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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: 3236

Gene

GeneSubmissionsLast Updated
A2ML1-AS21Dec 12, 2023
AAAS1Oct 23, 2020
AAGAB1Oct 23, 2020
AARS13Jun 2, 2023
ABCA121Jun 26, 2023
ABCA479Apr 21, 2023
ABCC62Dec 7, 2022
ABCC81Dec 7, 2022
ABCD115Feb 9, 2024
ABCD41Dec 4, 2023
ABCG51Sep 15, 2021
ABHD111May 29, 2024
ABHD14A-ACY11Oct 23, 2020
ABHD16A1Sep 30, 2021
ACAD91Oct 23, 2020
ACADM1Jan 30, 2024
ACADVL1Feb 1, 2021
ACAN2Dec 5, 2023
ACO22Feb 1, 2021
ACOX11Oct 23, 2020
ACP61Jun 26, 2024
ACTB5Dec 7, 2022
ACTG11Jul 3, 2024
ACTG22Aug 29, 2022
ACY11Oct 23, 2020
ADAMTS101Oct 23, 2020
ADAMTS132Dec 20, 2022
ADAMTSL21Oct 23, 2020
ADAR3Jun 17, 2024
ADCY52Dec 30, 2022
ADGRG11Jun 17, 2021
ADGRV16Jan 16, 2023
ADNP10Feb 2, 2022
ADSL1Oct 23, 2020
AFG2A6Dec 7, 2022
AFG2B3May 12, 2023
AFG3L22Jun 17, 2021
AGO11Feb 16, 2024
AGTR12Jun 17, 2021
AHCY1Oct 23, 2020
AHDC13Oct 23, 2020
AIFM31Nov 30, 2023
AIPL11Oct 23, 2020
AKT21Feb 23, 2024
ALDH18A11Oct 23, 2020
ALDH1A31Dec 2, 2022
ALDH1A3-AS11Dec 2, 2022
ALDH3A21Oct 23, 2020
ALDH7A12Dec 7, 2022
ALG132Nov 30, 2023
ALG31Dec 15, 2023
ALK1Oct 23, 2020
ALMS16Dec 12, 2023
ALMS1-IT11Dec 12, 2023
ALPL2May 24, 2023
ALS22Jun 17, 2021
AMDHD21May 3, 2024
AMN1Mar 25, 2024
AMPD14Dec 7, 2022
ANG1Jul 29, 2022
ANK15Jun 26, 2023
ANKRD1120Jan 9, 2023
ANO103Oct 23, 2020
ANO31Oct 23, 2020
ANO511Dec 7, 2022
AP3B21Oct 23, 2020
AP4M12Dec 8, 2022
AP4S12Oct 23, 2020
AP5Z12Jun 24, 2024
APC8Oct 20, 2022
APOA51Apr 3, 2024
APOB2Dec 7, 2022
APTX1Jun 17, 2021
AR6Jun 7, 2024
ARFGEF11Dec 19, 2022
ARID1A2Apr 22, 2024
ARID1B18Dec 12, 2023
ARMS21Dec 2, 2022
ARSA4Oct 23, 2020
ARSB1Oct 23, 2020
ARSG1Sep 15, 2021
ARSL1Nov 30, 2023
ARV11Feb 1, 2021
ARVCF1Nov 30, 2023
ARX3Jun 17, 2021
ASPA2Apr 5, 2023
ASPH1Jun 17, 2021
ASPM5Sep 22, 2021
ASS11Oct 23, 2020
ASXL11Oct 23, 2020
ASXL21Oct 23, 2020
ASXL34Feb 1, 2021
ATAD3A1Oct 23, 2020
ATL19Dec 19, 2023
ATM43May 21, 2024
ATN11Sep 30, 2021
ATP1A23Jul 11, 2023
ATP1A35Mar 16, 2023
ATP2A22Oct 23, 2020
ATP2B11Jan 9, 2024
ATP5ME2Jul 1, 2024
ATP6AP11Nov 20, 2023
ATP6V0C1May 3, 2024
ATP7B2Feb 1, 2021
ATP8A21Oct 23, 2020
ATRX3Oct 23, 2020
AUTS21Dec 2, 2022
AVPR21Aug 15, 2022
B3GALNT22Feb 28, 2024
B4GALT31May 5, 2023
BAG32Oct 23, 2020
BAP12Jan 22, 2024
BARD15Oct 12, 2021
BAZ1B1May 29, 2024
BBS11Dec 20, 2022
BBS103Jul 17, 2023
BBS22Oct 23, 2020
BBS51Dec 14, 2023
BBS73Oct 23, 2020
BBS92Dec 20, 2022
BCAP311Aug 10, 2022
BCL11A7Oct 23, 2020
BCL11B5Nov 27, 2023
BCL2L2-PABPN12Oct 23, 2020
BCL7B1May 29, 2024
BCL91Jun 26, 2024
BCOR2Oct 23, 2020
BCORL11Dec 7, 2022
BEST118Jun 3, 2024
BICD21Oct 23, 2020
BICRA1Feb 1, 2021
BLTP13Oct 23, 2020
BMPER1Oct 23, 2020
BORCS61Jan 11, 2024
BPHL1Jul 4, 2024
BRAF2Oct 23, 2020
BRCA158Jun 14, 2024
BRCA259Jun 14, 2024
BRIP18Oct 11, 2023
BRPF14Feb 29, 2024
BRSK21Jun 17, 2021
BRWD32Oct 23, 2020
BSCL21Oct 23, 2020
BTD2Oct 23, 2020
BTK1Oct 23, 2020
BUB1B1Oct 23, 2020
BUD231May 29, 2024
C10orf1051Apr 21, 2023
C11orf6516Jul 12, 2022
C17orf1071Nov 30, 2023
C19orf121Oct 23, 2020
C1QTNF52Jun 17, 2021
C1R1Dec 12, 2023
C1RL1Dec 12, 2023
C22orf391Nov 30, 2023
CACNA1A21Jul 5, 2024
CACNA1C2Mar 8, 2024
CACNA1C-AS31Dec 12, 2023
CACNA1F6Mar 24, 2023
CACNA1G2Dec 21, 2023
CACNA1S1Jun 17, 2021
CAMK2B1Sep 15, 2021
CAMTA11Nov 14, 2022
CAPN16Oct 23, 2020
CAPN33Oct 23, 2020
CARD141Feb 11, 2022
CASD17Aug 10, 2023
CASK4Dec 2, 2021
CBL2Dec 6, 2023
CBS5Jun 17, 2021
CCDC1881Nov 30, 2023
CCDC821Oct 23, 2020
CCDST1Oct 23, 2020
CCN62Oct 23, 2020
CCND21Oct 23, 2020
CCNH2Nov 18, 2022
CD191Oct 23, 2020
CDAN11Oct 23, 2020
CDC421Oct 23, 2020
CDC42BPB1Mar 25, 2024
CDC451Nov 30, 2023
CDH12Oct 23, 2020
CDH111Oct 23, 2020
CDH237Apr 21, 2023
CDH23-AS11Sep 15, 2021
CDHR15Jun 17, 2021
CDK101Oct 23, 2020
CDK133Feb 1, 2021
CDK5RAP21Oct 23, 2020
CDK81Dec 8, 2022
CDKL513Jun 2, 2023
CDKN1C1Oct 23, 2020
CDKN2A1Jun 17, 2021
CEP1202Oct 23, 2020
CEP2501Oct 23, 2020
CEP2909Mar 17, 2023
CEP785Apr 17, 2023
CERKL8Aug 9, 2023
CERS11Nov 30, 2023
CERT11Feb 1, 2021
CFAP4103Jul 4, 2024
CFTR3Dec 8, 2022
CFTR-AS11Dec 8, 2022
CHAMP13Mar 8, 2023
CHAT1Jun 17, 2021
CHCHD102Oct 23, 2020
CHD1L1Jun 26, 2024
CHD26Oct 23, 2020
CHD34Nov 30, 2023
CHD51Nov 30, 2023
CHD714Aug 23, 2023
CHD87Nov 30, 2023
CHEK213May 24, 2022
CHM11Jul 3, 2024
CHRND1Feb 1, 2021
CHRNE1Nov 30, 2023
CHRNG1Sep 15, 2021
CIC5Apr 18, 2024
CLASP13Dec 15, 2022
CLCN15Feb 15, 2024
CLCN21Sep 22, 2021
CLCN51Oct 23, 2020
CLDN31May 29, 2024
CLDN41May 29, 2024
CLDN51Nov 30, 2023
CLIP21May 29, 2024
CLN61Apr 30, 2024
CLP11Oct 23, 2020
CLPB1Oct 23, 2020
CLRN14Jan 30, 2023
CLRN1-AS11Jan 30, 2023
CLTC4Mar 19, 2024
CLTCL11Nov 30, 2023
CNGA12May 11, 2023
CNGA317Apr 11, 2024
CNGB12Feb 1, 2021
CNGB34Jun 17, 2021
CNKSR23Jul 31, 2023
CNTNAP11Feb 1, 2021
CNTNAP21Oct 23, 2020
COCH1Apr 22, 2024
COL11A11Oct 23, 2020
COL11A21Oct 23, 2020
COL12A12Oct 23, 2020
COL18A13Jun 5, 2023
COL1A14Dec 19, 2022
COL1A22Oct 23, 2020
COL2A15Dec 12, 2023
COL3A13Oct 29, 2021
COL4A13Jun 6, 2023
COL4A53Dec 1, 2023
COL5A13Sep 18, 2023
COL6A11Jan 26, 2023
COL6A21Dec 7, 2022
COMP1Oct 23, 2020
COMT1Nov 30, 2023
COQ43Oct 23, 2020
COQ8A3Oct 23, 2020
CP1Oct 23, 2020
CPEB1-AS11Oct 23, 2020
CPLANE11Jul 6, 2023
CPT21Oct 23, 2020
CR21Oct 23, 2020
CRB112Feb 27, 2023
CRBN1Oct 23, 2020
CREBBP4Apr 20, 2022
CRKL1Nov 30, 2023
CRX3Oct 23, 2020
CRYGS1Jul 25, 2023
CSF1R4Nov 14, 2023
CSHL11Nov 14, 2022
CSNK2A11Jul 31, 2023
CSNK2B2Mar 29, 2022
CSPP11Oct 23, 2020
CT661Dec 2, 2022
CTBP11Oct 23, 2020
CTBP1-AS1Oct 23, 2020
CTC12Oct 23, 2020
CTCF1Feb 8, 2024
CTNNB19Jun 26, 2024
CTNS1Jun 17, 2021
CTNS-AS11Jun 17, 2021
CTSF2Oct 23, 2020
CTSK1Feb 1, 2021
CUL34Oct 23, 2020
CUL4B1Oct 23, 2020
CUX21Jul 31, 2023
CWC271Oct 23, 2020
CWF19L12Oct 23, 2020
CXCR41Jun 17, 2021
CYFIP11Nov 30, 2023
CYFIP21Oct 23, 2020
CYGB2Oct 23, 2020
CYP11B21Oct 23, 2020
CYP1B13Feb 1, 2021
CYP27A19Oct 23, 2020
CYP2U12Oct 23, 2020
CYP4V22Mar 7, 2023
CYP7B15Apr 11, 2024
DACT11Jun 17, 2021
DAGLA1Nov 30, 2023
DARS22Dec 7, 2022
DCAF171Sep 15, 2021
DCX1Apr 8, 2024
DDB21Oct 23, 2020
DDHD11Oct 23, 2020
DDX111Feb 15, 2023
DDX3X8Dec 8, 2022
DDX411Jul 14, 2023
DEAF12Jul 11, 2022
DENND5A1Oct 23, 2020
DEPDC51Oct 23, 2020
DES1Oct 23, 2020
DGCR111Nov 30, 2023
DGCR21Nov 30, 2023
DGCR51Nov 30, 2023
DGCR61Nov 30, 2023
DGCR6L1Nov 30, 2023
DGCR81Nov 30, 2023
DHCR73Oct 23, 2020
DHDDS1Feb 1, 2021
DHX91Nov 30, 2023
DIABLO1Sep 22, 2021
DIPK1A3Jan 31, 2024
DIS3L21Jan 18, 2023
DLD1Oct 23, 2020
DLG33Jun 17, 2021
DLG3-AS11Oct 23, 2020
DLG42Feb 1, 2021
DLL11Oct 23, 2020
DMD3Dec 6, 2023
DNAH11Jan 22, 2024
DNAH52Oct 23, 2020
DNAH92Oct 23, 2020
DNAJC191Apr 16, 2024
DNAJC302May 29, 2024
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
DSP4Jan 10, 2023
DSPP2Nov 24, 2023
DST1Jun 6, 2024
DUOX22Oct 23, 2020
DUSP292Apr 4, 2022
DYNC1H12Nov 18, 2022
DYNC2H12Jun 17, 2021
DYNC2LI11Sep 15, 2021
DYRK1A7Sep 15, 2021
EBF34Jun 28, 2024
ECM13Dec 7, 2022
EEF1A23Dec 5, 2022
EEF1AKMT41Dec 15, 2023
EEF1AKMT4-ECE21Dec 15, 2023
EEFSEC2Apr 9, 2024
EFTUD22Jan 29, 2024
EGILA1Jul 29, 2022
EGR21Oct 23, 2020
EHMT110Apr 21, 2022
EIF2B54Jun 17, 2021
EIF3F1Dec 7, 2022
EIF4H1May 29, 2024
EIF5A1Feb 3, 2023
