U.S. flag

An official website of the United States government

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. 7
Tuebingen
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: 3933

Gene

GeneSubmissionsLast Updated
A2ML1-AS21Dec 12, 2023
AAAS1Oct 23, 2020
AAGAB1Oct 23, 2020
AARS13Jun 2, 2023
ABCA121Jun 26, 2023
ABCA490May 5, 2026
ABCC62Dec 7, 2022
ABCC81Dec 7, 2022
ABCD117Dec 23, 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
ACAN3May 19, 2026
ACO23Apr 23, 2026
ACOX11Oct 23, 2020
ACP61Jun 26, 2024
ACTA12May 18, 2026
ACTB5Dec 7, 2022
ACTC11Mar 9, 2026
ACTG11Jul 3, 2024
ACTG22Aug 29, 2022
ACVRL11Apr 2, 2026
ACY11Oct 23, 2020
ADA1Mar 25, 2025
ADA21Sep 24, 2024
ADAMTS101Oct 23, 2020
ADAMTS132Dec 20, 2022
ADAMTSL21Oct 23, 2020
ADAMTSL43Apr 20, 2026
ADAMTSL4-AS12Apr 20, 2026
ADAMTSL4-AS23Apr 20, 2026
ADAR3Jun 17, 2024
ADAT31Feb 18, 2025
ADCY52Dec 30, 2022
ADGRG11Jun 17, 2021
ADGRL11Jan 20, 2026
ADGRL1-AS11Jan 20, 2026
ADGRV16Jan 16, 2023
ADNP10Feb 2, 2022
ADSL1Oct 23, 2020
AFF41Jun 11, 2025
AFG2A6Dec 7, 2022
AFG2B3May 12, 2023
AFG3L22Jun 17, 2021
AGO12Jan 2, 2025
AGTR12Jun 17, 2021
AHCY1Oct 23, 2020
AHDC14Jun 23, 2026
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
ALPL3Feb 11, 2025
ALS22Jun 17, 2021
AMDHD21May 3, 2024
AMN1Mar 25, 2024
AMPD14Dec 7, 2022
ANG1Jul 29, 2022
ANK15Jun 26, 2023
ANKH2Oct 28, 2025
ANKH-DT2Oct 28, 2025
ANKRD1121Jul 19, 2024
ANO103Oct 23, 2020
ANO31Oct 23, 2020
ANO511Dec 7, 2022
ANTXR21Jul 25, 2024
AP3B21Oct 23, 2020
AP4M12Dec 8, 2022
AP4S12Oct 23, 2020
AP5Z12Jun 24, 2024
APC10Sep 15, 2025
APOA51Apr 3, 2024
APOB2Dec 7, 2022
APTX1Jun 17, 2021
AR9Mar 23, 2026
ARCN11May 7, 2025
ARFGEF14Apr 17, 2026
ARHGEF91Jan 30, 2026
ARID1A2Apr 22, 2024
ARID1B20Oct 24, 2024
ARID21Mar 10, 2026
ARMC91Oct 22, 2024
ARMS21Dec 2, 2022
ARSA7Apr 20, 2026
ARSB1Oct 23, 2020
ARSG1Sep 15, 2021
ARSL1Nov 30, 2023
ARV11Feb 1, 2021
ARVCF1Nov 30, 2023
ARX3Jun 17, 2021
ASH1L1Aug 15, 2024
ASPA2Apr 5, 2023
ASPH1Jun 17, 2021
ASPM5Sep 22, 2021
ASS11Oct 23, 2020
ASXL11Oct 23, 2020
ASXL21Oct 23, 2020
ASXL34Feb 1, 2021
ATAD3A1Oct 23, 2020
ATL110Jan 30, 2025
ATM48May 29, 2026
ATN11Sep 30, 2021
ATP1A23Jul 11, 2023
ATP1A35Mar 16, 2023
ATP2A22Oct 23, 2020
ATP2B11Jan 9, 2024
ATP2B21Oct 6, 2025
ATP5ME2Jul 1, 2024
ATP6AP11Nov 20, 2023
ATP6V0C1May 3, 2024
ATP7B6Feb 6, 2025
ATP8A21Oct 23, 2020
ATRIP1Apr 29, 2026
ATRIP-TREX11Apr 29, 2026
ATRX4May 16, 2025
AUTS21Dec 2, 2022
AVPR21Aug 15, 2022
B3GALNT24Feb 27, 2026
B4GALNT11Jan 7, 2025
B4GALT31May 5, 2023
BAG32Oct 23, 2020
BAP15Oct 24, 2025
BARD17Sep 19, 2025
BAZ1B1May 29, 2024
BBS11Dec 20, 2022
BBS103Jul 17, 2023
BBS22Oct 23, 2020
BBS51Dec 14, 2023
BBS73Oct 23, 2020
BBS93Nov 4, 2024
BCAP311Aug 10, 2022
BCL11A7Oct 23, 2020
BCL11B5Nov 27, 2023
BCL2L2-PABPN13Sep 20, 2024
BCL7B1May 29, 2024
BCL91Jun 26, 2024
BCOR2Oct 23, 2020
BCORL11Dec 7, 2022
BEST121Sep 30, 2025
BICD21Oct 23, 2020
BICRA1Feb 1, 2021
BLTP13Oct 23, 2020
BMP41Apr 9, 2026
BMPER1Oct 23, 2020
BORCS61Jan 11, 2024
BPHL1Jul 4, 2024
BRAF3Feb 27, 2026
BRCA161Mar 3, 2026
BRCA266Jul 3, 2026
BRD42Feb 27, 2026
BRIP18Feb 20, 2026
BRPF14Feb 29, 2024
BRRIAR1Oct 23, 2020
BRSK21Jun 17, 2021
BRWD33Oct 14, 2024
BSCL21Oct 23, 2020
BTD2Oct 23, 2020
BTK3Sep 25, 2024
BUB1B1Oct 23, 2020
BUD231May 29, 2024
C10orf1051Apr 21, 2023
C11orf6519Dec 30, 2025
C17orf1071Nov 30, 2023
C19orf121Oct 23, 2020
C1QTNF52Jun 17, 2021
C1R1Dec 12, 2023
C1RL1Dec 12, 2023
C22orf391Nov 30, 2023
CACNA1A28Jun 19, 2026
CACNA1C2Mar 8, 2024
CACNA1C-AS31Dec 12, 2023
CACNA1F7Sep 3, 2024
CACNA1G2Dec 21, 2023
CACNA1S1Jun 17, 2021
CAMK2B1Sep 15, 2021
CAMTA12Jul 21, 2025
CAPN16Oct 23, 2020
CAPN34Jan 20, 2026
CARD111Sep 25, 2024
CARD11-AS11Sep 25, 2024
CARD141Feb 11, 2022
CASD18Dec 6, 2024
CASK4Dec 2, 2021
CASR2Jun 24, 2026
CAV31Aug 27, 2024
CBL2Dec 6, 2023
CBS5Jun 17, 2021
CC2D2A1Feb 18, 2026
CCDC1881Nov 30, 2023
CCDC401Jan 24, 2025
CCDC821Oct 23, 2020
CCDST1Oct 23, 2020
CCN62Oct 23, 2020
CCND21Oct 23, 2020
CCNH4May 9, 2025
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
CDHR16Jan 23, 2025
CDK101Oct 23, 2020
CDK133Feb 1, 2021
CDK5RAP21Oct 23, 2020
CDK81Dec 8, 2022
CDKL517Nov 6, 2025
CDKN1C1Oct 23, 2020
CDKN2A1Jun 17, 2021
CEP1202Oct 23, 2020
CEP1641Nov 26, 2025
CEP2501Oct 23, 2020
CEP29011Apr 16, 2025
CEP785Apr 17, 2023
CERKL8Aug 9, 2023
CERS11Nov 30, 2023
CERT11Feb 1, 2021
CFAP4103Jul 4, 2024
CFD2Nov 14, 2024
CFTR3Dec 8, 2022
CFTR-AS11Dec 8, 2022
CFTR-AS21Oct 23, 2020
CHAMP13Mar 8, 2023
CHAT1Jun 17, 2021
CHCHD102Oct 23, 2020
CHD1L1Jun 26, 2024
CHD27May 2, 2025
CHD35Mar 20, 2025
CHD52Feb 27, 2026
CHD721Nov 10, 2025
CHD87Nov 30, 2023
CHEK216Apr 27, 2026
CHM13Jan 17, 2025
CHRND1Feb 1, 2021
CHRNE1Nov 30, 2023
CHRNG1Sep 15, 2021
CIC5Apr 18, 2024
CLASP16Apr 17, 2026
CLASP1-AS16Apr 17, 2026
CLCN16Jul 18, 2025
CLCN21Sep 22, 2021
CLCN31Aug 4, 2025
CLCN51Oct 23, 2020
CLDN31May 29, 2024
CLDN41May 29, 2024
CLDN51Nov 30, 2023
CLIP21May 29, 2024
CLN61Apr 30, 2024
CLP11Oct 23, 2020
CLPB3Sep 25, 2024
CLRN14Jan 30, 2023
CLRN1-AS11Jan 30, 2023
CLTC5Jun 5, 2025
CLTCL11Nov 30, 2023
CNGA12May 11, 2023
CNGA318Aug 6, 2024
CNGB13May 6, 2025
CNGB34Jun 17, 2021
CNKSR24Sep 25, 2024
CNTNAP11Feb 1, 2021
CNTNAP21Oct 23, 2020
COCH2Mar 9, 2026
COCH-AS12Mar 9, 2026
COL11A12Mar 11, 2025
COL11A21Oct 23, 2020
COL12A12Oct 23, 2020
COL18A14Dec 3, 2024
COL1A16Apr 2, 2025
COL1A23Feb 25, 2025
COL2A110Apr 17, 2026
COL3A13Oct 29, 2021
COL4A14May 15, 2026
COL4A31Oct 1, 2025
COL4A42May 8, 2026
COL4A56Apr 29, 2025
COL5A13Sep 18, 2023
COL6A12Feb 6, 2026
COL6A21Dec 7, 2022
COMP1Oct 23, 2020
COMT1Nov 30, 2023
COPB11Mar 14, 2025
COQ45Feb 6, 2025
COQ8A3Oct 23, 2020
CP1Oct 23, 2020
CPEB1-AS11Oct 23, 2020
CPLANE11Jul 6, 2023
CPT22Jul 31, 2024
CR21Oct 23, 2020
CRB112Feb 27, 2023
CRBN1Oct 23, 2020
CREB31Dec 19, 2025
CREBBP7Jun 24, 2026
CRKL1Nov 30, 2023
CRX3Oct 23, 2020
CRYGS1Jul 25, 2023
CSF1R4Nov 14, 2023
CSHL11Nov 14, 2022
CSNK2A12Aug 26, 2024
CSNK2B3Jul 29, 2024
CSPP11Oct 23, 2020
CSTB1Nov 19, 2024
CT661Dec 2, 2022
CTBP11Oct 23, 2020
CTBP1-AS1Oct 23, 2020
CTC12Oct 23, 2020
CTCF3Jul 18, 2025
CTLA41Sep 25, 2024
CTNNB111Mar 10, 2026
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
CXorf651Sep 25, 2024
CYBB1Sep 25, 2024
CYFIP11Nov 30, 2023
CYFIP22Mar 2, 2026
CYGB2Oct 23, 2020
CYP11B21Oct 23, 2020
CYP1B13Feb 1, 2021
CYP24A11Jan 10, 2025
CYP27A19Oct 23, 2020
CYP2U13Jun 4, 2025
CYP2U1-AS11Jun 4, 2025
CYP4V23Sep 5, 2025
CYP7B15Apr 11, 2024
DACT11Jun 17, 2021
DAGLA1Nov 30, 2023
DARS22Dec 7, 2022
DCAF171Sep 15, 2021
DCTN51Oct 23, 2020
DCX1Apr 8, 2024
DDB21Oct 23, 2020
DDHD11Oct 23, 2020
DDX111Feb 15, 2023
DDX251Aug 4, 2025
DDX3X8Dec 8, 2022
DDX411Jul 14, 2023
DEAF12Jul 11, 2022
DENND5A1Oct 23, 2020
DEPDC51Oct 23, 2020
DES2Nov 5, 2024
DGCR111Nov 30, 2023
DGCR21Nov 30, 2023
DGCR51Nov 30, 2023
DGCR61Nov 30, 2023
DGCR6L1Nov 30, 2023
DGCR81Nov 30, 2023
DHCR74Oct 24, 2024
DHDDS2Nov 25, 2025
DHTKD11Apr 4, 2025
DHX91Nov 30, 2023
DIABLO1Sep 22, 2021
DIPK1A3Jan 31, 2024
DIS3L21Jan 18, 2023
DLD1Oct 23, 2020
DLG34Jan 23, 2025
DLG3-AS11Oct 23, 2020
DLG42Feb 1, 2021
DLL11Oct 23, 2020
DMD6Apr 22, 2026
DMP1-AS12Nov 24, 2023
DNAH11Jan 22, 2024
DNAH52Oct 23, 2020
DNAH92Oct 23, 2020
DNAJC191Apr 16, 2024
DNAJC302May 29, 2024
DNM12Oct 23, 2020
DNM21Oct 23, 2020
DNMT3A3Dec 23, 2025
DNMT3B1Oct 23, 2020
DOCK71Oct 23, 2020
DPYS1Oct 23, 2020
DSC21Dec 5, 2024
DSG22Dec 5, 2024
DSG2-AS11Oct 23, 2020
DSP5Nov 21, 2025
DSPP2Nov 24, 2023
DST1Jun 6, 2024
DUOX22Oct 23, 2020
DUSP292Apr 4, 2022
DYNC1H12Nov 18, 2022
DYNC2H15Jun 12, 2025
DYNC2LI11Sep 15, 2021
DYRK1A7Sep 15, 2021
DYSF2Feb 27, 2026
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
EHMT113Jun 11, 2026
EIF2B54Jun 17, 2021
EIF3F1Dec 7, 2022
EIF4H1May 29, 2024
EIF5A2Jul 31, 2025
ELANE7Nov 14, 2024
ELN2May 29, 2024
ELN-AS12May 29, 2024
ELOVL41Sep 15, 2021
ELP11Jun 4, 2024
ELP41Dec 1, 2022
EMD1Sep 15, 2021
ENG2Jun 16, 2025
EP3007Jul 28, 2025
EP300-AS12Jul 28, 2025
EPM2A1May 5, 2026
EPM2A-DT1May 5, 2026
EPS8L21Oct 23, 2024
ERCC22Jun 25, 2024
ERCC45Jun 25, 2025
ERF2Oct 23, 2020
ERLIN21Feb 26, 2026
ESCO21Oct 23, 2020
ESS21Nov 30, 2023
EVI2A2May 28, 2024
EXOSC31Oct 23, 2020
EXT11Nov 10, 2023
EXT22Oct 23, 2020
EYA11Feb 10, 2023
EYA41Aug 8, 2025
EYS24Aug 21, 2024
EZH21Oct 23, 2020
F121Feb 6, 2026
FAM111B1Oct 23, 2020
FAM131B1Dec 7, 2022
FAM161A6Sep 15, 2021
FAM171A22Jun 30, 2026
FAM50A1Nov 20, 2023
FANCA5Sep 25, 2024
FANCB1Nov 20, 2023
FANCD21Sep 25, 2024
FANCE2Jun 19, 2026
FARS21Jan 10, 2023
FAS2Nov 4, 2024
FBN113Dec 19, 2025
FBXL51Feb 18, 2026
FBXO117Nov 3, 2025
