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Greenwood Genetic Center Diagnostic Laboratories (Greenwood Genetic Center)

General information

Greenwood Genetic Center Diagnostic Laboratories
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood
South Carolina
United States - 29646
https://www.ggc.org/diagnostic-lab
Organization ID: 1019

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 3920

Gene

GeneSubmissionsLast Updated
AAAS2May 26, 2023
AARS11Feb 10, 2022
AASS1Feb 10, 2022
ABCA11Feb 10, 2022
ABCA23Jan 18, 2023
ABCA31May 26, 2023
ABCB41Feb 2, 2024
ABCB62Feb 19, 2025
ABCC64Feb 19, 2025
ABCC83Feb 19, 2025
ABCC91Apr 11, 2022
ABCD13Feb 2, 2024
ABR1Oct 17, 2023
ACADM4Feb 19, 2025
ACADS2Aug 20, 2024
ACADVL4Aug 20, 2024
ACAN1Oct 17, 2023
ACAT11May 26, 2023
ACIN11May 9, 2024
ACOX13Feb 2, 2024
ACSF34May 9, 2024
ACSL43May 9, 2024
ACTA14Feb 19, 2025
ACTA23Aug 20, 2024
ACTA2-AS11Aug 20, 2024
ACTB2Jul 12, 2022
ACTG11Oct 14, 2022
ACVR11Feb 19, 2025
ACVRL13Oct 14, 2022
ADAM111May 9, 2024
ADAMTS131Feb 10, 2022
ADAMTSL11Jul 12, 2022
ADAMTSL22Feb 10, 2022
ADAR1Feb 19, 2025
ADARB11May 26, 2023
ADAT31Feb 10, 2022
ADCY21Oct 14, 2022
ADCY52Feb 19, 2025
ADGRB31Aug 20, 2024
ADGRL14May 9, 2024
ADGRL1-AS14May 9, 2024
ADGRV11Feb 10, 2022
ADNP7Feb 19, 2025
AFF22May 9, 2024
AFF31Feb 10, 2022
AFF46Feb 19, 2025
AFG2A1Feb 10, 2022
AGA2Jul 12, 2022
AGA-DT1Jul 12, 2022
AGAP21Oct 14, 2022
AGBL11Feb 10, 2022
AGL6Jul 17, 2023
AGO15Feb 19, 2025
AGO22Feb 19, 2025
AGO31Dec 18, 2020
AGTPBP11Dec 18, 2020
AHCTF11Feb 19, 2025
AHCY1Feb 10, 2022
AHDC14Feb 19, 2025
AIFM11Apr 13, 2021
AIMP11Feb 10, 2022
AIMP21Jan 18, 2023
AIRE2Aug 20, 2024
ALAD2Jan 18, 2023
ALDH18A12Jul 12, 2022
ALDH7A11Feb 10, 2022
ALDOB1Feb 10, 2022
ALG112Oct 14, 2022
ALG122Oct 17, 2023
ALG132Oct 14, 2022
ALG142May 9, 2024
ALG32Dec 18, 2020
ALG82Feb 2, 2024
ALKBH84Aug 20, 2024
ALPK11May 26, 2023
ALPL4Feb 19, 2025
ALX41Feb 10, 2022
AMER11Dec 18, 2020
AMIGO11Apr 11, 2022
AMPD12Feb 2, 2024
ANGPTL12May 9, 2024
ANK36Feb 19, 2025
ANKHD11May 9, 2024
ANKHD1-EIF4EBP31May 9, 2024
ANKRD1110Aug 20, 2024
ANKRD175Feb 2, 2024
ANKS4B1Oct 17, 2023
ANO102Feb 2, 2024
ANP32A1Apr 11, 2022
AP1G11Feb 19, 2025
AP1S12Feb 19, 2025
AP2S11Feb 19, 2025
AP4M12May 26, 2023
AP5S11Feb 2, 2024
AP5Z11May 26, 2023
APC2Feb 19, 2025
APC25Oct 17, 2023
APOB8Feb 19, 2025
APOE2Feb 19, 2025
AR1Feb 19, 2025
ARF11Feb 19, 2025
ARFGEF14May 9, 2024
ARHGAP313Feb 2, 2024
ARHGAP321Feb 19, 2025
ARHGAP351Dec 18, 2020
ARHGAP441Feb 2, 2024
ARID1A9Feb 19, 2025
ARID1B15Feb 19, 2025
ARID23Jul 17, 2023
ARID3A1May 26, 2023
ARID5B1Jul 12, 2022
ARL13B1Feb 10, 2022
ARL17A1Jul 12, 2022
ARL61Feb 19, 2025
ARMC81Feb 10, 2022
ARMCX5-GPRASP21May 9, 2024
ARPC41Aug 20, 2024
ARPC4-TTLL31Aug 20, 2024
ARSA2Aug 20, 2024
ARSL2May 9, 2024
ARV11Apr 11, 2022
ARX2Jul 17, 2023
ASH1L11Feb 19, 2025
ASIC32Jul 12, 2022
ASIC4-AS11Jul 17, 2023
ASL2May 26, 2023
ASPHD21May 9, 2024
ASPM4Jul 17, 2023
ASXL13Feb 19, 2025
ASXL26Feb 19, 2025
ASXL38Feb 19, 2025
ATG2A1Jul 17, 2023
ATIC2Oct 17, 2023
ATM10Aug 20, 2024
ATP10A1Feb 10, 2022
ATP1A23Feb 19, 2025
ATP1A32Jan 18, 2023
ATP2B12Oct 17, 2023
ATP2B23Aug 20, 2024
ATP2B31Apr 11, 2022
ATP2B41May 9, 2024
ATP6AP22Aug 20, 2024
ATP6V0A41Feb 10, 2022
ATP6V0C1Oct 14, 2022
ATP7A1Oct 14, 2022
ATP7B3Oct 17, 2023
ATP8B11Jan 18, 2023
ATP9A2Oct 17, 2023
ATRX8Feb 19, 2025
ATXN7L21Aug 20, 2024
ATXN7L3-AS12Aug 20, 2024
AUTS26May 9, 2024
AVIL1Aug 20, 2024
AXIN21Jul 17, 2023
B3GLCT1May 26, 2023
B9D11Feb 19, 2025
BACH21Jul 12, 2022
BAP11Oct 17, 2023
BAZ2B4Jul 17, 2023
BBS11Jul 12, 2022
BCL11A6May 9, 2024
BCL11B3Feb 19, 2025
BCOR3May 9, 2024
BCORL18Aug 20, 2024
BDP11Feb 19, 2025
BFSP11Aug 20, 2024
BICRA5Feb 19, 2025
BLM2Feb 19, 2025
BLTP13May 9, 2024
BMP41Oct 14, 2022
BMPER1Feb 19, 2025
BMPR22Oct 17, 2023
BNC21Jul 17, 2023
BOLA31Jul 12, 2022
BPTF5Feb 2, 2024
BRAF10Jan 18, 2023
BRAT17Feb 19, 2025
BRCA17Feb 19, 2025
BRCA212Feb 19, 2025
BRD41Feb 19, 2025
BRF14Apr 11, 2022
BRIP16Feb 19, 2025
BRPF14May 9, 2024
BRPF31Jul 17, 2023
BRSK21Oct 17, 2023
BRWD11Feb 19, 2025
BRWD35Feb 19, 2025
BSCL21Jul 12, 2022
BSN3Aug 20, 2024
BTD3Feb 19, 2025
BUB1B2Apr 11, 2022
BUB1B-PAK61Apr 11, 2022
C11orf653Jan 18, 2023
C17orf1072May 26, 2023
C1R2Oct 17, 2023
CABP41Oct 17, 2023
CACNA1A15Feb 19, 2025
CACNA1C4Aug 20, 2024
CACNA1C-AS12Aug 20, 2024
CACNA1D1Jan 18, 2023
CACNA1E3Aug 20, 2024
CACNA1F1Aug 20, 2024
CACNA1G1Aug 20, 2024
CACNA1I2Feb 19, 2025
CACNA2D23Jul 12, 2022
CACNG21Feb 2, 2024
CACNG31Feb 19, 2025
CAD3Feb 19, 2025
CAMK2B1Dec 18, 2020
CAMK2G1Aug 28, 2018
CAMSAP31Aug 20, 2024
CAMTA110Feb 19, 2025
CAMTA21Feb 19, 2025
CAPN32Aug 20, 2024
CASK4Aug 20, 2024
CASK-AS11Jul 12, 2022
CASR3May 9, 2024
CBL5Feb 19, 2025
CBS2Jan 18, 2023
CC2D1A4May 26, 2023
CC2D2A5Aug 20, 2024
CCDC1681Feb 19, 2025
CCDC222Jul 12, 2022
CCDC85C2Aug 20, 2024
CCDC88C2May 9, 2024
CCDST20Feb 19, 2025
CCND21Feb 19, 2025
CCND2-AS11Feb 19, 2025
CCNF1Nov 1, 2024
CCNH2Feb 19, 2025
CCNK2Aug 20, 2024
CD361Feb 19, 2025
CDAN12Feb 19, 2025
CDC421Oct 17, 2023
CDC42BPB6Feb 19, 2025
CDH111Jul 17, 2023
CDH131May 9, 2024
CDH151Jul 12, 2022
CDH21Jul 17, 2023
CDH231Feb 2, 2024
CDK133Feb 19, 2025
CDK161Jul 12, 2022
CDK191Feb 19, 2025
CDK83Oct 17, 2023
CDKL51Jul 17, 2023
CDKN1C2Feb 19, 2025
CDON1Feb 10, 2022
CECR21Jul 12, 2022
CELF22Aug 20, 2024
CELF2-AS11Feb 10, 2022
CELF31Dec 18, 2020
CELF41Jul 17, 2023
CEP1921Aug 20, 2024
CEP2904Jul 12, 2022
CEP85L1Feb 19, 2025
CERT11Jan 18, 2023
CFAP1442Oct 14, 2022
CFAP531Feb 19, 2025
CFTR13Feb 19, 2025
CFTR-AS14Feb 19, 2025
CHAMP15Jan 18, 2023
CHD15Feb 19, 2025
CHD23Feb 19, 2025
CHD312Feb 19, 2025
CHD410Aug 20, 2024
CHD53Feb 2, 2024
CHD61Feb 10, 2022
CHD712Feb 19, 2025
CHD87Feb 19, 2025
CHEK28May 9, 2024
CHMP1A1Feb 2, 2024
CHRNA11Feb 19, 2025
CHRNE3May 26, 2023
CIC6Feb 2, 2024
CKAP2L1May 9, 2024
CKAP51Feb 19, 2025
CLCN18May 9, 2024
CLCN33Feb 2, 2024
CLCN44Feb 19, 2025
CLCN51Feb 10, 2022
CLCN62Oct 17, 2023
CLCN72Feb 19, 2025
CLCNKB2Dec 18, 2020
CLDN141Feb 19, 2025
CLDN14-AS11Feb 19, 2025
CLIC21Apr 11, 2022
CLIP23Feb 19, 2025
CLN62Aug 7, 2020
CLN82Jan 18, 2023
CLTC8Feb 19, 2025
CNKSR22May 9, 2024
CNOT17Oct 17, 2023
CNOT31Jul 17, 2023
CNPY3-GNMT2Feb 10, 2022
CNTN61Apr 11, 2022
CNTNAP11Feb 19, 2025
CNTNAP24Feb 2, 2024
CNTNAP52Feb 2, 2024
COASY1Jul 12, 2022
COG51Feb 10, 2022
COG62Feb 19, 2025
COL10A11May 9, 2024
COL11A11Jul 17, 2023
COL12A12Feb 19, 2025
COL17A12Oct 14, 2022
COL18A12Feb 10, 2022
COL1A17Feb 19, 2025
COL1A22Feb 19, 2025
COL2A110Feb 19, 2025
COL3A11Jul 17, 2023
COL4A16Feb 19, 2025
COL4A25Jan 18, 2023
COL4A2-AS11Feb 10, 2022
COL4A35Feb 19, 2025
COL4A46May 9, 2024
COL4A55Oct 17, 2023
COL5A12May 9, 2024
COL5A25Aug 20, 2024
COL6A23Jul 17, 2023
COL6A33Feb 19, 2025
COPA1May 9, 2024
COQ42Aug 20, 2024
COQ71May 26, 2023
COX101Dec 18, 2020
CPLANE11Feb 10, 2022
CRACR2A1Jul 12, 2022
CRB11Jul 17, 2023
CREBBP12Feb 19, 2025
CRIPTO1May 26, 2023
CRMP11Oct 14, 2022
CRNN1Oct 17, 2023
CRPPA2Jul 17, 2023
CRPPA-AS11Jul 17, 2023
CRTC21Feb 10, 2022
CRYAB1Aug 20, 2024
CRYBA11Feb 10, 2022
CSDE12Feb 10, 2022
CSF1R1Feb 10, 2022
CSMD11Oct 17, 2023
CSNK2A14Feb 19, 2025
CSNK2B3Feb 10, 2022
CSPP11Feb 10, 2022
CST61Feb 10, 2022
CTBP11Feb 10, 2022
CTCF6Feb 19, 2025
CTDP11Jul 12, 2022
CTDSPL22Jul 12, 2022
CTNNB13Feb 19, 2025
CTNND23Jul 17, 2023
CTNS1Oct 17, 2023
CTNS-AS11Oct 17, 2023
CTPS11Apr 11, 2022
CTXN2-AS11Feb 10, 2022
CUL11May 26, 2023
CUL32Feb 19, 2025
CUL4B5May 9, 2024
CUL74Jul 17, 2023
CUX13Aug 20, 2024
CUX22Jul 17, 2023
CYB561D22Jul 12, 2022
CYFIP23Aug 20, 2024
CYLD1Feb 10, 2022
CYP11A11Jul 17, 2023
CYP11B11Oct 17, 2023
CYP21A26Feb 2, 2024
CYP24A12May 9, 2024
CYP2U12Jul 12, 2022
CYP51A12Oct 17, 2023
DAB2IP1Feb 10, 2022
DAG11Feb 19, 2025
DAGLA1Feb 19, 2025
DARS11Feb 19, 2025
DBP1Feb 19, 2025
DBT1Feb 10, 2022
DCAF51Feb 19, 2025
DCC4Feb 2, 2024
DCDC21Oct 8, 2024
DCLRE1C1Feb 19, 2025
DCX1Feb 10, 2022
DDB12Oct 14, 2022
DDX238May 26, 2023
DDX3X6May 30, 2024
DDX421Oct 17, 2023
DDX61Jul 12, 2022
DEAF14Feb 19, 2025
DENND5B1Oct 14, 2022
DEPDC52Apr 11, 2022
DGKA1Feb 19, 2025
DHCR77Feb 19, 2025
DHDDS2Oct 17, 2023
DHPS2Jan 18, 2023
DHTKD11Oct 14, 2022
DHX161Oct 17, 2023
DHX301Aug 20, 2024
DHX371Feb 10, 2022
DHX92Feb 2, 2024
DIP2B1Oct 14, 2022
DLG36Oct 17, 2023
DLG44Oct 17, 2023
DLL15Jul 17, 2023
DLL32Jul 17, 2023
DMAP12Oct 14, 2022
DMD7Feb 19, 2025
DMXL21Feb 19, 2025
DNA21Feb 19, 2025
DNAAF51Aug 20, 2024
DNAH13Feb 19, 2025
DNAH111Oct 14, 2022
DNAH145May 9, 2024
DNAH52Apr 11, 2022
DNAI12May 26, 2023
DNAI21Aug 20, 2024
DNAJC61Apr 11, 2022
DNAJC91May 26, 2023
DNM1L1Feb 19, 2025
DNMT11Feb 10, 2022
DNMT3A5Feb 19, 2025
DOCK33Jul 17, 2023
DOCK61Apr 11, 2022
DOCK6-AS11Apr 11, 2022
DOHH1Jul 17, 2023
DONSON1Feb 10, 2022
DOT1L1Feb 10, 2022
DPF21Apr 11, 2022
DPH11Apr 11, 2022
DPM12Aug 20, 2024
DPP62Feb 19, 2025
DROSHA1Dec 18, 2020
DSG1-AS11Dec 18, 2020
DSG41Dec 18, 2020
DSP2Feb 19, 2025
DSPP1Oct 17, 2023
DST2Aug 20, 2024
DSTYK1May 9, 2024
DTHD11Oct 17, 2023
DUOX22Feb 19, 2025
DVL31May 9, 2024
DYNC1H113Feb 19, 2025
DYNC2H15May 26, 2023
DYRK1A14Feb 19, 2025
EBF11Jul 17, 2023
EBF32Aug 20, 2024
EBP1Apr 11, 2022
ECEL12Apr 11, 2022
EDA9Feb 19, 2025
EDAR2Feb 2, 2024
EDN31Aug 20, 2024
EDNRB1May 26, 2023
EDNRB-AS11May 26, 2023
EED1Feb 19, 2025
EEF1A23Feb 19, 2025
EFCAB72Feb 19, 2025
EFHC11May 9, 2024
EFHC21May 9, 2024
EFNB13Feb 19, 2025
EFTUD23Feb 19, 2025
EGR21Feb 10, 2022
EHMT17Feb 19, 2025
EHMT2-AS11Feb 10, 2022
EIF2AK21Jul 12, 2022
EIF2B51Feb 10, 2022
EIF2S31Oct 17, 2023
EIF3F3Feb 2, 2024
EIF4A21Oct 17, 2023
ELAVL31Jul 17, 2023
ELAVL41Feb 10, 2022
ELN1Jul 12, 2022
ELN-AS11Jul 12, 2022
ELP23Jul 17, 2023
ELP41Jan 18, 2023
EMC11Oct 17, 2023
EMC1-AS11Oct 17, 2023
EME21Feb 10, 2022
EMILIN11May 9, 2024
EML12May 9, 2024
EML61Oct 14, 2022
ENG3Jan 18, 2023
EP3004Aug 20, 2024
EP4004Oct 14, 2022
EPB41L12Feb 19, 2025
EPB41L4B1Jul 17, 2023
EPG52Feb 19, 2025
EPHB42Jan 18, 2023
EPRS14Aug 20, 2024
ERBB42Feb 19, 2025
ERCC11Feb 10, 2022
ERCC22Oct 14, 2022
ERCC62Jul 12, 2022
ERF3Oct 17, 2023
ESPN1Feb 10, 2022
ETFDH2Oct 14, 2022
EXOC21Feb 19, 2025
EXOC72Feb 2, 2024
EXOSC31Feb 10, 2022
EXT12Feb 19, 2025
EXT25Feb 19, 2025
EYA13May 9, 2024
EYS1Feb 2, 2024
EZH22Oct 14, 2022
F21Apr 11, 2022
F51Aug 20, 2024
F72Feb 10, 2022
F92Aug 20, 2024
FAH2Feb 10, 2022
FAM120A2Jan 18, 2023
FAM135B1May 26, 2023
FAM149B12May 26, 2023
FAM50A2Oct 14, 2022
FANCA1Feb 10, 2022
FANCG1Feb 10, 2022
FANCI1Jan 18, 2023
FARS21May 9, 2024
FARSB1Feb 10, 2022
FASN1Feb 10, 2022
FAT41Oct 14, 2022
FBLN51Feb 19, 2025
FBN111Feb 19, 2025
FBN23Aug 20, 2024
FBXL191May 9, 2024
FBXL43Jan 18, 2023
FBXO113Feb 19, 2025
FBXO311Feb 19, 2025
FBXO71Jan 18, 2023
FBXW111Feb 19, 2025
FBXW72May 9, 2024
FCSK1Jul 12, 2022
FEM1C1Jan 18, 2023
FGD12Jul 17, 2023
FGF121Feb 19, 2025
FGF131Jul 12, 2022
FGFR12Feb 19, 2025
FGFR24Aug 20, 2024
FGFR33May 9, 2024
FH3Feb 19, 2025
FIBCD12May 26, 2023
FIG43Feb 19, 2025
FKBP141Feb 10, 2022
FKBP14-AS11Feb 10, 2022
FLG18Feb 19, 2025
FLG22Feb 19, 2025
FLNA4Aug 20, 2024
FLNC1Feb 19, 2025
FLT41Feb 10, 2022
FNDC71Oct 14, 2022
FOXG12Feb 2, 2024
FOXL22Jul 17, 2023
FOXP16Feb 19, 2025
FOXP22Aug 20, 2024
FOXP42Aug 20, 2024
FOXRED12Feb 19, 2025
FRAS14Feb 19, 2025
FRMD52Feb 19, 2025
FRMD71May 26, 2023
FRMPD410Aug 20, 2024
FRYL1Feb 19, 2025
FTSJ11May 9, 2024
FZD21Aug 20, 2024
FZD41Aug 20, 2024
G6PC12Feb 19, 2025
G6PD2May 9, 2024
GAA3Oct 17, 2023
GABBR11Apr 11, 2022
GABBR23Aug 20, 2024
GABRA11Aug 20, 2024
GABRA21May 13, 2025
GABRA51Feb 10, 2022
GABRB31Feb 19, 2025
GABRE1Feb 10, 2022
GABRG22Feb 19, 2025
GALC2Jul 17, 2023
GALE3Jan 18, 2023
GALNS1Feb 10, 2022
GALNT111Feb 19, 2025
GALNT32Jul 17, 2023
GALT3Feb 19, 2025
GANAB1May 26, 2023
GAPVD11Feb 10, 2022
GAREM21Feb 10, 2022
GARS11Feb 10, 2022
GATA52Feb 19, 2025
GATA61Feb 10, 2022
GATAD2B5Oct 17, 2023
GBA13Aug 20, 2024
GBE11Feb 10, 2022
GBF11May 9, 2024
GCDH2Feb 19, 2025
GCLC1Feb 2, 2024
GCM21Feb 19, 2025
GDAP11Jul 12, 2022
GDF51Apr 11, 2022
GDF5-AS11Apr 11, 2022
GDI11May 9, 2024
GEMIN53May 9, 2024
GFM11Feb 10, 2022
GH-LCR3Feb 19, 2025
GHSR1Jan 18, 2023
GIGYF21Jan 18, 2023
GJA11Feb 10, 2022
GJB12Feb 2, 2024
GJB23Feb 19, 2025
GJC21May 26, 2023
GLB14Feb 19, 2025
GLDC2Oct 17, 2023
GLI22Oct 14, 2022
GLI31Jan 18, 2023
GLMN3Feb 19, 2025
