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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: 3907

Gene

GeneSubmissionsLast Updated
AAAS2Nov 29, 2024
AAGAB1Aug 15, 2024
AARS12Aug 15, 2024
ABCA32Mar 19, 2025
ABCA42Aug 15, 2024
ABCB111Aug 15, 2024
ABCB41Apr 16, 2025
ABCC21Aug 15, 2024
ABCC68Aug 15, 2024
ABCC93Aug 15, 2024
ABCD13Sep 2, 2025
ABL12Aug 15, 2024
ACADM1Aug 15, 2024
ACADS1Aug 15, 2024
ACADVL5Mar 11, 2026
ACAN3Aug 15, 2024
ACAT11Aug 15, 2024
ACSL42Aug 15, 2024
ACTA12Feb 16, 2026
ACTA21Aug 15, 2024
ACTA2-AS11Aug 15, 2024
ACTB3Jun 26, 2025
ACTC13Jul 8, 2025
ACTG21Mar 15, 2025
ACTL6B1Aug 15, 2024
ACTN25Mar 11, 2026
ACVR12Aug 15, 2024
ACVRL111Mar 11, 2026
ADA21Aug 15, 2024
ADAM221Aug 15, 2024
ADAMTS101Aug 15, 2024
ADAMTS181Jul 19, 2024
ADAMTS21Aug 15, 2024
ADAMTSL43Aug 15, 2024
ADAMTSL4-AS21Aug 15, 2024
ADAR1May 12, 2025
ADCY61Aug 15, 2024
ADGRG11Aug 15, 2024
ADGRV13Aug 15, 2024
ADNP6Sep 24, 2025
ADNP-AS11Aug 15, 2024
AFF21Aug 15, 2024
AFF31Aug 15, 2024
AFF41Aug 15, 2024
AGL2Aug 15, 2024
AGRN3Feb 11, 2026
AGXT2Feb 9, 2026
AHDC12Aug 15, 2024
AHI11Sep 2, 2025
AIMP11Aug 15, 2024
AIPL11Aug 15, 2024
AIRE3May 14, 2025
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
ALPK34May 14, 2025
ALPL7Mar 12, 2026
AMD11Apr 25, 2024
AMER11Aug 15, 2024
AMMECR11Mar 13, 2025
ANK11Mar 13, 2025
ANK27Aug 15, 2024
ANKRD119Jun 18, 2025
ANKRD261Aug 15, 2024
ANKS61Aug 15, 2024
ANO51Aug 15, 2024
ANOS11Aug 15, 2024
AOPEP1Aug 15, 2024
AP1G11Aug 15, 2024
AP2S12Jan 15, 2026
AP4S11Aug 15, 2024
AP5Z12Aug 15, 2024
APC24Jan 22, 2026
APC21Aug 15, 2024
APOA51Aug 15, 2024
APOB2Aug 15, 2024
APOE1Aug 15, 2024
APP1Aug 15, 2024
AR6Mar 16, 2025
ARFGEF11Aug 15, 2024
ARHGAP191Feb 13, 2026
ARHGAP19-SLIT11Feb 13, 2026
ARHGAP291Aug 15, 2024
ARHGEF101Aug 15, 2024
ARHGEF181Aug 15, 2024
ARHGEF91Apr 24, 2025
ARID1A2Aug 15, 2024
ARID1B6Jan 16, 2026
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
ASPM2Dec 12, 2025
ASXL13Aug 15, 2024
ASXL33Aug 15, 2024
ATAD3A2Aug 15, 2024
ATM41Mar 5, 2026
ATP1A13Dec 3, 2025
ATP1A1-AS12Mar 21, 2025
ATP1A23Aug 15, 2024
ATP1A33Nov 27, 2025
ATP2A14Aug 15, 2024
ATP2B11Aug 15, 2024
ATP2B31Aug 15, 2024
ATP6AP11Aug 15, 2024
ATP6AP21Aug 15, 2024
ATP6V0A21Aug 15, 2024
ATP6V0A41Jul 16, 2025
ATP6V1A2Dec 12, 2025
ATP6V1B11Dec 15, 2025
ATP6V1B21Aug 15, 2024
ATP6V1E11Aug 15, 2024
ATP7A1Aug 15, 2024
ATP7B1Aug 15, 2024
ATR1Aug 15, 2024
ATRX5Aug 15, 2024
ATXN72Aug 15, 2024
AUTS22Jun 24, 2025
AVIL1Aug 15, 2024
AVPR23Jul 7, 2025
AXIN11Aug 15, 2024
B4GALNT11Mar 17, 2025
BAG37Nov 3, 2025
BAP16Jun 24, 2025
BARD17Jul 9, 2025
BBS93Aug 15, 2024
BCHE2Aug 15, 2024
BCL2L2-PABPN11Aug 15, 2024
BCORL12Aug 15, 2024
BEAN11Aug 15, 2024
BEST11Nov 7, 2025
BGN3Aug 15, 2024
BICD21Aug 15, 2024
BICRA2Mar 12, 2026
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
BRCA1116Feb 18, 2026
BRCA2129Mar 11, 2026
BRIP18Aug 15, 2024
BRPF11Aug 15, 2024
BRWD33Aug 7, 2025
BSCL22Aug 15, 2024
BTK1Aug 15, 2024
BUD131Jul 25, 2025
C10orf1051Aug 15, 2024
C11orf6519Mar 5, 2026
C12orf572Mar 15, 2025
C19orf121Aug 15, 2024
C1R1Aug 15, 2024
C21Aug 15, 2024
C71Aug 15, 2024
C92Aug 15, 2024
CABP21Aug 15, 2024
CABP41Mar 13, 2025
CACNA1A8Mar 11, 2026
CACNA1C9Jul 4, 2025
CACNA1C-AS11Aug 15, 2024
CACNA1D3Aug 15, 2024
CACNA1E1Aug 15, 2024
CACNA1G4Dec 29, 2025
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
CAPN36Jul 16, 2025
CASD12Aug 15, 2024
CASK1Aug 15, 2024
CASK-AS11Aug 15, 2024
CASR10Jan 23, 2026
CAV31Aug 15, 2024
CBL3Aug 15, 2024
CBS1Aug 15, 2024
CC2D2A2Aug 15, 2024
CCDC221Jul 25, 2025
CCDC391Aug 15, 2024
CCDC402Aug 15, 2024
