS41Oct 23, 2020
HSD17B31Oct 23, 2020
HSPB13Oct 23, 2020
HSPD11Oct 23, 2020
HTRA11Jun 17, 2021
IFIH12Sep 15, 2021
IFT1404Oct 23, 2020
IGF21Sep 15, 2021
IKZF11Oct 23, 2020
IL17RC1Sep 15, 2021
IL1RAPL11Jun 17, 2021
IMPDH11Oct 23, 2020
IMPG11Sep 15, 2021
IMPG22Sep 15, 2021
INCA15Jun 17, 2021
INS-IGF21Sep 15, 2021
IQCB13Jun 17, 2021
IQSEC23Sep 22, 2021
IRAK1BP11Jun 17, 2021
IRF2BPL3Oct 23, 2020
ITGA2B2Oct 23, 2020
ITGA31Feb 1, 2021
ITGA41Oct 23, 2020
ITPR12Oct 23, 2020
JAGN11Oct 23, 2020
JMJD81Feb 1, 2021
KANSL12Oct 23, 2020
KAT6A4Oct 23, 2020
KAT6B3Feb 1, 2021
KCNA23Oct 23, 2020
KCNB11Oct 23, 2020
KCNC11Oct 23, 2020
KCNC31Sep 15, 2021
KCND34Oct 23, 2020
KCNE11Oct 23, 2020
KCNH22Oct 23, 2020
KCNJ23Oct 23, 2020
KCNK91Oct 23, 2020
KCNQ14Sep 15, 2021
KCNQ24Sep 22, 2021
KCNQ31Oct 23, 2020
KCNQ51Oct 23, 2020
KCNT12Oct 23, 2020
KCNV22Jun 17, 2021
KDM5C6Sep 15, 2021
KDM6A1Oct 23, 2020
KDM6B3Oct 23, 2020
KIAA05863Oct 23, 2020
KIAA11093Oct 23, 2020
KIDINS2201Oct 23, 2020
KIF111Oct 23, 2020
KIF1A10Jun 17, 2021
KIF1C9Jun 17, 2021
KIF21A1Oct 23, 2020
KIF5A10Sep 15, 2021
KLF71Oct 23, 2020
KLHL401Oct 23, 2020
KLHL74Jun 17, 2021
KMT2A7Oct 23, 2020
KMT2B2Sep 15, 2021
KMT2D4Oct 23, 2020
KMT2E1Oct 23, 2020
KMT5B4Oct 23, 2020
KPTN2Oct 23, 2020
KRAS1Oct 23, 2020
KRIT11Feb 1, 2021
KRT161Oct 23, 2020
KRT51Oct 23, 2020
KRT6A1Oct 23, 2020
LAMA12Oct 23, 2020
LAMA21Oct 23, 2020
LAMP23Feb 1, 2021
LARP72Oct 23, 2020
LDLR3Sep 15, 2021
LIPT21Oct 23, 2020
LIX1L-AS11Oct 23, 2020
LMNA3Sep 15, 2021
LOC1002878961Oct 23, 2020
LOC1005073463Jun 17, 2021
LOC1019271571Oct 23, 2020
LOC1053710461Oct 23, 2020
LOC1053710491Oct 23, 2020
LOC1060990621Oct 23, 2020
LOC1066279811Sep 15, 2021
LOC1067998341Oct 23, 2020
LOC1071335101Oct 23, 2020
LOC1073723151Oct 23, 2020
LOC1076524451Oct 23, 2020
LOC1091159641Feb 1, 2021
LOC1096106311Jun 17, 2021
LOC1100112161Oct 23, 2020
LOC1113652041Oct 23, 2020
LOC1116744721Oct 23, 2020
LOC1139399441Oct 23, 2020
LOC1153081611Oct 23, 2020
LOC1181427574Sep 15, 2021
LOXHD11Oct 23, 2020
LRP51Feb 1, 2021
LRRK21Oct 23, 2020
LRSAM11Oct 23, 2020
LZTR15Jun 17, 2021
MAF1Feb 1, 2021
MAGEL22Oct 23, 2020
