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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: 2545

Gene

GeneSubmissionsLast Updated
AAAS1Oct 23, 2020
AAGAB1Oct 23, 2020
AARS12Oct 23, 2020
ABCA475Nov 4, 2022
ABCD113Aug 10, 2022
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
ACTG22Aug 29, 2022
ACY11Oct 23, 2020
ADAMTS101Oct 23, 2020
ADAMTSL21Oct 23, 2020
ADAR2Oct 23, 2020
ADCY51Oct 23, 2020
ADGRG11Jun 17, 2021
ADGRV14Oct 23, 2020
ADNP10Feb 2, 2022
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
ANG1Jul 29, 2022
ANK14Jun 17, 2021
ANKRD1118Jun 17, 2021
ANO103Oct 23, 2020
ANO31Oct 23, 2020
ANO59Oct 23, 2020
AP3B21Oct 23, 2020
AP4S12Oct 23, 2020
APC8Oct 20, 2022
APOB1Oct 23, 2020
APTX1Jun 17, 2021
AR2Nov 3, 2022
ARID1A1Oct 18, 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
ATM38Jul 12, 2022
ATN11Sep 30, 2021
ATP1A21Feb 1, 2021
ATP1A34Aug 25, 2022
ATP2A22Oct 23, 2020
ATP7B2Feb 1, 2021
ATP8A21Oct 23, 2020
ATRX3Oct 23, 2020
AVPR21Aug 15, 2022
BAG32Oct 23, 2020
BAP11Oct 23, 2020
BARD15Oct 12, 2021
BBS11Oct 23, 2020
BBS101Feb 1, 2021
BBS22Oct 23, 2020
BBS73Oct 23, 2020
BCAP311Aug 10, 2022
BCL11A7Oct 23, 2020
BCL11B4Sep 15, 2021
BCL2L2-PABPN12Oct 23, 2020
BCOR2Oct 23, 2020
BEST113Sep 15, 2021
BICD21Oct 23, 2020
BICRA1Feb 1, 2021
BLTP13Oct 23, 2020
BMPER1Oct 23, 2020
BRAF2Oct 23, 2020
BRCA150Mar 29, 2022
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
C11orf6516Jul 12, 2022
C12orf41Oct 23, 2020
C19orf121Oct 23, 2020
C1QTNF52Jun 17, 2021
CACNA1A17Oct 27, 2022
CACNA1F4Sep 15, 2021
CACNA1G1Oct 23, 2020
CACNA1S1Jun 17, 2021
CAMK2B1Sep 15, 2021
CAMTA11Nov 14, 2022
CAPN16Oct 23, 2020
CAPN33Oct 23, 2020
CARD142Feb 11, 2022
CASD14Feb 1, 2021
CASK4Dec 2, 2021
CBL1Oct 23, 2020
CBS5Jun 17, 2021
CCDC821Oct 23, 2020
CCN62Oct 23, 2020
CCND21Oct 23, 2020
CCNH2Nov 18, 2022
CD191Oct 23, 2020
CDAN11Oct 23, 2020
CDC421Oct 23, 2020
CDH12Oct 23, 2020
CDH111Oct 23, 2020
CDH235Jul 22, 2022
CDH23-AS11Sep 15, 2021
CDHR15Jun 17, 2021
CDK101Oct 23, 2020
CDK133Feb 1, 2021
CDK5RAP21Oct 23, 2020
CDKL510Mar 15, 2022
CDKN1C1Oct 23, 2020
CDKN2A1Jun 17, 2021
CEP1202Oct 23, 2020
CEP2501Oct 23, 2020
CEP2908Jun 17, 2021
CEP784Jun 17, 2021
CERKL5Nov 21, 2022
CERT11Feb 1, 2021
CFAP4102Oct 23, 2020
CFTR2Oct 23, 2020
CHAMP12Oct 23, 2020
CHAT1Jun 17, 2021
CHCHD102Oct 23, 2020
CHD26Oct 23, 2020
CHD32Jun 17, 2021
CHD78Feb 11, 2022
CHD86Oct 23, 2020
CHEK213May 24, 2022
CHM10Feb 2, 2022
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
CNGA311Oct 28, 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
COL1A13Apr 4, 2022
COL1A22Oct 23, 2020
COL2A14May 20, 2022
COL3A13Oct 29, 2021
