Centogene AG - the Rare Disease Company
General information
Centogene AG - the Rare Disease Company
Am Strande 7
CENTOGENE New Headquarter
Rostock
Mecklenburg-Vorpommern
Germany - 18055
https://www.centogene.com/company/contact.html
Organization ID: 279559
Am Strande 7
CENTOGENE New Headquarter
Rostock
Mecklenburg-Vorpommern
Germany - 18055
https://www.centogene.com/company/contact.html
Organization ID: 279559
Personnel
- Ellen Karges
Phone: (49)0381203652218
Email: ellen.karges@centogene.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1216
Gene
Gene | Submissions | Last Updated |
---|---|---|
AARS1 | 1 | Dec 21, 2021 |
AARS2 | 1 | Dec 21, 2021 |
ABCA1 | 1 | Nov 29, 2021 |
ABCA4 | 4 | Dec 21, 2021 |
ABCA7 | 3 | Dec 21, 2021 |
ABCB11 | 6 | Aug 5, 2020 |
ABCB4 | 3 | Dec 21, 2021 |
ABCB7 | 1 | Dec 21, 2021 |
ABCC6 | 2 | Dec 21, 2021 |
ABCC8 | 1 | Jul 14, 2020 |
ABCC9 | 1 | Jul 14, 2020 |
ABCD1 | 1 | Dec 21, 2021 |
ABCD4 | 1 | Dec 21, 2021 |
ABHD5 | 1 | Jul 14, 2020 |
ACADVL | 1 | Aug 5, 2020 |
ACTA1 | 1 | Dec 21, 2021 |
ACTA2 | 1 | Aug 5, 2020 |
ACTB | 3 | Dec 21, 2021 |
ACTG1 | 3 | Dec 21, 2021 |
ACTG2 | 1 | Dec 21, 2021 |
ADA2 | 2 | Dec 21, 2021 |
ADAT3 | 3 | Dec 21, 2021 |
ADCY5 | 1 | Dec 21, 2021 |
ADD3 | 1 | Dec 21, 2021 |
ADGRV1 | 2 | Dec 21, 2021 |
AFG3L2 | 4 | Dec 21, 2021 |
AGL | 6 | Jul 14, 2020 |
AGPS | 1 | Dec 21, 2021 |
AGXT | 1 | Jul 14, 2020 |
AHDC1 | 2 | Nov 4, 2022 |
ALAS2 | 1 | Dec 21, 2021 |
ALDH18A1 | 1 | Dec 21, 2021 |
ALDOB | 2 | Aug 5, 2020 |
ALPL | 1 | Jul 14, 2020 |
ALS2 | 1 | Jul 14, 2020 |
AMT | 1 | Dec 21, 2021 |
ANK1 | 1 | Jul 14, 2020 |
ANK2 | 1 | Dec 21, 2021 |
ANKH | 1 | Aug 5, 2020 |
ANKRD11 | 5 | Nov 4, 2022 |
ANO3 | 1 | Dec 21, 2021 |
ANTXR2 | 1 | Aug 5, 2020 |
AP5Z1 | 1 | Aug 5, 2020 |
APC | 1 | Aug 5, 2020 |
APOC2 | 1 | Dec 21, 2021 |
APOC4-APOC2 | 1 | Dec 21, 2021 |
APOE | 2 | Nov 4, 2022 |
APP | 1 | Dec 21, 2021 |
APP-DT | 1 | Dec 21, 2021 |
ARFGEF1-DT | 1 | Dec 21, 2021 |
ARG1 | 2 | Dec 21, 2021 |
ARHGEF9 | 1 | Aug 5, 2020 |
ARID1B | 4 | Nov 4, 2022 |
ARID2 | 1 | Dec 21, 2021 |
ARSA | 1 | Aug 5, 2020 |
ARSB | 1 | Aug 5, 2020 |
ARSL | 1 | Aug 5, 2020 |
ARX | 3 | Dec 21, 2021 |
ASCC1 | 2 | Dec 21, 2021 |
ASL | 1 | Jul 14, 2020 |
ASPA | 2 | Jul 14, 2020 |
ASPH | 2 | Dec 21, 2021 |
ASS1 | 1 | Aug 5, 2020 |
ASXL3 | 2 | Dec 21, 2021 |
ATAD3A | 1 | Dec 21, 2021 |
ATL1 | 2 | Dec 21, 2021 |
ATM | 5 | Dec 21, 2021 |
ATP13A2 | 1 | Dec 21, 2021 |
ATP1A2 | 1 | Dec 21, 2021 |
ATP1A3 | 4 | Dec 21, 2021 |
ATP2B3 | 2 | Dec 21, 2021 |
ATP5F1A | 1 | Dec 21, 2021 |
ATP6V0A4 | 2 | Jul 14, 2020 |
ATP7A | 1 | Dec 21, 2021 |
ATP7B | 6 | Dec 21, 2021 |
ATP8B1 | 2 | Jul 14, 2020 |
ATRIP | 2 | Dec 21, 2021 |
ATRIP-TREX1 | 2 | Dec 21, 2021 |
ATRX | 2 | Dec 21, 2021 |
ATXN7L3-AS1 | 1 | Dec 21, 2021 |
BCL11B | 1 | Dec 21, 2021 |
BCOR | 2 | Dec 21, 2021 |
BCORL1 | 2 | Nov 4, 2022 |
BLK | 1 | Dec 21, 2021 |
BLM | 1 | Aug 5, 2020 |
BMPR1A | 1 | Jul 14, 2020 |
BPTF | 1 | Dec 21, 2021 |
BRAT1 | 2 | Nov 4, 2022 |
BRCA1 | 1 | Jul 14, 2020 |
BRCA2 | 1 | Dec 21, 2021 |
BRPF1 | 1 | Dec 21, 2021 |
BRWD3 | 1 | Dec 21, 2021 |
BTD | 4 | Dec 21, 2021 |
BTK | 2 | Jul 14, 2020 |
C11orf65 | 1 | Aug 5, 2020 |
C1QA | 1 | Aug 5, 2020 |
C1R | 1 | Jul 14, 2020 |
C6 | 1 | Aug 5, 2020 |
CA5A | 1 | Jul 14, 2020 |
CACNA1A | 5 | Dec 21, 2021 |
CACNA1C | 2 | Dec 21, 2021 |
CACNA1C-AS1 | 1 | Dec 21, 2021 |
CACNA1D | 2 | Dec 21, 2021 |
CACNA1F | 1 | Dec 21, 2021 |
CACNA1G | 2 | Dec 21, 2021 |
CACNA1H | 2 | Dec 21, 2021 |
CACNA1S | 2 | Dec 21, 2021 |
CAMK2B | 1 | Dec 21, 2021 |
CAMTA1 | 1 | Dec 21, 2021 |
CANT1 | 1 | Aug 5, 2020 |
CAPN1 | 1 | Aug 5, 2020 |
CASD1 | 1 | Dec 21, 2021 |
CASK | 3 | Dec 21, 2021 |
CBS | 1 | Jul 14, 2020 |
CC2D1A | 2 | Dec 21, 2021 |
CCDC88C | 1 | Dec 21, 2021 |
CCDST | 2 | Nov 29, 2021 |
CCM2 | 1 | Aug 5, 2020 |
CCNH | 2 | Dec 21, 2021 |
CD46 | 1 | Dec 21, 2021 |
CDAN1 | 2 | Dec 21, 2021 |
CDC42 | 1 | Jul 14, 2020 |
CDC45 | 1 | Dec 21, 2021 |
CDK13 | 2 | Dec 21, 2021 |
CEP290 | 1 | Dec 21, 2021 |
CFHR5 | 1 | Dec 21, 2021 |
CFTR | 5 | Sep 4, 2024 |
CFTR-AS1 | 2 | Dec 21, 2021 |
CHD3 | 1 | Dec 21, 2021 |
CHD4 | 1 | Dec 21, 2021 |
CHD7 | 1 | Dec 21, 2021 |
CHD8 | 7 | Dec 21, 2021 |
CHEK2 | 1 | Aug 5, 2020 |
CHMP2B | 2 | Dec 21, 2021 |
CHRNA4 | 1 | Dec 21, 2021 |
CHRNB1 | 1 | Dec 21, 2021 |
CHRNB2 | 1 | Dec 21, 2021 |
CHRNE | 1 | Jul 14, 2020 |
CHRNG | 1 | Nov 29, 2021 |
CIC | 2 | Dec 21, 2021 |
CLDN10 | 1 | Aug 5, 2020 |
CLDN16 | 1 | Aug 5, 2020 |
CLN6 | 1 | Jul 14, 2020 |
CLTC | 3 | Dec 21, 2021 |
CNGA3 | 1 | Jul 14, 2020 |
CNGB3 | 1 | Aug 5, 2020 |
CNTN2 | 2 | Dec 21, 2021 |
CNTNAP2 | 2 | Aug 5, 2020 |
COG6 | 1 | Aug 5, 2020 |
COL10A1 | 1 | Dec 21, 2021 |
COL11A2 | 1 | Dec 21, 2021 |
COL12A1 | 4 | Dec 21, 2021 |
COL17A1 | 1 | Jul 14, 2020 |
COL18A1 | 1 | Aug 5, 2020 |
COL1A1 | 3 | Dec 21, 2021 |
COL1A2 | 1 | Dec 21, 2021 |
COL2A1 | 2 | Dec 21, 2021 |
COL4A1 | 4 | Nov 4, 2022 |
COL4A2 | 1 | Dec 21, 2021 |
COL4A3 | 12 | Feb 22, 2022 |
COL4A4 | 8 | Feb 22, 2022 |
COL4A5 | 11 | Feb 22, 2022 |
COL5A1 | 4 | Dec 21, 2021 |
COL6A1 | 1 | Dec 21, 2021 |
COL6A2 | 3 | Dec 19, 2022 |
COL7A1 | 1 | Aug 5, 2020 |
COLQ | 1 | Dec 21, 2021 |
COMP | 2 | Dec 21, 2021 |
COQ4 | 3 | Dec 21, 2021 |
COQ8A | 1 | Dec 21, 2021 |
COQ8B | 1 | Nov 4, 2022 |
CPA6 | 1 | Dec 21, 2021 |
CPOX | 1 | Dec 21, 2021 |
CPT1C | 1 | Dec 21, 2021 |
CPT2 | 1 | Dec 21, 2021 |
CTC1 | 2 | Dec 21, 2021 |
CTCF | 1 | Dec 21, 2021 |
CTNNA3 | 1 | Dec 21, 2021 |
CTNNB1 | 1 | Dec 21, 2021 |
CTNS | 1 | Jul 14, 2020 |
CUL3 | 1 | Aug 5, 2020 |
CUX1 | 1 | Dec 21, 2021 |
CYP1B1 | 1 | Aug 5, 2020 |
CYP21A2 | 1 | Jul 14, 2020 |
CYP24A1 | 1 | Dec 21, 2021 |
CYP27A1 | 1 | Jul 14, 2020 |
CYP2U1 | 1 | Aug 5, 2020 |
CYP2U1-AS1 | 1 | Aug 5, 2020 |
DBT | 1 | Jul 14, 2020 |
DCDC2 | 1 | Jul 14, 2020 |
DCHS1 | 1 | Dec 21, 2021 |
DDC | 1 | Jul 14, 2020 |
DEAF1 | 2 | Dec 21, 2021 |
DEPDC5 | 2 | Dec 21, 2021 |
DISP1 | 2 | Dec 21, 2021 |
DLD | 1 | Jul 14, 2020 |
DLL4 | 1 | Aug 5, 2020 |
DMD | 2 | Aug 5, 2020 |
DNA2 | 2 | Dec 21, 2021 |
DNAH11 | 1 | Aug 5, 2020 |
DNAJB6 | 1 | Dec 21, 2021 |
DNM1 | 1 | Dec 21, 2021 |
DNM2 | 1 | Aug 5, 2020 |
DNMT1 | 1 | Dec 21, 2021 |
DNMT3A | 1 | Aug 5, 2020 |
DPYD | 2 | Nov 29, 2021 |
DSG2 | 1 | Jul 14, 2020 |
DSP | 1 | Dec 21, 2021 |
DST | 2 | Dec 21, 2021 |
DUOX2 | 1 | Nov 29, 2021 |
DUOXA2 | 1 | Aug 5, 2020 |
DVL3 | 1 | Dec 21, 2021 |
DYRK1A | 2 | Nov 4, 2022 |
DYSF | 1 | Aug 5, 2020 |
ECEL1 | 2 | Dec 21, 2021 |
EEF2 | 1 | Dec 21, 2021 |
EHMT1 | 1 | Aug 5, 2020 |
ELOVL4 | 1 | Sep 4, 2024 |
EMD | 1 | Aug 5, 2020 |
ENO3 | 2 | Dec 21, 2021 |
ENPP1 | 1 | Dec 21, 2021 |
EP300 | 6 | Nov 4, 2022 |
EPCAM | 2 | Jul 14, 2020 |
ERBB4 | 2 | Dec 21, 2021 |
ERCC6 | 1 | Aug 5, 2020 |
ERMARD | 1 | Dec 21, 2021 |
ETFDH | 1 | Jul 14, 2020 |
ETHE1 | 2 | Aug 5, 2020 |
EVC2 | 1 | Dec 21, 2021 |
EXT2 | 2 | Dec 21, 2021 |
FA2H | 1 | Jul 14, 2020 |
FAH | 3 | Jul 14, 2020 |
FANCA | 1 | Dec 21, 2021 |
FANCF | 1 | Dec 21, 2021 |
FAT2 | 1 | Dec 21, 2021 |
FBN1 | 2 | Dec 21, 2021 |
FBP1 | 3 | Jul 14, 2020 |
FBXO11 | 2 | Dec 21, 2021 |
FBXO7 | 1 | Dec 21, 2021 |
FCSK | 1 | Dec 21, 2021 |
FGD1 | 1 | Dec 21, 2021 |
FGFR1 | 4 | Dec 21, 2021 |
FGFR3 | 3 | Dec 21, 2021 |
FIG4 | 1 | Dec 21, 2021 |
FLG | 2 | Nov 29, 2021 |
FLNA | 1 | Dec 21, 2021 |
FLNC | 2 | Dec 21, 2021 |
FLNC-AS1 | 1 | Dec 21, 2021 |
FN1 | 2 | Dec 21, 2021 |
FOXG1 | 1 | Aug 5, 2020 |
FOXP1 | 3 | Dec 21, 2021 |
FOXP2 | 1 | Dec 21, 2021 |
FRMPD4 | 1 | Dec 21, 2021 |
FRRS1L | 1 | Aug 5, 2020 |
FTSJ1 | 1 | Dec 21, 2021 |
FUCA1 | 1 | Jul 14, 2020 |
G6PC1 | 2 | Jul 14, 2020 |
G6PD | 6 | Dec 21, 2021 |
GAA | 3 | Dec 21, 2021 |
GABBR2 | 1 | Aug 5, 2020 |
GABRA1 | 3 | Dec 21, 2021 |
GALC | 1 | Aug 5, 2020 |
GALNS | 6 | Dec 21, 2021 |
GALT | 2 | Jul 14, 2020 |
GATAD1 | 1 | Jul 14, 2020 |
GATAD2B | 1 | Dec 21, 2021 |
GBA1 | 8 | Dec 21, 2021 |
GCDH | 1 | Dec 21, 2021 |
GCH1 | 2 | Dec 21, 2021 |
GCK | 1 | Dec 21, 2021 |
GDAP2 | 1 | Dec 21, 2021 |
GDF5 | 1 | Dec 21, 2021 |
GDF5-AS1 | 1 | Dec 21, 2021 |
GJB2 | 1 | Dec 21, 2021 |
GLA | 4 | Dec 21, 2021 |
GLB1 | 3 | Jul 14, 2020 |
GLDN | 1 | Aug 5, 2020 |
GMNN | 1 | Dec 21, 2021 |
GNAO1 | 1 | Dec 21, 2021 |
GNB5 | 1 | Jul 14, 2020 |
GNE | 1 | Dec 21, 2021 |
GNPTAB | 2 | Aug 5, 2020 |
GREB1L | 1 | Dec 21, 2021 |
GRIN1 | 1 | Dec 21, 2021 |
GRIN2A | 2 | Dec 21, 2021 |
GRIN2B | 2 | Dec 21, 2021 |
GRIN2D | 3 | Dec 21, 2021 |
GTPBP2 | 2 | Aug 5, 2020 |
GUCY2D | 1 | Dec 21, 2021 |
HARS1 | 1 | Dec 21, 2021 |
HBA1 | 1 | Dec 21, 2021 |
HBB | 6 | Nov 29, 2021 |
HDAC8 | 2 | Dec 21, 2021 |
HDC | 1 | Dec 21, 2021 |
HERC2 | 2 | Dec 21, 2021 |
HEXA | 3 | Jul 14, 2020 |
HEXB | 3 | Aug 5, 2020 |
HFE | 2 | Nov 29, 2021 |
HFE-AS1 | 1 | Nov 29, 2021 |
HIBCH | 1 | Dec 21, 2021 |
HIVEP2 | 2 | Dec 21, 2021 |
HMBS | 3 | Dec 21, 2021 |
HNF4A | 1 | Dec 21, 2021 |
HNRNPH2 | 1 | Dec 21, 2021 |
HNRNPU | 1 | Dec 21, 2021 |
HRAS | 1 | Dec 21, 2021 |
HS6ST2 | 1 | Dec 21, 2021 |
HUWE1 | 3 | Dec 21, 2021 |
HYLS1 | 1 | Aug 5, 2020 |
IDUA | 1 | Jul 14, 2020 |
IFT140 | 2 | Aug 5, 2020 |
IFT57 | 1 | Aug 5, 2020 |
IGH | 1 | Jul 14, 2020 |
IGHM | 1 | Jul 14, 2020 |
IGHMBP2 | 1 | Dec 21, 2021 |
IL1RAPL1 | 1 | Dec 21, 2021 |
IL21R | 1 | Jul 14, 2020 |
IQSEC2 | 1 | Dec 21, 2021 |
IRAK1BP1 | 1 | Dec 21, 2021 |
IRF2BP2 | 1 | Dec 21, 2021 |
ITM2B | 1 | Dec 21, 2021 |
ITPA | 1 | Jul 14, 2020 |
ITPR1 | 1 | Dec 21, 2021 |
IVD | 1 | Jul 14, 2020 |
JAG1 | 2 | Dec 21, 2021 |
JAM3 | 1 | Aug 5, 2020 |
JMJD8 | 1 | Dec 21, 2021 |
KAT6B | 2 | Dec 21, 2021 |
KCNA5 | 1 | Dec 21, 2021 |
KCNC1 | 1 | Dec 21, 2021 |
KCND3 | 1 | Dec 21, 2021 |
KCNH1 | 1 | Aug 5, 2020 |
KCNN3 | 1 | Dec 21, 2021 |
KCNN4 | 1 | Dec 21, 2021 |
KCNQ2 | 4 | Dec 21, 2021 |
KCNQ3 | 1 | Dec 21, 2021 |
KDM6A | 1 | Dec 21, 2021 |
KIAA0586 | 2 | Dec 21, 2021 |
KIDINS220 | 1 | Dec 21, 2021 |
KIF1A | 4 | Dec 21, 2021 |
KIF1B | 1 | Dec 21, 2021 |
KIF22 | 1 | Aug 5, 2020 |
KIF5A | 2 | Dec 21, 2021 |
KIFBP | 1 | Aug 5, 2020 |
KIT | 1 | Dec 21, 2021 |
KMT2A | 2 | Dec 21, 2021 |
KMT2B | 2 | Dec 21, 2021 |
KMT2C | 1 | Dec 21, 2021 |
KMT2D | 6 | Nov 4, 2022 |
KMT5B | 1 | Dec 21, 2021 |
L1CAM | 1 | Nov 29, 2021 |
L2HGDH | 2 | Dec 21, 2021 |
LAMA2 | 1 | Aug 5, 2020 |
LAMB2 | 1 | Aug 5, 2020 |
LAMB3 | 2 | Dec 21, 2021 |
LARP7 | 1 | Aug 5, 2020 |
LAS1L | 1 | Dec 21, 2021 |
LDB3 | 1 | Dec 21, 2021 |
LDLR | 3 | Dec 21, 2021 |
LGI4 | 2 | Aug 5, 2020 |
LIFR | 1 | Dec 21, 2021 |
LINC00630 | 1 | Dec 21, 2021 |
LIPA | 1 | Dec 21, 2021 |
LMX1B | 1 | Dec 21, 2021 |
LOC100506235 | 1 | Dec 21, 2021 |
LOC102724058 | 2 | Dec 21, 2021 |
LOC106099062 | 5 | Nov 29, 2021 |
LOC106627981 | 8 | Dec 21, 2021 |
LOC106780800 | 1 | Jul 14, 2020 |
LOC106804613 | 1 | Dec 21, 2021 |
LOC107133510 | 6 | Nov 29, 2021 |
LOC109610631 | 1 | Aug 5, 2020 |
LOC110006319 | 2 | Aug 5, 2020 |
LOC110121269 | 1 | Dec 21, 2021 |
LOC110121486 | 1 | Dec 21, 2021 |
LOC111674472 | 1 | Jul 14, 2020 |
LOC114827850 | 1 | Dec 21, 2021 |
LOC126805890 | 1 | Dec 21, 2021 |
LOC126806583 | 1 | Dec 21, 2021 |
LOC126806658 | 1 | Dec 21, 2021 |
LOC126859712 | 2 | Dec 21, 2021 |
LOC126859827 | 1 | Aug 5, 2020 |
LOC126860130 | 1 | Aug 5, 2020 |
LOC126860369 | 1 | Jul 14, 2020 |
LOC126861242 | 1 | Jul 14, 2020 |
LOC126861897 | 1 | Aug 5, 2020 |
LOC126862156 | 1 | Dec 15, 2021 |
LOC126862264 | 1 | Dec 21, 2021 |
LOC126862447 | 1 | Aug 5, 2020 |
LOC126863158 | 1 | Aug 5, 2020 |
LOC128772254 | 1 | Aug 5, 2020 |
LOC129930561 | 1 | Dec 21, 2021 |
LOC129992813 | 1 | Dec 21, 2021 |
LOC129994126 | 1 | Aug 5, 2020 |
LOC129994371 | 1 | Aug 5, 2020 |
LOC129998796 | 1 | Jul 14, 2020 |
LOC130003135 | 1 | Aug 5, 2020 |
LOC130009585 | 1 | Aug 5, 2020 |
LOC130056453 | 1 | Dec 21, 2021 |
LOC130062340 | 1 | Jul 14, 2020 |
LOC130063169 | 1 | Dec 21, 2021 |
LOX | 1 | Aug 5, 2020 |
LPL | 4 | Jul 14, 2020 |
LRBA | 5 | Dec 21, 2021 |
LRP4 | 2 | Dec 21, 2021 |
LRP5 | 1 | Dec 21, 2021 |
LRPPRC | 2 | Nov 4, 2022 |
LRRC56 | 1 | Dec 21, 2021 |
LRRK2 | 1 | Dec 21, 2021 |
LZTR1 | 2 | Dec 21, 2021 |
MAB21L2 | 1 | Aug 5, 2020 |
MACF1 | 1 | Dec 21, 2021 |
MAGEL2 | 1 | Aug 5, 2020 |
MAN2B1 | 2 | Aug 5, 2020 |
MAOA | 1 | Dec 21, 2021 |
MAP1B | 1 | Dec 21, 2021 |
MAPK8IP3 | 1 | Dec 21, 2021 |
MAPT | 1 | Dec 21, 2021 |
MASP1 | 2 | Dec 21, 2021 |
MBD5 | 3 | Dec 21, 2021 |
MCOLN1 | 1 | Aug 5, 2020 |
MECP2 | 5 | Nov 4, 2022 |
MED12 | 3 | Nov 4, 2022 |