MAK2Sep 15, 2021
MAN2B13Oct 23, 2020
MAP2K12Jun 17, 2021
MAP2K21Oct 23, 2020
MAPK8IP31Jun 17, 2021
MAPT1Oct 23, 2020
MARVELD21Feb 1, 2021
MASP11Jun 17, 2021
MBD52Oct 23, 2020
MC2R2Jun 17, 2021
MC4R2Sep 15, 2021
MEA14Oct 23, 2020
MECP220Sep 15, 2021
MED121Oct 23, 2020
MED13L5Sep 15, 2021
MEFV6Feb 1, 2021
MEIS21Oct 23, 2020
MERTK9Sep 15, 2021
METTL232Jun 17, 2021
METTL51Oct 23, 2020
MFN22Oct 23, 2020
MFRP2Jun 17, 2021
MHRT2Oct 23, 2020
MIR302CHG2Oct 23, 2020
MIR3936HG1Oct 23, 2020
MIR50041Oct 23, 2020
MITF3Jun 17, 2021
MKKS1Oct 23, 2020
MLH14Sep 22, 2021
MME1Oct 23, 2020
MMP212Sep 15, 2021
MPDZ1Oct 23, 2020
MPL1Jun 17, 2021
MPZ8Sep 15, 2021
MRPS221Oct 23, 2020
MSH22Feb 1, 2021
MSH65Sep 15, 2021
MT-ATP65Jun 17, 2021
MT-CO11Oct 23, 2020
MT-ND11Oct 23, 2020
MT-ND41Oct 23, 2020
MT-ND51Oct 23, 2020
MT-TL11Oct 23, 2020
MT-TS12Jun 17, 2021
MT-TW1Oct 23, 2020
MTHFR2Jun 17, 2021
MTM12Jun 17, 2021
MUTYH7Jun 17, 2021
MVK2Oct 23, 2020
MYBPC310Feb 1, 2021
MYH21Oct 23, 2020
MYH31Oct 23, 2020
MYH61Jun 17, 2021
MYH710Sep 15, 2021
MYH92Sep 15, 2021
MYHAS1Oct 23, 2020
MYO61Sep 15, 2021
MYO7A15Sep 15, 2021
MYORG1Oct 23, 2020
MYOT1Oct 23, 2020
NAA102Oct 23, 2020
NAA152Jun 17, 2021
NACC11Oct 23, 2020
NAGA1Oct 23, 2020
NAGLU2Oct 23, 2020
NALCN2Sep 15, 2021
NBAS1Oct 23, 2020
NBEA4Feb 1, 2021
NCAPH21Oct 23, 2020
NDP1Oct 23, 2020
NDP-AS11Oct 23, 2020
NEB2Jun 17, 2021
NEFL2Sep 15, 2021
NEK92Oct 23, 2020
NEXMIF3Oct 23, 2020
NF124Sep 15, 2021
NF21Sep 15, 2021
NFIA1Jun 17, 2021
NFIB1Jun 17, 2021
NFIX1Oct 23, 2020
NGLY12Oct 23, 2020
NHLRC11Jun 17, 2021
NIPA11Oct 23, 2020
NIPBL2Feb 1, 2021
NKX2-12Jun 17, 2021
NOTCH11Sep 22, 2021
NOTCH37Sep 15, 2021
NPC13Oct 23, 2020
NPHS11Oct 23, 2020
NPRL31Jun 17, 2021
NPTX11Jun 17, 2021
NR2E35Jun 17, 2021
NR2F11Oct 23, 2020
NSD13Sep 22, 2021
NTRK21Jun 17, 2021
NUS12Oct 23, 2020
NYX2Oct 23, 2020
OCLN2Oct 23, 2020
OCRL2Oct 23, 2020
OFD12Oct 23, 2020
OPA113Sep 15, 2021
OPHN12Oct 23, 2020
OPTN1Oct 23, 2020
OSBPL21Oct 23, 2020
OSGEP1Oct 23, 2020
OTOG2Jun 17, 2021
P2RX21Oct 23, 2020
PABPN12Oct 23, 2020
PAK11Oct 23, 2020
PALB217Jun 17, 2021
PANK25Oct 23, 2020