GLRA11Feb 10, 2022
GLRA21Feb 19, 2025
GML1Oct 17, 2023
GNAO11Aug 20, 2024
GNAQ1Feb 19, 2025
GNAS5Aug 20, 2024
GNB14May 9, 2024
GNB52Feb 2, 2024
GNG31Jul 12, 2022
GNMT2Feb 10, 2022
GPAA11Aug 20, 2024
GPC32Oct 17, 2023
GPR1321May 9, 2024
GPR1431Oct 14, 2022
GPRASP11May 9, 2024
GPSM21Feb 10, 2022
GREB1L1May 26, 2023
GRIA12Sep 30, 2024
GRIA24Feb 2, 2024
GRIA36Feb 2, 2024
GRIA43Feb 19, 2025
GRID21Dec 18, 2020
GRIK24Feb 19, 2025
GRIN13Jul 12, 2022
GRIN2A5Jul 17, 2023
GRIN2B3Jul 17, 2023
GRIN2D1Jul 12, 2022
GRM11May 9, 2024
GRM71Feb 10, 2022
GUCY1A21May 9, 2024
GYG11Jul 17, 2023
H1-41Jul 17, 2023
H4C52May 9, 2024
HACE11Feb 10, 2022
HADHA2Feb 10, 2022
HADHB2Feb 19, 2025
HBB3Oct 14, 2022
HCFC11Feb 10, 2022
HCN13Oct 17, 2023
HCN41Oct 17, 2023
HDAC41Oct 17, 2023
HDAC51Feb 19, 2025
HDAC71Feb 19, 2025
HDAC81May 26, 2023
HDAC91Jul 12, 2022
HEATR5B2Jan 18, 2023
HECTD13Oct 17, 2023
HECTD41Jul 17, 2023
HECW24Oct 17, 2023
HEPHL12Dec 18, 2020
HERC14Feb 19, 2025
HERC26Oct 17, 2023
HEXB1Feb 2, 2024
HFE2Jul 12, 2022
HFE-AS11Apr 11, 2022
HIVEP28Feb 19, 2025
HLCS1Feb 10, 2022
HMCN22Feb 19, 2025
HMGXB31Apr 11, 2022
HMX31Feb 10, 2022
HNF4A1Feb 19, 2025
HNMT2Feb 2, 2024
HNRNPDL1Dec 18, 2020
HNRNPF1Jul 12, 2022
HNRNPH11Feb 19, 2025
HNRNPH22Feb 2, 2024
HNRNPL1Jul 17, 2023
HNRNPR1Jan 18, 2023
HNRNPU1Oct 17, 2023
HNRNPUL11Feb 2, 2024
HNRNPUL21Oct 14, 2022
HNRNPUL2-BSCL22Oct 14, 2022
HRAS1Jul 12, 2022
HS6ST21Oct 17, 2023
HSD17B31Jul 17, 2023
HSD17B3-AS11Jul 17, 2023
HSD17B43Jul 12, 2022
HSPA92Oct 17, 2023
HSPB11May 9, 2024
HSPG22Dec 18, 2020
HTT1Feb 19, 2025
HUWE116Feb 19, 2025
IARS11Jan 18, 2023
IDH12Oct 17, 2023
IDS2Feb 19, 2025
IDUA1Feb 10, 2022
IFNW11Feb 19, 2025
IGF1R2Feb 2, 2024
IKBKB1Feb 10, 2022
IL1RAPL16Oct 17, 2023
IL1RAPL21Jul 17, 2023
IL2RG1Apr 11, 2022
IMPG11Feb 10, 2022
INO801Feb 19, 2025
INO80-AS11Feb 19, 2025
INPP4B1Feb 19, 2025
INPP5E1Feb 2, 2024
INSR1Oct 14, 2022
INTS12Apr 11, 2022
INTS61Jul 12, 2022
INVS1Feb 10, 2022
IPO91Jul 17, 2023
IQGAP31Feb 10, 2022
IQSEC11Feb 10, 2022
IQSEC28Feb 19, 2025
IRF2BP21Apr 11, 2022
IRF2BPL7Feb 19, 2025
IRF31Feb 19, 2025
IRF61May 9, 2024
ITGA2B1Jan 18, 2023
ITGB41Jan 18, 2023
ITPA1Feb 10, 2022
ITPR12Feb 10, 2022
ITSN14Feb 19, 2025
IVD7Feb 19, 2025
JAG11Oct 14, 2022
JAKMIP11Feb 10, 2022
JAM31Feb 2, 2024
JARID22Feb 19, 2025
JMJD1C6Jul 17, 2023
JPH31Jan 18, 2023
KANSL12May 26, 2023
KARS11Jul 17, 2023
KAT52Jul 17, 2023
KAT6A8Aug 20, 2024
KAT6B3Aug 20, 2024
KAT81Jul 17, 2023
KATNAL21Feb 10, 2022
KATNIP1Feb 10, 2022
KCNA23Feb 2, 2024
KCNA31Feb 10, 2022
KCNB15Aug 20, 2024
KCNC11Jul 17, 2023
KCNH11May 26, 2023
KCNH22May 26, 2023
KCNH31Dec 18, 2020
KCNH41Jul 12, 2022
KCNH51Jan 18, 2023
KCNJ11Dec 10, 2020
KCNJ112Oct 17, 2023
KCNJ61Apr 11, 2022
KCNJ6-AS11Apr 11, 2022
KCNK92Feb 19, 2025
KCNMA12Jul 17, 2023
KCNN22Feb 19, 2025
KCNN33Jul 12, 2022
KCNQ15Feb 19, 2025
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SPAST2May 26, 2023
SPEG2Jul 17, 2023
SPEN9Feb 2, 2024
SPG111Feb 19, 2025
SPG75Feb 19, 2025
SPRED110Feb 19, 2025
SPTA11May 26, 2023
SPTAN110Feb 19, 2025
SPTB1Feb 19, 2025
SPTBN18Feb 19, 2025
SPTBN1-AS21Jul 12, 2022
SPTBN51Feb 2, 2024
SPTLC21Jul 12, 2022
SRCAP11Aug 20, 2024
SRGAP11Aug 20, 2024
SRPK31Feb 2, 2024
SRPX1Feb 10, 2022
SRRM24Feb 19, 2025
SRSF11Feb 10, 2022
SRSF71Feb 10, 2022
SS181Feb 10, 2022
STAB11Feb 19, 2025
STAC31Feb 19, 2025
STAG16Feb 19, 2025
STAG22May 9, 2024
STAP21Feb 19, 2025
STARD98Feb 19, 2025
STEEP11Oct 17, 2023
STIM11Dec 18, 2020
STK101Aug 20, 2024
STRA61Feb 10, 2022
STRN41Jul 17, 2023
STT3A2Jul 17, 2023
STX1A1Feb 19, 2025
STXBP15Feb 19, 2025
STXBP23May 9, 2024
SUMF13Jan 18, 2023
SUMO21Feb 19, 2025
SUPT16H3Feb 19, 2025
SURF12May 9, 2024
SUZ121Feb 10, 2022
SYN11Feb 19, 2025
SYNE16Jul 17, 2023
SYNGAP14Jul 17, 2023
SYNGAP1-AS14Jul 17, 2023
SYP1Feb 10, 2022
SYT11Oct 14, 2022
SYT21Aug 20, 2024
SZT25Jul 17, 2023
TAB22Jul 17, 2023
TAF110Feb 19, 2025
TAF41Feb 19, 2025
TANC26Aug 20, 2024
TAOK112Feb 19, 2025
TBCEL1Oct 17, 2023
TBCEL-TECTA2Oct 17, 2023
TBCK2Oct 14, 2022
TBK12Aug 20, 2024
TBL1XR13Jul 17, 2023
TBL1XR1-AS11May 26, 2023
TBR11Oct 17, 2023
TBX15Jul 12, 2022
TBX22Feb 19, 2025
TBX51May 26, 2023
TBXAS11May 9, 2024
TBXT1Feb 10, 2022
TCAP1Aug 20, 2024
TCF122Feb 2, 2024
TCF2010Feb 19, 2025
TCF44Feb 19, 2025
TCF7L21May 26, 2023
TCIRG13May 9, 2024
TCOF11Feb 10, 2022
TECPR22May 9, 2024
TECR1Oct 17, 2023
TECTA1Oct 17, 2023
TELO23May 9, 2024
TERT1Feb 10, 2022
TET310Aug 20, 2024
TFAP2A1Jan 18, 2023
TFAP2A-AS21Jan 18, 2023
TFAP2B1Feb 2, 2024
TFE34Feb 19, 2025
TFG1Jul 12, 2022
TG2Oct 17, 2023
TGDS1Feb 10, 2022
TGFB21Feb 19, 2025
TGFB33Feb 19, 2025
TGFBR22Feb 19, 2025
TGM51Feb 10, 2022
TH1May 9, 2024
THOC25Aug 20, 2024
THOC61Feb 19, 2025
THRB1Aug 20, 2024
TIAM11Jan 18, 2023
TIMM8A1Jul 12, 2022
TLK25Aug 20, 2024
TLN11May 9, 2024
TLR71Feb 19, 2025
TM9SF31Feb 10, 2022
TMCO11Feb 10, 2022
TMEM1641Dec 18, 2020
TMEM2151Feb 19, 2025
TMEM2401May 9, 2024
TMEM942May 26, 2023
TMLHE1Jan 18, 2023
TNC1Jan 18, 2023
TNFRSF13B2Jul 17, 2023
TNFRSF1A2Dec 20, 2024
TNFRSF91Oct 14, 2022
TNNT21Oct 14, 2022
TNPO31Feb 19, 2025
TNRC181Apr 11, 2022
TNRC6B10Feb 19, 2025
TNXB2Feb 19, 2025
TOE11Apr 11, 2022
TOGARAM12Jul 12, 2022
TOP2B1Dec 18, 2020
TOR1A2Feb 19, 2025
TP531Feb 2, 2024
TP53RK2Apr 11, 2022
TP633Feb 19, 2025
TPM21Jul 12, 2022
TPM31Feb 10, 2022
TPO2Jul 12, 2022
TPP11May 9, 2024
TRAF3IP12Feb 19, 2025
TRAF71Feb 19, 2025
TRAK12Feb 10, 2022
TRAK21Jul 12, 2022
TRAPPC102Oct 17, 2023
TRAPPC121Feb 2, 2024
TRAPPC41Jan 18, 2023
TRIM712Feb 19, 2025
TRIM83Feb 19, 2025
TRIO19Feb 19, 2025
TRIP128Feb 19, 2025
TRMT16Feb 19, 2025
TRPC11Feb 19, 2025
TRPM33Feb 19, 2025
TRPM71Jan 18, 2023
TRPS13Feb 2, 2024
TRPV42Feb 19, 2025
TRPV61Feb 10, 2022
TRRAP21Feb 19, 2025
TSC14Aug 20, 2024
TSC26Feb 19, 2025
TSEN21May 9, 2024
TSEN541Oct 22, 2024
TSHB1Jan 18, 2023
TSHR1Jul 17, 2023
TSHR-AS11Jul 17, 2023
TSPAN121Feb 10, 2022
TTC191Dec 18, 2020
TTC7A5Oct 14, 2022
TTN9Feb 19, 2025
TTN-AS13Feb 19, 2025
TUBA1A4Feb 19, 2025
TUBB2A1Feb 10, 2022
TUBB2B1Apr 11, 2022
TUBB34Feb 19, 2025
TUBG11Jul 12, 2022
TUSC31Oct 14, 2022
TWIST12May 9, 2024
TWNK1Jul 17, 2023
TYR4Feb 19, 2025
TYRP14Feb 10, 2022
UBA11Feb 2, 2024
UBE2A1Jul 12, 2022
UBE3A4Feb 2, 2024
UBE3B2Feb 10, 2022
UBE4A1May 26, 2023
UBE4B1Jul 17, 2023
UBR41Aug 20, 2024
UBTF2Aug 20, 2024
UCP31Apr 11, 2022
UGP22Jul 17, 2023
UGT1A1Jul 12, 2022
UGT1A11Jul 12, 2022
UGT1A101Jul 12, 2022
UGT1A31Jul 12, 2022
UGT1A41Jul 12, 2022
UGT1A51Jul 12, 2022
UGT1A61Jul 12, 2022
UGT1A71Jul 12, 2022
UGT1A81Jul 12, 2022
UGT1A91Jul 12, 2022
UMOD1Feb 10, 2022
UNC13A2Aug 20, 2024
UNC794Aug 20, 2024
UNC802Feb 19, 2025
UNK1Feb 10, 2022
UPF3B2Jul 12, 2022
UQCRC11Apr 11, 2022
URB11Jul 12, 2022
USH1C1Feb 10, 2022
USH2A8Aug 20, 2024
USH2A-AS11Dec 18, 2020
USH2A-AS22Aug 20, 2024
USP191Jan 18, 2023
USP72Feb 19, 2025
USP9X4Feb 19, 2025
UTP14C2Oct 14, 2022
UTP201Feb 19, 2025
VARS13Feb 19, 2025
VCP1Feb 10, 2022
VHL1Feb 10, 2022
VPS13B7Jan 18, 2023
VPS391Feb 2, 2024
VPS511Feb 10, 2022
VPS522Jul 12, 2022
VPS531Oct 14, 2022
VWF4Feb 19, 2025
WAC4May 9, 2024
WAS1Feb 19, 2025
WASF11Oct 14, 2022
WDFY310Aug 20, 2024
WDFY3-AS11Oct 14, 2022
WDR111Aug 20, 2024
WDR131Feb 19, 2025
WDR262Aug 20, 2024
WDR372Aug 20, 2024
WDR441Feb 10, 2022
WDR454May 9, 2024
WFS17Feb 2, 2024
WHRN1Feb 10, 2022
WNK32May 9, 2024
WNT10A6Feb 19, 2025
WNT10B1Feb 19, 2025
WT12May 26, 2023
WWC11May 9, 2024
WWOX2Feb 19, 2025
XKR61Oct 14, 2022
XYLT22Aug 20, 2024
YEATS21Feb 10, 2022
YY14Feb 19, 2025
YY1AP11May 9, 2024
YY22Feb 19, 2025
ZBTB112May 9, 2024
ZBTB182Oct 14, 2022
ZBTB47-AS11Feb 10, 2022
ZBTB7A1Jul 17, 2023
ZCCHC81Jan 18, 2023
ZDHHC151Aug 20, 2024
ZEB26Feb 19, 2025
ZFHX31Feb 19, 2025
ZFHX3-AS11Feb 19, 2025
ZFHX41May 26, 2023
ZFP281Aug 20, 2024
ZFR2May 9, 2024
ZFX1Feb 19, 2025
ZFYVE161Feb 19, 2025
ZFYVE261Feb 10, 2022
ZGRF11Aug 20, 2024
ZMIZ112May 9, 2024
ZMPSTE241Feb 19, 2025
ZMYM26Feb 19, 2025
ZMYM35Feb 19, 2025
ZMYND102May 9, 2024
ZMYND114Aug 20, 2024
ZMYND84Feb 19, 2025
ZNF1321Feb 19, 2025
ZNF1423Aug 20, 2024
ZNF1482May 9, 2024
ZNF2871Oct 14, 2022
ZNF29211Feb 19, 2025
ZNF3181Aug 20, 2024
ZNF324B1Feb 19, 2025
ZNF4072Feb 2, 2024
ZNF4628Feb 2, 2024
ZNF4695Feb 19, 2025
ZNF6871Oct 17, 2023
ZNF6993May 26, 2023
ZNF7112Feb 19, 2025
ZNF7741Feb 10, 2022
ZNF7771Jul 17, 2023
ZNF8001Aug 20, 2024
ZSWIM63Feb 19, 2025
ZSWIM81Oct 17, 2023
ZSWIM8-AS11Oct 17, 2023

Condition

NameSubmissionsLast Updated
3-methylcrotonyl-CoA carboxylase 1 deficiency2May 9, 2024
3-methylcrotonyl-CoA carboxylase 2 deficiency4Feb 19, 2025
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2Feb 19, 2025
3M syndrome 12Jul 17, 2023
3M syndrome 21Feb 2, 2024
ABCB4-related disorder1Feb 2, 2024
ABCC6-related disorder3Feb 19, 2025
ABCC8-related disorder1Feb 19, 2025
ACTA1-related disorder1Feb 19, 2025
ADCY5-related disorder1Oct 17, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Feb 10, 2022
ALDH18A1-related disorder1Jul 12, 2022
ALG8-related disorder1Feb 2, 2024
ALPL-related disorder1Feb 19, 2025
ANK3-related disorder1May 29, 2023
APOE-related disorder1Feb 19, 2025
ARL6-related disorder1Feb 19, 2025
ATM-related disorder2Aug 20, 2024
Absent or delayed speech development10Dec 12, 2014
Acral peeling skin syndrome1Feb 10, 2022
Actin accumulation myopathy1Feb 10, 2022
Acyl-CoA oxidase deficiency1Feb 2, 2024
Adams-Oliver syndrome 21Apr 11, 2022
Adrenoleukodystrophy3Feb 2, 2024
Adult hypophosphatasia2May 26, 2023
Aicardi-Goutieres syndrome 21Feb 10, 2022
Alagille syndrome due to a JAG1 point mutation1Oct 14, 2022
Alkuraya-Kucinskas syndrome1Feb 2, 2024
Allan-Herndon-Dudley syndrome1Feb 19, 2025
Alpha-1-antitrypsin deficiency2Jul 12, 2022
Alpha-N-acetylgalactosaminidase deficiency type 11Feb 10, 2022
Alpha-N-acetylgalactosaminidase deficiency type 21Feb 10, 2022
Alternating hemiplegia of childhood 11Feb 10, 2022
Alternating hemiplegia of childhood 22Jan 18, 2023
Amyotrophic neuralgia1May 9, 2024
Androgen resistance syndrome1Feb 19, 2025
Anemia, congenital dyserythropoietic, type 1a2Feb 19, 2025
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2May 9, 2024
Aneurysm-osteoarthritis syndrome1Feb 10, 2022
Angelman syndrome3Jul 12, 2022
Aniridia 11Oct 17, 2023
Anophthalmia/microphthalmia-esophageal atresia syndrome2Aug 20, 2024
Aortic aneurysm, familial thoracic 42May 26, 2023
Aortic aneurysm, familial thoracic 62Aug 20, 2024
Aortic valve disease 11Oct 17, 2023
Argininosuccinate lyase deficiency2May 26, 2023
Arrhythmogenic right ventricular dysplasia 81Feb 10, 2022
Arrhythmogenic right ventricular dysplasia 94May 9, 2024
Asphyxiating thoracic dystrophy 31Jul 12, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Feb 2, 2024
Ataxia-telangiectasia syndrome2Oct 14, 2022
Atrial fibrillation, familial, 31Feb 10, 2022
Autism1Aug 28, 2018
Autism spectrum disorder due to AUTS2 deficiency1Jan 18, 2023
Autism, susceptibility to, 172Apr 11, 2022
Autosomal dominant Alport syndrome1Feb 10, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2Feb 10, 2022
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2Aug 20, 2024
Autosomal dominant omodysplasia1Aug 20, 2024
Autosomal dominant osteopetrosis 21Feb 10, 2022
Autosomal recessive Alport syndrome3May 9, 2024
Autosomal recessive DOPA responsive dystonia1May 9, 2024
Autosomal recessive hypophosphatemic bone disease1May 26, 2023
Autosomal recessive nonsyndromic hearing loss 291Feb 19, 2025
Autosomal recessive nonsyndromic hearing loss 371Jan 18, 2023
Autosomal recessive nonsyndromic hearing loss 43Feb 10, 2022
Autosomal recessive nonsyndromic hearing loss 91Feb 10, 2022
Autosomal recessive osteopetrosis 12May 9, 2024
Autosomal recessive osteopetrosis 41Feb 10, 2022
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201Feb 2, 2024
BRAT1-related disorder1Feb 19, 2025
BRCA1-related disorder1May 9, 2024
BRCA2-related disorder2Feb 19, 2025
Bailey-Bloch congenital myopathy1Feb 19, 2025
Band heterotopia of brain1Oct 14, 2022
Baraitser-Winter syndrome 11Feb 10, 2022
Bardet-Biedl syndrome 11Jul 12, 2022
Bardet-Biedl syndrome 141Feb 10, 2022
Bardet-Biedl syndrome 161Jul 12, 2022
Bartter disease type 21Dec 10, 2020
Beck-Fahrner syndrome1Apr 11, 2022
Becker muscular dystrophy1Feb 2, 2024
Benign familial hematuria1May 26, 2023