CCDC85C1Aug 15, 2024
CCDC88C1Aug 15, 2024
CCDST4Dec 17, 2025
CCM22Apr 16, 2025
CCN61Jan 21, 2026
CCND21Aug 15, 2024
CCNH3Sep 8, 2025
CCNK2Aug 15, 2024
CCNO1Aug 15, 2024
CD365Mar 12, 2025
CDH111Jan 8, 2026
CDH23Jul 22, 2025
CDH2-AS11Aug 15, 2024
CDH2311Aug 15, 2024
CDK101Aug 5, 2025
CDK133Mar 7, 2025
CDK191Apr 25, 2024
CDK81Aug 27, 2025
CDKL53Aug 15, 2024
CDKN1B3Nov 10, 2025
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
CFTR36Jan 28, 2026
CFTR-AS12Aug 15, 2024
CFTR-AS211Jan 28, 2026
CGNL11Aug 15, 2024
CHCHD101Aug 15, 2024
CHD13Mar 17, 2025
CHD24Jan 9, 2026
CHD31Aug 15, 2024
CHD43Aug 15, 2024
CHD52Mar 11, 2025
CHD79Jun 9, 2025
CHD84Oct 22, 2025
CHEK225Nov 25, 2025
CHM1Aug 15, 2024
CHMP1A1Aug 15, 2024
CHRND3Aug 15, 2024
CHRNE1Mar 17, 2025
CHRNG1Aug 15, 2024
CHST141Aug 15, 2024
CHST31Sep 3, 2025
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
CLTC4Mar 11, 2026
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
COCH-AS11Aug 15, 2024
COL11A12Aug 15, 2024
COL11A22Jun 12, 2025
COL12A15Aug 15, 2024
COL18A12Aug 15, 2024
COL1A113Mar 10, 2025
COL1A212Feb 5, 2026
COL2A18Aug 15, 2024
COL3A112Dec 29, 2025
COL4A15Aug 15, 2024
COL4A21Aug 15, 2024
COL4A36Nov 5, 2025
COL4A42Aug 15, 2024
COL4A513Jan 30, 2026
COL4A62Aug 15, 2024
COL5A17Aug 15, 2024
COL5A24Aug 15, 2024
COL6A13Aug 15, 2024
COL6A22Aug 15, 2024
COL6A37Aug 15, 2024
COL7A14Mar 16, 2025
COL9A12Mar 11, 2026
COL9A21Aug 15, 2024
COLQ1Jun 19, 2025
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
CSGALNACT11Aug 20, 2025
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
CYBA2Jan 15, 2026
CYFIP21Mar 11, 2026
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
DLG41Sep 11, 2025
DLL31Aug 15, 2024
DLST3Aug 15, 2024
DMD20Apr 10, 2025
DMXL27Aug 15, 2024
DNAAF111Aug 15, 2024
DNAH1110Mar 6, 2026
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
DRC12Dec 1, 2025
DROSHA2Aug 15, 2024
DRP21Aug 15, 2024
DSC24Aug 15, 2024
DSG29Feb 2, 2026
DSG2-AS14Dec 12, 2024
DSP11Jan 15, 2026
DST1Aug 15, 2024
DUOX21Aug 15, 2024
DYNC1H19May 6, 2025
DYRK1A2Aug 15, 2024
DYSF1Aug 15, 2024
EBF32Feb 14, 2025
EBP2Aug 15, 2024
ECEL12May 16, 2025
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
ELP12Jan 21, 2026
EME21Aug 15, 2024
ENG12Sep 17, 2025
EP3006Mar 16, 2025
EPAS12Apr 16, 2025
EPB41L11Aug 15, 2024
EPC11Aug 15, 2024
EPHB45Jul 10, 2025
ERCC21Mar 15, 2025
ERCC51Aug 15, 2024
ERCC64Jan 21, 2026
ERCC6L21Aug 15, 2024
ERCC81Aug 15, 2024
ERLIN21Mar 20, 2025
ESCO21Aug 15, 2024
ETHE11Jun 24, 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
F84Mar 13, 2026
F91Jan 30, 2026
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
FBN151Feb 13, 2026
FBN28Aug 15, 2024
FBXL52Aug 15, 2024
FBXO111Aug 15, 2024
FBXW71Aug 15, 2024
FCN31Aug 15, 2024
FCSK1Aug 15, 2024
FGB1Jul 7, 2025
FGD11Aug 15, 2024
FGD41Aug 15, 2024
FGF122Aug 15, 2024
FGF232Mar 20, 2025
FGF81Aug 15, 2024
FGFR14Aug 15, 2024
FGFR22Aug 15, 2024
FGFR39Aug 15, 2024
FH7Mar 11, 2026
FHOD34Aug 15, 2024
FIG42Aug 15, 2024
FKBP101Aug 15, 2024
FKRP1Aug 15, 2024
FLCN9Aug 15, 2024
FLG4Dec 17, 2025
FLNA6Jul 10, 2025
FLNB2Feb 19, 2026
FLNC20Jan 8, 2026
FLNC-AS16Aug 15, 2024
FLT42Dec 1, 2025
FMO32Aug 15, 2024
FMR11Aug 15, 2024
FN11Aug 15, 2024
FOXC11Aug 15, 2024
FOXC22Jul 17, 2025
FOXG11Aug 15, 2024
FOXN11Feb 10, 2025
FOXO11Aug 15, 2024
FOXP13Mar 11, 2025
FPGT-TNNI3K3Aug 15, 2024
FREM11Aug 15, 2024
FRMD4A1Aug 15, 2024
FRMPD42Apr 16, 2025
FTH11Nov 7, 2025
FTL2Aug 15, 2024
FUCA11Aug 15, 2024
FUS2May 9, 2025
FXN1Aug 15, 2024
FZD41Aug 15, 2024
G6PC12Dec 5, 2025
G6PD8Dec 4, 2025
GAA4Sep 17, 2025
GABRA12Aug 15, 2024
