MGZ Medical Genetics Center
General information
MGZ Medical Genetics Center
München
Bayern
Germany - 80335
http://www.mgz-muenchen.de/homepage.html
Organization ID: 255845
München
Bayern
Germany - 80335
http://www.mgz-muenchen.de/homepage.html
Organization ID: 255845
Personnel
- Andreas Laner, Contact
Phone: 00498930908860
Email: ClinVar_submissions@mgz-muenchen.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3103
Gene
Gene | Submissions | Last Updated |
---|---|---|
AAAS | 3 | Oct 6, 2022 |
AARS1 | 2 | Oct 6, 2022 |
AARS2 | 2 | Oct 6, 2022 |
ABCA1 | 1 | Oct 6, 2022 |
ABCA4 | 18 | Oct 6, 2022 |
ABCB11 | 2 | Oct 6, 2022 |
ABCC2 | 1 | Oct 6, 2022 |
ABCC6 | 3 | Oct 6, 2022 |
ABCC8 | 4 | Oct 6, 2022 |
ABCC9 | 1 | Oct 6, 2022 |
ABCD1 | 5 | Oct 6, 2022 |
ABHD14A-ACY1 | 1 | Oct 6, 2022 |
ABL1 | 1 | Oct 6, 2022 |
ACAD9 | 7 | Oct 6, 2022 |
ACADM | 7 | Oct 6, 2022 |
ACADS | 3 | Oct 6, 2022 |
ACADVL | 1 | Oct 6, 2022 |
ACAN | 2 | Oct 6, 2022 |
ACO2 | 3 | Oct 6, 2022 |
ACSL4 | 1 | Oct 6, 2022 |
ACTA1 | 2 | Oct 6, 2022 |
ACTA2 | 1 | Oct 6, 2022 |
ACTC1 | 1 | Oct 6, 2022 |
ACTG1 | 3 | Oct 6, 2022 |
ACTG2 | 1 | Oct 6, 2022 |
ACTL6B | 1 | Oct 6, 2022 |
ACTN2 | 1 | Oct 6, 2022 |
ACVR1 | 1 | Oct 6, 2022 |
ACVRL1 | 3 | Oct 6, 2022 |
ACY1 | 1 | Oct 6, 2022 |
ADAMTSL4 | 2 | Oct 6, 2022 |
ADAMTSL4-AS2 | 2 | Oct 6, 2022 |
ADAR | 1 | Oct 6, 2022 |
ADAT3 | 3 | Oct 6, 2022 |
ADCY5 | 2 | Oct 6, 2022 |
ADGRV1 | 1 | Oct 6, 2022 |
ADNP | 2 | Oct 6, 2022 |
ADSL | 2 | Oct 6, 2022 |
ADSS1 | 1 | Oct 6, 2022 |
AFF3 | 1 | Oct 6, 2022 |
AFG2A | 4 | Oct 6, 2022 |
AFG2B | 1 | Oct 6, 2022 |
AFG3L2 | 1 | Oct 6, 2022 |
AHDC1 | 2 | Oct 6, 2022 |
AKAP9 | 2 | Oct 6, 2022 |
ALDH7A1 | 2 | Oct 6, 2022 |
ALG8 | 2 | Oct 6, 2022 |
ALMS1 | 2 | Oct 6, 2022 |
ALPL | 5 | Oct 6, 2022 |
ALS2 | 1 | Oct 6, 2022 |
AMACR | 2 | Oct 6, 2022 |
ANK2 | 3 | Oct 6, 2022 |
ANK3 | 1 | Oct 6, 2022 |
ANKRD11 | 11 | Oct 6, 2022 |
ANO3 | 1 | Oct 6, 2022 |
ANO5 | 14 | Oct 6, 2022 |
AP4B1 | 1 | Oct 6, 2022 |
AP4B1-AS1 | 1 | Oct 6, 2022 |
AP4E1 | 1 | Oct 6, 2022 |
APC | 17 | Oct 6, 2022 |
APOA5 | 2 | Oct 6, 2022 |
APOB | 3 | Oct 6, 2022 |
AR | 1 | Oct 6, 2022 |
ARF1 | 1 | Oct 6, 2022 |
ARHGEF10 | 2 | Oct 6, 2022 |
ARHGEF9 | 1 | Oct 6, 2022 |
ARID1A | 3 | Oct 6, 2022 |
ARID1B | 4 | Oct 6, 2022 |
ARID2 | 1 | Oct 6, 2022 |
ARL6 | 1 | Oct 6, 2022 |
ARSA | 2 | Oct 6, 2022 |
ARSB | 1 | Oct 6, 2022 |
ARX | 1 | Oct 6, 2022 |
ASAH1 | 1 | Oct 6, 2022 |
ASH1L | 2 | Oct 6, 2022 |
ASL | 1 | Oct 6, 2022 |
ASNS | 1 | Oct 6, 2022 |
ASPM | 2 | Oct 6, 2022 |
ASXL1 | 1 | Oct 6, 2022 |
ASXL3 | 5 | Oct 6, 2022 |
ATAD3A | 1 | Oct 6, 2022 |
ATL1 | 2 | Oct 6, 2022 |
ATM | 84 | Oct 6, 2022 |
ATP1A2 | 3 | Oct 6, 2022 |
ATP1A3 | 5 | Oct 6, 2022 |
ATP2A1 | 2 | Oct 6, 2022 |
ATP2A2 | 1 | Oct 6, 2022 |
ATP6V1A | 1 | Oct 6, 2022 |
ATP7A | 1 | Oct 6, 2022 |
ATP7B | 2 | Oct 6, 2022 |
ATP8B1 | 2 | Oct 6, 2022 |
ATRX | 3 | Oct 6, 2022 |
ATXN7L3-AS1 | 1 | Oct 6, 2022 |
AUTS2 | 1 | Oct 6, 2022 |
AVIL | 1 | Oct 6, 2022 |
AXIN2 | 2 | Oct 6, 2022 |
B3GALNT2 | 1 | Oct 6, 2022 |
B3GLCT | 1 | Oct 6, 2022 |
B4GAT1 | 1 | Oct 6, 2022 |
BAP1 | 3 | Oct 6, 2022 |
BARD1 | 19 | Jul 17, 2023 |
BBS10 | 1 | Oct 6, 2022 |
BCHE | 1 | Oct 6, 2022 |
BCL11A | 2 | Jul 17, 2023 |
BEST1 | 7 | Oct 6, 2022 |
BHLHA9 | 1 | Oct 6, 2022 |
BICC1 | 1 | Oct 6, 2022 |
BICD2 | 1 | Oct 6, 2022 |
BICRA | 2 | Oct 6, 2022 |
BLM | 1 | Oct 6, 2022 |
BMPR1A | 2 | Oct 6, 2022 |
BPTF | 4 | Oct 6, 2022 |
BRAF | 2 | Oct 6, 2022 |
BRAT1 | 1 | Oct 6, 2022 |
BRCA1 | 72 | Jun 11, 2024 |
BRCA2 | 134 | Jun 11, 2024 |
BRIP1 | 19 | Oct 6, 2022 |
BRPF1 | 1 | Oct 6, 2022 |
BRWD3 | 1 | Oct 6, 2022 |
BSCL2 | 3 | Oct 6, 2022 |
BTD | 6 | Oct 6, 2022 |
BTK | 1 | Oct 6, 2022 |
C11orf65 | 31 | Oct 6, 2022 |
C17orf107 | 2 | Oct 6, 2022 |
C1QTNF3-AMACR | 2 | Oct 6, 2022 |
CACNA1A | 13 | Oct 6, 2022 |
CACNA1C | 3 | Oct 6, 2022 |
CACNA1C-AS1 | 1 | Oct 6, 2022 |
CACNA1F | 3 | Oct 6, 2022 |
CACNA1G | 1 | Oct 6, 2022 |
CACNA1S | 5 | Oct 6, 2022 |
CALM2 | 1 | Oct 6, 2022 |
CAMK2A | 1 | Oct 6, 2022 |
CAPN3 | 15 | Oct 6, 2022 |
CARD8 | 1 | Oct 6, 2022 |
CASD1 | 4 | Oct 6, 2022 |
CASK | 1 | Oct 6, 2022 |
CASR | 3 | Oct 6, 2022 |
CAV3 | 2 | Oct 6, 2022 |
CBL | 2 | Oct 6, 2022 |
CC2D2A | 1 | Oct 6, 2022 |
CCDST | 3 | Oct 6, 2022 |
CCM2 | 1 | Oct 6, 2022 |
CCND2 | 1 | Oct 6, 2022 |
CDC73 | 2 | Oct 6, 2022 |
CDH1 | 12 | Oct 6, 2022 |
CDH23 | 1 | Oct 6, 2022 |
CDK13 | 4 | Oct 6, 2022 |
CDK5RAP2 | 1 | Oct 6, 2022 |
CDKL5 | 4 | Oct 6, 2022 |
CDKN1C | 1 | Oct 6, 2022 |
CDKN2A | 4 | Oct 6, 2022 |
CENPF | 2 | Oct 6, 2022 |
CEP152 | 2 | Oct 6, 2022 |
CEP290 | 4 | Oct 6, 2022 |
CEP57 | 1 | Oct 6, 2022 |
CEP85L | 2 | Oct 6, 2022 |
CERKL | 1 | Oct 6, 2022 |
CFTR | 30 | Oct 6, 2022 |
CFTR-AS1 | 5 | Oct 6, 2022 |
CHAMP1 | 1 | Oct 6, 2022 |
CHD1 | 1 | Oct 6, 2022 |
CHD2 | 2 | Oct 6, 2022 |
CHD3 | 5 | Oct 6, 2022 |
CHD4 | 1 | Oct 6, 2022 |
CHD7 | 8 | Oct 6, 2022 |
CHD8 | 3 | Oct 6, 2022 |
CHEK2 | 33 | Oct 6, 2022 |
CHRNA2 | 1 | Oct 6, 2022 |
CHRND | 3 | Oct 6, 2022 |
CHRNE | 4 | Oct 6, 2022 |
CHST6 | 3 | Oct 6, 2022 |
CIB2 | 1 | Oct 6, 2022 |
CIC | 1 | Oct 6, 2022 |
CLCN1 | 22 | Oct 6, 2022 |
CLCN6 | 1 | Oct 6, 2022 |
CLN6 | 1 | Oct 6, 2022 |
CLTC | 2 | Oct 6, 2022 |
CNGA3 | 1 | Oct 6, 2022 |
CNNM2 | 1 | Oct 6, 2022 |
CNOT1 | 1 | Oct 6, 2022 |
CNOT3 | 2 | Oct 6, 2022 |
CNTNAP2 | 2 | Oct 6, 2022 |
COL11A1 | 3 | Oct 6, 2022 |
COL11A2 | 1 | Oct 6, 2022 |
COL12A1 | 3 | Oct 6, 2022 |
COL17A1 | 1 | Oct 6, 2022 |
COL18A1 | 5 | Oct 6, 2022 |
COL1A1 | 9 | Oct 6, 2022 |
COL1A2 | 10 | Oct 6, 2022 |
COL2A1 | 9 | Oct 6, 2022 |
COL3A1 | 7 | Oct 6, 2022 |
COL4A1 | 7 | Oct 6, 2022 |
COL4A2 | 2 | Oct 6, 2022 |
COL4A2-AS1 | 1 | Oct 6, 2022 |
COL4A3 | 6 | Oct 6, 2022 |
COL4A4 | 2 | Oct 6, 2022 |
COL4A5 | 7 | Oct 6, 2022 |
COL5A1 | 14 | Oct 6, 2022 |
COL5A2 | 2 | Oct 6, 2022 |
COL6A1 | 2 | Oct 6, 2022 |
COL6A2 | 6 | Oct 6, 2022 |
COL6A3 | 10 | Oct 6, 2022 |
COL7A1 | 1 | Oct 6, 2022 |
COLQ | 2 | Oct 6, 2022 |
COMP | 2 | Oct 6, 2022 |
COQ4 | 1 | Oct 6, 2022 |
CP | 1 | Oct 6, 2022 |
CPOX | 1 | Oct 6, 2022 |
CPS1 | 1 | Oct 6, 2022 |
CPT1C | 1 | Oct 6, 2022 |
CPT2 | 5 | Oct 6, 2022 |
CRB1 | 2 | Oct 6, 2022 |
CREBBP | 4 | Oct 6, 2022 |
CRIPT | 1 | Oct 6, 2022 |
CRPPA | 1 | Oct 6, 2022 |
CRX | 1 | Oct 6, 2022 |
CRYAA | 2 | Oct 6, 2022 |
CRYAB | 1 | Oct 6, 2022 |
CRYBA1 | 1 | Oct 6, 2022 |
CRYBB2 | 1 | Oct 6, 2022 |
CRYBB3 | 1 | Oct 6, 2022 |
CRYGC | 1 | Oct 6, 2022 |
CSF1R | 1 | Oct 6, 2022 |
CSGALNACT1 | 1 | Oct 6, 2022 |
CSNK2A1 | 2 | Oct 6, 2022 |
CSNK2B | 2 | Oct 6, 2022 |
CTNNB1 | 2 | Oct 6, 2022 |
CTRC | 2 | Oct 6, 2022 |
CUBN | 2 | Oct 6, 2022 |
CUL3 | 3 | Oct 6, 2022 |
CUL4B | 2 | Oct 6, 2022 |
CUX2 | 2 | Oct 6, 2022 |
CWF19L1 | 1 | Oct 6, 2022 |
CYCS | 1 | Oct 6, 2022 |
CYP17A1 | 2 | Oct 6, 2022 |
CYP21A2 | 1 | Oct 6, 2022 |
CYP27A1 | 1 | Oct 6, 2022 |
CYP2U1 | 2 | Oct 6, 2022 |
CYP7B1 | 1 | Oct 6, 2022 |
CZ1P-ASNS | 1 | Oct 6, 2022 |
DACT1 | 1 | Oct 6, 2022 |
DAG1 | 1 | Oct 6, 2022 |
DALRD3 | 1 | Oct 6, 2022 |
DCHS1 | 2 | Oct 6, 2022 |
DCTN5 | 1 | Oct 6, 2022 |
DCX | 1 | Oct 6, 2022 |
DDHD2 | 2 | Oct 6, 2022 |
DDX3X | 2 | Oct 6, 2022 |
DEAF1 | 1 | Oct 6, 2022 |
DEPDC5 | 1 | Oct 6, 2022 |
DES | 3 | Oct 6, 2022 |
DGUOK | 1 | Oct 6, 2022 |
DHCR7 | 3 | Oct 6, 2022 |
DHFR | 1 | Oct 6, 2022 |
DHTKD1 | 2 | Oct 6, 2022 |
DHX37 | 1 | Oct 6, 2022 |
DICER1 | 4 | Oct 6, 2022 |
DIS3L2 | 1 | Oct 6, 2022 |
DISP1 | 1 | Oct 6, 2022 |
DLG4 | 2 | Oct 6, 2022 |
DLL1 | 2 | Oct 6, 2022 |
DMD | 14 | Oct 6, 2022 |
DNA2 | 1 | Oct 6, 2022 |
DNAAF1 | 2 | Oct 6, 2022 |
DNAH11 | 1 | Oct 6, 2022 |
DNAJB2 | 1 | Oct 6, 2022 |
DNAJC30 | 1 | Oct 6, 2022 |
DNM1 | 1 | Oct 6, 2022 |
DNM2 | 5 | Oct 6, 2022 |
DNMT1 | 1 | Oct 6, 2022 |
DNMT3A | 2 | Oct 6, 2022 |
DOK7 | 2 | Oct 6, 2022 |
DPY19L2 | 1 | Oct 6, 2022 |
DPYS | 1 | Oct 6, 2022 |
DSC2 | 1 | Oct 6, 2022 |
DSG2 | 1 | Oct 6, 2022 |
DSP | 3 | Oct 6, 2022 |
DSPP | 1 | Oct 6, 2022 |
DVL1 | 1 | Oct 6, 2022 |
DYNC1H1 | 6 | Oct 6, 2022 |
DYNC2H1 | 2 | Oct 6, 2022 |
DYRK1A | 5 | Oct 6, 2022 |
DYSF | 10 | Oct 6, 2022 |
EBF3 | 2 | Oct 6, 2022 |
EDA | 1 | Oct 6, 2022 |
EEF1A2 | 2 | Oct 6, 2022 |
EFHC1 | 2 | Oct 6, 2022 |
EFTUD2 | 1 | Oct 6, 2022 |