Bent bone dysplasia syndrome 11Oct 14, 2022
Bifunctional peroxisomal enzyme deficiency2Jul 12, 2022
Biotinidase deficiency2Feb 19, 2025
Blepharophimosis, ptosis, and epicanthus inversus syndrome2Jul 17, 2023
Bloom syndrome2Feb 19, 2025
Bohring-Opitz syndrome1Feb 10, 2022
Bone marrow failure syndrome 41Jan 18, 2023
Bosch-Boonstra-Schaaf optic atrophy syndrome2Oct 17, 2023
Brain malformations with or without urinary tract defects1Oct 17, 2023
Brain small vessel disease 1 with or without ocular anomalies1Feb 10, 2022
Branchiootorenal syndrome 11May 9, 2024
Breast-ovarian cancer, familial, susceptibility to, 15Feb 19, 2025
Breast-ovarian cancer, familial, susceptibility to, 24May 9, 2024
Breast-ovarian cancer, familial, susceptibility to, 32Feb 19, 2025
Breast-ovarian cancer, familial, susceptibility to, 42May 9, 2024
Brittle cornea syndrome 11Jul 17, 2023
Brooke-Spiegler syndrome1Feb 10, 2022
Brown-Vialetto-van Laere syndrome 21May 26, 2023
Brugada syndrome 11Jul 17, 2023
CACNA1A-associated disorder1Jul 17, 2023
CACNA1A-related disorder5Feb 19, 2025
CACNA1C-related disorder1Oct 17, 2023
CASR-related disorder1May 9, 2024
CBL-related disorder3Oct 17, 2023
CDH23-related disorder1Feb 2, 2024
CFTR-related disorder1Feb 19, 2025
CHARGE syndrome5Feb 19, 2025
CHD7-related disorder2May 9, 2024
CHEK2-related cancer predisposition4May 9, 2024
CHEK2-related disorder1Jan 18, 2023
CHRNE-related disorder1May 26, 2023
CLCN1-related disorder1Oct 14, 2022
CLCN7-related disorder1Feb 19, 2025
CLN8-related disorder1Oct 14, 2022
CNOT1-related disorder1Oct 14, 2022
CNTNAP1-related disorder1Feb 19, 2025
COACH syndrome 22Feb 10, 2022
COG5-congenital disorder of glycosylation1Feb 10, 2022
COG6-related disorder1Feb 19, 2025
COL11A1-related disorder1Jul 17, 2023
COL1A1-related disorder2Feb 19, 2025
COL1A2-related disorder1Feb 2, 2024
COL2A1-related disorder1Feb 19, 2025
COL4A1-related disorder2Feb 19, 2025
COL4A2-related disorder1Jan 18, 2023
COL4A4-related disorder1Jul 12, 2022
COL6A2-related disorder1Jul 17, 2023
COL6A3-related disorder1Feb 19, 2025
COQ4-related disorder1Aug 20, 2024
CRB1-related disorder1Jul 17, 2023
CRPPA-related disorder1Jul 17, 2023
CRYAB-related disorder1Aug 20, 2024
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Feb 10, 2022
Cardiac valvular defect, developmental1May 9, 2024
Cardiac, facial, and digital anomalies with developmental delay1Feb 19, 2025
Cardiofaciocutaneous syndrome 21May 9, 2024
Cataract 10 multiple types1Feb 10, 2022
Cataract 15 multiple types2Jul 12, 2022
Central core myopathy2Aug 20, 2024
Cerebellar atrophy with seizures and variable developmental delay1Jul 12, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;1Oct 17, 2023
Cerebellar dysfunction with variable cognitive and behavioral abnormalities3Jul 17, 2023
Cerebral cavernous malformation2Oct 17, 2023
Cerebral cavernous malformation 32Feb 2, 2024
Char syndrome1Feb 2, 2024
Charcot-Marie-Tooth disease X-linked dominant 12Feb 2, 2024
Charcot-Marie-Tooth disease axonal type 2O2May 26, 2023
Charcot-Marie-Tooth disease type 2B21Feb 10, 2022
Charcot-Marie-Tooth disease type 4C2May 9, 2024
Childhood apraxia of speech1Aug 20, 2024
Childhood hypophosphatasia1Feb 10, 2022
Childhood onset GLUT1 deficiency syndrome 21Feb 10, 2022
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Aug 20, 2024
Chilton-Okur-Chung neurodevelopmental syndrome1Oct 17, 2023
Chitayat syndrome1Feb 10, 2022
Chromosome 2q32-q33 deletion syndrome2May 26, 2023
Chudley-McCullough syndrome1Feb 10, 2022
Clark-Baraitser syndrome2Jul 12, 2022
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency3Feb 2, 2024
Classic homocystinuria1Jan 18, 2023
Cleidocranial dysostosis1Aug 20, 2024
Coffin-Lowry syndrome1May 26, 2023
Coffin-Siris syndrome 18Feb 19, 2025
Coffin-Siris syndrome 111Feb 19, 2025
Coffin-Siris syndrome 122Feb 19, 2025
Coffin-Siris syndrome 61Oct 14, 2022
Coffin-Siris syndrome 71Apr 11, 2022
Coffin-Siris syndrome 81Feb 10, 2022
Cognitive impairment with or without cerebellar ataxia1Feb 10, 2022
Cohen syndrome4Jan 18, 2023
Cohen-Gibson syndrome1Feb 19, 2025
Colorectal cancer1Feb 10, 2022
Combined malonic and methylmalonic acidemia2May 9, 2024
Combined oxidative phosphorylation deficiency 321Feb 10, 2022
Combined oxidative phosphorylation deficiency 511May 9, 2024
Complex cortical dysplasia with other brain malformations 41Jul 12, 2022
Complex cortical dysplasia with other brain malformations 71Apr 11, 2022
Cone-rod synaptic disorder, congenital nonprogressive1Oct 17, 2023
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1Jul 17, 2023
Congenital anomalies of kidney and urinary tract 11May 9, 2024
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Oct 14, 2022
Congenital contractural arachnodactyly1Aug 20, 2024
Congenital contractures of the limbs and face, hypotonia, and developmental delay2May 26, 2023
Congenital disorder of deglycosylation 11Jan 18, 2023
Congenital disorder of glycosylation with defective fucosylation 21Jul 12, 2022
Congenital disorder of glycosylation, type Iw, autosomal dominant1Jul 12, 2022
Congenital heart defects, multiple types, 21May 26, 2023
Congenital multicore myopathy with external ophthalmoplegia1Aug 20, 2024
Congenital muscular hypertrophy-cerebral syndrome1Oct 17, 2023
Congenital myasthenic syndrome 4A1Apr 11, 2022
Congenital myasthenic syndrome 4B1Apr 11, 2022
Congenital myasthenic syndrome 4C1Apr 11, 2022
Congenital myasthenic syndrome 71Aug 20, 2024
Congenital myopathy with fiber type disproportion1Feb 10, 2022
Congenital myotonia, autosomal dominant form1May 9, 2024
Congenital myotonia, autosomal recessive form4Jul 17, 2023
Cornelia de Lange syndrome 11Feb 10, 2022
Cornelia de Lange syndrome 31Apr 11, 2022
Costello syndrome1Jul 12, 2022
Cowden syndrome 13May 26, 2023
Craniofrontonasal syndrome3Feb 19, 2025
Craniosynostosis 41Feb 10, 2022
Creatine transporter deficiency3Feb 19, 2025
Cystic fibrosis5Feb 2, 2024
DAG1-related disorder1Feb 19, 2025
DCDC2-related disorder1Oct 8, 2024
DCLRE1C-related disorder1Feb 19, 2025
DMXL2-related disorder1Feb 19, 2025
DNA ligase IV deficiency1Feb 2, 2024
DNAH1-related disorder1Feb 19, 2025
DSP-related disorder1Feb 19, 2025
DSPP-related disorder1Oct 17, 2023
DST-related disorder1Aug 20, 2024
DYNC1H1-related disorder2Feb 19, 2025
DeSanto-Shinawi syndrome due to WAC point mutation2Jul 12, 2022
Deeah syndrome2Feb 10, 2022
Deeply set eye10Dec 12, 2014
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2Feb 10, 2022
Deficiency of acetyl-CoA acetyltransferase1May 26, 2023
Deficiency of alpha-mannosidase3Feb 2, 2024
Deficiency of butyryl-CoA dehydrogenase1Aug 20, 2024
Deficiency of iodide peroxidase2Jul 12, 2022
Deficiency of steroid 11-beta-monooxygenase1Oct 17, 2023
Dent disease type 11Feb 10, 2022
Dermatofibrosis lenticularis disseminata1Feb 10, 2022
Developmental and epileptic encephalopathy 6B1Feb 10, 2022
Developmental and epileptic encephalopathy 912May 26, 2023
Developmental and epileptic encephalopathy 941Feb 19, 2025
Developmental and epileptic encephalopathy 972Aug 20, 2024
Developmental and epileptic encephalopathy, 111Oct 17, 2023
Developmental and epileptic encephalopathy, 131Feb 10, 2022
Developmental and epileptic encephalopathy, 182Jul 17, 2023
Developmental and epileptic encephalopathy, 251Apr 11, 2022
Developmental and epileptic encephalopathy, 262Aug 20, 2024
Developmental and epileptic encephalopathy, 301Jul 12, 2022
Developmental and epileptic encephalopathy, 321Oct 14, 2022
Developmental and epileptic encephalopathy, 351Feb 10, 2022
Developmental and epileptic encephalopathy, 381Apr 11, 2022
Developmental and epileptic encephalopathy, 44Feb 19, 2025
Developmental and epileptic encephalopathy, 422Feb 19, 2025
Developmental and epileptic encephalopathy, 53Apr 11, 2022
Developmental and epileptic encephalopathy, 651Oct 17, 2023
Developmental and epileptic encephalopathy, 691May 26, 2023
Developmental and epileptic encephalopathy, 782May 13, 2025
Developmental delay and seizures with or without movement abnormalities2Oct 17, 2023
Developmental delay with dysmorphic facies and dental anomalies1Jul 17, 2023
Developmental delay with or without intellectual impairment or behavioral abnormalities3Feb 2, 2024
Developmental delay with short stature, dysmorphic facial features, and sparse hair1Apr 11, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities2Jul 12, 2022
Developmental delay, hypotonia, and impaired language2May 9, 2024
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Feb 2, 2024
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy2Aug 20, 2024
Developmental delay, impaired speech, and behavioral abnormalities3Feb 19, 2025
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures2Oct 17, 2023
DiGeorge syndrome1Apr 11, 2022
Diabetes mellitus, permanent neonatal 21Oct 17, 2023
Diaphanospondylodysostosis1Feb 19, 2025
Dias-Logan syndrome3Oct 17, 2023
Diencephalic-mesencephalic junction dysplasia syndrome 11May 26, 2023
Diets-Jongmans syndrome3Feb 19, 2025
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1Feb 10, 2022
Dilated cardiomyopathy 1E1Apr 11, 2022
Duchenne muscular dystrophy2Oct 17, 2023
EDA-related disorder1Feb 19, 2025
EEF1A2-related disorder1May 9, 2024
EXT2-related disorder1Feb 19, 2025
EYA1-related disorder1May 9, 2024
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1Feb 2, 2024
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant2Feb 2, 2024
Ectodermal dysplasia 15, hypohidrotic/hair type1Feb 10, 2022
Ehlers-Danlos syndrome, classic type, 12May 9, 2024
Ehlers-Danlos syndrome, kyphoscoliotic type 11Feb 10, 2022
Ehlers-Danlos syndrome, periodontal type 11Oct 17, 2023
Ehlers-Danlos syndrome, type 41Jul 17, 2023
Eichsfeld type congenital muscular dystrophy1Feb 19, 2025
Elsahy-Waters syndrome1Jul 17, 2023
Encephalopathy due to GLUT1 deficiency1Feb 10, 2022
Enchondromatosis1Oct 14, 2022
Epidermal nevus1Feb 19, 2025
Epidermolysis bullosa simplex 1C, localized1Feb 10, 2022
Epidermolysis bullosa, junctional 4, intermediate2Oct 14, 2022
Epilepsy with myoclonic atonic seizures3Feb 2, 2024
Epilepsy, early-onset, with or without developmental delay1Feb 10, 2022
Epilepsy, progressive myoclonic, 111Jan 18, 2022
Epilepsy, progressive myoclonic, 1B1Aug 20, 2024
Episodic ataxia type 22Jan 18, 2023
Exostoses, multiple, type 11Jan 18, 2023
Exostoses, multiple, type 23May 9, 2024
Exudative vitreoretinopathy 11Aug 20, 2024
Exudative vitreoretinopathy 51Feb 10, 2022
FARS2-related disorder1May 9, 2024
FBN1-related disorder2Feb 19, 2025
FGFR1-related disorder1Feb 19, 2025
FGFR2-related disorder1Jul 12, 2022
FGFR3-related disorder1May 9, 2024
FH-related disorder1Feb 19, 2025
FIG4-related disorder2Feb 19, 2025
FLNC-related disorder1Feb 19, 2025
Familial X-linked hypophosphatemic vitamin D refractory rickets1Jul 17, 2023
Familial cancer of breast13Feb 19, 2025
Familial cylindromatosis1Feb 10, 2022
Familial hemophagocytic lymphohistiocytosis 21Feb 10, 2022
Familial hemophagocytic lymphohistiocytosis 52May 9, 2024
Familial hypercholesterolemia1Feb 2, 2024
Familial hypobetalipoproteinemia 11Feb 10, 2022
Familial hypocalciuric hypercalcemia 31Feb 19, 2025
Familial hypokalemia-hypomagnesemia5Feb 19, 2025
Familial partial lipodystrophy, Dunnigan type1Jul 17, 2023
Fanconi anemia complementation group D12Oct 17, 2023
Fanconi anemia complementation group I1Jan 18, 2023
Fanconi anemia complementation group J1Jul 12, 2022
Fanconi anemia complementation group P1May 9, 2024
Feeding difficulties9Dec 12, 2014
Feingold syndrome type 12Oct 17, 2023
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Apr 11, 2022
Fliedner-Zweier syndrome1Feb 2, 2024
Focal dermal hypoplasia1Feb 9, 2021
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1Jul 12, 2022
Frontometaphyseal dysplasia 11Feb 2, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Jul 12, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 51Nov 1, 2024
GABRA1-related disorder1Aug 20, 2024
GBA1-related disorder2Aug 20, 2024
GJB2-related disorder2Feb 19, 2025
GLB1-related disorder4Feb 19, 2025
GNAQ-related disorder1Feb 19, 2025