MED12L | 1 | Dec 21, 2021 |
MED13 | 1 | Dec 21, 2021 |
MED13L | 4 | Nov 4, 2022 |
MED17 | 3 | Dec 21, 2021 |
MED23 | 2 | Dec 21, 2021 |
MEF2C | 1 | Dec 21, 2021 |
MEFV | 2 | Dec 21, 2021 |
MEIS2 | 1 | Dec 21, 2021 |
METTL23 | 1 | Aug 5, 2020 |
MFF-DT | 12 | Feb 22, 2022 |
MHRT | 1 | Aug 5, 2020 |
MIB1 | 1 | Dec 21, 2021 |
MILR1 | 1 | Dec 21, 2021 |
MIR302CHG | 1 | Aug 5, 2020 |
MLH1 | 1 | Jul 14, 2020 |
MMAA | 1 | Jul 14, 2020 |
MMACHC | 1 | Jul 14, 2020 |
MOGS | 1 | Aug 5, 2020 |
MORC2 | 2 | Dec 21, 2021 |
MPDZ | 1 | Aug 5, 2020 |
MPV17 | 1 | Jul 14, 2020 |
MPZ | 1 | Dec 21, 2021 |
MSH2 | 1 | Dec 21, 2021 |
MSH3 | 1 | Nov 29, 2021 |
MSH6 | 3 | Dec 21, 2021 |
MTHFR | 1 | Nov 29, 2021 |
MTOR | 2 | Dec 21, 2021 |
MVP-DT | 2 | Dec 21, 2021 |
MYBPC3 | 4 | Dec 21, 2021 |
MYH6 | 1 | Dec 21, 2021 |
MYH7 | 2 | Dec 21, 2021 |
MYL2 | 1 | Dec 21, 2021 |
MYO5A | 1 | Dec 21, 2021 |
MYOT | 1 | Dec 21, 2021 |
MYT1L | 1 | Dec 21, 2021 |
NAGA | 1 | Aug 5, 2020 |
NAGLU | 3 | Jul 14, 2020 |
NALCN | 1 | Jul 14, 2020 |
NBAS | 2 | Dec 21, 2021 |
NDUFS4 | 1 | Aug 5, 2020 |
NDUFS6 | 1 | Dec 21, 2021 |
NDUFV1 | 1 | Jul 14, 2020 |
NEB | 1 | Dec 21, 2021 |
NEDD4L | 1 | Dec 21, 2021 |
NEFH | 1 | Dec 21, 2021 |
NEXMIF | 2 | Aug 5, 2020 |
NF1 | 3 | Dec 21, 2021 |
NFIB | 1 | Dec 21, 2021 |
NFIX | 1 | Dec 21, 2021 |
NFKB2 | 2 | Dec 21, 2021 |
NFKBIA | 1 | Dec 21, 2021 |
NIPSNAP3B | 1 | Nov 29, 2021 |
NKX6-2 | 3 | Aug 5, 2020 |
NLRP12 | 1 | Dec 21, 2021 |
NLRP3 | 1 | Dec 21, 2021 |
NOD2 | 1 | Dec 21, 2021 |
NOTCH3 | 1 | Dec 21, 2021 |
NPC1 | 78 | Sep 16, 2022 |
NPHS1 | 1 | Aug 5, 2020 |
NR3C1 | 2 | Dec 21, 2021 |
NRXN1 | 1 | Dec 21, 2021 |
NSD1 | 2 | Dec 21, 2021 |
NSUN2 | 1 | Aug 5, 2020 |
NT5DC1 | 1 | Dec 21, 2021 |
NUS1 | 1 | Dec 21, 2021 |
OGT | 1 | Dec 21, 2021 |
OPHN1 | 2 | Dec 21, 2021 |
OXCT1 | 1 | Jul 14, 2020 |
P2RX2 | 1 | Dec 21, 2021 |
PACS1 | 1 | Dec 21, 2021 |
PAH | 7 | Nov 4, 2022 |
PAK1 | 2 | Dec 21, 2021 |
PARS2 | 1 | Aug 5, 2020 |
PAX6 | 1 | Aug 5, 2020 |
PBX1 | 1 | Aug 5, 2020 |
PCCA | 1 | Dec 21, 2021 |
PCCB | 1 | Aug 5, 2020 |
PCLO | 2 | Dec 21, 2021 |
PDE11A | 4 | Dec 21, 2021 |
PDE11A-AS1 | 2 | Dec 21, 2021 |
PDGFRA | 1 | Dec 21, 2021 |
PDGFRB | 2 | Dec 21, 2021 |
PEX1 | 3 | Nov 4, 2022 |
PEX2 | 1 | Aug 5, 2020 |
PEX6 | 3 | Dec 21, 2021 |
PGAP1 | 2 | Dec 21, 2021 |
PGAP3 | 2 | Nov 29, 2021 |
PHEX | 1 | Dec 21, 2021 |
PHIP | 1 | Dec 21, 2021 |
PHKA1 | 1 | Dec 21, 2021 |
PHKG2 | 2 | Jul 14, 2020 |
PI4KA | 1 | Dec 21, 2021 |
PIEZO2 | 1 | Aug 5, 2020 |
PIGN | 4 | Dec 21, 2021 |
PIGO | 2 | Dec 21, 2021 |
PIK3CA | 3 | Dec 21, 2021 |
PINK1 | 2 | Dec 21, 2021 |
PINK1-AS | 2 | Dec 21, 2021 |
PKD1 | 1 | Dec 21, 2021 |
PKD1L1 | 2 | Dec 21, 2021 |
PKD2 | 1 | Dec 21, 2021 |
PKD2L2-DT | 1 | Dec 21, 2021 |
PLA2G6 | 4 | Dec 21, 2021 |
PLCG2 | 2 | Dec 21, 2021 |
PLEC | 2 | Dec 21, 2021 |
PMM2 | 3 | Dec 21, 2021 |
PMP2 | 1 | Dec 21, 2021 |
PMS2 | 1 | Dec 21, 2021 |
PNP | 1 | Dec 21, 2021 |
POGZ | 2 | Dec 21, 2021 |
POLA1 | 1 | Dec 21, 2021 |
POLG | 4 | Dec 21, 2021 |
POLG2 | 1 | Dec 21, 2021 |
POLGARF | 4 | Dec 21, 2021 |
POLR1A | 1 | Dec 21, 2021 |
POLR1C | 3 | Dec 21, 2021 |
POLR3A | 1 | Aug 5, 2020 |
POMT1 | 1 | Aug 5, 2020 |
POR | 1 | Nov 29, 2021 |
PPA2 | 1 | Dec 21, 2021 |
PPOX | 1 | Dec 21, 2021 |
PPP2R1A | 1 | Dec 21, 2021 |
PPT1 | 2 | Dec 21, 2021 |
PREPL | 1 | Aug 5, 2020 |
PRF1 | 1 | Jul 14, 2020 |
PRG4 | 3 | Aug 5, 2020 |
PRKCG | 3 | Dec 21, 2021 |
PRKN | 7 | Dec 21, 2021 |
PRNP | 2 | Dec 21, 2021 |
PRPF31 | 1 | Dec 21, 2021 |
PRPF31-AS1 | 1 | Dec 21, 2021 |
PRPS1 | 1 | Dec 21, 2021 |
PRRT2 | 2 | Dec 21, 2021 |
PRSS1 | 2 | Jul 14, 2020 |
PRUNE1 | 2 | Dec 21, 2021 |
PTCH1 | 2 | Nov 4, 2022 |
PTCHD1 | 1 | Dec 21, 2021 |
PTCHD1-AS | 1 | Dec 21, 2021 |
PTEN | 10 | Dec 21, 2021 |
PTPN11 | 4 | Dec 21, 2021 |
PURA | 3 | Dec 21, 2021 |
PUS3 | 1 | Aug 5, 2020 |
PYCR1 | 2 | Aug 5, 2020 |
PYGM | 1 | Dec 21, 2021 |
RAB27A | 1 | Aug 5, 2020 |
RAB40AL | 1 | Dec 21, 2021 |
RAC1 | 1 | Aug 5, 2020 |
RAF1 | 1 | Dec 21, 2021 |
RAI1 | 1 | Dec 21, 2021 |
RALGAPA1 | 1 | Dec 21, 2021 |
RAPSN | 1 | Nov 29, 2021 |
RARS2 | 1 | Aug 5, 2020 |
RASA1 | 2 | Dec 21, 2021 |
RB1 | 1 | Dec 21, 2021 |
RELB | 1 | Jul 14, 2020 |
RELN | 3 | Dec 21, 2021 |
RERE | 1 | Dec 21, 2021 |
RIT1 | 1 | Aug 5, 2020 |
RNASEH2B | 1 | Dec 21, 2021 |
RNF13 | 1 | Dec 21, 2021 |
ROBO3 | 2 | Aug 5, 2020 |
RP1L1 | 1 | Dec 21, 2021 |
RPGRIP1 | 1 | Aug 5, 2020 |
RPL36A-HNRNPH2 | 4 | Dec 21, 2021 |
RPS6KA3 | 2 | Dec 21, 2021 |
RSPH4A | 2 | Dec 21, 2021 |
RUBCN | 1 | Dec 21, 2021 |
RYR1 | 3 | Dec 21, 2021 |
SAMD9 | 1 | Dec 21, 2021 |
SATB2 | 1 | Dec 21, 2021 |
SBDS | 1 | Nov 29, 2021 |
SC5D | 1 | Nov 4, 2022 |
SCAMP4 | 3 | Dec 21, 2021 |
SCN10A | 1 | Dec 21, 2021 |
SCN1A | 2 | Dec 21, 2021 |
SCN1A-AS1 | 1 | Dec 21, 2021 |
SCN2A | 7 | Dec 21, 2021 |
SCN5A | 3 | Dec 21, 2021 |
SCN8A | 1 | Dec 21, 2021 |
SCN9A | 1 | Dec 21, 2021 |
SCYL1 | 1 | Aug 5, 2020 |
SELENON | 2 | Dec 21, 2021 |
SERPINA1 | 1 | Nov 29, 2021 |
SERPING1 | 1 | Dec 21, 2021 |
SETBP1 | 1 | Dec 21, 2021 |
SETD2 | 1 | Dec 21, 2021 |
SETD5 | 1 | Nov 4, 2022 |
SETX | 1 | Dec 21, 2021 |
SGCE | 1 | Dec 21, 2021 |
SGPL1 | 1 | Aug 5, 2020 |
SHANK2 | 2 | Dec 21, 2021 |
SHANK3 | 5 | Dec 21, 2021 |
SHOC2 | 1 | Dec 21, 2021 |
SI | 1 | Jul 14, 2020 |
SIK1 | 1 | Dec 21, 2021 |
SLC12A3 | 3 | Dec 21, 2021 |
SLC12A6 | 3 | Dec 21, 2021 |
SLC19A1 | 1 | Aug 5, 2020 |
SLC19A3 | 1 | Jul 14, 2020 |
SLC20A2 | 1 | Dec 21, 2021 |
SLC22A5 | 3 | Nov 4, 2022 |
SLC25A15 | 2 | Jul 14, 2020 |
SLC25A20 | 2 | Dec 21, 2021 |
SLC25A42 | 1 | Aug 5, 2020 |
SLC26A5-AS1 | 2 | Dec 21, 2021 |
SLC34A3 | 1 | Jul 14, 2020 |
SLC36A1 | 1 | Dec 21, 2021 |
SLC37A4 | 3 | Jul 14, 2020 |
SLC3A1 | 2 | Dec 21, 2021 |
SLC5A1 | 1 | Jul 14, 2020 |
SLC6A3 | 1 | Dec 21, 2021 |
SLC6A8 | 1 | Aug 5, 2020 |
SLC9A6 | 2 | Dec 21, 2021 |
SLCO1B3 | 1 | Dec 21, 2021 |
SLCO1B3-SLCO1B7 | 1 | Dec 21, 2021 |
SLITRK1 | 1 | Dec 21, 2021 |
SMAD3 | 2 | Dec 21, 2021 |
SMARCA2 | 1 | Dec 21, 2021 |
SMN1 | 1 | Jul 14, 2020 |
SMPD1 | 8 | Nov 29, 2021 |
SNCB | 1 | Dec 21, 2021 |
SNX14 | 1 | Dec 21, 2021 |
SOD1 | 1 | Jul 14, 2020 |
SON | 1 | Dec 21, 2021 |
SOX11 | 2 | Nov 4, 2022 |
SOX4 | 1 | Dec 21, 2021 |
SPAST | 1 | Dec 21, 2021 |
SPATA22 | 2 | Jul 14, 2020 |
SPG11 | 3 | Aug 5, 2020 |
SPG7 | 3 | Dec 21, 2021 |
SPRED1 | 1 | Dec 21, 2021 |
SPTA1 | 3 | Nov 29, 2021 |
SPTBN2 | 2 | Dec 21, 2021 |
SPTLC2 | 2 | Dec 21, 2021 |
SQSTM1 | 1 | Nov 29, 2021 |
SRFBP1 | 1 | Aug 5, 2020 |
STAC3 | 1 | Dec 21, 2021 |
STAG1 | 1 | Dec 21, 2021 |
STIM1 | 1 | Dec 21, 2021 |
STUB1 | 2 | Dec 21, 2021 |
STXBP1 | 1 | Dec 21, 2021 |
STXBP2 | 1 | Jul 14, 2020 |
SYNE1 | 3 | Dec 21, 2021 |
SYNE2 | 1 | Dec 21, 2021 |
SYNGAP1 | 1 | Dec 21, 2021 |
SYT1 | 1 | Dec 21, 2021 |
TAB2 | 1 | Aug 5, 2020 |
TAF1 | 3 | Dec 21, 2021 |
TANGO2 | 1 | Jul 14, 2020 |
TBCD | 1 | Aug 5, 2020 |
TBCE | 1 | Nov 29, 2021 |
TBCK | 2 | Dec 21, 2021 |
TBK1 | 2 | Dec 21, 2021 |
TBX4 | 1 | Aug 5, 2020 |
TCF12 | 1 | Dec 21, 2021 |
TCF3 | 1 | Dec 21, 2021 |
TCF4 | 5 | Nov 4, 2022 |
TGFBR2 | 1 | Dec 21, 2021 |
TGM6 | 1 | Dec 21, 2021 |
TJP2 | 2 | Jul 14, 2020 |
TLK2 | 1 | Dec 21, 2021 |
TLR3 | 1 | Dec 21, 2021 |
TMEM260 | 2 | Aug 5, 2020 |
TMPRSS15 | 2 | Jul 14, 2020 |
TNFRSF13B | 1 | Dec 21, 2021 |
TNNI2 | 3 | Dec 21, 2021 |
TNNT2 | 1 | Jul 14, 2020 |
TNPO3 | 1 | Dec 21, 2021 |
TNXB | 3 | Dec 21, 2021 |
TP53 | 3 | Dec 21, 2021 |
TP63 | 1 | Dec 21, 2021 |
TPH2 | 1 | Dec 21, 2021 |
TPM2 | 1 | Dec 21, 2021 |
TPM3 | 1 | Aug 5, 2020 |
TRAPPC6B | 1 | Aug 5, 2020 |
TRAPPC9 | 2 | Dec 21, 2021 |
TRB | 2 | Jul 14, 2020 |
TREX1 | 2 | Dec 21, 2021 |
TRIM71 | 1 | Dec 21, 2021 |
TRIO | 1 | Dec 21, 2021 |
TRIP12 | 2 | Dec 21, 2021 |
TRIP4 | 2 | Dec 15, 2021 |
TRMT10A | 1 | Aug 5, 2020 |
TRMU | 1 | Jul 14, 2020 |
TRPC6 | 1 | Dec 21, 2021 |
TRPV4 | 2 | Dec 21, 2021 |
TRRAP | 3 | Dec 21, 2021 |
TSC1 | 1 | Dec 21, 2021 |
TSC2 | 3 | Dec 21, 2021 |
TTBK2 | 1 | Dec 21, 2021 |
TTN | 7 | Dec 21, 2021 |
TTN-AS1 | 2 | Dec 21, 2021 |
TTPA | 1 | Dec 21, 2021 |
TUBB | 1 | Dec 21, 2021 |
TUBB4A | 1 | Dec 21, 2021 |
TUBB6 | 1 | Dec 21, 2021 |
UBTF | 1 | Dec 21, 2021 |
UFM1 | 1 | Aug 5, 2020 |
UGDH | 1 | Aug 5, 2020 |
UGT1A | 4 | Aug 5, 2020 |
UGT1A1 | 4 | Aug 5, 2020 |
UGT1A10 | 4 | Aug 5, 2020 |
UGT1A3 | 4 | Aug 5, 2020 |
UGT1A4 | 4 | Aug 5, 2020 |
UGT1A5 | 4 | Aug 5, 2020 |
UGT1A6 | 4 | Aug 5, 2020 |
UGT1A7 | 4 | Aug 5, 2020 |
UGT1A8 | 4 | Aug 5, 2020 |
UGT1A9 | 4 | Aug 5, 2020 |
UNC13D | 1 | Dec 21, 2021 |
UNC80 | 2 | Dec 21, 2021 |
UROD | 1 | Nov 29, 2021 |
USP9X | 2 | Dec 21, 2021 |
VCP | 1 | Dec 21, 2021 |
VPS13A | 2 | Dec 21, 2021 |
VPS13B | 1 | Aug 5, 2020 |
VRK1 | 2 | Dec 21, 2021 |
VWF | 2 | Dec 21, 2021 |
WAC | 1 | Dec 21, 2021 |
WDPCP | 1 | Aug 5, 2020 |
WDR26 | 1 | Dec 21, 2021 |
WDR45 | 1 | Dec 21, 2021 |
WDR62 | 2 | Dec 21, 2021 |
WFS1 | 1 | Dec 21, 2021 |
WWOX | 2 | Dec 21, 2021 |
XIAP | 1 | Jul 14, 2020 |
XRCC2 | 1 | Aug 5, 2020 |
XYLT2 | 1 | Aug 5, 2020 |
YY1 | 1 | Dec 21, 2021 |
ZBTB20 | 1 | Dec 21, 2021 |
ZBTB24 | 1 | Jul 14, 2020 |
ZC4H2 | 1 | Dec 21, 2021 |
ZDHHC9 | 1 | Dec 21, 2021 |
ZEB2 | 3 | Dec 21, 2021 |
ZIC1 | 1 | Dec 21, 2021 |
ZMYND11 | 1 | Dec 21, 2021 |
ZP3 | 1 | Dec 21, 2021 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
11p partial monosomy syndrome | 1 test |
2-aminoadipic 2-oxoadipic aciduria | 1 test |
3 beta-Hydroxysteroid dehydrogenase deficiency | 9 tests |
3-Methylglutaconic aciduria type 2 | 7 tests |
3-Methylglutaconic aciduria type 3 | 1 test |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 7 tests |
3-methylcrotonyl-CoA carboxylase 1 deficiency | 7 tests |
3-methylcrotonyl-CoA carboxylase 2 deficiency | 8 tests |
3-methylglutaconic aciduria type 1 | 9 tests |
3-methylglutaconic aciduria type 5 | 8 tests |
3-methylglutaconic aciduria type 8 | 8 tests |
3-methylglutaconic aciduria type 9 | 5 tests |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 9 tests |
3-methylglutaconic aciduria, type VIIA | 1 test |
3-methylglutaconic aciduria, type VIIB | 1 test |
3M syndrome 1 | 5 tests |
3M syndrome 2 | 3 tests |
3M syndrome 3 | 1 test |
3MC syndrome 1 | 3 tests |
3MC syndrome 2 | 2 tests |
3MC syndrome 3 | 2 tests |
46,XX ovarian dysgenesis-short stature syndrome | 2 tests |
46,XX sex reversal 4 | 1 test |
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 3 tests |
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | 1 test |
46,XY sex reversal 1 | 1 test |
46,XY sex reversal 2 | 5 tests |
46,XY sex reversal 3 | 1 test |
46,XY sex reversal 6 | 1 test |
46,XY sex reversal 7 | 3 tests |
46,XY sex reversal 9 | 3 tests |
46,xx sex reversal 5 | 1 test |
5p partial monosomy syndrome | 1 test |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 8 tests |
ABCD syndrome | 7 tests |
ABri amyloidosis | 1 test |
ACTH-independent macronodular adrenal hyperplasia 1 | 3 tests |
ACTH-independent macronodular adrenal hyperplasia 2 | 5 tests |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 3 tests |
ADULT syndrome | 4 tests |
ADan amyloidosis | 5 tests |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 4 tests |
AICA-ribosiduria | 4 tests |
ALDH18A1-related de Barsy syndrome | 1 test |
ALG1-congenital disorder of glycosylation | 5 tests |
ALG11-congenital disorder of glycosylation | 7 tests |
ALG12-congenital disorder of glycosylation | 6 tests |
ALG2-congenital disorder of glycosylation | 1 test |
ALG3-congenital disorder of glycosylation | 6 tests |
ALG6-congenital disorder of glycosylation 1C | 5 tests |
ALG8 congenital disorder of glycosylation | 4 tests |
ALG9 congenital disorder of glycosylation | 1 test |
Aarskog syndrome | 4 tests |
Abdominal obesity-metabolic syndrome 3 | 2 tests |
Abetalipoproteinaemia | 5 tests |
Ablepharon macrostomia syndrome | 1 test |
Abortive cerebellar ataxia | 9 tests |
Abruzzo-Erickson syndrome | 1 test |
Absence seizure | 1 test |
Acatalasia | 3 tests |
Accelerated tumor formation, susceptibility to | 1 test |
Acetyl-CoA: carboxylase deficiency | 3 tests |
Achondrogenesis type II | 1 test |
Achondrogenesis, type IA | 4 tests |
Achondrogenesis, type IB | 1 test |
Achondroplasia | 1 test |
Achromatopsia 2 | 2 tests |
Achromatopsia 3 | 5 tests |
Achromatopsia 4 | 2 tests |
Achromatopsia 7 | 2 tests |
Acne inversa, familial, 1 | 2 tests |
Acne inversa, familial, 2 | 2 tests |
Acne inversa, familial, 3 | 1 test |