ELANE4Mar 25, 2024
ELN2May 29, 2024
ELN-AS12May 29, 2024
ELOVL41Sep 15, 2021
ELP11Jun 4, 2024
ELP41Dec 1, 2022
EMD1Sep 15, 2021
ENG1Oct 23, 2020
EP3006Jul 17, 2023
EP300-AS11Jan 4, 2023
ERCC22Jun 25, 2024
ERCC44Jan 3, 2023
ERF2Oct 23, 2020
ESCO21Oct 23, 2020
ESS21Nov 30, 2023
EVI2A2May 28, 2024
EXOSC31Oct 23, 2020
EXT11Nov 10, 2023
EXT22Oct 23, 2020
EYA11Feb 10, 2023
EYS23Mar 21, 2024
EZH21Oct 23, 2020
FAM111B1Oct 23, 2020
FAM131B1Dec 7, 2022
FAM161A6Sep 15, 2021
FAM50A1Nov 20, 2023
FANCA4Jun 26, 2023
FANCB1Nov 20, 2023
FARS21Jan 10, 2023
FAS1Dec 8, 2022
FBN110Feb 29, 2024
FBXO116Jun 12, 2023
FBXW71Sep 12, 2022
FDX21Feb 14, 2024
FDX2-ZGLP11Feb 14, 2024
FERRY31Oct 23, 2020
FFAR42Nov 23, 2023
FGD12Feb 1, 2021
FGF121Oct 23, 2020
FGF31Feb 1, 2021
FGFR23Feb 1, 2021
FGFR33Dec 28, 2022
FH2Jan 22, 2024
FHL11Sep 15, 2021
FIG43Oct 23, 2020
FITM21Oct 23, 2020
FKBP141Oct 23, 2020
FKBP14-AS11Oct 23, 2020
FKBP61May 29, 2024
FKRP1Jul 14, 2023
FLCN2Mar 8, 2023
FLG1Oct 23, 2020
FLNA1Oct 23, 2020
FLNC5Jun 2, 2022
FLNC-AS14Jun 2, 2022
FLVCR15Oct 23, 2020
FMO51Jun 26, 2024
FMR11Oct 23, 2020
FOXC11Oct 23, 2020
FOXG16Feb 2, 2022
FOXI31Apr 17, 2024
FOXP18Aug 23, 2022
FOXP25Feb 1, 2021
FOXP31Oct 23, 2020
FOXRED12Oct 23, 2020
FRMD72Oct 23, 2020
FRMPD41Dec 7, 2022
FTH15Jun 3, 2024
FUCA11Oct 23, 2020
FZD42Oct 23, 2020
FZD91May 29, 2024
G6PC12Jun 17, 2021
G6PC33Oct 23, 2020
G6PD3Oct 23, 2020
GAA1Feb 1, 2021
GABBR21Oct 23, 2020
GABRA11Oct 23, 2020
GABRB22Aug 16, 2023
GALC3Jun 17, 2021
GALNS2Sep 15, 2021
GALT1Aug 16, 2023
GAMT1Jun 17, 2021
GAREM21Jun 17, 2021
GARS11Jun 17, 2021
GATA21Oct 23, 2020
GATA31Mar 19, 2024
GATAD2B3Dec 11, 2023
GBA11Sep 15, 2021
GBA21Oct 23, 2020
GBE12Feb 8, 2024
GCH12Oct 23, 2020
GDAP11Jun 17, 2021
GDF11Nov 30, 2023
GDI11Nov 20, 2023
GFAP3Dec 1, 2022
GFPT12Jun 17, 2021
GH-LCR2Jan 29, 2024
GH11Nov 14, 2022
GJA11Oct 23, 2020
GJA51Jun 26, 2024
GJA81Jun 26, 2024
GJB13Dec 13, 2022
GJB28Sep 15, 2021
GJC21Jan 11, 2024
GLA1Feb 13, 2023
GLB13Oct 23, 2020
GLI11Feb 10, 2023
GLI34May 23, 2024
GLMN1Oct 23, 2020
GLRA12Oct 23, 2020
GML1Oct 23, 2020
GMPPB1Oct 23, 2020
GNAI12Apr 17, 2023
GNAI31Apr 24, 2024
GNAO14Jun 12, 2024
GNAT22Apr 24, 2024
GNB13Oct 12, 2023
GNB1L1Nov 30, 2023
GNE2Oct 23, 2020
GP1BB1Nov 30, 2023
GP91Sep 15, 2021
GPC31Jun 17, 2021
GPHN4Aug 23, 2023
GPR1431Oct 23, 2020
GPR1792Jun 17, 2021
GPR89B1Jun 26, 2024
GREB1L4Oct 24, 2023
GRIA11May 11, 2023
GRIA31Jun 17, 2021
GRID21Feb 16, 2024
GRIN11Oct 23, 2020
GRIN2A4Dec 12, 2023
GRIN2B3Dec 8, 2022
GRM71Dec 7, 2022
GRN6Dec 1, 2022
GSC21Nov 30, 2023
GSDME1Sep 15, 2021
GUCA1A5Aug 31, 2023
GUCA1ANB-GUCA1A5Aug 31, 2023
GUCA1B1Aug 31, 2023
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
HINT11Nov 14, 2023
HIRA1Nov 30, 2023
HIVEP21Oct 23, 2020
HK13Dec 20, 2022
HMGB11Sep 15, 2021
HNF1B1Nov 30, 2023
HNF4A2Nov 14, 2022
HNMT1Jun 10, 2024
HNRNPH22Feb 13, 2023
HNRNPK3Oct 23, 2020
HNRNPK-AS12Oct 23, 2020
HNRNPU2Jun 17, 2021
HNRNPUL2-BSCL21Oct 23, 2020
HOXD131Oct 23, 2020
HPDL3Oct 23, 2020
HPS13Feb 20, 2024
HPS31Oct 23, 2020
HPS41Oct 23, 2020
HSD17B31Oct 23, 2020
HSD3B71Jul 31, 2023
HSPB13Oct 23, 2020
HSPD11Oct 23, 2020
HTRA12Dec 2, 2022
HUWE11Dec 5, 2023
IFIH13Oct 4, 2023
IFITM51Feb 21, 2023
IFT1404Oct 23, 2020
IGF1R1Jun 3, 2024
IGF21Sep 15, 2021
IKZF11Oct 23, 2020
IL17RC1Sep 15, 2021
IL1RAPL12Nov 24, 2023
IMPDH11Oct 23, 2020
IMPG11Sep 15, 2021
IMPG22Sep 15, 2021
INCA15Jun 17, 2021
INS-IGF21Sep 15, 2021
IQCB13Jun 17, 2021
IQSEC23Sep 22, 2021
IRAK1BP11Dec 7, 2022
IRF2BPL4Aug 22, 2022
ITGA2B2Oct 23, 2020
ITGA31Feb 1, 2021
ITGA41Oct 23, 2020
ITPR12Oct 23, 2020
JAG12Jul 1, 2024
JAGN11Oct 23, 2020
JARID21Feb 10, 2022
JMJD83Mar 21, 2024
KANSL12Oct 23, 2020
KAT6A4Oct 23, 2020
KAT6B5Mar 1, 2024
KCNA23Oct 23, 2020
KCNB11Oct 23, 2020
KCNC11Oct 23, 2020
KCNC21Jun 28, 2024
KCNC31Sep 15, 2021
KCND36Dec 12, 2023
KCNE11Oct 23, 2020
KCNH25Aug 21, 2023
KCNJ23Oct 23, 2020
KCNK91Oct 23, 2020
KCNMA11Dec 19, 2023
KCNMA1-AS11Dec 19, 2023
KCNQ16Oct 2, 2023
KCNQ25Jan 12, 2024
KCNQ31Oct 23, 2020
KCNQ51Oct 23, 2020
KCNT12Oct 23, 2020
KCNV22Jun 17, 2021
KDM3B1Dec 1, 2021
KDM4B1Dec 12, 2023
KDM5C6Sep 15, 2021
KDM6A1Oct 23, 2020
KDM6B4Feb 11, 2022
KIAA05863Oct 23, 2020
KIDINS2201Oct 23, 2020
KIF113Jun 11, 2024
KIF1A11Jul 8, 2024
KIF1C9Jun 17, 2021
KIF21A1Oct 23, 2020
KIF5A11May 14, 2024
KIT1Mar 8, 2023
KLF71Oct 23, 2020
KLHL221Nov 30, 2023
KLHL401Oct 23, 2020
KLHL74Jun 17, 2021
KLLN1May 15, 2024
KMT2A10Jun 28, 2024
KMT2B3Jul 31, 2023
KMT2D6Nov 30, 2023
KMT2E3May 3, 2022
KMT5B5Jan 29, 2024
KPNA31Feb 14, 2024
KPTN2Oct 23, 2020
KRAS1Oct 23, 2020
KREMEN12Nov 30, 2023
KRIT11Feb 1, 2021
KRT161Oct 23, 2020
KRT51Oct 23, 2020
KRT6A1Oct 23, 2020
LAMA12Oct 23, 2020
LAMA22Dec 22, 2023
LAMB14Jun 26, 2023
LAMP24Dec 8, 2021
LARP72Oct 23, 2020
LAT21May 29, 2024
LDLR4Nov 30, 2023
LGI11Apr 4, 2022
LIMK11May 29, 2024
LINC006241Jun 26, 2024
LINC010541Mar 8, 2023
LINC011381Jun 26, 2024
LINC022451Aug 11, 2023
LINC025661Dec 12, 2023
LINC028051Jun 26, 2024
LINC028061Jun 26, 2024
LIPT21Oct 23, 2020
LIPT2-AS11Oct 23, 2020
LIX1L-AS11Oct 23, 2020
LMNA3Sep 15, 2021
LOC1005060711Apr 22, 2024
LOC1005073463Jun 17, 2021
LOC1014482021Feb 10, 2023
LOC1019271572May 11, 2023
LOC1019275211Dec 22, 2022
LOC1053698891Oct 23, 2020
LOC1053710461Oct 23, 2020
LOC1060990621Oct 23, 2020
LOC1066279811Sep 15, 2021
LOC1066943161Nov 2, 2023
LOC1067998341Oct 23, 2020
LOC1071335101Oct 23, 2020
LOC1073723151Oct 23, 2020
LOC1076524451Oct 23, 2020
LOC1080218461Mar 3, 2022
LOC1082811773Jun 17, 2021
LOC1088636201Oct 23, 2020
LOC1091159641Feb 1, 2021
LOC1096106311Jun 17, 2021
LOC1100112161Oct 23, 2020
LOC1113652041Oct 23, 2020
LOC1116744721Oct 23, 2020
LOC1124862231Jun 26, 2023
LOC1125298951Feb 1, 2021
LOC1139399441Oct 23, 2020
LOC1153081611Oct 23, 2020
LOC1215875743Feb 11, 2022
LOC1221522963Feb 3, 2023
LOC1241531542Feb 1, 2021
LOC1251774891Oct 23, 2020
LOC1251775231Apr 18, 2023
LOC1268056611Oct 23, 2020
LOC1268057937Apr 21, 2023
LOC1268057941Oct 23, 2020
LOC1268058511Oct 23, 2020
LOC1268062531Oct 23, 2020
LOC1268064261Oct 23, 2020
LOC1268064621Oct 23, 2020
LOC1268065291Sep 15, 2021
LOC1268066582Oct 23, 2020
LOC1268598071May 30, 2023
LOC1268598271Oct 23, 2020
LOC1268609711Oct 23, 2020
LOC1268609751Oct 23, 2020
LOC1268618961Jun 17, 2021
LOC1268618972Jun 28, 2024
LOC1268618983Sep 15, 2021
LOC1268622645Dec 8, 2022
LOC1268624721Oct 23, 2020
LOC1268625001Oct 23, 2020
LOC12686257114Apr 10, 2024
LOC1268626111Oct 23, 2020
LOC1268627571Jan 2, 2023
LOC1278142971May 24, 2024
LOC1287722541Feb 1, 2021
LOC1299351821Jun 13, 2024
LOC1299352141Mar 13, 2023
LOC1299931102Sep 15, 2021
LOC1299945691Oct 23, 2020
LOC1299975231Oct 23, 2020
LOC1299986031Feb 1, 2021
LOC1300005071Oct 23, 2020
LOC1300030921Nov 2, 2023
LOC1300031481Oct 23, 2020
LOC1300094161Dec 8, 2022
LOC1300095851Dec 12, 2023
LOC1300562261Feb 1, 2021
LOC1300565531Mar 25, 2024
LOC1300569732Oct 23, 2020
LOC1300585431Jan 3, 2023
LOC1300598371Sep 15, 2021
LOC1300598471Sep 30, 2021
LOC1300609941Oct 23, 2020
LOC1300634861Feb 14, 2024
LOC1300653452Oct 23, 2020
LOC1300668231Oct 23, 2020
LOC1300670161May 14, 2024
LOC1300682021Sep 15, 2021
LOXHD11Oct 23, 2020