FBXW71Sep 12, 2022
FDX21Feb 14, 2024
FDX2-ZGLP11Feb 14, 2024
FDXR2Nov 7, 2024
FERRY31Oct 23, 2020
FFAR42Nov 23, 2023
FGD12Feb 1, 2021
FGF101Jul 1, 2026
FGF121Oct 23, 2020
FGF31Feb 1, 2021
FGFR24Jun 26, 2025
FGFR35May 12, 2026
FH5Feb 11, 2026
FHL11Sep 15, 2021
FIG43Oct 23, 2020
FITM21Oct 23, 2020
FKBP141Oct 23, 2020
FKBP14-AS11Oct 23, 2020
FKBP61May 29, 2024
FKRP1Jul 14, 2023
FLCN3Jul 7, 2025
FLG1Oct 23, 2020
FLNA1Oct 23, 2020
FLNC7Aug 11, 2025
FLNC-AS16Aug 11, 2025
FLVCR15Oct 23, 2020
FMO51Jun 26, 2024
FMR11Oct 23, 2020
FOXC11Oct 23, 2020
FOXF11Oct 23, 2024
FOXG17Aug 1, 2025
FOXG1-AS11Aug 1, 2025
FOXI31Apr 17, 2024
FOXP18Aug 23, 2022
FOXP26Feb 13, 2025
FOXP31Oct 23, 2020
FOXRED12Oct 23, 2020
FRMD72Oct 23, 2020
FRMPD41Dec 7, 2022
FTH18Sep 30, 2025
FUCA11Oct 23, 2020
FZD42Oct 23, 2020
FZD91May 29, 2024
G6PC12Jun 17, 2021
G6PC33Oct 23, 2020
G6PD3Oct 23, 2020
GAA4Jan 24, 2025
GABBR21Oct 23, 2020
GABRA11Oct 23, 2020
GABRB22Aug 16, 2023
GALC3Jun 17, 2021
GALNS3Jan 20, 2026
GALT1Aug 16, 2023
GAMT2Mar 5, 2025
GAREM21Jun 17, 2021
GARS11Jun 17, 2021
GATA21Oct 23, 2020
GATA31Mar 19, 2024
GATA41Mar 24, 2025
GATAD2B3Dec 11, 2023
GBA11Sep 15, 2021
GBA22Dec 19, 2025
GBE12Feb 8, 2024
GBF11Jun 18, 2025
GCH12Oct 23, 2020
GDAP11Jun 17, 2021
GDF11Nov 30, 2023
GDI11Nov 20, 2023
GFAP4Dec 6, 2024
GFPT12Jun 17, 2021
GH-LCR3Dec 20, 2024
GH11Nov 14, 2022
GJA11Oct 23, 2020
GJA31Apr 16, 2026
GJA51Jun 26, 2024
GJA81Jun 26, 2024
GJB16Feb 21, 2025
GJB213May 8, 2026
GJC21Jan 11, 2024
GJD2-DT1Mar 9, 2026
GK1Jun 18, 2025
GK-AS11Jun 18, 2025
GLA1Feb 13, 2023
GLB13Oct 23, 2020
GLDC1Oct 30, 2024
GLI11Feb 10, 2023
GLI35Mar 25, 2026
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
GNE3Jul 18, 2025
GNRHR3Jun 4, 2025
GP1BB1Nov 30, 2023
GP91Sep 15, 2021
GPC31Jun 17, 2021
GPHN5May 23, 2025
GPHRB1Jun 26, 2024
GPR1431Oct 23, 2020
GPR1792Jun 17, 2021
GPS21Jul 31, 2025
GREB1L6Jun 19, 2026
GREB1L-AS11Dec 22, 2022
GRIA11May 11, 2023
GRIA31Jun 17, 2021
GRID21Feb 16, 2024
GRIN13May 22, 2025
GRIN2A4Dec 12, 2023
GRIN2B3Dec 8, 2022
GRIN2C1Nov 7, 2024
GRM71Dec 7, 2022
GRN9Jun 30, 2026
GSC21Nov 30, 2023
GSDME1Sep 15, 2021
GUCA1A6Jan 19, 2026
GUCA1ANB-GUCA1A6Jan 19, 2026
GUCA1B1Aug 31, 2023
GUCY2D2Jun 17, 2021
H1-41Oct 23, 2020
H3-3A1Apr 28, 2025
H3-3B1Aug 8, 2025
HADHA1Jun 17, 2021
HAX12Sep 24, 2024
HBA-LCR1Jun 17, 2021
HBB1Oct 23, 2020
HCN21Sep 18, 2025
HDAC81Aug 5, 2024
HEXA5Nov 17, 2022
HEXB2Oct 29, 2024
HFE2Sep 15, 2021
HFE-AS11Sep 15, 2021
HGD1Jan 23, 2026
HIBCH1Oct 23, 2020
HINT11Nov 14, 2023
HIRA1Nov 30, 2023
HIVEP23Apr 16, 2026
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
HYAL21Sep 25, 2024
HYLS12Sep 15, 2025
IFIH13Oct 4, 2023
IFITM51Feb 21, 2023
IFT1405Jun 19, 2026
IGF1R2Dec 3, 2025
IGF21Sep 15, 2021
IKZF11Oct 23, 2020
IL17RC1Sep 15, 2021
IL1RAPL14Jul 18, 2025
IL2RG1Sep 25, 2024
IMPDH11Oct 23, 2020
IMPDH21May 5, 2026
IMPG11Sep 15, 2021
IMPG24Dec 11, 2024
INCA15Jun 17, 2021
INF21Mar 25, 2025
INPP5E1Sep 17, 2024
INS-IGF21Sep 15, 2021
IQCB13Jun 17, 2021
IQSEC23Sep 22, 2021
IRAK1BP11Dec 7, 2022
IRF2BPL5Feb 21, 2025
ITGA2B2Oct 23, 2020
ITGA31Feb 1, 2021
ITGA41Oct 23, 2020
ITGB41Nov 18, 2024
ITPR12Oct 23, 2020
JAG12Jul 1, 2024
JAGN11Oct 23, 2020
JARID21Feb 10, 2022
JMJD83Mar 21, 2024
KANSL12Oct 23, 2020
KAT6A4Oct 23, 2020
KAT6B6Feb 28, 2025
KCNA11Dec 5, 2024
KCNA23Oct 23, 2020
KCNB11Oct 23, 2020
KCNC11Oct 23, 2020
KCNC21Jun 28, 2024
KCNC31Sep 15, 2021
KCND36Dec 12, 2023
KCNE11Oct 23, 2020
KCNH26Nov 15, 2024
KCNJ24Jan 17, 2025
KCNK91Oct 23, 2020
KCNMA11Dec 19, 2023
KCNMA1-AS11Dec 19, 2023
KCNQ17May 15, 2026
KCNQ26Aug 5, 2024
KCNQ31Oct 23, 2020
KCNQ51Oct 23, 2020
KCNT12Oct 23, 2020
KCNV22Jun 17, 2021
KDM3B1Dec 1, 2021
KDM4B1Dec 12, 2023
KDM5C6Sep 15, 2021
KDM6A3Feb 4, 2026
KDM6B5Jun 30, 2026
KIAA05863Oct 23, 2020
KIDINS2201Oct 23, 2020
KIF114Jun 29, 2026
KIF1A14May 7, 2026
KIF1C10Jul 16, 2024
KIF21A1Oct 23, 2020
KIF26A1Sep 4, 2025
KIF5A12Jun 16, 2025
KIT1Mar 8, 2023
KLF71Oct 23, 2020
KLHL221Nov 30, 2023
KLHL401Oct 23, 2020
KLHL75Jul 29, 2024
KLLN1May 15, 2024
KMT2A11Jan 29, 2025
KMT2B3Jul 31, 2023
KMT2C1Nov 13, 2024
KMT2D10Aug 21, 2025
KMT2E4Sep 15, 2025
KMT5B5Jan 29, 2024
KPNA31Feb 14, 2024
KPTN2Oct 23, 2020
KRAS1Oct 23, 2020
KREMEN12Nov 30, 2023
KRIT12Oct 15, 2024
KRT101Dec 4, 2024
KRT10-AS11Dec 4, 2024
KRT141Jun 3, 2026
KRT161Oct 23, 2020
KRT51Oct 23, 2020
KRT6A1Oct 23, 2020
KYNU2Mar 24, 2025
L1CAM2Feb 27, 2026
L2HGDH1Sep 15, 2025
LAMA12Oct 23, 2020
LAMA22Dec 22, 2023
LAMB14Jun 26, 2023
LAMP24Dec 8, 2021
LARGE21Oct 1, 2025
LARP72Oct 23, 2020
LAT21May 29, 2024
LDLR8Sep 15, 2025
LGI11Apr 4, 2022
LIMK11May 29, 2024
LINC006241Jun 26, 2024
LINC010541Mar 8, 2023
LINC011381Jun 26, 2024
LINC015511Aug 1, 2025
LINC022451Aug 11, 2023
LINC025661Dec 12, 2023
LINC028051Jun 26, 2024
LINC028061Jun 26, 2024
LIPT21Oct 23, 2020
LIPT2-AS11Oct 23, 2020
LIX1L-AS11Oct 23, 2020
LLGL21Jun 11, 2026
LMBR11Sep 24, 2024
LMBRD21Nov 13, 2024
LMNA5Feb 9, 2026
LMX1B1Feb 19, 2025
LOC1005073463Jun 17, 2021
LOC1014482021Feb 10, 2023
LOC1019271572May 11, 2023
LOC1019271782Dec 16, 2024
LOC1027240584Feb 27, 2026
LOC1053698891Oct 23, 2020
LOC1053710461Oct 23, 2020
LOC1053715661Aug 9, 2024
LOC1060990621Oct 23, 2020
LOC1066279811Sep 15, 2021
LOC1066943162Sep 25, 2024
LOC1067998341Oct 23, 2020
LOC1071335101Oct 23, 2020
LOC1073033381Sep 25, 2024
LOC1073723151Oct 23, 2020
LOC1076524451Oct 23, 2020
LOC1079846381Oct 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
LOC1215875744Jun 30, 2026
LOC1221522964Jul 31, 2024
LOC1241531542Feb 1, 2021
LOC1251774891Oct 23, 2020
LOC1251775231Apr 18, 2023
LOC1268056611Oct 23, 2020
LOC1268057938Dec 23, 2024
LOC1268057941Oct 23, 2020
LOC1268058511Oct 23, 2020
LOC1268062531Oct 23, 2020
LOC1268064261Oct 23, 2020
LOC1268064621Oct 23, 2020
LOC1268065291Sep 15, 2021
LOC1268065831May 7, 2026
LOC1268066583Mar 10, 2026
LOC1268066591Jul 31, 2024
LOC1268596971Jan 21, 2026
LOC1268598071May 30, 2023
LOC1268598272Jun 19, 2026
LOC1268603921Apr 29, 2026
LOC1268603951Oct 31, 2024
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
LOC1287722541Feb 1, 2021
LOC1299351821Jun 13, 2024
LOC1299352141Mar 13, 2023
LOC1299928761Feb 27, 2026
LOC1299931102Sep 15, 2021
LOC1299945691Oct 23, 2020
LOC1299973811May 5, 2026
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
LOC1300629451Mar 5, 2025
LOC1300634861Feb 14, 2024
LOC1300653452Oct 23, 2020
LOC1300668231Oct 23, 2020
LOC1300670161May 14, 2024
LOC1300682022Jul 4, 2025
LOXHD11Oct 23, 2020
LPO1Sep 25, 2024
LRAT1Mar 24, 2023
LRP53Jan 15, 2026
LRRC74B1Nov 30, 2023
LRRK21Oct 23, 2020
LRSAM11Oct 23, 2020
LZTR110Mar 20, 2026
MAF1Feb 1, 2021
MAGEL22Oct 23, 2020
MAK3Jan 12, 2023
MAN2B14Sep 25, 2024
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
MASP21Dec 20, 2024
MAST31Feb 16, 2024
MAZ1Jan 21, 2026
MBD53May 12, 2025
MC2R2Jun 17, 2021
MC4R2Sep 15, 2021
MEA14Oct 23, 2020
MECP225Jun 24, 2026
MED121Oct 23, 2020
MED131Feb 13, 2025
MED13L6Dec 4, 2025
MED151Nov 30, 2023
MEF2C1Jan 20, 2026
MEFV7Dec 8, 2022
MEGF101Dec 9, 2024
MEIS22Jan 24, 2025
MEN12Apr 29, 2026
MERTK9Sep 15, 2021
METTL232Jun 17, 2021
METTL271May 29, 2024
METTL51Oct 23, 2020
MFF-DT1Oct 1, 2025
MFN22Oct 23, 2020
MFRP2Jun 17, 2021
MFSD81Jul 22, 2025
MHRT3Jun 28, 2024
MID12Jan 20, 2026
MINK11Nov 30, 2023
MIR103A21Nov 14, 2023
MIR103B21Nov 14, 2023
MIR12241Dec 15, 2023
MIR12253Nov 20, 2025
MIR13061Nov 30, 2023
MIR1971Apr 24, 2024
MIR208B2Jun 28, 2024
MIR302CHG2Oct 23, 2020
MIR36181Nov 30, 2023
MIR3936HG1Oct 23, 2020
MIR42571Apr 20, 2026
MIR42841May 29, 2024
MIR45211Jan 11, 2024
MIR46562Jun 24, 2024
MIR46851Feb 20, 2024
MIR47611Nov 30, 2023
MIR47671Feb 22, 2024
MIR50041Oct 23, 2020
MIR50871Jun 26, 2024
MIR55801Apr 9, 2026
MIR5901May 29, 2024
MIR60771Jun 26, 2024
MIR60841Mar 15, 2024
MIR6511B12Jun 10, 2025
MIR67881Aug 5, 2022
MIR67951Jun 13, 2025
MIR67971Sep 25, 2024
MIR68151Dec 3, 2024
MIR68161Nov 30, 2023
MIR68572Oct 21, 2025
MIR68701May 23, 2024
MIR68862Mar 24, 2025
MITF3Jun 17, 2021
MKKS1Oct 23, 2020
MLC12Apr 24, 2025
MLH16Sep 30, 2025
MLIP1Jan 21, 2026
MLXIPL1May 29, 2024
MME3Aug 7, 2024
MMP213Feb 27, 2026
MORC23Jul 21, 2023
MPDZ1Oct 23, 2020
MPL2Aug 22, 2024
MPO4Sep 25, 2024
MPV173Dec 29, 2023
MPZ10Nov 30, 2023
MRPL401Nov 30, 2023
MRPS222Jan 10, 2024
MSH24May 8, 2026
MSH613Nov 3, 2025
MSL23Jun 16, 2025
MSTO12Sep 26, 2024
MT-ATP67Aug 5, 2024
MT-ATP82Aug 5, 2024
MT-CO14Apr 20, 2026
MT-CO22Aug 5, 2024
MT-CO31Nov 30, 2023
MT-ND14Apr 20, 2026
MT-ND23Apr 20, 2026
MT-ND31Nov 30, 2023
MT-ND42Nov 30, 2023
MT-ND4L1Nov 30, 2023