PARK71Oct 23, 2020
PAX21Jun 17, 2021
PAX31Sep 15, 2021
PAX63Sep 15, 2021
PAX81Oct 23, 2020
PAX8-AS11Oct 23, 2020
PCARE8Jun 17, 2021
PCCB2Oct 23, 2020
PCDH155Sep 15, 2021
PCDH194Jun 17, 2021
PDE4D1Oct 23, 2020
PDE6A11Sep 15, 2021
PDE6B2Jun 17, 2021
PDE6B-AS11Jun 17, 2021
PDE8B2Jun 17, 2021
PDHA17Sep 15, 2021
PDHX1Oct 23, 2020
PDYN1Oct 23, 2020
PDYN-AS11Oct 23, 2020
PEX121Oct 23, 2020
PEX131Oct 23, 2020
PEX61Oct 23, 2020
PGAP13Sep 15, 2021
PHEX1Oct 23, 2020
PHF33Oct 23, 2020
PHF81Oct 23, 2020
PHIP5Jun 17, 2021
PHKA11Oct 23, 2020
PHOX2B3Oct 23, 2020
PHOX2B-AS11Oct 23, 2020
PHYH1Jun 17, 2021
PIEZO24Oct 23, 2020
PIGG4Oct 23, 2020
PIGN1Oct 23, 2020
PIGP1Jun 17, 2021
PIGV1Oct 23, 2020
PIGW1Oct 23, 2020
PIK3CA3Jun 17, 2021
PIK3CD1Oct 23, 2020
PINK11Oct 23, 2020
PINK1-AS1Oct 23, 2020
PJVK1Oct 23, 2020
PKD13Jun 17, 2021
PKD2L2-DT1Oct 23, 2020
PKHD11Oct 23, 2020
PKP25Jun 17, 2021
PLA2G63Oct 23, 2020
PMM25Sep 15, 2021
PMP222Oct 23, 2020
PMS24Sep 22, 2021
PNKP3Oct 23, 2020
PNPLA65Jun 17, 2021
POC1B1Oct 23, 2020
POGZ6Sep 15, 2021
POLG10Jun 17, 2021
POLR2F1Oct 23, 2020
POLR3A11Oct 23, 2020
POLR3B5Feb 1, 2021
POMGNT12Oct 23, 2020
POMT11Sep 15, 2021
PPP1CB1Oct 23, 2020
PPP2R5D4Oct 23, 2020
PPT12Oct 23, 2020
PQBP11Oct 23, 2020
PRCD2Oct 23, 2020
PRDM131Oct 23, 2020
PREPL1Oct 23, 2020
PRKAR1A1Sep 15, 2021
PRKAR1B1Sep 15, 2021
PRKCG3Sep 22, 2021
PRKN1Oct 23, 2020
PRMT71Oct 23, 2020
PRNP1Oct 23, 2020
PROM12Jun 17, 2021
PRPF318Sep 15, 2021
PRPF41Oct 23, 2020
PRPF84Jun 17, 2021
PRPH212Sep 15, 2021
PRR121Oct 23, 2020
PRRT21Sep 15, 2021
PRSS232Oct 23, 2020
PRUNE11Jun 17, 2021
PSEN14Jun 17, 2021
PSMD122Oct 23, 2020
PTCH15Jun 17, 2021
PTCHD11Oct 23, 2020
PTCHD1-AS1Oct 23, 2020
PTEN8Sep 15, 2021
PTPN1113Oct 4, 2021
PTPRA2Jun 17, 2021
PTPRQ2Feb 1, 2021
PTS1Oct 23, 2020
PURA8Oct 13, 2021
PYCR11Jun 17, 2021
PYGM1Jun 17, 2021
PYROXD12Oct 23, 2020
RAB33B2Sep 15, 2021
RAB3GAP11Oct 23, 2020
RAD51C6Sep 15, 2021
RAD51D4Oct 23, 2020
RAD51L3-RFFL4Oct 23, 2020
RAF11Oct 23, 2020
RAI17Jun 17, 2021
RANBP21Feb 1, 2021
RASA11Oct 23, 2020
RB11Jun 17, 2021
RBM201Oct 23, 2020
RBM8A1Oct 23, 2020
RDH121Oct 23, 2020