LRAT1Mar 24, 2023
LRP52Jul 9, 2024
LRRC74B1Nov 30, 2023
LRRK21Oct 23, 2020
LRSAM11Oct 23, 2020
LZTR19Jun 26, 2024
MAF1Feb 1, 2021
MAGEL22Oct 23, 2020
MAK3Jan 12, 2023
MAN2B13Oct 23, 2020
MAOA1Apr 4, 2024
MAP1B1Apr 22, 2022
MAP2K12Jun 17, 2021
MAP2K21Oct 23, 2020
MAP4K21Feb 9, 2024
MAPK8IP31Jun 17, 2021
MAPT3Dec 12, 2023
MARVELD21Feb 1, 2021
MASP11Jun 17, 2021
MAST31Feb 16, 2024
MBD52Oct 23, 2020
MC2R2Jun 17, 2021
MC4R2Sep 15, 2021
MEA14Oct 23, 2020
MECP223Nov 30, 2023
MED121Oct 23, 2020
MED13L5Sep 15, 2021
MED151Nov 30, 2023
MEFV7Dec 8, 2022
MEIS21Oct 23, 2020
MEN11Feb 9, 2024
MERTK9Sep 15, 2021
METTL232Jun 17, 2021
METTL271May 29, 2024
METTL51Oct 23, 2020
MFN22Oct 23, 2020
MFRP2Jun 17, 2021
MHRT3Jun 28, 2024
MINK11Nov 30, 2023
MIR103A21Nov 14, 2023
MIR103B21Nov 14, 2023
MIR12241Dec 15, 2023
MIR13061Nov 30, 2023
MIR1971Apr 24, 2024
MIR208B2Jun 28, 2024
MIR302CHG2Oct 23, 2020
MIR36181Nov 30, 2023
MIR3936HG1Oct 23, 2020
MIR42841May 29, 2024
MIR45211Jan 11, 2024
MIR46562Jun 24, 2024
MIR46851Feb 20, 2024
MIR47611Nov 30, 2023
MIR47671Feb 22, 2024
MIR50041Oct 23, 2020
MIR50871Jun 26, 2024
MIR5901May 29, 2024
MIR60771Jun 26, 2024
MIR60841Mar 15, 2024
MIR6511B11Aug 22, 2023
MIR67881Aug 5, 2022
MIR68161Nov 30, 2023
MIR68571Oct 23, 2020
MIR68701May 23, 2024
MITF3Jun 17, 2021
MKKS1Oct 23, 2020
MLC11Dec 12, 2023
MLH15Aug 18, 2023
MLXIPL1May 29, 2024
MME2Jan 25, 2024
MMP212Sep 15, 2021
MORC23Jul 21, 2023
MPDZ1Oct 23, 2020
MPL1Jun 17, 2021
MPO2Nov 2, 2023
MPV173Dec 29, 2023
MPZ10Nov 30, 2023
MRPL401Nov 30, 2023
MRPS222Jan 10, 2024
MSH22Feb 1, 2021
MSH611Mar 18, 2024
MT-ATP66Nov 30, 2023
MT-ATP81Nov 30, 2023
MT-CO12Nov 30, 2023
MT-CO21Nov 30, 2023
MT-CO31Nov 30, 2023
MT-ND12Nov 30, 2023
MT-ND21Nov 30, 2023
MT-ND31Nov 30, 2023
MT-ND42Nov 30, 2023
MT-ND4L1Nov 30, 2023
MT-ND52Nov 30, 2023
MT-TA1Nov 30, 2023
MT-TC1Nov 30, 2023
MT-TD1Nov 30, 2023
MT-TG1Nov 30, 2023
MT-TH1Nov 30, 2023
MT-TI1Nov 30, 2023
MT-TK1Nov 30, 2023
MT-TL11Oct 23, 2020
MT-TM1Nov 30, 2023
MT-TN1Nov 30, 2023
MT-TQ1Nov 30, 2023
MT-TR1Nov 30, 2023
MT-TS13Nov 30, 2023
MT-TS21Nov 30, 2023
MT-TW2Nov 30, 2023
MT-TY1Nov 30, 2023
MTHFR2Jun 17, 2021
MTM12Jun 17, 2021
MUTYH7Jun 17, 2021
MVK2Oct 23, 2020
MVP-DT1Sep 15, 2021
MYBPC312Jan 24, 2024
MYH21Oct 23, 2020
MYH31Oct 23, 2020
MYH61Jun 17, 2021
MYH713Jun 28, 2024
MYH92Sep 15, 2021
MYHAS1Oct 23, 2020
MYO191Oct 23, 2020
MYO62May 2, 2022
MYO7A21May 10, 2024
MYORG1Oct 23, 2020
MYOT1Oct 23, 2020
MYRF2Feb 2, 2022
MYRF-AS11Nov 30, 2023
MYT1L2Jun 12, 2024
NAA102Oct 23, 2020
NAA153Jun 2, 2023
NACC11Oct 23, 2020
NAGA1Oct 23, 2020
NAGLU2Oct 23, 2020
NALCN4Jun 3, 2024
NBAS3Aug 4, 2022
NBEA5Dec 7, 2022
NBPF111Jun 26, 2024
NBPF121Jun 26, 2024
NBPF141Jun 26, 2024
NCAPH21Oct 23, 2020
NDP1Oct 23, 2020
NDP-AS11Oct 23, 2020
NDRG11Sep 5, 2023
NDUFAF61Dec 12, 2023
NEB2Jun 17, 2021
NEFL2Sep 15, 2021
NEK11Dec 8, 2022
NEK92Oct 23, 2020
NEU11Dec 8, 2022
NEXMIF4Dec 7, 2022
NF168Jun 12, 2024
NF22Jan 25, 2023
NFIA1Jun 17, 2021
NFIB1Jun 17, 2021
NFIX1Oct 23, 2020
NGLY12Oct 23, 2020
NHLRC11Jun 17, 2021
NIPA12Nov 30, 2023
NIPA21Nov 30, 2023
NIPBL2Feb 1, 2021
NKX2-13Dec 5, 2022
NLRP121Dec 7, 2022
NLRP32Dec 7, 2022
NOG1Nov 6, 2023
NOTCH12Nov 18, 2022
NOTCH38Jan 31, 2023
NPC13Oct 23, 2020
NPHS11Oct 23, 2020
NPRL31Jun 17, 2021
NPTX11Jun 17, 2021
NR2E36Jun 18, 2024
NR2F12Jun 5, 2024
NR5A11Feb 22, 2023
NRAS1Jan 27, 2022
NSD13Sep 22, 2021
NSD21Jun 26, 2023
NSUN51May 29, 2024
NTRK21Jun 17, 2021
NUDT21May 11, 2023
NUS14Aug 25, 2023
NYX2Oct 23, 2020
OAT1Aug 29, 2023
OCLN2Oct 23, 2020
OCRL3Apr 5, 2024
OFD12Oct 23, 2020
OPA121Apr 30, 2024
OPA1-AS12Nov 9, 2023
OPA31Feb 7, 2023
OPHN12Oct 23, 2020
OPTN2Dec 28, 2023
OSBPL21Oct 23, 2020
OSBPL81Jul 17, 2023
OSGEP1Oct 23, 2020
OTOG2Jun 17, 2021
OTOP21Mar 6, 2024
OTX21Mar 17, 2023
P2RX21Oct 23, 2020
P2RX61Nov 30, 2023
PABPN12Oct 23, 2020
PACS21Mar 26, 2024
PADI31Feb 13, 2024
PAFAH1B31Dec 12, 2023
PAK11Oct 23, 2020
PALB221Mar 25, 2024
PANK26Nov 14, 2023
PARK71Oct 23, 2020
PAX21Jun 17, 2021
PAX31Sep 15, 2021
PAX64Dec 1, 2022
PAX82Oct 26, 2022
PAX8-AS12Oct 26, 2022
PCARE8Jun 17, 2021
PCCB2Oct 23, 2020
PCDH121Mar 3, 2022
PCDH156Oct 10, 2023
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
PDCD102Oct 24, 2023
PDE4D1Oct 23, 2020
PDE6A12Jun 5, 2024
PDE6B5Jul 1, 2024
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
PGGHG1Feb 21, 2023
PHEX1Oct 23, 2020
PHF33Oct 23, 2020
PHF81Oct 23, 2020
PHIP5Dec 7, 2022
PHKA11Oct 23, 2020
PHKA22Oct 25, 2023
PHOX2B3Oct 23, 2020
PHOX2B-AS11Oct 23, 2020
PHYH1Jun 17, 2021
PI4KA3Nov 30, 2023
PIEZO25Aug 5, 2022
PIGA1Jan 11, 2023
PIGG4Oct 23, 2020
PIGN3Dec 7, 2022
PIGP1Jun 17, 2021
PIGV1Oct 23, 2020
PIGW1Oct 23, 2020
PIK3CA3Dec 7, 2022
PIK3CD1Oct 23, 2020
PIK3R21Jun 26, 2023
PINK12Mar 15, 2024
PINK1-AS2Mar 15, 2024
PJVK1Oct 23, 2020
PKD16Apr 23, 2024
PKD1-AS11Oct 23, 2020
PKD22Jan 18, 2024
PKD2L2-DT1Oct 23, 2020
PKHD11Oct 23, 2020
PKP25Jun 17, 2021
PLA2G63Oct 23, 2020
PLCE12Nov 16, 2022
PLG1Dec 15, 2022
PLP11Jan 17, 2023
PLPBP2Mar 22, 2023
PLXNB3-AS11Mar 22, 2023
PMM25Sep 15, 2021
PMP222Oct 23, 2020
PMS24Sep 22, 2021
PNKP3Oct 23, 2020
PNPLA41Feb 22, 2024
PNPLA67Nov 30, 2023
POC1B1Oct 23, 2020
POGZ6Sep 15, 2021
POLG10Jun 17, 2021
POLGARF10Jun 17, 2021
POLR1C1Apr 24, 2024
POLR2F1Oct 23, 2020
POLR3A11Oct 23, 2020
POLR3B6Mar 3, 2022
POMGNT12Oct 23, 2020
POMT12Dec 12, 2023
POU4F31May 24, 2024
PPIAL4G1Jun 26, 2024
PPM1D1Jul 1, 2024
PPOX1May 5, 2023
PPP1CB2Nov 18, 2022
PPP2R5C1Nov 10, 2021
PPP2R5D4Oct 23, 2020
PPT12Oct 23, 2020
PQBP11Oct 23, 2020
PRCD2Oct 23, 2020
PRDM131Oct 23, 2020
PRDM151Jun 27, 2024
PRDX31Nov 24, 2021
PREPL1Oct 23, 2020
PRKAB21Jun 26, 2024
PRKAR1A1Sep 15, 2021
PRKAR1B2Dec 7, 2022
PRKCG5Dec 16, 2022
PRKN1Oct 23, 2020
PRMT71Oct 23, 2020
PRNP1Oct 23, 2020
PRODH1Nov 30, 2023
PROM12Jun 17, 2021
PRPF3111Feb 6, 2024
PRPF31-AS17Feb 6, 2024
PRPF41Oct 23, 2020
PRPF85Oct 17, 2023
PRPH219Feb 27, 2024
PRPS11Apr 27, 2023
PRR122Nov 18, 2022
PRRT21Sep 15, 2021
PRSS232Oct 23, 2020
PRUNE11Jun 17, 2021
PSEN16Nov 14, 2023
PSEN21Aug 12, 2022
PSMD123Jul 5, 2024
PTCH16Sep 8, 2023
PTCHD11Oct 23, 2020
PTCHD1-AS1Oct 23, 2020
PTEN14Jul 5, 2024
PTPN1116Feb 21, 2024
PTPRA2Jun 17, 2021
PTPRQ2Feb 1, 2021
PTRH21Mar 19, 2024
PTS1Oct 23, 2020
PUDP1Feb 22, 2024
PURA9Aug 7, 2023
PUS71Dec 8, 2022
PYCR11Jun 17, 2021
PYGM1Jun 17, 2021
PYROXD12Oct 23, 2020
QRICH11Aug 23, 2022
RAB33B2Sep 15, 2021
RAB3GAP11Oct 23, 2020
RAB9B1Jan 17, 2023
RAC11Mar 9, 2023
RAD51C6Sep 15, 2021
RAD51D4Oct 23, 2020
RAD51L3-RFFL4Oct 23, 2020
RAF12Nov 30, 2023
RAI18Dec 8, 2022
RANBP11Nov 30, 2023
RANBP21Feb 1, 2021
RASA12Nov 18, 2022
RB14Jun 20, 2024
RBM201Oct 23, 2020
RBM8A1Oct 23, 2020
RBP42Nov 23, 2023
RDH111Apr 4, 2023
RDH123Aug 23, 2023
REEP15Jun 17, 2021
REEP61Sep 15, 2021
RETREG11Sep 22, 2021
RETREG1-AS11Sep 22, 2021
RFC21May 29, 2024
RHBDL12Mar 21, 2024
RHO11Feb 26, 2024
RHOBTB23Oct 23, 2020
RILP1Oct 17, 2023
RIT14Apr 8, 2024
RLBP11Oct 23, 2020
RNASE41Jul 29, 2022
RNASEH2B1Oct 23, 2020
RNF141Mar 3, 2022
RNF1701Jun 17, 2021
RNU4ATAC3Dec 15, 2022
RNVU1-11Jun 26, 2024
RNVU1-271Jun 26, 2024
RNVU1-31Jun 26, 2024
RNVU1-71Jun 26, 2024
RNVU1-81Jun 26, 2024
RORA2May 15, 2024