MT-ND53Sep 15, 2025
MT-RNR12Apr 20, 2026
MT-RNR22Apr 20, 2026
MT-TA3Apr 20, 2026
MT-TC3Apr 20, 2026
MT-TD2Aug 5, 2024
MT-TF2Apr 20, 2026
MT-TG1Nov 30, 2023
MT-TH1Nov 30, 2023
MT-TI3Apr 20, 2026
MT-TK2Aug 5, 2024
MT-TL13Apr 20, 2026
MT-TM3Apr 20, 2026
MT-TN3Apr 20, 2026
MT-TQ3Apr 20, 2026
MT-TR1Nov 30, 2023
MT-TS14Aug 5, 2024
MT-TS21Nov 30, 2023
MT-TV2Apr 20, 2026
MT-TW4Apr 20, 2026
MT-TY3Apr 20, 2026
MTHFR2Jun 17, 2021
MTM12Jun 17, 2021
MUTYH7Jun 17, 2021
MVK2Oct 23, 2020
MVP-DT2Jan 21, 2026
MYBPC313Mar 25, 2025
MYCN2Aug 25, 2025
MYH111Apr 16, 2026
MYH21Oct 23, 2020
MYH31Oct 23, 2020
MYH61Jun 17, 2021
MYH714May 29, 2026
MYH92Sep 15, 2021
MYHAS1Oct 23, 2020
MYL21May 22, 2026
MYO15A1Aug 9, 2024
MYO18B2Feb 27, 2026
MYO191Oct 23, 2020
MYO63May 29, 2026
MYO7A31Jul 1, 2026
MYORG1Oct 23, 2020
MYOT1Oct 23, 2020
MYRF2Feb 2, 2022
MYRF-AS11Nov 30, 2023
MYT1L3Apr 16, 2026
NAA102Oct 23, 2020
NAA153Jun 2, 2023
NACC11Oct 23, 2020
NAGA1Oct 23, 2020
NAGLU4Aug 5, 2024
NALCN4Jun 3, 2024
NARS11Dec 23, 2025
NBAS3Aug 4, 2022
NBEA5Dec 7, 2022
NBPF111Jun 26, 2024
NBPF121Jun 26, 2024
NBPF141Jun 26, 2024
NCAPH21Oct 23, 2020
NDE11Apr 16, 2026
NDP1Oct 23, 2020
NDP-AS11Oct 23, 2020
NDRG11Sep 5, 2023
NDUFAF61Dec 12, 2023
NEB2Jun 17, 2021
NEFL2Sep 15, 2021
NEK11Dec 8, 2022
NEK81Apr 8, 2025
NEK92Oct 23, 2020
NEU11Dec 8, 2022
NEURL41Jul 31, 2025
NEXMIF5Nov 21, 2024
NF1103Apr 22, 2026
NF25Oct 15, 2025
NFIA1Jun 17, 2021
NFIB1Jun 17, 2021
NFIX1Oct 23, 2020
NFKB11Dec 18, 2024
NFKB21Sep 25, 2024
NGLY12Oct 23, 2020
NHLRC11Jun 17, 2021
NIPA12Nov 30, 2023
NIPA21Nov 30, 2023
NIPBL2Feb 1, 2021
NKX2-14Dec 19, 2025
NKX2-1-AS11Dec 19, 2025
NKX2-51Jul 2, 2026
NLRP121Dec 7, 2022
NLRP35Sep 15, 2025
NOG1Nov 6, 2023
NOTCH12Nov 18, 2022
NOTCH310Aug 27, 2025
NPC15Jul 18, 2025
NPHS11Oct 23, 2020
NPR21Nov 21, 2024
NPRL31Jun 17, 2021
NPTX11Jun 17, 2021
NR2E39Jan 14, 2026
NR2F13Jul 1, 2025
NR2F1-AS11Jul 1, 2025
NR5A11Feb 22, 2023
NRAS1Jan 27, 2022
NSD13Sep 22, 2021
NSD21Jun 26, 2023
NSMCE22Jan 24, 2025
NSUN51May 29, 2024
NTRK21Jun 17, 2021
NUDT21May 11, 2023
NUS14Aug 25, 2023
NYX2Oct 23, 2020
OAT1Aug 29, 2023
OCLN2Oct 23, 2020
OCRL4Sep 23, 2025
OFD12Oct 23, 2020
OPA128May 21, 2026
OPA1-AS13Feb 18, 2026
OPA31Feb 7, 2023
OPHN12Oct 23, 2020
OPTN2Dec 28, 2023
ORC12Mar 17, 2026
OSBPL21Oct 23, 2020
OSBPL81Jul 17, 2023
OSGEP1Oct 23, 2020
OTOG2Jun 17, 2021
OTOP21Mar 6, 2024
OTX21Mar 17, 2023
P2RX22Sep 11, 2025
P2RX61Nov 30, 2023
PABPN13Sep 20, 2024
PACS21Mar 26, 2024
PADI31Feb 13, 2024
PAFAH1B31Dec 12, 2023
PAGR11Jan 21, 2026
PAK11Oct 23, 2020
PALB224Nov 10, 2025
PALB2-AS11Nov 10, 2025
PANK26Nov 14, 2023
PARK71Oct 23, 2020
PAX22Aug 5, 2024
PAX31Sep 15, 2021
PAX64Dec 1, 2022
PAX82Oct 26, 2022
PAX8-AS12Oct 26, 2022
PCARE8Jun 17, 2021
PCCB2Oct 23, 2020
PCDH121Mar 3, 2022
PCDH158Apr 13, 2026
PCDH195Mar 4, 2026
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
PDE6B9Apr 1, 2026
PDE6B-AS14Jul 17, 2025
PDE6C1Nov 11, 2025
PDE8B2Jun 17, 2021
PDHA18Feb 27, 2026
PDHX1Oct 23, 2020
PDX11Nov 14, 2022
PDYN1Oct 23, 2020
PDYN-AS11Oct 23, 2020
PEX121Oct 23, 2020
PEX131Oct 23, 2020
PEX61Oct 23, 2020
PFN31Feb 6, 2026
PGAP13Sep 15, 2021
PGGHG1Feb 21, 2023
PHEX1Oct 23, 2020
PHF21A1Oct 1, 2025
PHF33Oct 23, 2020
PHF73Oct 24, 2025
PHF81Oct 23, 2020
PHIP5Dec 7, 2022
PHKA11Oct 23, 2020
PHKA22Oct 25, 2023
PHKB1Apr 7, 2026
PHOX2B3Oct 23, 2020
PHOX2B-AS11Oct 23, 2020
PHYH1Jun 17, 2021
PI4KA3Nov 30, 2023
PIDD11Aug 12, 2025
PIEZO11May 12, 2025
PIEZO25Aug 5, 2022
PIGA1Jan 11, 2023
PIGG4Oct 23, 2020
PIGN3Dec 7, 2022
PIGP1Jun 17, 2021
PIGV1Oct 23, 2020
PIGW1Oct 23, 2020
PIK3CA4Aug 30, 2024
PIK3CD1Oct 23, 2020
PIK3R21Jun 26, 2023
PINK12Mar 15, 2024
PINK1-AS2Mar 15, 2024
PJVK1Oct 23, 2020
PKD112Nov 20, 2025
PKD1-AS14Nov 20, 2025
PKD25Sep 15, 2025
PKD2L2-DT1Oct 23, 2020
PKHD11Oct 23, 2020
PKIG1Mar 25, 2025
PKLR1Mar 25, 2026
PKP25Jun 17, 2021
PLA2G63Oct 23, 2020
PLAG11Oct 31, 2024
PLCE12Nov 16, 2022
PLD11Jul 15, 2025
PLG1Dec 15, 2022
PLP11Jan 17, 2023
PLPBP2Mar 22, 2023
PLXNB3-AS19Dec 20, 2024
PMM25Sep 15, 2021
PMP222Oct 23, 2020
PMS24Sep 22, 2021
PNKP3Oct 23, 2020
PNPLA41Feb 22, 2024
PNPLA67Nov 30, 2023
POC1B2Jun 3, 2026
POC1B-DUSP62Jun 3, 2026
POGZ8Jul 11, 2025
POLE1Sep 11, 2025
POLG10Jun 17, 2021
POLGARF10Jun 17, 2021
POLR1C1Apr 24, 2024
POLR2F1Oct 23, 2020
POLR3A11Oct 23, 2020
POLR3B6Mar 3, 2022
POLR3H1Apr 23, 2026
POMGNT14Oct 20, 2025
POMT12Dec 12, 2023
POU4F31May 24, 2024
PPIAL4G1Jun 26, 2024
PPM1D1Jul 1, 2024
PPOX2Feb 27, 2026
PPP1CB2Nov 18, 2022
PPP2R3C2Dec 16, 2024
PPP2R5C1Nov 10, 2021
PPP2R5D5Feb 17, 2026
PPT12Oct 23, 2020
PQBP11Oct 23, 2020
PRCD2Oct 23, 2020
PRDM131Oct 23, 2020
PRDM151Jun 27, 2024
PRDX31Nov 24, 2021
PREPL3Feb 27, 2026
PRKAB21Jun 26, 2024
PRKAR1A1Sep 15, 2021
PRKAR1B2Dec 7, 2022
PRKCG6Jul 10, 2025
PRKN1Oct 23, 2020
PRMT71Oct 23, 2020
PRNP1Oct 23, 2020
PRODH1Nov 30, 2023
PROM14Aug 20, 2024
PRPF3113Oct 2, 2025
PRPF31-AS19Oct 2, 2025
PRPF41Oct 23, 2020
PRPF85Oct 17, 2023
PRPH222Dec 1, 2025
PRPS11Apr 27, 2023
PRR122Nov 18, 2022
PRRT22Jan 21, 2026
PRSS232Oct 23, 2020
PRUNE11Jun 17, 2021
PSD1Sep 25, 2024
PSEN19Oct 8, 2025
PSEN21Aug 12, 2022
PSMD123Jul 5, 2024
PTCH17Nov 4, 2024
PTCHD11Oct 23, 2020
PTCHD1-AS1Oct 23, 2020
PTEN14Jul 5, 2024
PTPN1119Aug 20, 2025
PTPRA2Jun 17, 2021
PTPRQ3Sep 22, 2025
PTRH21Mar 19, 2024
PTS1Oct 23, 2020
PUDP1Feb 22, 2024
PUM11Feb 27, 2026
PURA9Aug 7, 2023
PUS32Sep 15, 2025
PUS71Dec 8, 2022
PYCR11Jun 17, 2021
PYGM1Jun 17, 2021
PYROXD12Oct 23, 2020
QRICH12May 5, 2026
RAB281Oct 21, 2024
RAB33B2Sep 15, 2021
RAB3GAP11Oct 23, 2020
RAB9B1Jan 17, 2023
RAC12Sep 15, 2025
RAD51C6Sep 15, 2021
RAD51D5Feb 13, 2025
RAD51L3-RFFL5Feb 13, 2025
RAF12Nov 30, 2023
RAG11Sep 25, 2024
RAI18Dec 8, 2022
RANBP11Nov 30, 2023
RANBP21Feb 1, 2021
RASA14May 9, 2025
RB15Mar 10, 2025
RBM201Oct 23, 2020
RBM27-POU4F31May 24, 2024
RBM8A1Oct 23, 2020
RBP42Nov 23, 2023
RDH111Apr 4, 2023
RDH124May 23, 2025
REEP15Jun 17, 2021
REEP61Sep 15, 2021
RELA2Jul 24, 2025
RETREG11Sep 22, 2021
RETREG1-AS11Sep 22, 2021
RETREG31Sep 2, 2024
RFC21May 29, 2024
RHBDL12Mar 21, 2024
RHO14Apr 17, 2025
RHOBTB24Jul 21, 2025
RILP1Oct 17, 2023
RIT15Dec 22, 2025
RLBP11Oct 23, 2020
RNASE41Jul 29, 2022
RNASEH11Sep 26, 2024
RNASEH2B1Oct 23, 2020
RNF141Mar 3, 2022
RNF1701Jun 17, 2021
RNU122Oct 8, 2024
RNU2-21Apr 9, 2026
RNU4-11Oct 23, 2024
RNU4-22Apr 2, 2026
RNU4ATAC6Apr 17, 2026
RNVU1-11Jun 26, 2024
RNVU1-271Jun 26, 2024
RNVU1-31Jun 26, 2024
RNVU1-71Jun 26, 2024
RNVU1-81Jun 26, 2024
RORA3Jul 1, 2026
RORA-AS13Jul 1, 2026
RP117Apr 29, 2026
RP1L14May 3, 2022
RP26Jul 4, 2025
RPE6512May 23, 2024
RPGR42Mar 11, 2026
RPL111Dec 7, 2022
RPL131Jul 15, 2025
RPL36A-HNRNPH22Feb 13, 2023
RPL53Jan 31, 2024
RPS191Sep 25, 2024
RPS241Jun 9, 2023
RS114Nov 6, 2025
RSPO41Nov 30, 2023
RTL101Nov 30, 2023
RTN4R1Nov 30, 2023
RUNX22Aug 5, 2024
RYR17May 26, 2026
RYR22Sep 15, 2021
SACS13Jul 17, 2023
SAMD91Mar 25, 2025
SATB26May 25, 2023
SBDS3Oct 23, 2020
SCAF46Dec 20, 2024
SCAMP41Feb 18, 2025
SCAMP51Nov 30, 2023
SCARF21Nov 30, 2023
SCARNA211Nov 30, 2023
SCN11A2Jul 1, 2026
SCN1A8Feb 27, 2026
SCN1A-AS111Feb 27, 2026
SCN2A8Feb 1, 2021
SCN3A2Mar 22, 2024
SCN4A3Dec 20, 2024
SCN5A7Aug 26, 2025
SCN8A6Jun 21, 2024
SCN9A4Jan 5, 2023
SCO12Feb 1, 2021
SCO21Oct 23, 2020
SCUBE31Feb 1, 2021
SDHB3Aug 1, 2024
SDHC1Nov 30, 2023
SDHD2Oct 23, 2020
SEC24D2Oct 23, 2020
SELENON3Jan 13, 2025
SEMA6B1Oct 23, 2020
SEPTIN51Nov 30, 2023
SERAC12Oct 23, 2020
SERPINC11Jun 17, 2021
SERPIND11Nov 30, 2023
SET2Oct 23, 2020
SETBP16Aug 21, 2024
SETD1A3Feb 21, 2023
SETD1B1Oct 18, 2024
SETD21Oct 29, 2024
SETD59Feb 27, 2024
SETX3Apr 27, 2023
SF3B41Oct 23, 2020
SFTA34Dec 19, 2025
SGCA1Oct 23, 2020
SGCB2Oct 23, 2020
SGCE8Dec 6, 2024
SGSH3Feb 9, 2024
SH3TC25Feb 7, 2023
SHANK22Jun 17, 2021
SHANK39Feb 6, 2026
SHH1Sep 24, 2024
SHOC21Oct 23, 2020
SHOX2Jun 17, 2021
SIN3A3Feb 2, 2022
SIPA11Sep 25, 2024
SIRT42Apr 2, 2026
SIX12Feb 20, 2026
SIX31Oct 23, 2020
SLC12A11Jul 12, 2023
SLC12A32Dec 20, 2022
SLC13A31Nov 30, 2023
SLC16A21Oct 23, 2020
SLC17A52Feb 1, 2021
SLC19A12Jun 5, 2023
SLC19A22Apr 25, 2025
SLC19A33Oct 23, 2020
SLC1A41Aug 11, 2023
SLC20A25Apr 27, 2026
SLC22A52Oct 23, 2020
SLC24A11Sep 15, 2021
SLC24A51Mar 8, 2024
SLC25A13Nov 30, 2023
SLC25A151Feb 1, 2021
SLC25A41Jul 31, 2023
SLC25A461Jul 30, 2024
SLC26A111Feb 9, 2024
SLC26A22Nov 23, 2023
SLC26A32Sep 15, 2021
SLC26A41Dec 19, 2022
SLC2A17Aug 22, 2025
SLC2A1-DT2Nov 30, 2023
SLC2A101Jul 18, 2025
SLC34A11Feb 6, 2026
SLC34A31May 21, 2026
SLC35A11Sep 24, 2024
SLC35A21Aug 16, 2023
SLC35D2-HSD17B31Oct 23, 2020
SLC37A42Oct 23, 2020