EHMT1 | 3 | Oct 6, 2022 |
EIF2B5 | 3 | Oct 6, 2022 |
EIF3F | 2 | Oct 6, 2022 |
ELANE | 1 | Oct 6, 2022 |
ELP1 | 1 | Oct 6, 2022 |
ELP4 | 1 | Oct 6, 2022 |
EMD | 1 | Oct 6, 2022 |
ENG | 1 | Oct 6, 2022 |
EP300 | 3 | Oct 6, 2022 |
EPCAM | 1 | Oct 6, 2022 |
EPHA2 | 1 | Oct 6, 2022 |
ERCC2 | 1 | Oct 6, 2022 |
ERCC4 | 2 | Oct 6, 2022 |
ETFA | 1 | Oct 6, 2022 |
ETFB | 1 | Oct 6, 2022 |
ETFDH | 4 | Oct 6, 2022 |
ETHE1 | 2 | Oct 6, 2022 |
EXOSC3 | 2 | Oct 6, 2022 |
EXT1 | 2 | Oct 6, 2022 |
EXT2 | 2 | Oct 6, 2022 |
EYA1 | 3 | Oct 6, 2022 |
EYS | 9 | Oct 6, 2022 |
EZH2 | 1 | Oct 6, 2022 |
F7 | 1 | Oct 6, 2022 |
FA2H | 1 | Oct 6, 2022 |
FANCA | 1 | Oct 6, 2022 |
FARS2 | 1 | Oct 6, 2022 |
FBLN5 | 1 | Oct 6, 2022 |
FBN1 | 13 | Oct 6, 2022 |
FBN2 | 2 | Oct 6, 2022 |
FBXO11 | 1 | Oct 6, 2022 |
FBXO38 | 1 | Oct 6, 2022 |
FECH | 1 | Oct 6, 2022 |
FGA | 1 | Oct 6, 2022 |
FGD1 | 2 | Oct 6, 2022 |
FGD4 | 1 | Oct 6, 2022 |
FGF8 | 1 | Oct 6, 2022 |
FGFR1 | 1 | Oct 6, 2022 |
FGFR2 | 1 | Oct 6, 2022 |
FGFR3 | 5 | Oct 6, 2022 |
FH | 10 | Oct 6, 2022 |
FHL1 | 1 | Oct 6, 2022 |
FHOD3 | 1 | Oct 6, 2022 |
FIG4 | 5 | Oct 6, 2022 |
FKRP | 5 | Oct 6, 2022 |
FLCN | 8 | Oct 6, 2022 |
FLG | 3 | Oct 6, 2022 |
FLNB | 1 | Oct 6, 2022 |
FLNC | 2 | Oct 6, 2022 |
FLNC-AS1 | 1 | Oct 6, 2022 |
FLRT3 | 1 | Oct 6, 2022 |
FLVCR1 | 2 | Oct 6, 2022 |
FOXE3 | 2 | Oct 6, 2022 |
FOXF1 | 1 | Jan 19, 2024 |
FOXL2 | 2 | Oct 6, 2022 |
FOXP1 | 3 | Oct 6, 2022 |
FOXP2 | 1 | Oct 6, 2022 |
FOXRED1 | 2 | Oct 6, 2022 |
FRAS1 | 1 | Oct 6, 2022 |
FREM2 | 1 | Oct 6, 2022 |
FRMPD4 | 1 | Oct 6, 2022 |
FSHR | 2 | Oct 6, 2022 |
FSIP2 | 2 | Oct 6, 2022 |
FSIP2-AS1 | 1 | Oct 6, 2022 |
FTL | 1 | Oct 6, 2022 |
FUS | 2 | Oct 6, 2022 |
FYCO1 | 1 | Oct 6, 2022 |
G6PD | 4 | Oct 6, 2022 |
GAA | 11 | Oct 6, 2022 |
GABBR2 | 5 | Oct 6, 2022 |
GABRA2 | 1 | Oct 6, 2022 |
GABRB2 | 2 | Oct 6, 2022 |
GABRB3 | 1 | Oct 6, 2022 |
GABRG2 | 3 | Oct 6, 2022 |
GALC | 6 | Oct 6, 2022 |
GALNT2 | 2 | Oct 6, 2022 |
GALT | 2 | Oct 6, 2022 |
GAN | 1 | Oct 6, 2022 |
GARS1 | 1 | Oct 6, 2022 |
GBE1 | 3 | Oct 6, 2022 |
GCH1 | 1 | Oct 6, 2022 |
GCK | 9 | Oct 6, 2022 |
GDAP1 | 9 | Oct 6, 2022 |
GEMIN5 | 1 | Oct 6, 2022 |
GFAP | 1 | Oct 6, 2022 |
GFPT1 | 1 | Oct 6, 2022 |
GH-LCR | 17 | Oct 6, 2022 |
GHR | 1 | Oct 6, 2022 |
GJA8 | 1 | Oct 6, 2022 |
GJB1 | 9 | Oct 6, 2022 |
GJB2 | 9 | Oct 6, 2022 |
GJD2-DT | 1 | Oct 6, 2022 |
GLA | 3 | Oct 6, 2022 |
GLB1 | 5 | Oct 6, 2022 |
GLI1 | 1 | Oct 6, 2022 |
GLI3 | 2 | Oct 6, 2022 |
GLMN | 1 | Oct 6, 2022 |
GMPPB | 3 | Oct 6, 2022 |
GNAO1 | 2 | Oct 6, 2022 |
GNAS | 1 | Oct 6, 2022 |
GNB1 | 2 | Oct 6, 2022 |
GNB5 | 1 | Oct 6, 2022 |
GNE | 3 | Oct 6, 2022 |
GNPTAB | 2 | Oct 6, 2022 |
GNRHR | 2 | Oct 6, 2022 |
GOT2 | 1 | Oct 6, 2022 |
GP1BA | 1 | Oct 6, 2022 |
GPAA1 | 2 | Oct 6, 2022 |
GPC3 | 1 | Oct 6, 2022 |
GPHN | 3 | Oct 6, 2022 |
GPIHBP1 | 1 | Oct 6, 2022 |
GPR143 | 1 | Oct 6, 2022 |
GRHPR | 1 | Oct 6, 2022 |
GRIA3 | 1 | Oct 6, 2022 |
GRIN1 | 1 | Oct 6, 2022 |
GRIN2A | 4 | Oct 6, 2022 |
GRIN2B | 3 | Oct 6, 2022 |
GRIN2D | 2 | Oct 6, 2022 |
GRM6 | 1 | Oct 6, 2022 |
GRN | 2 | Oct 6, 2022 |
GUCA1A | 1 | Oct 6, 2022 |
GUCA1ANB-GUCA1A | 1 | Oct 6, 2022 |
GYG1 | 2 | Oct 6, 2022 |
HADHB | 1 | Oct 6, 2022 |
HARS1 | 1 | Oct 6, 2022 |
HBA-LCR | 1 | Oct 6, 2022 |
HBB | 14 | Oct 6, 2022 |
HCN1 | 1 | Oct 6, 2022 |
HCN4 | 1 | Oct 6, 2022 |
HERC2 | 2 | Oct 6, 2022 |
HESX1 | 1 | Oct 6, 2022 |
HEXA | 6 | Oct 6, 2022 |
HEXB | 1 | Oct 6, 2022 |
HFE | 1 | Oct 6, 2022 |
HGSNAT | 2 | Oct 6, 2022 |
HINT1 | 1 | Oct 6, 2022 |
HIVEP2 | 1 | Oct 6, 2022 |
HJV | 1 | Oct 6, 2022 |
HK1 | 2 | Oct 6, 2022 |
HMBS | 1 | Oct 6, 2022 |
HNF1A | 3 | Oct 6, 2022 |
HNF1B | 1 | Oct 6, 2022 |
HNF4A | 2 | Oct 6, 2022 |
HNRNPH2 | 1 | Oct 6, 2022 |
HNRNPK | 1 | Oct 6, 2022 |
HNRNPK-AS1 | 1 | Oct 6, 2022 |
HNRNPUL2-BSCL2 | 3 | Oct 6, 2022 |
HOXB13 | 1 | Oct 6, 2022 |
HRAS | 1 | Oct 6, 2022 |
HSALR1 | 1 | Oct 6, 2022 |
HSD3B2 | 1 | Oct 6, 2022 |
HSF4 | 1 | Oct 6, 2022 |
HSPB1 | 3 | Oct 6, 2022 |
HSPB8 | 1 | Oct 6, 2022 |
HTRA1 | 2 | Oct 6, 2022 |
HUWE1 | 3 | Oct 6, 2022 |
IDS | 5 | Oct 6, 2022 |
IDUA | 2 | Oct 6, 2022 |
IFT140 | 2 | Oct 6, 2022 |
IGF1R | 1 | Oct 6, 2022 |
IGF2 | 1 | Oct 6, 2022 |
IGHMBP2 | 3 | Oct 6, 2022 |
IGSF1 | 1 | Oct 6, 2022 |
IL36RN | 1 | Oct 6, 2022 |
IMPG1 | 1 | Oct 6, 2022 |
IMPG2 | 3 | Oct 6, 2022 |
INF2 | 2 | Oct 6, 2022 |
INPPL1 | 1 | Oct 6, 2022 |
INS | 2 | Oct 6, 2022 |
INS-IGF2 | 2 | Oct 6, 2022 |
INSR | 1 | Oct 6, 2022 |
IQSEC2 | 2 | Oct 6, 2022 |
IRAK1BP1 | 2 | Oct 6, 2022 |
IRF2BPL | 1 | Oct 6, 2022 |
ITGA2B | 1 | Oct 6, 2022 |
ITGB4 | 2 | Oct 6, 2022 |
ITGB6 | 1 | Oct 6, 2022 |
ITPR1 | 3 | Oct 6, 2022 |
JAG1 | 3 | Oct 6, 2022 |
JUP | 2 | Oct 6, 2022 |
KAT6A | 3 | Oct 6, 2022 |
KBTBD13 | 1 | Oct 6, 2022 |
KCNA1 | 2 | Oct 6, 2022 |
KCNA2 | 3 | Oct 6, 2022 |
KCNB1 | 3 | Oct 6, 2022 |
KCNC3 | 1 | Oct 6, 2022 |
KCNH2 | 2 | Oct 6, 2022 |
KCNJ2 | 1 | Oct 6, 2022 |
KCNK3 | 1 | Oct 6, 2022 |
KCNN4 | 1 | Oct 6, 2022 |
KCNQ1 | 11 | Oct 6, 2022 |
KCNQ1-AS1 | 1 | Oct 6, 2022 |
KCNQ2 | 10 | Oct 6, 2022 |
KCNQ4 | 1 | Oct 6, 2022 |
KCNT1 | 1 | Oct 6, 2022 |
KDM5C | 3 | Oct 6, 2022 |
KDM6A | 1 | Oct 6, 2022 |
KDM6B | 2 | Oct 6, 2022 |
KIAA0586 | 1 | Oct 6, 2022 |
KIAA1549 | 1 | Oct 6, 2022 |
KIDINS220 | 1 | Oct 6, 2022 |
KIF11 | 3 | Oct 6, 2022 |
KIF1A | 4 | Oct 6, 2022 |
KIF21A | 4 | Oct 6, 2022 |
KIF5A | 6 | Oct 6, 2022 |
KIT | 1 | Oct 6, 2022 |
KLF9-DT | 1 | Oct 6, 2022 |
KLHL40 | 2 | Oct 6, 2022 |
KMT2A | 6 | Oct 6, 2022 |
KMT2B | 2 | Oct 6, 2022 |
KMT2C | 6 | Oct 6, 2022 |
KMT2D | 7 | Oct 6, 2022 |
KMT2E | 3 | Oct 6, 2022 |
KMT5B | 1 | Oct 6, 2022 |
KRIT1 | 3 | Oct 6, 2022 |
KRT17 | 1 | Oct 6, 2022 |
L1CAM | 1 | Oct 6, 2022 |
L2HGDH | 2 | Oct 6, 2022 |
LAMA1 | 4 | Oct 6, 2022 |
LAMA2 | 7 | Oct 6, 2022 |
LAMA3 | 1 | Oct 6, 2022 |
LARS2 | 2 | Oct 6, 2022 |
LBR | 2 | Oct 6, 2022 |
LDLR | 22 | Oct 6, 2022 |
LEPR | 1 | Oct 6, 2022 |
LGI1 | 1 | Oct 6, 2022 |
LINC01389 | 2 | Oct 6, 2022 |
LINS1 | 1 | Oct 6, 2022 |
LITAF | 1 | Oct 6, 2022 |
LMNA | 7 | Oct 6, 2022 |
LMX1B | 1 | Oct 6, 2022 |
LOC100506235 | 1 | Oct 6, 2022 |
LOC100507443 | 1 | Oct 6, 2022 |
LOC101448202 | 6 | Oct 6, 2022 |
LOC101928335 | 1 | Oct 6, 2022 |
LOC102724058 | 13 | Oct 6, 2022 |
LOC105369889 | 1 | Oct 6, 2022 |
LOC106050102 | 4 | Oct 6, 2022 |
LOC106099062 | 13 | Oct 6, 2022 |
LOC106780800 | 1 | Oct 6, 2022 |
LOC106780803 | 1 | Oct 6, 2022 |
LOC107133510 | 14 | Oct 6, 2022 |
LOC107303340 | 1 | Oct 6, 2022 |
LOC108281177 | 2 | Oct 6, 2022 |
LOC109610631 | 1 | Oct 6, 2022 |
LOC110006319 | 2 | Oct 6, 2022 |
LOC110121269 | 1 | Oct 6, 2022 |
LOC110806306 | 1 | Oct 6, 2022 |
LOC111674463 | 1 | Oct 6, 2022 |
LOC111674472 | 4 | Oct 6, 2022 |
LOC111674475 | 2 | Oct 6, 2022 |
LOC113839516 | 1 | Oct 6, 2022 |
LOC121627832 | 1 | Oct 6, 2022 |
LOC125177489 | 1 | Oct 6, 2022 |
LOC126805794 | 1 | Oct 6, 2022 |
LOC126806039 | 1 | Oct 6, 2022 |
LOC126806253 | 1 | Oct 6, 2022 |
LOC126806446 | 1 | Oct 6, 2022 |
LOC126806659 | 2 | Oct 6, 2022 |
LOC126806714 | 2 | Oct 6, 2022 |
LOC126806807 | 1 | Oct 6, 2022 |
LOC126806913 | 1 | Oct 6, 2022 |
LOC126806951 | 1 | Oct 6, 2022 |
LOC126807137 | 1 | Oct 6, 2022 |
LOC126861132 | 1 | Oct 6, 2022 |
LOC126861339 | 1 | Oct 6, 2022 |
LOC126861443 | 1 | Oct 6, 2022 |
LOC126861615 | 1 | Oct 6, 2022 |
LOC126861897 | 2 | Oct 6, 2022 |
LOC126861898 | 3 | Oct 6, 2022 |
LOC126862264 | 4 | Oct 6, 2022 |
LOC126862479 | 1 | Oct 6, 2022 |
LOC126862571 | 13 | Feb 14, 2024 |
LOC126862866 | 1 | Oct 6, 2022 |
LOC126862987 | 2 | Oct 6, 2022 |
LOC126863253 | 3 | Oct 6, 2022 |
LOC129391106 | 1 | Oct 6, 2022 |
LOC129929200 | 1 | Oct 6, 2022 |
LOC129931299 | 1 | Oct 6, 2022 |
LOC129934333 | 1 | Oct 6, 2022 |
LOC129935182 | 1 | Oct 6, 2022 |
LOC129935594 | 1 | Oct 6, 2022 |
LOC129992813 | 1 | Oct 6, 2022 |
LOC129998293 | 1 | Oct 6, 2022 |
LOC129998603 | 1 | Oct 6, 2022 |
LOC130007872 | 1 | Oct 6, 2022 |
LOC130008356 | 1 | Oct 6, 2022 |
LOC130008987 | 1 | Oct 6, 2022 |
LOC130009266 | 1 | Oct 6, 2022 |
LOC130057683 | 1 | Oct 6, 2022 |
LOC130059156 | 1 | Oct 6, 2022 |
LOC130059394 | 1 | Oct 6, 2022 |
LOC130061370 | 1 | Oct 6, 2022 |