RORA-AS12May 15, 2024
RP112Jul 1, 2024
RP1L14May 3, 2022
RP25Sep 15, 2021
RPE6512May 23, 2024
RPGR33Jul 2, 2024
RPL111Dec 7, 2022
RPL36A-HNRNPH22Feb 13, 2023
RPL53Jan 31, 2024
RPS241Jun 9, 2023
RS111Jun 2, 2023
RSPO41Nov 30, 2023
RTL101Nov 30, 2023
RTN4R1Nov 30, 2023
RUNX21Oct 23, 2020
RYR15Aug 8, 2023
RYR22Sep 15, 2021
SACS13Jul 17, 2023
SATB26May 25, 2023
SBDS3Oct 23, 2020
SCAF45Jun 6, 2024
SCAMP51Nov 30, 2023
SCARF21Nov 30, 2023
SCARNA211Nov 30, 2023
SCN11A1Dec 8, 2022
SCN1A2Dec 13, 2022
SCN1A-AS15Jan 5, 2023
SCN2A8Feb 1, 2021
SCN3A2Mar 22, 2024
SCN4A2Jan 29, 2024
SCN5A6Jul 2, 2024
SCN8A6Jun 21, 2024
SCN9A4Jan 5, 2023
SCO12Feb 1, 2021
SCO21Oct 23, 2020
SCUBE31Feb 1, 2021
SDHB2Nov 11, 2022
SDHC1Nov 30, 2023
SDHD2Oct 23, 2020
SEC24D2Oct 23, 2020
SELENON1Oct 23, 2020
SEMA6B1Oct 23, 2020
SEPTIN51Nov 30, 2023
SERAC12Oct 23, 2020
SERPINC11Jun 17, 2021
SERPIND11Nov 30, 2023
SET2Oct 23, 2020
SETBP15Sep 15, 2021
SETD1A3Feb 21, 2023
SETD59Feb 27, 2024
SETX3Apr 27, 2023
SF3B41Oct 23, 2020
SFTA33Dec 5, 2022
SGCA1Oct 23, 2020
SGCB2Oct 23, 2020
SGCE7Aug 10, 2023
SGSH3Feb 9, 2024
SH3TC25Feb 7, 2023
SHANK22Jun 17, 2021
SHANK36Dec 19, 2023
SHOC21Oct 23, 2020
SHOX2Jun 17, 2021
SIN3A3Feb 2, 2022
SIX11Dec 15, 2021
SIX31Oct 23, 2020
SLC12A11Jul 12, 2023
SLC12A32Dec 20, 2022
SLC13A31Nov 30, 2023
SLC16A21Oct 23, 2020
SLC17A52Feb 1, 2021
SLC19A12Jun 5, 2023
SLC19A33Oct 23, 2020
SLC1A41Aug 11, 2023
SLC20A23Mar 13, 2024
SLC22A52Oct 23, 2020
SLC24A11Sep 15, 2021
SLC24A51Mar 8, 2024
SLC25A13Nov 30, 2023
SLC25A151Feb 1, 2021
SLC25A41Jul 31, 2023
SLC26A111Feb 9, 2024
SLC26A22Nov 23, 2023
SLC26A32Sep 15, 2021
SLC26A41Dec 19, 2022
SLC2A16Mar 19, 2024
SLC2A1-DT2Nov 30, 2023
SLC35A21Aug 16, 2023
SLC35D2-HSD17B31Oct 23, 2020
SLC37A42Oct 23, 2020
SLC4A11Sep 15, 2021
SLC4A111Sep 15, 2021
SLC6A16Dec 12, 2023
SLC6A1-AS14Oct 23, 2020
SLC6A82Oct 23, 2020
SLC7A41Nov 30, 2023
SLC9A61Dec 13, 2022
SMAD21Nov 9, 2022
SMAD31Oct 23, 2020
SMAD41Oct 23, 2020
SMARCA12Jul 5, 2024
SMARCA22Jun 20, 2022
SMARCB11Dec 7, 2022
SMARCC22Oct 23, 2020
SMC1A3Jun 17, 2021
SMC31Jul 21, 2023
SMG91Oct 23, 2020
SMPD11Oct 23, 2020
SMPX1Oct 23, 2020
SNAP292Nov 30, 2023
SNHG144May 3, 2023
SNORA77B1Nov 30, 2023
SNORD1182Jan 11, 2024
SNORD81Nov 30, 2023
SNORD91Nov 30, 2023
SNRNP2002Feb 14, 2023
SOD12Dec 7, 2022
SON4Feb 1, 2021
SORD2Sep 15, 2021
SOS16Jul 9, 2024
SOX101Oct 23, 2020
SOX112Oct 23, 2020
SOX181Jun 17, 2021
SOX24Sep 15, 2021
SOX2-OT4Sep 15, 2021
SOX41Oct 23, 2020
SOX53Jun 2, 2023
SOX94Mar 3, 2022
SPAST47May 29, 2024
SPATA222Apr 5, 2023
SPATA73Nov 4, 2022
SPEN3Dec 12, 2023
SPG1111Feb 1, 2021
SPG211Sep 22, 2021
SPG713Jul 11, 2023
SPINK51Jun 17, 2021
SPTAN13Nov 7, 2023
SPTBN12Nov 18, 2022
SPTBN22Sep 15, 2021
SPTBN41Oct 23, 2020
SPTLC21Oct 23, 2020
SRCAP1Dec 7, 2022
SRP541Oct 23, 2020
SRPK21Feb 2, 2022
SSBP11Oct 23, 2020
STAG12Nov 30, 2023
STAMBP1Oct 23, 2020
STAR2Oct 23, 2020
STAT11Oct 23, 2020
STK111Oct 20, 2021
STS1Feb 22, 2024
STUB14Mar 21, 2024
STX1A1May 29, 2024
STX1B1Jul 31, 2023
STXBP112Apr 19, 2024
STXBP21Oct 23, 2020
SUCLG11Dec 7, 2022
SUMF12Oct 23, 2020
SUOX1Oct 23, 2020
SURF14Oct 23, 2020
SUZ121May 17, 2024
SYN11Oct 23, 2020
SYNCRIP1Oct 23, 2020
SYNE17Apr 6, 2023
SYNGAP17Sep 15, 2021
SYNGAP1-AS16Sep 15, 2021
SYP1Oct 23, 2020
SZT23Oct 23, 2020
TAB22Mar 29, 2022
TACO11Oct 23, 2020
TANGO21Nov 30, 2023
TAOK13Apr 5, 2024
TARDBP2Mar 22, 2024
TBC1D231Oct 23, 2020
TBCEL-TECTA1Sep 15, 2021
TBCK3Oct 23, 2020
TBK15Feb 15, 2024
TBL1XR11Dec 7, 2022
TBL21May 29, 2024
TBR12Jun 26, 2024
TBX11Nov 30, 2023
TBX191Sep 23, 2021
TBX221Oct 23, 2020
TBX31Oct 23, 2020
TBX51Oct 23, 2020
TCEA21Jun 17, 2021
TCF203Nov 15, 2023
TCF410Dec 12, 2023
TCOF11Nov 11, 2021
TEAD31Feb 1, 2023
TECTA1Sep 15, 2021
TERT1Oct 23, 2020
TFAP2A1Oct 6, 2023
TFAP2A-AS21Oct 6, 2023
TFPT1Feb 6, 2024
TG3Dec 7, 2022
TGFBI1Jun 17, 2021
TGFBR12Feb 9, 2024
TGFBR21Apr 18, 2024
TH1Nov 30, 2023
THAP71Nov 30, 2023
THAP7-AS11Nov 30, 2023
THOC61Oct 23, 2020
THRA1May 3, 2022
TIMM8A1Oct 23, 2020
TJP21Oct 23, 2020
TK21Oct 23, 2020
TLK24Oct 23, 2020
TMEM1072Jan 11, 2024
TMEM1991Oct 23, 2020
TMEM2031Nov 2, 2023
TMEM2401Oct 23, 2020
TMEM2601Oct 23, 2020
TMEM2701May 29, 2024
TMEM63A1Aug 14, 2023
TMEM63B1Apr 24, 2024
TMEM672Oct 23, 2020
TMEM701Oct 23, 2020
TMPRSS33Dec 8, 2023
TMTC31Oct 23, 2020
TNFAIP31May 30, 2023
TNFRSF13B2Dec 7, 2022
TNNI21Dec 7, 2022
TNNI32Jun 17, 2021
TNPO31Oct 23, 2020
TNRC6B3Dec 15, 2023
TOPORS1Oct 23, 2020
TOR1A1Jun 17, 2021
TP536Jan 11, 2024
TPM12Jun 17, 2021
TPRN1Nov 2, 2023
TRAPPC102May 23, 2023
TRAPPC112Oct 23, 2020
TRAPPC21Oct 23, 2020
TRAPPC91Jun 17, 2021
TRIM501May 29, 2024
TRIM541Nov 10, 2023
TRIM81Oct 23, 2020
TRIO10Nov 9, 2023
TRIP125Oct 23, 2020
TRMT2A1Nov 30, 2023
TRPS12Apr 4, 2022
TSC12Nov 3, 2023
TSC25Apr 17, 2024
TSHR1Nov 30, 2023
TSPAN12Oct 23, 2020
TSPAN121Feb 16, 2024
TSR21Feb 1, 2021
TSSK21Nov 30, 2023
TTC191Oct 23, 2020
TTC21B1Feb 1, 2021
TTC81Feb 1, 2021
TTLL51Jun 22, 2023
TTN12Jun 13, 2024
TTN-AS19Jun 13, 2024
TTR2Oct 23, 2020
TUBA1A6Apr 21, 2023
TUBA4A2Feb 1, 2021
TUBB1Aug 16, 2022
TUBB2A4Jul 4, 2024
TUBB34Feb 14, 2023
TUBB4A3Dec 7, 2022
TUBB4B5Apr 15, 2024
TUBGCP51Nov 30, 2023
TUBGCP61Oct 23, 2020
TULP14Feb 1, 2023
TXNRD21Nov 30, 2023
TYMP1Oct 23, 2020
TYR2Apr 16, 2024
UBAP11Oct 23, 2020
UBE3A4May 3, 2023
UBR21Oct 5, 2023
UBR71Feb 4, 2022
UCHL15Jul 1, 2024
UCHL1-DT2Jul 1, 2024
UCN2Nov 10, 2023
UFD11Nov 30, 2023
UFM11Dec 12, 2023
UMOD3Feb 29, 2024
UPF11Nov 30, 2023
UPF3B1Sep 15, 2021
UQCRB1Oct 23, 2020
UROD1Oct 23, 2020
USH1C2Oct 23, 2020
USH1G2Mar 6, 2024
USH2A51Jul 9, 2024
USH2A-AS12Jan 30, 2023
USH2A-AS22Sep 7, 2023
USP211May 5, 2023
USP9X2Oct 23, 2020
VAC141Sep 15, 2021
VCL1Jun 17, 2021
VCP1May 29, 2024
VCX1Feb 22, 2024
VPS13A3Sep 15, 2021
VPS13B7Feb 19, 2024
VPS163Jun 17, 2021
VPS37D1May 29, 2024
VWA5B21Dec 15, 2023
WAC8Feb 1, 2024
WAS3Nov 15, 2022
WASHC51Oct 23, 2020
WDR191Nov 30, 2023
WDR242Mar 21, 2024
WDR264Oct 23, 2020
WDR371Dec 20, 2022
WDR455Jun 13, 2023
WDR731Oct 23, 2020
WDR811Oct 23, 2020
WFS11Feb 1, 2021
WHRN1May 3, 2023
WNT10A1Dec 7, 2022
WT13Mar 26, 2024
WWOX1Oct 23, 2020
XPA2Feb 1, 2021
XRCC41Oct 23, 2020
YARS14Sep 15, 2023
YY12Jun 17, 2021
ZBTB182Oct 23, 2020
ZBTB202Jun 27, 2024
ZBTB20-AS11Jun 27, 2024
ZBTB7A1Jun 26, 2024
ZC4H21Nov 11, 2022
ZDHHC81Nov 30, 2023
ZEB22Oct 23, 2020
ZFYVE264Aug 18, 2023
ZMIZ13Oct 23, 2020
ZMYND112Oct 23, 2020
ZNF1421Oct 23, 2020
ZNF1482Aug 23, 2022
ZNF2926Jun 17, 2024
ZNF4621Sep 15, 2021
ZNF741Nov 30, 2023
ZPR11Apr 3, 2024
ZSCAN102Apr 20, 2022

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria type 51Apr 16, 2024
46,XY sex reversal 31Feb 22, 2023
7q11.23 microduplication syndrome1May 29, 2024
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Feb 2, 2022
ALG3-congenital disorder of glycosylation1Dec 15, 2023
Achondrogenesis, type IB1Nov 23, 2023
Achromatopsia4Jan 9, 2024
Achromatopsia 24Apr 11, 2024
Achromatopsia 41Apr 24, 2024
Adams-Oliver syndrome1Sep 22, 2021
Adams-Oliver syndrome 51Nov 18, 2022
Adrenoleukodystrophy3Feb 9, 2024
Adult hypophosphatasia2May 24, 2023
Adult polyglucosan body disease2Feb 8, 2024
Aicardi Goutieres syndrome1Oct 4, 2023