COL4A12Oct 23, 2020
COL4A51Oct 21, 2021
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
CREBBP4Apr 20, 2022
CRX3Oct 23, 2020
CSF1R4Oct 25, 2022
CSHL11Nov 14, 2022
CSNK2B2Mar 29, 2022
CSPP11Oct 23, 2020
CTBP11Oct 23, 2020
CTBP1-AS1Oct 23, 2020
CTC12Oct 23, 2020
CTNNB17Nov 18, 2022
CTNS1Jun 17, 2021
CTNS-AS11Jun 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
DDX3X7Jul 11, 2022
DEAF12Jul 11, 2022
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
DSP3Nov 3, 2022
DSPP1Oct 23, 2020
DUOX22Oct 23, 2020
DUSP292Apr 4, 2022
DYNC1H12Nov 18, 2022
DYNC2H12Jun 17, 2021
DYNC2LI11Sep 15, 2021
DYRK1A7Sep 15, 2021
EBF33Feb 1, 2021
ECM12Oct 23, 2020
EEF1A22Oct 23, 2020
EFTUD21Oct 23, 2020
EGILA1Jul 29, 2022
EGR21Oct 23, 2020
EHMT110Apr 21, 2022
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
EYS19Oct 20, 2021
EZH21Oct 23, 2020
FAM111B1Oct 23, 2020
FAM161A6Sep 15, 2021
FANCA2Sep 15, 2021
FARS21Jun 17, 2021
FBN17Oct 23, 2020
FBXO115Oct 23, 2020
FBXW71Sep 12, 2022
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
FLNC5Jun 2, 2022
FLNC-AS14Jun 2, 2022
FLVCR15Oct 23, 2020
FMR11Oct 23, 2020
FOXC11Oct 23, 2020
FOXG16Feb 2, 2022
FOXP18Aug 23, 2022
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
GABRB21Feb 2, 2022
GALC3Jun 17, 2021
GALNS2Sep 15, 2021
GAMT1Jun 17, 2021
GAREM21Jun 17, 2021
GARS11Jun 17, 2021
GATA21Oct 23, 2020
GATAD2B2Oct 23, 2020
GBA11Sep 15, 2021
GBA21Oct 23, 2020
GCH12Oct 23, 2020
GDAP11Jun 17, 2021
GFAP2Oct 23, 2020
GFPT12Jun 17, 2021
GH-LCR1Nov 14, 2022
GH11Nov 14, 2022
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
GPHN1Oct 23, 2020
GPR1431Oct 23, 2020
GPR1792Jun 17, 2021
GREB1L1May 24, 2022
GRIA31Jun 17, 2021
GRIN11Oct 23, 2020
GRIN2A3Feb 22, 2022
GRIN2B2Nov 18, 2022
GRN5Jul 20, 2022
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
HEXA5Nov 17, 2022
HEXB1Jun 17, 2021
HFE2Sep 15, 2021
HFE-AS11Sep 15, 2021
HIBCH1Oct 23, 2020
HIVEP21Oct 23, 2020
HK12Jun 17, 2021
HMGB11Sep 15, 2021
HNF4A2Nov 14, 2022
HNRNPH21Oct 23, 2020
HNRNPK3Oct 23, 2020
HNRNPU2Jun 17, 2021
HNRNPUL2-BSCL21Oct 23, 2020
HOXD131Oct 23, 2020
HPDL3Oct 23, 2020
HPS11Feb 2, 2022
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
IRF2BPL4Aug 22, 2022
ITGA2B2Oct 23, 2020
ITGA31Feb 1, 2021
ITGA41Oct 23, 2020
ITPR12Oct 23, 2020
JAGN11Oct 23, 2020
JARID21Feb 10, 2022
JMJD81Feb 1, 2021
KANSL12Oct 23, 2020
KAT6A4Oct 23, 2020
KAT6B4Apr 4, 2022
KCNA23Oct 23, 2020
KCNB11Oct 23, 2020
KCNC11Oct 23, 2020
KCNC31Sep 15, 2021
KCND35Nov 18, 2022
KCNE11Oct 23, 2020
KCNH23Feb 2, 2022
KCNJ23Oct 23, 2020
KCNK91Oct 23, 2020
KCNQ14Sep 15, 2021
KCNQ24Sep 22, 2021
KCNQ31Oct 23, 2020