GNB5-related disorder1Feb 2, 2024
GRIK2-related disorder1Feb 19, 2025
Galactosylceramide beta-galactosidase deficiency2Jul 17, 2023
Galloway-Mowat syndrome 34Apr 19, 2022
Galloway-Mowat syndrome 42Apr 11, 2022
Generalized hypotonia1Aug 28, 2018
Genitourinary and/or brain malformation syndrome1Feb 10, 2022
Global developmental delay1Aug 28, 2018
Global developmental delay with or without impaired intellectual development3Aug 20, 2024
Global developmental delay with speech and behavioral abnormalities2Feb 19, 2025
Glomuvenous malformation3Feb 19, 2025
Glucose-6-phosphate transport defect2Oct 17, 2023
Glutaric aciduria, type 12Feb 19, 2025
Glycine encephalopathy2Oct 17, 2023
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Oct 17, 2023
Glycogen storage disease type III5Jul 17, 2023
Glycogen storage disease, type II2Oct 17, 2023
Glycosylphosphatidylinositol biosynthesis defect 151Aug 20, 2024
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31Aug 20, 2024
HCN4-related disorder1Oct 17, 2023
HFE-related disorder1Jul 12, 2022
HNF4A-related disorder1Feb 19, 2025
HSPA9-related disorder1Oct 17, 2023
Hb SS disease1Oct 14, 2022
Hearing loss, autosomal recessive 571Feb 10, 2022
Hemochromatosis type 11Apr 11, 2022
Hereditary antithrombin deficiency2Feb 19, 2025
Hereditary breast ovarian cancer syndrome2May 26, 2023
Hereditary factor IX deficiency disease1Feb 10, 2022
Hereditary fructosuria1Feb 10, 2022
Hereditary spastic paraplegia 42May 26, 2023
Hereditary spastic paraplegia 451Apr 11, 2022
Hereditary spastic paraplegia 481May 26, 2023
Hereditary spastic paraplegia 491May 9, 2024
Hereditary spastic paraplegia 501May 26, 2023
Hereditary spastic paraplegia 72Feb 19, 2025
Hereditary spherocytosis type 31May 26, 2023
Heterotaxy, visceral, 6, autosomal1Feb 19, 2025
Hogue-Janssens syndrome 12Feb 2, 2024
Holt-Oram syndrome1May 26, 2023
Houge-Janssens syndrome 31Apr 11, 2022
Hurler syndrome1Feb 10, 2022
Hutchinson-Gilford syndrome1Jul 17, 2023
Hydrocephalus, nonsyndromic, autosomal recessive 22Jul 12, 2022
Hydrolethalus syndrome 21Feb 10, 2022
Hypercalcemia, infantile, 11May 9, 2024
Hypercholesterolemia, autosomal dominant, 31Feb 19, 2025
Hypercholesterolemia, autosomal dominant, type B2Feb 10, 2022
Hypercholesterolemia, familial, 111Feb 19, 2025
Hyperinsulinism due to INSR deficiency1Oct 14, 2022
Hyperlysinemia1Feb 10, 2022
Hyperphosphatasia with intellectual disability syndrome 12Oct 17, 2023
Hyperphosphatasia with intellectual disability syndrome 21Feb 19, 2025
Hypertrophic cardiomyopathy 42Feb 2, 2024
Hypochondroplasia1Oct 17, 2023
Hypogonadotropic hypogonadism 5 with or without anosmia1Apr 11, 2022
Hypohidrotic X-linked ectodermal dysplasia5Aug 20, 2024
Hypokalemic periodic paralysis, type 21Oct 14, 2022
Hypomyelinating leukodystrophy 101Feb 10, 2022
Hypomyelinating leukodystrophy 111Apr 11, 2022
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2Oct 17, 2023
Hypomyelination with brain stem and spinal cord involvement and leg spasticity1Feb 19, 2025
Hypophosphatemic rickets, X-linked recessive1Feb 10, 2022
Hypopigmentation, organomegaly, and delayed myelination and development1Feb 10, 2022
Hypoplastic left heart syndrome1Feb 2, 2024
Hypothyroidism due to TSH receptor mutations1Jul 17, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Oct 14, 2022
INPP5E-related disorder1Feb 2, 2024
IRF6-related condition1May 9, 2024
Ichthyosis vulgaris12Feb 19, 2025
Idiopathic basal ganglia calcification 11Feb 10, 2022
Immunodeficiency, common variable, 22Jul 17, 2023
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1Oct 14, 2022
Infantile hypophosphatasia1Feb 10, 2022
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Oct 14, 2022
Infantile nephronophthisis1Feb 10, 2022
Intellectual developmental disorder 611Jul 17, 2023
Intellectual developmental disorder 621Oct 17, 2023
Intellectual developmental disorder and retinitis pigmentosa; IDDRP1Apr 11, 2022
Intellectual developmental disorder with autism and macrocephaly1Feb 2, 2024
Intellectual developmental disorder with autistic features and language delay, with or without seizures2Feb 2, 2024
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Oct 17, 2023
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2Feb 19, 2025
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1May 26, 2023
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold3Jul 12, 2022
Intellectual developmental disorder with impaired language and dysmorphic facies1Jul 12, 2022
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism1Oct 14, 2022
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism1May 9, 2024
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia2Jul 17, 2023
Intellectual developmental disorder with seizures and language delay3Oct 17, 2023
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy1Feb 10, 2022
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Jul 17, 2023
Intellectual developmental disorder, X-linked 1121Feb 19, 2025
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies2Aug 20, 2024
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1Oct 17, 2023
Intellectual developmental disorder, autosomal dominant 642Feb 2, 2024
Intellectual developmental disorder, autosomal dominant 651Jan 18, 2023
Intellectual developmental disorder, autosomal dominant 661Oct 17, 2023
Intellectual developmental disorder, autosomal dominant 671Sep 30, 2024
Intellectual developmental disorder, autosomal dominant 681Feb 2, 2024
Intellectual developmental disorder, autosomal dominant 731Feb 19, 2025
Intellectual developmental disorder, autosomal recessive 671Jul 17, 2023
Intellectual developmental disorder, autosomal recessive 682Feb 19, 2025
Intellectual disability11May 14, 2020
Intellectual disability, X-linked 13Aug 20, 2024
Intellectual disability, X-linked 1001Jul 12, 2022
Intellectual disability, X-linked 1023May 30, 2024
Intellectual disability, X-linked 1042Aug 20, 2024
Intellectual disability, X-linked 1071Oct 17, 2023
Intellectual disability, X-linked 212Jul 17, 2023
Intellectual disability, X-linked 491May 9, 2024
Intellectual disability, X-linked 903Oct 17, 2023
Intellectual disability, X-linked 931Oct 14, 2022
Intellectual disability, X-linked 99, syndromic, female-restricted1Feb 19, 2025
Intellectual disability, X-linked syndromic, Turner type1Jul 12, 2022
Intellectual disability, X-linked, syndromic 331Feb 10, 2022
Intellectual disability, X-linked, syndromic, Bain type1Feb 10, 2022
Intellectual disability, X-linked, syndromic, Houge type1May 26, 2023
Intellectual disability, autosomal dominant 11Jul 12, 2022
Intellectual disability, autosomal dominant 132Jan 18, 2023
Intellectual disability, autosomal dominant 142Feb 19, 2025
Intellectual disability, autosomal dominant 203Feb 2, 2024
Intellectual disability, autosomal dominant 221Oct 14, 2022
Intellectual disability, autosomal dominant 242Oct 14, 2022
Intellectual disability, autosomal dominant 301Jul 17, 2023
Intellectual disability, autosomal dominant 394Jul 17, 2023
Intellectual disability, autosomal dominant 411May 26, 2023
Intellectual disability, autosomal dominant 422May 9, 2024
Intellectual disability, autosomal dominant 433Feb 2, 2024
Intellectual disability, autosomal dominant 452Apr 11, 2022
Intellectual disability, autosomal dominant 481May 9, 2024
Intellectual disability, autosomal dominant 51Feb 10, 2022
Intellectual disability, autosomal dominant 504May 9, 2024
Intellectual disability, autosomal dominant 524Oct 17, 2023
Intellectual disability, autosomal dominant 562Feb 19, 2025
Intellectual disability, autosomal dominant 571Feb 2, 2024
Intellectual disability, autosomal dominant 582May 26, 2023
Intellectual disability, autosomal dominant 63Jul 17, 2023
Intellectual disability, autosomal recessive 11Apr 11, 2022
Intellectual disability, autosomal recessive 271Feb 10, 2022
Intellectual disability, autosomal recessive 451Feb 19, 2025
Intellectual disability, autosomal recessive 531Jan 18, 2023
Intellectual disability, autosomal recessive 571Aug 20, 2024
Intellectual disability, autosomal recessive 581Jul 17, 2023
Intellectual disability, autosomal recessive 652Aug 20, 2024
Intellectual disability, autosomal recessive 71Oct 14, 2022
Intellectual disability, severe1Aug 28, 2018
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Feb 19, 2025
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome2Feb 19, 2025
Intellectual disability-hypotonic facies syndrome, X-linked, 11Jul 17, 2023
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome4Feb 19, 2025
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Feb 19, 2025
Interstitial lung disease due to ABCA3 deficiency1May 26, 2023
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency2Oct 14, 2022
Iodotyrosyl coupling defect2Oct 17, 2023
Isolated thyroid-stimulating hormone deficiency1Jan 18, 2023
Isovaleryl-CoA dehydrogenase deficiency2May 26, 2023
Joubert syndrome 211Feb 10, 2022
Joubert syndrome 233Aug 20, 2024
Joubert syndrome 261Feb 10, 2022
Joubert syndrome 332Aug 20, 2024
Joubert syndrome 361May 26, 2023
Joubert syndrome 371Jul 12, 2022
Joubert syndrome 52Feb 10, 2022
Joubert syndrome 81Feb 10, 2022
Joubert syndrome 93Aug 20, 2024
Juvenile onset Parkinson disease 19A1Apr 11, 2022
KARS1-related disorder1Jul 17, 2023
KAT6B-related disorder2Aug 20, 2024
KBG syndrome5May 9, 2024
KCNH1-related disorder1May 26, 2023
KCNQ1-related disorder1Feb 19, 2025
KCNQ2-related disorder1Jul 17, 2023
KDM2B-related disorder1May 9, 2024
KIAA0753-related disorder1Jul 12, 2022
KIF5A-related disorder1Feb 19, 2025
KLF7-related disorder1Mar 17, 2025
Kabuki syndrome 13Aug 20, 2024
Kabuki syndrome 23Feb 19, 2025
Kartagener syndrome1May 26, 2023
Ketoacidosis due to monocarboxylate transporter-1 deficiency1Jan 18, 2023
Kleefstra syndrome 14Jul 17, 2023
Kleefstra syndrome 22Jul 17, 2023
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1Feb 10, 2022
Kohlschutter-Tonz syndrome-like1Jan 18, 2023
Koolen-de Vries syndrome1Feb 10, 2022
LMNA-related disorder1Feb 19, 2025
LSS-related disorder1Feb 2, 2024
LZTR1-related disorder2Feb 19, 2025
LZTR1-related schwannomatosis1May 9, 2024
Lamb-Shaffer syndrome1Jul 17, 2023
Leber congenital amaurosis 101Feb 10, 2022
Left ventricular noncompaction 101Jul 12, 2022
Legius syndrome5Feb 19, 2025
Leukodystrophy, hypomyelinating, 151Feb 10, 2022
Leukodystrophy, hypomyelinating, 171Jan 18, 2023
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy1May 9, 2024
Li-Fraumeni syndrome 11Feb 2, 2024
Lipoyl transferase 1 deficiency1Jul 17, 2023
Lissencephaly 9 with complex brainstem malformation1Apr 11, 2022
Lissencephaly due to LIS1 mutation1Feb 10, 2022
Lissencephaly due to TUBA1A mutation3Feb 19, 2025
Loeys-Dietz syndrome 22Feb 19, 2025
Long QT syndrome 13Aug 20, 2024
Long QT syndrome 21May 26, 2023
Long QT syndrome 31Apr 11, 2022
Lymphatic malformation 61May 26, 2023
Lynch syndrome 11Feb 19, 2025
Lynch syndrome 51Feb 10, 2022
MECP2-related disorder2Feb 19, 2025
MEFV-related disorder1Feb 19, 2025
MEGF8-related Carpenter syndrome1Jul 12, 2022
MIRAGE syndrome1Oct 17, 2023
MSH6-related disorder1Feb 19, 2025
MSX1-related disorder1Jan 18, 2023
MTR-related disorder1Feb 19, 2025
MVK-related disorder1Feb 19, 2025
MYBPC3-related disorder2Oct 17, 2023
MYH7-related disorder1Feb 2, 2024
MYO7A-related disorder1Feb 19, 2025
Macrocephaly-autism syndrome2Aug 20, 2024
Macrocephaly-developmental delay syndrome3Oct 17, 2023
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2Feb 19, 2025
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Oct 17, 2023
Maffucci syndrome1Oct 14, 2022
Malignant tumor of breast1Oct 17, 2023
Mandibulofacial dysostosis-microcephaly syndrome1Feb 19, 2025
Maple syrup urine disease1Feb 10, 2022
Marfan syndrome4Feb 19, 2025
Matthew-Wood syndrome1Feb 10, 2022
Meckel syndrome, type 41Feb 10, 2022
Meckel syndrome, type 62Feb 10, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency4Feb 19, 2025
Medullary thyroid carcinoma1Oct 17, 2023
Megalencephalic leukoencephalopathy with subcortical cysts 11Jan 18, 2023
Megalencephaly-capillary malformation-polymicrogyria syndrome1Feb 10, 2022