LOC130062084 | 1 | Oct 6, 2022 |
LOC130062899 | 1 | Oct 6, 2022 |
LOC130064467 | 1 | Oct 6, 2022 |
LOC130067016 | 1 | Oct 6, 2022 |
LOXHD1 | 3 | Oct 6, 2022 |
LRP5 | 1 | Oct 6, 2022 |
LRRC56 | 1 | Oct 6, 2022 |
LRSAM1 | 3 | Oct 6, 2022 |
LRTOMT | 1 | Oct 6, 2022 |
LZTR1 | 14 | Oct 6, 2022 |
MACF1 | 1 | Oct 6, 2022 |
MACROD2 | 1 | Oct 6, 2022 |
MADD | 1 | Oct 6, 2022 |
MAF | 2 | Oct 6, 2022 |
MAGEL2 | 2 | Oct 6, 2022 |
MAN2B1 | 3 | Oct 6, 2022 |
MANBA | 1 | Oct 6, 2022 |
MAP1B | 2 | Oct 6, 2022 |
MAP2K1 | 1 | Oct 6, 2022 |
MAPK8IP3 | 1 | Oct 6, 2022 |
MBD5 | 2 | Oct 6, 2022 |
MC4R | 4 | Oct 6, 2022 |
MCM8 | 1 | Oct 6, 2022 |
MCM9 | 1 | Oct 6, 2022 |
MEA1 | 1 | Oct 6, 2022 |
MECP2 | 6 | Jul 17, 2023 |
MED12L | 2 | Oct 6, 2022 |
MED13L | 3 | Oct 6, 2022 |
MEFV | 13 | Oct 6, 2022 |
MEGF10 | 1 | Oct 6, 2022 |
MEGF8 | 1 | Oct 6, 2022 |
MEIS2 | 1 | Oct 6, 2022 |
MEN1 | 7 | Oct 6, 2022 |
MERTK | 1 | Oct 6, 2022 |
MET | 1 | Oct 6, 2022 |
MFAP5 | 1 | Oct 6, 2022 |
MFF-DT | 6 | Oct 6, 2022 |
MFN2 | 3 | Oct 6, 2022 |
MFSD8 | 2 | Oct 6, 2022 |
MHRT | 2 | Oct 6, 2022 |
MICU1 | 3 | Oct 6, 2022 |
MID2 | 1 | Oct 6, 2022 |
MKKS | 1 | Oct 6, 2022 |
MLH1 | 15 | Oct 6, 2022 |
MMAB | 2 | Oct 6, 2022 |
MMACHC | 3 | Oct 6, 2022 |
MME | 3 | Oct 6, 2022 |
MMUT | 2 | Oct 6, 2022 |
MN1 | 2 | Oct 6, 2022 |
MNS1 | 2 | Oct 6, 2022 |
MOCS2 | 1 | Oct 6, 2022 |
MORC2 | 1 | Oct 6, 2022 |
MPDZ | 2 | Oct 6, 2022 |
MPV17 | 3 | Oct 6, 2022 |
MPZ | 6 | Oct 6, 2022 |
MPZL2 | 1 | Oct 6, 2022 |
MSH2 | 17 | Oct 6, 2022 |
MSH3 | 4 | Oct 6, 2022 |
MSH6 | 24 | Oct 6, 2022 |
MSRB3 | 2 | Oct 6, 2022 |
MT-ATP6 | 3 | Oct 6, 2022 |
MT-ATP8 | 1 | Oct 6, 2022 |
MT-CO1 | 1 | Oct 6, 2022 |
MT-CO2 | 2 | Oct 6, 2022 |
MT-CO3 | 3 | Oct 6, 2022 |
MT-ND1 | 2 | Oct 6, 2022 |
MT-ND2 | 1 | Oct 6, 2022 |
MT-ND3 | 1 | Oct 6, 2022 |
MT-ND4 | 3 | Oct 6, 2022 |
MT-ND4L | 1 | Oct 6, 2022 |
MT-ND5 | 5 | Oct 6, 2022 |
MT-ND6 | 1 | Oct 6, 2022 |
MT-TA | 1 | Oct 6, 2022 |
MT-TC | 1 | Oct 6, 2022 |
MT-TD | 1 | Oct 6, 2022 |
MT-TE | 1 | Dec 9, 2019 |
MT-TG | 1 | Oct 6, 2022 |
MT-TH | 1 | Oct 6, 2022 |
MT-TI | 1 | Oct 6, 2022 |
MT-TK | 3 | Oct 6, 2022 |
MT-TL1 | 2 | Oct 6, 2022 |
MT-TM | 1 | Oct 6, 2022 |
MT-TN | 1 | Oct 6, 2022 |
MT-TQ | 1 | Oct 6, 2022 |
MT-TR | 1 | Oct 6, 2022 |
MT-TS1 | 2 | Oct 6, 2022 |
MT-TS2 | 1 | Oct 6, 2022 |
MT-TW | 1 | Oct 6, 2022 |
MT-TY | 1 | Oct 6, 2022 |
MTHFR | 2 | Oct 6, 2022 |
MTM1 | 4 | Oct 6, 2022 |
MUTYH | 14 | Oct 6, 2022 |
MVK | 1 | Oct 6, 2022 |
MVP-DT | 7 | Oct 6, 2022 |
MYBPC3 | 9 | Oct 6, 2022 |
MYCN | 2 | Oct 6, 2022 |
MYCNOS | 2 | Oct 6, 2022 |
MYH11 | 7 | Oct 6, 2022 |
MYH14 | 1 | Oct 6, 2022 |
MYH2 | 1 | Oct 6, 2022 |
MYH6 | 3 | Oct 6, 2022 |
MYH7 | 12 | Oct 6, 2022 |
MYH9 | 2 | Oct 6, 2022 |
MYHAS | 1 | Oct 6, 2022 |
MYL2 | 2 | Oct 6, 2022 |
MYLK | 2 | Oct 6, 2022 |
MYO5B | 2 | Oct 6, 2022 |
MYO6 | 2 | Oct 6, 2022 |
MYO7A | 2 | Oct 6, 2022 |
MYORG | 2 | Oct 6, 2022 |
MYOT | 2 | Oct 6, 2022 |
MYPN | 2 | Oct 6, 2022 |
MYT1L | 3 | Oct 6, 2022 |
NAA15 | 1 | Oct 6, 2022 |
NBEA | 1 | Oct 6, 2022 |
NCAPH2 | 3 | Oct 6, 2022 |
NDE1 | 3 | Oct 6, 2022 |
NDNF | 1 | Oct 6, 2022 |
NDST1 | 1 | Oct 6, 2022 |
NDUFA9 | 1 | Oct 6, 2022 |
NDUFS2 | 2 | Oct 6, 2022 |
NDUFS6 | 1 | Oct 6, 2022 |
NDUFS8 | 1 | Oct 6, 2022 |
NEB | 7 | Oct 6, 2022 |
NEFL | 4 | Oct 6, 2022 |
NEK1 | 1 | Oct 6, 2022 |
NEXMIF | 1 | Oct 6, 2022 |
NF1 | 58 | Jul 17, 2023 |
NF2 | 3 | Oct 6, 2022 |
NFIA | 1 | Oct 6, 2022 |
NFIB | 2 | Oct 6, 2022 |
NFIX | 1 | Oct 6, 2022 |
NFKB2 | 1 | Oct 6, 2022 |
NHS | 2 | Oct 6, 2022 |
NIPBL | 3 | Oct 6, 2022 |
NKIRAS1 | 1 | Oct 6, 2022 |
NKX2-5 | 1 | Oct 6, 2022 |
NLGN4X | 1 | Oct 6, 2022 |
NLRP12 | 2 | Oct 6, 2022 |
NLRP3 | 2 | Oct 6, 2022 |
NOBOX | 1 | Oct 6, 2022 |
NOTCH1 | 2 | Oct 6, 2022 |
NOTCH2 | 3 | Oct 6, 2022 |
NOTCH3 | 22 | Oct 6, 2022 |
NPHP1 | 1 | Oct 6, 2022 |
NPRL3 | 2 | Oct 6, 2022 |
NR0B1 | 1 | Oct 6, 2022 |
NR3C2 | 1 | Oct 6, 2022 |
NR5A1 | 1 | Oct 6, 2022 |
NSD1 | 10 | Oct 6, 2022 |
NSD2 | 2 | Oct 6, 2022 |
NT5C2 | 1 | Oct 6, 2022 |
NTHL1 | 5 | Oct 6, 2022 |
NTRK1 | 1 | Oct 6, 2022 |
NUS1 | 4 | Oct 6, 2022 |
NYX | 2 | Oct 6, 2022 |
OCA2 | 9 | Oct 6, 2022 |
OFD1 | 1 | Oct 6, 2022 |
OGT | 1 | Oct 6, 2022 |
OPA1 | 13 | Oct 6, 2022 |
OPA3 | 1 | Oct 6, 2022 |
OPHN1 | 1 | Oct 6, 2022 |
ORAI1 | 1 | Oct 6, 2022 |
OTC | 3 | Oct 6, 2022 |
OTOG | 1 | Oct 6, 2022 |
OTOGL | 2 | Oct 6, 2022 |
OXTR | 1 | Oct 6, 2022 |
P2RY12 | 1 | Oct 6, 2022 |
PACS2 | 1 | Oct 6, 2022 |
PAH | 5 | Oct 6, 2022 |
PAK1 | 1 | Oct 6, 2022 |
PALB2 | 31 | Jul 17, 2023 |
PAX2 | 1 | Oct 6, 2022 |
PAX6 | 1 | Oct 6, 2022 |
PAX8 | 1 | Oct 6, 2022 |
PAX8-AS1 | 1 | Oct 6, 2022 |
PCDH15 | 2 | Oct 6, 2022 |
PCDH19 | 2 | Oct 6, 2022 |
PDE6A | 2 | Oct 6, 2022 |
PDE6C | 2 | Oct 6, 2022 |
PDHA1 | 2 | Oct 6, 2022 |
PDHX | 1 | Oct 6, 2022 |
PDK3 | 1 | Oct 6, 2022 |
PEX2 | 2 | Oct 6, 2022 |
PGK1 | 1 | Oct 6, 2022 |
PHEX | 1 | Oct 6, 2022 |
PHF3 | 2 | Oct 6, 2022 |
PHF6 | 1 | Oct 6, 2022 |
PHIP | 4 | Oct 6, 2022 |
PHKA1 | 2 | Oct 6, 2022 |
PHKA2 | 1 | Oct 6, 2022 |
PHKB | 1 | Oct 6, 2022 |
PIEZO1 | 2 | Oct 6, 2022 |
PIEZO2 | 2 | Oct 6, 2022 |
PIGN | 1 | Oct 6, 2022 |
PIGO | 2 | Oct 6, 2022 |
PIGT | 2 | Oct 6, 2022 |
PIK3CA | 2 | Oct 6, 2022 |
PIK3R2 | 1 | Oct 6, 2022 |
PITX2 | 1 | Oct 6, 2022 |
PKD1 | 16 | Oct 6, 2022 |
PKD1-AS1 | 1 | Oct 6, 2022 |
PKD2 | 8 | Oct 6, 2022 |
PKD2L2-DT | 2 | Oct 6, 2022 |
PKHD1 | 7 | Oct 6, 2022 |
PKP2 | 3 | Oct 6, 2022 |
PLA2G6 | 2 | Oct 6, 2022 |
PLEC | 2 | Oct 6, 2022 |
PLEKHG5 | 1 | Oct 6, 2022 |
PLN | 1 | Oct 6, 2022 |
PLP1 | 1 | Oct 6, 2022 |
PLXND1 | 1 | Oct 6, 2022 |
PMP2 | 1 | Oct 6, 2022 |
PMP22 | 1 | Oct 6, 2022 |
PMS2 | 18 | Oct 6, 2022 |
PNKD | 1 | Oct 6, 2022 |
PNPLA2 | 1 | Oct 6, 2022 |
POC1B | 2 | Oct 6, 2022 |
POC1B-GALNT4 | 1 | Oct 6, 2022 |
POGZ | 3 | Oct 6, 2022 |
POLA1 | 2 | Oct 6, 2022 |
POLD1 | 8 | Oct 6, 2022 |
POLE | 17 | Oct 6, 2022 |
POLG | 13 | Oct 6, 2022 |
POLGARF | 13 | Oct 6, 2022 |
POLR1C | 2 | Oct 6, 2022 |
POLR2A | 1 | Oct 6, 2022 |
POLR2F | 1 | Oct 6, 2022 |
POLR3H | 1 | Oct 6, 2022 |
POMGNT1 | 1 | Oct 6, 2022 |
POMT1 | 5 | Oct 6, 2022 |
POMT2 | 2 | Oct 6, 2022 |
POT1 | 1 | Oct 6, 2022 |
POU3F4 | 1 | Oct 6, 2022 |
PPM1D | 2 | Oct 6, 2022 |
PPP2CA | 1 | Oct 6, 2022 |
PPP2R5D | 1 | Oct 6, 2022 |
PPP3CA | 1 | Oct 6, 2022 |
PRDM16 | 1 | Oct 6, 2022 |
PREPL | 1 | Oct 6, 2022 |
PRKAG2 | 1 | Oct 6, 2022 |
PRKCG | 1 | Oct 6, 2022 |
PRKN | 1 | Oct 6, 2022 |
PROC | 2 | Oct 6, 2022 |
PRODH | 2 | Oct 6, 2022 |
PROKR2 | 2 | Oct 6, 2022 |
PROM1 | 2 | Oct 6, 2022 |
PROS1 | 1 | Oct 6, 2022 |
PRPH2 | 5 | Oct 6, 2022 |
PRRT2 | 7 | Oct 6, 2022 |
PRX | 1 | Oct 6, 2022 |
PSEN1 | 4 | Oct 6, 2022 |
PSTPIP1 | 1 | Oct 6, 2022 |
PTCH1 | 7 | Oct 6, 2022 |
PTEN | 10 | Oct 6, 2022 |
PTH1R | 1 | Oct 6, 2022 |
PTPN11 | 11 | Jul 17, 2023 |
PUF60 | 1 | Oct 6, 2022 |
PUM1 | 1 | Oct 6, 2022 |
PURA | 4 | Oct 6, 2022 |
PYGM | 3 | Oct 6, 2022 |
QRICH1 | 1 | Oct 6, 2022 |
RAB3GAP1 | 1 | Oct 6, 2022 |
RAB9B | 1 | Oct 6, 2022 |
RAD51C | 6 | Oct 6, 2022 |
RAD51D | 14 | Oct 6, 2022 |
RAD51L3-RFFL | 14 | Oct 6, 2022 |
RAG1 | 1 | Oct 6, 2022 |
RAI1 | 1 | Oct 6, 2022 |
RALGAPA1 | 1 | Oct 6, 2022 |
RAPSN | 1 | Oct 6, 2022 |
RARS2 | 1 | Oct 6, 2022 |
RDH12 | 3 | Oct 6, 2022 |
REEP1 | 2 | Oct 6, 2022 |
RERE | 2 | Oct 6, 2022 |
RET | 10 | Oct 6, 2022 |
RHO | 1 | Oct 6, 2022 |
RHOBTB2 | 1 | Oct 6, 2022 |
RIF1 | 2 | Oct 6, 2022 |
RIT1 | 2 | Oct 6, 2022 |
RLIM | 2 | Oct 6, 2022 |
RNASEH2B | 2 | Oct 6, 2022 |
RORA | 2 | Oct 6, 2022 |
RORA-AS1 | 2 | Oct 6, 2022 |
RORB | 1 | Oct 6, 2022 |
RP1 | 3 | Oct 6, 2022 |
RP1L1 | 2 | Oct 6, 2022 |
RPE65 | 3 | Oct 6, 2022 |
RPGR | 4 | Oct 6, 2022 |
RPGRIP1 | 1 | Oct 6, 2022 |
RPL15 | 1 | Oct 6, 2022 |
RPL36A-HNRNPH2 | 3 | Oct 6, 2022 |
RRM2B | 1 | Oct 6, 2022 |
RS1 | 1 | Oct 6, 2022 |
RUNX1 | 1 | Oct 6, 2022 |
RYR1 | 34 | Oct 6, 2022 |
RYR2 | 10 | Oct 6, 2022 |
SACS | 6 | Oct 6, 2022 |
SATB2 | 1 | Oct 6, 2022 |
SCAMP4 | 3 | Oct 6, 2022 |
SCN10A | 7 | Oct 6, 2022 |
SCN11A | 1 | Oct 6, 2022 |
SCN1A | 21 | Oct 6, 2022 |
SCN1A-AS1 | 1 | Oct 6, 2022 |
SCN2A | 11 | Oct 6, 2022 |
SCN4A | 20 | Oct 6, 2022 |
SCN5A | 6 | Oct 6, 2022 |
SCN8A | 2 | Oct 6, 2022 |
SCN9A | 1 | Oct 6, 2022 |
