U.S. flag

An official website of the United States government

Clinical Genetics Laboratory (Skane University Hospital Lund), Clinical_Genetics

General information

Clinical Genetics Laboratory, Clinical_Genetics
Skane University Hospital Lund
Lund
Skane Lan
Sweden

Organization ID: 507353

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 3499

Gene

GeneSubmissionsLast Updated
AAAS2Nov 29, 2024
AAGAB1Aug 15, 2024
AARS12Aug 15, 2024
ABCA32Mar 19, 2025
ABCA42Aug 15, 2024
ABCB111Aug 15, 2024
ABCC21Aug 15, 2024
ABCC68Aug 15, 2024
ABCC93Aug 15, 2024
ABCD12Aug 15, 2024
ABL12Aug 15, 2024
ACADM1Aug 15, 2024
ACADS1Aug 15, 2024
ACADVL3Aug 15, 2024
ACAN3Aug 15, 2024
ACAT11Aug 15, 2024
ACSL42Aug 15, 2024
ACTA11Mar 13, 2025
ACTA21Aug 15, 2024
ACTA2-AS11Aug 15, 2024
ACTB2Aug 15, 2024
ACTC12Aug 15, 2024
ACTG21Mar 15, 2025
ACTL6B1Aug 15, 2024
ACTN23Aug 15, 2024
ACVR12Aug 15, 2024
ACVRL110Mar 13, 2025
ADA21Aug 15, 2024
ADAM221Aug 15, 2024
ADAMTS101Aug 15, 2024
ADAMTS181Jul 19, 2024
ADAMTS21Aug 15, 2024
ADAMTSL43Aug 15, 2024
ADAMTSL4-AS21Aug 15, 2024
ADCY61Aug 15, 2024
ADGRG11Aug 15, 2024
ADGRV13Aug 15, 2024
ADNP5Aug 15, 2024
ADNP-AS11Aug 15, 2024
AFF21Aug 15, 2024
AFF31Aug 15, 2024
AFF41Aug 15, 2024
AGL2Aug 15, 2024
AGRN2Aug 15, 2024
AHDC12Aug 15, 2024
AIMP11Aug 15, 2024
AIPL11Aug 15, 2024
AIRE1Aug 15, 2024
AKT32Aug 15, 2024
ALDH4A11Aug 15, 2024
ALDH7A12Aug 15, 2024
ALDOA1Aug 15, 2024
ALDOB1Aug 15, 2024
ALG131Aug 15, 2024
ALK1Aug 15, 2024
ALMS12Aug 15, 2024
ALOX12B3Aug 15, 2024
ALOXE32Aug 15, 2024
ALPK33Mar 13, 2025
ALPL6Mar 28, 2025
AMD11Apr 25, 2024
AMER11Aug 15, 2024
AMMECR11Mar 13, 2025
ANK11Mar 13, 2025
ANK27Aug 15, 2024
ANKRD118Aug 15, 2024
ANKRD261Aug 15, 2024
ANKS61Aug 15, 2024
ANO51Aug 15, 2024
ANOS11Aug 15, 2024
AOPEP1Aug 15, 2024
AP1G11Aug 15, 2024
AP2S11Oct 23, 2024
AP4S11Aug 15, 2024
AP5Z12Aug 15, 2024
APC20Mar 31, 2025
APC21Aug 15, 2024
APOA51Aug 15, 2024
APOB2Aug 15, 2024
APOE1Aug 15, 2024
APP1Aug 15, 2024
AR6Mar 16, 2025
ARFGEF11Aug 15, 2024
ARHGAP291Aug 15, 2024
ARHGEF101Aug 15, 2024
ARHGEF181Aug 15, 2024
ARID1A2Aug 15, 2024
ARID1B5Mar 16, 2025
ARID21Aug 15, 2024
ARL13B1Aug 15, 2024
ARSA4Mar 18, 2025
ARX2Aug 15, 2024
ASH1L1Aug 15, 2024
ASIC4-AS11Aug 15, 2024
ASL2Aug 15, 2024
ASPH1Aug 15, 2024
ASPM1Aug 15, 2024
ASXL13Aug 15, 2024
ASXL33Aug 15, 2024
ATAD3A2Aug 15, 2024
ATM34Aug 15, 2024
ATP1A13Mar 21, 2025
ATP1A1-AS12Mar 21, 2025
ATP1A23Aug 15, 2024
ATP1A32Aug 15, 2024
ATP2A14Aug 15, 2024
ATP2B11Aug 15, 2024
ATP2B31Aug 15, 2024
ATP6AP11Aug 15, 2024
ATP6AP21Aug 15, 2024
ATP6V0A21Aug 15, 2024
ATP6V1A1Mar 14, 2025
ATP6V1B21Aug 15, 2024
ATP6V1E11Aug 15, 2024
ATP7A1Aug 15, 2024
ATP7B1Aug 15, 2024
ATR1Aug 15, 2024
ATRX5Aug 15, 2024
ATXN72Aug 15, 2024
AUTS21Aug 15, 2024
AVIL1Aug 15, 2024
AVPR22Mar 21, 2025
AXIN11Aug 15, 2024
B4GALNT11Mar 17, 2025
BAG35Aug 15, 2024
BAP15Aug 15, 2024
BARD16Aug 15, 2024
BBS93Aug 15, 2024
BCHE2Aug 15, 2024
BCL2L2-PABPN11Aug 15, 2024
BCORL12Aug 15, 2024
BEAN11Aug 15, 2024
BGN3Aug 15, 2024
BICD21Aug 15, 2024
BICRA1Aug 15, 2024
BIVM-ERCC51Aug 15, 2024
BLTP12Aug 15, 2024
BMP21Aug 15, 2024
BMP41Aug 15, 2024
BMPR1A3Aug 15, 2024
BMPR22Aug 15, 2024
BRAF3Aug 15, 2024
BRAT11Aug 15, 2024
BRCA1110Aug 15, 2024
BRCA2122Mar 13, 2025
BRIP18Aug 15, 2024
BRPF11Aug 15, 2024
BRWD32Aug 15, 2024
BSCL22Aug 15, 2024
BTK1Aug 15, 2024
C10orf1051Aug 15, 2024
C11orf6516Aug 15, 2024
C12orf572Mar 15, 2025
C19orf121Aug 15, 2024
C1R1Aug 15, 2024
C21Aug 15, 2024
C71Aug 15, 2024
C92Aug 15, 2024
CABP21Aug 15, 2024
CABP41Mar 13, 2025
CACNA1A4Aug 15, 2024
CACNA1C8Aug 15, 2024
CACNA1C-AS11Aug 15, 2024
CACNA1D3Aug 15, 2024
CACNA1E1Aug 15, 2024
CACNA1G1Aug 15, 2024
CACNA1H2Aug 15, 2024
CACNA1I1Aug 15, 2024
CACNA1S1Aug 15, 2024
CACNB22Aug 15, 2024
CACNB42Aug 15, 2024
CADM31Aug 15, 2024
CADM3-AS11Aug 15, 2024
CALR31Aug 15, 2024
CAMK2G1Aug 15, 2024
CAMTA12Mar 11, 2025
CAPN11Aug 15, 2024
CAPN35Mar 11, 2025
CASD12Aug 15, 2024
CASK1Aug 15, 2024
CASK-AS11Aug 15, 2024
CASR6Mar 18, 2025
CAV31Aug 15, 2024
CBL3Aug 15, 2024
CBS1Aug 15, 2024
CC2D2A2Aug 15, 2024
CCDC391Aug 15, 2024
CCDC402Aug 15, 2024
CCDC85C1Aug 15, 2024
CCDC88C1Aug 15, 2024
CCDST1Aug 15, 2024
CCM21Aug 15, 2024
CCND21Aug 15, 2024
CCNH2Aug 15, 2024
CCNK2Aug 15, 2024
CCNO1Aug 15, 2024
CD365Mar 12, 2025
CDH16Mar 19, 2025
CDH22Aug 15, 2024
CDH2311Aug 15, 2024
CDK133Mar 7, 2025
CDK191Apr 25, 2024
CDKL53Aug 15, 2024
CDKN1B2Aug 15, 2024
CDKN1C1Aug 15, 2024
CDKN2A9Sep 13, 2024
CDON1Aug 15, 2024
CDT11Aug 15, 2024
CEACAM161Aug 15, 2024
CEACAM16-AS11Aug 15, 2024
CELF21Aug 15, 2024
CELF2-AS11Aug 15, 2024
CELSR11Aug 15, 2024
CENPF3Aug 15, 2024
CEP1521Aug 15, 2024