GAK1May 12, 2025
GALC3Sep 11, 2025
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
GCM21Dec 18, 2025
GDF11Aug 15, 2024
GEMIN52Aug 15, 2024
GFAP2Aug 15, 2024
GFI1B1Aug 25, 2025
GH-LCR5Jul 10, 2025
GH11Jul 10, 2025
GHSR1Aug 20, 2025
GIGYF11Mar 7, 2025
GJA81Aug 15, 2024
GJB13Aug 15, 2024
GJB29Dec 22, 2025
GJB31Aug 15, 2024
GJC21Aug 15, 2024
GJD2-DT3Jul 8, 2025
GLA10Sep 15, 2025
GLI21Aug 15, 2024
GLI31Jun 26, 2025
GLRA12Sep 2, 2025
GLRA21Nov 5, 2025
GLRB1Mar 6, 2025
GLUL1Aug 13, 2025
GNAL1Aug 15, 2024
GNAO11Aug 15, 2024
GNAS3Aug 15, 2024
GNB11Aug 15, 2024
GNB53Jun 12, 2025
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
GRN4Sep 30, 2025
H1-41Aug 15, 2024
HAAO1Aug 15, 2024
HADHB1Aug 15, 2024
HAX12Aug 15, 2024
HBA-LCR3Dec 3, 2025
HBB5Aug 15, 2024
HCN43Aug 15, 2024
HDAC41Aug 15, 2024
HDAC82Jan 26, 2026
HECW22Aug 15, 2024
HEXA1Aug 15, 2024
HEXB1Apr 25, 2025
HFE3Mar 5, 2025
HFE-AS11Aug 15, 2024
HIVEP23Aug 15, 2024
HJV1Aug 15, 2024
HMBS1Aug 7, 2025
HMGCR1Mar 21, 2025
HNF1B3Aug 15, 2024
HNRNPA11Jun 2, 2025
HNRNPH21Apr 16, 2025
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
HSPB12Oct 23, 2025
HSPD11Mar 20, 2025
HSPG21Aug 15, 2024
HTRA14May 26, 2025
HTT1Aug 15, 2024
HUWE13Jun 24, 2025
HYDIN2Aug 15, 2024
IARS21Aug 15, 2024
IDUA4Aug 15, 2024
IFIH12Apr 24, 2025
IFT1222Aug 15, 2024
IFT1401Jan 29, 2026
IFT1721Aug 15, 2024
IGF11Aug 15, 2024
IGF1R4Apr 24, 2025
IGSF11Aug 15, 2024
IHH1Mar 7, 2025
IL11RA1Aug 15, 2024
IL1RAPL12Aug 15, 2024
IL6ST1Aug 15, 2024
IMPG11Oct 17, 2025
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
KAT6A5Jun 17, 2025
KAT6B1Aug 15, 2024
KAT81Aug 15, 2024
KATNB11Aug 15, 2024
KATNIP1Aug 15, 2024
KCNA11Jan 27, 2026
KCNA21Aug 15, 2024
KCNA51Aug 15, 2024
KCNC11Aug 15, 2024
KCNC33Aug 15, 2024
KCND32Aug 15, 2024
KCNE11Feb 7, 2025
KCNE51Aug 15, 2024
KCNH12Mar 17, 2025
KCNH212Feb 11, 2026
KCNJ111Aug 15, 2024
KCNJ181Aug 15, 2024
KCNJ22Aug 15, 2024
KCNK41Aug 25, 2025
KCNK4-CATSPERZ1Aug 25, 2025
KCNN41Aug 15, 2024
KCNQ126Feb 13, 2026
KCNQ28Aug 15, 2024
KCNQ43Aug 15, 2024
KCNT13Jul 7, 2025
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
KIF1A5Apr 16, 2025
KIF1B1Jul 25, 2025
KIF20A1Aug 15, 2024
KIF21A1Mar 10, 2025
KIF21B1Aug 15, 2024
KIF2A1Feb 6, 2026
KIF5A5Jun 18, 2025
KIF5B1Dec 5, 2025
KIF5C2Aug 15, 2024
KIF73Aug 15, 2024
KISS1R1Aug 15, 2024
KIT2Aug 15, 2024
KLF121Aug 15, 2024
KLHL31Mar 11, 2026
KLHL401Aug 15, 2024
KMT2A5Aug 15, 2024
KMT2B1Aug 15, 2024
KMT2C1Aug 15, 2024
KMT2D8Mar 28, 2025
KMT2E3Jun 18, 2025
KNL11Aug 15, 2024
KRAS1Nov 22, 2024
KRIT14Mar 19, 2025
KRT12Aug 15, 2024
KRT142Mar 19, 2025
KRT171Aug 15, 2024
KRT54Jan 8, 2026
KRT6A1Aug 15, 2024
KRT6C1Aug 15, 2024
KRT811Aug 15, 2024
KRT861Aug 15, 2024
KRT91Aug 15, 2024
L1CAM1Aug 15, 2024
LAMA13Nov 26, 2025
LAMA21Aug 15, 2024
LAMA42Aug 15, 2024
LAMB11Aug 15, 2024
LAMB31Aug 15, 2024
LAMC31Aug 15, 2024
LAMP21Aug 15, 2024
LARGE11Aug 15, 2024
LARS12Aug 15, 2024
LARS23Jan 15, 2026
LARS2-AS12Jan 15, 2026
LBR1Aug 15, 2024
LDB35Aug 15, 2024
LDLR36Mar 11, 2026
LGI11Aug 15, 2024
LHX41Jul 10, 2025
LINC024561Aug 15, 2024
LITAF1Aug 15, 2024
LMNA19Dec 3, 2025
LMX1B2Aug 15, 2024
LOC1001316261Aug 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
LOC1116744726Jan 28, 2026
LOC1116744752Aug 15, 2024
LOC1118119651Apr 16, 2025
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
LOC1268058741May 12, 2025
LOC1268058771Dec 3, 2025
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USH2A13Mar 12, 2025
USH2A-AS22Aug 15, 2024
USP9X5Mar 11, 2026
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
WDR111Feb 13, 2026