Menke-Hennekam syndrome 12Oct 14, 2022
Merosin deficient congenital muscular dystrophy3Oct 7, 2022
Metachromatic leukodystrophy2Aug 20, 2024
Metaphyseal chondrodysplasia, Schmid type1May 9, 2024
Metaphyseal chondromatosis1Oct 17, 2023
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1Feb 10, 2022
Methylmalonic aciduria, cblA type1Apr 11, 2022
Microcephalic primordial dwarfism, Alazami type1May 26, 2023
Microcephaly10Dec 12, 2014
Microcephaly 18, primary, autosomal dominant1Feb 10, 2022
Microcephaly 5, primary, autosomal recessive2Oct 14, 2022
Microcephaly, normal intelligence and immunodeficiency1Jul 12, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2Oct 17, 2023
Migraine, familial hemiplegic, 11Feb 10, 2022
Migraine, familial hemiplegic, 21Feb 10, 2022
Mirror movements 13Feb 2, 2024
Mismatch repair cancer syndrome 31Jul 12, 2022
Mitchell syndrome1Oct 17, 2023
Mitochondrial DNA depletion syndrome 4b2Feb 10, 2022
Mitochondrial complex 1 deficiency, nuclear type 41May 9, 2024
Mitochondrial complex 2 deficiency, nuclear type 31Oct 14, 2022
Mitochondrial complex II deficiency, nuclear type 11Apr 11, 2022
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1Jan 18, 2023
Mitochondrial trifunctional protein deficiency 21Feb 19, 2025
Mucopolysaccharidosis, MPS-I-H/S1Feb 10, 2022
Mucopolysaccharidosis, MPS-I-S1Feb 10, 2022
Mucopolysaccharidosis, MPS-II1Jul 31, 2020
Mucopolysaccharidosis, MPS-III-A1Apr 11, 2022
Mucopolysaccharidosis, MPS-III-B1Feb 10, 2022
Multiple acyl-CoA dehydrogenase deficiency2Oct 14, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 11May 9, 2024
Multiple endocrine neoplasia II1Oct 17, 2023
Multiple mitochondrial dysfunctions syndrome 21Jul 12, 2022
Multiple sulfatase deficiency3Jan 18, 2023
Muscular dystrophy, limb-girdle, autosomal recessive 231Feb 10, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 71Jul 17, 2023
Myasthenic syndrome, congenital, 24, presynaptic1Apr 11, 2022
Myhre syndrome2Oct 17, 2023
Myopia 24, autosomal dominant1Feb 19, 2025
NEB-related disorder3Aug 20, 2024
NF1-related disorder6Feb 19, 2025
NKX2-1-related disorder1Jul 12, 2022
NR0B1-related disorder1Jul 12, 2022
Nail-patella syndrome2May 9, 2024
Nemaline myopathy 23Feb 2, 2024
Nephropathic cystinosis1Oct 17, 2023
Nephrotic syndrome, type 211Aug 20, 2024
Neurodegeneration with brain iron accumulation 54May 9, 2024
Neurodegeneration with brain iron accumulation 61Jul 12, 2022
Neurodevelopmental disorder4Feb 2, 2024
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1Apr 11, 2022
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction2May 9, 2024
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities3May 9, 2024
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies2Feb 2, 2024
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum1Feb 2, 2024
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia1Feb 10, 2022
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1Jan 18, 2023
Neurodevelopmental disorder with hypotonia and gross motor and speech delay1May 26, 2023
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities2May 9, 2024
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Oct 17, 2023
Neurodevelopmental disorder with impaired speech and hyperkinetic movements1Aug 20, 2024
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Feb 2, 2024
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment1Jul 17, 2023
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy1Feb 10, 2022
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities1Feb 19, 2025
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures4Jul 17, 2023
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart3Feb 19, 2025
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Jan 18, 2023
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures2Jul 17, 2023
Neurodevelopmental disorder with seizures and speech and walking impairment1Jan 18, 2023
Neurodevelopmental, jaw, eye, and digital syndrome1Feb 19, 2025
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities4Feb 19, 2025
Neurofibromatosis, type 124Feb 19, 2025
Neurofibromatosis-Noonan syndrome2May 9, 2024
Neurological syndrome with pontocerebellar hypoplasia1Jan 18, 2023
Neuronal ceroid lipofuscinosis 81Jan 18, 2023
Neuroocular syndrome2May 26, 2023
Neuropathy, hereditary motor and sensory, type 6B1Feb 10, 2022
Neutral lipid storage myopathy1Feb 19, 2025
Niemann-Pick disease, type A1Oct 14, 2022
Niemann-Pick disease, type C12Feb 10, 2022
Nijmegen breakage syndrome-like disorder1Jan 18, 2023
Nizon-Isidor syndrome2Aug 20, 2024
Noonan syndrome 15Feb 2, 2024
Noonan syndrome 101Oct 17, 2023
Noonan syndrome 31Apr 11, 2022
Noonan syndrome 41Jul 17, 2023
Noonan syndrome 81Oct 14, 2022
Norman-Roberts syndrome1Jan 18, 2023
Nystagmus 1, congenital, X-linked1May 26, 2023
O'Donnell-Luria-Rodan syndrome3Feb 19, 2025
OFD1-related disorder1Jul 12, 2022
Ocular albinism, type I1Oct 14, 2022
Oculocutaneous albinism type 1B1Feb 10, 2022
Oculocutaneous albinism type 32Feb 10, 2022
Oculodentodigital dysplasia1Feb 10, 2022
Oculofaciocardiodental syndrome2May 9, 2024
Okur-Chung neurodevelopmental syndrome2Oct 17, 2023
Oligodontia-cancer predisposition syndrome1Jul 17, 2023
Ornithine aminotransferase deficiency1Aug 20, 2024
Ornithine carbamoyltransferase deficiency2Feb 19, 2025
Osteogenesis imperfecta type 81May 26, 2023
Osteogenesis imperfecta type I1Feb 10, 2022
PALB2-related disorder2Feb 19, 2025
PAX6-related disorder2Feb 19, 2025
PDE6B-related disorder1Oct 17, 2023
PEX1-related disorder1Feb 19, 2025
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Feb 19, 2025
PI4KA-related disorder1Oct 14, 2022
PIEZO2-related disorder1Aug 20, 2024
PIGA-related disorder1Feb 19, 2025
PIK3CA-related disorder1Jul 12, 2022
PMM2-congenital disorder of glycosylation3Jul 17, 2023
PMS2-related disorder1Aug 20, 2024
PNPT1-related disorder1Feb 19, 2025
POLE-related disorder1Sep 30, 2022
POLG-related disorder3Aug 20, 2024
POLR3A-related disorder1Feb 19, 2025
POU3F3-related disorder1Feb 19, 2025
PROS1-related disorder1Aug 20, 2024
PRRT2-related disorder1Jul 12, 2022
PTEN-related disorder2May 9, 2024
PTPN11-related disorder2Feb 19, 2025
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Feb 10, 2022
Pallister-Hall syndrome1Jan 18, 2023
Palmoplantar keratoderma, epidermolytic1Feb 10, 2022
Parkinsonian-pyramidal syndrome1Jan 18, 2023
Pendred syndrome3Jul 12, 2022
Periventricular nodular heterotopia 81Feb 19, 2025
Peroxisome biogenesis disorder 1A (Zellweger)1Feb 10, 2022
Peters plus syndrome1May 26, 2023
Pfeiffer syndrome1Aug 20, 2024
Phelan-McDermid syndrome20Feb 19, 2025
Phenylketonuria11Feb 19, 2025
Pierpont syndrome1Oct 14, 2022
Pilarowski-Bjornsson syndrome1Oct 14, 2022
Pitt-Hopkins syndrome3Feb 19, 2025
Pituitary hormone deficiency, combined or isolated, 81Feb 2, 2024
Platelet-type bleeding disorder 101Feb 19, 2025
Poirier-Bienvenu neurodevelopmental syndrome1Feb 10, 2022
Polycystic kidney disease 22Oct 14, 2022
Polycystic kidney disease 3 with or without polycystic liver disease1May 26, 2023
Polycystic kidney disease 45Feb 19, 2025
Polycystic kidney disease, adult type7Feb 19, 2025
Polyglandular autoimmune syndrome, type 11Aug 20, 2024
Pontocerebellar hypoplasia type 1B1Feb 10, 2022
Pontocerebellar hypoplasia type 2A1Oct 22, 2024
Pontocerebellar hypoplasia type 2B1May 9, 2024
Pontocerebellar hypoplasia type 41Oct 22, 2024
Pontocerebellar hypoplasia type 51Oct 22, 2024
Pontocerebellar hypoplasia type 62Feb 2, 2024
Pontocerebellar hypoplasia type 71Apr 11, 2022
Pontocerebellar hypoplasia, type 1E1Feb 10, 2022
Porencephaly 21Jan 18, 2023
Porphobilinogen synthase deficiency1Jan 18, 2023
Primary ciliary dyskinesia 221Oct 17, 2023
Primary ciliary dyskinesia 91Aug 20, 2024
Primary coenzyme Q10 deficiency 81May 26, 2023
Progeroid and marfanoid aspect-lipodystrophy syndrome1May 9, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12Feb 2, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12Feb 10, 2022
Progressive osseous heteroplasia1Feb 10, 2022
Progressive scapulohumeroperoneal distal myopathy1Feb 10, 2022
Progressive sclerosing poliodystrophy2Feb 10, 2022
Propionic acidemia2May 26, 2023
Prostate cancer1Feb 10, 2022
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1Feb 10, 2022
Pseudohypoparathyroidism type 1B1Feb 10, 2022
Pseudohypoparathyroidism type 1C1Feb 10, 2022
Pseudohypoparathyroidism type I A1Feb 10, 2022
Pseudopseudohypoparathyroidism2Feb 10, 2022
Pulmonary hypertension, primary, 11Oct 17, 2023
Pyruvate dehydrogenase E1-alpha deficiency1May 26, 2023
RAF1-related disorder1May 9, 2024
RELN-related disorder1Jul 17, 2023
RPS6KA3-related disorder1May 26, 2023
RUNX2-related disorder1Feb 19, 2025
RYR1-related disorder1Jul 17, 2023
RYR2-related disorder2Oct 17, 2023
Radio-Tartaglia syndrome1Jul 17, 2023
Rauch-Steindl syndrome1Apr 11, 2022
Renal carnitine transport defect1Feb 19, 2025
Renpenning syndrome7Jun 7, 2022
Retinitis pigmentosa 131May 9, 2024
Retinitis pigmentosa 251Feb 2, 2024
Retinitis pigmentosa 391Feb 10, 2022
Retinoblastoma1Jan 18, 2023
Rett syndrome6May 9, 2024
Rett syndrome, congenital variant2Feb 2, 2024
Rienhoff syndrome1Feb 2, 2024
Ritscher-Schinzel syndrome 22Jul 12, 2022
Rothmund-Thomson syndrome type 21Feb 10, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations3Jul 17, 2023
SAG-related disorder1May 9, 2024
SATB1-related disorder1Aug 20, 2024
SCN1B-related disorder1Feb 19, 2025
SCN2A-related disorder1May 9, 2024
SCN5A-related disorder1Aug 20, 2024
SCN8A-related disorder2Feb 19, 2025
SDHB-related disorder1May 9, 2024
SETD2-related disorder1May 9, 2024
SHANK1-related autism1May 26, 2023
SLC26A4-related disorder4Feb 19, 2025
SLC2A1-related disorder1May 9, 2024
SLC34A1-related disorder1May 14, 2024
SLC35A2-congenital disorder of glycosylation1Feb 10, 2022
SMC1A-related disorder1Feb 19, 2025
SOX10-related disorder1Oct 14, 2022
SPG11-related disorder1Feb 19, 2025
SPTAN1-related disorder2Feb 19, 2025
SRCAP-related disorder1Aug 20, 2024
SURF1-related disorder1May 9, 2024
SchC6pf-Schulz-Passarge syndrome2Feb 10, 2022
Schaaf-Yang syndrome1Oct 17, 2023
Seizure8Dec 12, 2014
Seizures, benign familial infantile, 51Feb 10, 2022
Seizures, benign familial neonatal, 21Feb 19, 2025
Seizures-scoliosis-macrocephaly syndrome1Apr 11, 2022
Senior-Loken syndrome 61Feb 10, 2022
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis4Feb 2, 2024
Severe X-linked mitochondrial encephalomyopathy1Apr 13, 2021
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome5Feb 19, 2025
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome2Oct 17, 2023
Severe intellectual disability-progressive spastic diplegia syndrome3Feb 19, 2025
Severe myoclonic epilepsy in infancy1Feb 10, 2022
Shashi-Pena syndrome1Jul 12, 2022
Short QT syndrome type 21Feb 10, 2022
Short-rib thoracic dysplasia 14 with polydactyly1Feb 10, 2022
Sifrim-Hitz-Weiss syndrome1Aug 20, 2024
Skraban-Deardorff syndrome1Jul 12, 2022
Smith-Lemli-Opitz syndrome4Feb 19, 2025
Smith-Magenis syndrome2Aug 20, 2024
Snijders Blok-Campeau syndrome5Aug 20, 2024
Sotos syndrome2Feb 2, 2024
Spinocerebellar ataxia 501May 8, 2024
Spinocerebellar ataxia type 211May 9, 2024
Spinocerebellar ataxia type 61Feb 10, 2022
Spondylocostal dysostosis 1, autosomal recessive2Jul 17, 2023
Spondyloepiphyseal dysplasia congenita1Jan 18, 2023
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis1Apr 11, 2022
Sterol carrier protein 2 deficiency1Oct 17, 2023
Stickler syndrome type 14Feb 2, 2024
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2Oct 17, 2023
Sweeney-Cox syndrome1May 9, 2024
Syndromic X-linked intellectual disability 941Feb 2, 2024
Syndromic X-linked intellectual disability Claes-Jensen type2Jan 10, 2025
Syndromic X-linked intellectual disability Najm type1Oct 17, 2023
TBL1XR1-related disorder1Jul 17, 2023
TCF12-related craniosynostosis1Feb 2, 2024
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome1Feb 19, 2025
TNF receptor-associated periodic fever syndrome (TRAPS)1Dec 20, 2024
TNFRSF9-related disorder1Oct 14, 2022
TNNT2-related disorder1Oct 14, 2022
TOR1A-related disorder1Aug 20, 2024