CEP2903Aug 15, 2024
CEP571Aug 15, 2024
CEP85L3Aug 15, 2024
CERS11Aug 15, 2024
CFAP20DC1Mar 12, 2025
CFAP20DC-AS11Mar 12, 2025
CFAP531Aug 15, 2024
CFHR51Aug 15, 2024
CFTR35Aug 15, 2024
CFTR-AS12Aug 15, 2024
CGNL11Aug 15, 2024
CHCHD101Aug 15, 2024
CHD13Mar 17, 2025
CHD22Aug 15, 2024
CHD31Aug 15, 2024
CHD43Aug 15, 2024
CHD52Mar 11, 2025
CHD78Aug 15, 2024
CHD83Mar 4, 2025
CHEK223Mar 28, 2025
CHM1Aug 15, 2024
CHMP1A1Aug 15, 2024
CHRND3Aug 15, 2024
CHRNE1Mar 17, 2025
CHRNG1Aug 15, 2024
CHST141Aug 15, 2024
CIC1Aug 15, 2024
CIT1Aug 15, 2024
CKAP2L2Aug 15, 2024
CLCN15Sep 10, 2024
CLCN21Aug 15, 2024
CLCN61Aug 15, 2024
CLCN72Aug 15, 2024
CLN31Aug 15, 2024
CLN62Aug 15, 2024
CLP11Aug 15, 2024
CLTC3Mar 18, 2025
CLTCL12Aug 15, 2024
CNGB32Aug 15, 2024
CNKSR21Aug 15, 2024
CNNM21Aug 15, 2024
CNOT32Aug 15, 2024
CNPY31Aug 15, 2024
CNPY3-GNMT1Aug 15, 2024
COCH1Aug 15, 2024
COL11A12Aug 15, 2024
COL11A21Aug 15, 2024
COL12A15Aug 15, 2024
COL18A12Aug 15, 2024
COL1A113Mar 10, 2025
COL1A212Mar 13, 2025
COL2A18Aug 15, 2024
COL3A110Mar 18, 2025
COL4A15Aug 15, 2024
COL4A21Aug 15, 2024
COL4A34Mar 13, 2025
COL4A42Aug 15, 2024
COL4A58Aug 15, 2024
COL4A62Aug 15, 2024
COL5A17Aug 15, 2024
COL5A24Aug 15, 2024
COL6A13Aug 15, 2024
COL6A22Aug 15, 2024
COL6A37Aug 15, 2024
COL7A14Mar 16, 2025
COL9A11Aug 15, 2024
COL9A21Aug 15, 2024
COMP1Aug 15, 2024
COQ71Mar 5, 2025
COQ8A1Aug 15, 2024
CORO1A1Aug 15, 2024
COX6B11Aug 15, 2024
CPLANE13Aug 15, 2024
CPT1C1Aug 15, 2024
CPT22Aug 15, 2024
CREBBP6Mar 14, 2025
CRYAA1Aug 15, 2024
CSF1R2Aug 15, 2024
CSNK2A13Aug 15, 2024
CSNK2B2Aug 15, 2024
CSPP11Mar 17, 2025
CSRP32Aug 15, 2024
CTH1Aug 15, 2024
CTLA41Aug 15, 2024
CTNNA34Aug 15, 2024
CTNNB14Mar 14, 2025
CTR91Aug 15, 2024
CTRC1Mar 31, 2025
CUBN1Aug 15, 2024
CUL31Aug 15, 2024
CUX22Aug 15, 2024
CYBA1Aug 15, 2024
CYLD1Mar 10, 2025
CYLD-AS21Mar 10, 2025
CYP11B11Aug 15, 2024
CYP11B21Aug 15, 2024
CYP1B12Aug 15, 2024
CYP21A27Aug 15, 2024
CYP24A11Aug 15, 2024
CYP27B11Aug 15, 2024
CYP2U11Aug 15, 2024
CYP7B12Aug 15, 2024
DAB12Aug 15, 2024
DBR11Aug 15, 2024
DCAF81Aug 15, 2024
DCHS12Aug 15, 2024
DCTN15Feb 17, 2025
DCTN51Aug 15, 2024
DCX1Aug 15, 2024
DDHD23Aug 15, 2024
DDR21Aug 15, 2024
DDX112Aug 15, 2024
DDX3X4Aug 15, 2024
DDX411Aug 15, 2024
DENND5A2Aug 15, 2024
DEPDC52Aug 15, 2024
DGAT21Aug 15, 2024
DHDDS1Aug 15, 2024
DHTKD12Aug 15, 2024
DHX161Aug 15, 2024
DHX301Aug 15, 2024
DHX371Aug 15, 2024
DIAPH11Aug 15, 2024
DICER13Aug 15, 2024
DKC11Aug 15, 2024
DLD1Mar 17, 2025
DLG31Aug 15, 2024
DLG41Mar 17, 2025
DLL31Aug 15, 2024
DLST3Aug 15, 2024
DMD20Mar 7, 2025
DMXL27Aug 15, 2024
DNAAF111Aug 15, 2024
DNAH114Mar 11, 2025
DNAH57Mar 27, 2025
DNASE11Aug 15, 2024
DNM1L1Aug 15, 2024
DNM22Aug 15, 2024
DNMT13Aug 15, 2024
DNMT3A5Aug 15, 2024
DOCK71Aug 15, 2024
DOK71Aug 15, 2024
DPAGT11Aug 15, 2024
DPM11Aug 15, 2024
DPP61Aug 15, 2024
DPYD1Aug 15, 2024
DROSHA2Aug 15, 2024
DRP21Aug 15, 2024
DSC24Aug 15, 2024
DSG28Dec 12, 2024
DSG2-AS14Dec 12, 2024
DSP9Aug 15, 2024
DST1Aug 15, 2024
DUOX21Aug 15, 2024
DYNC1H18Aug 15, 2024
DYRK1A2Aug 15, 2024
DYSF1Aug 15, 2024
EBF32Feb 14, 2025
EBP2Aug 15, 2024
EDAR1Aug 15, 2024
EDC32Aug 15, 2024
EDNRA1Aug 15, 2024
EDNRB1Aug 15, 2024
EDNRB-AS11Aug 15, 2024
EEF21Mar 12, 2025
EFEMP21Aug 15, 2024
EFTUD24Mar 19, 2025
EGLN11Aug 15, 2024
EGR21Aug 15, 2024
EHMT12Aug 15, 2024
EIF2AK11Aug 15, 2024
ELN4Aug 15, 2024
ELOVL41Aug 15, 2024
ELP11Aug 15, 2024
EME21Aug 15, 2024
ENG11Feb 4, 2025
EP3006Mar 16, 2025
EPAS11Aug 15, 2024
EPB41L11Aug 15, 2024
EPC11Aug 15, 2024
EPHB44Aug 15, 2024
ERCC21Mar 15, 2025
ERCC51Aug 15, 2024
ERCC63Aug 15, 2024
ERCC6L21Aug 15, 2024
ERCC81Aug 15, 2024
ERLIN21Mar 20, 2025
ESCO21Aug 15, 2024
ETHE11Mar 17, 2025
ETV61Aug 15, 2024
EVC1Aug 15, 2024
EXPH52Aug 15, 2024
EXT11Aug 15, 2024
EXT21Aug 15, 2024
EYA11Aug 15, 2024
EZH21Mar 18, 2025
F121Aug 15, 2024
F13A12Mar 18, 2025
F13B1Aug 15, 2024
F22Aug 15, 2024
F52Aug 15, 2024
F72Aug 15, 2024
F82Aug 15, 2024
FAM50A1Aug 15, 2024
FANCA4Aug 15, 2024
FANCB1Aug 15, 2024
FANCC2Aug 15, 2024
FANCI2Aug 15, 2024
FAR11Aug 15, 2024
FAS1Aug 15, 2024
FAT21Aug 15, 2024
FAT41Aug 15, 2024
FBLN54Aug 15, 2024
FBN145Apr 8, 2025
FBN28Aug 15, 2024
FBXO111Aug 15, 2024
FBXW71Aug 15, 2024
FCN31Aug 15, 2024
FCSK1Aug 15, 2024
FGD11Aug 15, 2024
FGD41Aug 15, 2024
FGF122Aug 15, 2024
FGF232Mar 20, 2025
FGF81Aug 15, 2024
FGFR14Aug 15, 2024
FGFR22Aug 15, 2024
FGFR39Aug 15, 2024
FH5Aug 15, 2024
FHOD34Aug 15, 2024
FIG42Aug 15, 2024
FKBP101Aug 15, 2024
FKRP1Aug 15, 2024
FLCN9Aug 15, 2024
FLG1Aug 15, 2024
FLNA5Aug 15, 2024
FLNB1Aug 15, 2024
FLNC18Sep 13, 2024
FLNC-AS16Aug 15, 2024
FLT41Aug 15, 2024
FMO32Aug 15, 2024
FMR11Aug 15, 2024