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
ZEB24Apr 17, 2025
ZFHX31Feb 4, 2026
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
4-5 toe syndactyly1Aug 25, 2025
46,XY sex reversal 61Apr 23, 2025
8q24.3 microdeletion syndrome1Jan 30, 2026
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Sep 24, 2025
APC-Associated Polyposis Disorders1Jun 17, 2025
Abnormal aortic morphology1Mar 10, 2025
Abnormal cardiac output1Nov 19, 2025
Abnormal cardiac test1Nov 26, 2025
Abnormal cardiac ventricular function1Nov 26, 2025
Abnormal cerebral vascular morphology1Mar 19, 2025
Abnormal eye morphology1Aug 25, 2025
Abnormal optic nerve morphology1Mar 18, 2025
Abnormal palate morphology1Mar 10, 2025
Abnormality of eye movement1Mar 10, 2025
Abnormality of skin pigmentation1Jan 8, 2026
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
Absent or delayed speech development1Jun 17, 2025
Acute intermittent porphyria1Aug 7, 2025
Acute myeloid leukemia1Jul 14, 2025
Adrenoleukodystrophy1Sep 2, 2025
Adult hypophosphatasia1Mar 12, 2026
Aganglionic megacolon1Nov 24, 2025
Al Kaissi syndrome1Aug 5, 2025
Allergy1Jan 27, 2026
Alport syndrome3Jan 30, 2026
Alport syndrome 3b, autosomal recessive1Sep 11, 2025
Alzheimer disease1Jan 9, 2026
Amyloidosis, hereditary systemic 11Jul 23, 2025
Amyotrophic lateral sclerosis type 61May 9, 2025
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Dec 4, 2025
Aortic aneurysm1Mar 6, 2025
Aortic aneurysm, familial thoracic 121Apr 24, 2025
Aortic aneurysm, familial thoracic, SMAD3 related1Feb 13, 2026
Aortic dissection1May 14, 2025
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1Jan 15, 2026
Arrhythmogenic right ventricular cardiomyopathy3Feb 2, 2026
Arterial dissection1Jan 27, 2026
Ataxia4Mar 11, 2026
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2Nov 26, 2025
Ataxia-telangiectasia syndrome1Mar 5, 2026
Atrial septal defect 71Dec 3, 2025
Autism5Mar 11, 2026
Autoinflammatory syndrome1Mar 21, 2025
Autosomal dominant epilepsy1Dec 30, 2025
Autosomal dominant isolated somatotropin deficiency1Jul 10, 2025
Autosomal dominant polycystic kidney disease6Aug 25, 2025
Autosomal recessive distal renal tubular acidosis1Jul 16, 2025
Autosomal recessive limb-girdle muscular dystrophy1Mar 11, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2A1Jul 16, 2025
Autosomal recessive nonsyndromic hearing loss 1A2Dec 22, 2025
Autosomal recessive nonsyndromic hearing loss 221Dec 12, 2025
Autosomal recessive nonsyndromic hearing loss 84A1Oct 7, 2025
Autosomal recessive polycystic kidney disease2Aug 18, 2025
Avellino corneal dystrophy1Dec 5, 2025
BAP1-related tumor predisposition syndrome1Jun 24, 2025
BRCA2-related cancer predisposition1Nov 26, 2025
Balance problems1Jan 27, 2026
Basal cell nevi1Aug 25, 2025
Benign Rolandic epilepsy1Aug 25, 2025
Birt-Hogg-Dube syndrome1Nov 5, 2025
Blue rubber bleb nevus1Apr 17, 2025
Borderline microcephaly1Jun 17, 2025
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 16, 2025
Breast cancer, familial male1Jul 15, 2025
Breast cancer, susceptibility to2Jul 23, 2025
Breast-ovarian cancer, familial, susceptibility to, 11Dec 23, 2025
Breast-ovarian cancer, familial, susceptibility to, 25Aug 22, 2025
Breast-ovarian cancer, familial, susceptibility to, 52Nov 4, 2025
Brooke-Spiegler syndrome1Mar 10, 2025
Brugada syndrome1Dec 19, 2025
Brugada syndrome 11Mar 31, 2025
CACNA1A-related complex neurodevelopmental disorder1Sep 11, 2025
CDH1-related diffuse gastric and lobular breast cancer syndrome2Jan 8, 2026
CHARGE syndrome1Jun 9, 2025