SCO2 | 3 | Oct 6, 2022 |
SDHA | 2 | Oct 6, 2022 |
SDHB | 7 | Oct 6, 2022 |
SDHC | 1 | Oct 6, 2022 |
SDHD | 6 | Oct 6, 2022 |
SEC23B | 3 | Oct 6, 2022 |
SELENON | 4 | Oct 6, 2022 |
SEMA6B | 2 | Oct 6, 2022 |
SERPINA1 | 2 | Oct 6, 2022 |
SERPINC1 | 1 | Oct 6, 2022 |
SERPINF1 | 1 | Oct 6, 2022 |
SETD1A | 1 | Oct 6, 2022 |
SETD1B | 3 | Oct 6, 2022 |
SETD2 | 3 | Oct 6, 2022 |
SETD5 | 5 | Oct 6, 2022 |
SETX | 8 | Oct 6, 2022 |
SGCB | 1 | Oct 6, 2022 |
SGCE | 4 | Oct 6, 2022 |
SGCG | 2 | Oct 6, 2022 |
SGSH | 1 | Oct 6, 2022 |
SH3TC2 | 4 | Oct 6, 2022 |
SHANK3 | 12 | Oct 6, 2022 |
SHH | 1 | Oct 6, 2022 |
SHOC2 | 1 | Oct 6, 2022 |
SHOX | 1 | Oct 6, 2022 |
SHROOM4 | 1 | Oct 6, 2022 |
SIL1 | 1 | Oct 6, 2022 |
SIN3A | 3 | Oct 6, 2022 |
SIX1 | 1 | Oct 6, 2022 |
SKI | 4 | Oct 6, 2022 |
SLC12A2 | 1 | Oct 6, 2022 |
SLC12A3 | 12 | Oct 6, 2022 |
SLC12A5 | 1 | Oct 6, 2022 |
SLC16A2 | 2 | Oct 6, 2022 |
SLC19A1 | 1 | Oct 6, 2022 |
SLC1A3 | 1 | Oct 6, 2022 |
SLC20A2 | 1 | Oct 6, 2022 |
SLC25A1 | 1 | Oct 6, 2022 |
SLC25A32 | 1 | Oct 6, 2022 |
SLC26A11 | 1 | Oct 6, 2022 |
SLC26A4 | 3 | Oct 6, 2022 |
SLC26A4-AS1 | 1 | Oct 6, 2022 |
SLC26A8 | 1 | Oct 6, 2022 |
SLC2A1 | 9 | Oct 6, 2022 |
SLC2A1-DT | 1 | Oct 6, 2022 |
SLC34A3 | 3 | Oct 6, 2022 |
SLC38A8 | 1 | Oct 6, 2022 |
SLC3A1 | 3 | Oct 6, 2022 |
SLC52A3 | 3 | Oct 6, 2022 |
SLC6A1 | 3 | Oct 6, 2022 |
SLC6A1-AS1 | 3 | Oct 6, 2022 |
SLC6A17 | 2 | Oct 6, 2022 |
SLC6A8 | 1 | Oct 6, 2022 |
SMAD2 | 1 | Oct 6, 2022 |
SMAD3 | 3 | Oct 6, 2022 |
SMAD4 | 4 | Oct 6, 2022 |
SMAD9 | 1 | Oct 6, 2022 |
SMARCA4 | 1 | Oct 6, 2022 |
SMARCB1 | 2 | Oct 6, 2022 |
SMARCD1 | 1 | Oct 6, 2022 |
SMC1A | 1 | Oct 6, 2022 |
SMCHD1 | 5 | Oct 6, 2022 |
SMN1 | 2 | Oct 6, 2022 |
SMPD1 | 2 | Oct 6, 2022 |
SNHG14 | 2 | Oct 6, 2022 |
SNRNP200 | 1 | Oct 6, 2022 |
SOD1 | 6 | Oct 6, 2022 |
SOD1-DT | 1 | Oct 6, 2022 |
SON | 1 | Oct 6, 2022 |
SORD | 6 | Oct 6, 2022 |
SOS2 | 1 | Oct 6, 2022 |
SOX10 | 1 | Oct 6, 2022 |
SOX2 | 2 | Oct 6, 2022 |
SOX2-OT | 2 | Oct 6, 2022 |
SOX5 | 2 | Oct 6, 2022 |
SOX9 | 1 | Oct 6, 2022 |
SPAST | 13 | Oct 6, 2022 |
SPEN | 2 | Oct 6, 2022 |
SPG11 | 2 | Oct 6, 2022 |
SPG7 | 13 | Jul 17, 2023 |
SPINK1 | 1 | Oct 6, 2022 |
SPOP | 1 | Oct 6, 2022 |
SPRED1 | 3 | Oct 6, 2022 |
SPTA1 | 1 | Oct 6, 2022 |
SPTAN1 | 1 | Oct 6, 2022 |
SPTB | 2 | Oct 6, 2022 |
SPTBN1 | 1 | Oct 6, 2022 |
SPTBN2 | 5 | Oct 6, 2022 |
SPTBN4 | 2 | Oct 6, 2022 |
SPTLC2 | 4 | Oct 6, 2022 |
SQSTM1 | 1 | Oct 6, 2022 |
SRD5A2 | 1 | Oct 6, 2022 |
SSUH2 | 1 | Oct 6, 2022 |
STAG1 | 2 | Oct 6, 2022 |
STAG3 | 1 | Oct 6, 2022 |
STAMBP | 1 | Oct 6, 2022 |
STK11 | 15 | Oct 6, 2022 |
STX1B | 1 | Oct 6, 2022 |
STXBP1 | 4 | Oct 6, 2022 |
STXBP2 | 1 | Oct 6, 2022 |
SUFU | 1 | Oct 6, 2022 |
SUOX | 1 | Oct 6, 2022 |
SURF1 | 2 | Oct 6, 2022 |
SYN2 | 1 | Oct 6, 2022 |
SYNE1 | 1 | Oct 6, 2022 |
SYNE2 | 1 | Oct 6, 2022 |
SYNGAP1 | 3 | Oct 6, 2022 |
SYNGAP1-AS1 | 2 | Oct 6, 2022 |
SYNJ1 | 1 | Oct 6, 2022 |
SYP | 1 | Oct 6, 2022 |
SYT1 | 1 | Oct 6, 2022 |
TANC2 | 4 | Oct 6, 2022 |
TANGO2 | 2 | Oct 6, 2022 |
TAOK1 | 2 | Oct 6, 2022 |
TARDBP | 2 | Oct 6, 2022 |
TBC1D24 | 1 | Oct 6, 2022 |
TBCE | 2 | Oct 6, 2022 |
TBCK | 1 | Oct 6, 2022 |
TBK1 | 3 | Oct 6, 2022 |
TBX1 | 1 | Oct 6, 2022 |
TBX3 | 1 | Oct 6, 2022 |
TBX5 | 1 | Oct 6, 2022 |
TBXAS1 | 1 | Oct 6, 2022 |
TCAP | 1 | Oct 6, 2022 |
TCF4 | 2 | Oct 6, 2022 |
TCTN3 | 1 | Oct 6, 2022 |
TERC | 1 | Oct 6, 2022 |
TERT | 1 | Oct 6, 2022 |
TET3 | 2 | Oct 6, 2022 |
TEX14 | 1 | Oct 6, 2022 |
TEX9 | 2 | Oct 6, 2022 |
TGFB2 | 3 | Oct 6, 2022 |
TGFBI | 1 | Oct 6, 2022 |
TGFBR1 | 4 | Oct 6, 2022 |
TGFBR2 | 2 | Oct 6, 2022 |
TH | 1 | Oct 6, 2022 |
THAP1 | 1 | Oct 6, 2022 |
THOC2 | 1 | Oct 6, 2022 |
THRA | 1 | Oct 6, 2022 |
TIMMDC1 | 2 | Oct 6, 2022 |
TK2 | 1 | Oct 6, 2022 |
TLK2 | 1 | Oct 6, 2022 |
TMEM127 | 2 | Oct 6, 2022 |
TMLHE | 1 | Oct 6, 2022 |
TMPRSS3 | 1 | Oct 6, 2022 |
TMPRSS6 | 2 | Oct 6, 2022 |
TNFRSF1A | 3 | Oct 6, 2022 |
TNNI2 | 1 | Oct 6, 2022 |
TNNI3 | 2 | Oct 6, 2022 |
TNNT3 | 1 | Oct 6, 2022 |
TNPO2 | 1 | Oct 6, 2022 |
TNRC6B | 1 | Oct 6, 2022 |
TNXB | 13 | Oct 6, 2022 |
TOMT | 1 | Oct 6, 2022 |
TOPORS | 1 | Oct 6, 2022 |
TOR1A | 1 | Oct 6, 2022 |
TP53 | 11 | Oct 6, 2022 |
TP63 | 3 | Oct 6, 2022 |
TP73 | 1 | Oct 6, 2022 |
TPM1 | 1 | Oct 6, 2022 |
TPM2 | 1 | Oct 6, 2022 |
TPM3 | 2 | Oct 6, 2022 |
TPP1 | 1 | Oct 6, 2022 |
TRAPPC11 | 1 | Oct 6, 2022 |
TRAPPC9 | 1 | Oct 6, 2022 |
TRIM71 | 1 | Oct 6, 2022 |
TRIO | 3 | Oct 6, 2022 |
TRIP12 | 4 | Oct 6, 2022 |
TRMT10A | 2 | Oct 6, 2022 |
TRMU | 1 | Oct 6, 2022 |
TRPA1 | 1 | Oct 6, 2022 |
TRPM3 | 1 | Oct 6, 2022 |
TRPM6 | 1 | Oct 6, 2022 |
TRPV4 | 1 | Oct 6, 2022 |
TRRAP | 4 | Oct 6, 2022 |
TSC1 | 10 | Oct 6, 2022 |
TSC2 | 11 | Oct 6, 2022 |
TSEN54 | 2 | Oct 6, 2022 |
TSFM | 1 | Oct 6, 2022 |
TSPAN1 | 1 | Oct 6, 2022 |
TSPEAR | 2 | Oct 6, 2022 |
TSR2 | 2 | Oct 6, 2022 |
TTBK2 | 1 | Oct 6, 2022 |
TTC36-AS1 | 1 | Oct 6, 2022 |
TTN | 9 | Oct 6, 2022 |
TTN-AS1 | 7 | Oct 6, 2022 |
TTR | 3 | Oct 6, 2022 |
TUBA1A | 5 | Oct 6, 2022 |
TUBB | 2 | Oct 6, 2022 |
TUBB1 | 2 | Oct 6, 2022 |
TUBB2B | 2 | Oct 6, 2022 |
TUBB4A | 1 | Oct 6, 2022 |
TUBGCP6 | 1 | Oct 6, 2022 |
TUFM | 1 | Oct 6, 2022 |
TULP1 | 1 | Oct 6, 2022 |
TWNK | 1 | Oct 6, 2022 |
TYMP | 3 | Oct 6, 2022 |
TYR | 13 | Oct 6, 2022 |
UBA1 | 3 | Oct 6, 2022 |
UBE3A | 2 | Oct 6, 2022 |
UBR1 | 1 | Oct 6, 2022 |
UBTF | 1 | Oct 6, 2022 |
UGT1A | 4 | Oct 6, 2022 |
UGT1A1 | 4 | Oct 6, 2022 |
UGT1A10 | 4 | Oct 6, 2022 |
UGT1A3 | 4 | Oct 6, 2022 |
UGT1A4 | 4 | Oct 6, 2022 |
UGT1A5 | 4 | Oct 6, 2022 |
UGT1A6 | 4 | Oct 6, 2022 |
UGT1A7 | 4 | Oct 6, 2022 |
UGT1A8 | 4 | Oct 6, 2022 |
UGT1A9 | 4 | Oct 6, 2022 |
UMOD | 3 | Oct 6, 2022 |
UNC13A | 1 | Oct 6, 2022 |
USH2A | 7 | Oct 6, 2022 |
USH2A-AS1 | 1 | Oct 6, 2022 |
USP7 | 1 | Oct 6, 2022 |
USP9X | 1 | Oct 6, 2022 |
VARS1 | 1 | Oct 6, 2022 |
VARS2 | 3 | Oct 6, 2022 |
VHL | 2 | Oct 6, 2022 |
VMA21 | 1 | Oct 6, 2022 |
VPS13A | 1 | Oct 6, 2022 |
VPS4A | 1 | Oct 6, 2022 |
WAC | 2 | Oct 6, 2022 |
WARS1 | 1 | Oct 6, 2022 |
WARS2 | 3 | Oct 6, 2022 |
WARS2-AS1 | 1 | Oct 6, 2022 |
WAS | 1 | Oct 6, 2022 |
WASF1 | 1 | Oct 6, 2022 |
WDFY3 | 2 | Oct 6, 2022 |
WDFY3-AS1 | 1 | Oct 6, 2022 |
WDR19 | 1 | Oct 6, 2022 |
WDR37 | 1 | Oct 6, 2022 |
WDR45 | 2 | Oct 6, 2022 |
WDR62 | 1 | Oct 6, 2022 |
WDR73 | 2 | Oct 6, 2022 |
WFS1 | 9 | Oct 6, 2022 |
WNT10A | 6 | Oct 6, 2022 |
WT1 | 1 | Oct 6, 2022 |
XPA | 1 | Oct 6, 2022 |
YWHAG | 1 | Oct 6, 2022 |
ZBTB18 | 1 | Oct 6, 2022 |
ZBTB20 | 1 | Oct 6, 2022 |
ZC4H2 | 1 | Oct 6, 2022 |
ZEB2 | 1 | Oct 6, 2022 |
ZFYVE27 | 1 | Oct 6, 2022 |
ZMIZ1 | 1 | Oct 6, 2022 |
ZMPSTE24 | 1 | Oct 6, 2022 |
ZMYM2 | 2 | Oct 6, 2022 |
ZMYND11 | 2 | Oct 6, 2022 |
ZNF292 | 1 | Oct 6, 2022 |
ZNF454 | 1 | Oct 6, 2022 |
ZNF462 | 2 | Oct 6, 2022 |
ZNF469 | 2 | Oct 6, 2022 |
ZP1 | 1 | Oct 6, 2022 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
3-Methylglutaconic aciduria type 2 | 2 tests |
4p partial monosomy syndrome | 1 test |
5p partial monosomy syndrome | 1 test |
7q11.23 microduplication syndrome | 1 test |
ALG2-congenital disorder of glycosylation | 1 test |
ALG3-congenital disorder of glycosylation | 1 test |
ALG6-congenital disorder of glycosylation 1C | 1 test |
Absence seizure | 1 test |
Accelerated tumor formation, susceptibility to | 1 test |
Achondroplasia | 2 tests |
Actin accumulation myopathy | 1 test |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 test |
Acute lymphoid leukemia | 1 test |
Acyl-CoA dehydrogenase 9 deficiency | 1 test |
Age related macular degeneration 1 | 1 test |
Age related macular degeneration 7 | 1 test |
Agenesis of the corpus callosum with peripheral neuropathy | 1 test |
Aicardi Goutieres syndrome | 1 test |
Aicardi-Goutieres syndrome 1 | 2 tests |
Alagille syndrome due to a JAG1 point mutation | 1 test |
Alexander disease | 2 tests |
Alpha thalassemia-X-linked intellectual disability syndrome | 1 test |
Alpha trait thalassemia | 1 test |
Alpha-1-antitrypsin deficiency | 1 test |
Alternating hemiplegia of childhood 1 | 1 test |
Alternating hemiplegia of childhood 2 | 1 test |
Alzheimer disease 3 | 1 test |
Alzheimer disease 4 | 2 tests |