TP63-related disorder1Feb 19, 2025
TPP1-related disorder1May 9, 2024
TRIO-related disorder1Oct 17, 2023
TRPS1-related disorder1Jul 17, 2023
TTN-related disorder3Feb 19, 2025
TUBB3-related disorder1May 9, 2024
TWIST1-related disorder1Jul 17, 2023
TWNK-related disorder1Jul 17, 2023
TYR-related disorder3Feb 19, 2025
Telangiectasia, hereditary hemorrhagic, type 12Jan 18, 2023
Telangiectasia, hereditary hemorrhagic, type 23Oct 14, 2022
Tessadori-Van Haaften neurodevelopmental syndrome 31May 9, 2024
Testosterone 17-beta-dehydrogenase deficiency1Jul 17, 2023
Thyroid dyshormonogenesis 62Feb 19, 2025
Thyroid hormone metabolism, abnormal 11Jul 12, 2022
Thyroid hormone resistance, generalized, autosomal dominant1Aug 20, 2024
Timothy syndrome1Oct 17, 2023
Tolchin-Le Caignec syndrome1Jan 18, 2023
Tooth agenesis, selective, 43May 9, 2024
Tooth agenesis, selective, 71Jul 17, 2023
Tooth agenesis, selective, X-linked, 11Feb 10, 2022
Townes-Brocks syndrome 11Feb 2, 2024
Treacher Collins syndrome 11Feb 10, 2022
Trichoepithelioma, multiple familial, 11Feb 10, 2022
Trichohepatoenteric syndrome 21Oct 17, 2023
Trichorhinophalangeal dysplasia type I1Jul 17, 2023
Trichorhinophalangeal syndrome, type III1Feb 2, 2024
Trichothiodystrophy 1, photosensitive2Oct 14, 2022
Tuberous sclerosis 11May 9, 2024
Tuberous sclerosis 21Oct 25, 2023
Tumoral calcinosis, hyperphosphatemic, familial, 12Jul 17, 2023
Tyrosinase-positive oculocutaneous albinism5Feb 19, 2025
UGT1A1-related disorder1Jul 12, 2022
Ullrich congenital muscular dystrophy 1A1Jul 17, 2023
Uncombable hair syndrome 11Oct 17, 2023
Upshaw-Schulman syndrome1Feb 10, 2022
Usher syndrome type 2A3Aug 20, 2024
Van Maldergem syndrome 21Oct 14, 2022
Variable neurodevelopmental disorder1Jul 17, 2023
Ververi-Brady syndrome6Aug 20, 2024
Very long chain acyl-CoA dehydrogenase deficiency2Aug 20, 2024
Vici syndrome1Feb 19, 2025
Von Hippel-Lindau syndrome1Feb 10, 2022
WDR11-related disorder1Aug 20, 2024
WFS1-related disorder1Jul 12, 2022
WNT10A-related disorder1May 9, 2024
WT1-related disorder1May 26, 2023
Weiss-Kruszka syndrome1Feb 2, 2024
Wiedemann-Steiner syndrome4Feb 2, 2024
Wilson disease2Oct 17, 2023
Wolfram syndrome 12May 26, 2023
X-linked Alport syndrome3Oct 17, 2023
X-linked cone-rod dystrophy 31Aug 20, 2024
X-linked intellectual disability Cabezas type2Oct 17, 2023
X-linked intellectual disability, Cantagrel type1Feb 10, 2022
X-linked lymphoproliferative disease due to SH2D1A deficiency1Jul 12, 2022
X-linked mixed hearing loss with perilymphatic gusher1Jul 17, 2023
X-linked recessive nephrolithiasis with renal failure1Feb 10, 2022
ZMPSTE24-related disorder1Feb 19, 2025
ZTTK syndrome3Feb 19, 2025
beta Thalassemia1Apr 11, 2022
not provided2548Feb 19, 2025
not specified21Jan 20, 2015
von Willebrand disease type 21Feb 2, 2024

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 22 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
4p partial monosomy syndrome2 tests
7q11.23 microduplication syndrome2 tests
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
ALG1-congenital disorder of glycosylation1 test
ALG9 congenital disorder of glycosylation1 test
ANKRD1-related dilated cardiomyopathy1 test
Absence seizure1 test
Achondrogenesis type II1 test
Achondroplasia1 test
Action myoclonus-renal failure syndrome1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Adenylosuccinate lyase deficiency1 test
Adrenoleukodystrophy1 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Alpha thalassemia-X-linked intellectual disability syndrome2 tests
Alpha-1-antitrypsin deficiency2 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Alstrom syndrome3 tests
Alternating hemiplegia of childhood 11 test
Amelocerebrohypohidrotic syndrome1 test
Amish lethal microcephaly1 test
Amyloidosis, hereditary systemic 12 tests
Andersen Tawil syndrome1 test
Aneurysm-osteoarthritis syndrome2 tests
Angelman syndrome5 tests
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 62 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic valve disease 12 tests
Arginine:glycine amidinotransferase deficiency1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 102 tests
Arrhythmogenic right ventricular dysplasia 112 tests
Arrhythmogenic right ventricular dysplasia 122 tests
Arrhythmogenic right ventricular dysplasia 22 tests
Arrhythmogenic right ventricular dysplasia 52 tests
Arrhythmogenic right ventricular dysplasia 82 tests
Arrhythmogenic right ventricular dysplasia 92 tests
Arterial tortuosity syndrome2 tests
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Aspartylglucosaminuria1 test
Atrial fibrillation, familial, 102 tests
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 72 tests
Atrial fibrillation, familial, 91 test
Atrial septal defect 32 tests
Atrial septal defect 52 tests
Atrial septal defect 71 test
Autoimmune interstitial lung disease-arthritis syndrome2 tests
Autosomal dominant Alport syndrome1 test
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant cerebellar ataxia, deafness and narcolepsy3 tests
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 211 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A2 tests
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 511 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 651 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 691 test
Autosomal dominant nonsyndromic hearing loss 71 test
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive amelia1 test
Autosomal recessive dyskeratosis congenita 42 tests
Autosomal recessive inherited pseudoxanthoma elasticum1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 1041 test
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 163 tests
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A3 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 701 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 891 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 981 test
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive spinocerebellar ataxia 121 test
Azorean disease2 tests
Bannayan-Riley-Ruvalcaba syndrome2 tests
Baraitser-winter syndrome 21 test
Bardet-Biedl syndrome 131 test
Bartter disease type 31 test
Bartter disease type 4A1 test
Bartter disease type 4B1 test
Becker muscular dystrophy1 test
Beckwith-Wiedemann syndrome6 tests
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
Bifunctional peroxisomal enzyme deficiency1 test
Bile acid malabsorption, primary, 11 test
Biotinidase deficiency1 test
Birt-Hogg-Dube syndrome1 test
Borjeson-Forssman-Lehmann syndrome2 tests
Brain-lung-thyroid syndrome2 tests
Branchiootic syndrome 11 test
Branchiootorenal syndrome 11 test
Brittle cornea syndrome 11 test
Brittle cornea syndrome 21 test
Brody myopathy1 test
Bronchiectasis with or without elevated sweat chloride 11 test
Bronchiectasis with or without elevated sweat chloride 21 test
Brown-Vialetto-van Laere syndrome 11 test
Brown-Vialetto-van Laere syndrome 21 test
Brugada syndrome1 test
Brugada syndrome 12 tests
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 51 test
Brugada syndrome 61 test
Brugada syndrome 71 test
Brugada syndrome 81 test
Brugada syndrome 91 test
CBL-related disorder2 tests
CHARGE syndrome3 tests
CLAPO syndrome1 test
CLOVES syndrome1 test
COACH syndrome1 test
Cantu syndrome, KCNJ8 related1 test
Capillary malformation-arteriovenous malformation syndrome2 tests
Cardiac arrhythmia, ankyrin-B-related1 test
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 42 tests
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis2 tests
Cardiomyopathy, familial restrictive, 12 tests
Cardiomyopathy, familial restrictive, 32 tests
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyltransferase II deficiency1 test
Catecholaminergic polymorphic ventricular tachycardia 12 tests
Catecholaminergic polymorphic ventricular tachycardia 22 tests
Catecholaminergic polymorphic ventricular tachycardia 41 test
Catecholaminergic polymorphic ventricular tachycardia 52 tests
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease2 tests
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction1 test
Cerebral cavernous malformation1 test
Cerebral cavernous malformation 21 test
Cerebral cavernous malformation 31 test
Cerebral cavernous malformation 41 test
Cerebral creatine deficiency syndrome1 test
Cerebroretinal microangiopathy with calcifications and cysts 12 tests
Ceroid lipofuscinosis, neuronal, 6A1 test
Charcot-Marie-Tooth disease X-linked recessive 41 test
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease, type IA1 test
Cholestanol storage disease1 test
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Cholestasis, progressive familial intrahepatic, 41 test
Cholestasis, progressive familial intrahepatic, 51 test
Chondrodysplasia Blomstrand type1 test
Christianson syndrome1 test
Chudley-McCullough syndrome1 test
Chédiak-Higashi syndrome1 test
Ciliary dyskinesia, primary, 371 test
Ciliary dyskinesia, primary, 421 test
Citrullinemia type II1 test
Classic homocystinuria2 tests
Coffin Siris/Intellectual Disability2 tests
Coffin-Siris syndrome 11 test
Cohen-Gibson syndrome3 tests
Combined deficiency of sialidase AND beta galactosidase1 test
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined oxidative phosphorylation defect type 131 test
Combined oxidative phosphorylation defect type 241 test
Complex cortical dysplasia with other brain malformations 21 test
Complex cortical dysplasia with other brain malformations 51 test
Cone-rod dystrophy and hearing loss 11 test
Cone-rod dystrophy and hearing loss 21 test
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital bile acid synthesis defect 31 test
Congenital bile acid synthesis defect 41 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital central hypoventilation1 test
Congenital contractural arachnodactyly2 tests
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital dyserythropoietic anemia type 41 test
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital dyserythropoietic anemia, type III1 test
Congenital lactase deficiency1 test
Congenital macrodactylia1 test
Congenital malabsorptive diarrhea 41 test
Congenital microvillous atrophy1 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital secretory diarrhea, chloride type1 test
Congenital sodium diarrhea1 test
Conotruncal heart malformations1 test
Cortical dysplasia-focal epilepsy syndrome1 test
Costello syndrome4 tests
Cowden syndrome1 test
Cowden syndrome 12 tests
Cowden syndrome 51 test
Coxopodopatellar syndrome1 test
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Cutaneous porphyria1 test
Cutis laxa with osteodystrophy1 test
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1 test
Cutis laxa, X-linked1 test
Cutis laxa, autosomal dominant 13 tests
Cutis laxa, autosomal dominant 22 tests
Cutis laxa, autosomal recessive, type 1A3 tests
Cutis laxa, autosomal recessive, type 1B1 test
Cystic fibrosis3 tests
DK1-congenital disorder of glycosylation2 tests
DOORS syndrome1 test
DYRK1A-related intellectual disability syndrome1 test
Danon disease2 tests
De Lange syndrome2 tests
Deafness dystonia syndrome1 test
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, X-linked 51 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness-infertility syndrome1 test
Deafness-lymphedema-leukemia syndrome1 test
Decreased CSF 5-methyltetrahydrofolate concentration1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of alpha-mannosidase2 tests
Delpire-McNeill syndrome1 test
Desbuquois dysplasia 11 test
Developmental and epileptic encephalopathy 911 test
Developmental and epileptic encephalopathy 921 test
Developmental and epileptic encephalopathy 943 tests
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 141 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 191 test
Developmental and epileptic encephalopathy, 231 test
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 281 test
Developmental and epileptic encephalopathy, 301 test
Developmental and epileptic encephalopathy, 31A1 test
Developmental and epileptic encephalopathy, 321 test