KCNQ51Oct 23, 2020
KCNT12Oct 23, 2020
KCNV22Jun 17, 2021
KDM3B1Dec 1, 2021
KDM5C6Sep 15, 2021
KDM6A1Oct 23, 2020
KDM6B4Feb 11, 2022
KIAA05863Oct 23, 2020
KIDINS2201Oct 23, 2020
KIF112Feb 22, 2022
KIF1A10Jun 17, 2021
KIF1C9Jun 17, 2021
KIF21A1Oct 23, 2020
KIF5A10Sep 15, 2021
KLF71Oct 23, 2020
KLHL401Oct 23, 2020
KLHL74Jun 17, 2021
KMT2A8Oct 25, 2021
KMT2B2Sep 15, 2021
KMT2D4Oct 23, 2020
KMT2E3May 3, 2022
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
LAMB12Aug 19, 2022
LAMP24Dec 8, 2021
LARP72Oct 23, 2020
LDLR3Sep 15, 2021
LGI11Apr 4, 2022
LIPT21Oct 23, 2020
LIPT2-AS11Oct 23, 2020
LIX1L-AS11Oct 23, 2020
LMNA3Sep 15, 2021
LOC1005073463Jun 17, 2021
LOC1019271571Oct 23, 2020
LOC1053710461Oct 23, 2020
LOC1060990621Oct 23, 2020
LOC1066279811Sep 15, 2021
LOC1067998341Oct 23, 2020
LOC1071335101Oct 23, 2020
LOC1073723151Oct 23, 2020
LOC1076524451Oct 23, 2020
LOC1080218461Mar 3, 2022
LOC1091159641Feb 1, 2021
LOC1096106311Jun 17, 2021
LOC1100112161Oct 23, 2020
LOC1113652041Oct 23, 2020
LOC1116744721Oct 23, 2020
LOC1139399441Oct 23, 2020
LOC1153081611Oct 23, 2020
LOC1181427574Sep 15, 2021
LOC1221522961Oct 23, 2020
LOC1241531542Feb 1, 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
MAP1B1Apr 22, 2022
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
MECP221Nov 17, 2022
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
MIR67881Aug 5, 2022
MITF3Jun 17, 2021
MKKS1Oct 23, 2020
MLH14Sep 22, 2021
MME1Oct 23, 2020
MMP212Sep 15, 2021
MPDZ1Oct 23, 2020
MPL1Jun 17, 2021
MPZ9May 3, 2022
MRPS221Oct 23, 2020
MSH22Feb 1, 2021
MSH65Sep 15, 2021
MT-ATP66Jun 1, 2022
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
MYO191Oct 23, 2020
MYO62May 2, 2022
MYO7A15Sep 15, 2021
MYORG1Oct 23, 2020
MYOT1Oct 23, 2020
MYRF2Feb 2, 2022
NAA102Oct 23, 2020
NAA152Jun 17, 2021
NACC11Oct 23, 2020
NAGA1Oct 23, 2020
NAGLU2Oct 23, 2020
NALCN3Mar 31, 2022
NBAS3Aug 4, 2022
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
NF126Nov 18, 2022
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
NOTCH12Nov 18, 2022
NOTCH37Sep 15, 2021
NPC13Oct 23, 2020
NPHS11Oct 23, 2020
NPRL31Jun 17, 2021
NPTX11Jun 17, 2021
NR2E35Jun 17, 2021
NR2F11Oct 23, 2020
NRAS1Jan 27, 2022
NSD13Sep 22, 2021
NTRK21Jun 17, 2021
NUS12Oct 23, 2020
NYX2Oct 23, 2020
OCLN2Oct 23, 2020
OCRL2Oct 23, 2020
OFD12Oct 23, 2020
OPA115May 3, 2022
OPHN12Oct 23, 2020
OPTN1Oct 23, 2020
OSBPL21Oct 23, 2020
OSGEP1Oct 23, 2020
OTOG2Jun 17, 2021
P2RX21Oct 23, 2020
PABPN12Oct 23, 2020
PAK11Oct 23, 2020
PALB218Mar 10, 2022
PANK25Oct 23, 2020
PARK71Oct 23, 2020
PAX21Jun 17, 2021
PAX31Sep 15, 2021
PAX63Sep 15, 2021
PAX82Oct 26, 2022