CHEK2-related cancer predisposition1Sep 12, 2025
Cafe au lait spots, multiple1Jul 9, 2025
Calf muscle atrophy1Mar 21, 2025
Capillary malformation-arteriovenous malformation 11Sep 8, 2025
Capillary malformation-arteriovenous malformation syndrome1Jul 10, 2025
Carcinoma of colon2Aug 22, 2025
Cardiac arrhythmia2Dec 3, 2025
Cardiomyopathy8Mar 11, 2026
Cardiomyopathy, dilated, and heart failure1Jun 26, 2025
Cerebellar ataxia2Apr 30, 2025
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 13Jun 5, 2025
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21May 26, 2025
Cerebral calcification1May 12, 2025
Cerebral cavernous malformation3Jul 7, 2025
Charcot-Marie-Tooth disease dominant intermediate B1Mar 10, 2025
Charcot-Marie-Tooth disease type 2E1May 26, 2025
Charcot-Marie-Tooth disease, axonal, type 2KK1Feb 13, 2026
Charcot-Marie-tooth disease, axonal, type 2DD1Dec 3, 2025
Childhood kidney Wilms tumor1Mar 12, 2025
Childhood onset sensorineural hearing impairment1Mar 11, 2026
Cholestasis, intrahepatic, of pregnancy, 31Apr 16, 2025
Chromosome 3q29 microdeletion syndrome1Sep 12, 2025
Cleidocranial dysostosis1Jan 21, 2026
Coffin-Lowry syndrome1Mar 15, 2025
Coffin-Siris syndrome1Jan 16, 2026
Coffin-Siris syndrome 121Mar 12, 2026
Cognitive impairment1Sep 30, 2025
Collagen IV-related nephropathies1Mar 13, 2025
Colon cancer1Mar 11, 2026
Colorectal cancer2Jan 8, 2026
Complex cortical dysplasia with other brain malformations 11Sep 2, 2025
Cone-rod synaptic disorder, congenital nonprogressive1Mar 13, 2025
Congenital diaphragamitc hernia1Mar 17, 2025
Congenital disorder of deglycosylation 11Apr 24, 2025
Congenital heart anomalies2Jun 25, 2025
Congenital hydrocephalus1Dec 12, 2025
Congenital myasthenic syndrome1Jun 19, 2025
Congenital myopathy1Mar 13, 2025
Congenital myotonia, autosomal dominant form1Sep 10, 2024
Connective and Soft Tissue Disorder1Mar 18, 2025
Constipation1Mar 15, 2025
Constitutional mismatch repair deficiency syndrome1Oct 21, 2025
Cornelia de Lange syndrome 11Aug 20, 2025
Cornelia de Lange syndrome 51Jan 26, 2026
Coronary artery dissection1Mar 6, 2025
Cowden syndrome2Nov 14, 2025
Cutaneous leiomyoma1Jun 17, 2025
Cystinuria2Aug 8, 2025
Dandy-Walker malformation1Mar 17, 2025
Delayed speech and language development2Jan 15, 2026
Dementia1Mar 13, 2025
Developmental and epileptic encephalopathy 931Dec 12, 2025
Developmental and epileptic encephalopathy 942Jan 9, 2026
Developmental and epileptic encephalopathy, 11Dec 12, 2024
Developmental and epileptic encephalopathy, 142Jul 7, 2025
Developmental and epileptic encephalopathy, 191May 10, 2023
Developmental and epileptic encephalopathy, 41Sep 3, 2025
Developmental and epileptic encephalopathy, 81Apr 24, 2025
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Sep 2, 2025
Developmental and epileptic encephalopathy, 871Apr 25, 2024
Developmental delay4Aug 13, 2025
Diabetes insipidus, nephrogenic, X-linked1Jul 7, 2025
Diamond-Blackfan anemia 101Dec 12, 2024
Dilated cardiomyopathy 1A1Dec 3, 2025
Dilated cardiomyopathy 1DD1May 19, 2025
Dilated cardiomyopathy 1G6Dec 17, 2025
Dilated cardiomyopathy 1HH2Nov 3, 2025
Dilated cardiomyopathy 3B1Apr 10, 2025
Disorder of sexual differentiation2Mar 16, 2025
Distal arthrogryposis2May 16, 2025
Distal spinal muscular atrophy1Oct 23, 2025
Distichiasis-lymphedema syndrome1Jul 17, 2025
Disturbance in speech1Jan 27, 2026
Duchenne muscular dystrophy1Mar 7, 2025
Dysarthria1Mar 19, 2025
Dystonic disorder1Jun 26, 2025
Ehlers-Danlos syndrome1Jul 1, 2025
Epidermolysis bullosa3Mar 19, 2025
Epilepsy3Dec 3, 2025