Developmental and epileptic encephalopathy, 331 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 441 test
Developmental and epileptic encephalopathy, 451 test
Developmental and epileptic encephalopathy, 471 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 531 test
Developmental and epileptic encephalopathy, 571 test
Developmental and epileptic encephalopathy, 591 test
Developmental and epileptic encephalopathy, 621 test
Developmental and epileptic encephalopathy, 641 test
Developmental and epileptic encephalopathy, 661 test
Developmental and epileptic encephalopathy, 671 test
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 6A1 test
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 81 test
Developmental and epileptic encephalopathy, 811 test
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 91 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA2 tests
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C2 tests
Dilated cardiomyopathy 1CC2 tests
Dilated cardiomyopathy 1D2 tests
Dilated cardiomyopathy 1DD2 tests
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF2 tests
Dilated cardiomyopathy 1G2 tests
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I2 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK2 tests
Dilated cardiomyopathy 1L2 tests
Dilated cardiomyopathy 1NN2 tests
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P2 tests
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S2 tests
Dilated cardiomyopathy 1W2 tests
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y2 tests
Dilated cardiomyopathy 1Z2 tests
Dilated cardiomyopathy 2A2 tests
Dilated cardiomyopathy 2B2 tests
Dilated cardiomyopathy 3B2 tests
Disorder of organic acid metabolism1 test
Distal myopathy, Tateyama type1 test
Distichiasis-lymphedema syndrome2 tests
Down syndrome2 tests
Dubin-Johnson syndrome1 test
Duchenne muscular dystrophy2 tests
Dyskeratosis congenita, X-linked2 tests
Dyskeratosis congenita, autosomal dominant 12 tests
Dyskeratosis congenita, autosomal dominant 22 tests
Dyskeratosis congenita, autosomal dominant 32 tests
Dyskeratosis congenita, autosomal dominant 62 tests
Dyskeratosis congenita, autosomal recessive 12 tests
Dyskeratosis congenita, autosomal recessive 22 tests
Dyskeratosis congenita, autosomal recessive 32 tests
EAST syndrome2 tests
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 21 test
Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-Danlos syndrome, classic type, 12 tests
Ehlers-Danlos syndrome, classic type, 22 tests
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
Ehlers-Danlos syndrome, type 42 tests
Elevated circulating creatine kinase concentration2 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
Epidermal nevus1 test
Epilepsy with myoclonic atonic seizures1 test
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Epilepsy, early-onset, vitamin B6-dependent1 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial focal, with variable foci 21 test
Epilepsy, familial focal, with variable foci 31 test
Epilepsy, familial focal, with variable foci 41 test
Epilepsy, familial temporal lobe, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epilepsy, idiopathic generalized, susceptibility to, 91 test
Epilepsy, progressive myoclonic, 1B1 test
Episodic ataxia type 11 test
Episodic ataxia type 21 test
Episodic kinesigenic dyskinesia 11 test
FG syndrome 11 test
Fabry disease4 tests
Familial infantile myoclonic epilepsy1 test
Familial multiple nevi flammei1 test
Familial pulmonary capillary hemangiomatosis1 test
Familial spontaneous pneumothorax1 test
Familial thoracic aortic aneurysm and aortic dissection2 tests
Fanconi renotubular syndrome 31 test
Farber lipogranulomatosis1 test
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
Floating-Harbor syndrome2 tests
Fragile X syndrome4 tests
G6PD deficiency1 test
GM1 gangliosidosis1 test
GM3 synthase deficiency1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gallbladder disease 41 test
Gamma-aminobutyric acid transaminase deficiency1 test
Gaucher disease3 tests
Geleophysic dysplasia 21 test
Generalized epilepsy with febrile seizures plus, type 101 test
Generalized epilepsy with febrile seizures plus, type 91 test
Genitopatellar syndrome3 tests
Gilbert syndrome1 test
Glomuvenous malformation1 test
Glutaric aciduria, type 11 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXd1 test
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
Glycogen storage disease due to muscle beta-enolase deficiency1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease type III2 tests
Glycogen storage disease type X1 test
Glycogen storage disease, type II5 tests
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V1 test
Glycogen storage disease, type VII1 test
Gorlin syndrome1 test
Greenberg dysplasia1 test
Greig cephalopolysyndactyly syndrome1 test
HNSHA due to aldolase A deficiency1 test
Hearing loss, X-linked 11 test
Hearing loss, autosomal dominant 371 test
Hearing loss, autosomal dominant 711 test
Hearing loss, autosomal dominant 731 test
Hearing loss, autosomal dominant 781 test
Hearing loss, autosomal dominant 811 test
Hearing loss, autosomal dominant 821 test
Hearing loss, autosomal recessive 1061 test
Hearing loss, autosomal recessive 1111 test
Hearing loss, autosomal recessive 1191 test
Hearing loss, autosomal recessive 571 test
Hearing loss, autosomal recessive 941 test
Heimler syndrome 11 test
Heimler syndrome 21 test
Hennekam lymphangiectasia-lymphedema syndrome 12 tests
Hennekam lymphangiectasia-lymphedema syndrome 21 test
Hereditary disease10 tests
Hereditary fructosuria1 test
Hereditary hearing loss and deafness1 test
Hereditary lymphedema type I1 test
Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
Hereditary pancreatitis1 test
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement2 tests
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hermansky-Pudlak syndrome 13 tests
Hermansky-Pudlak syndrome 102 tests
Hermansky-Pudlak syndrome 23 tests
Hermansky-Pudlak syndrome 33 tests
Hermansky-Pudlak syndrome 43 tests
Hermansky-Pudlak syndrome 53 tests
Hermansky-Pudlak syndrome 63 tests
Hermansky-Pudlak syndrome 73 tests
Hermansky-Pudlak syndrome 81 test
Hermansky-Pudlak syndrome 93 tests
Heterotopia, periventricular, X-linked dominant1 test
High myopia-sensorineural deafness syndrome1 test
Houge-Janssens syndrome 31 test
Hunter-McAlpine craniosynostosis2 tests
Hurler syndrome2 tests
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hypercholanemia, familial1 test
Hypercholesterolemia, familial, 11 test
Hyperphosphatasia with intellectual disability syndrome 21 test
Hyperproinsulinemia1 test
Hypertrophic cardiomyopathy 12 tests
Hypertrophic cardiomyopathy 102 tests
Hypertrophic cardiomyopathy 112 tests
Hypertrophic cardiomyopathy 122 tests
Hypertrophic cardiomyopathy 132 tests
Hypertrophic cardiomyopathy 142 tests
Hypertrophic cardiomyopathy 152 tests
Hypertrophic cardiomyopathy 162 tests
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 182 tests
Hypertrophic cardiomyopathy 22 tests
Hypertrophic cardiomyopathy 202 tests
Hypertrophic cardiomyopathy 252 tests
Hypertrophic cardiomyopathy 32 tests
Hypertrophic cardiomyopathy 42 tests
Hypertrophic cardiomyopathy 62 tests
Hypertrophic cardiomyopathy 72 tests
Hypertrophic cardiomyopathy 82 tests
Hypertrophic cardiomyopathy 92 tests
Hypochondrogenesis1 test
Hypoparathyroidism, deafness, renal disease syndrome1 test
Hypoplastic left heart syndrome 21 test
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
Idiopathic generalized epilepsy1 test
Inborn mitochondrial myopathy4 tests
Infantile epileptic dyskinetic encephalopathy1 test
Infantile nephronophthisis2 tests
Infantile onset spinocerebellar ataxia1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Intellectual developmental disorder with seizures and language delay2 tests
Intellectual disability, CASK-related, X-linked1 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked 1021 test
Intellectual disability, X-linked 491 test
Intellectual disability, X-linked 931 test
Intellectual disability, X-linked 991 test
Intellectual disability, X-linked 99, syndromic, female-restricted1 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 381 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 561 test
Intellectual disability, autosomal dominant 81 test
Intellectual disability, autosomal recessive 421 test
Interstitial lung disease 22 tests
Interstitial lung disease due to ABCA3 deficiency2 tests
Isolated neonatal sclerosing cholangitis1 test
Jervell and Lange-Nielsen syndrome 12 tests
Jervell and Lange-Nielsen syndrome 22 tests
Joubert syndrome 281 test
Joubert syndrome 91 test
Joubert syndrome with renal defect1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
KBG syndrome1 test
Kabuki syndrome3 tests
Kartagener syndrome1 test
Kilquist syndrome1 test
Kleefstra syndrome2 tests
Kleefstra syndrome 11 test
Koolen-de Vries syndrome3 tests
LEOPARD syndrome 22 tests
Lafora disease1 test
Landau-Kleffner syndrome1 test
Leber congenital amaurosis with early-onset deafness1 test
Leber optic atrophy4 tests
Left ventricular noncompaction 12 tests
Left ventricular noncompaction 102 tests
Left ventricular noncompaction 82 tests
Legius syndrome1 test
Lethal congenital glycogen storage disease of heart2 tests
Lethal multiple pterygium syndrome1 test
Leucine-induced hypoglycemia1 test
Liddle syndrome1 test
Lipoic acid synthetase deficiency1 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 42 tests
Long QT syndrome 11 test
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 131 test
Long QT syndrome 141 test
Long QT syndrome 151 test
Long QT syndrome 21 test
Long QT syndrome 32 tests
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 91 test
Low phospholipid associated cholelithiasis1 test
Lucey-Driscoll syndrome1 test
Lymphangiomyomatosis1 test
Lymphatic malformation 31 test
Lymphatic malformation 41 test
Lymphatic malformation 61 test
Lymphedema-posterior choanal atresia syndrome1 test
Lysinuric protein intolerance1 test
MELAS syndrome6 tests
MERRF syndrome5 tests
MYH7-related skeletal myopathy2 tests
Macrocephaly, macrosomia, facial dysmorphism syndrome1 test
Malan overgrowth syndrome1 test
Malignant hyperthermia, susceptibility to, 11 test
Marfan syndrome3 tests
Marinesco-Sjögren syndrome1 test
Marshall syndrome1 test
Maternally-inherited spastic paraplegia4 tests
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 131 test
Maturity-onset diabetes of the young type 141 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 test
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
Meckel syndrome, type 11 test
Meckel syndrome, type 21 test
Meckel syndrome, type 61 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
Melnick-Needles syndrome1 test
Metabolic myopathy due to lactate transporter defect1 test
Metachromatic leukodystrophy1 test
Mevalonic aciduria1 test
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1 test
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
Microcephaly-capillary malformation syndrome1 test
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Mitochondrial DNA depletion syndrome 11 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 4b1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 8a1 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP4 tests
Mitochondrial complex IV deficiency, nuclear type 14 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
Mitochondrial disease4 tests
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy1 test
Mitochondrial non-syndromic sensorineural hearing loss5 tests
Mitochondrial trifunctional protein deficiency2 tests
Miyoshi muscular dystrophy 11 test
Motor developmental delay due to 14q32.2 paternally expressed gene defect3 tests
Mowat-Wilson syndrome1 test
Mucolipidosis type II1 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis type 72 tests
Mucopolysaccharidosis, MPS-II2 tests
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-III-D1 test
Mucopolysaccharidosis, MPS-IV-A2 tests
Mucopolysaccharidosis, MPS-IV-B1 test