FN11Aug 15, 2024
FOXC11Aug 15, 2024
FOXC21Aug 15, 2024
FOXG11Aug 15, 2024
FOXN11Feb 10, 2025
FOXO11Aug 15, 2024
FOXP13Mar 11, 2025
FPGT-TNNI3K3Aug 15, 2024
FREM11Aug 15, 2024
FRMD4A1Aug 15, 2024
FRMPD41Aug 15, 2024
FTL2Aug 15, 2024
FUCA11Aug 15, 2024
FUS1Aug 15, 2024
FXN1Aug 15, 2024
FZD41Aug 15, 2024
G6PD7Aug 15, 2024
GAA3Aug 15, 2024
GABRA12Aug 15, 2024
GALC2Aug 15, 2024
GALE2Aug 15, 2024
GALNS3Aug 15, 2024
GAMT2Aug 15, 2024
GATA22Aug 15, 2024
GATA31Aug 15, 2024
GATA41Mar 16, 2025
GATA61Aug 15, 2024
GBA11Aug 15, 2024
GBA22Aug 15, 2024
GBF11Aug 15, 2024
GCK1Aug 15, 2024
GDF11Aug 15, 2024
GEMIN52Aug 15, 2024
GFAP2Aug 15, 2024
GH-LCR4Aug 15, 2024
GIGYF11Mar 7, 2025
GJA81Aug 15, 2024
GJB13Aug 15, 2024
GJB28Aug 15, 2024
GJB31Aug 15, 2024
GJC21Aug 15, 2024
GJD2-DT2Aug 15, 2024
GLA6Mar 12, 2025
GLI21Aug 15, 2024
GLRA11Aug 15, 2024
GLRB1Mar 6, 2025
GNAL1Aug 15, 2024
GNAO11Aug 15, 2024
GNAS3Aug 15, 2024
GNB11Aug 15, 2024
GNB52Aug 15, 2024
GNE1Aug 15, 2024
GNPTAB1Aug 15, 2024
GNRHR2Aug 15, 2024
GP1BA1Aug 15, 2024
GP92Aug 15, 2024
GPC32Aug 15, 2024
GPD11Aug 15, 2024
GPR1431Mar 7, 2025
GRIA21Aug 15, 2024
GRIA31Aug 15, 2024
GRIA41Aug 15, 2024
GRIN2A2Aug 15, 2024
GRIN2B2Aug 15, 2024
GRM11Aug 15, 2024
GRN2Aug 15, 2024
H1-41Aug 15, 2024
HAAO1Aug 15, 2024
HADHB1Aug 15, 2024
HAX12Aug 15, 2024
HBA-LCR2Aug 15, 2024
HBB5Aug 15, 2024
HCN43Aug 15, 2024
HDAC41Aug 15, 2024
HDAC81Aug 15, 2024
HECW22Aug 15, 2024
HEXA1Aug 15, 2024
HFE3Mar 5, 2025
HFE-AS11Aug 15, 2024
HIVEP23Aug 15, 2024
HJV1Aug 15, 2024
HMGCR1Mar 21, 2025
HNF1B3Aug 15, 2024
HNRNPK1Aug 15, 2024
HNRNPK-AS11Aug 15, 2024
HNRNPU1Aug 15, 2024
HNRNPUL2-BSCL22Aug 15, 2024
HOXA21Mar 18, 2025
HPGD1Nov 12, 2024
HPS11Aug 15, 2024
HRAS3Aug 15, 2024
HSD17B41Aug 15, 2024
HSPB11Aug 15, 2024
HSPD11Mar 20, 2025
HSPG21Aug 15, 2024
HTRA13Aug 15, 2024
HTT1Aug 15, 2024
HUWE12Aug 15, 2024
HYDIN2Aug 15, 2024
IARS21Aug 15, 2024
IDUA4Aug 15, 2024
IFIH11Mar 12, 2025
IFT1222Aug 15, 2024
IFT1721Aug 15, 2024
IGF11Aug 15, 2024
IGF1R3Aug 15, 2024
IGSF11Aug 15, 2024
IHH1Mar 7, 2025
IL11RA1Aug 15, 2024
IL1RAPL12Aug 15, 2024
IL6ST1Aug 15, 2024
INO801Aug 15, 2024
INPP5E2Aug 15, 2024
INPP5K1Aug 15, 2024
INSL61Aug 15, 2024
INSR1Aug 15, 2024
INVS2Aug 15, 2024
IP6K11Aug 15, 2024
IQSEC21Aug 15, 2024
IRAK1BP12Aug 15, 2024
ITGA81Aug 15, 2024
ITGB31Aug 15, 2024
ITGB41Aug 15, 2024
ITK1Aug 15, 2024
ITM2B2Aug 15, 2024
ITPR15Aug 15, 2024
IVD2Aug 15, 2024
JAG11Aug 15, 2024
JAK21Aug 15, 2024
JMJD1C1Aug 15, 2024
JUP7Aug 15, 2024
KAT6A4Aug 15, 2024
KAT6B1Aug 15, 2024
KAT81Aug 15, 2024
KATNB11Aug 15, 2024
KATNIP1Aug 15, 2024
KCNA21Aug 15, 2024
KCNA51Aug 15, 2024
KCNC11Aug 15, 2024
KCNC33Aug 15, 2024
KCND32Aug 15, 2024
KCNE11Feb 7, 2025
KCNE51Aug 15, 2024
KCNH12Mar 17, 2025
KCNH210Aug 15, 2024
KCNJ111Aug 15, 2024
KCNJ181Aug 15, 2024
KCNJ22Aug 15, 2024
KCNN41Aug 15, 2024
KCNQ122Mar 16, 2025
KCNQ28Aug 15, 2024
KCNQ43Aug 15, 2024
KCNT11Aug 15, 2024
KCNT22Mar 5, 2025
KCTD71Aug 15, 2024
KDM5B3Mar 16, 2025
KDM6A2Aug 15, 2024
KDM6B2Aug 15, 2024
KDR1Aug 15, 2024
KIAA05861Aug 15, 2024
KIDINS2201Aug 15, 2024
KIF111Aug 15, 2024
KIF142Aug 15, 2024
KIF1A4Aug 15, 2024
KIF20A1Aug 15, 2024
KIF21A1Mar 10, 2025
KIF21B1Aug 15, 2024
KIF5A4Mar 12, 2025
KIF5C2Aug 15, 2024
KIF73Aug 15, 2024
KISS1R1Aug 15, 2024
KIT2Aug 15, 2024
KLF121Aug 15, 2024
KLHL401Aug 15, 2024
KMT2A5Aug 15, 2024
KMT2B1Aug 15, 2024
KMT2C1Aug 15, 2024
KMT2D8Mar 28, 2025
KMT2E2Aug 15, 2024
KNL11Aug 15, 2024
KRAS1Nov 22, 2024
KRIT14Mar 19, 2025
KRT12Aug 15, 2024
KRT142Mar 19, 2025
KRT171Aug 15, 2024
KRT53Mar 12, 2025
KRT6A1Aug 15, 2024
KRT6C1Aug 15, 2024
KRT811Aug 15, 2024
KRT861Aug 15, 2024
KRT91Aug 15, 2024
L1CAM1Aug 15, 2024
LAMA11Aug 15, 2024
LAMA21Aug 15, 2024
LAMA42Aug 15, 2024
LAMB11Aug 15, 2024
LAMB31Aug 15, 2024
LAMC31Aug 15, 2024
LAMP21Aug 15, 2024
LARGE11Aug 15, 2024
LARS12Aug 15, 2024
LARS21Aug 15, 2024
LBR1Aug 15, 2024
LDB35Aug 15, 2024
LDLR27Mar 21, 2025
LGI11Aug 15, 2024
LINC024561Aug 15, 2024
LITAF1Aug 15, 2024
LMNA18Mar 21, 2025
LMX1B2Aug 15, 2024
LOC1001316261Aug 15, 2024
LOC1002879443Aug 15, 2024
LOC1005060711Aug 15, 2024
LOC1019270551Aug 15, 2024
LOC1019280081Aug 15, 2024
LOC1027235664Aug 15, 2024
LOC1027240583Aug 15, 2024
LOC1053699371Aug 15, 2024
LOC1053708902Aug 15, 2024
LOC1053715661Aug 15, 2024
LOC1060990625Aug 15, 2024
LOC1067808007Aug 15, 2024
LOC1067808031Aug 15, 2024
LOC1067998331Aug 15, 2024
LOC1067998341Aug 15, 2024
LOC1071335105Aug 15, 2024
LOC1073723151Aug 15, 2024
LOC1076524451Mar 12, 2025
LOC1082811771Aug 15, 2024
LOC1101212693Aug 15, 2024
LOC1116744725Aug 15, 2024
LOC1116744752Aug 15, 2024
LOC1126947561Aug 15, 2024