PAX8-AS12Oct 26, 2022
PCARE8Jun 17, 2021
PCCB2Oct 23, 2020
PCDH121Mar 3, 2022
PCDH155Sep 15, 2021
PCDH194Jun 17, 2021
PCDHG@1Jun 30, 2022
PCDHGA11Jun 30, 2022
PCDHGA101Jun 30, 2022
PCDHGA111Jun 30, 2022
PCDHGA121Jun 30, 2022
PCDHGA21Jun 30, 2022
PCDHGA31Jun 30, 2022
PCDHGA41Jun 30, 2022
PCDHGA51Jun 30, 2022
PCDHGA61Jun 30, 2022
PCDHGA71Jun 30, 2022
PCDHGA81Jun 30, 2022
PCDHGA91Jun 30, 2022
PCDHGB11Jun 30, 2022
PCDHGB21Jun 30, 2022
PCDHGB31Jun 30, 2022
PCDHGB41Jun 30, 2022
PCDHGB51Jun 30, 2022
PCDHGB61Jun 30, 2022
PCDHGB71Jun 30, 2022
PCDHGC31Jun 30, 2022
PCDHGC41Jun 30, 2022
PDCD101Feb 2, 2022
PDE4D1Oct 23, 2020
PDE6A11Sep 15, 2021
PDE6B3Jan 12, 2022
PDE6B-AS13Jan 12, 2022
PDE8B2Jun 17, 2021
PDHA17Sep 15, 2021
PDHX1Oct 23, 2020
PDX11Nov 14, 2022
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
PI4KA2Nov 17, 2022
PIEZO25Aug 5, 2022
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
PKD1-AS11Oct 23, 2020
PKD2L2-DT1Oct 23, 2020
PKHD11Oct 23, 2020
PKP25Jun 17, 2021
PLA2G63Oct 23, 2020
PLCE12Nov 16, 2022
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
POLR3B6Mar 3, 2022
POMGNT12Oct 23, 2020
POMT11Sep 15, 2021
PPP1CB2Nov 18, 2022
PPP2R5C1Nov 10, 2021
PPP2R5D4Oct 23, 2020
PPT12Oct 23, 2020
PQBP11Oct 23, 2020
PRCD2Oct 23, 2020
PRDM131Oct 23, 2020
PRDX31Nov 24, 2021
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
PRPF31-AS14Sep 15, 2021
PRPF41Oct 23, 2020
PRPF84Jun 17, 2021
PRPH214Feb 2, 2022
PRR122Nov 18, 2022
PRRT21Sep 15, 2021
PRSS232Oct 23, 2020
PRUNE11Jun 17, 2021
PSEN15Jan 12, 2022
PSEN21Aug 12, 2022
PSMD122Oct 23, 2020
PTCH15Jun 17, 2021
PTCHD11Oct 23, 2020
PTCHD1-AS1Oct 23, 2020
PTEN9Jun 30, 2022
PTPN1113Oct 4, 2021
PTPRA2Jun 17, 2021
PTPRQ2Feb 1, 2021
PTS1Oct 23, 2020
PURA8Oct 13, 2021
PYCR11Jun 17, 2021
PYGM1Jun 17, 2021
PYROXD12Oct 23, 2020
QRICH11Aug 23, 2022
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
RASA12Nov 18, 2022
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
RNASE41Jul 29, 2022
RNASEH2B1Oct 23, 2020
RNF141Mar 3, 2022
RNF1701Jun 17, 2021
RNU4ATAC2Oct 23, 2020
RORA1Oct 23, 2020
RORA-AS11Oct 23, 2020
RP19Sep 15, 2021
RP1L14May 3, 2022
RP25Sep 15, 2021
RPE658Oct 25, 2021
RPGR23Sep 15, 2021
RPL36A-HNRNPH21Oct 23, 2020
RPL52Oct 23, 2020
RS19Mar 15, 2022
RUNX21Oct 23, 2020
RYR14Feb 1, 2021
RYR22Sep 15, 2021
SACS11Sep 22, 2021
SATB25Oct 23, 2020
SBDS3Oct 23, 2020
SCAF42Jun 17, 2021
SCN1A1Aug 15, 2022
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
SDHB2Nov 11, 2022
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
SGSH2Feb 11, 2022
SH3TC24Oct 23, 2020
SHANK22Jun 17, 2021
SHANK34Sep 15, 2021
SHOC21Oct 23, 2020