Alzheimer disease type 1 | 1 test |
Aminoglycoside-induced deafness | 1 test |
Amyloidosis, hereditary systemic 1 | 1 test |
Amyotrophic lateral sclerosis | 7 tests |
Amyotrophic lateral sclerosis type 1 | 2 tests |
Amyotrophic lateral sclerosis type 10 | 1 test |
Amyotrophic lateral sclerosis type 11 | 1 test |
Amyotrophic lateral sclerosis type 15 | 2 tests |
Amyotrophic lateral sclerosis type 4 | 1 test |
Amyotrophic lateral sclerosis type 6 | 1 test |
Amyotrophic lateral sclerosis type 8 | 1 test |
Amyotrophic lateral sclerosis type 9 | 1 test |
Amyotrophic neuralgia | 1 test |
Aneurysm-osteoarthritis syndrome | 1 test |
Angelman syndrome | 2 tests |
Aniridia 1 | 2 tests |
Anophthalmia-microphthalmia syndrome | 3 tests |
Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 test |
Anterior segment dysgenesis 3 | 1 test |
Aortic aneurysm, familial thoracic 4 | 1 test |
Aortic aneurysm, familial thoracic 6 | 2 tests |
Arrhythmogenic right ventricular cardiomyopathy | 2 tests |
Arthrogryposis, distal, type 1A | 2 tests |
Ataxia with myoclonic epilepsy and presenile dementia | 1 test |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
Ataxia-telangiectasia syndrome | 1 test |
Autosomal dominant Opitz G/BBB syndrome | 1 test |
Autosomal dominant centronuclear myopathy | 18 tests |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 test |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 test |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 test |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 4 tests |
Autosomal dominant hypocalcemia 1 | 1 test |
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 test |
Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 test |
Autosomal dominant nonsyndromic hearing loss 4A | 1 test |
Autosomal dominant nonsyndromic hearing loss 6 | 2 tests |
Autosomal dominant optic atrophy classic form | 2 tests |
Autosomal dominant polycystic kidney disease | 1 test |
Autosomal dominant slowed nerve conduction velocity | 1 test |
Autosomal recessive DOPA responsive dystonia | 1 test |
Autosomal recessive axonal neuropathy with neuromyotonia | 1 test |
Autosomal recessive infantile epilepsy | 1 test |
Autosomal recessive limb-girdle muscular dystrophy | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | 1 test |
Autosomal recessive optic atrophy, OPA7 type | 1 test |
Autosomal recessive polycystic kidney disease | 1 test |
Autosomal recessive spinocerebellar ataxia 10 | 1 test |
Axenfeld-Rieger syndrome | 2 tests |
Azorean disease | 1 test |
BAP1-related tumor predisposition syndrome | 1 test |
Bardet-Biedl syndrome | 1 test |
Batten-Turner congenital myopathy | 1 test |
Becker muscular dystrophy | 16 tests |
Beckwith-Wiedemann syndrome | 1 test |
Behavior disorder | 6 tests |
Benign Rolandic epilepsy | 1 test |
Benign neonatal seizures | 2 tests |
Beta thalassemia intermedia | 1 test |
Beta-thalassemia major | 1 test |
Bethlem myopathy 2 | 1 test |
Bilateral frontoparietal polymicrogyria | 1 test |
Biotin-responsive basal ganglia disease | 1 test |
Birt-Hogg-Dube syndrome | 1 test |
Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 test |
Brain small vessel disease 1 with or without ocular anomalies | 5 tests |
Breast and colorectal cancer, susceptibility to | 1 test |
Breast and/or ovarian cancer | 1 test |
Breast cancer 3 | 1 test |
Breast cancer, susceptibility to | 1 test |
Breast neoplasm | 3 tests |
Breast-ovarian cancer, familial, susceptibility to, 1 | 9 tests |
Breast-ovarian cancer, familial, susceptibility to, 2 | 9 tests |
Breast-ovarian cancer, familial, susceptibility to, 3 | 1 test |
Breast-ovarian cancer, familial, susceptibility to, 4 | 1 test |
Bronchiectasis with or without elevated sweat chloride 1 | 2 tests |
Brown-Vialetto-van Laere syndrome 1 | 1 test |
Brown-Vialetto-van Laere syndrome 2 | 1 test |
Brugada syndrome 5 | 2 tests |
CARASIL syndrome | 1 test |
CHRNA1-Related Congenital Myasthenic Syndrome | 1 test |
Carcinoma of colon | 2 tests |
Carcinoma of pancreas | 1 test |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 1 test |
Cardiomyopathy | 3 tests |
Cardiomyopathy, mitochondrial | 1 test |
Cardiomyopathy-hypotonia-lactic acidosis syndrome | 1 test |
Carney complex | 1 test |
Carnitine acylcarnitine translocase deficiency | 1 test |
Carnitine palmitoyl transferase II deficiency, myopathic form | 1 test |
Carnitine palmitoyl transferase II deficiency, neonatal form | 1 test |
Carnitine palmitoyl transferase II deficiency, severe infantile form | 2 tests |
Cataract 1 multiple types | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 1 | 1 test |
Caveolinopathy | 16 tests |
Central core myopathy | 2 tests |
Centronuclear myopathy | 1 test |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 test |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 test |
Cerebral creatine deficiency syndrome | 1 test |
Cerebral folate transport deficiency | 1 test |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 test |
Charcot-Marie-Tooth Neuropathy Type 2H/2K | 1 test |
Charcot-Marie-Tooth disease X-linked dominant 1 | 1 test |
Charcot-Marie-Tooth disease X-linked recessive 5 | 1 test |
Charcot-Marie-Tooth disease axonal type 2C | 1 test |
Charcot-Marie-Tooth disease axonal type 2F | 1 test |
Charcot-Marie-Tooth disease axonal type 2L | 1 test |
Charcot-Marie-Tooth disease axonal type 2N | 1 test |
Charcot-Marie-Tooth disease axonal type 2O | 1 test |
Charcot-Marie-Tooth disease axonal type 2P | 1 test |
Charcot-Marie-Tooth disease dominant intermediate B | 1 test |
Charcot-Marie-Tooth disease dominant intermediate C | 1 test |
Charcot-Marie-Tooth disease dominant intermediate D | 2 tests |
Charcot-Marie-Tooth disease dominant intermediate E | 1 test |
Charcot-Marie-Tooth disease recessive intermediate B | 1 test |
Charcot-Marie-Tooth disease type 1B | 2 tests |
Charcot-Marie-Tooth disease type 1C | 1 test |
Charcot-Marie-Tooth disease type 1D | 2 tests |
Charcot-Marie-Tooth disease type 1E | 2 tests |
Charcot-Marie-Tooth disease type 1F | 1 test |
Charcot-Marie-Tooth disease type 2A2 | 1 test |
Charcot-Marie-Tooth disease type 2B | 1 test |
Charcot-Marie-Tooth disease type 2B1 | 3 tests |
Charcot-Marie-Tooth disease type 2B2 | 1 test |
Charcot-Marie-Tooth disease type 2E | 1 test |
Charcot-Marie-Tooth disease type 4A | 1 test |
Charcot-Marie-Tooth disease type 4B1 | 1 test |
Charcot-Marie-Tooth disease type 4B2 | 1 test |
Charcot-Marie-Tooth disease type 4C | 1 test |
Charcot-Marie-Tooth disease type 4D | 1 test |
Charcot-Marie-Tooth disease type 4E | 3 tests |
Charcot-Marie-Tooth disease type 4F | 1 test |
Charcot-Marie-Tooth disease type 4H | 1 test |
Charcot-Marie-Tooth disease type 4J | 1 test |
Charcot-Marie-Tooth disease, type IA | 2 tests |
Chorea-acanthocytosis | 1 test |
Christianson syndrome | 1 test |
Chromosome 22q11.2 microduplication syndrome | 1 test |
Citrullinemia type I | 1 test |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 test |
Coenzyme Q10 deficiency | 1 test |
Coenzyme Q10 deficiency, primary, 1 | 6 tests |
Coffin-Lowry syndrome | 1 test |
Coffin-Siris syndrome 1 | 1 test |
Collagen 6-related myopathy | 1 test |
Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 1 test |
Colorectal cancer | 1 test |
Colorectal cancer, hereditary nonpolyposis, type 2 | 1 test |
Colorectal cancer, susceptibility to, 10 | 1 test |
Colorectal cancer, susceptibility to, 12 | 1 test |
Combined immunodeficiency due to STIM1 deficiency | 1 test |
Combined oxidative phosphorylation defect type 2 | 1 test |
Combined oxidative phosphorylation defect type 4 | 1 test |
Combined oxidative phosphorylation defect type 7 | 1 test |
Combined oxidative phosphorylation defect type 8 | 1 test |
Complete trisomy 13 syndrome | 1 test |
Congenital aniridia | 1 test |
Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 tests |
Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 test |
Congenital central hypoventilation | 1 test |
Congenital generalized lipodystrophy | 1 test |
Congenital generalized lipodystrophy type 4 | 1 test |
Congenital multicore myopathy with external ophthalmoplegia | 1 test |