LOC1139399441Apr 8, 2025
LOC1148278501Aug 15, 2024
LOC1148278513Aug 15, 2024
LOC1215875742Aug 15, 2024
LOC1221522961Aug 15, 2024
LOC1246259201Aug 15, 2024
LOC1249038271Aug 15, 2024
LOC1251775231Aug 15, 2024
LOC1268057651Aug 15, 2024
LOC1268059161Aug 15, 2024
LOC1268060671Aug 15, 2024
LOC1268060682Aug 15, 2024
LOC1268064261Aug 15, 2024
LOC1268064331Aug 15, 2024
LOC1268071372Aug 15, 2024
LOC1268073231Aug 15, 2024
LOC1268596971Aug 15, 2024
LOC1268597121Aug 15, 2024
LOC1268601241Aug 15, 2024
LOC1268604691Aug 15, 2024
LOC1268605821Aug 15, 2024
LOC1268608021Aug 15, 2024
LOC1268609332Aug 15, 2024
LOC1268612841Aug 15, 2024
LOC1268614521Aug 15, 2024
LOC1268618341Aug 15, 2024
LOC1268618961Aug 15, 2024
LOC1268618974Mar 19, 2025
LOC1268618985Feb 26, 2025
LOC1268619361Aug 15, 2024
LOC1268621241Aug 15, 2024
LOC1268621311Aug 15, 2024
LOC1268621732Aug 15, 2024
LOC1268622644Aug 15, 2024
LOC1268624791Mar 17, 2025
LOC1268625011Aug 15, 2024
LOC12686257122Aug 15, 2024
LOC1268625861Aug 15, 2024
LOC1268632753Aug 15, 2024
LOC1293909031Aug 15, 2024
LOC1293911061Aug 15, 2024
LOC1299305611Aug 15, 2024
LOC1299315971Aug 15, 2024
LOC1299322491Aug 15, 2024
LOC1299938951Aug 15, 2024
LOC1299949851Aug 15, 2024
LOC1299956351Aug 15, 2024
LOC1299983951Aug 15, 2024
LOC1300040371Aug 15, 2024
LOC1300046281Aug 15, 2024
LOC1300056851Mar 12, 2025
LOC1300076631Aug 15, 2024
LOC1300078171Aug 15, 2024
LOC1300091171Aug 15, 2024
LOC1300097511Aug 15, 2024
LOC1300562171Aug 15, 2024
LOC1300573631Aug 15, 2024
LOC1300581661Aug 15, 2024
LOC1300589071Aug 15, 2024
LOC1300600441Aug 15, 2024
LOC1300609031Aug 15, 2024
LOC1300629451Aug 15, 2024
LOC1300649721Aug 15, 2024
LOC1300668681Aug 15, 2024
LOX1Aug 15, 2024
LOXHD11Aug 15, 2024
LPL2Aug 15, 2024
LRP23Aug 15, 2024
LRP52Aug 15, 2024
LRPPRC1Aug 15, 2024
LRRC531Aug 15, 2024
LRRC563Aug 15, 2024
LRRK23Aug 15, 2024
LRSAM11Aug 15, 2024
LSS1Aug 15, 2024
LTBP22Apr 1, 2025
LTBP31Aug 15, 2024
LURAP1L-AS12Aug 15, 2024
LZTR113Aug 15, 2024
MACF14Aug 15, 2024
MAGEL22Aug 15, 2024
MAN2B12Aug 15, 2024
MAOA1Aug 15, 2024
MAP2K21Aug 15, 2024
MAP3K11Aug 15, 2024
MAP3K71Aug 15, 2024
MAPK11Aug 15, 2024
MAPK8IP31Aug 15, 2024
MAPT1Mar 12, 2025
MARS11Aug 15, 2024
MARVELD21Aug 15, 2024
MASP11Aug 15, 2024
MAST11Aug 15, 2024
MATN31Aug 15, 2024
MATR31Aug 15, 2024
MBOAT71Mar 15, 2025
MC4R1Aug 15, 2024
MCCC11Aug 15, 2024
MCOLN11Aug 15, 2024
MDH21Dec 12, 2024
MEA12Mar 17, 2025
MECP26Aug 15, 2024
MED126Aug 15, 2024
MED12L2Aug 15, 2024
MED13L2Aug 15, 2024
MED231Aug 15, 2024
MED251Aug 15, 2024
MEFV8Jan 20, 2025
MEN17Nov 26, 2024
MFAP51Aug 15, 2024
MFF-DT4Mar 13, 2025
MFN22Aug 15, 2024
MHRT6Mar 19, 2025
MIB12Aug 15, 2024
MID12Aug 15, 2024
MID21Aug 15, 2024
MIR12251Aug 15, 2024
MITF1Aug 15, 2024
MKKS1Aug 15, 2024
MKS12Aug 15, 2024
MLH124Mar 4, 2025
MLIP1Aug 15, 2024
MME1Aug 15, 2024
MMGT11Mar 18, 2025
MMP21Aug 15, 2024
MN12Aug 15, 2024
MNX11Mar 13, 2025
MOB21Aug 15, 2024
MOCOS1Aug 15, 2024
MOCS21Aug 15, 2024
MORC22Aug 15, 2024
MOV10L11Aug 15, 2024
MPL3Aug 15, 2024
MPV171Aug 15, 2024
MPZ3Aug 15, 2024
MRPS341Aug 15, 2024
MSC-AS11Aug 15, 2024
MSH223Aug 15, 2024
MSH638Mar 13, 2025
MSL31Aug 15, 2024
MSN1Aug 15, 2024
MSRB31Aug 15, 2024
MSTO15Aug 15, 2024
MT-ATP610Aug 15, 2024
MT-ATP85Aug 15, 2024
MT-CO16Aug 15, 2024
MT-CO21Aug 15, 2024
MT-CO34Aug 15, 2024
MT-CYB3Aug 15, 2024
MT-ND19Aug 15, 2024
MT-ND22Aug 15, 2024
MT-ND31Aug 15, 2024
MT-ND43Aug 15, 2024
MT-ND4L1Aug 15, 2024
MT-ND55Aug 15, 2024
MT-ND63Aug 15, 2024
MT-RNR13Aug 15, 2024
MT-RNR24Aug 15, 2024
MT-TA1Aug 15, 2024
MT-TC1Aug 15, 2024
MT-TD1Aug 15, 2024
MT-TE1Aug 15, 2024
MT-TG1Aug 15, 2024
MT-TH1Aug 15, 2024
MT-TI1Aug 15, 2024
MT-TK1Aug 15, 2024
MT-TL12Aug 15, 2024
MT-TM2Aug 15, 2024
MT-TN1Aug 15, 2024
MT-TQ2Aug 15, 2024
MT-TR1Aug 15, 2024
MT-TS12Aug 15, 2024
MT-TS21Aug 15, 2024
MT-TW2Aug 15, 2024
MT-TY1Aug 15, 2024
MTHFR1Aug 15, 2024
MTM12Aug 15, 2024
MTOR2Mar 13, 2025
MTSS21Aug 15, 2024
MUC11Aug 15, 2024
MUTYH10Aug 15, 2024
MVK1Aug 15, 2024
MVP-DT4Aug 15, 2024
MYBPC13Aug 15, 2024
MYBPC353Mar 31, 2025
MYCN2Feb 17, 2025
MYCNOS1Aug 15, 2024
MYH101Aug 15, 2024
MYH114Aug 15, 2024
MYH143Aug 15, 2024
MYH21Aug 15, 2024
MYH32Aug 15, 2024
MYH620Aug 15, 2024
MYH735Apr 7, 2025
MYH93Mar 16, 2025
MYHAS1Aug 15, 2024
MYL24Aug 15, 2024
MYL34Aug 15, 2024
MYL41Aug 15, 2024
MYLK3Aug 15, 2024
MYLK31Aug 15, 2024
MYO15A6Aug 15, 2024
MYO18B1Aug 15, 2024
MYO5A1Aug 15, 2024
MYO65Aug 15, 2024
MYO7A13Aug 15, 2024
MYORG2Mar 19, 2025
MYOT1Aug 15, 2024
MYPN6Aug 15, 2024
NACC11Aug 15, 2024
NAGLU2Aug 15, 2024
NALCN3Aug 15, 2024
NARS12Aug 15, 2024
NBN1Aug 15, 2024
NCAPD21Aug 15, 2024
NCKAP1L1Aug 15, 2024
NDE13Aug 15, 2024