SHOX2Jun 17, 2021
SIN3A3Feb 2, 2022
SIX11Dec 15, 2021
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
SMAD21Nov 9, 2022
SMAD31Oct 23, 2020
SMAD41Oct 23, 2020
SMARCA22Jun 20, 2022
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
SOX94Mar 3, 2022
SPAST44Jun 17, 2021
SPATA54Nov 18, 2022
SPATA5L11Jul 30, 2021
SPATA73Nov 4, 2022
SPG1111Feb 1, 2021
SPG211Sep 22, 2021
SPG711Aug 4, 2022
SPINK51Jun 17, 2021
SPTAN12Sep 15, 2021
SPTBN12Nov 18, 2022
SPTBN22Sep 15, 2021
SPTBN41Oct 23, 2020
SPTLC21Oct 23, 2020
SRCAP1Jun 17, 2021
SRP541Oct 23, 2020
SRPK21Feb 2, 2022
SSBP11Oct 23, 2020
STAG11Oct 23, 2020
STAMBP1Oct 23, 2020
STAR2Oct 23, 2020
STAT11Oct 23, 2020
STK111Oct 20, 2021
STUB12Feb 1, 2021
STXBP110Nov 24, 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
SYNGAP1-AS16Sep 15, 2021
SYP1Oct 23, 2020
SZT23Oct 23, 2020
TAB22Mar 29, 2022
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
TCF48Feb 9, 2022
TCOF11Nov 11, 2021
TECTA1Sep 15, 2021
TERT1Oct 23, 2020
TGFBI1Jun 17, 2021
TGFBR11Oct 23, 2020
THOC61Oct 23, 2020
THRA1May 3, 2022
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
TNRC6B1Apr 4, 2022
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
TRPS12Apr 4, 2022
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
TUBA1A5Feb 14, 2022
TUBA4A2Feb 1, 2021
TUBB1Aug 16, 2022
TUBB2A2Oct 23, 2020
TUBB33Sep 30, 2021
TUBB4A3Jun 17, 2021
TUBB4B1Sep 15, 2021
TUBGCP61Oct 23, 2020
TULP13Apr 5, 2022
TYMP1Oct 23, 2020
UBAP11Oct 23, 2020
UBE3A3Oct 23, 2020
UBR71Feb 4, 2022
UCHL12Oct 23, 2020
UMOD2Oct 23, 2020
UPF3B1Sep 15, 2021
UQCRB1Oct 23, 2020
UROD1Oct 23, 2020
USH1C2Oct 23, 2020
USH1G1Oct 23, 2020
USH2A41Feb 2, 2022
USH2A-AS11Oct 23, 2020
USP9X2Oct 23, 2020
VAC141Sep 15, 2021
VCL1Jun 17, 2021
VPS13A3Sep 15, 2021
VPS13B3Sep 15, 2021
VPS163Jun 17, 2021
WAC5Nov 18, 2022
WAS3Nov 15, 2022
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
YARS13May 3, 2022
YY12Jun 17, 2021
ZBTB182Oct 23, 2020
ZBTB201Oct 23, 2020
ZC4H21Nov 11, 2022
ZEB22Oct 23, 2020
ZFYVE263Oct 23, 2020
ZMIZ13Oct 23, 2020
ZMYND112Oct 23, 2020
ZNF1421Oct 23, 2020
ZNF1482Aug 23, 2022
ZNF2924Sep 15, 2021
ZNF4621Sep 15, 2021
ZSCAN102Apr 20, 2022

Condition

NameSubmissionsLast Updated
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Feb 2, 2022
Achromatopsia1Oct 28, 2021
Adams-Oliver syndrome1Sep 22, 2021
Adams-Oliver syndrome 51Nov 18, 2022
Adrenoleukodystrophy1Aug 10, 2022
Alexander disease1Dec 1, 2022
Alzheimer disease 41Aug 12, 2022
Amyotrophic lateral sclerosis type 91Jul 29, 2022
Androgen resistance syndrome1Nov 3, 2022
Arthrogryposis, distal, with impaired proprioception and touch1Aug 5, 2022