Congenital muscular dystrophy | 7 tests |
Congenital muscular dystrophy due to LMNA mutation | 2 tests |
Congenital muscular dystrophy due to partial LAMA2 deficiency | 1 test |
Congenital myasthenic syndrome | 11 tests |
Congenital myasthenic syndrome 10 | 2 tests |
Congenital myasthenic syndrome 12 | 2 tests |
Congenital myasthenic syndrome 13 | 1 test |
Congenital myasthenic syndrome 16 | 1 test |
Congenital myasthenic syndrome 4C | 6 tests |
Congenital myasthenic syndrome 5 | 1 test |
Congenital myopathy 23 | 2 tests |
Congenital myopathy 4B, autosomal recessive | 1 test |
Congenital myopathy with fiber type disproportion | 18 tests |
Congenital myotonia, autosomal dominant form | 4 tests |
Congenital myotonia, autosomal recessive form | 1 test |
Congenital sensory neuropathy with selective loss of small myelinated fibers | 1 test |
Cornelia de Lange syndrome 1 | 1 test |
Cornelia de Lange syndrome 3 | 1 test |
Cornelia de Lange syndrome 4 | 1 test |
Cornelia de Lange syndrome 5 | 1 test |
Corpus callosum agenesis-abnormal genitalia syndrome | 1 test |
Cowden syndrome | 1 test |
Creatine transporter deficiency | 2 tests |
Cutaneous polyarteritis nodosa | 1 test |
Cutis laxa, X-linked | 1 test |
Cutis laxa, autosomal recessive, type 1A | 1 test |
Cystic fibrosis | 3 tests |
DPAGT1-congenital disorder of glycosylation | 1 test |
Danon disease | 1 test |
De Lange syndrome | 1 test |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 1 test |
Deficiency of butyryl-CoA dehydrogenase | 1 test |
Deficiency of guanidinoacetate methyltransferase | 1 test |
Dejerine-Sottas disease | 3 tests |
Dentatorubral-pallidoluysian atrophy | 1 test |
Developmental and epileptic encephalopathy 94 | 1 test |
Developmental and epileptic encephalopathy, 1 | 6 tests |
Developmental and epileptic encephalopathy, 11 | 1 test |
Developmental and epileptic encephalopathy, 14 | 1 test |
Developmental and epileptic encephalopathy, 2 | 1 test |
Developmental and epileptic encephalopathy, 23 | 1 test |
Developmental and epileptic encephalopathy, 24 | 1 test |
Developmental and epileptic encephalopathy, 4 | 15 tests |
Developmental and epileptic encephalopathy, 9 | 14 tests |
Diabetes-deafness syndrome maternally transmitted | 1 test |
Dilated cardiomyopathy 1A | 4 tests |
Dilated cardiomyopathy 1C | 1 test |
Dilated cardiomyopathy 1HH | 1 test |
Dilated cardiomyopathy 1L | 1 test |
Dilated cardiomyopathy 1S | 1 test |
Dilated cardiomyopathy 3B | 2 tests |
Disorder of cardiovascular system | 1 test |
Disorder of fatty acid metabolism | 1 test |
Distal arthrogryposis type 2B1 | 2 tests |
Distal myopathy with anterior tibial onset | 1 test |
Distal myopathy with posterior leg and anterior hand involvement | 1 test |
Down syndrome | 1 test |
Drash syndrome | 1 test |
Duchenne muscular dystrophy | 16 tests |
Dysmorphic features | 6 tests |
Dyssynergia | 1 test |
Dystonia 12 | 1 test |
Dystonia 5 | 2 tests |
Dystonic disorder | 2 tests |
Early myoclonic encephalopathy | 1 test |
Early-onset generalized limb-onset dystonia | 1 test |
Ectopia lentis 1, isolated, autosomal dominant | 3 tests |
Ectopia lentis 2, isolated, autosomal recessive | 3 tests |
Ehlers-Danlos syndrome, classic type | 1 test |
Ehlers-Danlos syndrome, type 4 | 1 test |
Eichsfeld type congenital muscular dystrophy | 3 tests |
Emery-Dreifuss muscular dystrophy | 4 tests |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 3 tests |
Encephalopathy due to GLUT1 deficiency | 10 tests |
Epilepsy, childhood absence 2 | 1 test |
Epilepsy, childhood absence, susceptibility to, 1 | 2 tests |
Epilepsy, childhood absence, susceptibility to, 6 | 1 test |
Epilepsy, familial adult myoclonic, 1 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 13 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 8 | 1 test |
Epilepsy-telangiectasia syndrome | 1 test |
Episodic ataxia type 1 | 1 test |
Episodic ataxia type 2 | 2 tests |
Episodic kinesigenic dyskinesia 1 | 1 test |
Episodic pain syndrome, familial, 2 | 1 test |
Ethylmalonic encephalopathy | 1 test |
Fabry disease | 1 test |
Facioscapulohumeral muscular dystrophy | 1 test |
Facioscapulohumeral muscular dystrophy 2 | 2 tests |
Familial acute necrotizing encephalopathy | 1 test |
Familial adenomatous polyposis 1 | 1 test |
Familial adenomatous polyposis 2 | 1 test |
Familial cancer of breast | 6 tests |
Familial colorectal cancer | 4 tests |
Familial episodic pain syndrome with predominantly lower limb involvement | 1 test |
Familial episodic pain syndrome with predominantly upper body involvement | 1 test |
Familial hemiplegic migraine | 1 test |
Familial hyperkalemic periodic paralysis | 1 test |
Familial hypocalciuric hypercalcemia 1 | 1 test |
Familial infantile myasthenia | 1 test |
Familial meningioma | 1 test |
Familial multiple polyposis syndrome | 2 tests |
Familial pancreatic carcinoma | 1 test |
Familial thoracic aortic aneurysm and aortic dissection | 1 test |
Fatal familial insomnia | 1 test |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 test |
Febrile seizures, familial, 1 | 15 tests |
Febrile seizures, familial, 8 | 1 test |
Focal segmental glomerulosclerosis 1 | 3 tests |
Focal segmental glomerulosclerosis 5 | 1 test |
Foveal hypoplasia 1 | 1 test |
Fragile X syndrome | 2 tests |
Fragile X-associated tremor/ataxia syndrome | 1 test |
Friedreich ataxia 2 | 1 test |
Frontotemporal dementia | 1 test |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 test |
GARS-Associated Axonal Neuropathy | 1 test |
GLUT1 deficiency syndrome | 3 tests |
GNE myopathy | 1 test |
Gastrointestinal stromal tumor | 2 tests |
Generalized epilepsy | 1 test |
Generalized epilepsy with febrile seizures plus, type 1 | 1 test |
Generalized epilepsy with febrile seizures plus, type 2 | 15 tests |
Generalized epilepsy with febrile seizures plus, type 7 | 1 test |
Generalized epilepsy with febrile seizures plus, type 9 | 1 test |
Generalized juvenile polyposis/juvenile polyposis coli | 2 tests |
Gerstmann-Straussler-Scheinker syndrome | 1 test |
Giant axonal neuropathy 1 | 1 test |
Gilbert syndrome | 1 test |
Glaucoma 3, primary congenital, D | 1 test |
Glaucoma 3, primary infantile, B | 1 test |
Glaucoma 3A | 3 tests |
Global developmental delay | 6 tests |
Glycogen storage disease, type II | 1 test |
Glycogen storage disease, type V | 1 test |
Gorlin syndrome | 1 test |
Hb SS disease | 1 test |
Hearing loss, sensorineural, autosomal-mitochondrial type | 1 test |
Hemochromatosis type 1 | 1 test |
Hemoglobin Bart hydrops syndrome | 1 test |
Hemoglobin H disease | 1 test |
Hemoglobin H disease, nondeletional | 1 test |
Hemoglobinopathy | 2 tests |
Hemorrhage, intracerebral, susceptibility to | 1 test |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 1 test |
Hereditary breast ovarian cancer syndrome | 2 tests |
Hereditary cancer-predisposing syndrome | 8 tests |
Hereditary diffuse gastric adenocarcinoma | 5 tests |
Hereditary diffuse leukoencephalopathy with spheroids | 1 test |
Hereditary disease | 1 test |
Hereditary episodic ataxia | 1 test |
Hereditary insensitivity to pain with anhidrosis | 1 test |
Hereditary leiomyomatosis and renal cell cancer | 1 test |
Hereditary liability to pressure palsies | 2 tests |
Hereditary motor and sensory neuropathy with optic atrophy | 1 test |
Hereditary myopathy with lactic acidosis due to ISCU deficiency | 1 test |
Hereditary pancreatitis | 6 tests |
Hereditary sensory and autonomic neuropathy type 1 | 1 test |
Hereditary sensory and autonomic neuropathy type 2 | 1 test |
Hereditary sensory and autonomic neuropathy type 7 | 1 test |
Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 test |
Hereditary sensory neuropathy-deafness-dementia syndrome | 1 test |
Hereditary spastic paraplegia | 2 tests |
Hereditary spastic paraplegia 11 | 1 test |
Hereditary spastic paraplegia 17 | 2 tests |
Hereditary spastic paraplegia 30 | 1 test |
Hereditary spastic paraplegia 3A | 1 test |
Hereditary spastic paraplegia 4 | 1 test |
Hereditary spastic paraplegia 53 | 1 test |
Hereditary spastic paraplegia 55 | 1 test |