REEP15Jun 17, 2021
REEP61Sep 15, 2021
RETREG11Sep 22, 2021
RETREG1-AS11Sep 22, 2021
RHO6Sep 15, 2021
RHOBTB23Oct 23, 2020
RIT13Sep 15, 2021
RLBP11Oct 23, 2020
RNASEH2B1Oct 23, 2020
RNF1701Jun 17, 2021
RNU4ATAC2Oct 23, 2020
RORA1Oct 23, 2020
RORA-AS11Oct 23, 2020
RP19Sep 15, 2021
RP1L13Feb 1, 2021
RP25Sep 15, 2021
RPE656Feb 1, 2021
RPGR23Sep 15, 2021
RPL36A-HNRNPH21Oct 23, 2020
RPL52Oct 23, 2020
RS18Sep 15, 2021
RUNX21Oct 23, 2020
RYR14Feb 1, 2021
RYR22Sep 15, 2021
SACS11Sep 22, 2021
SATB25Oct 23, 2020
SBDS3Oct 23, 2020
SCAF42Jun 17, 2021
SCN1A-AS13Jun 17, 2021
SCN2A8Feb 1, 2021
SCN3A1Oct 23, 2020
SCN5A5Jun 17, 2021
SCN8A3Oct 23, 2020
SCN9A3Jun 17, 2021
SCO12Feb 1, 2021
SCO21Oct 23, 2020
SCUBE31Feb 1, 2021
SDHB1Oct 23, 2020
SDHD2Oct 23, 2020
SEC24D2Oct 23, 2020
SELENON1Oct 23, 2020
SEMA6B1Oct 23, 2020
SERAC12Oct 23, 2020
SERPINC11Jun 17, 2021
SET2Oct 23, 2020
SETBP15Sep 15, 2021
SETD1A2Sep 15, 2021
SETD58Oct 23, 2020
SETX2Oct 23, 2020
SF3B41Oct 23, 2020
SFTA32Jun 17, 2021
SGCA1Oct 23, 2020
SGCB2Oct 23, 2020
SGCE4Feb 1, 2021
SGSH1Oct 23, 2020
SH3TC24Oct 23, 2020
SHANK22Jun 17, 2021
SHANK34Sep 15, 2021
SHOC21Oct 23, 2020
SHOX2Jun 17, 2021
SIN3A2Oct 23, 2020
SIX31Oct 23, 2020
SLC12A31Jun 17, 2021
SLC16A21Oct 23, 2020
SLC17A52Feb 1, 2021
SLC19A11Oct 23, 2020
SLC19A33Oct 23, 2020
SLC22A52Oct 23, 2020
SLC24A11Sep 15, 2021
SLC25A12Oct 23, 2020
SLC25A151Feb 1, 2021
SLC26A21Jun 17, 2021
SLC26A32Sep 15, 2021
SLC2A13Sep 15, 2021
SLC37A42Oct 23, 2020
SLC4A11Sep 15, 2021
SLC4A111Sep 15, 2021
SLC6A15Oct 23, 2020
SLC6A1-AS14Oct 23, 2020
SLC6A82Oct 23, 2020
SMAD31Oct 23, 2020
SMAD41Oct 23, 2020
SMARCA21Sep 15, 2021
SMARCB11Jun 17, 2021
SMARCC22Oct 23, 2020
SMC1A3Jun 17, 2021
SMC31Sep 15, 2021
SMG91Oct 23, 2020
SMPD11Oct 23, 2020
SMPX1Oct 23, 2020
SNAP291Oct 23, 2020
SNHG143Oct 23, 2020
SNRNP2001Oct 23, 2020
SOD11Oct 23, 2020
SON4Feb 1, 2021
SORD2Sep 15, 2021
SOS15Oct 23, 2020
SOX101Oct 23, 2020
SOX112Oct 23, 2020
SOX181Jun 17, 2021
SOX24Sep 15, 2021
SOX2-OT4Sep 15, 2021
SOX41Oct 23, 2020
SOX52Oct 23, 2020
SOX93Feb 1, 2021
SPAST44Jun 17, 2021
SPATA52Oct 23, 2020
SPATA5L11Jul 30, 2021