Acquired hemoglobin H disease | 12 tests |
Acral peeling skin syndrome | 2 tests |
Acrocallosal syndrome | 10 tests |
Acrocapitofemoral dysplasia | 4 tests |
Acrocephalosyndactyly type I | 1 test |
Acrodermatitis continua suppurativa of Hallopeau | 2 tests |
Acrodysostosis 1 with or without hormone resistance | 8 tests |
Acrodysostosis 2 with or without hormone resistance | 5 tests |
Acroerythrokeratoderma | 1 test |
Acrokeratosis verruciformis of Hopf | 1 test |
Acromelic frontonasal dysostosis | 1 test |
Acromesomelic dysplasia 1, Maroteaux type | 1 test |
Acromesomelic dysplasia 2B | 1 test |
Acromesomelic dysplasia 3 | 1 test |
Acromicric dysplasia | 2 tests |
Acroosteolysis-keloid-like lesions-premature aging syndrome | 1 test |
Actin accumulation myopathy | 6 tests |
Action myoclonus-renal failure syndrome | 6 tests |
Acute febrile neutrophilic dermatosis | 2 tests |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 test |
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 4 tests |
Acute intermittent porphyria | 6 tests |
Acute lymphoid leukemia | 8 tests |
Acute myeloid leukemia | 7 tests |
Acute necrotizing encephalopathy of childhood | 1 test |
Acute promyelocytic leukemia | 1 test |
Acyl-CoA dehydrogenase 9 deficiency | 9 tests |
Acyl-CoA oxidase deficiency | 1 test |
Adams-Oliver syndrome 1 | 8 tests |
Adams-Oliver syndrome 2 | 5 tests |
Adams-Oliver syndrome 3 | 2 tests |
Adams-Oliver syndrome 4 | 4 tests |
Adams-Oliver syndrome 5 | 3 tests |
Adams-Oliver syndrome 6 | 4 tests |
Adenine phosphoribosyltransferase deficiency | 1 test |
Adenosine kinase deficiency | 5 tests |
Adenylosuccinate lyase deficiency | 7 tests |
Adermatoglyphia | 1 test |
Adrenocortical carcinoma, hereditary | 8 tests |
Adrenoleukodystrophy | 12 tests |
Adult hepatocellular carcinoma | 3 tests |
Adult hypophosphatasia | 9 tests |
Adult polyglucosan body disease | 10 tests |
Adult-onset autosomal dominant demyelinating leukodystrophy | 1 test |
Adult-onset proximal spinal muscular atrophy, autosomal dominant | 1 test |
Advanced sleep phase syndrome 1 | 3 tests |
Agammaglobulinemia 2, autosomal recessive | 2 tests |
Agammaglobulinemia 3, autosomal recessive | 3 tests |
Agammaglobulinemia 4, autosomal recessive | 3 tests |
Agammaglobulinemia 5, autosomal dominant | 2 tests |
Agammaglobulinemia 6, autosomal recessive | 3 tests |
Agammaglobulinemia 7, autosomal recessive | 1 test |
Agammaglobulinemia 8, autosomal dominant | 1 test |
Agammaglobulinemia 8b, autosomal recessive | 1 test |
Age related macular degeneration 1 | 2 tests |
Age related macular degeneration 12 | 1 test |
Age related macular degeneration 13 | 1 test |
Age related macular degeneration 14 | 3 tests |
Age related macular degeneration 15 | 1 test |
Age related macular degeneration 2 | 1 test |
Age related macular degeneration 5 | 1 test |
Age related macular degeneration 6 | 2 tests |
Age related macular degeneration 7 | 4 tests |
Age related macular degeneration 9 | 1 test |
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 1 test |
Agenesis of the corpus callosum with peripheral neuropathy | 5 tests |
Aggressive systemic mastocytosis | 1 test |
Agnathia-otocephaly complex | 1 test |
Aicardi Goutieres syndrome | 1 test |
Aicardi-Goutieres syndrome 1 | 1 test |
Aicardi-Goutieres syndrome 2 | 10 tests |
Aicardi-Goutieres syndrome 3 | 7 tests |
Aicardi-Goutieres syndrome 4 | 8 tests |
Aicardi-Goutieres syndrome 5 | 7 tests |
Aicardi-Goutieres syndrome 6 | 2 tests |
Aicardi-Goutieres syndrome 7 | 1 test |
Alacrima, achalasia, and intellectual disability syndrome | 6 tests |
Alagille syndrome due to a JAG1 point mutation | 1 test |
Alagille syndrome due to a NOTCH2 point mutation | 2 tests |
Alazami-Yuan syndrome | 4 tests |
Alcohol dependence | 1 test |
Alcohol sensitivity, acute | 3 tests |
Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 test |
Alexander disease | 8 tests |
Alkaptonuria | 5 tests |
Alkuraya-Kucinskas syndrome | 3 tests |
Allan-Herndon-Dudley syndrome | 8 tests |
Alobar holoprosencephaly | 1 test |
Alopecia universalis congenita | 1 test |
Alopecia-intellectual disability syndrome 4 | 1 test |
Alpha mannosidosis type II | 6 tests |
Alpha thalassemia-X-linked intellectual disability syndrome | 1 test |
Alpha-1-antitrypsin deficiency | 5 tests |
Alpha-2-plasmin inhibitor deficiency | 2 tests |
Alpha-N-acetylgalactosaminidase deficiency type 1 | 12 tests |
Alpha-N-acetylgalactosaminidase deficiency type 2 | 1 test |
Alpha-methylacyl-CoA racemase deficiency | 5 tests |
Alternating hemiplegia of childhood 1 | 1 test |
Alternating hemiplegia of childhood 2 | 1 test |
Alveolar capillary dysplasia with pulmonary venous misalignment | 2 tests |
Alveolar rhabdomyosarcoma | 5 tests |
Alzheimer disease 2 | 6 tests |
Alzheimer disease 3 | 7 tests |
Alzheimer disease 4 | 1 test |
Alzheimer disease 9 | 3 tests |
Alzheimer disease type 1 | 5 tests |
Amelocerebrohypohidrotic syndrome | 3 tests |
Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 1 test |
Amelogenesis imperfecta type 1A | 1 test |
Amelogenesis imperfecta type 1C | 1 test |
Amelogenesis imperfecta type 1E | 2 tests |
Amelogenesis imperfecta type 1H | 1 test |
Aminoacylase 1 deficiency | 5 tests |
Aminoglycoside-induced deafness | 7 tests |
Amish lethal microcephaly | 9 tests |
Amyloidosis, hereditary systemic 1 | 5 tests |
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | 1 test |
Amyotrophic lateral sclerosis type 1 | 9 tests |
Amyotrophic lateral sclerosis type 10 | 3 tests |
Amyotrophic lateral sclerosis type 11 | 1 test |
Amyotrophic lateral sclerosis type 12 | 4 tests |
Amyotrophic lateral sclerosis type 15 | 3 tests |
Amyotrophic lateral sclerosis type 16 | 1 test |
Amyotrophic lateral sclerosis type 18 | 3 tests |
Amyotrophic lateral sclerosis type 19 | 4 tests |
Amyotrophic lateral sclerosis type 2, juvenile | 1 test |
Amyotrophic lateral sclerosis type 20 | 2 tests |
Amyotrophic lateral sclerosis type 21 | 4 tests |
Amyotrophic lateral sclerosis type 22 | 6 tests |
Amyotrophic lateral sclerosis type 23 | 1 test |
Amyotrophic lateral sclerosis type 4 | 6 tests |
Amyotrophic lateral sclerosis type 5 | 1 test |
Amyotrophic lateral sclerosis type 6 | 4 tests |
Amyotrophic lateral sclerosis type 8 | 4 tests |
Amyotrophic lateral sclerosis type 9 | 3 tests |
Amyotrophic lateral sclerosis, susceptibility to, 24 | 7 tests |
Amyotrophic lateral sclerosis, susceptibility to, 25 | 1 test |
Amyotrophic neuralgia | 1 test |
Anaplastic oligoastrocytoma | 2 tests |
Anauxetic dysplasia 2 | 3 tests |
Anauxetic dysplasia 3 | 2 tests |
Andersen Tawil syndrome | 4 tests |
Androgen resistance syndrome | 3 tests |
Anemia, congenital dyserythropoietic, type 1a | 2 tests |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 10 tests |
Aneurysm-osteoarthritis syndrome | 4 tests |
Angelman syndrome | 6 tests |
Angelman syndrome due to imprinting defect in 15q11-q13 | 1 test |
Angioedema, hereditary, 4 | 1 test |
Aniridia 1 | 1 test |
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 1 test |
Annular epidermolytic ichthyosis | 2 tests |
Anophthalmia/microphthalmia-esophageal atresia syndrome | 10 tests |
Anterior segment dysgenesis 1 | 1 test |
Anterior segment dysgenesis 4 | 1 test |
Anterior segment dysgenesis 6 | 4 tests |
Anterior segment dysgenesis 7 | 5 tests |
Antigen in Cartwright blood group system | 3 tests |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 6 tests |
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 1 test |
Anxiety | 3 tests |
Aortic aneurysm, familial thoracic 10 | 3 tests |
Aortic aneurysm, familial thoracic 4 | 1 test |
Aortic aneurysm, familial thoracic 6 | 1 test |
Aortic aneurysm, familial thoracic 7 | 1 test |
Aortic aneurysm, familial thoracic 8 | 4 tests |
Aortic aneurysm, familial thoracic 9 | 4 tests |
Aortic valve disease 1 | 7 tests |
Aortic valve disease 3 | 2 tests |
Aplastic anemia | 13 tests |
Apolipoprotein c-III deficiency | 2 tests |
Apparent mineralocorticoid excess | 2 tests |
Arginase deficiency | 7 tests |
Arginine:glycine amidinotransferase deficiency | 1 test |
Argininosuccinate lyase deficiency | 6 tests |
Ariboflavinosis | 2 tests |
Aromatase deficiency | 6 tests |
Aromatase excess syndrome | 1 test |
Arrhinia with choanal atresia and microphthalmia syndrome | 1 test |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 test |
Arrhythmogenic right ventricular dysplasia 1 | 6 tests |
Arrhythmogenic right ventricular dysplasia 10 | 1 test |
Arrhythmogenic right ventricular dysplasia 11 | 2 tests |
Arrhythmogenic right ventricular dysplasia 12 | 1 test |
Arrhythmogenic right ventricular dysplasia 13 | 4 tests |
Arrhythmogenic right ventricular dysplasia 2 | 1 test |
Arrhythmogenic right ventricular dysplasia 5 | 1 test |
Arrhythmogenic right ventricular dysplasia 8 | 1 test |
Arrhythmogenic right ventricular dysplasia 9 | 1 test |
Arrhythmogenic right ventricular dysplasia, familial, 14 | 2 tests |
Arterial calcification, generalized, of infancy, 1 | 5 tests |
Arterial calcification, generalized, of infancy, 2 | 1 test |
Arterial tortuosity syndrome | 5 tests |
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 3 tests |
Arthrogryposis multiplex congenita 3, myogenic type | 1 test |
Arthrogryposis multiplex congenita 5 | 4 tests |
Arthrogryposis multiplex congenita 6 | 5 tests |
Arthrogryposis, Perthes disease, and upward gaze palsy | 1 test |
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 3 tests |
Arthrogryposis, distal, IIa 11 | 1 test |
Arthrogryposis, distal, type 1A | 1 test |
Arthrogryposis, distal, type 1B | 1 test |
Arthrogryposis, distal, type 2B2 | 4 tests |
Arthrogryposis, distal, type 2B3 | 1 test |
Arthrogryposis, distal, with impaired proprioception and touch | 4 tests |
Arthrogryposis, renal dysfunction, and cholestasis 1 | 8 tests |
Arthrogryposis, renal dysfunction, and cholestasis 2 | 7 tests |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 test |
Aspartylglucosaminuria | 6 tests |
Asperger syndrome, X-linked, susceptibility to, 1 | 3 tests |
Asperger syndrome, X-linked, susceptibility to, 2 | 1 test |
Asphyxiating thoracic dystrophy 2 | 4 tests |
Asphyxiating thoracic dystrophy 3 | 6 tests |
Asphyxiating thoracic dystrophy 4 | 1 test |
Asphyxiating thoracic dystrophy 5 | 1 test |
Astrocytoma, anaplastic | 2 tests |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 5 tests |
Ataxia - oculomotor apraxia type 4 | 3 tests |
Ataxia with oculomotor apraxia type 3 | 5 tests |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 9 tests |
Ataxia-hypogonadism-choroidal dystrophy syndrome | 1 test |
Ataxia-pancytopenia syndrome | 2 tests |
Ataxia-telangiectasia syndrome | 17 tests |
Ataxia-telangiectasia-like disorder 1 | 10 tests |
Ataxia-telangiectasia-like disorder 2 | 1 test |
Atelosteogenesis type I | 4 tests |
Atelosteogenesis type II | 7 tests |
Atelosteogenesis type III | 1 test |
Atrial conduction disease | 2 tests |
Atrial fibrillation, familial, 10 | 1 test |
Atrial fibrillation, familial, 11 | 1 test |
Atrial fibrillation, familial, 12 | 2 tests |
Atrial fibrillation, familial, 14 | 2 tests |
Atrial fibrillation, familial, 18 | 2 tests |
Atrial fibrillation, familial, 4 | 1 test |
Atrial fibrillation, familial, 6 | 1 test |
Atrial fibrillation, familial, 7 | 3 tests |
Atrial fibrillation, familial, 9 | 2 tests |
Atrial septal defect 2 | 4 tests |
Atrial septal defect 3 | 1 test |
Atrial septal defect 4 | 1 test |
Atrial septal defect 5 | 1 test |
Atrial septal defect 6 | 2 tests |
Atrial septal defect 7 | 2 tests |
Atrial septal defect 8 | 1 test |
Atrial septal defect 9 | 1 test |
Atrial standstill 1 | 2 tests |
Atrial standstill 2 | 2 tests |
Atrichia with papular lesions | 1 test |
Atrioventricular septal defect 5 | 1 test |
Atrioventricular septal defect, susceptibility to, 2 | 5 tests |
Attention deficit-hyperactivity disorder 8 | 1 test |
Atypical glycine encephalopathy | 3 tests |
Atypical hemolytic-uremic syndrome with B factor anomaly | 1 test |
Atypical hemolytic-uremic syndrome with C3 anomaly | 3 tests |
Atypical hemolytic-uremic syndrome with I factor anomaly | 3 tests |
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 2 tests |