Hereditary spastic paraplegia 5A | 1 test |
Hereditary spastic paraplegia 7 | 1 test |
Holoprosencephaly 1 | 2 tests |
Holoprosencephaly 2 | 2 tests |
Huntington disease | 1 test |
Huntington disease-like 1 | 1 test |
Hutchinson-Gilford syndrome | 1 test |
Hypercholesterolemia, autosomal dominant, type B | 1 test |
Hyperekplexia | 1 test |
Hyperekplexia 1 | 1 test |
Hyperinsulinemic hypoglycemia, familial, 4 | 1 test |
Hypertrophic cardiomyopathy 1 | 3 tests |
Hypertrophic cardiomyopathy 10 | 1 test |
Hypertrophic cardiomyopathy 25 | 1 test |
Hypochondroplasia | 1 test |
Hypokalemic periodic paralysis, type 1 | 1 test |
Hypokalemic periodic paralysis, type 2 | 1 test |
Hypomyelination and Congenital Cataract | 1 test |
IMAGe syndrome | 1 test |
Idiopathic generalized epilepsy | 18 tests |
Inborn mitochondrial myopathy | 12 tests |
Infantile convulsions and choreoathetosis | 1 test |
Infantile liver failure syndrome 2 | 1 test |
Infantile onset spinocerebellar ataxia | 1 test |
Infantile seizures | 1 test |
Infantile-onset X-linked spinal muscular atrophy | 1 test |
Inherited Creutzfeldt-Jakob disease | 1 test |
Intellectual disability | 6 tests |
Intellectual disability, X-linked 1 | 1 test |
Intellectual disability, X-linked, with or without seizures, arx-related | 2 tests |
Intellectual disability, autosomal dominant 13 | 1 test |
Intellectual disability, autosomal dominant 16 | 1 test |
Intellectual disability, autosomal dominant 20 | 1 test |
Intellectual disability, autosomal dominant 9 | 1 test |
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2 tests |
Irido-corneo-trabecular dysgenesis | 3 tests |
Isolated microphthalmia 3 | 1 test |
Isolated microphthalmia 4 | 1 test |
Juvenile myoclonic epilepsy | 4 tests |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 test |
KCNQ2-related disorder | 1 test |
Kabuki syndrome 1 | 1 test |
Kabuki syndrome 2 | 1 test |
Kearns-Sayre syndrome | 2 tests |
Kennedy disease | 1 test |
Keratoconus 1 | 2 tests |
Klippel-Feil syndrome 1, autosomal dominant | 1 test |
Knobloch syndrome | 1 test |
Kuru, susceptibility to | 1 test |
LAMP2-Related Cardiomyopathy | 1 test |
LZTR1-related schwannomatosis | 1 test |
Lafora disease | 2 tests |
Landau-Kleffner syndrome | 1 test |
Learning difficulties | 6 tests |
Leber congenital amaurosis 17 | 1 test |
Leber optic atrophy | 1 test |
Legius syndrome | 1 test |
Leigh Syndrome (nuclear DNA mutation) | 1 test |
Leigh syndrome | 15 tests |
Lethal infantile mitochondrial myopathy | 5 tests |
Leukemia, acute lymphoblastic, susceptibility to, 3 | 1 test |
Leukocyte adhesion deficiency type II | 1 test |
Leukodystrophy | 1 test |
Leukoencephalopathy | 1 test |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 test |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 1 test |
Li-Fraumeni syndrome | 9 tests |
Li-Fraumeni syndrome 2 | 8 tests |
Limb-girdle muscular dystrophy | 7 tests |
Lissencephaly due to LIS1 mutation | 3 tests |
Lissencephaly type 1 due to doublecortin gene mutation | 2 tests |
Loeys-Dietz syndrome 4 | 1 test |
Long QT syndrome 1 | 2 tests |
Long QT syndrome 2 | 1 test |
Long QT syndrome 3 | 1 test |
Lynch syndrome | 11 tests |
Lynch syndrome 1 | 1 test |
MEGF10-related myopathy | 1 test |
MELAS syndrome | 3 tests |
MERRF syndrome | 1 test |
MERRF/MELAS overlap syndrome | 1 test |
MPI-congenital disorder of glycosylation | 1 test |
MTHFR THERMOLABILE POLYMORPHISM | 1 test |
MYH7-related skeletal myopathy | 1 test |
Malan overgrowth syndrome | 1 test |
Malignant hyperthermia of anesthesia | 1 test |
Malignant hyperthermia, susceptibility to, 1 | 1 test |
Mandibular hypoplasia-deafness-progeroid syndrome | 1 test |
Marfan syndrome | 3 tests |
Marshall-Smith syndrome | 1 test |
Maturity-onset diabetes of the young type 2 | 1 test |
McLeod neuroacanthocytosis syndrome | 1 test |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 tests |
Megaconial type congenital muscular dystrophy | 1 test |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 test |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 test |
Melanoma, cutaneous malignant, susceptibility to, 2 | 1 test |
Menkes kinky-hair syndrome | 1 test |
Merosin deficient congenital muscular dystrophy | 2 tests |
Microcephaly, normal intelligence and immunodeficiency | 1 test |
Microphthalmia, isolated, with coloboma 6 | 1 test |
Microphthalmia, syndromic 1 | 1 test |
Migraine | 14 tests |
Migraine, familial hemiplegic, 1 | 1 test |
Migraine, familial hemiplegic, 2 | 1 test |
Migraine, familial hemiplegic, 3 | 14 tests |
Mismatch repair cancer syndrome 1 | 4 tests |
Mitochondrial DNA Deletion Syndromes | 2 tests |
Mitochondrial DNA depletion syndrome 1 | 3 tests |
Mitochondrial DNA depletion syndrome 11 | 1 test |
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 2 tests |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 test |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 test |
Mitochondrial DNA depletion syndrome 8a | 1 test |
Mitochondrial DNA depletion syndrome 9 | 2 tests |
Mitochondrial DNA depletion syndrome, encephalomyopathic form | 2 tests |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 test |
Mitochondrial DNA depletion syndrome, myopathic form | 1 test |
Mitochondrial DNA-Associated Leigh Syndrome and NARP | 1 test |
Mitochondrial complex I deficiency | 3 tests |
Mitochondrial complex II deficiency, nuclear type 1 | 3 tests |
Mitochondrial complex III deficiency nuclear type 1 | 4 tests |
Mitochondrial complex III deficiency nuclear type 2 | 1 test |
Mitochondrial complex IV deficiency, nuclear type 1 | 3 tests |
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 1 test |
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 test |
Mitochondrial disease | 32 tests |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 test |
Mitochondrial myopathy with diabetes | 1 test |
Mitochondrial non-syndromic sensorineural hearing loss | 4 tests |
Mitochondrial trifunctional protein deficiency | 2 tests |
Miyoshi muscular dystrophy 1 | 1 test |
Miyoshi muscular dystrophy 3 | 1 test |
Motor developmental delay due to 14q32.2 paternally expressed gene defect | 1 test |
Mowat-Wilson syndrome | 1 test |
Moyamoya disease 1 | 1 test |
Moyamoya disease 5 | 1 test |
Muenke syndrome | 1 test |
Multiminicore myopathy | 2 tests |
Multiple acyl-CoA dehydrogenase deficiency | 2 tests |
Multiple congenital anomalies | 6 tests |
Multiple endocrine neoplasia type 2A | 3 tests |
Multiple endocrine neoplasia, type 1 | 4 tests |
Multiple endocrine neoplasia, type 2 | 1 test |
Multisystemic smooth muscle dysfunction syndrome | 1 test |
Muscle AMP deaminase deficiency | 1 test |
Muscular dystrophy, limb-girdle, autosomal dominant | 3 tests |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 test |
Muscular dystrophy-dystroglycanopathy type B5 | 2 tests |
Myasthenic syndrome, congenital, 1B, fast-channel | 2 tests |
Myasthenic syndrome, slow-channel congenital | 2 tests |
Myoclonic dystonia 11 | 1 test |
Myofibrillar myopathy | 6 tests |
Myofibrillar myopathy 2 | 1 test |
Myofibrillar myopathy 3 | 1 test |
Myofibrillar myopathy 4 | 1 test |
Myofibrillar myopathy 5 | 1 test |
Myofibrillar myopathy 6 | 1 test |
Myoglobinuria, acute recurrent, autosomal recessive | 1 test |
Myoglobinuria, recurrent | 1 test |
Myopathy | 18 tests |
Myopathy, centronuclear, 2 | 1 test |
Myopathy, lactic acidosis, and sideroblastic anemia 1 | 2 tests |
Myopathy, lactic acidosis, and sideroblastic anemia 2 | 1 test |
Myopathy, proximal, and ophthalmoplegia | 1 test |
Myopathy, tubular aggregate, 1 | 1 test |
Myosin storage myopathy | 1 test |
Myositis disease | 1 test |
Myotonia fluctuans | 3 tests |
Myotonic dystrophy type 2 | 1 test |
Nemaline myopathy | 8 tests |
Nemaline myopathy 2 | 1 test |
Nemaline myopathy 5 | 1 test |
Nemaline myopathy 6 | 1 test |
Nemaline myopathy 7 | 8 tests |
Nemaline myopathy 8 | 1 test |
Nemaline myopathy 9 | 1 test |
Neonatal severe primary hyperparathyroidism | 1 test |
Neurodegeneration with brain iron accumulation | 1 test |