Aicardi-Goutieres syndrome 61Jun 17, 2024
Alagille syndrome due to a JAG1 point mutation2Jul 1, 2024
Alexander disease1Dec 1, 2022
Alstrom syndrome1Dec 12, 2023
Alternating hemiplegia of childhood 11Dec 16, 2022
Alzheimer disease 31Nov 14, 2023
Alzheimer disease 41Aug 12, 2022
Amyotrophic lateral sclerosis1Oct 5, 2023
Amyotrophic lateral sclerosis type 11Dec 7, 2022
Amyotrophic lateral sclerosis type 101Mar 22, 2024
Amyotrophic lateral sclerosis type 121Dec 28, 2023
Amyotrophic lateral sclerosis type 91Jul 29, 2022
Androgen resistance syndrome5Jun 7, 2024
Angelman syndrome1May 3, 2023
Angioedema, hereditary, 41Dec 15, 2022
Anonychia1Nov 30, 2023
Arthrogryposis, distal, with impaired proprioception and touch1Aug 5, 2022
Astrocytic tumor1Feb 21, 2024
Ataxia-telangiectasia syndrome1May 21, 2024
Ateleiotic dwarfism1Nov 14, 2022
Autism spectrum disorder due to AUTS2 deficiency1Dec 2, 2022
Autism, susceptibility to, 51Jun 26, 2024
Autoimmune lymphoproliferative syndrome type 11Dec 8, 2022
Autoinflammatory syndrome, familial, Behcet-like 11May 30, 2023
Autosomal dominant cerebellar ataxia3Nov 30, 2023
Autosomal dominant non-syndromic intellectual disability7Jul 8, 2024
Autosomal dominant nonsyndromic hearing loss3May 2, 2022
Autosomal dominant nonsyndromic hearing loss 151May 24, 2024
Autosomal dominant nonsyndromic hearing loss 201Jul 3, 2024
Autosomal dominant nonsyndromic hearing loss 641Sep 22, 2021
Autosomal dominant nonsyndromic hearing loss 91Apr 22, 2024
Autosomal dominant optic atrophy classic form5Apr 30, 2024
Autosomal dominant polycystic kidney disease1Mar 2, 2023
Autosomal recessive DOPA responsive dystonia1Nov 30, 2023
Autosomal recessive ataxia, Beauce type2Apr 6, 2023
Autosomal recessive axonal neuropathy with neuromyotonia1Nov 14, 2023
Autosomal recessive bestrophinopathy1Jun 3, 2024
Autosomal recessive cerebellar ataxia1Nov 24, 2021
Autosomal recessive complex spastic paraplegia1Sep 30, 2021
Autosomal recessive congenital ichthyosis 4B1Jun 26, 2023
Autosomal recessive early-onset Parkinson disease 61Mar 15, 2024
Autosomal recessive inherited pseudoxanthoma elasticum2Dec 7, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I1Jul 14, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2J1Jun 13, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2L1Dec 7, 2022
Autosomal recessive non-syndromic intellectual disability1Apr 9, 2024
Autosomal recessive nonsyndromic hearing loss 41Dec 19, 2022
Autosomal recessive nonsyndromic hearing loss 791Nov 2, 2023
Autosomal recessive nonsyndromic hearing loss 82Dec 8, 2023
Autosomal recessive spinocerebellar ataxia 161Dec 19, 2023
Autosomal recessive spinocerebellar ataxia 181Feb 16, 2024
Bardet-Biedl syndrome1Jul 17, 2023
Bardet-Biedl syndrome 101Dec 5, 2022
Bardet-Biedl syndrome 51Dec 14, 2023
Bardet-Biedl syndrome 92Dec 20, 2022
Bartter disease type 11Jul 12, 2023
Behavioral variant of frontotemporal dementia1Jan 3, 2023
Bent bone dysplasia1Mar 3, 2022
Bethlem myopathy 1A1Dec 7, 2022
Bietti crystalline corneoretinal dystrophy1Mar 7, 2023
Birt-Hogg-Dube syndrome2Mar 8, 2023
Blepharophimosis - intellectual disability syndrome, SBBYS type1Dec 7, 2022
Bosch-Boonstra-Schaaf optic atrophy syndrome1Jun 5, 2024
Brain abnormalities, neurodegeneration, and dysosteosclerosis1Oct 25, 2022
Brain small vessel disease 1 with or without ocular anomalies1Jun 6, 2023
Branchiooculofacial syndrome1Oct 6, 2023
Branchiootorenal syndrome 11Feb 10, 2023
Breast-ovarian cancer, familial, susceptibility to, 11Mar 29, 2022
Breast-ovarian cancer, familial, susceptibility to, 51Jan 18, 2024
Brugada syndrome 11Jul 2, 2024
Brunner syndrome1Apr 4, 2024
CBL-related disorder1Dec 6, 2023
CHARGE syndrome6Aug 23, 2023
Capillary malformation-arteriovenous malformation 11Nov 18, 2022
Cerebellar ataxia1Feb 2, 2022
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Mar 16, 2023
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Nov 14, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Jan 31, 2023
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21Dec 2, 2022
Cerebral cavernous malformation 11Feb 2, 2022
Ceroid lipofuscinosis, neuronal, 6A1Apr 30, 2024
Charcot-Marie-Tooth disease1Nov 30, 2023
Charcot-Marie-Tooth disease X-linked dominant 11Dec 13, 2022
Charcot-Marie-Tooth disease X-linked recessive 51Apr 27, 2023
Charcot-Marie-Tooth disease axonal type 2N1Jun 2, 2023
Charcot-Marie-Tooth disease axonal type 2T1Jan 25, 2024
Charcot-Marie-Tooth disease axonal type 2Z1Jul 21, 2023
Charcot-Marie-Tooth disease dominant intermediate D1Nov 30, 2023
Charcot-Marie-Tooth disease type 1B1May 3, 2022
Charcot-Marie-Tooth disease type 4C1Feb 7, 2023
Charcot-Marie-Tooth disease type 4D1Sep 5, 2023
Charcot-Marie-Tooth disease, axonal, type 2EE2Dec 29, 2023
Charlevoix-Saguenay spastic ataxia3Jul 17, 2023
Childhood onset GLUT1 deficiency syndrome 21Dec 19, 2022
Childhood-onset epilepsy syndrome1May 3, 2024
Chorea1Dec 5, 2022
Choroidal dystrophy, central areolar 21Feb 27, 2024
Choroideremia1Jul 3, 2024
Christianson syndrome1Dec 13, 2022
Chromosome 1q21.1 duplication syndrome1Jun 26, 2024
Chromosome 2q32-q33 deletion syndrome1May 25, 2023
Chromosome 4q21 deletion syndrome1Mar 6, 2020
Chronic infantile neurological, cutaneous and articular syndrome1Dec 7, 2022
Cobblestone lissencephaly without muscular or ocular involvement4Jun 26, 2023
Coffin-Siris syndrome 12Dec 12, 2023
Cognitive impairment with or without cerebellar ataxia2Jun 21, 2024
Cohen syndrome4Feb 19, 2024
Complex cortical dysplasia with other brain malformations 11Feb 14, 2023
Complex cortical dysplasia with other brain malformations 53Jul 4, 2024
Cone-rod dystrophy2Feb 26, 2024
Cone-rod dystrophy 191Jun 22, 2023
Cone-rod dystrophy 33Apr 21, 2023
Cone-rod dystrophy and hearing loss 11Apr 17, 2023
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Jun 3, 2024
Congenital heart defects, multiple types, 21Mar 29, 2022
Congenital isolated adrenocorticotropic hormone deficiency1Sep 23, 2021
Congenital long QT syndrome1Oct 2, 2023
Congenital multicore myopathy with external ophthalmoplegia1Aug 8, 2023
Congenital myasthenic syndrome 4A1Nov 30, 2023
Congenital myotonia, autosomal dominant form2Dec 7, 2022
Congenital nongoitrous hypothyroidism 61May 3, 2022
Congenital stationary night blindness 2A1Mar 24, 2023
Cornelia de Lange syndrome 31Jul 21, 2023
Cranioectodermal dysplasia 41Nov 30, 2023
Craniofacial microsomia 21Apr 17, 2024
Cystic fibrosis1Dec 8, 2022
Danon disease1Dec 8, 2021
DeSanto-Shinawi syndrome due to WAC point mutation4Feb 1, 2024
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Aug 16, 2023
Dentinogenesis imperfecta type 21Nov 24, 2023
Developmental and epileptic encephalopathy 1031Jun 28, 2024
Developmental and epileptic encephalopathy, 131Jan 19, 2024
Developmental and epileptic encephalopathy, 171Jun 12, 2024
Developmental and epileptic encephalopathy, 21Dec 2, 2022
Developmental and epileptic encephalopathy, 271Nov 18, 2022
Developmental and epileptic encephalopathy, 331Dec 5, 2022
Developmental and epileptic encephalopathy, 361Nov 30, 2023
Developmental and epileptic encephalopathy, 42Apr 19, 2024