Epilepsy with generalized tonic-clonic seizures1May 6, 2025
Episodic ataxia type 21Aug 19, 2025
Erythrocytosis, familial, 31Apr 16, 2025
Ethylmalonic encephalopathy1Jun 24, 2025
Ewing sarcoma1Jul 10, 2025
Fabry disease3Sep 8, 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 13Jan 22, 2026
Familial adenomatous polyposis 22Jan 22, 2026
Familial aortopathy1Mar 16, 2025
Familial cancer of breast8Mar 11, 2026
Familial cystic renal disease3Mar 18, 2025
Familial hypercholesterolemia7Mar 11, 2026
Familial hypocalciuric hypercalcemia2May 14, 2025
Familial hypocalciuric hypercalcemia 13Jan 23, 2026
Familial hypocalciuric hypercalcemia 31Oct 23, 2024
Familial hypokalemia-hypomagnesemia1Jun 24, 2025
Familial melanoma1Sep 13, 2024
Familial thoracic aortic aneurysm and aortic dissection1Oct 28, 2025
Feeding difficulties in infancy1Dec 5, 2025
Feingold syndrome1Feb 17, 2025
Fetal akinesia deformation sequence2Feb 11, 2026
Fetal anomaly1Mar 18, 2025
Frontotemporal dementia2May 12, 2025
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Mar 31, 2025
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1Sep 3, 2025
Gait ataxia2Jul 25, 2025
Galloway-Mowat syndrome 61Mar 26, 2025
Gastric adenocarcinoma and proximal polyposis of the stomach1Nov 6, 2025
Gastric cancer1Nov 21, 2025
Generalized hypotonia1Aug 18, 2025
Global developmental delay1Feb 6, 2026
Glucocorticoid deficiency with achalasia1Nov 29, 2024
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Dec 5, 2025
Glycogen storage disease, type II1Sep 17, 2025
Gnb5-related intellectual disability-cardiac arrhythmia syndrome1Jun 12, 2025
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1Jan 15, 2026
Greig cephalopolysyndactyly syndrome1Jun 26, 2025
Growth delay due to insulin-like growth factor I resistance1Apr 24, 2025
HTRA1-related autosomal dominant cerebral small vessel disease1Aug 25, 2023
Hearing impairment2Oct 3, 2025
Hearing loss1Mar 12, 2025
Heart failure5Jul 22, 2025
Heart, malformation of1Mar 16, 2025
Hereditary breast ovarian cancer syndrome6Feb 18, 2026
Hereditary cancer-predisposing syndrome6Jan 30, 2026
Hereditary combined deficiency of vitamin K-dependent clotting factors1Mar 21, 2025
Hereditary factor VIII deficiency disease1Jan 30, 2026
Hereditary hemorrhagic telangiectasia4Mar 11, 2026
Hereditary leiomyomatosis and renal cell cancer1Mar 11, 2026
Hereditary lymphedema type I1Dec 1, 2025
Hereditary pulmonary alveolar proteinosis1Mar 19, 2025
Hereditary spastic paraplegia2Mar 13, 2025
Hereditary spastic paraplegia 301Apr 16, 2025
Hypercalcemia1Mar 13, 2025
Hypercholesterolemia3Mar 21, 2025
Hypercholesterolemia, familial, 14Mar 11, 2026
Hyperekplexia 11Sep 2, 2025
Hyperlipidemia1Apr 30, 2025
Hyperpigmentation of the skin1Mar 11, 2025
Hypertrophic cardiomyopathy15Mar 11, 2026
Hypertrophic cardiomyopathy 15Dec 22, 2025
Hypertrophic cardiomyopathy 42Jan 16, 2026
Hypertrophic cardiomyopathy 71Feb 21, 2025
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11Nov 12, 2024
Hypogonadotropic hypogonadism 11 with or without anosmia2Jun 16, 2025
Hypogonadotropic hypogonadism 3 with or without anosmia1Apr 23, 2025
Hypokalemia1Mar 12, 2025
Hypoparathyroidism, familial isolated, 21Dec 18, 2025
Hypophosphatasia1Mar 11, 2025
Hypoplastic left heart syndrome1Nov 19, 2025
Hypotonia6Dec 5, 2025
Hypotonia, ataxia, and delayed development syndrome1Feb 14, 2025
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Nov 10, 2025
Ichthyosis vulgaris1Dec 17, 2025
Idiopathic basal ganglia calcification 12Mar 24, 2025
Idiopathic spontaneous coronary artery dissection1Dec 3, 2025