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 4 tests |
Auditory neuropathy, autosomal dominant 3 | 1 test |
Auditory neuropathy-optic atrophy syndrome | 6 tests |
Auriculocondylar syndrome 1 | 1 test |
Auriculocondylar syndrome 2 | 2 tests |
Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 4 tests |
Autism spectrum disorder due to AUTS2 deficiency | 2 tests |
Autism, susceptibility to, 15 | 4 tests |
Autism, susceptibility to, 16 | 2 tests |
Autism, susceptibility to, 17 | 2 tests |
Autism, susceptibility to, 5 | 2 tests |
Autism, susceptibility to, X-linked 1 | 1 test |
Autism, susceptibility to, X-linked 2 | 3 tests |
Autism, susceptibility to, X-linked 3 | 7 tests |
Autism, susceptibility to, X-linked 4 | 2 tests |
Autism, susceptibility to, X-linked 5 | 1 test |
Autoimmune disease, multisystem, infantile-onset, 2 | 1 test |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 test |
Autoimmune interstitial lung disease-arthritis syndrome | 2 tests |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 1 test |
Autoimmune lymphoproliferative syndrome type 1 | 8 tests |
Autoimmune lymphoproliferative syndrome type 2A | 1 test |
Autoimmune lymphoproliferative syndrome type 2B | 1 test |
Autoimmune lymphoproliferative syndrome type 4 | 6 tests |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 3 tests |
Autoimmune thrombocytopenic purpura | 2 tests |
Autoimmune thyroid disease, susceptibility to, 3 | 3 tests |
Autoinflammation with arthritis and dyskeratosis | 1 test |
Autoinflammation with episodic fever and lymphadenopathy | 1 test |
Autoinflammation, immune dysregulation, and eosinophilia | 1 test |
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 5 tests |
Autoinflammatory disease, X-linked | 1 test |
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | 1 test |
Autoinflammatory syndrome, familial, Behcet-like 1 | 2 tests |
Autosomal dominant Alport syndrome | 1 test |
Autosomal dominant Charcot-Marie-Tooth disease type 2W | 3 tests |
Autosomal dominant Kenny-Caffey syndrome | 1 test |
Autosomal dominant Parkinson disease 1 | 1 test |
Autosomal dominant Parkinson disease 4 | 4 tests |
Autosomal dominant Parkinson disease 8 | 3 tests |
Autosomal dominant Robinow syndrome 1 | 6 tests |
Autosomal dominant Robinow syndrome 3 | 4 tests |
Autosomal dominant aplasia and myelodysplasia | 2 tests |
Autosomal dominant auditory neuropathy 1 | 2 tests |
Autosomal dominant centronuclear myopathy | 6 tests |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 6 tests |
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 deafness - onychodystrophy syndrome | 1 test |
Autosomal dominant distal renal tubular acidosis | 1 test |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 test |
Autosomal dominant hypocalcemia 1 | 8 tests |
Autosomal dominant hypocalcemia 2 | 4 tests |
Autosomal dominant hypophosphatemic rickets | 7 tests |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 4 tests |
Autosomal dominant isolated somatotropin deficiency | 1 test |
Autosomal dominant keratitis | 1 test |
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 1 test |
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 3 tests |
Autosomal dominant limb-girdle muscular dystrophy type 1F | 3 tests |
Autosomal dominant limb-girdle muscular dystrophy type 1G | 3 tests |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 2 tests |
Autosomal dominant mitochondrial myopathy with exercise intolerance | 3 tests |
Autosomal dominant nocturnal frontal lobe epilepsy 1 | 3 tests |
Autosomal dominant nocturnal frontal lobe epilepsy 3 | 3 tests |
Autosomal dominant nocturnal frontal lobe epilepsy 4 | 3 tests |
Autosomal dominant nocturnal frontal lobe epilepsy 5 | 5 tests |
Autosomal dominant non-syndromic intellectual disability | 3 tests |
Autosomal dominant nonsyndromic hearing loss 1 | 7 tests |
Autosomal dominant nonsyndromic hearing loss 10 | 1 test |
Autosomal dominant nonsyndromic hearing loss 11 | 1 test |
Autosomal dominant nonsyndromic hearing loss 12 | 1 test |
Autosomal dominant nonsyndromic hearing loss 13 | 8 tests |
Autosomal dominant nonsyndromic hearing loss 15 | 1 test |
Autosomal dominant nonsyndromic hearing loss 17 | 1 test |
Autosomal dominant nonsyndromic hearing loss 22 | 1 test |
Autosomal dominant nonsyndromic hearing loss 23 | 1 test |
Autosomal dominant nonsyndromic hearing loss 25 | 1 test |
Autosomal dominant nonsyndromic hearing loss 27 | 3 tests |
Autosomal dominant nonsyndromic hearing loss 28 | 1 test |
Autosomal dominant nonsyndromic hearing loss 2A | 1 test |
Autosomal dominant nonsyndromic hearing loss 2B | 1 test |
Autosomal dominant nonsyndromic hearing loss 36 | 1 test |
Autosomal dominant nonsyndromic hearing loss 3A | 1 test |
Autosomal dominant nonsyndromic hearing loss 3B | 4 tests |
Autosomal dominant nonsyndromic hearing loss 40 | 1 test |
Autosomal dominant nonsyndromic hearing loss 41 | 1 test |
Autosomal dominant nonsyndromic hearing loss 44 | 1 test |
Autosomal dominant nonsyndromic hearing loss 4A | 2 tests |
Autosomal dominant nonsyndromic hearing loss 4B | 1 test |
Autosomal dominant nonsyndromic hearing loss 5 | 1 test |
Autosomal dominant nonsyndromic hearing loss 56 | 1 test |
Autosomal dominant nonsyndromic hearing loss 6 | 11 tests |
Autosomal dominant nonsyndromic hearing loss 64 | 6 tests |
Autosomal dominant nonsyndromic hearing loss 65 | 1 test |
Autosomal dominant nonsyndromic hearing loss 66 | 1 test |
Autosomal dominant nonsyndromic hearing loss 67 | 1 test |
Autosomal dominant nonsyndromic hearing loss 68 | 1 test |
Autosomal dominant nonsyndromic hearing loss 69 | 1 test |
Autosomal dominant nonsyndromic hearing loss 70 | 1 test |
Autosomal dominant nonsyndromic hearing loss 9 | 2 tests |
Autosomal dominant optic atrophy classic form | 1 test |
Autosomal dominant popliteal pterygium syndrome | 3 tests |
Autosomal dominant pseudohypoaldosteronism type 1 | 6 tests |
Autosomal dominant sensory ataxia 1 | 1 test |
Autosomal dominant sideroblastic anemia | 5 tests |
Autosomal dominant slowed nerve conduction velocity | 3 tests |
Autosomal dominant striatal neurodegeneration type 1 | 1 test |
Autosomal dominant vitreoretinochoroidopathy | 1 test |
Autosomal dominant wooly hair | 1 test |
Autosomal recessive Alport syndrome | 6 tests |
Autosomal recessive DOPA responsive dystonia | 5 tests |
Autosomal recessive Kenny-Caffey syndrome | 5 tests |
Autosomal recessive Parkinson disease 14 | 1 test |
Autosomal recessive Robinow syndrome | 8 tests |
Autosomal recessive amelia | 1 test |
Autosomal recessive ataxia due to ubiquinone deficiency | 8 tests |
Autosomal recessive ataxia, Beauce type | 10 tests |
Autosomal recessive axonal neuropathy with neuromyotonia | 4 tests |
Autosomal recessive bestrophinopathy | 1 test |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 test |
Autosomal recessive complex spastic paraplegia type 9B | 1 test |
Autosomal recessive congenital ichthyosis 1 | 4 tests |
Autosomal recessive congenital ichthyosis 10 | 3 tests |
Autosomal recessive congenital ichthyosis 11 | 2 tests |
Autosomal recessive congenital ichthyosis 2 | 3 tests |
Autosomal recessive congenital ichthyosis 3 | 3 tests |
Autosomal recessive congenital ichthyosis 4A | 1 test |
Autosomal recessive congenital ichthyosis 4B | 4 tests |
Autosomal recessive congenital ichthyosis 5 | 3 tests |
Autosomal recessive congenital ichthyosis 6 | 3 tests |
Autosomal recessive congenital ichthyosis 8 | 3 tests |
Autosomal recessive congenital ichthyosis 9 | 3 tests |
Autosomal recessive cutis laxa type 2B | 2 tests |
Autosomal recessive cutis laxa type 2C | 3 tests |
Autosomal recessive cutis laxa type 2D | 5 tests |
Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
Autosomal recessive distal spinal muscular atrophy 2 | 3 tests |
Autosomal recessive early-onset Parkinson disease 23 | 3 tests |
Autosomal recessive early-onset Parkinson disease 6 | 3 tests |
Autosomal recessive early-onset Parkinson disease 7 | 4 tests |
Autosomal recessive hypophosphatemic bone disease | 5 tests |
Autosomal recessive inherited pseudoxanthoma elasticum | 10 tests |
Autosomal recessive juvenile Parkinson disease 2 | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 4 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2C | 5 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 5 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 3 tests |
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 | 8 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 4 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2P | 6 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | 5 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2R1 | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2T | 6 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2U | 6 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2X | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2Y | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type R18 | 3 tests |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 3 tests |
Autosomal recessive multiple pterygium syndrome | 4 tests |
Autosomal recessive nonsyndromic hearing loss 101 | 1 test |
Autosomal recessive nonsyndromic hearing loss 102 | 1 test |
Autosomal recessive nonsyndromic hearing loss 103 | 1 test |
Autosomal recessive nonsyndromic hearing loss 12 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 15 | 1 test |
Autosomal recessive nonsyndromic hearing loss 16 | 1 test |
Autosomal recessive nonsyndromic hearing loss 18A | 5 tests |
Autosomal recessive nonsyndromic hearing loss 18B | 1 test |
Autosomal recessive nonsyndromic hearing loss 1A | 8 tests |
Autosomal recessive nonsyndromic hearing loss 1B | 1 test |
Autosomal recessive nonsyndromic hearing loss 2 | 9 tests |
Autosomal recessive nonsyndromic hearing loss 21 | 4 tests |
Autosomal recessive nonsyndromic hearing loss 22 | 1 test |
Autosomal recessive nonsyndromic hearing loss 23 | 1 test |
Autosomal recessive nonsyndromic hearing loss 24 | 1 test |
Autosomal recessive nonsyndromic hearing loss 25 | 1 test |
Autosomal recessive nonsyndromic hearing loss 26 | 1 test |
Autosomal recessive nonsyndromic hearing loss 28 | 3 tests |
Autosomal recessive nonsyndromic hearing loss 29 | 1 test |
Autosomal recessive nonsyndromic hearing loss 3 | 1 test |
Autosomal recessive nonsyndromic hearing loss 30 | 1 test |
Autosomal recessive nonsyndromic hearing loss 31 | 1 test |
Autosomal recessive nonsyndromic hearing loss 32 | 1 test |
Autosomal recessive nonsyndromic hearing loss 35 | 1 test |
Autosomal recessive nonsyndromic hearing loss 36 | 1 test |
Autosomal recessive nonsyndromic hearing loss 37 | 3 tests |
Autosomal recessive nonsyndromic hearing loss 39 | 3 tests |
Autosomal recessive nonsyndromic hearing loss 4 | 6 tests |
Autosomal recessive nonsyndromic hearing loss 42 | 1 test |
Autosomal recessive nonsyndromic hearing loss 44 | 1 test |
Autosomal recessive nonsyndromic hearing loss 48 | 5 tests |
Autosomal recessive nonsyndromic hearing loss 49 | 1 test |
Autosomal recessive nonsyndromic hearing loss 53 | 1 test |
Autosomal recessive nonsyndromic hearing loss 59 | 1 test |
Autosomal recessive nonsyndromic hearing loss 6 | 1 test |
Autosomal recessive nonsyndromic hearing loss 61 | 1 test |
Autosomal recessive nonsyndromic hearing loss 63 | 1 test |
Autosomal recessive nonsyndromic hearing loss 66 | 1 test |
Autosomal recessive nonsyndromic hearing loss 67 | 1 test |
Autosomal recessive nonsyndromic hearing loss 68 | 1 test |
Autosomal recessive nonsyndromic hearing loss 7 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 70 | 1 test |
Autosomal recessive nonsyndromic hearing loss 74 | 5 tests |
Autosomal recessive nonsyndromic hearing loss 76 | 1 test |
Autosomal recessive nonsyndromic hearing loss 77 | 3 tests |
Autosomal recessive nonsyndromic hearing loss 79 | 1 test |
Autosomal recessive nonsyndromic hearing loss 8 | 1 test |
Autosomal recessive nonsyndromic hearing loss 84B | 1 test |
Autosomal recessive nonsyndromic hearing loss 86 | 1 test |
Autosomal recessive nonsyndromic hearing loss 88 | 1 test |
Autosomal recessive nonsyndromic hearing loss 89 | 5 tests |