Developmental and epileptic encephalopathy, 425Jul 5, 2024
Developmental and epileptic encephalopathy, 621Mar 22, 2024
Developmental and epileptic encephalopathy, 661Mar 26, 2024
Developmental and epileptic encephalopathy, 671Jul 31, 2023
Developmental and epileptic encephalopathy, 71Sep 22, 2021
Developmental delay with or without intellectual impairment or behavioral abnormalities2Apr 5, 2024
Developmental delay with variable intellectual impairment and behavioral abnormalities1Nov 15, 2023
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy2Dec 15, 2022
Developmental delay, impaired speech, and behavioral abnormalities1Nov 18, 2022
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Dec 19, 2022
Developmental malformations-deafness-dystonia syndrome1Dec 7, 2022
Diamond-Blackfan anemia 31Jun 9, 2023
Diamond-Blackfan anemia 61Jan 31, 2024
Diamond-Blackfan anemia 71Dec 7, 2022
Diencephalic-mesencephalic junction dysplasia1Mar 3, 2022
Dilated cardiomyopathy 1G1May 7, 2024
Dilated cardiomyopathy 1NN1Nov 30, 2023
Distal arthrogryposis type 2B11Dec 7, 2022
Dominant hereditary optic atrophy1Sep 26, 2023
Duchenne muscular dystrophy1Dec 6, 2023
Dyskinesia with orofacial involvement, autosomal dominant1Dec 30, 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
Early-onset myopathy with fatal cardiomyopathy2Dec 7, 2022
Ectodermal dysplasia 13, hair/tooth type2Nov 30, 2023
Ehlers-Danlos syndrome, classic type2Sep 18, 2023
Ehlers-Danlos syndrome, classic type, 11Feb 10, 2023
Ehlers-Danlos syndrome, periodontal type 11Dec 12, 2023
Ehlers-Danlos syndrome, type 41Oct 29, 2021
Encephalopathy due to GLUT1 deficiency2Mar 19, 2024
Endometrial carcinoma1Aug 15, 2023
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1Jun 6, 2024
Epilepsy, early-onset, vitamin B6-dependent2Mar 22, 2023
Epilepsy, familial temporal lobe, 12Apr 4, 2022
Epileptic encephalopathy, infantile or early childhood, 22Aug 16, 2023
Episodic ataxia type 21Mar 22, 2024
Exudative vitreoretinopathy 41Jul 9, 2024
Exudative vitreoretinopathy 51Feb 16, 2024
Fabry disease1Feb 13, 2023
Familial Mediterranean fever1Dec 8, 2022
Familial adenomatous polyposis 11Oct 20, 2022
Familial amyloid nephropathy with urticaria AND deafness2Dec 7, 2022
Familial cancer of breast17May 23, 2024
Familial cold autoinflammatory syndrome 21Dec 7, 2022
Familial hyperthyroidism due to mutations in TSH receptor1Nov 30, 2023
Familial hypokalemia-hypomagnesemia1Dec 20, 2022
Familial juvenile hyperuricemic nephropathy type 11Feb 29, 2024
Familial melanoma1Jan 22, 2024
Familial multiple meningioma1May 14, 2024
Fanconi anemia complementation group A2Jun 26, 2023
Faundes-Banka syndrome1Feb 3, 2023
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies1Jul 11, 2023
Fliedner-Zweier syndrome1Jun 6, 2024
Floating-Harbor syndrome1Dec 7, 2022
Foveal hypoplasia 11Dec 1, 2022
Frontotemporal dementia2Dec 12, 2023
Frontotemporal dementia and/or amyotrophic lateral sclerosis 44Feb 15, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61May 29, 2024
Fumarase deficiency1Dec 8, 2022
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions2Dec 1, 2022
Generalized epilepsy with febrile seizures plus, type 91Jul 31, 2023
Genitopatellar syndrome3Mar 1, 2024
Glioma susceptibility 11Nov 20, 2023
Global developmental delay4Apr 20, 2022
Global developmental delay with speech and behavioral abnormalities3Dec 15, 2023
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
Glycogen storage disease IXa12Oct 25, 2023
Gnathodiaphyseal dysplasia1Dec 7, 2022
Gorlin syndrome1Sep 8, 2023
Growth delay due to insulin-like growth factor I resistance1Jun 3, 2024
Hearing impairment1Jul 30, 2021
Hearing loss, autosomal dominant 801Dec 22, 2022
Hereditary ataxia2Dec 5, 2022
Hereditary breast ovarian cancer syndrome5Jun 14, 2024
Hereditary cavernous hemangioma of brain1Oct 24, 2023
Hereditary leiomyomatosis and renal cell cancer1Jan 22, 2024
Hereditary nonpolyposis colon cancer2Aug 18, 2023
Hereditary sensory and autonomic neuropathy type 71Dec 8, 2022
Hereditary spastic paraplegia1Sep 22, 2021
Hereditary spastic paraplegia 101May 14, 2024
Hereditary spastic paraplegia 392Nov 30, 2023
Hereditary spastic paraplegia 3A1Dec 19, 2023
Hereditary spastic paraplegia 43May 29, 2024
Hereditary spastic paraplegia 482Jun 24, 2024
Hereditary spastic paraplegia 502Dec 8, 2022
Hereditary spastic paraplegia 5A2Apr 11, 2024
Hereditary spastic paraplegia 74Jul 11, 2023
Hereditary spastic paraplegia 771Jan 10, 2023
Hereditary spherocytosis type 11Jun 26, 2023
Hermansky-Pudlak syndrome 12Feb 20, 2024
Hermansky-Pudlak syndrome with pulmonary fibrosis1Feb 2, 2022
Hypercholesterolemia, autosomal dominant, type B3Dec 7, 2022
Hypercholesterolemia, familial, 11Nov 30, 2023
Hyperinsulinemic hypoglycemia, familial, 11Dec 7, 2022
Hyperkalemic periodic paralysis1Dec 8, 2022
Hypertriglyceridemia 11Apr 3, 2024
Hypertrophic cardiomyopathy 13Jun 28, 2024
Hypertrophic cardiomyopathy 42Jan 24, 2024
Hypogonadotropic hypogonadism 5 with or without anosmia1Dec 8, 2022
Hypoinsulinemic hypoglycemia and body hemihypertrophy1Feb 23, 2024
Hypomyelinating leukodystrophy 21Jan 11, 2024
Hypomyelinating leukodystrophy 61Dec 7, 2022
Hypoparathyroidism, deafness, renal disease syndrome1Mar 19, 2024
Hypothyroidism, congenital, nongoitrous, 21Oct 26, 2022
Hypotonia, ataxia, and delayed development syndrome1Jun 28, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Mar 31, 2022
Idiopathic basal ganglia calcification 13Mar 13, 2024
Imagawa-Matsumoto syndrome1May 17, 2024
Imerslund-Grasbeck syndrome type 21Mar 25, 2024
Immunodeficiency, common variable, 22Dec 7, 2022
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1Apr 9, 2024
Inherited acute myeloid leukemia1Jul 14, 2023
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Dec 8, 2022
Intellectual developmental disorder with autism and macrocephaly1Nov 30, 2023
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Jun 12, 2023
Intellectual developmental disorder with dysmorphic facies and ptosis1Feb 29, 2024
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Dec 8, 2022
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1May 15, 2024
Intellectual developmental disorder with or without peripheral neuropathy1May 11, 2023
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Nov 27, 2023
Intellectual developmental disorder, autosomal dominant 641Nov 6, 2023
Intellectual developmental disorder, autosomal dominant 651Dec 12, 2023
Intellectual developmental disorder, autosomal dominant 661Jan 9, 2024
Intellectual developmental disorder, autosomal dominant 671May 11, 2023
Intellectual developmental disorder, autosomal dominant 681Jul 31, 2023
Intellectual developmental disorder, autosomal recessive 671Dec 7, 2022
Intellectual disability, X-linked 1022Dec 8, 2022
Intellectual disability, X-linked 1041Dec 7, 2022
Intellectual disability, X-linked 212Jul 18, 2024
Intellectual disability, X-linked syndromic, Turner type1Dec 5, 2023
Intellectual disability, X-linked, syndromic, Houge type1Jul 31, 2023
Intellectual disability, autosomal dominant 131Nov 18, 2022