Ateleiotic dwarfism1Nov 14, 2022
Autosomal dominant non-syndromic intellectual disability3Mar 29, 2022
Autosomal dominant nonsyndromic hearing loss3May 2, 2022
Autosomal dominant nonsyndromic hearing loss 641Sep 22, 2021
Autosomal dominant optic atrophy classic form2May 3, 2022
Autosomal recessive cerebellar ataxia1Nov 24, 2021
Autosomal recessive complex spastic paraplegia1Sep 30, 2021
Bent bone dysplasia1Mar 3, 2022
Brain abnormalities, neurodegeneration, and dysosteosclerosis1Oct 25, 2022
Breast-ovarian cancer, familial, susceptibility to, 11Mar 29, 2022
CHARGE association1Feb 11, 2022
Capillary malformation-arteriovenous malformation 11Nov 18, 2022
Cerebellar ataxia1Feb 2, 2022
Cerebral cavernous malformation 11Feb 2, 2022
Charcot-Marie-Tooth disease type 1B1May 3, 2022
Charlevoix-Saguenay spastic ataxia1Sep 22, 2021
Chromosome 4q21 deletion syndrome1Mar 6, 2020
Cobblestone lissencephaly without muscular or ocular involvement2Aug 19, 2022
Colorectal cancer, hereditary nonpolyposis, type 41Sep 22, 2021
Congenital heart defects, multiple types, 21Mar 29, 2022
Congenital isolated adrenocorticotropic hormone deficiency1Sep 23, 2021
Congenital nongoitrous hypothryoidism 61May 3, 2022
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES1Nov 18, 2022
Danon disease1Dec 8, 2021
DeSanto-Shinawi syndrome due to WAC point mutation1Nov 18, 2022
Developmental and epileptic encephalopathy, 271Nov 18, 2022
Developmental and epileptic encephalopathy, 423Oct 27, 2022
Developmental and epileptic encephalopathy, 71Sep 22, 2021
Diencephalic-mesencephalic junction dysplasia1Mar 3, 2022
Dystonia 121Aug 25, 2022
Dystonic disorder1Jul 30, 2021
Early infantile epileptic encephalopathy with suppression bursts1Nov 24, 2021
Early-onset autosomal dominant Alzheimer disease1Jan 12, 2022
Ehlers-Danlos syndrome, type 41Oct 29, 2021
Epilepsy, familial temporal lobe, 12Apr 4, 2022
Epileptic encephalopathy, infantile or early childhood, 21Feb 2, 2022
Familial adenomatous polyposis 11Oct 20, 2022
Familial cancer of breast3Jul 12, 2022
Foveal hypoplasia 11Dec 1, 2022
Genitopatellar syndrome2Apr 4, 2022
Global developmental delay4Apr 20, 2022
Global developmental delay with speech and behavioral abnormalities2Dec 1, 2022
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies1Aug 23, 2022
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome1Oct 13, 2021
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions2Dec 1, 2022
Hearing impairment1Jul 30, 2021
Hereditary ataxia1Sep 22, 2021
Hereditary breast ovarian cancer syndrome2May 24, 2022
Hereditary spastic paraplegia1Sep 22, 2021