NDRG11Aug 15, 2024
NEB2Aug 15, 2024
NEFH1Aug 15, 2024
NEK91Aug 15, 2024
NEXN8Mar 13, 2025
NF124Mar 15, 2025
NF21Aug 15, 2024
NFIA1Aug 15, 2024
NFIX2Aug 15, 2024
NGLY11Aug 15, 2024
NHLRC11Aug 15, 2024
NHS2Aug 15, 2024
NIN1Aug 15, 2024
NIPAL41Aug 15, 2024
NIPBL2Aug 15, 2024
NKIRAS11Aug 15, 2024
NKX2-51Aug 15, 2024
NLRP31Aug 15, 2024
NOD21Aug 15, 2024
NONO1Aug 15, 2024
NOTCH17Aug 15, 2024
NOTCH311Aug 15, 2024
NPC21Aug 15, 2024
NPHS12Aug 15, 2024
NPR22Aug 15, 2024
NPRL32Aug 15, 2024
NR2F14Mar 16, 2025
NR2F1-AS14Mar 16, 2025
NRAP1Aug 15, 2024
NRAS2Aug 15, 2024
NRXN31Aug 15, 2024
NSD12Mar 17, 2025
NTHL11Aug 15, 2024
NUP1332Aug 15, 2024
NUP1602Mar 12, 2025
NUP2051Aug 15, 2024
NUS11Aug 15, 2024
OCRL2Aug 15, 2024
ODAD22Aug 15, 2024
ODAPH1Aug 15, 2024
OFD15Aug 15, 2024
OGT1Aug 15, 2024
OPA15Mar 16, 2025
OPA31Aug 15, 2024
OPHN14Aug 15, 2024
OPN1LW1Aug 15, 2024
ORAI11Aug 15, 2024
ORC11Aug 15, 2024
OSGEP2Aug 15, 2024
OTOF5Aug 15, 2024
OTOG1Aug 15, 2024
OTOGL1Aug 15, 2024
OXTR1Aug 15, 2024
P2RX21Aug 15, 2024
P4HB2Aug 15, 2024
PABPN11Aug 15, 2024
PACS11Aug 15, 2024
PACS23Aug 15, 2024
PAH3Aug 15, 2024
PAK31Aug 15, 2024
PALB233Aug 15, 2024
PARN1Aug 15, 2024
PAX32Mar 16, 2025
PAX61Aug 15, 2024
PCDH121Aug 15, 2024
PCDH154Aug 15, 2024
PCDH193Mar 18, 2025
PCSK93Aug 15, 2024
PDCD101Aug 15, 2024
PDE11A1Aug 15, 2024
PDE2A2Aug 15, 2024
PDE3A2Aug 15, 2024
PDE3A-AS11Aug 15, 2024
PDE4D1Aug 15, 2024
PDGFRA1Aug 15, 2024
PDGFRB1Aug 15, 2024
PDHA12Aug 15, 2024
PDK31Aug 15, 2024
PEX161Aug 15, 2024
PEX62Mar 26, 2025
PHEX3Aug 15, 2024
PHF62Mar 17, 2025
PHIP3Aug 15, 2024
PHKA12Aug 15, 2024
PHKG21Aug 15, 2024
PHOX2B1Aug 15, 2024
PICALM1Aug 15, 2024
PIEZO13Aug 15, 2024
PIEZO21Aug 15, 2024
PIGA1Mar 18, 2025
PIGN1Aug 15, 2024
PIGO1Aug 15, 2024
PIGU1Aug 15, 2024
PIGV2Aug 15, 2024
PIK3CA1Aug 15, 2024
PIK3R11Aug 15, 2024
PIK3R21Aug 15, 2024
PIKFYVE1Aug 15, 2024
PINK12Aug 15, 2024
PINK1-AS1Aug 15, 2024
PITRM12Mar 7, 2025
PITRM1-AS11Aug 15, 2024
PITX21Aug 15, 2024
PJVK1Jul 19, 2024
PKD130Mar 28, 2025
PKD1-AS15Mar 21, 2025
PKD21Aug 15, 2024
PKD2L2-DT1Aug 15, 2024
PKHD18Mar 21, 2025
PKLR3Aug 15, 2024
PKP211Aug 15, 2024
PLAA1Aug 15, 2024
PLCB11Aug 15, 2024
PLD31Aug 15, 2024
PLEC5Aug 15, 2024
PLEKHM21Aug 15, 2024
PLN2Aug 15, 2024
PLS11Aug 15, 2024
PLS31Aug 15, 2024
PLXND11Aug 15, 2024
PMM22Aug 15, 2024
PMP221Aug 15, 2024
PMS221Aug 15, 2024
PMVK1Aug 15, 2024
PNKP2Aug 15, 2024
PNPLA21Aug 15, 2024
PNPLA81Aug 15, 2024
PNPO1Aug 15, 2024
POGZ2Aug 15, 2024
POLA11Aug 15, 2024
POLD17Aug 15, 2024
POLE15Aug 15, 2024
POLG5Mar 16, 2025
POLGARF5Mar 16, 2025
POLR2F3Aug 15, 2024
POLR3A3Aug 15, 2024
POLR3B4Aug 15, 2024
POLRMT1Aug 15, 2024
POMGNT11Aug 15, 2024
POMT11Aug 15, 2024
PORCN1Aug 15, 2024
POU3F41Aug 15, 2024
PPM1D1Aug 15, 2024
PPP2CA1Aug 15, 2024
PPP2R5D3Mar 17, 2025
PPP3CA1Aug 15, 2024
PQBP13Aug 15, 2024
PRDM165Aug 15, 2024
PREPL1Aug 15, 2024
PRF11Aug 15, 2024
PRKAG24Aug 15, 2024
PRKG12Aug 15, 2024
PRKN2Aug 15, 2024
PRMT71Aug 15, 2024
PRNP1Aug 15, 2024
PROP12Aug 15, 2024
PROS11Mar 12, 2025
PRPS11Aug 15, 2024
PRRT24Aug 15, 2024
PRSS11Aug 15, 2024
PRSS231Aug 15, 2024
PRX1Aug 15, 2024
PSAP1Aug 15, 2024
PSEN11Mar 13, 2025
PSMC51Aug 15, 2024
PSMD121Aug 15, 2024
PTCH12Aug 15, 2024
PTCHD1-AS3Aug 15, 2024
PTEN7Mar 14, 2025
PTPN1118Aug 15, 2024
PTPRQ2Aug 15, 2024
PUF601Aug 15, 2024
PURA2Aug 15, 2024
PYGM1Aug 15, 2024
QRICH13Aug 15, 2024
RAB11B1Mar 28, 2025
RAB27A1Aug 15, 2024
RAC21Aug 15, 2024
RAD51C3Aug 15, 2024
RAD51D2Aug 15, 2024
RAD51L3-RFFL1Aug 15, 2024
RAD54B1Aug 15, 2024
RAF13Aug 15, 2024
RAI13Mar 12, 2025
RANBP21Aug 15, 2024
RAPSN1Aug 15, 2024
RARS23Aug 15, 2024
RASA14Aug 15, 2024
RB12Aug 15, 2024
RBM204Aug 15, 2024
RBM281Aug 15, 2024
REEP13Aug 15, 2024
RELN3Aug 15, 2024
REN1Aug 15, 2024
REST1Mar 12, 2025
RET8Mar 13, 2025
RFX42Aug 15, 2024
RHOBTB22Aug 15, 2024
RIC11Aug 15, 2024
RIGI1Aug 15, 2024
RIMS22Aug 15, 2024
RIN22Aug 15, 2024
RINT12Aug 15, 2024
RIPK11Aug 15, 2024
RIT11Aug 15, 2024
RNASEH2B1Aug 15, 2024
RNF1251Aug 15, 2024
RNF131Aug 15, 2024
RNF141Aug 15, 2024
RNU4-11Mar 18, 2025
RNU4-21Mar 18, 2025
RNU7-12Mar 15, 2025
ROBO31Aug 15, 2024
RORB1Aug 15, 2024
RP11Aug 15, 2024
RP1L11Aug 15, 2024
RPGR2Aug 15, 2024
RPL151Aug 15, 2024
RPL36A-HNRNPH26Mar 12, 2025
RPL3L1Aug 15, 2024
RPS191Aug 15, 2024
RPS261Dec 12, 2024
RPS6KA34Mar 15, 2025
RRAGD1Aug 15, 2024
RRAS21Aug 15, 2024
RTN4IP11Aug 15, 2024
RUNX12Aug 15, 2024
RUNX1-AS12Aug 15, 2024
RUNX22Aug 15, 2024
RUVBL11Aug 15, 2024
RYR17Aug 15, 2024
RYR218Aug 15, 2024
RYR33Aug 15, 2024
SACS4Aug 15, 2024
SALL13Aug 15, 2024
SAMD9L3Aug 15, 2024
SARS21Aug 15, 2024
SATB21Mar 19, 2025
SBDS2Aug 15, 2024