Intellectual disability, autosomal dominant 142Apr 22, 2024
Intellectual disability, autosomal dominant 151Dec 7, 2022
Intellectual disability, autosomal dominant 241Jul 11, 2022
Intellectual disability, autosomal dominant 381Dec 5, 2022
Intellectual disability, autosomal dominant 392Jun 12, 2024
Intellectual disability, autosomal dominant 401Mar 8, 2023
Intellectual disability, autosomal dominant 411Dec 7, 2022
Intellectual disability, autosomal dominant 452Apr 18, 2024
Intellectual disability, autosomal dominant 471Nov 30, 2023
Intellectual disability, autosomal dominant 501Jun 2, 2023
Intellectual disability, autosomal dominant 511Jan 29, 2024
Intellectual disability, autosomal dominant 55, with seizures2Aug 25, 2023
Intellectual disability, autosomal dominant 562Apr 18, 2023
Intellectual disability, autosomal dominant 62Dec 8, 2022
Intellectual disability, autosomal recessive 511Jun 10, 2024
Intellectual disability, autosomal recessive 531Dec 1, 2021
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Feb 27, 2024
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome3Feb 8, 2024
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Aug 23, 2022
Iodotyrosyl coupling defect3Dec 7, 2022
Irido-corneo-trabecular dysgenesis1Dec 1, 2022
Isolated microphthalmia 81Dec 2, 2022
Joubert syndrome 171Jul 6, 2023
Juvenile retinoschisis3Jun 2, 2023
KBG syndrome3Jul 19, 2024
Kabuki syndrome 12Nov 30, 2023
Kleefstra syndrome1Apr 21, 2022
Knobloch syndrome1Jun 5, 2023
Lamb-Shaffer syndrome1Jun 2, 2023
Landau-Kleffner syndrome1Dec 12, 2023
Leber congenital amaurosis2Jul 12, 2023
Leber congenital amaurosis 101Mar 17, 2023
Leber congenital amaurosis 132Aug 23, 2023
Leber congenital amaurosis 141Mar 24, 2023
Leber congenital amaurosis 151Apr 5, 2022
Leber congenital amaurosis 31Nov 4, 2022
Leber congenital amaurosis with early-onset deafness4Apr 15, 2024
Leigh syndrome1Nov 30, 2023
Leukodystrophy, hypomyelinating, 141Dec 12, 2023
Leukodystrophy, hypomyelinating, 19, transient infantile1Aug 14, 2023
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Dec 7, 2022
Leukoencephalopathy with calcifications and cysts2Jan 11, 2024
Leukoencephalopathy with mild cerebellar ataxia and white matter edema1Sep 22, 2021
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate1Nov 30, 2023
Leukoencephalopathy, diffuse hereditary, with spheroids 12Nov 14, 2023
Li-Campeau syndrome1Feb 4, 2022
Li-Fraumeni syndrome1Jan 11, 2024
Liang-Wang syndrome1Dec 19, 2023
Lipid proteinosis1Dec 7, 2022
Lissencephaly due to TUBA1A mutation3Apr 21, 2023
Lissencephaly type 1 due to doublecortin gene mutation1Apr 8, 2024
Loeys-Dietz syndrome1Feb 9, 2024
Loeys-Dietz syndrome 21Apr 18, 2024
Loeys-Dietz syndrome 61Nov 9, 2022
Long QT syndrome 11Jun 26, 2023
Long QT syndrome 23Aug 21, 2023
Lowe syndrome1Apr 5, 2024
Lung cancer1Nov 20, 2023
Lynch syndrome 41Sep 22, 2021
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin1Jun 26, 2024
Macrocephaly-autism syndrome3Jul 5, 2024
Macrocephaly-developmental delay syndrome2Nov 30, 2023
Mandibulofacial dysostosis-microcephaly syndrome1Jan 29, 2024
Marbach-Schaaf neurodevelopmental syndrome1Dec 7, 2022
Marfan syndrome3Feb 29, 2024
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
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Jan 30, 2024
Medulloblastoma1Jun 4, 2024
Megacystis-microcolon-intestinal hypoperistalsis syndrome 51Aug 29, 2022
Megalencephalic leukoencephalopathy with subcortical cysts 11Dec 12, 2023
Megalencephaly-capillary malformation-polymicrogyria syndrome1Dec 7, 2022
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Jun 26, 2023
Meningioma1Jan 25, 2023
Merosin deficient congenital muscular dystrophy1Dec 22, 2023
Methylmalonic acidemia with homocystinuria, type cblJ1Dec 4, 2023
Microcephaly1Jul 30, 2021
Microcephaly 5, primary, autosomal recessive1Sep 22, 2021
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Jun 11, 2024
Microcephaly-digital anomalies-intellectual disability syndrome2Nov 30, 2023
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome4Dec 7, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Nov 9, 2023
Migraine, familial hemiplegic, 12Jun 13, 2023
Migraine, familial hemiplegic, 21Dec 16, 2022
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1Jul 31, 2023
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1Feb 23, 2023
Mitochondrial DNA depletion syndrome 91Dec 7, 2022
Mitochondrial complex 1 deficiency, nuclear type 171Dec 12, 2023
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy1Feb 14, 2024
Miyoshi muscular dystrophy 32Dec 7, 2022
Mucopolysaccharidosis, MPS-III-A3Feb 9, 2024
Mucopolysaccharidosis, MPS-III-B1Jul 16, 2024
Muenke syndrome1Dec 28, 2022
Multifocal pattern dystrophy simulating fundus flavimaculatus2Oct 5, 2023
Multiple benign circumferential skin creases on limbs 11Aug 16, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 12Dec 7, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 21Jan 11, 2023
Multiple congenital exostosis1Nov 10, 2023
Multiple endocrine neoplasia, type 11Feb 9, 2024
Muscle AMP deaminase deficiency3Dec 7, 2022
Muscular dystrophy, adult-onset, with leukoencephalopathy1Jan 10, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11Dec 12, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112Feb 28, 2024
Myeloperoxidase deficiency2Nov 2, 2023
Myoclonic dystonia 113Aug 10, 2023
Myoclonic-atonic epilepsy1Dec 12, 2023
Myofibrillar myopathy 51Jun 2, 2022
Nephroblastoma1Mar 26, 2024
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 anomalies7Nov 30, 2023
Neurodevelopmental disorder with hearing loss and spasticity2May 12, 2023
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities1Apr 17, 2023
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures1Mar 8, 2024
Neurodevelopmental disorder with involuntary movements1Mar 21, 2024
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures1Feb 16, 2024
Neurodevelopmental disorder with microcephaly, short stature, and speech delay2May 23, 2023
Neurodevelopmental disorder with or without early-onset generalized epilepsy1Dec 7, 2022
Neurodevelopmental disorder with poor growth and skeletal anomalies1Jun 30, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Aug 22, 2022
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1Dec 7, 2022
Neurodevelopmental disorder with visual defects and brain anomalies1Dec 20, 2022
Neurofibroma1Apr 24, 2024
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1Jan 26, 2023
Neurofibromatosis, type 143Jun 12, 2024
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 11Mar 19, 2024
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 24Sep 15, 2023
Neuroocular syndrome1Nov 18, 2022
Neurooculocardiogenitourinary syndrome1Dec 20, 2022
Neutropenia, severe congenital, 1, autosomal dominant2Mar 25, 2024
Nicolaides-Baraitser syndrome1Jun 20, 2022
Non-syndromic X-linked intellectual disability3Jul 5, 2024
Noonan syndrome 14Jul 14, 2023
Noonan syndrome 101Jun 26, 2024
Noonan syndrome 41Jul 9, 2024
Noonan syndrome 61Jan 27, 2022
Noonan syndrome 81Apr 8, 2024