Immunodeficiency-centromeric instability-facial anomalies syndrome 21Mar 19, 2025
Incidental Discovery33Mar 11, 2026
Increased susceptibility to fractures1Nov 6, 2025
Intellectual developmental disorder with autism and macrocephaly1Oct 22, 2025
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Aug 27, 2025
Intellectual developmental disorder, autosomal recessive 781Feb 13, 2026
Intellectual disability10Mar 11, 2026
Intellectual disability, X-linked 1041Apr 16, 2025
Intellectual disability, X-linked 931Aug 7, 2025
Intellectual disability, autosomal dominant 561Mar 11, 2026
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Sep 10, 2024
Intention tremor1Jan 27, 2026
Interstitial lung disease 21Jan 16, 2026
Intestinal pseudo-obstruction1Oct 6, 2025
Intracranial hemorrhage1Mar 18, 2025
Joint hypermobility2Jan 9, 2026
Joint laxity1Jan 27, 2026
Ketotic hypoglycemia1Mar 15, 2025
Kidney failure4Sep 2, 2025
Lactic acidosis1Mar 17, 2025
Leri-Weill dyschondrosteosis1Mar 12, 2025
Leukodystrophy1Mar 20, 2025
Li-Fraumeni syndrome 11Sep 2, 2025
Limb ataxia2Jul 23, 2025
Limb muscle weakness1Nov 17, 2025
Lissencephaly1May 26, 2021
Lissencephaly 9 with complex brainstem malformation1Sep 11, 2025
Long QT syndrome4Jan 9, 2026
Long QT syndrome 11Jul 18, 2025
Long QT syndrome 21Feb 11, 2026
Long QT syndrome 51Feb 7, 2025
Long fingers1Mar 10, 2025
Low phospholipid associated cholelithiasis1Apr 16, 2025
Lynch syndrome6Dec 18, 2025
Lynch syndrome 13Nov 6, 2025
Lynch syndrome 41Nov 11, 2025
Lynch syndrome 52Mar 13, 2025
Macrocephaly at birth1Mar 10, 2026
Magnetic resonance imaging of brain abnormal1Jan 21, 2026
Malignant tumor of breast1May 27, 2025
Mandibulofacial dysostosis1Mar 19, 2025
Mandibulofacial dysostosis-microcephaly syndrome1Mar 7, 2025
Marfan syndrome8Feb 13, 2026
Medulloblastoma1Jan 21, 2026
Megacolon1Mar 15, 2025
Metachromatic leukodystrophy1Mar 18, 2025
Microcephaly 5, primary, autosomal recessive1Dec 12, 2025
Micrognathia1Dec 29, 2025
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Dec 17, 2025
Migraine, familial hemiplegic, 11Jan 20, 2026
Mild global developmental delay1Mar 5, 2025
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1Dec 30, 2025
Moderately severe hemophilia B1Jan 30, 2026
Motor delay4Jan 15, 2026
Motor neuron disease1Oct 17, 2025
Mowat-Wilson syndrome1Apr 17, 2025
Multiple endocrine neoplasia type 2A1May 6, 2025
Multiple endocrine neoplasia, type 12Aug 18, 2025
Muscular dystrophy, limb-girdle, autosomal dominant 41Jul 16, 2025
Myoclonus, intractable, neonatal1Jun 18, 2025
Myopathy2Mar 11, 2026
Myopathy, proximal, and ophthalmoplegia1Jun 9, 2025
Myopia1Nov 5, 2025
Nasal polyposis1Jan 28, 2026
Nephrocalcinosis1Mar 13, 2025
Nephrogenic diabetes insipidus2Mar 21, 2025
Nephrolithiasis/nephrocalcinosis1Mar 17, 2025
Neurodevelopmental abnormality31Sep 11, 2025
Neurodevelopmental delay1Feb 4, 2026
Neurodevelopmental disorder2Mar 13, 2026
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language1Mar 18, 2025
Neurofibromatosis1Mar 15, 2025
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1Nov 6, 2025
Neurofibromatosis, type 19Mar 11, 2026
Neuronal ceroid lipofuscinosis 21Dec 11, 2025
Neuronopathy, distal hereditary motor, autosomal recessive 91Mar 5, 2025
Niemann-Pick disease, type C21Jun 12, 2025
Noonan syndrome 11Jul 4, 2025
Noonan syndrome 31Nov 22, 2024
Noonan syndrome 71Jun 16, 2023
Nystagmus1Nov 27, 2025
Ocular albinism1Mar 7, 2025
Oculocutaneous albinism type 31Sep 8, 2025
Odontohypophosphatasia1Mar 28, 2025
Optic atrophy1Mar 16, 2025