SBF13Aug 15, 2024
SBF23Aug 15, 2024
SCAF41Aug 15, 2024
SCN11A1Aug 15, 2024
SCN1A6Aug 15, 2024
SCN1B2Aug 15, 2024
SCN2A2Aug 15, 2024
SCN3A2Aug 15, 2024
SCN3B1Aug 15, 2024
SCN4A7Aug 15, 2024
SCN5A32Mar 31, 2025
SCN8A4Aug 15, 2024
SCN9A1Mar 10, 2025
SCNN1B1Aug 15, 2024
SCNN1G1Aug 15, 2024
SDHA5Mar 12, 2025
SDHB6Aug 15, 2024
SDHC3Aug 15, 2024
SDHD1Feb 4, 2025
SEC23B3Aug 15, 2024
SEC61A11Aug 15, 2024
SEC631Aug 15, 2024
SECISBP21Aug 15, 2024
SELENON1Aug 15, 2024
SEMA3E1Aug 15, 2024
SEPTIN91Aug 15, 2024
SERAC11Aug 15, 2024
SERPINA12Aug 15, 2024
SERPINC11Aug 15, 2024
SERPING11Aug 15, 2024
SETBP12Mar 6, 2025
SETD1A3Mar 15, 2025
SETD1B1Mar 14, 2025
SETD24Aug 15, 2024
SETD58Mar 11, 2025
SETX1Aug 15, 2024
SGCA2Aug 15, 2024
SGCB1Aug 15, 2024
SGCE2Aug 15, 2024
SGSH2Aug 15, 2024
SH3TC26Aug 15, 2024
SHANK21Aug 15, 2024
SHANK34Mar 11, 2025
SHOC21Aug 15, 2024
SHOX5Mar 12, 2025
SHROOM41Aug 15, 2024
SIK32Aug 15, 2024
SIN3A2Aug 15, 2024
SIRT41Mar 18, 2025
SIX11Aug 15, 2024
SKIC22Aug 15, 2024
SKIC31Aug 15, 2024
SLC12A21Aug 15, 2024
SLC12A36Mar 12, 2025
SLC12A51Aug 15, 2024
SLC16A21Mar 16, 2025
SLC17A52Aug 15, 2024
SLC17A81Aug 15, 2024
SLC19A12Aug 15, 2024
SLC1A11Aug 15, 2024
SLC1A31Aug 15, 2024
SLC20A22Mar 24, 2025
SLC22A52Aug 15, 2024
SLC25A131Aug 15, 2024
SLC25A382Aug 15, 2024
SLC26A12Aug 15, 2024
SLC26A46Aug 15, 2024
SLC26A5-AS13Aug 15, 2024
SLC29A32Aug 15, 2024
SLC2A11Aug 15, 2024
SLC2A101Aug 15, 2024
SLC34A33Mar 17, 2025
SLC36A11Aug 15, 2024
SLC39A71Aug 15, 2024
SLC3A13Aug 15, 2024
SLC40A11Aug 15, 2024
SLC4A111Aug 15, 2024
SLC4A31Mar 13, 2025
SLC5A21Aug 15, 2024
SLC6A191Aug 15, 2024
SLC9A61Aug 15, 2024
SLITRK21Aug 15, 2024
SMAD36Aug 15, 2024
SMAD42Aug 15, 2024
SMAD61Mar 16, 2025
SMAD91Aug 15, 2024
SMARCA22Aug 15, 2024
SMARCA42Aug 15, 2024
SMARCAD11Aug 15, 2024
SMARCB12Aug 15, 2024
SMARCC11Aug 15, 2024
SMARCC21Aug 15, 2024
SMPD11Aug 15, 2024
SMPD41Aug 15, 2024
SMURF11Aug 15, 2024
SNHG142Aug 15, 2024
SNRPB1Aug 15, 2024
SNRPN1Aug 15, 2024
SNURF1Aug 15, 2024
SNX142Aug 15, 2024
SON2Aug 15, 2024
SORL12Aug 15, 2024
SOS14Aug 15, 2024
SOS21Aug 15, 2024
SOX103Aug 15, 2024
SOX114Aug 15, 2024
SOX22Aug 15, 2024
SOX2-OT2Aug 15, 2024
SOX52Aug 15, 2024
SOX61Aug 15, 2024
SP72Aug 15, 2024
SPART1Aug 15, 2024
SPAST12Mar 19, 2025
SPECC1L1Aug 15, 2024
SPECC1L-ADORA2A1Aug 15, 2024
SPEG2Aug 15, 2024
SPEN1Aug 15, 2024
SPG113Aug 15, 2024
SPG76Aug 15, 2024
SPINK11Aug 15, 2024
SPINK52Aug 15, 2024
SPMIP111Aug 15, 2024
SPRED12Aug 15, 2024
SPTAN12Mar 21, 2025
SRCAP3Aug 15, 2024
SRD5A31Mar 18, 2025
SRD5A3-AS11Mar 18, 2025
SRFBP11Aug 15, 2024
SRPK21Aug 15, 2024
ST141Aug 15, 2024
STAG11Aug 15, 2024
STAG23Aug 15, 2024
STAG32Aug 15, 2024
STAT5B1Mar 13, 2025
STIM12Aug 15, 2024
STK113Sep 19, 2024
STK361Aug 15, 2024
STRC1Aug 15, 2024
STS1Aug 15, 2024
STUB11Aug 15, 2024
STX1B1Aug 15, 2024
STXBP12Aug 15, 2024
STXBP22Aug 15, 2024
SUFU1Aug 15, 2024
SURF11Aug 15, 2024
SUZ121Aug 15, 2024
SYN12Aug 15, 2024
SYNE15Aug 15, 2024
SYNE22Aug 15, 2024
SYNGAP13Aug 15, 2024
SYNGAP1-AS13Aug 15, 2024
SZT21Aug 15, 2024
TAB21Aug 15, 2024
TAF21Aug 15, 2024
TANC22Mar 18, 2025
TANGO21Aug 15, 2024
TARDBP1Aug 15, 2024
TBC1D231Aug 15, 2024
TBC1D71Aug 15, 2024
TBC1D7-LOC1001303571Aug 15, 2024
TBC1D8B1Aug 15, 2024
TBCEL-TECTA4Aug 15, 2024
TBK12Mar 31, 2025
TBL1XR11Mar 6, 2025
TBL1XR1-AS11Mar 6, 2025
TBP1Aug 15, 2024
TBX11Aug 15, 2024
TBX21Aug 15, 2024
TBX201Aug 15, 2024
TBX221Aug 15, 2024
TBX51Aug 15, 2024
TCAP3Aug 15, 2024
TCF121Aug 15, 2024
TCF203Mar 17, 2025
TCF43Aug 15, 2024
TCIRG11Aug 15, 2024
TCOF13Aug 15, 2024
TCTN31Aug 15, 2024
TECTA4Aug 15, 2024
TEK1Aug 15, 2024
TENM41Aug 15, 2024
TET31Aug 15, 2024
TGFB21Aug 15, 2024
TGFB31Aug 15, 2024
TGFBI1Aug 15, 2024
TGFBR13Mar 10, 2025
TGFBR23Aug 15, 2024
TGM12Aug 15, 2024
TGM51Aug 15, 2024
TGM62Aug 15, 2024
TH2Aug 15, 2024
THRA1Aug 15, 2024
THRB3Aug 15, 2024
THSD41Aug 15, 2024
TIA11Aug 15, 2024
TIMM8A1Aug 15, 2024
TK21Aug 15, 2024
TLK21Aug 15, 2024
TMC11Aug 15, 2024
TMEM1271Aug 15, 2024
TMEM2602Aug 15, 2024
TMEM433Aug 15, 2024
TMEM674Aug 15, 2024
TMPRSS38Aug 15, 2024
TNC2Aug 15, 2024
TNNC12Aug 15, 2024
TNNI36Feb 21, 2025
TNNI3K3Aug 15, 2024
TNNT27Aug 15, 2024
TNNT31Aug 15, 2024
TNRC6A2Aug 15, 2024
TNXB7Aug 15, 2024
TP5315Aug 15, 2024
TP632Aug 15, 2024
TPI13Aug 15, 2024
TPM16Aug 15, 2024
TPM22Aug 15, 2024
TPP14Aug 15, 2024
TPRN1Aug 15, 2024
TRAPPC6B1Aug 15, 2024
TRB1Aug 15, 2024
TRDN1Aug 15, 2024
TRIM21Aug 15, 2024
TRIM631Aug 15, 2024
TRIM711Aug 15, 2024
TRIO5Aug 15, 2024
TRIOBP1Aug 15, 2024
TRMU1Aug 15, 2024
TRPA11Aug 15, 2024
TRPC31Aug 15, 2024
TRPM44Aug 15, 2024
TRPM61Aug 15, 2024
TRPV31Aug 15, 2024
TRPV41Aug 15, 2024
TSC16Mar 16, 2025