Noonan syndrome-like disorder with loose anagen hair 21Nov 18, 2022
O'Donnell-Luria-Rodan syndrome1May 3, 2022
Oculocutaneous albinism type 61Mar 8, 2024
Odonto-onycho-dermal dysplasia1Dec 7, 2022
Okur-Chung neurodevelopmental syndrome1Jul 31, 2023
Optic atrophy 31Feb 7, 2023
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Dec 5, 2022
Ornithine aminotransferase deficiency1Aug 29, 2023
Osteogenesis imperfecta1Feb 21, 2023
Osteogenesis imperfecta type I3Jul 15, 2024
Ovarian cancer3Jan 12, 2024
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Dec 7, 2022
PTEN hamartoma tumor syndrome1Jun 30, 2022
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Aug 7, 2023
Papillary carcinoma of the corpus uteri2Mar 18, 2024
Papillary tumor of the pineal region1Feb 1, 2024
Parenti-mignot neurodevelopmental syndrome1Nov 30, 2023
Patterned dystrophy of the retinal pigment epithelium1Oct 25, 2021
Pelizaeus-Merzbacher disease1Jan 17, 2023
Periventricular nodular heterotopia 91Apr 22, 2022
Perlman syndrome1Jan 18, 2023
Pervasive developmental disorder5Jun 27, 2024
Phelan-McDermid syndrome2Dec 19, 2023
Piebaldism1Mar 8, 2023
Pigmentary pallidal degeneration1Nov 14, 2023
Pitt-Hopkins syndrome3Dec 12, 2023
Poirier-Bienvenu neurodevelopmental syndrome1Mar 29, 2022
Pol III-related leukodystrophy1Mar 3, 2022
Polycystic kidney disease 22Jan 18, 2024
Polycystic kidney disease, adult type3Apr 23, 2024
Polydactyly, postaxial, type A11May 23, 2024
Polydactyly, postaxial, type A81Feb 10, 2023
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2Nov 17, 2022
Polyvalvular heart disease syndrome1Mar 29, 2022
Postaxial polydactyly type A1May 19, 2023
Postaxial polydactyly type B1May 19, 2023
Potassium-aggravated myotonia1Jan 29, 2024
Primary dilated cardiomyopathy1Nov 3, 2022
Primary erythromelalgia1Jan 5, 2023
Primary peritoneal carcinoma1Sep 22, 2021
Primrose syndrome1Jun 27, 2024
Progressive retinal dystrophy due to retinol transport defect2Nov 23, 2023
Proximal symphalangism 1A1Nov 6, 2023
Pyridoxine-dependent epilepsy1Dec 7, 2022
Radio-Tartaglia syndrome3Dec 12, 2023
Rare epilepsy1Apr 24, 2024
Rare genetic epilepsy1Dec 1, 2021
Rare genetic intellectual disability1Dec 1, 2021
Rauch-Steindl syndrome1Jun 26, 2023
Renal cell carcinoma1Nov 11, 2022
Renal cysts and diabetes syndrome1Nov 30, 2023
Renal hypodysplasia/aplasia 32Oct 24, 2023
Retinal dystrophy with or without macular staphyloma1Jul 4, 2024
Retinitis pigmentosa24Jun 5, 2024
Retinitis pigmentosa 13Jul 1, 2024
Retinitis pigmentosa 111Feb 27, 2023
Retinitis pigmentosa 121Feb 27, 2023
Retinitis pigmentosa 141Feb 1, 2023
Retinitis pigmentosa 203May 23, 2024
Retinitis pigmentosa 254Mar 21, 2024
Retinitis pigmentosa 263Jun 2, 2023
Retinitis pigmentosa 39Jul 2, 2024
Retinitis pigmentosa 331Feb 14, 2023
Retinitis pigmentosa 371Jun 18, 2024
Retinitis pigmentosa 394Jun 2, 2023
Retinitis pigmentosa 42Feb 26, 2024
Retinitis pigmentosa 401Jul 1, 2024
Retinitis pigmentosa 491May 11, 2023
Retinitis pigmentosa 621Jan 12, 2023
Retinitis pigmentosa 71Mar 17, 2023
Retinitis pigmentosa 881May 3, 2022
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1Apr 4, 2023
Retinoblastoma3Jun 20, 2024
Rett syndrome4Nov 30, 2023
Right atrial isomerism1Nov 30, 2023
Roifman syndrome1Dec 15, 2022
Rubinstein-Taybi syndrome1Jan 4, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations1Apr 20, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3Jul 17, 2023
SIN3A-related intellectual disability syndrome due to a point mutation1Feb 2, 2022
SLC35A2-congenital disorder of glycosylation1Aug 16, 2023
Schwannomatosis1Jul 20, 2023
Scimitar syndrome2Feb 2, 2022
Seizure1Jul 30, 2021
Seizures, benign familial neonatal, 11Jan 12, 2024
Sensorineural hearing loss disorder2Apr 20, 2022
Severe early-childhood-onset retinal dystrophy4Mar 17, 2023
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Dec 11, 2023
Severe intellectual disability-progressive spastic diplegia syndrome3Jun 26, 2024
Severe myoclonic epilepsy in infancy2Dec 13, 2022
Short stature-advanced bone age-early-onset osteoarthritis syndrome1Dec 5, 2023
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome2Aug 4, 2022
Short-rib thoracic dysplasia 6 with or without polydactyly1Dec 8, 2022
Shukla-Vernon syndrome1Dec 7, 2022
Sialidosis type 21Dec 8, 2022
Smith-Magenis syndrome2Dec 8, 2022
Snijders Blok-Campeau syndrome3Nov 30, 2023
Sotos syndrome1Sep 22, 2021
Spastic ataxia1Feb 2, 2022
Spastic ataxia 21Jul 16, 2024
Spastic paraplegia 79A, autosomal dominant, with ataxia3Jul 1, 2024
Spastic paraplegia 88, autosomal dominant1Feb 14, 2024
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia1Nov 7, 2023
Spastic tetraparesis1Jul 30, 2021
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome1Aug 11, 2023
Spinocerebellar ataxia 481Mar 21, 2024
Spinocerebellar ataxia type 142Dec 16, 2022
Spinocerebellar ataxia type 19/222Dec 12, 2023
Spinocerebellar ataxia type 421Dec 21, 2023
Spinocerebellar ataxia type 61May 26, 2023
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21Apr 27, 2023
Spongy degeneration of central nervous system2Apr 5, 2023
Stankiewicz-Isidor syndrome1Jul 5, 2024
Stargardt disease6Jan 11, 2023
Stickler syndrome type 12Dec 12, 2023
Supravalvar aortic stenosis1Nov 15, 2023
Syndromic X-linked intellectual disability Najm type1Dec 2, 2021
Syndromic microphthalmia type 51Mar 17, 2023
Tay-Sachs disease1Nov 17, 2022
Thomsen and Becker disease1Feb 15, 2024
Thrombocytopenia 11Nov 15, 2022
Treacher Collins syndrome1Nov 11, 2021
Trichorhinophalangeal dysplasia type I1Apr 4, 2022
Trichorhinophalangeal syndrome, type III1Apr 4, 2022
Trisomy 12p1Dec 12, 2023
Tuberous sclerosis 21Mar 7, 2023
Tuberous sclerosis syndrome6Apr 17, 2024
Tyrosinase-negative oculocutaneous albinism2Apr 16, 2024
Tyrosinase-positive oculocutaneous albinism1Sep 1, 2023
Ullrich congenital muscular dystrophy 1A1Jan 26, 2023
Uncombable hair syndrome 11Feb 13, 2024
Undetermined early-onset epileptic encephalopathy2Apr 4, 2022
Upshaw-Schulman syndrome2Dec 20, 2022
Usher syndrome1Mar 6, 2024
Usher syndrome type 18May 10, 2024
Usher syndrome type 1D4Apr 21, 2023
Usher syndrome type 21Sep 22, 2021
Usher syndrome type 2A5Jul 9, 2024
Usher syndrome type 2C2Jan 16, 2023
Usher syndrome type 2D1May 3, 2023
Usher syndrome type 3A1Jan 30, 2023
Variegate porphyria1May 5, 2023
Ververi-Brady syndrome1Aug 23, 2022
Visual impairment1Jul 30, 2021
Vitelliform macular dystrophy 24Aug 17, 2023
Vitelliform macular dystrophy 31Feb 8, 2023
Warsaw breakage syndrome1Feb 15, 2023
Wieacker-Wolff syndrome, female-restricted1Nov 11, 2022
Wiedemann-Steiner syndrome3Jun 28, 2024
Williams syndrome1Mar 6, 2020
Woolly hair-skin fragility syndrome1Jan 10, 2023
X-linked Alport syndrome3Dec 1, 2023
X-linked chondrodysplasia punctata 11Nov 30, 2023
X-linked cone-rod dystrophy 31Mar 17, 2023
X-linked hydrocephalus syndrome2Sep 30, 2021
X-linked ichthyosis with steryl-sulfatase deficiency1Feb 22, 2024
X-linked intellectual disability, Cantagrel type1Dec 7, 2022
Xeroderma pigmentosum, group D1Jun 25, 2024
ZSCAN10 Deficiency2Apr 20, 2022
not provided2331Sep 15, 2021