Autosomal recessive nonsyndromic hearing loss 9 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 91 | 1 test |
Autosomal recessive nonsyndromic hearing loss 93 | 1 test |
Autosomal recessive nonsyndromic hearing loss 97 | 1 test |
Autosomal recessive nonsyndromic hearing loss 98 | 1 test |
Autosomal recessive omodysplasia | 6 tests |
Autosomal recessive optic atrophy, OPA7 type | 7 tests |
Autosomal recessive osteopetrosis 1 | 7 tests |
Autosomal recessive osteopetrosis 2 | 4 tests |
Autosomal recessive osteopetrosis 5 | 4 tests |
Autosomal recessive osteopetrosis 6 | 2 tests |
Autosomal recessive osteopetrosis 8 | 5 tests |
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | 2 tests |
Autosomal recessive proximal renal tubular acidosis | 5 tests |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 1 test |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 3 tests |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 4 tests |
Autosomal recessive spastic paraplegia type 76 | 5 tests |
Autosomal recessive spastic paraplegia type 78 | 1 test |
Autosomal recessive spinocerebellar ataxia 10 | 4 tests |
Autosomal recessive spinocerebellar ataxia 12 | 7 tests |
Autosomal recessive spinocerebellar ataxia 13 | 4 tests |
Autosomal recessive spinocerebellar ataxia 14 | 1 test |
Autosomal recessive spinocerebellar ataxia 15 | 4 tests |
Autosomal recessive spinocerebellar ataxia 16 | 3 tests |
Autosomal recessive spinocerebellar ataxia 17 | 4 tests |
Autosomal recessive spinocerebellar ataxia 18 | 5 tests |
Autosomal recessive spinocerebellar ataxia 2 | 5 tests |
Autosomal recessive spinocerebellar ataxia 20 | 4 tests |
Autosomal recessive spinocerebellar ataxia 7 | 9 tests |
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | 3 tests |
Autosomal systemic lupus erythematosus type 16 | 2 tests |
Avascular necrosis of femoral head, primary, 1 | 1 test |
Avascular necrosis of femoral head, primary, 2 | 1 test |
Axenfeld-Rieger syndrome type 1 | 6 tests |
Axenfeld-Rieger syndrome type 3 | 6 tests |
Ayme-Gripp syndrome | 3 tests |
Azorean disease | 3 tests |
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 1 test |
B4GALT1-congenital disorder of glycosylation | 5 tests |
BAP1-related tumor predisposition syndrome | 4 tests |
BDV syndrome | 1 test |
BENTA disease | 4 tests |
BLOOD GROUP, EMM SYSTEM | 1 test |
BLOOD GROUP--DIEGO SYSTEM | 1 test |
BLOOD GROUP--FROESE | 1 test |
BLOOD GROUP--LUTHERAN INHIBITOR | 1 test |
BLOOD GROUP--SWANN SYSTEM | 1 test |
BLOOD GROUP--WALDNER TYPE | 1 test |
BLOOD GROUP--WRIGHT ANTIGEN | 1 test |
BNAR syndrome | 5 tests |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | 1 test |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 2 tests |
Bailey-Bloch congenital myopathy | 3 tests |
Bamforth-Lazarus syndrome | 2 tests |
Band heterotopia of brain | 3 tests |
Baraitser-Winter syndrome 1 | 5 tests |
Baraitser-winter syndrome 2 | 4 tests |
Barber-Say syndrome | 1 test |
Bardet-Biedl syndrome 1 | 13 tests |
Bardet-Biedl syndrome 10 | 11 tests |
Bardet-Biedl syndrome 11 | 11 tests |
Bardet-Biedl syndrome 12 | 11 tests |
Bardet-Biedl syndrome 13 | 9 tests |
Bardet-Biedl syndrome 14 | 6 tests |
Bardet-Biedl syndrome 15 | 5 tests |
Bardet-Biedl syndrome 16 | 1 test |
Bardet-Biedl syndrome 17 | 8 tests |
Bardet-Biedl syndrome 19 | 8 tests |
Bardet-Biedl syndrome 2 | 3 tests |
Bardet-Biedl syndrome 20 | 1 test |
Bardet-Biedl syndrome 3 | 11 tests |
Bardet-Biedl syndrome 4 | 12 tests |
Bardet-Biedl syndrome 5 | 10 tests |
Bardet-Biedl syndrome 6 | 13 tests |
Bardet-Biedl syndrome 7 | 11 tests |
Bardet-Biedl syndrome 8 | 1 test |
Bardet-Biedl syndrome 9 | 11 tests |
Bardet-biedl syndrome 21 | 6 tests |
Barrett esophagus | 3 tests |
Bartsocas-Papas syndrome 1 | 1 test |
Bartter disease type 1 | 4 tests |
Bartter disease type 2 | 4 tests |
Bartter disease type 4A | 7 tests |
Bartter disease type 4B | 4 tests |
Basal cell carcinoma, susceptibility to, 1 | 3 tests |
Basal cell carcinoma, susceptibility to, 7 | 8 tests |
Basal ganglia calcification, idiopathic, 4 | 1 test |
Basal ganglia calcification, idiopathic, 5 | 2 tests |
Basal ganglia calcification, idiopathic, 6 | 3 tests |
Basal ganglia calcification, idiopathic, 7, autosomal recessive | 3 tests |
Basal ganglia calcification, idiopathic, 8, autosomal recessive | 2 tests |
Basan syndrome | 1 test |
Beare-Stevenson cutis gyrata syndrome | 1 test |
Becker muscular dystrophy | 7 tests |
Beckwith-Wiedemann syndrome | 9 tests |
Benign concentric annular macular dystrophy | 2 tests |
Benign familial hematuria | 6 tests |
Benign hereditary chorea | 1 test |
Benign recurrent intrahepatic cholestasis type 1 | 4 tests |
Benign recurrent intrahepatic cholestasis type 2 | 1 test |
Bent bone dysplasia syndrome 1 | 1 test |
Bernard Soulier syndrome | 5 tests |
Bernard-Soulier syndrome, type A2, autosomal dominant | 1 test |
Beta-D-mannosidosis | 12 tests |
Beta-hydroxyisobutyryl-CoA deacylase deficiency | 8 tests |
Beta-thalassemia HBB/LCRB | 2 tests |
Beta-thalassemia-X-linked thrombocytopenia syndrome | 1 test |
Bethlem myopathy 1A | 7 tests |
Bethlem myopathy 2 | 5 tests |
Bietti crystalline corneoretinal dystrophy | 2 tests |
Bifunctional peroxisomal enzyme deficiency | 9 tests |
Bilateral frontoparietal polymicrogyria | 7 tests |
Bilateral parasagittal parieto-occipital polymicrogyria | 7 tests |
Bile acid conjugation defect 1 | 2 tests |
Bilirubin, serum level of, quantitative trait locus 1 | 7 tests |
Biotin-responsive basal ganglia disease | 9 tests |
Biotinidase deficiency | 10 tests |
Birk-Barel syndrome | 3 tests |
Birt-Hogg-Dube syndrome | 4 tests |
Blau syndrome | 1 test |
Bleeding disorder, platelet-type, 13, susceptibility to | 1 test |
Bleeding disorder, platelet-type, 21 | 3 tests |
Bleeding disorder, platelet-type, 24 | 4 tests |
Blepharocheilodontic syndrome 1 | 1 test |
Blepharocheilodontic syndrome 2 | 2 tests |
Blepharophimosis - intellectual disability syndrome, MKB type | 2 tests |
Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 test |
Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 test |
Blepharophimosis-impaired intellectual development syndrome | 4 tests |
Blood group, Gerbich system | 2 tests |
Blood group, I system | 2 tests |
Bloom syndrome | 7 tests |
Body mass index quantitative trait locus 12 | 5 tests |
Body mass index quantitative trait locus 18 | 1 test |
Body mass index quantitative trait locus 4 | 2 tests |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 3 tests |
Bohring-Opitz syndrome | 1 test |
Bone marrow failure syndrome 3 | 3 tests |
Bone marrow failure syndrome 4 | 2 tests |
Bone marrow failure syndrome 5 | 8 tests |
Bone marrow failure syndrome 6 | 1 test |
Bone mineral density quantitative trait locus 18 | 2 tests |
Bone osteosarcoma | 11 tests |
Boomerang dysplasia | 1 test |
Borjeson-Forssman-Lehmann syndrome | 9 tests |
Bosch-Boonstra-Schaaf optic atrophy syndrome | 6 tests |
Bothnia retinal dystrophy | 6 tests |
Brachydactyly type A1A | 1 test |
Brachydactyly type A1C | 1 test |
Brachydactyly type A1D | 5 tests |
Brachydactyly type B1 | 1 test |
Brachydactyly type B2 | 1 test |
Brachydactyly type C | 1 test |
Brachydactyly type E1 | 3 tests |
Brachydactyly type E2 | 4 tests |
Brachyolmia-amelogenesis imperfecta syndrome | 2 tests |
Brachyrachia (short spine dysplasia) | 1 test |
Bradyopsia | 3 tests |
Brain abnormalities, neurodegeneration, and dysosteosclerosis | 2 tests |
Brain small vessel disease 1 with or without ocular anomalies | 14 tests |
Brain small vessel disease 3 | 4 tests |
Brain-lung-thyroid syndrome | 3 tests |
Branched-chain keto acid dehydrogenase kinase deficiency | 5 tests |
Branchiogenic deafness syndrome | 1 test |
Branchiooculofacial syndrome | 6 tests |
Branchiootic syndrome 1 | 6 tests |
Branchiootic syndrome 3 | 4 tests |
Branchiootorenal syndrome 1 | 1 test |
Branchiootorenal syndrome 2 | 4 tests |
Breast-ovarian cancer, familial, susceptibility to, 1 | 12 tests |
Breast-ovarian cancer, familial, susceptibility to, 2 | 12 tests |
Breast-ovarian cancer, familial, susceptibility to, 3 | 7 tests |
Breast-ovarian cancer, familial, susceptibility to, 4 | 4 tests |
Breasts and/or nipples, aplasia or hypoplasia of, 2 | 1 test |
Brittle cornea syndrome 1 | 3 tests |
Brittle cornea syndrome 2 | 3 tests |
Brody myopathy | 3 tests |
Bronchiectasis with or without elevated sweat chloride 1 | 3 tests |
Bronchiectasis with or without elevated sweat chloride 2 | 4 tests |
Bronchiectasis with or without elevated sweat chloride 3 | 4 tests |
Brooke-Spiegler syndrome | 3 tests |
Brown-Vialetto-van Laere syndrome 1 | 8 tests |
Brown-Vialetto-van Laere syndrome 2 | 8 tests |
Bruck syndrome 1 | 8 tests |
Bruck syndrome 2 | 7 tests |
Brugada syndrome | 1 test |
Brugada syndrome 1 | 1 test |
Brugada syndrome 2 | 2 tests |
Brugada syndrome 3 | 1 test |
Brugada syndrome 4 | 5 tests |
Brugada syndrome 6 | 4 tests |
Brugada syndrome 7 | 2 tests |
Brugada syndrome 8 | 1 test |
Brugada syndrome 9 | 1 test |
Brunner syndrome | 4 tests |
Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 1 test |
Budd-Chiari syndrome | 3 tests |
Burkitt lymphoma | 1 test |
C syndrome | 3 tests |
C1 inhibitor deficiency | 2 tests |
C1Q deficiency | 4 tests |
C3 glomerulonephritis | 1 test |
CBL-related disorder | 3 tests |
CCDC115-CDG | 3 tests |
CEDNIK syndrome | 8 tests |
CFHR5 deficiency | 2 tests |
CHARGE syndrome | 5 tests |
CHIME syndrome | 3 tests |
CK syndrome | 1 test |
CLAPO syndrome | 1 test |
CLOVES syndrome | 1 test |
COACH syndrome 1 | 1 test |
COACH syndrome 2 | 11 tests |
CODAS syndrome | 3 tests |
COG1 congenital disorder of glycosylation | 6 tests |
COG4-congenital disorder of glycosylation | 1 test |
COG5-congenital disorder of glycosylation | 6 tests |
COG6-congenital disorder of glycosylation | 6 tests |
COG7 congenital disorder of glycosylation | 6 tests |
COG8-congenital disorder of glycosylation | 5 tests |
COPD, severe early onset | 3 tests |
CYP2C19-related poor drug metabolism | 1 test |
Café-au-lait macules with pulmonary stenosis | 2 tests |
Calvarial doughnut lesions-bone fragility syndrome | 2 tests |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 1 test |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 test |
Camptomelic dysplasia | 7 tests |
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | 3 tests |
Candidiasis, familial, 9 | 2 tests |
Capillary infantile hemangioma | 2 tests |
Capillary malformation-arteriovenous malformation 1 | 4 tests |
Capillary malformation-arteriovenous malformation 2 | 1 test |
Carcinoma of pancreas | 8 tests |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 5 tests |
Cardiac arrhythmia, ankyrin-B-related | 4 tests |
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 5 tests |
Cardiac valvular dysplasia, X-linked | 1 test |
Cardiac, facial, and digital anomalies with developmental delay | 3 tests |
Cardiac-urogenital syndrome | 2 tests |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 10 tests |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 9 tests |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 4 tests |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 5 tests |
Cardiofaciocutaneous syndrome 2 | 3 tests |
Cardiofaciocutaneous syndrome 3 | 2 tests |
Cardiofaciocutaneous syndrome 4 | 7 tests |
Cardiomyopathy, dilated, 2E | 1 test |
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 4 tests |
Cardiomyopathy, familial hypertrophic 27 | 1 test |
Cardiomyopathy, familial restrictive, 1 | 1 test |
Cardiomyopathy, familial restrictive, 3 | 1 test |
Cardiomyopathy-hypotonia-lactic acidosis syndrome | 7 tests |
Cardiospondylocarpofacial syndrome | 1 test |
Carney complex - trismus - pseudocamptodactyly syndrome | 4 tests |
Carney complex, type 1 | 2 tests |
Carney-Stratakis syndrome | 5 tests |
Carnitine acylcarnitine translocase deficiency | 7 tests |
Carnitine palmitoyl transferase 1A deficiency | 8 tests |
Carnitine palmitoyl transferase II deficiency, myopathic form | 1 test |
Carnitine palmitoyl transferase II deficiency, neonatal form | 10 tests |
Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 test |
Carotid intimal medial thickness 1 | 1 test |
Carpal tunnel syndrome 1 | 1 test |
Carpal tunnel syndrome 2 | 1 test |