TSC23Mar 12, 2025
TSEN341Aug 15, 2024
TSEN541Aug 15, 2024
TSHR1Aug 15, 2024
TSHR-AS11Aug 15, 2024
TSPAN11Aug 15, 2024
TTBK21Aug 15, 2024
TTC21B1Aug 15, 2024
TTN59Mar 21, 2025
TTN-AS136Mar 21, 2025
TTPA1Aug 15, 2024
TTR1Aug 15, 2024
TUBA1A1Aug 15, 2024
TUBB2A1Aug 15, 2024
TUBB4A3Aug 15, 2024
TULP11Aug 15, 2024
TWNK1Aug 15, 2024
TYR1Aug 15, 2024
TYRP13Aug 15, 2024
UBAP12Aug 15, 2024
UBAP2L2Mar 12, 2025
UBE3A1Aug 15, 2024
UBE4A2Aug 15, 2024
UBIAD11Aug 15, 2024
UBQLN21Aug 15, 2024
UBR41Aug 15, 2024
UMOD1Aug 15, 2024
UMPS1Aug 15, 2024
UNC45A1Aug 15, 2024
UPF3B2Aug 15, 2024
UROC11Aug 15, 2024
USH1C2Aug 15, 2024
USH2A13Mar 12, 2025
USH2A-AS22Aug 15, 2024
USP9X4Mar 16, 2025
VARS21Aug 15, 2024
VCL7Mar 20, 2025
VCP2Mar 13, 2025
VDR1Aug 15, 2024
VHL2Aug 15, 2024
VKORC11Mar 21, 2025
VPS13B2Aug 15, 2024
VSIR1Aug 15, 2024
VWA11Aug 15, 2024
VWF4Aug 15, 2024
WAC2Mar 18, 2025
WARS21Aug 15, 2024
WASHC52Mar 28, 2025
WBP111Aug 15, 2024
WDR261Aug 15, 2024
WDR352Aug 15, 2024
WDR41Mar 26, 2025
WDR451Aug 15, 2024
WDR622Aug 15, 2024
WDR731Aug 15, 2024
WFS12Mar 7, 2025
WNT11Aug 15, 2024
WT11Aug 15, 2024
WWOX1Aug 15, 2024
XIAP1Aug 15, 2024
XPC1Mar 26, 2025
XPR11Aug 15, 2024
XRCC22Aug 15, 2024
YEATS21Aug 15, 2024
YY11Aug 15, 2024
ZBTB202Aug 15, 2024
ZBTB241Mar 19, 2025
ZDHHC91Aug 15, 2024
ZEB23Mar 15, 2025
ZFPM21Aug 15, 2024
ZFPM2-AS11Aug 15, 2024
ZFYVE261Aug 15, 2024
ZMIZ11Mar 28, 2025
ZMYND101Aug 15, 2024
ZMYND111Aug 15, 2024
ZNF2761Aug 15, 2024
ZNF4071Aug 15, 2024
ZNF411Aug 15, 2024
ZNF4232Aug 15, 2024
ZNF4621Aug 15, 2024
ZNF4691Aug 15, 2024
ZNF6441Aug 15, 2024
ZSWIM62Aug 15, 2024

Condition

NameSubmissionsLast Updated
Abnormal aortic morphology1Mar 10, 2025
Abnormal cerebral vascular morphology1Mar 19, 2025
Abnormal heart morphology1Mar 16, 2025
Abnormal optic nerve morphology1Mar 18, 2025
Abnormal palate morphology1Mar 10, 2025
Abnormality of eye movement1Mar 10, 2025
Abnormality of the cardiovascular system2Mar 13, 2025
Abnormality of the digestive system1Mar 13, 2025
Abnormality of the musculoskeletal system1Mar 18, 2025
Abnormality of the vertebral column1Mar 13, 2025
Aortic aneurysm1Mar 6, 2025
Arrhythmogenic right ventricular cardiomyopathy1Sep 13, 2024
Autism1Mar 7, 2025
Autoinflammatory syndrome1Mar 21, 2025
Autosomal dominant polycystic kidney disease3Mar 28, 2025
Autosomal recessive limb-girdle muscular dystrophy1Mar 11, 2025
Autosomal recessive nonsyndromic hearing loss 1A1Jul 18, 2024
Blue rubber bleb nevus1Apr 17, 2025
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 16, 2025
Breast-ovarian cancer, familial, susceptibility to, 23Mar 13, 2025
Brooke-Spiegler syndrome1Mar 10, 2025
Brugada syndrome 11Mar 31, 2025
CDH1-related diffuse gastric and lobular breast cancer syndrome1Mar 19, 2025
Calf muscle atrophy1Mar 21, 2025
Carcinoma of colon1Mar 31, 2025
Cardiac arrhythmia1Mar 13, 2025
Cardiomyopathy3Apr 7, 2025
Cerebellar ataxia1Mar 7, 2025
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 12Sep 5, 2023
Cerebral cavernous malformation2Apr 16, 2025
Charcot-Marie-Tooth disease dominant intermediate B1Mar 10, 2025
Childhood kidney Wilms tumor1Mar 12, 2025
Cholestasis, intrahepatic, of pregnancy, 31Apr 16, 2025
Coffin-Lowry syndrome1Mar 15, 2025
Collagen IV-related nephropathies1Mar 13, 2025
Cone-rod synaptic disorder, congenital nonprogressive1Mar 13, 2025
Congenital diaphragamitc hernia1Mar 17, 2025
Congenital heart anomalies1Mar 14, 2025
Congenital myopathy1Mar 13, 2025
Congenital myotonia, autosomal dominant form1Sep 10, 2024
Connective and Soft Tissue Disorder1Mar 18, 2025
Constipation1Mar 15, 2025
Coronary artery dissection1Mar 6, 2025
Dandy-Walker malformation1Mar 17, 2025
Delayed speech and language development1Mar 4, 2025
Dementia1Mar 13, 2025
Developmental and epileptic encephalopathy 941Apr 16, 2025
Developmental and epileptic encephalopathy, 11Dec 12, 2024
Developmental and epileptic encephalopathy, 191May 10, 2023
Developmental and epileptic encephalopathy, 871Apr 25, 2024
Developmental delay2Mar 14, 2025
Diamond-Blackfan anemia 101Dec 12, 2024
Dilated cardiomyopathy 1G1Dec 12, 2024
Disorder of sexual differentiation2Mar 16, 2025
Duchenne muscular dystrophy1Mar 7, 2025
Dysarthria1Mar 19, 2025
Epidermolysis bullosa3Mar 19, 2025
Erythrocytosis, familial, 31Apr 16, 2025
Fabry disease1Apr 16, 2025
Fabry disease, cardiac variant1Mar 12, 2025
Factor XIII, A subunit, deficiency of1Nov 12, 2024
Failure to thrive1Mar 16, 2025
Familial Mediterranean fever1Jan 20, 2025
Familial adenomatous polyposis 11Oct 4, 2024
Familial aortopathy1Mar 16, 2025
Familial cystic renal disease3Mar 18, 2025