SLC39A81Feb 27, 2026
SLC3A11Feb 27, 2026
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
SMAD32May 12, 2026
SMAD41Oct 23, 2020
SMARCA12Jul 5, 2024
SMARCA23Mar 6, 2025
SMARCB11Dec 7, 2022
SMARCC24Oct 21, 2025
SMC1A4Oct 21, 2025
SMC31Jul 21, 2023
SMG91Oct 23, 2020
SMPD11Oct 23, 2020
SMPX1Oct 23, 2020
SNAP292Nov 30, 2023
SNHG145Jan 20, 2026
SNORA58B1Feb 5, 2026
SNORA77B1Nov 30, 2023
SNORD1183Dec 11, 2025
SNORD81Nov 30, 2023
SNORD91Nov 30, 2023
SNRNP2002Feb 14, 2023
SNRPB1Jan 24, 2025
SOD14Jan 7, 2025
SON4Feb 1, 2021
SORD2Sep 15, 2021
SOS16Jul 9, 2024
SOX101Oct 23, 2020
SOX114Mar 30, 2026
SOX181Jun 17, 2021
SOX24Sep 15, 2021
SOX2-OT4Sep 15, 2021
SOX41Oct 23, 2020
SOX54Jan 27, 2025
SOX94Mar 3, 2022
SPAG81Nov 21, 2024
SPAST53Apr 27, 2026
SPATA222Apr 5, 2023
SPATA73Nov 4, 2022
SPEN5Jul 22, 2025
SPG1111Feb 1, 2021
SPG211Sep 22, 2021
SPG716Jul 15, 2025
SPINK51Jun 17, 2021
SPTAN17Jun 24, 2026
SPTBN12Nov 18, 2022
SPTBN23Aug 20, 2024
SPTBN41Oct 23, 2020
SPTLC21Oct 23, 2020
SRCAP1Dec 7, 2022
SRP541Oct 23, 2020
SRPK21Feb 2, 2022
SSBP11Oct 23, 2020
SSUH21Aug 27, 2024
STAG12Nov 30, 2023
STAMBP1Oct 23, 2020
STAR2Oct 23, 2020
STAT11Oct 23, 2020
STK111Oct 20, 2021
STK161Dec 16, 2025
STRC2May 4, 2026
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
SYNE18Aug 26, 2024
SYNGAP18Feb 27, 2026
SYNGAP1-AS17Feb 27, 2026
SYP1Oct 23, 2020
SZT23Oct 23, 2020
TAB23Jun 19, 2026
TACO11Oct 23, 2020
TANGO21Nov 30, 2023
TAOK15Sep 15, 2025
TARDBP4Dec 20, 2024
TBC1D201Jun 30, 2025
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
TBX52Jun 19, 2026
TCEA21Jun 17, 2021
TCF203Nov 15, 2023
TCF410Dec 12, 2023
TCOF12May 5, 2025
TEAD31Feb 1, 2023
TECTA1Sep 15, 2021
TERT1Oct 23, 2020
TFAP2A1Oct 6, 2023
TFAP2A-AS21Oct 6, 2023
TFG1Mar 26, 2025
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
TIMM8A2Sep 25, 2024
TJP21Oct 23, 2020
TK21Oct 23, 2020
TLK24Oct 23, 2020
TMC12Jul 6, 2026
TMEM1073Dec 11, 2025
TMEM161B1Apr 16, 2026
TMEM2031Nov 2, 2023
TMEM2041Jun 19, 2026
TMEM2401Oct 23, 2020
TMEM2601Oct 23, 2020
TMEM2701May 29, 2024
TMEM63A1Aug 14, 2023
TMEM63B1Apr 24, 2024
TMEM672Oct 23, 2020
TMEM701Oct 23, 2020
TMPRSS35Aug 9, 2024
TMTC31Oct 23, 2020
TNFAIP32Sep 25, 2024
TNFRSF13B2Dec 7, 2022
TNNI21Dec 7, 2022
TNNI32Jun 17, 2021
TNPO31Oct 23, 2020
TNRC6B3Dec 15, 2023
TOPORS1Oct 23, 2020
TOR1A1Jun 17, 2021
TP537Oct 18, 2024
TP631Nov 4, 2025
TPM12Jun 17, 2021
TPRN1Nov 2, 2023
TRAPPC102May 23, 2023
TRAPPC112Oct 23, 2020
TRAPPC21Oct 23, 2020
TRAPPC91Jun 17, 2021
TREX11Apr 29, 2026
TRIM501May 29, 2024
TRIM541Nov 10, 2023
TRIM81Oct 23, 2020
TRIO10Nov 9, 2023
TRIP126Jul 18, 2025
TRMT2A1Nov 30, 2023
TRPM31Sep 4, 2025
TRPS12Apr 4, 2022
TRUB21Feb 6, 2025
TSC13Dec 10, 2024
TSC215Feb 11, 2026
TSEN541Jun 11, 2026
TSHR1Nov 30, 2023
TSHR-AS11Nov 30, 2023
TSPAN14Oct 20, 2025
TSPAN121Feb 16, 2024
TSPEAR2Feb 27, 2026
TSR21Feb 1, 2021
TSSK21Nov 30, 2023
TTC191Oct 23, 2020
TTC21B1Feb 1, 2021
TTC81Feb 1, 2021
TTLL51Jun 22, 2023
TTN14Jun 19, 2026
TTN-AS111Jun 19, 2026
TTR2Oct 23, 2020
TUBA1A8Apr 16, 2026
TUBA4A3Dec 16, 2025
TUBA4B1Dec 16, 2025
TUBB1Aug 16, 2022
TUBB2A4Jul 4, 2024
TUBB36Mar 3, 2026
TUBB4A4Aug 2, 2024
TUBB4B5Apr 15, 2024
TUBG11Sep 2, 2024
TUBGCP51Nov 30, 2023
TUBGCP61Oct 23, 2020
TULP18Sep 23, 2025
TWNK1Sep 15, 2025
TXNRD21Nov 30, 2023
TYMP1Oct 23, 2020
TYR3Sep 4, 2024
UBAP11Oct 23, 2020
UBAP1L1Aug 19, 2024
UBAP2L2Feb 5, 2026
UBE3A5Jan 20, 2026
UBR21Oct 5, 2023
UBR71Feb 4, 2022
UCHL17May 14, 2025
UCHL1-DT4May 14, 2025
UCN2Nov 10, 2023
UFD11Nov 30, 2023
UFM11Dec 12, 2023
UMOD3Feb 29, 2024
UPF11Nov 30, 2023
UPF3B1Sep 15, 2021
UQCRB1Oct 23, 2020
UQCRB-AS11Oct 23, 2020
UROD1Oct 23, 2020
USH1C3Aug 29, 2024
USH1G3May 16, 2025
USH2A61Dec 9, 2025
USH2A-AS12Jan 30, 2023
USH2A-AS23Aug 22, 2024
USP211May 5, 2023
USP9X2Oct 23, 2020
VAC141Sep 15, 2021
VCAN1Jan 7, 2026
VCAN-AS11Jan 7, 2026
VCL1Jun 17, 2021
VCP1May 29, 2024
VCX1Feb 22, 2024
VMA121Oct 23, 2020
VPS13A3Sep 15, 2021
VPS13B7Feb 19, 2024
VPS163Jun 17, 2021
VPS37D1May 29, 2024
VWA5B21Dec 15, 2023
WAC8Feb 1, 2024
WAS3Nov 15, 2022
WASF11Feb 27, 2026
WASHC51Oct 23, 2020
WDR191Nov 30, 2023
WDR242Mar 21, 2024
WDR264Oct 23, 2020
WDR371Dec 20, 2022
WDR455Jun 13, 2023
WDR621Sep 23, 2025
WDR731Oct 23, 2020
WDR741Apr 9, 2026
WDR811Oct 23, 2020
WFS12Mar 27, 2026
WHRN1May 3, 2023
WNT10A1Dec 7, 2022
WT13Mar 26, 2024
WWOX1Oct 23, 2020
XK1Sep 1, 2025
XPA2Feb 1, 2021
XRCC41Oct 23, 2020
YARS14Sep 15, 2023
YY13Jul 18, 2025
ZBTB182Oct 23, 2020
ZBTB202Jun 27, 2024
ZBTB20-AS11Jun 27, 2024
ZBTB7A1Sep 3, 2024
ZC4H23May 15, 2025
ZDHHC81Nov 30, 2023
ZDHHC91Oct 21, 2024
ZEB22Oct 23, 2020
ZFYVE264Aug 18, 2023
ZMIZ13Oct 23, 2020
ZMYND112Oct 23, 2020
ZNF1061Jan 20, 2026
ZNF1421Oct 23, 2020
ZNF1482Aug 23, 2022
ZNF2926Jun 17, 2024
ZNF4621Sep 15, 2021
ZNF741Nov 30, 2023
ZNFX11Sep 24, 2024
ZPR11Apr 3, 2024
ZRS1Sep 24, 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
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Jun 23, 2026
ALG3-congenital disorder of glycosylation1Dec 15, 2023
APC-related attenuated familial adenomatous polyposis1Jan 10, 2025
Achondrogenesis, type IB1Nov 23, 2023
Achromatopsia4Jan 9, 2024
Achromatopsia 25Aug 6, 2024
Achromatopsia 41Apr 24, 2024
Acoustic neuroma3Oct 15, 2025
Adams-Oliver syndrome1Sep 22, 2021
Adams-Oliver syndrome 51Nov 18, 2022
Adrenoleukodystrophy5Dec 23, 2024
Adult hypophosphatasia3Feb 11, 2025
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
Alkaptonuria1Jan 23, 2026
Alpha thalassemia-X-linked intellectual disability syndrome1May 16, 2025
Alstrom syndrome1Dec 12, 2023
Alternating hemiplegia of childhood 11Dec 16, 2022
Alveolar capillary dysplasia with pulmonary venous misalignment1Oct 23, 2024
Alzheimer disease 33Dec 20, 2024
Alzheimer disease 41Aug 12, 2022
Amyotrophic lateral sclerosis1Oct 5, 2023
Amyotrophic lateral sclerosis type 13Jan 7, 2025
Amyotrophic lateral sclerosis type 103Dec 20, 2024
Amyotrophic lateral sclerosis type 121Dec 28, 2023
Amyotrophic lateral sclerosis type 91Jul 29, 2022
Andersen Tawil syndrome1Jan 17, 2025
Androgen resistance syndrome7Mar 23, 2026
Aneurysm-osteoarthritis syndrome1May 12, 2026
Angelman syndrome2Jan 20, 2026
Angioedema, hereditary, 41Dec 15, 2022
Arrhythmogenic right ventricular cardiomyopathy1Dec 5, 2024
Arrhythmogenic right ventricular dysplasia 81Nov 21, 2025
Arterial tortuosity syndrome1Jul 18, 2025
Arthrogryposis, distal, with impaired proprioception and touch1Aug 5, 2022
Asphyxiating thoracic dystrophy 33Jun 12, 2025
Astrocytic tumor1Feb 21, 2024
Ataxia-telangiectasia syndrome2Sep 25, 2024
Ateleiotic dwarfism1Nov 14, 2022
Atrial septal defect 71Jul 2, 2026
Atrioventricular septal defect 41Mar 24, 2025
Auditory neuropathy-optic atrophy syndrome2Nov 7, 2024
Autism spectrum disorder due to AUTS2 deficiency1Dec 2, 2022
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency1Sep 25, 2024
Autoimmune lymphoproliferative syndrome type 12Nov 4, 2024
Autoinflammatory syndrome, familial, Behcet-like 12Sep 25, 2024
Autosomal dominant Alport syndrome1Oct 1, 2025
Autosomal dominant cerebellar ataxia3Nov 30, 2023
Autosomal dominant epidermolytic ichthyosis1Dec 4, 2024
Autosomal dominant hypocalcemia 11Jun 24, 2026
Autosomal dominant non-syndromic intellectual disability7Jul 8, 2024
Autosomal dominant nonsyndromic hearing loss4Mar 11, 2025
Autosomal dominant nonsyndromic hearing loss 101Aug 8, 2025
Autosomal dominant nonsyndromic hearing loss 111Jan 30, 2025
Autosomal dominant nonsyndromic hearing loss 151May 24, 2024
Autosomal dominant nonsyndromic hearing loss 201Jul 3, 2024
Autosomal dominant nonsyndromic hearing loss 221May 29, 2026
Autosomal dominant nonsyndromic hearing loss 231Feb 20, 2026
Autosomal dominant nonsyndromic hearing loss 361Jul 6, 2026
Autosomal dominant nonsyndromic hearing loss 411Sep 11, 2025
Autosomal dominant nonsyndromic hearing loss 61Mar 27, 2026
Autosomal dominant nonsyndromic hearing loss 641Sep 22, 2021
Autosomal dominant nonsyndromic hearing loss 92Mar 9, 2026
Autosomal dominant optic atrophy classic form12May 21, 2026
Autosomal dominant polycystic kidney disease1Mar 2, 2023
Autosomal dominant severe congenital neutropenia1Oct 23, 2024
Autosomal recessive DOPA responsive dystonia1Nov 30, 2023
Autosomal recessive ataxia, Beauce type3Aug 26, 2024
Autosomal recessive axonal neuropathy with neuromyotonia1Nov 14, 2023
Autosomal recessive bestrophinopathy4Sep 30, 2025
Autosomal recessive cerebellar ataxia2Jun 25, 2025
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 hypophosphatemic bone disease1May 21, 2026