SPATA72Feb 1, 2021
SPG1111Feb 1, 2021
SPG211Sep 22, 2021
SPG79Sep 15, 2021
SPINK51Jun 17, 2021
SPTAN12Sep 15, 2021
SPTBN22Sep 15, 2021
SPTBN41Oct 23, 2020
SPTLC21Oct 23, 2020
SRCAP1Jun 17, 2021
SRP541Oct 23, 2020
SSBP11Oct 23, 2020
STAG11Oct 23, 2020
STAMBP1Oct 23, 2020
STAR2Oct 23, 2020
STAT11Oct 23, 2020
STUB12Feb 1, 2021
STXBP19Sep 15, 2021
STXBP21Oct 23, 2020
SUMF12Oct 23, 2020
SUOX1Oct 23, 2020
SURF14Oct 23, 2020
SYN11Oct 23, 2020
SYNCRIP1Oct 23, 2020
SYNE15Sep 15, 2021
SYNGAP17Sep 15, 2021
SYP1Oct 23, 2020
SZT23Oct 23, 2020
TAB21Oct 23, 2020
TACO11Oct 23, 2020
TAOK11Sep 15, 2021
TARDBP1Oct 23, 2020
TBC1D231Oct 23, 2020
TBCEL-TECTA1Sep 15, 2021
TBCK3Oct 23, 2020
TBL1XR11Jun 17, 2021
TBR11Oct 23, 2020
TBX191Sep 23, 2021
TBX221Oct 23, 2020
TBX31Oct 23, 2020
TBX51Oct 23, 2020
TCEA21Jun 17, 2021
TCF202Jun 17, 2021
TCF47Jun 17, 2021
TECTA1Sep 15, 2021
TERT1Oct 23, 2020
TGFBI1Jun 17, 2021
TGFBR11Oct 23, 2020
THOC61Oct 23, 2020
TIMM8A1Oct 23, 2020
TJP21Oct 23, 2020
TK21Oct 23, 2020
TLK24Oct 23, 2020
TMEM1991Oct 23, 2020
TMEM2401Oct 23, 2020
TMEM2601Oct 23, 2020
TMEM672Oct 23, 2020
TMEM701Oct 23, 2020
TMPRSS31Sep 15, 2021
TMTC31Oct 23, 2020
TNNI32Jun 17, 2021
TNPO31Oct 23, 2020
TOPORS1Oct 23, 2020
TOR1A1Jun 17, 2021
TP534Jun 17, 2021
TPM12Jun 17, 2021
TRAPPC112Oct 23, 2020
TRAPPC21Oct 23, 2020
TRAPPC91Jun 17, 2021
TRIM81Oct 23, 2020
TRIO9Oct 23, 2020
TRIP125Oct 23, 2020
TRPS11Oct 23, 2020
TSC21Oct 23, 2020
TSPAN12Oct 23, 2020
TSR21Feb 1, 2021
TTC191Oct 23, 2020
TTC21B1Feb 1, 2021
TTC81Feb 1, 2021
TTN8Jun 17, 2021
TTN-AS15Jun 17, 2021
TTR2Oct 23, 2020
TUBA1A3Oct 23, 2020
TUBA4A2Feb 1, 2021
TUBB2A2Oct 23, 2020
TUBB33Sep 30, 2021
TUBB4A3Jun 17, 2021
TUBB4B1Sep 15, 2021
TUBGCP61Oct 23, 2020
TULP12Feb 1, 2021
UBAP11Oct 23, 2020
UBE3A3Oct 23, 2020
UCHL12Oct 23, 2020
UMOD2Oct 23, 2020
UPF3B1Sep 15, 2021
UQCRB1Oct 23, 2020
UROD1Oct 23, 2020
USH1C2Oct 23, 2020
USH1G1Oct 23, 2020
USH2A40Sep 22, 2021
USH2A-AS11Oct 23, 2020
USP9X2Oct 23, 2020
VAC141Sep 15, 2021
VCL1Jun 17, 2021
VPS13A3Sep 15, 2021
VPS13B3Sep 15, 2021
VPS163Jun 17, 2021
WAC4Jun 17, 2021
WAS2Feb 1, 2021
WASHC51Oct 23, 2020