Familial hypercholesterolemia2Apr 16, 2025
Familial hypocalciuric hypercalcemia1Mar 11, 2025
Familial hypocalciuric hypercalcemia 31Oct 23, 2024
Familial melanoma1Sep 13, 2024
Feingold syndrome1Feb 17, 2025
Fetal anomaly1Mar 18, 2025
Frontotemporal dementia1Mar 12, 2025
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Mar 31, 2025
Galloway-Mowat syndrome 61Mar 26, 2025
Glucocorticoid deficiency with achalasia1Nov 29, 2024
HTRA1-related autosomal dominant cerebral small vessel disease1Aug 25, 2023
Hearing impairment1Mar 18, 2025
Hearing loss1Mar 12, 2025
Heart failure3Mar 18, 2025
Hereditary breast ovarian cancer syndrome1Mar 13, 2025
Hereditary combined deficiency of vitamin K-dependent clotting factors1Mar 21, 2025
Hereditary hemorrhagic telangiectasia3Mar 12, 2025
Hereditary pulmonary alveolar proteinosis1Mar 19, 2025
Hereditary spastic paraplegia2Mar 13, 2025
Hereditary spastic paraplegia 301Apr 16, 2025
Hypercalcemia1Mar 13, 2025
Hypercholesterolemia3Mar 21, 2025
Hyperpigmentation of the skin1Mar 11, 2025
Hypertrophic cardiomyopathy4Mar 19, 2025
Hypertrophic cardiomyopathy 13Apr 16, 2025
Hypertrophic cardiomyopathy 41Nov 21, 2024
Hypertrophic cardiomyopathy 71Feb 21, 2025
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11Nov 12, 2024
Hypokalemia1Mar 12, 2025
Hypophosphatasia1Mar 11, 2025
Hypotonia4Mar 18, 2025
Hypotonia, ataxia, and delayed development syndrome1Feb 14, 2025
Idiopathic basal ganglia calcification 12Mar 24, 2025
Immunodeficiency-centromeric instability-facial anomalies syndrome 21Mar 19, 2025
Incidental Discovery6Apr 1, 2025
Intellectual disability2Mar 6, 2025
Intellectual disability, X-linked 1041Apr 16, 2025
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Sep 10, 2024
Intracranial hemorrhage1Mar 18, 2025
Ketotic hypoglycemia1Mar 15, 2025
Lactic acidosis1Mar 17, 2025
Leri-Weill dyschondrosteosis1Mar 12, 2025
Leukodystrophy1Mar 20, 2025
Lissencephaly1May 26, 2021
Long QT syndrome2Mar 16, 2025
Long QT syndrome 51Feb 7, 2025
Long fingers1Mar 10, 2025
Low phospholipid associated cholelithiasis1Apr 16, 2025
Lynch syndrome2Mar 4, 2025
Lynch syndrome 11Apr 15, 2025
Lynch syndrome 52Mar 13, 2025
Mandibulofacial dysostosis1Mar 19, 2025
Mandibulofacial dysostosis-microcephaly syndrome1Mar 7, 2025
Marfan syndrome4Apr 8, 2025
Megacolon1Mar 15, 2025
Metachromatic leukodystrophy1Mar 18, 2025
Mild global developmental delay1Mar 5, 2025
Motor delay2Mar 12, 2025
Mowat-Wilson syndrome1Apr 17, 2025
Multiple endocrine neoplasia, type 11Nov 26, 2024
Nephrocalcinosis1Mar 13, 2025
Nephrogenic diabetes insipidus2Mar 21, 2025
Nephrolithiasis/nephrocalcinosis1Mar 17, 2025
Neurodevelopmental abnormality31Mar 28, 2025
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language1Mar 18, 2025
Neurofibromatosis1Mar 15, 2025
Neurofibromatosis, type 13Apr 16, 2025
Neuronopathy, distal hereditary motor, autosomal recessive 91Mar 5, 2025
Noonan syndrome 31Nov 22, 2024
Noonan syndrome 71Jun 16, 2023
Ocular albinism1Mar 7, 2025
Odontohypophosphatasia1Mar 28, 2025
Optic atrophy1Mar 16, 2025
Osteogenesis imperfecta2Mar 13, 2025
Osteopetrosis4Mar 12, 2025
PTEN hamartoma tumor syndrome1Mar 14, 2025
Pancreatitis, chronic, susceptibility to1Mar 31, 2025
Paraganglioma2Mar 6, 2025
Paroxysmal atrial fibrillation1Dec 12, 2024
Pectus excavatum1Mar 10, 2025
Peroxisome biogenesis disorder 4A (Zellweger)1Mar 26, 2025
Perry syndrome1Feb 17, 2025
Peutz-Jeghers syndrome1Sep 19, 2024
Pheochromocytoma1Feb 4, 2025
Polycystic kidney disease5Mar 25, 2025
Polycystic kidney disease, adult type1Mar 12, 2025
Primary ciliary dyskinesia1Mar 12, 2025
Primary ciliary dyskinesia 72Mar 11, 2025
Primary dilated cardiomyopathy5Apr 16, 2025
Primary familial hypertrophic cardiomyopathy4Mar 20, 2025
Primary hyperparathyroidism1Mar 18, 2025
Progressive muscle weakness1Mar 13, 2025
Proportionate tall stature1Mar 10, 2025
Protein S deficiency disease1Mar 12, 2025
Proteinuria1Mar 16, 2025
Ptosis1Mar 17, 2025
Recurrent fever1Sep 6, 2023
Rhabdomyoma1Mar 12, 2025
Seizure5Mar 18, 2025
Short stature4Mar 20, 2025
Situs inversus2Mar 27, 2025
Smith-Magenis syndrome1Mar 12, 2025
Spastic diplegia1Mar 12, 2025
Spastic paraparesis3Mar 20, 2025
Spasticity3Mar 19, 2025
Spherocytosis1Mar 13, 2025
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant1Feb 10, 2025
Tall stature2Mar 16, 2025
Telangiectasia1Mar 13, 2025
Tuberous sclerosis syndrome2Mar 16, 2025
Ventricular septal defect1Apr 17, 2025
Ventricular tachycardia2Mar 21, 2025
Williams syndrome1Jun 16, 2023
Xeroderma pigmentosum1Mar 26, 2025
not provided3214Dec 20, 2024
not specified6Aug 15, 2024