Autosomal recessive inherited pseudoxanthoma elasticum2Dec 7, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2B1Feb 27, 2026
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 162May 4, 2026
Autosomal recessive nonsyndromic hearing loss 1A5May 8, 2026
Autosomal recessive nonsyndromic hearing loss 22Jul 1, 2026
Autosomal recessive nonsyndromic hearing loss 231Sep 3, 2024
Autosomal recessive nonsyndromic hearing loss 31Aug 9, 2024
Autosomal recessive nonsyndromic hearing loss 41Dec 19, 2022
Autosomal recessive nonsyndromic hearing loss 71Apr 1, 2026
Autosomal recessive nonsyndromic hearing loss 791Nov 2, 2023
Autosomal recessive nonsyndromic hearing loss 84Aug 9, 2024
Autosomal recessive nonsyndromic hearing loss 84A1Sep 22, 2025
Autosomal recessive primary microcephaly1Sep 23, 2025
Autosomal recessive spinocerebellar ataxia 161Dec 19, 2023
Autosomal recessive spinocerebellar ataxia 181Feb 16, 2024
Baralle-Macken syndrome1Mar 14, 2025
Bardet-Biedl syndrome2Nov 4, 2024
Bardet-Biedl syndrome 101Dec 5, 2022
Bardet-Biedl syndrome 51Dec 14, 2023
Bardet-Biedl syndrome 92Dec 20, 2022
Bartter disease type 11Jul 12, 2023
Becker muscular dystrophy1Jan 27, 2025
Behavioral variant of frontotemporal dementia1Jan 3, 2023
Benign familial infantile epilepsy1Mar 7, 2025
Benign hereditary chorea1Dec 19, 2025
Bent bone dysplasia1Mar 3, 2022
Bethlem myopathy 1A2Feb 6, 2026
Bietti crystalline corneoretinal dystrophy2Sep 5, 2025
Birt-Hogg-Dube syndrome2Mar 8, 2023
Birt-Hogg-Dube syndrome 11Jul 7, 2025
Blepharophimosis - intellectual disability syndrome, SBBYS type2Feb 28, 2025
Blepharophimosis-impaired intellectual development syndrome1Mar 6, 2025
Bosch-Boonstra-Schaaf optic atrophy syndrome2Jul 1, 2025
Brain abnormalities, neurodegeneration, and dysosteosclerosis1Oct 25, 2022
Brain small vessel disease 1 with or without ocular anomalies2May 15, 2026
Branchiooculofacial syndrome1Oct 6, 2023
Branchiootorenal syndrome 11Feb 10, 2023
Breast-ovarian cancer, familial, susceptibility to, 12Feb 20, 2026
Breast-ovarian cancer, familial, susceptibility to, 51Jan 18, 2024
Brugada syndrome1Aug 26, 2025
Brugada syndrome 11Jul 2, 2024
Brunner syndrome1Apr 4, 2024
Bryant-Li-Bhoj neurodevelopmental syndrome 11Apr 28, 2025
Bryant-Li-Bhoj neurodevelopmental syndrome 21Aug 8, 2025
CBL-related disorder1Dec 6, 2023
CHARGE syndrome13Nov 10, 2025
CTCF-related neurodevelopmental disorder5Jul 18, 2025
Capillary malformation-arteriovenous malformation 12Feb 6, 2025
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Dec 4, 2025
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation1Jun 19, 2026
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Jan 24, 2025
Cardiac valvular defect, developmental1Jul 15, 2025
Carnitine palmitoyl transferase II deficiency, neonatal form1Jul 31, 2024
Cataract 14 multiple types1Apr 16, 2026
Cerebellar ataxia1Feb 2, 2022
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Mar 16, 2023
Cerebellar dysfunction with variable cognitive and behavioral abnormalities2Jul 21, 2025
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 13Aug 27, 2025
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21Dec 2, 2022
Cerebral cavernous malformation1Oct 15, 2024
Cerebral cavernous malformation 11Feb 2, 2022
Cerebro-costo-mandibular syndrome1Jan 24, 2025
Ceroid lipofuscinosis, neuronal, 6A1Apr 30, 2024
Charcot-Marie-Tooth Disease, axonal, type 2GG1Jun 18, 2025
Charcot-Marie-Tooth disease1Nov 30, 2023
Charcot-Marie-Tooth disease X-linked dominant 14Feb 21, 2025
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 2Q1Apr 4, 2025
Charcot-Marie-Tooth disease axonal type 2T2Aug 7, 2024
Charcot-Marie-Tooth disease axonal type 2Z1Jul 21, 2023
Charcot-Marie-Tooth disease dominant intermediate D1Nov 30, 2023
Charcot-Marie-Tooth disease dominant intermediate E1Mar 25, 2025
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 apraxia of speech1Feb 13, 2025
Childhood onset GLUT1 deficiency syndrome 22Aug 22, 2025
Childhood-onset epilepsy syndrome1May 3, 2024
Chorea1Dec 5, 2022
Choroidal dystrophy, central areolar 21Feb 27, 2024
Choroideremia3Jan 17, 2025
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
Clark-Baraitser syndrome1Jul 18, 2025
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome1Sep 25, 2024
Cleidocranial dysostosis1Aug 5, 2024
Cobblestone lissencephaly without muscular or ocular involvement4Jun 26, 2023
Coffin-Siris syndrome1Oct 24, 2024
Coffin-Siris syndrome 13Sep 5, 2024
Coffin-Siris syndrome 61Mar 10, 2026
Coffin-Siris syndrome 82Oct 21, 2025
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Jun 11, 2025
Cognitive impairment with or without cerebellar ataxia2Jun 21, 2024
Cohen syndrome4Feb 19, 2024
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21Feb 25, 2025
Complex cortical dysplasia with other brain malformations 12Mar 3, 2026
Complex cortical dysplasia with other brain malformations 41Sep 2, 2024
Complex cortical dysplasia with other brain malformations 53Jul 4, 2024
Cone dystrophy 31Jan 19, 2026
Cone dystrophy 41Nov 11, 2025
Cone-rod dystrophy2Feb 26, 2024
Cone-rod dystrophy 122Aug 20, 2024
Cone-rod dystrophy 151Jan 23, 2025
Cone-rod dystrophy 181Oct 21, 2024
Cone-rod dystrophy 191Jun 22, 2023
Cone-rod dystrophy 201Jun 3, 2026
Cone-rod dystrophy 37May 5, 2026
Cone-rod dystrophy and hearing loss 11Apr 17, 2023
Congenital absence of salivary gland1Jul 1, 2026
Congenital amegakaryocytic thrombocytopenia 11Aug 22, 2024
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 ophthalmoplegia2Jan 24, 2025
Congenital muscular hypertrophy-cerebral syndrome1Oct 21, 2025
Congenital myasthenic syndrome 4A1Nov 30, 2023
Congenital myopathy 10b, mild variant1Dec 9, 2024
Congenital myopathy 2c, severe infantile, autosomal dominant2May 18, 2026
Congenital myotonia, autosomal dominant form3Jul 18, 2025
Congenital nongoitrous hypothyroidism 61May 3, 2022
Congenital stationary night blindness 2A2Sep 3, 2024
Cornelia de Lange syndrome 31Jul 21, 2023
Cornelia de Lange syndrome 51Aug 5, 2024
Cornelia de Lange syndrome 62Feb 27, 2026
Cortical dysplasia, complex, with other brain malformations 111Sep 4, 2025
Cranioectodermal dysplasia 41Nov 30, 2023
Craniofacial microsomia 21Apr 17, 2024
Craniosynostosis-anal anomalies-porokeratosis syndrome2Oct 8, 2024
Crouzon syndrome1Jun 26, 2025
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
Deficiency of adenosine deaminase 21Sep 24, 2024
Deficiency of alpha-mannosidase1Sep 25, 2024
Deficiency of guanidinoacetate methyltransferase1Mar 5, 2025
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1May 12, 2025
Dent disease type 21Sep 23, 2025
Dentinogenesis imperfecta type 21Nov 24, 2023
Desmin-related myofibrillar myopathy1Nov 5, 2024
Developmental and epileptic encephalopathy1Nov 24, 2021
Developmental and epileptic encephalopathy 1031Jun 28, 2024
Developmental and epileptic encephalopathy 1191Apr 9, 2026
Developmental and epileptic encephalopathy 6B1Jan 20, 2026
Developmental and epileptic encephalopathy 922Aug 16, 2023
Developmental and epileptic encephalopathy 941May 2, 2025
Developmental and epileptic encephalopathy, 131Jan 19, 2024
Developmental and epileptic encephalopathy, 171Jun 12, 2024
Developmental and epileptic encephalopathy, 22Feb 13, 2025
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, 427Jun 19, 2026
Developmental and epileptic encephalopathy, 621Mar 22, 2024
Developmental and epileptic encephalopathy, 641Jul 21, 2025
Developmental and epileptic encephalopathy, 651Mar 2, 2026
Developmental and epileptic encephalopathy, 661Mar 26, 2024
Developmental and epileptic encephalopathy, 671Jul 31, 2023
Developmental and epileptic encephalopathy, 72Aug 5, 2024
Developmental and epileptic encephalopathy, 81Jan 30, 2026
Developmental and epileptic encephalopathy, 91Mar 4, 2026
Developmental delay and seizures with or without movement abnormalities1Nov 25, 2025
Developmental delay with or without epilepsy1Mar 11, 2025
Developmental delay with or without intellectual impairment or behavioral abnormalities4Sep 15, 2025
Developmental delay with variable intellectual impairment and behavioral abnormalities1Nov 15, 2023
Developmental delay with variable neurologic and brain abnormalities1Nov 13, 2024
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders1Jan 20, 2026
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 seizures4Apr 17, 2026
Developmental malformations-deafness-dystonia syndrome1Dec 7, 2022