Hereditary spastic paraplegia 72Aug 4, 2022
Hermansky-Pudlak syndrome with pulmonary fibrosis1Feb 2, 2022
Hypothyroidism, congenital, nongoitrous, 21Oct 26, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Mar 31, 2022
Intellectual disability, X-linked 1021Jul 11, 2022
Intellectual disability, autosomal dominant 131Nov 18, 2022
Intellectual disability, autosomal dominant 141Oct 18, 2021
Intellectual disability, autosomal dominant 241Jul 11, 2022
Intellectual disability, autosomal dominant 561Sep 22, 2021
Intellectual disability, autosomal dominant 61Nov 18, 2022
Intellectual disability, autosomal recessive 531Dec 1, 2021
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome2Feb 22, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Aug 23, 2022
Irido-corneo-trabecular dysgenesis1Dec 1, 2022
Juvenile retinoschisis1Mar 15, 2022
Kleefstra syndrome1Apr 21, 2022
Leber congenital amaurosis1Apr 5, 2022
Leber congenital amaurosis 151Apr 5, 2022
Leber congenital amaurosis 31Nov 4, 2022
Leukoencephalopathy with mild cerebellar ataxia and white matter edema1Sep 22, 2021
Leukoencephalopathy, diffuse hereditary, with spheroids 11Oct 25, 2022
Li-Campeau syndrome1Feb 4, 2022
Lissencephaly due to TUBA1A mutation2Feb 14, 2022
Loeys-Dietz syndrome 61Nov 9, 2022
Long QT syndrome 21Feb 2, 2022
Macrocephaly-developmental delay syndrome1Nov 10, 2021
Mast syndrome1Sep 22, 2021
Maternally-inherited spastic paraplegia1Jun 1, 2022
Maturity-onset diabetes of the young type 11Nov 14, 2022
Maturity-onset diabetes of the young type 41Nov 14, 2022
Mayer-Rokitansky-Küster-Hauser syndrome type 21May 24, 2022
Megacystis-microcolon-intestinal hypoperistalsis syndrome 51Aug 29, 2022
Microcephaly1Jul 30, 2021
Microcephaly 5, primary, autosomal recessive1Sep 22, 2021
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2Nov 18, 2022
Mucopolysaccharidosis, MPS-III-A1Feb 11, 2022
Multifocal pattern dystrophy simulating fundus flavimaculatus1Feb 2, 2022
Multiple benign circumferential skin creases on limbs 11Aug 16, 2022
Myofibrillar myopathy 51Jun 2, 2022
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES1Jun 30, 2022
Nephrogenic diabetes insipidus1Aug 15, 2022
Nephrotic syndrome, type 32Nov 16, 2022
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities1Feb 11, 2022
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies2Dec 1, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Aug 22, 2022
Neurofibromatosis, type 12Nov 18, 2022
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 23May 3, 2022
Neuroocular syndrome1Nov 18, 2022
Nicolaides-Baraitser syndrome1Jun 20, 2022