Neuronal ceroid lipofuscinosis 1 | 1 test |
Neuronopathy, distal hereditary motor, autosomal dominant 1 | 1 test |
Neuronopathy, distal hereditary motor, type 2A | 1 test |
Neuronopathy, distal hereditary motor, type 2B | 1 test |
Neuronopathy, distal hereditary motor, type 2C | 1 test |
Neuronopathy, distal hereditary motor, type 5A | 2 tests |
Neuronopathy, distal hereditary motor, type 7B | 1 test |
Neuropathy, hereditary sensory and autonomic, type 1C | 1 test |
Neuropathy, hereditary sensory and autonomic, type 2A | 1 test |
Neuropathy, hereditary sensory and autonomic, type 2B | 1 test |
Neuropathy, hereditary sensory, type 1D | 1 test |
Neuropathy, hereditary sensory, type 2C | 1 test |
Neutral lipid storage myopathy | 1 test |
Nicolaides-Baraitser syndrome | 1 test |
Non-syndromic X-linked intellectual disability | 1 test |
Nonpapillary renal cell carcinoma | 1 test |
Noonan syndrome | 2 tests |
Noonan syndrome 1 | 1 test |
Noonan syndrome 3 | 1 test |
Noonan syndrome 4 | 1 test |
Nystagmus 1, congenital, X-linked | 1 test |
Ocular albinism, type I | 1 test |
Oculocutaneous albinism type 1B | 1 test |
Oculocutaneous albinism type 4 | 1 test |
Oculopharyngeal muscular dystrophy | 1 test |
Oculopharyngodistal myopathy | 1 test |
Oligodontia-cancer predisposition syndrome | 1 test |
Optic atrophy | 1 test |
Optic atrophy 3 | 1 test |
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 3 tests |
Ovarian cancer | 1 test |
PHGDH deficiency | 1 test |
POLG-related disorder | 17 tests |
PTEN hamartoma tumor syndrome | 2 tests |
Pancreatic cancer, susceptibility to, 1 | 1 test |
Papillary renal cell carcinoma type 1 | 1 test |
Paragangliomas 1 | 1 test |
Paragangliomas 3 | 1 test |
Paragangliomas 4 | 1 test |
Paramyotonia congenita of Von Eulenburg | 1 test |
Paroxysmal extreme pain disorder | 1 test |
Partial deletion of the long arm of chromosome 14 | 1 test |
Partington syndrome | 1 test |
Pearson syndrome | 2 tests |
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 test |
Periventricular heterotopia with microcephaly, autosomal recessive | 1 test |
Perry syndrome | 1 test |
Peters plus syndrome | 1 test |
Peutz-Jeghers syndrome | 4 tests |
Pitt-Hopkins syndrome | 1 test |
Pituitary hormone deficiency, combined, 6 | 1 test |
Polycystic kidney disease 2 | 2 tests |
Polycystic kidney disease, adult type | 2 tests |
Pontocerebellar hypoplasia type 1A | 1 test |
Pontocerebellar hypoplasia type 2 | 1 test |
Pontocerebellar hypoplasia type 2B | 1 test |
Pontocerebellar hypoplasia type 2C | 1 test |
Pontocerebellar hypoplasia type 4 | 1 test |
Porencephaly 2 | 1 test |
Porencephaly-microcephaly-bilateral congenital cataract syndrome | 1 test |
Porphyria | 1 test |
Potassium-aggravated myotonia | 1 test |
Prader-Willi syndrome | 1 test |
Prader-Willi-like syndrome | 1 test |
Premature ovarian failure 1 | 1 test |
Primary ciliary dyskinesia 29 | 1 test |
Primary dilated cardiomyopathy | 6 tests |
Primary erythromelalgia | 1 test |
Primary familial hypertrophic cardiomyopathy | 2 tests |
Progressive external ophthalmoplegia | 3 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 3 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 4 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 2 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 2 tests |
Progressive familial intrahepatic cholestasis type 2 | 1 test |
Pseudohypoaldosteronism type 2C | 1 test |
Pseudohypoaldosteronism, type IB1, autosomal recessive | 1 test |
Pulmonary hypertension, primary, 1 | 1 test |
Pulmonary hypertension, primary, 2 | 1 test |
Pyridoxal phosphate-responsive seizures | 1 test |
Pyridoxine-dependent epilepsy | 1 test |
Pyruvate dehydrogenase E1-alpha deficiency | 1 test |
Pyruvate dehydrogenase E3-binding protein deficiency | 1 test |
Pyruvate dehydrogenase complex deficiency | 2 tests |
Qualitative or quantitative defects of dysferlin | 1 test |
Qualitative or quantitative defects of dystrophin | 1 test |
RASopathy | 1 test |
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 1 test |
Rett syndrome | 11 tests |
Rett syndrome, congenital variant | 15 tests |
Rhabdoid tumor predisposition syndrome 1 | 1 test |
Rhabdoid tumor predisposition syndrome 2 | 1 test |
Rippling muscle disease 2 | 1 test |
Russell-Silver syndrome | 2 tests |
SMARCB1-related schwannomatosis | 1 test |
Sarcotubular myopathy | 1 test |
Schizencephaly | 1 test |
Seizure | 1 test |
Seizures, benign familial infantile, 2 | 1 test |
Seizures, benign familial neonatal, 1 | 1 test |
Seizures, benign familial neonatal, 2 | 2 tests |
Sengers syndrome | 1 test |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 21 tests |
Severe X-linked myotubular myopathy | 1 test |
Severe myoclonic epilepsy in infancy | 15 tests |
Severe neonatal-onset encephalopathy with microcephaly | 8 tests |
Sickle cell-Hemoglobin O Arab disease | 1 test |
Sickle cell-beta-thalassemia | 2 tests |
Sickle cell-hemoglobin C disease | 1 test |
Sickle cell-hemoglobin D disease | 1 test |
Silver-Russell syndrome 1 | 2 tests |
Silver-Russell syndrome due to an imprinting defect of 11p15 | 1 test |
Smith-Magenis syndrome | 1 test |
Sotos syndrome | 2 tests |
Spermatogenic failure, Y-linked, 2 | 1 test |
Spinal muscular atrophy | 2 tests |
Spinal muscular atrophy, type II | 1 test |
Spinocerebellar ataxia 7 | 1 test |
Spinocerebellar ataxia type 1 | 1 test |
Spinocerebellar ataxia type 13 | 1 test |
Spinocerebellar ataxia type 17 | 1 test |
Spinocerebellar ataxia type 18 | 1 test |
Spinocerebellar ataxia type 2 | 1 test |
Spinocerebellar ataxia type 6 | 1 test |
Spinocerebellar ataxia type 8 | 1 test |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 test |
Spongiform encephalopathy with neuropsychiatric features | 1 test |
Steinert myotonic dystrophy syndrome | 1 test |
Stickler syndrome type 1 | 2 tests |
Stickler syndrome type 2 | 1 test |
Stuve-Wiedemann syndrome | 1 test |
Syndromic X-linked intellectual disability Lubs type | 9 tests |
Syndromic intellectual disability | 1 test |
Telangiectasia, hereditary hemorrhagic, type 1 | 1 test |
Telangiectasia, hereditary hemorrhagic, type 2 | 1 test |
Telangiectasia, hereditary hemorrhagic, type 5 | 1 test |
Thalassemia | 2 tests |
Thalassemia intermedia | 1 test |
Thalassemia minor | 1 test |
Thanatophoric dysplasia type 1 | 2 tests |
Thrombophilia due to activated protein C resistance | 1 test |
Thrombophilia due to thrombin defect | 1 test |
Torsion dystonia 6 | 1 test |
Trisomy 18 | 1 test |
Tumor predisposition syndrome 3 | 1 test |
Ullrich congenital muscular dystrophy 2 | 1 test |
Unverricht-Lundborg syndrome | 1 test |
Usher syndrome type 3B | 1 test |
Uveal coloboma-cleft lip and palate-intellectual disability | 1 test |
Vanishing white matter disease | 1 test |
Velocardiofacial syndrome | 1 test |
Very long chain acyl-CoA dehydrogenase deficiency | 1 test |
Visceral myopathy 1 | 1 test |
Von Hippel-Lindau syndrome | 1 test |
Warburg micro syndrome | 1 test |
Weaver syndrome | 2 tests |
Weill-Marchesani 4 syndrome, recessive | 1 test |
Weill-Marchesani syndrome 1 | 1 test |
Weill-Marchesani syndrome 3 | 1 test |
Werdnig-Hoffmann disease | 2 tests |
West syndrome | 14 tests |
Wiedemann-Steiner syndrome | 1 test |
Williams syndrome | 1 test |
Wilms tumor 1 | 1 test |
Wolfram syndrome 1 | 2 tests |
Wolfram syndrome 2 | 1 test |
Wolfram-like syndrome | 1 test |
X inactivation, familial skewed, 1 | 1 test |
X inactivation, familial skewed, 2 | 1 test |
X-linked Emery-Dreifuss muscular dystrophy | 2 tests |
X-linked Opitz G/BBB syndrome | 1 test |
X-linked agammaglobulinemia | 1 test |
X-linked distal spinal muscular atrophy type 3 | 1 test |
X-linked ichthyosis with steryl-sulfatase deficiency | 1 test |
X-linked intellectual disability Cabezas type | 1 test |
X-linked intellectual disability-psychosis-macroorchidism syndrome | 12 tests |
X-linked lissencephaly with abnormal genitalia | 1 test |
X-linked myopathy with postural muscle atrophy | 2 tests |
XK aprosencephaly | 1 test |
Y chromosome-related disorders | 1 test |
alpha Thalassemia | 1 test |
beta Thalassemia | 1 test |