Cataract 1 multiple types | 2 tests |
Cataract 10 multiple types | 2 tests |
Cataract 11 multiple types | 2 tests |
Cataract 12 multiple types | 2 tests |
Cataract 13 with adult I phenotype | 1 test |
Cataract 14 multiple types | 2 tests |
Cataract 15 multiple types | 2 tests |
Cataract 16 multiple types | 1 test |
Cataract 17 multiple types | 2 tests |
Cataract 18 | 2 tests |
Cataract 19 multiple types | 3 tests |
Cataract 2, multiple types | 2 tests |
Cataract 20 multiple types | 2 tests |
Cataract 21 multiple types | 1 test |
Cataract 22 multiple types | 2 tests |
Cataract 23 | 2 tests |
Cataract 3 multiple types | 1 test |
Cataract 30 | 2 tests |
Cataract 31 multiple types | 2 tests |
Cataract 33 | 1 test |
Cataract 36 | 2 tests |
Cataract 38 | 6 tests |
Cataract 39 multiple types | 2 tests |
Cataract 4 multiple types | 2 tests |
Cataract 40 | 1 test |
Cataract 41 | 1 test |
Cataract 44 | 1 test |
Cataract 46 juvenile-onset | 1 test |
Cataract 5 multiple types | 2 tests |
Cataract 6 multiple types | 2 tests |
Cataract 9 multiple types | 2 tests |
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 7 tests |
Catecholaminergic polymorphic ventricular tachycardia 1 | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 2 | 2 tests |
Catecholaminergic polymorphic ventricular tachycardia 3 | 2 tests |
Catecholaminergic polymorphic ventricular tachycardia 4 | 2 tests |
Catecholaminergic polymorphic ventricular tachycardia 5 | 2 tests |
Catel-Manzke syndrome | 2 tests |
Cayman type cerebellar ataxia | 4 tests |
Celiac disease, susceptibility to, 3 | 1 test |
Celiac disease, susceptibility to, 4 | 2 tests |
Cenani-Lenz syndactyly syndrome | 1 test |
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 14 tests |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 6 tests |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 6 tests |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 5 tests |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 5 tests |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 7 tests |
Cerebellar ataxia-hypogonadism syndrome | 8 tests |
Cerebellar atrophy with seizures and variable developmental delay | 2 tests |
Cerebellar atrophy, developmental delay, and seizures | 4 tests |
Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 6 tests |
Cerebral amyloid angiopathy, APP-related | 6 tests |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 tests |
Cerebral cavernous malformation | 4 tests |
Cerebral cavernous malformation 2 | 3 tests |
Cerebral cavernous malformation 3 | 5 tests |
Cerebral cavernous malformation 4 | 1 test |
Cerebral folate transport deficiency | 5 tests |
Cerebral palsy, spastic quadriplegic, 2 | 3 tests |
Cerebrooculofacioskeletal syndrome 1 | 7 tests |
Cerebrooculofacioskeletal syndrome 2 | 1 test |
Cerebrooculofacioskeletal syndrome 3 | 1 test |
Cerebrooculofacioskeletal syndrome 4 | 4 tests |
Cerebroretinal microangiopathy with calcifications and cysts 1 | 10 tests |
Cerebroretinal microangiopathy with calcifications and cysts 2 | 2 tests |
Cernunnos-XLF deficiency | 7 tests |
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 9 tests |
Ceroid lipofuscinosis, neuronal, 6A | 9 tests |
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 7 tests |
Cervical cancer | 2 tests |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 test |
Char syndrome | 3 tests |
Charcot-Marie-Tooth disease X-linked dominant 1 | 8 tests |
Charcot-Marie-Tooth disease X-linked dominant 6 | 4 tests |
Charcot-Marie-Tooth disease X-linked recessive 4 | 1 test |
Charcot-Marie-Tooth disease axonal type 2C | 1 test |
Charcot-Marie-Tooth disease axonal type 2F | 3 tests |
Charcot-Marie-Tooth disease axonal type 2K | 1 test |
Charcot-Marie-Tooth disease axonal type 2L | 3 tests |
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 | 3 tests |
Charcot-Marie-Tooth disease axonal type 2Q | 4 tests |
Charcot-Marie-Tooth disease axonal type 2S | 4 tests |
Charcot-Marie-Tooth disease axonal type 2U | 1 test |
Charcot-Marie-Tooth disease axonal type 2V | 1 test |
Charcot-Marie-Tooth disease axonal type 2X | 10 tests |
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 | 1 test |
Charcot-Marie-Tooth disease dominant intermediate E | 6 tests |
Charcot-Marie-Tooth disease dominant intermediate F | 3 tests |
Charcot-Marie-Tooth disease recessive intermediate A | 5 tests |
Charcot-Marie-Tooth disease recessive intermediate B | 1 test |
Charcot-Marie-Tooth disease recessive intermediate C | 1 test |
Charcot-Marie-Tooth disease recessive intermediate D | 6 tests |
Charcot-Marie-Tooth disease type 1B | 1 test |
Charcot-Marie-Tooth disease type 1C | 4 tests |
Charcot-Marie-Tooth disease type 1D | 5 tests |
Charcot-Marie-Tooth disease type 1E | 2 tests |
Charcot-Marie-Tooth disease type 2A1 | 1 test |
Charcot-Marie-Tooth disease type 2A2 | 9 tests |
Charcot-Marie-Tooth disease type 2B | 3 tests |
Charcot-Marie-Tooth disease type 2B1 | 1 test |
Charcot-Marie-Tooth disease type 2B2 | 7 tests |
Charcot-Marie-Tooth disease type 2D | 1 test |
Charcot-Marie-Tooth disease type 2I | 1 test |
Charcot-Marie-Tooth disease type 2J | 1 test |
Charcot-Marie-Tooth disease type 2R | 3 tests |
Charcot-Marie-Tooth disease type 2Y | 1 test |
Charcot-Marie-Tooth disease type 4A | 1 test |
Charcot-Marie-Tooth disease type 4B1 | 3 tests |
Charcot-Marie-Tooth disease type 4B2 | 4 tests |
Charcot-Marie-Tooth disease type 4B3 | 4 tests |
Charcot-Marie-Tooth disease type 4C | 3 tests |
Charcot-Marie-Tooth disease type 4D | 3 tests |
Charcot-Marie-Tooth disease type 4E | 1 test |
Charcot-Marie-Tooth disease type 4F | 3 tests |
Charcot-Marie-Tooth disease type 4G | 2 tests |
Charcot-Marie-Tooth disease type 4H | 3 tests |
Charcot-Marie-Tooth disease type 4J | 1 test |
Charcot-Marie-Tooth disease type 4K | 3 tests |
Charcot-Marie-Tooth disease, axonal, Type 2HH | 1 test |
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 test |
Charcot-Marie-Tooth disease, axonal, type 2EE | 1 test |
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 1 test |
Charcot-Marie-Tooth disease, demyelinating, IIA 1H | 1 test |
Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 10 tests |
Charcot-Marie-Tooth disease, type IA | 7 tests |
Charcot-marie-tooth disease, axonal, type 2DD | 3 tests |
Charlevoix-Saguenay spastic ataxia | 7 tests |
Chilblain lupus 1 | 1 test |
Chilblain lupus 2 | 1 test |
Child syndrome | 8 tests |
Childhood apraxia of speech | 3 tests |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 8 tests |
Childhood hypophosphatasia | 1 test |
Childhood onset GLUT1 deficiency syndrome 2 | 2 tests |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 4 tests |
Chitayat syndrome | 1 test |
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 1 test |
Cholestanol storage disease | 13 tests |
Cholestasis, intrahepatic, of pregnancy, 1 | 1 test |
Cholestasis, intrahepatic, of pregnancy, 3 | 5 tests |
Cholestasis, progressive familial intrahepatic, 12 | 1 test |
Cholestasis, progressive familial intrahepatic, 4 | 5 tests |
Cholestasis, progressive familial intrahepatic, 5 | 3 tests |
Cholestasis-pigmentary retinopathy-cleft palate syndrome | 9 tests |
Chondrocalcinosis 2 | 2 tests |
Chondrodysplasia Blomstrand type | 1 test |
Chondrodysplasia punctata 2 X-linked dominant | 6 tests |
Chondrosarcoma | 2 tests |
Chorea-acanthocytosis | 4 tests |
Choroid plexus papilloma | 8 tests |
Choroidal dystrophy, central areolar 2 | 1 test |
Choroidal dystrophy, central areolar, 1 | 5 tests |
Choroideremia | 4 tests |
Christianson syndrome | 9 tests |
Chromosome 15q13.3 microdeletion syndrome | 2 tests |
Chromosome 1p32-p31 deletion syndrome | 3 tests |
Chromosome 2p16.3 deletion syndrome | 1 test |
Chromosome 2q32-q33 deletion syndrome | 5 tests |
Chronic infantile neurological, cutaneous and articular syndrome | 1 test |
Chronic myelogenous leukemia, BCR-ABL1 positive | 3 tests |
Chronic myelomonocytic leukemia | 1 test |
Chudley-McCullough syndrome | 3 tests |
Chuvash polycythemia | 6 tests |
Chédiak-Higashi syndrome | 13 tests |
Ciliary dyskinesia, primary, 36, X-linked | 3 tests |
Ciliary dyskinesia, primary, 37 | 3 tests |
Ciliary dyskinesia, primary, 38 | 4 tests |
Ciliary dyskinesia, primary, 39 | 3 tests |
Ciliary dyskinesia, primary, 40 | 4 tests |
Ciliary dyskinesia, primary, 42 | 1 test |
Ciliary dyskinesia, primary, 43 | 2 tests |
Ciliary dyskinesia, primary, 44 | 5 tests |
Ciliary dyskinesia, primary, 45 | 3 tests |
Cirrhosis, familial | 3 tests |
Citrullinemia type I | 6 tests |
Citrullinemia, type II, adult-onset | 10 tests |
Clark-Baraitser syndrome | 3 tests |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 6 tests |
Classic dopamine transporter deficiency syndrome | 5 tests |
Classic homocystinuria | 10 tests |
Cleft lip/palate-ectodermal dysplasia syndrome | 5 tests |
Cleft palate with or without ankyloglossia, X-linked | 2 tests |
Cleidocranial dysostosis | 3 tests |
Clubfoot | 2 tests |
Cobalamin C disease | 10 tests |
Cobblestone lissencephaly without muscular or ocular involvement | 6 tests |
Cockayne syndrome type 1 | 1 test |
Cockayne syndrome type 2 | 1 test |
Coenzyme Q10 deficiency, primary, 1 | 4 tests |
Coenzyme Q10 deficiency, primary, 3 | 9 tests |
Coffin-Lowry syndrome | 1 test |
Coffin-Siris syndrome 1 | 3 tests |
Coffin-Siris syndrome 5 | 1 test |
Coffin-Siris syndrome 6 | 3 tests |
Coffin-Siris syndrome 7 | 4 tests |
Coffin-Siris syndrome 8 | 4 tests |
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 5 tests |
Cognitive impairment with or without cerebellar ataxia | 1 test |
Cohen syndrome | 8 tests |
Colchicine resistance | 1 test |
Cold-induced sweating syndrome 1 | 2 tests |
Cole-Carpenter syndrome 1 | 5 tests |
Cole-Carpenter syndrome 2 | 3 tests |
Coloboma of optic nerve | 1 test |
Coloboma, ocular, autosomal dominant | 1 test |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 7 tests |
Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 3 tests |
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 3 tests |
Colorectal cancer | 23 tests |
Colorectal cancer, hereditary nonpolyposis, type 2 | 9 tests |
Colorectal cancer, hereditary nonpolyposis, type 6 | 4 tests |
Colorectal cancer, hereditary nonpolyposis, type 7 | 4 tests |
Colorectal cancer, susceptibility to, 1 | 3 tests |
Colorectal cancer, susceptibility to, 10 | 4 tests |
Colorectal cancer, susceptibility to, 12 | 5 tests |
Colton Blood group system | 2 tests |
Combined PSAP deficiency | 1 test |
Combined deficiency of sialidase AND beta galactosidase | 6 tests |
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 1 test |
Combined immunodeficiency due to CD3gamma deficiency | 3 tests |
Combined immunodeficiency due to DOCK8 deficiency | 7 tests |
Combined immunodeficiency due to GINS1 deficiency | 2 tests |
Combined immunodeficiency due to LRBA deficiency | 6 tests |
Combined immunodeficiency due to MALT1 deficiency | 3 tests |
Combined immunodeficiency due to STIM1 deficiency | 7 tests |
Combined immunodeficiency due to STK4 deficiency | 2 tests |
Combined immunodeficiency due to ZAP70 deficiency | 3 tests |
Combined immunodeficiency due to moesin deficiency | 1 test |
Combined immunodeficiency due to partial RAG1 deficiency | 1 test |
Combined immunodeficiency with faciooculoskeletal anomalies | 1 test |
Combined immunodeficiency with skin granulomas | 5 tests |
Combined immunodeficiency, X-linked | 6 tests |
Combined malonic and methylmalonic acidemia | 6 tests |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 test |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 test |
Combined oxidative phosphorylation defect type 11 | 8 tests |
Combined oxidative phosphorylation defect type 13 | 9 tests |
Combined oxidative phosphorylation defect type 14 | 1 test |
Combined oxidative phosphorylation defect type 15 | 1 test |
Combined oxidative phosphorylation defect type 17 | 7 tests |
Combined oxidative phosphorylation defect type 2 | 5 tests |
Combined oxidative phosphorylation defect type 20 | 6 tests |
Combined oxidative phosphorylation defect type 21 | 4 tests |
Combined oxidative phosphorylation defect type 23 | 7 tests |
Combined oxidative phosphorylation defect type 24 | 9 tests |