Orofaciodigital syndrome I1Nov 25, 2025
Osteogenesis imperfecta2Mar 13, 2025
Osteogenesis imperfecta type I1Feb 5, 2026
Osteopetrosis4Mar 12, 2025
Osteoporosis2Jul 10, 2025
PCWH syndrome1Aug 13, 2025
PTEN hamartoma tumor syndrome3Aug 25, 2025
Pancreatitis, chronic, susceptibility to1Mar 31, 2025
Paraganglioma2Mar 6, 2025
Paroxysmal atrial fibrillation1Dec 12, 2024
Pectus excavatum2Jul 7, 2025
Peripheral neuropathy1Aug 4, 2025
Peroxisome biogenesis disorder 4A (Zellweger)1Mar 26, 2025
Perrault syndrome 42Jan 15, 2026
Perry syndrome1Feb 17, 2025
Peutz-Jeghers syndrome3Jan 22, 2026
Pheochromocytoma1Feb 4, 2025
Pheochromocytoma/paraganglioma syndrome 31Jul 10, 2025
Platelet-type bleeding disorder 171Aug 25, 2025
Polycystic kidney disease6Jan 29, 2026
Polycystic kidney disease 21Sep 3, 2025
Polycystic kidney disease, adult type6Sep 2, 2025
Polyglandular autoimmune syndrome, type 12May 14, 2025
Positive thumb sign1Jul 7, 2025
Primary ciliary dyskinesia4Dec 19, 2025
Primary ciliary dyskinesia 211Dec 1, 2025
Primary ciliary dyskinesia 301Nov 28, 2025
Primary ciliary dyskinesia 75Mar 6, 2026
Primary dilated cardiomyopathy12Feb 18, 2026
Primary familial hypertrophic cardiomyopathy4Mar 20, 2025
Primary hyperoxaluria1Sep 2, 2025
Primary hyperoxaluria, type I1Feb 9, 2026
Primary hyperparathyroidism2Nov 10, 2025
Progressive familial heart block, type 1A1Jan 23, 2026
Progressive muscle weakness1Mar 13, 2025
Progressive pseudorheumatoid dysplasia1Jan 21, 2026
Progressive spasticity1Jun 27, 2025
Proportionate tall stature1Mar 10, 2025
Protein S deficiency disease1Mar 12, 2025
Proteinuria1Mar 16, 2025
Pseudohypoaldosteronism type 2D1Mar 11, 2026
Ptosis1Mar 17, 2025
RAD51C-related cancer predisposition1Nov 25, 2025
Rauch-Steindl syndrome1Jun 5, 2025
Recurrent fever1Sep 6, 2023
Refractory epilepsy1Aug 13, 2025
Renal tubular acidosis with progressive nerve deafness2Dec 15, 2025
Rhabdomyoma1Mar 12, 2025
SATB2 associated disorder1Aug 6, 2025
Sandhoff disease1Apr 25, 2025
Seizure7Feb 16, 2026
Severe hemophilia A2Mar 13, 2026
Short stature6Feb 19, 2026
Situs inversus2Mar 27, 2025
Skeletal dysplasia2Jan 9, 2026
Skeletal dysplasia, mild, with joint laxity and advanced bone age1Aug 20, 2025
Slurred speech1Jul 7, 2025
Smith-Magenis syndrome1Mar 12, 2025
Sotos syndrome1Jan 15, 2026
Spastic diplegia1Mar 12, 2025
Spastic hemiparesis1Jun 27, 2025
Spastic paraparesis3Mar 20, 2025
Spastic paraplegia 85, autosomal recessive1Sep 11, 2025
Spasticity3Mar 19, 2025
Spermatogenic failure 801Apr 24, 2025
Spherocytosis1Mar 13, 2025
Spinocerebellar ataxia type 141Dec 18, 2025
Spinocerebellar ataxia type 422Dec 29, 2025
Spinocerebellar ataxia, autosomal recessive 332Nov 11, 2025
Spondyloepiphyseal dysplasia with congenital joint dislocations1Sep 3, 2025
Steroid-resistant nephrotic syndrome1Sep 15, 2025
Sudden cardiac death1May 27, 2025
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant1Feb 10, 2025
Tall stature4Jan 27, 2026
Telangiectasia1Mar 13, 2025
Telangiectasia, hereditary hemorrhagic, type 11Sep 17, 2025
Thoracic aortic aneurysm1Jan 27, 2026
Thrombophilia due to protein S deficiency, autosomal dominant1Nov 14, 2025
Thyroid hormone resistance, generalized, autosomal dominant1Oct 10, 2025
Triple-negative breast cancer2Apr 28, 2025
Tuberous sclerosis syndrome2Mar 16, 2025
Ventricular septal defect1Apr 17, 2025
Ventricular tachycardia2Mar 21, 2025
Vertigo1Jan 27, 2026
Williams syndrome1Jun 16, 2023
X-linked Alport syndrome4Dec 4, 2025
Xeroderma pigmentosum1Mar 26, 2025
not provided3204Dec 29, 2025
not specified7Dec 29, 2025