Diamond-Blackfan anemia 11Sep 25, 2024
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 1A1Feb 9, 2026
Dilated cardiomyopathy 1G2Jun 19, 2026
Dilated cardiomyopathy 1NN1Nov 30, 2023
Distal arthrogryposis type 2B11Dec 7, 2022
Distal myopathy with anterior tibial onset1Jul 28, 2025
Distal myopathy, Tateyama type1Aug 27, 2024
Dominant hereditary optic atrophy1Sep 26, 2023
Duchenne muscular dystrophy3Apr 22, 2026
Dyskinesia with orofacial involvement, autosomal dominant1Dec 30, 2022
Dystonia 121Aug 25, 2022
Dystonic disorder1Jul 30, 2021
Early-onset autosomal dominant Alzheimer disease2Oct 8, 2025
Early-onset myopathy with fatal cardiomyopathy2Dec 7, 2022
Ectodermal dysplasia 13, hair/tooth type2Nov 30, 2023
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis2Feb 27, 2026
Ectopia lentis 2, isolated, autosomal recessive3Apr 20, 2026
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
Eichsfeld type congenital muscular dystrophy2Jan 13, 2025
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Feb 20, 2025
Encephalopathy due to GLUT1 deficiency2Mar 19, 2024
Endometrial carcinoma2Aug 7, 2024
Epidermolysis bullosa simplex1Jun 3, 2026
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1Jun 6, 2024
Epilepsy with myoclonic atonic seizures1Dec 12, 2023
Epilepsy, early-onset, vitamin B6-dependent2Mar 22, 2023
Epilepsy, familial temporal lobe, 12Apr 4, 2022
Epilepsy, idiopathic generalized, susceptibility to, 171Sep 18, 2025
Episodic ataxia type 11Dec 5, 2024
Episodic ataxia type 25Mar 12, 2025
Exudative vitreoretinopathy 42Jan 15, 2026
Exudative vitreoretinopathy 51Feb 16, 2024
FOXG1 disorder1Aug 1, 2025
Fabry disease1Feb 13, 2023
Familial Mediterranean fever1Dec 8, 2022
Familial adenomatous polyposis 11Oct 20, 2022
Familial amyloid nephropathy with urticaria AND deafness4Sep 25, 2024
Familial cancer of breast33May 29, 2026
Familial cold autoinflammatory syndrome 11Sep 15, 2025
Familial cold autoinflammatory syndrome 21Dec 7, 2022
Familial episodic pain syndrome with predominantly lower limb involvement1Jul 1, 2026
Familial hyperthyroidism due to mutations in TSH receptor1Nov 30, 2023
Familial hypocalciuric hypercalcemia 11May 12, 2025
Familial hypokalemia-hypomagnesemia1Dec 20, 2022
Familial isolated dilated cardiomyopathy1Apr 24, 2026
Familial juvenile hyperuricemic nephropathy type 11Feb 29, 2024
Familial melanoma1Jan 22, 2024
Familial multiple meningioma1May 14, 2024
Familial multiple polyposis syndrome1Sep 15, 2025
Fanconi anemia complementation group A3Sep 25, 2024
Fanconi anemia complementation group D21Sep 25, 2024
Fanconi anemia complementation group E2Jun 19, 2026
Faundes-Banka syndrome2Jul 31, 2025
Feingold syndrome type 12Aug 25, 2025
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies1Jul 11, 2023
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Dec 16, 2025
Fliedner-Zweier syndrome1Jun 6, 2024
Floating-Harbor syndrome1Dec 7, 2022
Focal segmental glomerulosclerosis 71Aug 5, 2024
Foveal hypoplasia 11Dec 1, 2022
Frontotemporal dementia3Apr 22, 2025
Frontotemporal dementia and/or amyotrophic lateral sclerosis 44Feb 15, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61May 29, 2024
Fumarase deficiency1Dec 8, 2022
GNE myopathy1Jul 18, 2025
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions4Jun 30, 2026
Gabriele de Vries syndrome1Jul 18, 2025
Generalized epilepsy with febrile seizures plus, type 22Feb 27, 2026
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
Glycine encephalopathy 11Oct 30, 2024
Glycogen storage disease IXa12Oct 25, 2023
Glycogen storage disease IXb1Apr 7, 2026
Glycogen storage disease, type II3Jan 24, 2025
Gnathodiaphyseal dysplasia1Dec 7, 2022
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy1Dec 16, 2024
Gorlin syndrome2Nov 4, 2024
Granulomatous disease, chronic, X-linked1Sep 25, 2024
Greig cephalopolysyndactyly syndrome1Mar 25, 2026
Growth delay due to insulin-like growth factor I resistance2Dec 3, 2025
Hearing impairment1Jul 30, 2021
Hearing loss, autosomal dominant 801Dec 22, 2022
Hearing loss, autosomal dominant 821Oct 6, 2025
Hearing loss, autosomal recessive 1061Oct 23, 2024
Hematuria, benign familial, 12May 8, 2026
Hereditary angioedema type 31Feb 6, 2026
Hereditary ataxia2Dec 5, 2022
Hereditary breast ovarian cancer syndrome10Jul 3, 2026
Hereditary cavernous hemangioma of brain1Oct 24, 2023
Hereditary leiomyomatosis and renal cell cancer4Feb 11, 2026
Hereditary nonpolyposis colon cancer5May 8, 2026
Hereditary pheochromocytoma and paraganglioma1Aug 1, 2024
Hereditary sensory and autonomic neuropathy type 71Dec 8, 2022
Hereditary spastic paraplegia2Apr 27, 2026
Hereditary spastic paraplegia 102Jun 16, 2025
Hereditary spastic paraplegia 261Jan 7, 2025
Hereditary spastic paraplegia 301Nov 19, 2024
Hereditary spastic paraplegia 392Nov 30, 2023
Hereditary spastic paraplegia 3A2Jan 30, 2025
Hereditary spastic paraplegia 48Dec 12, 2025
Hereditary spastic paraplegia 461Dec 19, 2025
Hereditary spastic paraplegia 482Jun 24, 2024
Hereditary spastic paraplegia 502Dec 8, 2022
Hereditary spastic paraplegia 561Jun 4, 2025
Hereditary spastic paraplegia 571Mar 26, 2025
Hereditary spastic paraplegia 5A2Apr 11, 2024
Hereditary spastic paraplegia 77Jul 15, 2025
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
Heterotaxy, visceral, 7, autosomal1Feb 27, 2026
Histiocytic medullary reticulosis1Sep 25, 2024
Holt-Oram syndrome1Jun 19, 2026
Houge-Janssens syndrome 11Feb 17, 2026
Hyaline fibromatosis syndrome1Jul 25, 2024
Hydrolethalus syndrome 11Aug 4, 2025
Hypercalcemia, infantile, 11Jan 10, 2025
Hypercholesterolemia, autosomal dominant, type B3Dec 7, 2022
Hypercholesterolemia, familial, 15Sep 15, 2025
Hyperinsulinemic hypoglycemia, familial, 11Dec 7, 2022
Hyperkalemic periodic paralysis1Dec 8, 2022
Hypertriglyceridemia 11Apr 3, 2024
Hypertrophic cardiomyopathy 14May 29, 2026
Hypertrophic cardiomyopathy 101May 22, 2026
Hypertrophic cardiomyopathy 111Mar 9, 2026
Hypertrophic cardiomyopathy 262Aug 11, 2025
Hypertrophic cardiomyopathy 43Mar 25, 2025
Hypogonadotropic hypogonadism 5 with or without anosmia1Dec 8, 2022
Hypogonadotropic hypogonadism 7 with or without anosmia3Jun 4, 2025
Hypoinsulinemic hypoglycemia and body hemihypertrophy1Feb 23, 2024
Hypomyelinating leukodystrophy 21Jan 11, 2024
Hypomyelinating leukodystrophy 62Aug 2, 2024
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 15Apr 27, 2026
Imagawa-Matsumoto syndrome1May 17, 2024
Imerslund-Grasbeck syndrome type 21Mar 25, 2024
Immunodeficiency 11b with atopic dermatitis1Sep 25, 2024
Immunodeficiency 91 and hyperinflammation1Sep 24, 2024
Immunodeficiency, common variable, 101Sep 25, 2024
Immunodeficiency, common variable, 121Dec 18, 2024
Immunodeficiency, common variable, 22Dec 7, 2022
Inborn glycerol kinase deficiency1Jun 18, 2025
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1Apr 9, 2024
Infantile convulsions and choreoathetosis1Jan 21, 2026
Inherited acute myeloid leukemia1Jul 14, 2023
Intellectual developmental disorder 611Feb 13, 2025
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 autism and speech delay1Jun 26, 2024
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Oct 1, 2025
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 microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism2Mar 30, 2026
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia2Jul 1, 2026
Intellectual developmental disorder with or without peripheral neuropathy1May 11, 2023
Intellectual developmental disorder with seizures and language delay1Oct 18, 2024
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 dominant 701Oct 29, 2024
Intellectual developmental disorder, autosomal recessive 671Dec 7, 2022
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly1Aug 12, 2025
Intellectual disability, X-linked 1022Dec 8, 2022
Intellectual disability, X-linked 1041Dec 7, 2022
Intellectual disability, X-linked 213Jul 18, 2025
Intellectual disability, X-linked 901Jan 23, 2025
Intellectual disability, X-linked 931Oct 14, 2024
Intellectual disability, X-linked syndromic, Turner type1Dec 5, 2023
Intellectual disability, X-linked, syndromic, Houge type2Sep 25, 2024
Intellectual disability, autosomal dominant 11May 12, 2025
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 291Aug 21, 2024
Intellectual disability, autosomal dominant 381Dec 5, 2022
Intellectual disability, autosomal dominant 393Apr 16, 2026
Intellectual disability, autosomal dominant 401Mar 8, 2023