Multiple acyl-CoA dehydrogenase deficiency1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple cutaneous and mucosal venous malformations1 test
Multiple epiphyseal dysplasia1 test
Multiple sulfatase deficiency1 test
Multisystemic smooth muscle dysfunction syndrome1 test
Muscle AMP deaminase deficiency1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 42 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51 test
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
Muscular dystrophy-dystroglycanopathy type B51 test
Myofibrillar myopathy 22 tests
Myofibrillar myopathy 42 tests
Myofibrillar myopathy 62 tests
Myoglobinuria, acute recurrent, autosomal recessive1 test
Myoglobinuria, recurrent3 tests
Myopathy due to calsequestrin and SERCA1 protein overload1 test
Myopathy, myosin storage, autosomal recessive2 tests
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myosin storage myopathy2 tests
NARP syndrome2 tests
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome2 tests
Naxos disease2 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neonatal-onset encephalopathy with rigidity and seizures1 test
Nephronophthisis 11 test
Nephronophthisis 191 test
Nephronophthisis 31 test
Nephronophthisis 41 test
Neurodegeneration with brain iron accumulation 51 test
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1 test
Neurodevelopmental disorder with hearing loss and spasticity1 test
Neurodevelopmental disorder with hypotonia, seizures, and absent language1 test
Neurodevelopmental disorder with involuntary movements1 test
Neurodevelopmental disorder with poor language and loss of hand skills1 test
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1 test
Neurofibromatosis1 test
Neurofibromatosis, type 11 test
Neuronal ceroid lipofuscinosis1 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Nicolaides-Baraitser syndrome2 tests
Niemann-Pick disease, type A2 tests
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Non-syndromic X-linked intellectual disability1 test
Noonan syndrome1 test
Noonan syndrome 13 tests
Noonan syndrome 101 test
Noonan syndrome 32 tests
Noonan syndrome 42 tests
Noonan syndrome 53 tests
Noonan syndrome 62 tests
Noonan syndrome 72 tests
Noonan syndrome 82 tests
Noonan syndrome 91 test
Noonan syndrome with multiple lentigines1 test
Noonan syndrome-like disorder with loose anagen hair 12 tests
Norman-Roberts syndrome1 test
Ocular albinism, type I1 test
Oculocutaneous albinism type 1A1 test
Oculocutaneous albinism type 31 test
Oculocutaneous albinism type 41 test
Oculocutaneous albinism type 72 tests
Orofaciodigital syndrome I1 test
Osteogenesis imperfecta2 tests
Oto-palato-digital syndrome, type II1 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia1 test
PGM1-congenital disorder of glycosylation1 test
PHARC syndrome1 test
PHGDH deficiency1 test
PMM2-congenital disorder of glycosylation1 test
POLG-related disorder1 test
PTEN hamartoma tumor syndrome2 tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome2 tests
Paramyotonia congenita of Von Eulenburg1 test
Paternal uniparental disomy of chromosome 143 tests
Pearson syndrome1 test
Pelizaeus-Merzbacher disease1 test
Pendred syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Peroxisome biogenesis disorder2 tests
Peroxisome biogenesis disorder 10A (Zellweger)2 tests
Peroxisome biogenesis disorder 10B1 test
Peroxisome biogenesis disorder 11A (Zellweger)2 tests
Peroxisome biogenesis disorder 11B1 test
Peroxisome biogenesis disorder 12A (Zellweger)2 tests
Peroxisome biogenesis disorder 13A (Zellweger)2 tests
Peroxisome biogenesis disorder 14B1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 2A (Zellweger)2 tests
Peroxisome biogenesis disorder 2B1 test
Peroxisome biogenesis disorder 3A (Zellweger)2 tests
Peroxisome biogenesis disorder 4A (Zellweger)3 tests
Peroxisome biogenesis disorder 4B2 tests
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 6A (Zellweger)2 tests
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7A (Zellweger)2 tests
Peroxisome biogenesis disorder 7B1 test
Peroxisome biogenesis disorder 8A (Zellweger)2 tests
Peroxisome biogenesis disorder 8B1 test
Peroxisome biogenesis disorder 9B1 test
Peroxisome biogenesis disorder type 3B1 test
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Perrault syndrome 51 test
Persistent fetal circulation syndrome1 test
Phenylketonuria1 test
Pili torti-deafness syndrome1 test
Pitt-Hopkins syndrome1 test
Pitt-Hopkins-like syndrome 21 test
Poikiloderma with neutropenia2 tests
Polycystic kidney disease 21 test
Polyendocrine-polyneuropathy syndrome1 test
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome1 test
Pontocerebellar hypoplasia type 2A1 test
Prader-Willi syndrome4 tests
Primary ciliary dyskinesia 101 test
Primary ciliary dyskinesia 111 test
Primary ciliary dyskinesia 121 test
Primary ciliary dyskinesia 131 test
Primary ciliary dyskinesia 141 test
Primary ciliary dyskinesia 151 test
Primary ciliary dyskinesia 161 test
Primary ciliary dyskinesia 171 test
Primary ciliary dyskinesia 181 test
Primary ciliary dyskinesia 191 test
Primary ciliary dyskinesia 21 test
Primary ciliary dyskinesia 201 test
Primary ciliary dyskinesia 211 test
Primary ciliary dyskinesia 221 test
Primary ciliary dyskinesia 231 test
Primary ciliary dyskinesia 241 test
Primary ciliary dyskinesia 251 test
Primary ciliary dyskinesia 261 test
Primary ciliary dyskinesia 271 test
Primary ciliary dyskinesia 281 test
Primary ciliary dyskinesia 291 test
Primary ciliary dyskinesia 31 test
Primary ciliary dyskinesia 301 test
Primary ciliary dyskinesia 321 test
Primary ciliary dyskinesia 331 test
Primary ciliary dyskinesia 341 test
Primary ciliary dyskinesia 351 test
Primary ciliary dyskinesia 61 test
Primary ciliary dyskinesia 71 test
Primary ciliary dyskinesia 91 test
Primary dilated cardiomyopathy1 test
Primary familial hypertrophic cardiomyopathy4 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
Progressive familial heart block type IB1 test
Progressive familial heart block, type 1A2 tests
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 21 test
Progressive familial intrahepatic cholestasis type 31 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 51 test
Progressive myoclonic epilepsy type 61 test
Progressive myoclonic epilepsy type 71 test
Progressive myositis ossificans1 test
Progressive sclerosing poliodystrophy1 test
Prolidase deficiency1 test
Proteus syndrome1 test
Proteus-like syndrome1 test
Pseudohypoaldosteronism, type IB1, autosomal recessive1 test
Pseudohypoparathyroidism1 test
Pseudohypoparathyroidism type 1B1 test
Pseudohypoparathyroidism type 1C1 test
Pseudohypoparathyroidism type I A1 test
Pulmonary disease, chronic obstructive, susceptibility to2 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 32 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 42 tests
Pulmonary hypertension, primary, 21 test
Pulmonary hypertension, primary, 31 test
Pulmonary hypertension, primary, 41 test
Pulmonary hypertension, primary, autosomal recessive1 test
Pulmonary venoocclusive disease 11 test
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyruvate kinase deficiency of red cells1 test
Rahman syndrome2 tests
Rajab interstitial lung disease with brain calcifications 12 tests
Renal carnitine transport defect2 tests
Renal cysts and diabetes syndrome1 test
Renal tubular acidosis with progressive nerve deafness1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Rett syndrome3 tests
Rett syndrome, congenital variant1 test
Rienhoff syndrome1 test
Rippling muscle disease1 test
Rippling muscle disease 21 test
Rubinstein-Taybi syndrome2 tests
Russell-Silver syndrome2 tests
SLC35A2-congenital disorder of glycosylation1 test
SMARCB1-related schwannomatosis1 test
STAT3-related early-onset multisystem autoimmune disease1 test
STING-associated vasculopathy with onset in infancy2 tests
SUDDEN INFANT DEATH SYNDROME1 test
Saethre-Chotzen syndrome1 test
Schuurs-Hoeijmakers syndrome1 test
Senior-Loken syndrome 11 test
Senior-Loken syndrome 41 test
Senior-loken syndrome 31 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
Severe X-linked mitochondrial encephalomyopathy1 test
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency2 tests
Short QT syndrome type 11 test
Short-rib thoracic dysplasia 14 with polydactyly1 test
Short-rib thoracic dysplasia 7 with or without polydactyly1 test
Shprintzen-Goldberg syndrome2 tests
Sialic acid storage disease, severe infantile type1 test
Sialidosis type 11 test
Sialidosis type 21 test
Sick sinus syndrome 12 tests
Sick sinus syndrome 2, autosomal dominant1 test
Silver-Russell syndrome 12 tests
Simpson-Golabi-Behmel syndrome type 11 test
Simpson-Golabi-Behmel syndrome type 21 test
Sinoatrial node dysfunction and deafness1 test
Sitosterolemia 11 test
Sitosterolemia 21 test
Skeletal dysplasia1 test
Skin/hair/eye pigmentation, variation in, 41 test
Smith-Lemli-Opitz syndrome2 tests
Sotos syndrome4 tests
Sphingomyelin/cholesterol lipidosis2 tests
Spinal muscular atrophy2 tests
Spinocerebellar ataxia 72 tests
Spinocerebellar ataxia type 12 tests
Spinocerebellar ataxia type 22 tests
Spinocerebellar ataxia type 251 test
Spinocerebellar ataxia type 62 tests
Spinocerebellar ataxia, autosomal recessive 241 test
Spondyloepiphyseal dysplasia congenita1 test
Steinert myotonic dystrophy syndrome1 test
Sterol carrier protein 2 deficiency1 test
Stickler syndrome type 22 tests
Stickler syndrome, type 41 test
Stickler syndrome, type 51 test
Stickler syndrome, type 61 test
Stromme syndrome1 test
Sturge-Weber syndrome1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Supravalvar aortic stenosis2 tests
Surfactant metabolism dysfunction, pulmonary, 12 tests
Surfactant metabolism dysfunction, pulmonary, 22 tests
Surfactant metabolism dysfunction, pulmonary, 42 tests
Surfactant metabolism dysfunction, pulmonary, 51 test
Syndromic X-linked intellectual disability 141 test
Syndromic X-linked intellectual disability Claes-Jensen type2 tests
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Nascimento type2 tests
Syndromic X-linked intellectual disability Snyder type1 test
TWIST1-related craniosynostosis1 test
Tatton-Brown-Rahman overgrowth syndrome1 test
Tay-Sachs disease1 test
Telangiectasia, hereditary hemorrhagic, type 12 tests
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 52 tests
Temple-Baraitser syndrome1 test
Tetralogy of Fallot1 test
Thanatophoric dysplasia type 12 tests
Timothy syndrome1 test
Trichohepatoenteric syndrome 11 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Type 1 diabetes mellitus 21 test
Type 2 diabetes mellitus1 test
Tyrosinase-positive oculocutaneous albinism1 test
Tyrosinemia type I1 test
Uniparental disomy of 71 test
Unverricht-Lundborg syndrome1 test
Usher syndrome type 11 test
Usher syndrome type 1C1 test
Usher syndrome type 1D1 test
Usher syndrome type 1G1 test
Usher syndrome type 1J1 test
Usher syndrome type 2A1 test
Usher syndrome type 2C1 test
Usher syndrome type 2D1 test
Usher syndrome type 31 test
Usher syndrome, type 41 test
Ventricular septal defect 31 test
Very long chain acyl-CoA dehydrogenase deficiency2 tests
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Waardenburg syndrome, IIa 2F1 test
Weaver syndrome3 tests
Wiedemann-Steiner syndrome2 tests
Williams syndrome2 tests
Wolff-Parkinson-White pattern2 tests
Wolfram syndrome 21 test
Wolfram-like syndrome1 test
Wolman disease2 tests
X inactivation, familial skewed, 11 test
X inactivation, familial skewed, 21 test
X-linked Alport syndrome1 test
X-linked Emery-Dreifuss muscular dystrophy2 tests
X-linked Opitz G/BBB syndrome1 test
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
X-linked intellectual disability Cabezas type2 tests
X-linked intellectual disability, Cantagrel type1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked mixed hearing loss with perilymphatic gusher1 test
X-linked myopathy with postural muscle atrophy1 test
X-linked scapuloperoneal muscular dystrophy1 test
Zellweger spectrum disorders1 test
Zimmermann-Laband syndrome 11 test
Zimmermann-Laband syndrome 21 test