WDR264Oct 23, 2020
WDR454Jun 17, 2021
WDR731Oct 23, 2020
WDR811Oct 23, 2020
WFS11Feb 1, 2021
WT12Oct 23, 2020
WWOX1Oct 23, 2020
XPA2Feb 1, 2021
XRCC41Oct 23, 2020
YY12Jun 17, 2021
ZBTB182Oct 23, 2020
ZBTB201Oct 23, 2020
ZEB22Oct 23, 2020
ZFYVE263Oct 23, 2020
ZMIZ13Oct 23, 2020
ZMYND112Oct 23, 2020
ZNF1421Oct 23, 2020
ZNF1481Oct 23, 2020
ZNF2924Sep 15, 2021
ZNF4621Sep 15, 2021

Condition

NameSubmissionsLast Updated
Adams-Oliver syndrome1Sep 22, 2021
Adrenocorticotropic hormone deficiency1Sep 23, 2021
Alport syndrome 1, X-linked recessive1Oct 21, 2021
Autosomal dominant non-syndromic intellectual disability1Sep 22, 2021
Autosomal dominant non-syndromic sensorineural deafness type DFNA1Sep 22, 2021
Autosomal recessive complex spastic paraplegia1Sep 30, 2021
Charlevoix-Saguenay spastic ataxia1Sep 22, 2021
Chromosome 4q21 deletion syndrome1Mar 6, 2020
Deafness, autosomal dominant 641Sep 22, 2021
Dystonia1Jul 30, 2021
Early infantile epileptic encephalopathy 71Sep 22, 2021
Familial cancer of breast1Oct 12, 2021
Global developmental delay2Jul 30, 2021
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome1Oct 13, 2021
Hearing impairment1Jul 30, 2021
Hereditary ataxia1Sep 22, 2021
Hereditary breast and ovarian cancer syndrome1Oct 20, 2021
Hereditary nonpolyposis colorectal cancer type 41Sep 22, 2021
Hereditary spastic paraplegia1Sep 22, 2021
Intellectual disability, autosomal dominant 561Sep 22, 2021
Leukoencephalopathy with ataxia1Sep 22, 2021
Mast syndrome1Sep 22, 2021
Mental retardation, autosomal dominant 141Oct 18, 2021
Microcephaly1Jul 30, 2021
Noonan syndrome 11Oct 4, 2021
Primary autosomal recessive microcephaly 51Sep 22, 2021
Primary peritoneal carcinoma1Sep 22, 2021
Retinitis pigmentosa5Oct 20, 2021
Seizures1Jul 30, 2021
Sotos syndrome 11Sep 22, 2021
Spastic tetraparesis1Jul 30, 2021
Undetermined early-onset epileptic encephalopathy1Sep 22, 2021
Usher syndrome type 21Sep 22, 2021
Visual impairment1Jul 30, 2021
Williams syndrome1Mar 6, 2020
X-linked hydrocephalus syndrome2Sep 30, 2021
not provided2357Sep 15, 2021
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