Intellectual disability, autosomal dominant 411Dec 7, 2022
Intellectual disability, autosomal dominant 432Apr 16, 2026
Intellectual disability, autosomal dominant 452Apr 18, 2024
Intellectual disability, autosomal dominant 471Nov 30, 2023
Intellectual disability, autosomal dominant 481Sep 15, 2025
Intellectual disability, autosomal dominant 51Feb 27, 2026
Intellectual disability, autosomal dominant 501Jun 2, 2023
Intellectual disability, autosomal dominant 511Jan 29, 2024
Intellectual disability, autosomal dominant 521Aug 15, 2024
Intellectual disability, autosomal dominant 55, with seizures2Aug 25, 2023
Intellectual disability, autosomal dominant 563Jun 5, 2025
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-microcephaly-strabismus-behavioral abnormalities syndrome2Jul 11, 2025
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Aug 23, 2022
Intellectual disability-strabismus syndrome1Feb 18, 2025
Iodotyrosyl coupling defect3Dec 7, 2022
Irido-corneo-trabecular dysgenesis1Dec 1, 2022
Isolated asymptomatic elevation of creatine phosphokinase1May 26, 2026
Isolated macular dystrophy1Aug 19, 2024
Isolated microphthalmia 81Dec 2, 2022
Joubert syndrome 11Sep 17, 2024
Joubert syndrome 171Jul 6, 2023
Joubert syndrome 301Oct 22, 2024
Joubert syndrome 52Apr 16, 2025
Joubert syndrome 91Feb 18, 2026
Junctional epidermolysis bullosa with pyloric atresia1Nov 18, 2024
Juvenile retinoschisis6Nov 6, 2025
KBG syndrome3Jul 19, 2024
Kabuki syndrome 16Aug 21, 2025
Kabuki syndrome 22Feb 4, 2026
Karayol-Borroto-Haghshenas neurodevelopmental syndrome3Jun 16, 2025
Kleefstra syndrome2Nov 13, 2024
Kleefstra syndrome 13Jun 11, 2026
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome2Feb 27, 2026
Knobloch syndrome1Jun 5, 2023
Knobloch syndrome 11Dec 3, 2024
Kostmann syndrome1Sep 24, 2024
Kury-Isidor syndrome3Oct 24, 2025
L-2-hydroxyglutaric aciduria1Sep 15, 2025
LEOPARD syndrome 11Aug 20, 2025
LEOPARD syndrome 31Feb 27, 2026
Lamb-Shaffer syndrome2Jan 27, 2025
Landau-Kleffner syndrome1Dec 12, 2023
Leber congenital amaurosis2Jul 12, 2023
Leber congenital amaurosis 101Mar 17, 2023
Leber congenital amaurosis 133May 23, 2025
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
Leigh syndrome, mitochondrial1Sep 15, 2025
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 cysts3Dec 11, 2025
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 syndrome2Oct 18, 2024
Liang-Wang syndrome1Dec 19, 2023
Lipid proteinosis1Dec 7, 2022
Lissencephaly due to TUBA1A mutation5Apr 16, 2026
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 12May 15, 2026
Long QT syndrome 24Nov 15, 2024
Lowe syndrome1Apr 5, 2024
Lung cancer1Nov 20, 2023
Lynch syndrome 41Sep 22, 2021
MELAS syndrome1Aug 5, 2024
MIRAGE syndrome1Mar 25, 2025
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin1Sep 3, 2024
Macrocephaly-autism syndrome3Jul 5, 2024
Macrocephaly-developmental delay syndrome2Nov 30, 2023
Macular dystrophy with central cone involvement1Jul 22, 2025
Mandibulofacial dysostosis-microcephaly syndrome1Jan 29, 2024
Marbach-Schaaf neurodevelopmental syndrome1Dec 7, 2022
Marfan syndrome6Dec 19, 2025
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 12Apr 24, 2025
Megalencephaly-capillary malformation-polymicrogyria syndrome2Aug 30, 2024
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Jun 26, 2023
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2Apr 25, 2025
Meier-Gorlin syndrome 12Mar 17, 2026
Meningioma1Jan 25, 2023
Menke-Hennekam syndrome 12Jun 24, 2026
Merosin deficient congenital muscular dystrophy1Dec 22, 2023
Metachromatic leukodystrophy4Apr 20, 2026
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 disability2Jun 29, 2026
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
Microphthalmia with brain and digit anomalies1Apr 9, 2026
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 I deficiency, nuclear type 171Dec 12, 2023
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy1Feb 14, 2024
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2Sep 26, 2024
Miyoshi muscular dystrophy 32Dec 7, 2022
Mosaic neurofibromatosis type 11Dec 1, 2025
Mucocutaneous ulceration, chronic2Jul 24, 2025
Mucopolysaccharidosis, MPS-III-A3Feb 9, 2024
Mucopolysaccharidosis, MPS-III-B2Aug 5, 2024
Mucopolysaccharidosis, MPS-IV-A1Jan 20, 2026
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 12Apr 29, 2026
Muscle AMP deaminase deficiency3Dec 7, 2022
Muscular dystrophy, adult-onset, with leukoencephalopathy1Jan 10, 2024
Muscular dystrophy, limb-girdle, autosomal dominant 41Jan 20, 2026
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11Dec 12, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A32Oct 20, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 114Feb 27, 2026
Myasthenic syndrome, congenital, 222Feb 27, 2026
Myeloperoxidase deficiency4Sep 25, 2024
Myoclonic dystonia 114Dec 6, 2024
Myoclonic epilepsy of Lafora 11May 5, 2026
Myofibrillar myopathy 51Jun 2, 2022
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 11Jan 21, 2026
Nail-patella syndrome1Feb 19, 2025
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome2Feb 6, 2025
Nephroblastoma1Mar 26, 2024
Nephrogenic diabetes insipidus1Aug 15, 2022
Nephronophthisis 151Nov 26, 2025
Nephrotic syndrome, type 32Nov 16, 2022
Neurodevelopmental disorder with absent language and variable seizures1Feb 27, 2026
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities2Jun 30, 2026
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies7Nov 30, 2023
Neurodevelopmental disorder with hearing loss and spasticity2May 12, 2023
Neurodevelopmental disorder with hypotonia and brain abnormalities1Aug 4, 2025
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language2Apr 2, 2026
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures1Sep 4, 2025
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 hypotonia, stereotypic hand movements, and impaired language1Jan 20, 2026
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies2Feb 5, 2026
Neurodevelopmental disorder with involuntary movements1Mar 21, 2024
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures2Jan 2, 2025
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities1Dec 23, 2025
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 or without hyperkinetic movements and seizures, autosomal dominant2May 22, 2025
Neurodevelopmental disorder with poor growth and skeletal anomalies1Jun 30, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures2Feb 21, 2025
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 176Apr 22, 2026
Neurofibromatosis-Noonan syndrome1Apr 29, 2025
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 11Mar 19, 2024
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 24Sep 15, 2023
Neuronopathy, distal hereditary motor, autosomal dominant 112Jun 24, 2026
Neuroocular syndrome1Nov 18, 2022
Neurooculocardiogenitourinary syndrome1Dec 20, 2022
Neuropathy, hereditary motor and sensory, type 6B1Jul 30, 2024
Neutropenia, severe congenital, 1, autosomal dominant4Nov 14, 2024
Neutropenia, severe congenital, 9, autosomal dominant2Sep 25, 2024
Nicolaides-Baraitser syndrome1Jun 20, 2022
Niemann-Pick disease, type C12Jul 18, 2025
Non-syndromic X-linked intellectual disability3Jul 5, 2024
Nonsyndromic congenital nail disorder 41Nov 30, 2023
Noonan syndrome1Dec 22, 2025
Noonan syndrome 16Aug 27, 2024
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 syndrome2Sep 15, 2025
Oculocutaneous albinism1Sep 4, 2024
Oculocutaneous albinism type 1A2Apr 16, 2024
Oculocutaneous albinism type 61Mar 8, 2024
Oculopharyngeal muscular dystrophy 11Sep 20, 2024
Odonto-onycho-dermal dysplasia1Dec 7, 2022
Okur-Chung neurodevelopmental syndrome2Aug 26, 2024
Optic atrophy 31Feb 7, 2023
Optic atrophy 91Apr 23, 2026
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Dec 5, 2022
Ornithine aminotransferase deficiency1Aug 29, 2023
Osteodysplastic primordial dwarfism, type 11Nov 19, 2024
Osteogenesis imperfecta1Feb 21, 2023
Osteogenesis imperfecta type I3Jul 15, 2024
Osteogenesis imperfecta, perinatal lethal1Apr 2, 2025
Ovarian cancer5Oct 15, 2024
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Dec 7, 2022
POLR-related leukodystrophy1Mar 3, 2022
PTEN hamartoma tumor syndrome1Jun 30, 2022
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Aug 7, 2023
Papillary carcinoma of the corpus uteri3Nov 3, 2025
Papillary tumor of the pineal region1Feb 1, 2024
Paramyotonia congenita of Von Eulenburg1Dec 20, 2024