Nonprogressive cerebellar atxia with intellectual disability1Nov 14, 2022
Noonan syndrome 11Oct 4, 2021
Noonan syndrome 61Jan 27, 2022
Noonan syndrome-like disorder with loose anagen hair 21Nov 18, 2022
O'Donnell-Luria-Rodan syndrome1May 3, 2022
Osteogenesis imperfecta type I1Apr 4, 2022
PTEN hamartoma tumor syndrome1Jun 30, 2022
Patterned dystrophy of the retinal pigment epithelium1Oct 25, 2021
Periventricular nodular heterotopia 91Apr 22, 2022
Pervasive developmental disorder2Sep 12, 2022
Pitt-Hopkins syndrome1Feb 9, 2022
Poirier-Bienvenu neurodevelopmental syndrome1Mar 29, 2022
Pol III-related leukodystrophy1Mar 3, 2022
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2Nov 17, 2022
Polyvalvular heart disease syndrome1Mar 29, 2022
Primary dilated cardiomyopathy1Nov 3, 2022
Primary peritoneal carcinoma1Sep 22, 2021
Rare genetic epilepsy1Dec 1, 2021
Rare genetic intellectual disability1Dec 1, 2021
Renal cell carcinoma1Nov 11, 2022
Retinitis pigmentosa10Feb 2, 2022
Retinitis pigmentosa 261Nov 21, 2022
Retinitis pigmentosa 881May 3, 2022
Rett syndrome2Nov 17, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations1Apr 20, 2022
SIN3A-related intellectual disability syndrome due to a point mutation1Feb 2, 2022
Scimitar anomaly2Feb 2, 2022
Seizure1Jul 30, 2021
Sensorineural hearing loss disorder2Apr 20, 2022
Severe early-childhood-onset retinal dystrophy1Nov 4, 2022
Severe intellectual disability-progressive spastic diplegia syndrome1Nov 18, 2022
Severe myoclonic epilepsy in infancy1Aug 15, 2022
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome2Aug 4, 2022
Sotos syndrome 11Sep 22, 2021
Spastic ataxia1Feb 2, 2022
Spastic tetraparesis1Jul 30, 2021
Spinocerebellar ataxia type 19/221Nov 18, 2022
Stargardt disease4Mar 1, 2022
Stickler syndrome type 11May 20, 2022
Syndromic X-linked intellectual disability Najm type1Dec 2, 2021
Tay-Sachs disease1Nov 17, 2022
Thrombocytopenia 11Nov 15, 2022
Treacher Collins syndrome1Nov 11, 2021
Trichorhinophalangeal dysplasia type I1Apr 4, 2022
Trichorhinophalangeal syndrome, type III1Apr 4, 2022
Undetermined early-onset epileptic encephalopathy2Apr 4, 2022
Usher syndrome type 12Jul 22, 2022
Usher syndrome type 1D2Jul 22, 2022
Usher syndrome type 21Sep 22, 2021
Ververi-Brady syndrome1Aug 23, 2022
Visual impairment1Jul 30, 2021
Wieacker-Wolff syndrome, female-restricted1Nov 11, 2022
Wiedemann-Steiner syndrome1Oct 25, 2021
Williams syndrome1Mar 6, 2020
X-linked Alport syndrome1Oct 21, 2021
X-linked hydrocephalus syndrome2Sep 30, 2021
ZSCAN10 Deficiency2Apr 20, 2022
not provided2357Sep 15, 2021
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