Combined oxidative phosphorylation defect type 25 | 7 tests |
Combined oxidative phosphorylation defect type 26 | 2 tests |
Combined oxidative phosphorylation defect type 27 | 5 tests |
Combined oxidative phosphorylation defect type 30 | 5 tests |
Combined oxidative phosphorylation defect type 4 | 7 tests |
Combined oxidative phosphorylation defect type 7 | 6 tests |
Combined oxidative phosphorylation defect type 8 | 1 test |
Combined oxidative phosphorylation defect type 9 | 6 tests |
Combined oxidative phosphorylation deficiency 22 | 3 tests |
Combined oxidative phosphorylation deficiency 28 | 6 tests |
Combined oxidative phosphorylation deficiency 32 | 2 tests |
Combined oxidative phosphorylation deficiency 33 | 2 tests |
Combined oxidative phosphorylation deficiency 35 | 5 tests |
Combined oxidative phosphorylation deficiency 36 | 2 tests |
Combined oxidative phosphorylation deficiency 39 | 7 tests |
Combined oxidative phosphorylation deficiency 44 | 8 tests |
Combined pituitary hormone deficiencies, genetic form | 1 test |
Complement component 2 deficiency | 1 test |
Complement component 3 deficiency | 1 test |
Complement component 5 deficiency | 1 test |
Complement component 6 deficiency | 2 tests |
Complement component 7 deficiency | 2 tests |
Complement component 9 deficiency | 2 tests |
Complement component C1s deficiency | 1 test |
Complement factor b deficiency | 1 test |
Complex cortical dysplasia with other brain malformations 2 | 4 tests |
Complex cortical dysplasia with other brain malformations 3 | 3 tests |
Complex cortical dysplasia with other brain malformations 4 | 3 tests |
Complex cortical dysplasia with other brain malformations 5 | 4 tests |
Complex cortical dysplasia with other brain malformations 6 | 2 tests |
Complex cortical dysplasia with other brain malformations 7 | 4 tests |
Complex lethal osteochondrodysplasia | 1 test |
Compton-North congenital myopathy | 2 tests |
Cone dystrophy 3 | 2 tests |
Cone dystrophy 4 | 2 tests |
Cone dystrophy with supernormal rod response | 2 tests |
Cone monochromatism | 1 test |
Cone-rod dystrophy 10 | 2 tests |
Cone-rod dystrophy 11 | 1 test |
Cone-rod dystrophy 12 | 1 test |
Cone-rod dystrophy 13 | 1 test |
Cone-rod dystrophy 15 | 2 tests |
Cone-rod dystrophy 16 | 1 test |
Cone-rod dystrophy 18 | 2 tests |
Cone-rod dystrophy 19 | 2 tests |
Cone-rod dystrophy 2 | 5 tests |
Cone-rod dystrophy 20 | 2 tests |
Cone-rod dystrophy 21 | 2 tests |
Cone-rod dystrophy 3 | 1 test |
Cone-rod dystrophy 5 | 3 tests |
Cone-rod dystrophy 6 | 1 test |
Cone-rod dystrophy 7 | 4 tests |
Cone-rod dystrophy 9 | 2 tests |
Cone-rod dystrophy and hearing loss 1 | 1 test |
Cone-rod synaptic disorder, congenital nonprogressive | 5 tests |
Congenital absence of salivary gland | 1 test |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 test |
Congenital adrenal hypoplasia, X-linked | 1 test |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 5 tests |
Congenital afibrinogenemia | 6 tests |
Congenital amegakaryocytic thrombocytopenia | 1 test |
Congenital anomalies of kidney and urinary tract 1 | 7 tests |
Congenital anomalies of kidney and urinary tract 2 | 3 tests |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 4 tests |
Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 tests |
Congenital bile acid synthesis defect 1 | 5 tests |
Congenital bile acid synthesis defect 2 | 4 tests |
Congenital bile acid synthesis defect 3 | 9 tests |
Congenital bile acid synthesis defect 5 | 5 tests |
Congenital brain dysgenesis due to glutamine synthetase deficiency | 4 tests |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 3 tests |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 6 tests |
Congenital cataracts-facial dysmorphism-neuropathy syndrome | 3 tests |
Congenital contractural arachnodactyly | 1 test |
Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 test |
Congenital diarrhea 5 with tufting enteropathy | 7 tests |
Congenital diarrhea 6 | 2 tests |
Congenital disorder of deglycosylation 1 | 7 tests |
Congenital disorder of glycosylation type 1E | 6 tests |
Congenital disorder of glycosylation type Ir | 4 tests |
Congenital disorder of glycosylation with defective fucosylation 1 | 3 tests |
Congenital disorder of glycosylation, type IAA | 2 tests |
Congenital disorder of glycosylation, type ICC | 1 test |
Congenital disorder of glycosylation, type IIr | 4 tests |
Congenital disorder of glycosylation, type IIw | 1 test |
Congenital disorder of glycosylation, type Iw, autosomal dominant | 1 test |
Congenital dyserythropoietic anemia type 4 | 1 test |
Congenital dyserythropoietic anemia type type 1B | 1 test |
Congenital dyserythropoietic anemia, type II | 1 test |
Congenital factor VII deficiency | 3 tests |
Congenital fibrosis of extraocular muscles type 1 | 2 tests |
Congenital generalized lipodystrophy type 1 | 3 tests |
Congenital generalized lipodystrophy type 2 | 1 test |
Congenital generalized lipodystrophy type 3 | 7 tests |
Congenital generalized lipodystrophy type 4 | 5 tests |
Congenital glucose-galactose malabsorption | 2 tests |
Congenital heart defects and skeletal malformations syndrome | 1 test |
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 test |
Congenital heart defects, multiple types, 2 | 2 tests |
Congenital heart defects, multiple types, 4 | 3 tests |
Congenital heart defects, multiple types, 5 | 2 tests |
Congenital heart defects, multiple types, 6 | 2 tests |
Congenital heart defects, multiple types, 8, with or without heterotaxy | 2 tests |
Congenital hereditary endothelial dystrophy of cornea | 1 test |
Congenital hyperammonemia, type I | 1 test |
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 5 tests |
Congenital hypotrichosis with juvenile macular dystrophy | 1 test |
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 test |
Congenital isolated adrenocorticotropic hormone deficiency | 2 tests |
Congenital lactase deficiency | 4 tests |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 9 tests |
Congenital lipoid adrenal hyperplasia due to STAR deficency | 7 tests |
Congenital macrodactylia | 1 test |
Congenital malabsorptive diarrhea 4 | 6 tests |
Congenital mesoblastic nephroma | 1 test |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 4 tests |
Congenital microvillous atrophy | 2 tests |
Congenital multicore myopathy with external ophthalmoplegia | 5 tests |
Congenital muscular dystrophy due to LMNA mutation | 1 test |
Congenital muscular dystrophy due to integrin alpha-7 deficiency | 5 tests |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | 7 tests |
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | 4 tests |
Congenital muscular hypertrophy-cerebral syndrome | 6 tests |
Congenital myasthenic syndrome 10 | 6 tests |
Congenital myasthenic syndrome 11 | 7 tests |
Congenital myasthenic syndrome 12 | 8 tests |
Congenital myasthenic syndrome 13 | 1 test |
Congenital myasthenic syndrome 14 | 6 tests |
Congenital myasthenic syndrome 15 | 1 test |
Congenital myasthenic syndrome 16 | 1 test |
Congenital myasthenic syndrome 17 | 1 test |
Congenital myasthenic syndrome 18 | 3 tests |
Congenital myasthenic syndrome 19 | 3 tests |
Congenital myasthenic syndrome 1A | 1 test |
Congenital myasthenic syndrome 20 | 4 tests |
Congenital myasthenic syndrome 21 | 4 tests |
Congenital myasthenic syndrome 2A | 1 test |
Congenital myasthenic syndrome 2C | 6 tests |
Congenital myasthenic syndrome 3B | 1 test |
Congenital myasthenic syndrome 3C | 5 tests |
Congenital myasthenic syndrome 4A | 1 test |
Congenital myasthenic syndrome 4B | 7 tests |
Congenital myasthenic syndrome 4C | 1 test |
Congenital myasthenic syndrome 5 | 6 tests |
Congenital myasthenic syndrome 7 | 4 tests |
Congenital myasthenic syndrome 8 | 4 tests |
Congenital myasthenic syndrome 9 | 1 test |
Congenital myopathy 23 | 5 tests |
Congenital myopathy 4B, autosomal recessive | 4 tests |
Congenital myopathy with fiber type disproportion | 6 tests |
Congenital myopathy with internal nuclei and atypical cores | 4 tests |
Congenital myopathy with reduced type 2 muscle fibers | 3 tests |
Congenital myotonia, autosomal dominant form | 1 test |
Congenital myotonia, autosomal recessive form | 4 tests |
Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 3 tests |
Congenital nongoitrous hypothyroidism 6 | 5 tests |
Congenital nonprogressive myopathy with Moebius and Robin sequences | 3 tests |
Congenital plasminogen activator inhibitor type 1 deficiency | 2 tests |
Congenital prothrombin deficiency | 1 test |
Congenital reticular ichthyosiform erythroderma | 1 test |
Congenital secretory diarrhea, chloride type | 4 tests |
Congenital secretory sodium diarrhea 3 | 4 tests |
Congenital sensory neuropathy with selective loss of small myelinated fibers | 3 tests |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 8 tests |
Congenital stationary night blindness 1C | 3 tests |
Congenital stationary night blindness 2A | 1 test |
Congenital stationary night blindness autosomal dominant 1 | 7 tests |
Congenital stationary night blindness autosomal dominant 2 | 2 tests |
Congenital vertical talus | 3 tests |
Conotruncal heart malformations | 9 tests |
Constitutional megaloblastic anemia with severe neurologic disease | 2 tests |
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 test |
Contractures, pterygia, and variable skeletal fusions syndrome 1B | 1 test |
Corneal dystrophy, Fuchs endothelial, 3 | 2 tests |
Corneal dystrophy, Fuchs endothelial, 4 | 1 test |
Corneal dystrophy-perceptive deafness syndrome | 2 tests |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 1 test |
Cornelia de Lange syndrome 1 | 8 tests |
Cornelia de Lange syndrome 3 | 6 tests |
Cornelia de Lange syndrome 4 | 4 tests |
Cornelia de Lange syndrome 5 | 4 tests |
Coronary heart disease, susceptibility to, 1 | 1 test |
Coronary heart disease, susceptibility to, 6 | 1 test |
Coronary heart disease, susceptibility to, 7 | 1 test |
Corpus callosum agenesis-abnormal genitalia syndrome | 7 tests |
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | 3 tests |
Cortical dysplasia, complex, with other brain malformations 9 | 4 tests |
Cortical dysplasia-focal epilepsy syndrome | 1 test |
Corticosterone 18-monooxygenase deficiency | 6 tests |
Corticosterone methyloxidase type 2 deficiency | 1 test |
Cortisone reductase deficiency 1 | 2 tests |
Cortisone reductase deficiency 2 | 4 tests |
Costello syndrome | 13 tests |
Cowden syndrome 1 | 7 tests |
Cowden syndrome 5 | 3 tests |
Cowden syndrome 6 | 3 tests |
Cowden syndrome 7 | 4 tests |
Craniodiaphyseal dysplasia, autosomal dominant | 1 test |
Cranioectodermal dysplasia 1 | 3 tests |
Cranioectodermal dysplasia 2 | 1 test |
Cranioectodermal dysplasia 3 | 1 test |
Cranioectodermal dysplasia 4 | 1 test |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 5 tests |
Craniofacial dysplasia - osteopenia syndrome | 2 tests |
Craniofacial-deafness-hand syndrome | 1 test |
Craniofrontonasal syndrome | 3 tests |
Craniometaphyseal dysplasia, autosomal dominant | 6 tests |
Craniosynostosis 2 | 2 tests |
Craniosynostosis 4 | 1 test |
Craniosynostosis 5, susceptibility to | 1 test |
Craniosynostosis 6 | 4 tests |
Craniosynostosis and dental anomalies | 2 tests |
Creatine transporter deficiency | 7 tests |
Crigler-Najjar syndrome type 1 | 1 test |
Crigler-Najjar syndrome, type II | 1 test |
Crouzon syndrome | 1 test |
Crouzon syndrome-acanthosis nigricans syndrome | 1 test |
Cryohydrocytosis | 1 test |
Cryptorchidism | 1 test |
Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 2 tests |
Curly hair, ankyloblepharon, nail dysplasia syndrome | 3 tests |
Currarino triad | 1 test |
Curry-Hall syndrome | 7 tests |
Curry-Jones syndrome | 1 test |
Cutaneous mastocytosis | 9 tests |
Cutaneous porphyria | 5 tests |
Cutis laxa with osteodystrophy | 1 test |
Cutis laxa, X-linked | 1 test |
Cutis laxa, autosomal dominant 1 | 1 test |
Cutis laxa, autosomal dominant 2 | 7 tests |
Cutis laxa, autosomal dominant 3 | 1 test |
Cutis laxa, autosomal recessive, type 1A | 1 test |
Cutis laxa, autosomal recessive, type 1B | 7 tests |
Cyclical neutropenia | 1 test |
Cystathioninuria | 2 tests |
Cystic fibrosis | 11 tests |