Parenti-mignot neurodevelopmental syndrome2Feb 27, 2026
Partial androgen insensitivity syndrome1Oct 14, 2025
Patterned dystrophy of the retinal pigment epithelium1Oct 25, 2021
Patterned macular dystrophy 11Dec 1, 2025
Pelizaeus-Merzbacher disease1Jan 17, 2023
Periventricular nodular heterotopia 91Apr 22, 2022
Perlman syndrome1Jan 18, 2023
Pervasive developmental disorder5Jun 27, 2024
Phelan-McDermid syndrome5Feb 6, 2026
Piebaldism1Mar 8, 2023
Pigmentary pallidal degeneration1Nov 14, 2023
Pitt-Hopkins syndrome3Dec 12, 2023
Poirier-Bienvenu neurodevelopmental syndrome2Jul 29, 2024
Polycystic kidney disease 25Sep 15, 2025
Polycystic kidney disease 81Apr 8, 2025
Polycystic kidney disease 9, susceptibility to1Jun 19, 2026
Polycystic kidney disease, adult type8Nov 20, 2025
Polydactyly of a triphalangeal thumb1Sep 24, 2024
Polydactyly, postaxial, type A11May 23, 2024
Polydactyly, postaxial, type A81Feb 10, 2023
Polymicrogyria1Apr 16, 2026
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2Nov 17, 2022
Polyvalvular heart disease syndrome1Mar 29, 2022
Pontocerebellar hypoplasia type 41Jun 11, 2026
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 external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31Sep 15, 2025
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21Sep 26, 2024
Progressive retinal dystrophy due to retinol transport defect2Nov 23, 2023
Proximal 16p11.2 microdeletion syndrome1Jun 24, 2026
Proximal symphalangism 1A1Nov 6, 2023
Pyridoxine-dependent epilepsy1Dec 7, 2022
Pyruvate dehydrogenase E1-alpha deficiency1Feb 27, 2026
Pyruvate kinase deficiency of red cells1Mar 25, 2026
Radio-Tartaglia syndrome5Jul 22, 2025
Rare epilepsy2Oct 28, 2025
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 34Jun 19, 2026
Retinal dystrophy with or without macular staphyloma1Jul 4, 2024
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1Apr 29, 2026
Retinitis pigmentosa24Jun 5, 2024
Retinitis pigmentosa 18Apr 29, 2026
Retinitis pigmentosa 113Oct 2, 2025
Retinitis pigmentosa 121Feb 27, 2023
Retinitis pigmentosa 145Sep 23, 2025
Retinitis pigmentosa 21Jul 4, 2025
Retinitis pigmentosa 203May 23, 2024
Retinitis pigmentosa 255Aug 21, 2024
Retinitis pigmentosa 263Jun 2, 2023
Retinitis pigmentosa 316Mar 11, 2026
Retinitis pigmentosa 331Feb 14, 2023
Retinitis pigmentosa 374Jan 14, 2026
Retinitis pigmentosa 398Dec 9, 2025
Retinitis pigmentosa 46Jul 6, 2026
Retinitis pigmentosa 405Apr 1, 2026
Retinitis pigmentosa 421Jul 29, 2024
Retinitis pigmentosa 451May 6, 2025
Retinitis pigmentosa 491May 11, 2023
Retinitis pigmentosa 562Dec 11, 2024
Retinitis pigmentosa 621Jan 12, 2023
Retinitis pigmentosa 72Jul 10, 2025
Retinitis pigmentosa 881May 3, 2022
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1Apr 4, 2023
Retinoblastoma4Mar 10, 2025
Rett syndrome5May 28, 2025
Right atrial isomerism1Nov 30, 2023
Roifman syndrome3Apr 17, 2026
Rubinstein-Taybi syndrome1Jan 4, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations2Aug 5, 2024
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency4Jul 28, 2025
Russell-Silver syndrome1Oct 31, 2024
SIN3A-related intellectual disability syndrome due to a point mutation1Feb 2, 2022
SLC35A1-congenital disorder of glycosylation1Sep 24, 2024
SLC35A2-congenital disorder of glycosylation1Aug 16, 2023
SLC39A8-CDG1Feb 27, 2026
Sandhoff disease1Oct 29, 2024
Schwannomatosis2Mar 20, 2026
Scimitar syndrome2Feb 2, 2022
Seckel syndrome 102Jan 24, 2025
Seizure1Jul 30, 2021
Seizures, benign familial neonatal, 11Jan 12, 2024
Sensorineural hearing loss disorder2Apr 20, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1Mar 25, 2025
Severe early-childhood-onset retinal dystrophy12Dec 8, 2025
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1Sep 15, 2025
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Dec 11, 2023
Severe intellectual disability-progressive spastic diplegia syndrome5Mar 10, 2026
Severe myoclonic epilepsy in infancy5Dec 21, 2025
Short stature with nonspecific skeletal abnormalities1Nov 21, 2024
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1May 7, 2025
Short stature-advanced bone age-early-onset osteoarthritis syndrome1Dec 5, 2023
Short stature-optic atrophy-Pelger-Huët 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-Lemli-Opitz syndrome1Oct 24, 2024
Smith-Magenis syndrome2Dec 8, 2022
Snijders Blok-Campeau syndrome4Mar 20, 2025
Sotos syndrome1Sep 22, 2021
Spastic ataxia1Feb 2, 2022
Spastic ataxia 11, autosomal dominant1Dec 16, 2025
Spastic ataxia 21Jul 16, 2024
Spastic paraplegia 18a, autosomal dominant1Feb 26, 2026
Spastic paraplegia 30A, autosomal dominant2May 7, 2026
Spastic paraplegia 79A, autosomal dominant, with ataxia5May 14, 2025
Spastic paraplegia 88, autosomal dominant1Feb 14, 2024
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia1Nov 7, 2023
Spastic paraplegia, mitochondrial1Apr 20, 2026
Spastic tetraparesis1Jul 30, 2021
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome1Aug 11, 2023
Spermatogenic failure 361Sep 17, 2024
Spinocerebellar ataxia 471Feb 27, 2026
Spinocerebellar ataxia 481Mar 21, 2024
Spinocerebellar ataxia type 143Jul 10, 2025
Spinocerebellar ataxia type 19/222Dec 12, 2023
Spinocerebellar ataxia type 421Dec 21, 2023
Spinocerebellar ataxia type 51Aug 20, 2024
Spinocerebellar ataxia type 62Dec 3, 2024
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21Apr 27, 2023
Split hand-foot malformation 41Nov 4, 2025
Spondyloepiphyseal dysplasia, Kimberley type1May 19, 2026
Spongy degeneration of central nervous system2Apr 5, 2023
Stankiewicz-Isidor syndrome1Jul 5, 2024
Stargardt disease6Jan 11, 2023
Stickler syndrome type 17Apr 17, 2026
Supravalvar aortic stenosis1Nov 15, 2023
Syndromic X-linked intellectual disability Najm type1Dec 2, 2021
Syndromic X-linked intellectual disability Raymond type2Oct 21, 2024
Syndromic microphthalmia type 51Mar 17, 2023
Tatton-Brown-Rahman overgrowth syndrome2Dec 23, 2025
Tay-Sachs disease1Nov 17, 2022
Telangiectasia, hereditary hemorrhagic, type 11Jun 16, 2025
Telangiectasia, hereditary hemorrhagic, type 21Apr 2, 2026
Thanatophoric dysplasia type 12May 12, 2026
Thomsen and Becker disease1Feb 15, 2024
Thrombocytopenia 11Nov 15, 2022
Treacher Collins syndrome1Nov 11, 2021
Treacher Collins syndrome 11May 5, 2025
Trichorhinophalangeal dysplasia type I1Apr 4, 2022
Trichorhinophalangeal syndrome, type III1Apr 4, 2022
Trisomy 12p1Dec 12, 2023
Tuberous sclerosis 23Sep 19, 2025
Tuberous sclerosis syndrome12Feb 11, 2026
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
Unverricht-Lundborg syndrome1Nov 19, 2024
Upshaw-Schulman syndrome2Dec 20, 2022
Usher syndrome3Aug 1, 2024
Usher syndrome type 113Jun 12, 2025
Usher syndrome type 1C1Aug 29, 2024
Usher syndrome type 1D4Apr 21, 2023
Usher syndrome type 1F1Apr 13, 2026
Usher syndrome type 1G1May 16, 2025
Usher syndrome type 21Sep 22, 2021
Usher syndrome type 2A11Jan 10, 2025
Usher syndrome type 2C2Jan 16, 2023
Usher syndrome type 2D1May 3, 2023
Usher syndrome type 3A1Jan 30, 2023
Variegate porphyria1May 5, 2023
Variegate porphyria, childhood-onset1Feb 27, 2026
Vertebral, cardiac, renal, and limb defects syndrome 22Mar 24, 2025
Ververi-Brady syndrome1Aug 23, 2022
Ververi-Brady syndrome 11May 5, 2026
Visceral myopathy 21Apr 16, 2026
Vissers-Bodmer syndrome1Feb 27, 2026
Visual impairment1Jul 30, 2021
Vitelliform macular dystrophy 24Aug 17, 2023
Vitelliform macular dystrophy 32May 22, 2025
Wagner disease1Jan 7, 2026
Warburg micro syndrome 41Jun 30, 2025
Warsaw breakage syndrome1Feb 15, 2023
Wieacker-Wolff syndrome2May 9, 2025
Wieacker-Wolff syndrome, female-restricted2May 15, 2025
Wiedemann-Steiner syndrome4Jan 29, 2025
Williams syndrome1Mar 6, 2020
Wilson disease4Feb 6, 2025
Woolly hair-skin fragility syndrome1Jan 10, 2023
X-linked Alport syndrome6Apr 29, 2025
X-linked Opitz G/BBB syndrome2Jan 20, 2026
X-linked agammaglobulinemia2Sep 25, 2024
X-linked chondrodysplasia punctata 11Nov 30, 2023
X-linked cone-rod dystrophy 12May 22, 2025
X-linked cone-rod dystrophy 31Mar 17, 2023
X-linked hydrocephalus syndrome4Feb 27, 2026
X-linked ichthyosis with steryl-sulfatase deficiency1Feb 22, 2024
X-linked intellectual disability, Cantagrel type2Nov 21, 2024
X-linked intellectual disability-psychosis-macroorchidism syndrome1Jun 24, 2026
X-linked severe combined immunodeficiency1Sep 25, 2024
XK-related neurodegenerative disease1Sep 1, 2025
Xeroderma pigmentosum, group D1Jun 25, 2024
ZSCAN10 Deficiency2Apr 20, 2022
not provided2328Sep 15, 2021