Cystic leukoencephalopathy without megalencephaly | 5 tests |
Cystinuria | 7 tests |
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | 2 tests |
D,L-2-hydroxyglutaric aciduria | 5 tests |
D-2-hydroxyglutaric aciduria 1 | 6 tests |
D-2-hydroxyglutaric aciduria 2 | 2 tests |
D-Glyceric aciduria | 4 tests |
DDX41-related hematologic malignancy predisposition syndrome | 1 test |
DE SANCTIS-CACCHIONE SYNDROME | 1 test |
DEGCAGS syndrome | 3 tests |
DK1-congenital disorder of glycosylation | 7 tests |
DNA ligase IV deficiency | 4 tests |
DOCK2 deficiency | 2 tests |
DOORS syndrome | 1 test |
DPAGT1-congenital disorder of glycosylation | 6 tests |
DPM3-congenital disorder of glycosylation | 1 test |
DYRK1A-related intellectual disability syndrome | 5 tests |
Danon disease | 13 tests |
DeSanto-Shinawi syndrome due to WAC point mutation | 3 tests |
Deafness dystonia syndrome | 8 tests |
Deafness with labyrinthine aplasia, microtia, and microdontia | 1 test |
Deafness, X-linked 5 | 1 test |
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
Deafness, congenital heart defects, and posterior embryotoxon | 1 test |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 6 tests |
Deafness-lymphedema-leukemia syndrome | 4 tests |
Deficiency of 2-methylbutyryl-CoA dehydrogenase | 6 tests |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 3 tests |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 9 tests |
Deficiency of acetyl-CoA acetyltransferase | 8 tests |
Deficiency of alpha-mannosidase | 7 tests |
Deficiency of aromatic-L-amino-acid decarboxylase | 6 tests |
Deficiency of beta-ureidopropionase | 4 tests |
Deficiency of butyryl-CoA dehydrogenase | 7 tests |
Deficiency of butyrylcholinesterase | 1 test |
Deficiency of cytochrome-b5 reductase | 4 tests |
Deficiency of ferroxidase | 8 tests |
Deficiency of galactokinase | 6 tests |
Deficiency of guanidinoacetate methyltransferase | 9 tests |
Deficiency of hyaluronoglucosaminidase | 4 tests |
Deficiency of hydroxymethylglutaryl-CoA lyase | 10 tests |
Deficiency of iodide peroxidase | 4 tests |
Deficiency of isobutyryl-CoA dehydrogenase | 5 tests |
Deficiency of malonyl-CoA decarboxylase | 4 tests |
Deficiency of phosphoserine phosphatase | 3 tests |
Deficiency of ribose-5-phosphate isomerase | 5 tests |
Deficiency of steroid 11-beta-monooxygenase | 9 tests |
Deficiency of steroid 17-alpha-monooxygenase | 7 tests |
Deficiency of transaldolase | 1 test |
Dehydrated hereditary stomatocytosis 2 | 2 tests |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 2 tests |
Dejerine-Sottas disease | 5 tests |
Delta-beta-thalassemia | 2 tests |
Dent disease type 1 | 1 test |
Dent disease type 2 | 11 tests |
Dentatorubral-pallidoluysian atrophy | 2 tests |
Denticles | 1 test |
Dentinogenesis imperfecta type 2 | 3 tests |
Dentinogenesis imperfecta type 3 | 1 test |
Dermatofibrosis lenticularis disseminata | 2 tests |
Desbuquois dysplasia 1 | 1 test |
Desmin-related myofibrillar myopathy | 1 test |
Desmoid disease, hereditary | 6 tests |
Desmosterolosis | 7 tests |
Developmental and epileptic encephalopathy 101 | 4 tests |
Developmental and epileptic encephalopathy 6B | 2 tests |
Developmental and epileptic encephalopathy 89 | 6 tests |
Developmental and epileptic encephalopathy 94 | 5 tests |
Developmental and epileptic encephalopathy 98 | 1 test |
Developmental and epileptic encephalopathy 99 | 1 test |
Developmental and epileptic encephalopathy, 1 | 1 test |
Developmental and epileptic encephalopathy, 11 | 1 test |
Developmental and epileptic encephalopathy, 12 | 4 tests |
Developmental and epileptic encephalopathy, 13 | 1 test |
Developmental and epileptic encephalopathy, 14 | 1 test |
Developmental and epileptic encephalopathy, 15 | 1 test |
Developmental and epileptic encephalopathy, 16 | 1 test |
Developmental and epileptic encephalopathy, 17 | 1 test |
Developmental and epileptic encephalopathy, 18 | 3 tests |
Developmental and epileptic encephalopathy, 19 | 1 test |
Developmental and epileptic encephalopathy, 2 | 5 tests |
Developmental and epileptic encephalopathy, 21 | 2 tests |
Developmental and epileptic encephalopathy, 23 | 4 tests |
Developmental and epileptic encephalopathy, 24 | 4 tests |
Developmental and epileptic encephalopathy, 25 | 3 tests |
Developmental and epileptic encephalopathy, 26 | 4 tests |
Developmental and epileptic encephalopathy, 27 | 4 tests |
Developmental and epileptic encephalopathy, 28 | 2 tests |
Developmental and epileptic encephalopathy, 29 | 1 test |
Developmental and epileptic encephalopathy, 3 | 5 tests |
Developmental and epileptic encephalopathy, 30 | 3 tests |
Developmental and epileptic encephalopathy, 31A | 3 tests |
Developmental and epileptic encephalopathy, 32 | 5 tests |
Developmental and epileptic encephalopathy, 33 | 5 tests |
Developmental and epileptic encephalopathy, 34 | 4 tests |
Developmental and epileptic encephalopathy, 35 | 1 test |
Developmental and epileptic encephalopathy, 36 | 6 tests |
Developmental and epileptic encephalopathy, 37 | 2 tests |
Developmental and epileptic encephalopathy, 38 | 3 tests |
Developmental and epileptic encephalopathy, 39 | 7 tests |
Developmental and epileptic encephalopathy, 4 | 6 tests |
Developmental and epileptic encephalopathy, 40 | 3 tests |
Developmental and epileptic encephalopathy, 41 | 3 tests |
Developmental and epileptic encephalopathy, 42 | 8 tests |
Developmental and epileptic encephalopathy, 43 | 4 tests |
Developmental and epileptic encephalopathy, 44 | 3 tests |
Developmental and epileptic encephalopathy, 45 | 3 tests |
Developmental and epileptic encephalopathy, 46 | 2 tests |
Developmental and epileptic encephalopathy, 47 | 3 tests |
Developmental and epileptic encephalopathy, 48 | 2 tests |
Developmental and epileptic encephalopathy, 49 | 3 tests |
Developmental and epileptic encephalopathy, 5 | 4 tests |
Developmental and epileptic encephalopathy, 50 | 1 test |
Developmental and epileptic encephalopathy, 51 | 3 tests |
Developmental and epileptic encephalopathy, 52 | 3 tests |
Developmental and epileptic encephalopathy, 53 | 1 test |
Developmental and epileptic encephalopathy, 54 | 4 tests |
Developmental and epileptic encephalopathy, 55 | 3 tests |
Developmental and epileptic encephalopathy, 56 | 3 tests |
Developmental and epileptic encephalopathy, 57 | 3 tests |
Developmental and epileptic encephalopathy, 58 | 1 test |
Developmental and epileptic encephalopathy, 59 | 3 tests |
Developmental and epileptic encephalopathy, 60 | 3 tests |
Developmental and epileptic encephalopathy, 61 | 3 tests |
Developmental and epileptic encephalopathy, 62 | 3 tests |
Developmental and epileptic encephalopathy, 63 | 3 tests |
Developmental and epileptic encephalopathy, 64 | 3 tests |
Developmental and epileptic encephalopathy, 65 | 3 tests |
Developmental and epileptic encephalopathy, 66 | 2 tests |
Developmental and epileptic encephalopathy, 67 | 3 tests |
Developmental and epileptic encephalopathy, 68 | 3 tests |
Developmental and epileptic encephalopathy, 69 | 4 tests |
Developmental and epileptic encephalopathy, 7 | 1 test |
Developmental and epileptic encephalopathy, 70 | 3 tests |
Developmental and epileptic encephalopathy, 72 | 2 tests |
Developmental and epileptic encephalopathy, 73 | 3 tests |
Developmental and epileptic encephalopathy, 74 | 1 test |
Developmental and epileptic encephalopathy, 75 | 6 tests |
Developmental and epileptic encephalopathy, 76 | 1 test |
Developmental and epileptic encephalopathy, 77 | 3 tests |
Developmental and epileptic encephalopathy, 78 | 3 tests |
Developmental and epileptic encephalopathy, 79 | 3 tests |
Developmental and epileptic encephalopathy, 8 | 5 tests |
Developmental and epileptic encephalopathy, 80 | 3 tests |
Developmental and epileptic encephalopathy, 81 | 1 test |
Developmental and epileptic encephalopathy, 82 | 3 tests |
Developmental and epileptic encephalopathy, 83 | 3 tests |
Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 test |
Developmental and epileptic encephalopathy, 9 | 5 tests |
Developmental delay and seizures with or without movement abnormalities | 1 test |
Developmental delay with autism spectrum disorder and gait instability | 3 tests |
Developmental delay with or without dysmorphic facies and autism | 1 test |
Developmental delay with or without intellectual impairment or behavioral abnormalities | 3 tests |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 3 tests |
Developmental delay, hypotonia, and impaired language | 1 test |
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 test |
Developmental malformations-deafness-dystonia syndrome | 1 test |
DiGeorge syndrome | 1 test |
Diabetes insipidus, nephrogenic, X-linked | 5 tests |
Diabetes insipidus, nephrogenic, autosomal | 3 tests |
Diabetes mellitus type 1 | 1 test |
Diabetes mellitus, ketosis-prone | 1 test |
Diabetes mellitus, permanent neonatal 2 | 2 tests |
Diabetes mellitus, permanent neonatal 3 | 9 tests |
Diabetes mellitus, permanent neonatal 4 | 4 tests |
Diabetes mellitus, transient neonatal, 1 | 4 tests |
Diabetes mellitus, transient neonatal, 2 | 2 tests |
Diabetes mellitus, transient neonatal, 3 | 2 tests |
Diamond-Blackfan anemia 1 | 3 tests |
Diamond-Blackfan anemia 10 | 2 tests |
Diamond-Blackfan anemia 12 | 1 test |
Diamond-Blackfan anemia 13 | 1 test |
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 2 tests |
Diamond-Blackfan anemia 3 | 2 tests |
Diamond-Blackfan anemia 5 | 4 tests |
Diamond-Blackfan anemia 6 | 2 tests |
Diamond-Blackfan anemia 7 | 2 tests |
Diamond-Blackfan anemia 8 | 2 tests |
Diamond-Blackfan anemia 9 | 2 tests |
Diaphragmatic hernia 3 | 1 test |
Diaphyseal dysplasia | 1 test |
Diaphyseal medullary stenosis-bone malignancy syndrome | 2 tests |
Dias-Logan syndrome | 5 tests |
Diastrophic dysplasia | 1 test |
Dicarboxylic aminoaciduria | 3 tests |
Diencephalic-mesencephalic junction dysplasia syndrome 1 | 3 tests |
Differentiated thyroid carcinoma | 1 test |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 8 tests |
Diffuse nonepidermolytic palmoplantar keratoderma | 2 tests |
Dihydropteridine reductase deficiency | 6 tests |
Dihydropyrimidinase deficiency | 3 tests |
Dihydropyrimidine dehydrogenase deficiency | 8 tests |
Dilated cardiomyopathy 1A | 1 test |
Dilated cardiomyopathy 1AA | 1 test |
Dilated cardiomyopathy 1BB | 2 tests |
Dilated cardiomyopathy 1C | 6 tests |
Dilated cardiomyopathy 1CC | 3 tests |
Dilated cardiomyopathy 1D | 1 test |
Dilated cardiomyopathy 1DD | 2 tests |
Dilated cardiomyopathy 1E | 1 test |
Dilated cardiomyopathy 1EE | 1 test |
Dilated cardiomyopathy 1FF | 1 test |
Dilated cardiomyopathy 1G | 1 test |
Dilated cardiomyopathy 1GG | 1 test |
Dilated cardiomyopathy 1HH | 1 test |
Dilated cardiomyopathy 1I | 1 test |
Dilated cardiomyopathy 1II | 1 test |
Dilated cardiomyopathy 1J | 4 tests |
Dilated cardiomyopathy 1JJ | 2 tests |
Dilated cardiomyopathy 1KK | 1 test |
Dilated cardiomyopathy 1L | 4 tests |
Dilated cardiomyopathy 1M | 1 test |
Dilated cardiomyopathy 1NN | 5 tests |
Dilated cardiomyopathy 1O | 1 test |
Dilated cardiomyopathy 1P | 1 test |
Dilated cardiomyopathy 1R | 2 tests |
Dilated cardiomyopathy 1S | 1 test |
Dilated cardiomyopathy 1U | 1 test |
Dilated cardiomyopathy 1V | 5 tests |
Dilated cardiomyopathy 1W | 1 test |
Dilated cardiomyopathy 1X | 1 test |
Dilated cardiomyopathy 1Y | 1 test |
Dilated cardiomyopathy 1Z | 1 test |
Dilated cardiomyopathy 2A | 2 tests |
Dilated cardiomyopathy 3B | 2 tests |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 1 test |
Dimethylglycine dehydrogenase deficiency | 3 tests |
Distal arthrogryposis type 2B1 | 4 tests |
Distal arthrogryposis type 5D | 3 tests |
Distal myopathy with anterior tibial onset | 1 test |
Distal myopathy, Tateyama type | 4 tests |
Dizygotic twins | 1 test |
Dominant beta-thalassemia | 2 tests |
Dominant dystrophic epidermolysis bullosa with absence of skin | 1 test |
Donnai-Barrow syndrome | 6 tests |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | 7 tests |
Dowling-Degos disease 1 | 1 test |
Dowling-Degos disease 4 | 1 test |
Down syndrome | 5 tests |
Doyne honeycomb retinal dystrophy | 2 tests |
Drash syndrome | 3 tests |
Duane retraction syndrome 2 | 1 test |
Duane-radial ray syndrome |